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	NSWES964	WT	HH	HZ	NC
chr1	1419210	1419210	G	A	exonic	ANKRD65	.	nonsynonymous SNV	ANKRD65:NM_001145210:exon4:c.C1090T:p.R364W,	.	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.51	P	.	.	1.000	N	1.535	L	-0.36	T	-0.662	T	0.238	T	0.341	0.902	8.669	-3.98	-0.484	-1.078	14.568	0.208	.	.	0.00219649	0.0038	0	0.0090	0	0	0.0002	0	0.0069	0.0004981	77	154602	rs561097299	0.0007	0.0006	0.0005	0.0008	0.0061	0.0006	0.0006	0.0057	0.0055	0.0002	0.0001	0.0017	0	0	0.0025	0.0003	0.0006	0.0061	0.0004	0.0004	0.0003	0.0006	0.0089	0.0003	0.0003	0.0068	0.0061	2.406e-05	0	6.534e-05	0.0012	0	0	0	0.0002	0	0.0089	0.003	0.68238	D	0.004	0.74150	D	0.986	0.61523	D	0.51	0.47925	P	.	.	.	.	1	0.08975	N	2.94	0.84723	M	-0.36	0.68754	T	-3.95	0.73477	D	0.244	0.29313	-0.6619	0.62192	T	0.238	0.60499	T	9	0.006204158	0.00140	T	.	.	.	0.208	0.49714	.	.	0.149567049428	0.14543	0.5199102855663612	0.51914	.	.	0.622208237648	0.56040	T	0.054403	0.29715	T	-0.380208	0.03107	T	-0.316029	0.43007	T	0.129943870903778	0.15377	T	0.669833	0.27843	T	0.22040938	0.44595	0.28525153	0.54527	0.22040938	0.44595	0.28525153	0.54526	-7.714	0.59105	D	.	.	0.203	0.42806	B	.;.	.;.	2.285365	0.29230	18.05	0.87382691474106111	0.17188	0.01698	0.05402	N	AEFDBI	0.138513	0.25982	N	-0.858687819916673	0.11836	0.5734591	-1.09229790338135	0.07851	0.3835746	0.99993353468992	0.46732	0.646311	0.45356	0	0.732153	0.95553	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.18	-3.98	0.03810	-1.163000	0.03248	-1.009000	0.06620	-0.644000	0.04415	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.0:0.6491:0.3509	14.568	0.67786	889	0.27310	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1131.98	96	chr1	1419210	.	G	A	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=1171;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.19;ReadPosRankSum=0.508;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,30:59:99:0|1:1419210_G_A:1146,0,1120:1419210	20	0	1	0
chr1	1641732	1641732	-	TCC	exonic	CDK11B	.	nonframeshift insertion	CDK11B:NM_033487:exon7:c.170_171insGGA:p.E67_T68insE	.	.	152	1341	7	2	20	31	0.00408466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	988.17	21	chr1	1641723	.	TTCCTCCTCC	T,TTCCTCCTCCTCC	988.17	.	AC=2,2;AF=0.050,0.050;AN=40;DP=638;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=1,2;MLEAF=0.025,0.050;MQ=36.74;QD=32.97;SOR=1.708	GT:AD:DP:GQ:PL	2/2:0,0,21:21:63:944,945,945,63,63,0	18	1	0	1
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	0/1:61,30,0:91:99:1054,0,2458,1238,2548,3786	10	3	7	0
chr1	7835906	7835906	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon20:c.C3359T:p.T1120I	.	.	430	1082	10	0	0	10	0.00459982	.	.	3207130	PER3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	N	2.07	M	2.3	T	-1.090	T	0.093	T	0.523	0.343	5.858	3.07	0.889	1.651	8.478	0.140	0.0126678192079	0.0005	0.00199681	0.0012	0.0002	0.0012	0	0	0.0009	0.0033	0.0036	0.0010867	168	154602	rs35802556	0.0007	0.0007	0.0006	0.0008	0.0068	0.0007	0.0006	0.0051	0.0045	0.0002	0.0018	0.0017	0	3.744e-05	0.0068	0.0004	0.0015	0.0033	0.0007	0.0007	0.0007	0.0007	0.0043	0.0006	0.0005	0.0029	0.0024	0.0001	0	0.0014	0.0006	0.0002	0	0.0034	0.0007	0.0014	0.0043	0.005	0.68238	D	0.005	0.72224	D	0.993	0.66517	D	0.911	0.68276	D	0.000001	0.62929	D	0.056701	0.999998	0.18612	N	1.995	0.54099	M	2.3	0.16953	T	-2.98	0.63554	D	0.336	0.37717	-1.0898	0.05565	T	0.093	0.35390	T	10	0.010260373	0.00229	T	0.012668	0.31446	T	0.140	0.37593	.	.	0.425851741357	0.42205	0.801088203668532	0.80062	0.0910621410951	0.10283	0.418456315994	0.27625	T	0.291599	0.72922	T	-0.450412	0.01123	T	-0.422183	0.30825	T	0.0657858276570351	0.08046	T	0.561944	0.20346	T	0.24689956	0.47664	0.14406288	0.34215	0.2582306	0.48872	0.16181502	0.37618	-5.695	0.43649	T	0.7634413780337159	0.84507	0.268	0.51032	B	.;.;.;.	.;.;.;.	0.772759	0.11430	8.036	0.92766735841159331	0.22278	0.37649	0.25809	N	AEFBI	0.086952	0.17630	N	-0.00903532443446479	0.41446	2.479162	-0.227646104577955	0.30549	1.721047	0.0199741062019359	0.13214	0.651	0.46895	0	0.547309	0.14657	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	3.98	3.07	0.34476	1.688000	0.37308	0.134000	0.15084	-0.817000	0.03001	0.400000	0.26170	0.001000	0.17328	0.001000	0.02609	0.0:0.8908:0.0:0.1092	8.478	0.32188	566	0.70798	.;Period circadian-like, C-terminal;.;Period circadian-like, C-terminal	.	.	.	.	.	Uncertain significance	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	0.04762	5005.08	33	chr1	7835906	.	C	T	5005.08	.	AC=2;AF=0.048;AN=42;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.79;SOR=1.080	GT:AD:DP:GQ:PL	1/1:0,168:168:99:5033,503,0	20	1	0	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,78:225:99:0|1:10326244_G_C:1618,0,4927:10326244	8	0	13	0
chr1	10648050	10648050	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon16:c.C3248T:p.A1083V	.	.	378	1135	8	1	0	10	0.00438596	.	.	2092842	not_provided|CASZ1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.867	P	0.382	B	0.000	D	0.761	N	1.39	L	.	.	-0.823	T	0.133	T	0.26	2.823	15.40	4.63	1.331	1.865	16.626	0.045	0.00967934486931	0.0008	0.000399361	0.0014	0	0.0008	0	0	0.0021	0.0018	0.0011	0.0009508	147	154602	rs138085050	0.0009	0.0009	0.0009	0.0010	0.0028	0.0009	0.0009	0.0018	0.0014	3.016e-05	0.0010	0.0027	0	5.771e-05	0.0028	0.0010	0.0011	0.0010	0.0011	0.0010	0.0009	0.0012	0.0035	0.0009	0.0009	0.0028	0.0025	7.22e-05	0	0.0035	0.0035	0	0	0.0068	0.0012	0.0014	0.0002	0.014	0.57480	D	0.025	0.56192	D	0.867	0.47667	P	0.382	0.43908	B	0.000156	0.49130	D	0.208574	0.761077	0.29538	N	1.04	0.26193	L	.	.	.	-0.82	0.24026	N	0.373	0.41459	-0.8228	0.53758	T	0.133	0.44603	T	9	0.01191923	0.00258	T	0.009679	0.25290	T	0.045	0.12272	.	.	0.082315109003	0.07666	0.27405522234395513	0.27318	.	.	0.414805203676	0.27122	T	0.217276	0.57967	T	-0.39944	0.02335	T	-0.376624	0.36116	T	0.0422125662383712	0.04094	T	0.808619	0.45852	T	0.07227204	0.16065	0.107286446	0.25826	0.07631859	0.17251	0.10051319	0.24034	-4.097	0.25246	T	.	.	0.093	0.13969	B	.;.	.;.	2.548886	0.32991	19.21	0.99822198191608613	0.90502	0.94659	0.61892	D	AEFBI	0.604542	0.59560	D	0.118441575963013	0.47325	2.959665	0.130446200567237	0.46115	2.86275	0.991851987846841	0.32632	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.55	4.63	0.57175	2.018000	0.40610	6.569000	0.55962	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.4171:0.5829:0.0	16.626	0.84824	793	0.45818	.;.	.	.	.	.	.	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	1923.08	35	chr1	10648050	.	G	A	1923.08	.	AC=2;AF=0.048;AN=42;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.16;SOR=0.997	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1951,174,0	20	1	0	0
chr1	10649167	10649167	C	T	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon15:c.G3061A:p.G1021S	.	.	418	1099	5	0	0	5	0.00226963	.	.	3030020	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.015	B	0.006	B	0.000	D	0.876	N	-0.345	N	.	.	-1.075	T	0.048	T	0.09	2.697	14.98	4.27	2.406	2.807	9.651	0.062	0.00522111818639	0.0002	.	8.436e-05	0	0	0	0	9.208e-05	0	0.0002	6.47e-05	10	154602	rs201245525	4.653e-05	4.652e-05	2.86e-05	6.465e-05	0.0004	3.729e-05	3.412e-05	0.0003	0.0002	0	0	3.826e-05	0	0	0.0003	2.698e-05	6.624e-05	0.0004	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	0.055	0.38407	T	0.152	0.32249	T	0.015	0.17086	B	0.006	0.12133	B	0.000038	0.55875	D	0.160619	0.876073	0.28128	N	0	0.06538	N	.	.	.	-0.36	0.15986	N	0.151	0.22228	-1.0755	0.08246	T	0.048	0.20315	T	9	0.0693109	0.09928	T	0.005221	0.13310	T	0.062	0.17934	.	.	0.043077524339	0.03247	0.3733315186782187	0.37247	.	.	0.629570424557	0.57084	T	0.110242	0.42478	T	-0.428174	0.01520	T	-0.56067	0.16315	T	0.0593338444551882	0.07063	T	0.927207	0.73169	D	0.06640846	0.14284	0.08604449	0.19909	0.06640846	0.14284	0.08604449	0.19909	-0.691	0.12652	T	.	.	0.068	0.02765	B	.;.	.;.	4.190940	0.63170	24.5	0.98527273186461384	0.42545	0.65554	0.32776	D	AEFDBHCI	0.603343	0.59486	D	-0.295888549534124	0.29306	1.62405	-0.0887774327472579	0.35853	2.079235	0.999999999839682	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.64067	0.45733	0	0.604944	0.38103	0	.	.	5.19	4.27	0.50009	2.852000	0.48008	2.639000	0.33742	0.589000	0.31548	0.990000	0.36992	0.992000	0.31684	0.794000	0.37478	0.0:0.7851:0.1395:0.0754	9.651	0.39062	798	0.45050	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3880.08	35	chr1	10649167	.	C	T	3880.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.015e+00;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=31.29;ReadPosRankSum=-1.006e+00;SOR=0.243	GT:AD:DP:GQ:PL	1/1:1,123:124:99:3908,330,0	20	1	0	0
chr1	13282884	13282884	C	T	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon3:c.G826A:p.V276I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.997	D	0.803	P	0.018	N	1.000	N	1.275	L	5.49	T	-0.909	T	0.006	T	0.047	-0.021	3.906	0.437	0.146	-0.172	5.555	0.026	0.0348262462118	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379848807	0.0017	0.0017	0.0018	0.0017	0.0024	0.0016	0.0016	0.0022	0.0021	0.0003	0.0010	0.0023	8.133e-05	0.0010	0.0007	0.0024	0.0024	2.514e-05	0.0015	0.0017	0.0017	0.0013	0.0025	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0010	0.0020	0	0.0007	0	0.0025	0.0008	0	0.894	0.02459	T	0.502	0.11115	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.49	0.00930	T	-0.63	0.18459	N	0.049	0.02179	.	.	.	.	.	.	.	0.0340389	0.01598	T	.	.	.	.	.	.	.	0.162503812791	0.15892	0.12495711355592264	0.12421	.	.	0.679189562798	0.64152	T	0.016063	0.13351	T	-0.0600255	0.42905	T	-0.323999	0.42133	T	.	.	.	.	.	.	0.015225977	0.00128	0.05505007	0.09583	0.015225977	0.00128	0.05505007	0.09582	-4.784	0.34404	T	.	.	0.105	0.19114	B	.;.;.	.;.;.	1.148836	0.15365	11.80	0.65553019021391823	0.07805	0.00381	0.01927	N	AEFI	0.021289	0.00931	N	.	.	.	.	.	.	1.17712276854768E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.7	-0.662	0.10840	0.064000	0.14310	-20.000000	0.00162	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.392:0.608:0.0	7.714	0.27858	.	.	.;.;.	.	.	.	.	.	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	214.06	14	chr1	13282884	.	C	T	214.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=257;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0300;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.15;SOR=0.602	GT:AD:DP:GQ:PL	0/1:10,9:19:99:228,0,260	20	0	1	0
chr1	13369084	13369084	G	A	exonic	PRAMEF19	.	nonsynonymous SNV	PRAMEF19:NM_001099790:exon3:c.C1423T:p.R475W,	.	.	546	972	4	0	0	4	0.00205339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.0	B	0.257	N	1.000	N	0	N	4.99	T	-0.892	T	0.004	T	0.094	-2.629	0	-0.917	-1.832	0.007	2.186	0.015	0.000584119692343	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484854132	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0007	5.987e-05	0.0003	3.827e-05	0.0010	5.616e-05	0.0015	0.0002	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0006	0.0005	7.228e-05	0	6.538e-05	0	0.0014	9.432e-05	0	0.0002	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.257412	0.03686	N	1.825470	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.8922	0.48740	T	0.004	0.01295	T	10	0.030973375	0.01228	T	0.001985	0.03562	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.38350958008177405	0.38265	.	.	0.410465300083	0.26521	T	0.010765	0.09688	T	-0.381261	0.03059	T	-0.785432	0.02293	T	0.038568110847218	0.03434	T	0.355964	0.08087	T	0.06412637	0.13575	0.024621703	0.00485	0.06412637	0.13575	0.024621703	0.00485	-4.41	0.29693	T	.	.	0.075	0.05535	B	.	.	1.167902	0.15574	11.95	0.036368531075482789	0.00000	0.00004	0.00092	N	AEFI	0.024589	0.01546	N	-1.8054402889908	0.00532	0.02290371	-1.8899536326683	0.00512	0.02271053	1.15653096717381E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.737	-0.917	0.09952	-0.003000	0.12836	-1.302000	0.05771	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4144:0.3216:0.264:0.0	2.186	0.03649	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	0.05	2892.8	36	chr1	13369084	.	G	A	2892.8	.	AC=2;AF=0.050;AN=40;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.050;MQ=58.85;QD=33.25;SOR=2.330	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2920,261,0	19	1	0	1
chr1	15219723	15219723	G	A	exonic	TMEM51	.	nonsynonymous SNV	TMEM51:NM_001136217:exon3:c.G742A:p.D248N	.	.	442	1078	2	0	0	2	0.000926784	.	.	2193940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.002	B	0.068	N	1.000	N	1.78	L	1.46	T	-1.031	T	0.063	T	0.043	1.245	10.05	1.26	-0.023	.	8.076	0.044	0.00614277032744	.	.	0.0001	0	0.0002	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs201593485	9.652e-05	9.645e-05	8.172e-05	0.0001	0.0036	8.315e-05	7.854e-05	0.0024	0.0021	5.985e-05	0.0001	0.0008	0.0001	0	0.0036	4.678e-05	0.0002	0.0003	7.226e-05	7.219e-05	7.711e-05	6.718e-05	0.0002	3.97e-05	3.126e-05	7.98e-06	2.98e-06	4.814e-05	0	6.541e-05	0.0006	0	0	0.0034	2.94e-05	0.0009	0.0002	0.061	0.37118	T	0.21	0.26714	T	0.001	0.07471	B	0.002	0.06944	B	0.067905	0.21708	N	0.497838	1	0.08975	N	1.845	0.48678	L	1.46	0.32238	T	-1.83	0.42957	N	0.135	0.13626	-1.0309	0.20163	T	0.063	0.26279	T	10	0.028413683	0.00973	T	0.006143	0.16082	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.2662570022611763	0.26538	0.178012152837	0.20024	0.390406668186	0.23728	T	0.037717	0.24578	T	-0.521103	0.00434	T	-0.675787	0.07243	T	0.0207159595371146	0.00771	T	0.70313	0.31322	T	0.042115264	0.06328	0.046096638	0.06349	0.042115264	0.06327	0.046096638	0.06348	-4.07	0.24846	T	.	.	0.070	0.03588	B	.;.;.;.	.;.;.;.	1.821933	0.23154	15.91	0.98471273246507596	0.41861	0.27743	0.23362	N	AEFBI	0.071042	0.14126	N	-0.665100579618749	0.17022	0.8723889	-0.678085803604801	0.17509	0.9313425	0.992359115299666	0.32809	0.732398	0.92422	0	0.659037	0.61890	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.46	1.26	0.20534	0.759000	0.26127	4.405000	0.43261	0.676000	0.76740	0.150000	0.23655	1.000000	0.68203	0.308000	0.24690	0.3419:0.0:0.6581:0.0	8.076	0.29878	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	0.02381	573.98	34	chr1	15219723	.	G	A	573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=824;ExcessHet=0.0000;FS=1.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.11;ReadPosRankSum=-4.400e-01;SOR=0.997	GT:AD:DP:GQ:PL	0/1:41,22:63:99:588,0,1111	20	0	1	0
chr1	15660079	15660079	C	G	exonic	RSC1A1	.	nonsynonymous SNV	RSC1A1:NM_006511:exon1:c.C211G:p.H71D,	.	.	437	1074	11	0	0	11	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.358	B	0.117	B	0.602	N	1.000	N	0.345	N	1.03	T	-1.071	T	0.064	T	0.266	-0.448	1.923	3.69	2.635	1.193	6.444	0.106	0.00492976546737	0.0005	0.000998403	0.0007	0.0007	0.0002	0.0001	0	7.497e-05	0.0011	0.0045	0.0006274	97	154602	rs145936844	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0040	0.0008	0	0	0	0	0.0010	2.878e-05	0.0004	0.0045	0.0004	0.0004	0.0003	0.0004	0.0044	0.0003	0.0003	0.0029	0.0025	0.0007	0	0	0	0	0	0	8.819e-05	0.0005	0.0044	0.216	0.19225	T	0.367	0.16619	T	0.358	0.33818	B	0.117	0.32014	B	0.602102	0.05652	N	1.218430	0.999999	0.08975	N	1.32	0.33002	L	1.03	0.40469	T	-2.23	0.50012	N	0.353	0.39457	-1.0709	0.09216	T	0.064	0.26597	T	10	0.003985256	0.00077	T	0.00493	0.12411	T	0.106	0.30130	.	.	0.245660935333	0.24156	0.16654297982546204	0.16574	0.111376564188	0.12561	0.242129161954	0.02985	T	0.551669	0.84831	D	-0.49806	0.00586	T	-0.487664	0.23634	T	0.0170598240796603	0.00453	T	0.457454	0.13149	T	0.10066186	0.23771	0.11465152	0.27675	0.10066186	0.23771	0.11465152	0.27675	-2.701	0.07312	T	.	.	0.110	0.21049	B	.	.	1.505232	0.19345	14.22	0.85226072243723339	0.15762	0.18647	0.20346	N	AEFBI	0.057800	0.10795	N	-0.521443595254785	0.21388	1.134663	-0.486199730024938	0.22533	1.224349	0.0111370876284493	0.12136	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.58	3.69	0.41483	1.225000	0.32154	0.136000	0.15109	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.957000	0.51019	0.0:0.6412:0.2155:0.1433	6.444	0.21066	846	0.36215	.	.	.	.	.	.	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	1451.98	35	chr1	15660079	.	C	G	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=0.794;SOR=0.707	GT:AD:DP:GQ:PL	0/1:79,53:132:99:1466,0,2184	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:231,148:379:99:3682,0,6429	3	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	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	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:318,203:521:99:4945,0,8604	3	0	18	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	0/1:232,111:343:99:2727,0,7420	1	0	20	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:263,68:331:99:1314,0,8902	1	0	20	0
chr1	16576447	16576447	C	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00503644279345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227134168	1.371e-06	2.463e-05	1.364e-06	1.377e-06	1.161e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.661e-05	1.161e-05	6.561e-06	1.968e-05	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.33030	.	.	.	.	.	.	.	0.17387503	0.32236	T	0.005036	0.12722	T	.	.	.	.	0.541783519154	0.53830	0.0505537980196316	0.04998	.	.	0.610076189041	0.54326	T	.	.	.	-0.224225	0.17419	T	-0.55986	0.16390	T	.	.	.	0.89751	0.64163	D	.	.	.	.	.	.	.	.	-9.95	0.73612	D	.	.	0.332	0.55334	B	.;.	.;.	0.550034	0.09184	5.969	0.55601169742820644	0.05376	0.00182	0.01064	N	AEFBI	0.025190	0.01684	N	.	.	.	.	.	.	6.18938188310139E-5	0.04366	0.228283	0.04149	0	0.429362	0.06391	1	0.076283	0.02329	2	0.195515	0.04268	0	.	.	1.14	0.091	0.13776	-0.428000	0.07059	-0.736000	0.07640	0.156000	0.17708	0.204000	0.24355	0.000000	0.08366	0.041000	0.14368	0.0:0.7406:0.0:0.2594	3.849	0.08457	443	0.79878	.;.	.	.	.	.	.	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	217.98	456	chr1	16576447	.	C	G	217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.355;DP=7742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.64;MQRankSum=-4.150e+00;QD=0.86;ReadPosRankSum=-1.789e+00;SOR=0.667	GT:AD:DP:GQ:PL	0/1:223,31:254:99:232,0,7541	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	0/1:221,56:277:99:.:.:1054,0,5772	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|1:42,5:47:84:0|1:16579293_A_G:84,0,1737:16579293	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|1:42,5:47:84:0|1:16579293_A_G:84,0,1737:16579293	0	0	19	2
chr1	16585589	16585589	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	444	979	99	0	0	99	0.0481283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2537	0.3542	0.2037	0.3206	0.2384	0.2507	0.2699	0.2182	0.0049562	129	26028	rs545990928	0.0003	0.0030	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0003	3.641e-05	1.99e-05	0.0006	1.297e-05	2.716e-05	0.0002	5.29e-06	2.47e-06	8.1e-06	3.03e-06	4.886e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	363.95	124	chr1	16585589	.	A	G	363.95	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.337e+00;DP=2025;ExcessHet=0.3300;FS=5.004;InbreedingCoeff=-0.0825;MLEAC=3;MLEAF=0.071;MQ=35.20;MQRankSum=-1.963e+00;QD=1.14;ReadPosRankSum=1.04;SOR=1.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,10:63:99:0|1:16585589_A_G:223,0,2195:16585589	18	0	3	0
chr1	16585590	16585590	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	442	981	99	0	0	99	0.0480349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2530	0.3520	0.2026	0.3183	0.2384	0.2504	0.2685	0.2177	0.0049562	129	26028	rs201157551	0.0004	0.0031	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0004	3.636e-05	3.308e-05	0.0006	3.883e-05	2.707e-05	0.0002	1.267e-05	8.03e-06	8.06e-06	3.01e-06	4.862e-05	0	6.573e-05	0	0.0002	0	0	1.481e-05	0	0	.	.	.	0.964	0.02582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00372	.	.	.	.	.	.	.	0.0019111931	0.00026	T	.	.	.	.	.	.	.	.	.	0.014674221529618755	0.01424	.	.	0.494962483644	0.38127	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.877512	0.59164	D	.	.	.	.	.	.	.	.	-6.447	0.49876	T	.	.	0.057	0.01328	B	.;.	.;.	-0.545511	0.01726	0.128	0.38162018612620946	0.02558	0.00009	0.00143	N	AEFI	0.015283	0.00284	N	.	.	.	.	.	.	1.12467906276832E-4	0.05269	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	-1.085000	0.03500	-20.000000	0.00162	-0.421000	0.05231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	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	0.07143	364.01	124	chr1	16585590	.	T	C	364.01	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.45;DP=2032;ExcessHet=0.3300;FS=5.004;InbreedingCoeff=-0.0838;MLEAC=3;MLEAF=0.071;MQ=35.21;MQRankSum=-1.963e+00;QD=1.14;ReadPosRankSum=0.634;SOR=1.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,10:63:99:0|1:16585589_A_G:223,0,2195:16585589	18	0	3	0
chr1	16986292	16986292	G	A	exonic	ATP13A2	.	nonsynonymous SNV	ATP13A2:NM_001141974:exon27:c.C3170T:p.A1057V	Kufor-Rakeb syndrome, Autosomal recessive;Spastic paraplegia 78, autosomal recessive, Autosomal recessive	.	1	1512	8	1	0	10	0.00329598	.	.	437799	not_provided|Autosomal_recessive_spastic_paraplegia_type_78|Kufor-Rakeb_syndrome|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0014975,MedGen:C5567893,OMIM:617225,Orphanet:513436|MONDO:MONDO:0011706,MedGen:C1847640,OMIM:606693,Orphanet:306674,Orphanet:314632|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.99	D	0.582	P	0.132	N	0.553	D	0.55	N	0.9	T	-0.916	T	0.081	T	0.226	3.388	17.43	2.48	1.079	3.094	8.161	0.070	0.161590559463	7.8e-05	.	0.0005	0.0002	0.0004	0.0002	0	0.0003	0.0021	0.0012	0.0002329	36	154602	rs201610681	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	2.997e-05	4.712e-05	0.0001	5.111e-05	0	0.0012	0.0002	0.0003	0.0014	0.0002	0.0002	0.0001	0.0003	0.0014	0.0001	0.0001	0.0007	0.0005	9.657e-05	0	0	0	0.0002	0	0	0.0002	0	0.0014	0.006	0.65419	D	0.004	0.74150	D	0.986	0.61523	D	0.582	0.50238	P	0.131815	0.18609	N	0.549123	0.552723	0.32146	D	1.7	0.43825	L	0.9	0.45248	T	-3.01	0.62518	D	0.254	0.32921	-0.9165	0.46024	T	0.081	0.32002	T	10	0.045384973	0.03603	T	0.161591	0.84135	D	0.070	0.20419	.	.	0.624085083283	0.62102	0.3642828060399647	0.36342	0.886748449925	0.70032	0.497064352036	0.38418	T	0.500981	0.82136	D	-0.204498	0.20157	T	-0.107057	0.62845	T	0.0935632881944337	0.11634	T	0.935706	0.75920	D	0.13633862	0.31609	0.14874738	0.35148	0.17195876	0.37859	0.1386834	0.33113	-4.573	0.32559	T	.	.	0.097	0.24901	B	.;.	.;.	3.713286	0.53021	23.3	0.99826621969067608	0.90852	0.93959	0.59690	D	AEFDBI	0.499932	0.53340	N	0.144786882682664	0.48567	3.067285	0.16179607618744	0.47770	3.002299	0.994473646730824	0.33653	0.695654	0.57023	0	0.693144	0.66847	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.61	2.48	0.29194	2.228000	0.42625	4.680000	0.44317	0.618000	0.50648	0.962000	0.33725	1.000000	0.68203	0.985000	0.61073	0.099:0.0:0.7383:0.1627	8.161	0.30361	846	0.36215	.;.	.	.	.	.	.	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	771.98	46	chr1	16986292	.	G	A	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.962;DP=999;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.980e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,32:59:99:786,0,594	20	0	1	0
chr1	17093626	17093626	C	T	exonic	PADI2	.	nonsynonymous SNV	PADI2:NM_007365:exon5:c.G470A:p.R157Q,	.	.	385	1133	4	0	0	4	0.00176211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.003	B	0.001	D	1.000	D	1.775	L	2.44	T	-1.126	T	0.045	T	0.384	3.185	16.66	5.82	2.756	1.163	12.051	0.121	0.00810368549857	0.0007	0.00159744	0.0008	9.61e-05	8.64e-05	0.0001	0	0.0010	0	0.0012	0.0006921	107	154602	rs138321729	0.0006	0.0006	0.0006	0.0006	0.0036	0.0006	0.0006	0.0024	0.0020	0.0001	0.0002	0.0068	0.0004	0	0.0036	0.0005	0.0008	0.0009	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0007	0.0005	0.0001	0	0.0003	0.0066	0.0004	0	0.0034	0.0006	0.0005	0.0015	0.138	0.51248	T	0.379	0.37730	T	0.001	0.07471	B	0.003	0.08700	B	0.000677	0.42516	D	0.235751	0.834056	0.81001	D	2.14	0.59869	M	2.44	0.15145	T	-2.06	0.50992	N	0.287	0.33250	-1.1259	0.01989	T	0.045	0.19356	T	10	0.0055550337	0.00123	T	0.008104	0.21470	T	0.121	0.33580	.	.	0.280181792013	0.27631	0.5118119120164202	0.51103	0.220525867685	0.24599	0.323958933353	0.14020	T	0.073982	0.34828	T	-0.421763	0.01667	T	-0.434957	0.29375	T	0.0277176089584827	0.01646	T	0.90371	0.66210	D	0.18777637	0.40247	0.08773608	0.20413	0.18777637	0.40247	0.08773608	0.20412	-5.331	0.40249	T	.	.	0.105	0.19235	B	.;.	.;.	4.122902	0.61634	24.4	0.99837769754522609	0.91886	0.75087	0.36750	D	AEFDBI	0.247328	0.36792	N	-0.00707809986407273	0.41535	2.486062	0.171011864005738	0.48265	3.044869	0.99939357735269	0.39470	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	1.630000	0.36693	4.785000	0.44861	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.927000	0.46353	0.0:0.9212:0.0:0.0788	12.051	0.52804	824	0.40336	Protein-arginine deiminase (PAD), central 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	1823.98	39	chr1	17093626	.	C	T	1823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.085e+00;DP=866;ExcessHet=0.0000;FS=1.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.435;SOR=0.798	GT:AD:DP:GQ:PL	0/1:81,79:160:99:1838,0,1957	20	0	1	0
chr1	18482171	18482171	G	A	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.G1190A:p.G397D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.001	B	0.002	B	0.071	N	1.000	N	0.69	N	-0.7	T	-0.976	T	0.207	T	0.092	-0.894	0.451	0.505	-0.031	0.084	10.083	0.078	0.0144603345422	.	.	8.877e-06	0	8.878e-05	0	0	0	0	0	6.5e-06	1	154602	rs751598001	1.371e-06	1.368e-06	1.364e-06	1.377e-06	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	0	0	8.994e-07	0	0	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	0.427	0.09629	T	0.511	0.10785	T	0.0	0.02946	B	0.001	0.04355	B	0.071294	0.02253	N	1.979650	1	0.08975	N	1.04	0.26193	L	-0.7	0.72785	T	0.51	0.02898	N	0.159	0.16586	-0.9760	0.35904	T	0.207	0.56540	T	10	0.050219685	0.04724	T	0.01446	0.34591	T	0.078	0.22779	0.273	0.22369	0.151104730317	0.14643	0.20152943587535704	0.20069	0.487117167141	0.47548	0.296558916569	0.09890	T	0.004839	0.04259	T	-0.280077	0.10658	T	-0.557223	0.16638	T	0.0809161886572838	0.10104	T	0.272073	0.04599	T	0.033464484	0.03570	0.055461735	0.09732	0.033464484	0.03570	0.055461735	0.09732	-4.855	0.35225	T	.	.	0.079	0.07318	B	.	.	0.178274	0.05660	2.111	0.46589244528047979	0.03743	0.10040	0.15654	N	AEFDBCI	0.070862	0.14083	N	-1.5119040053557	0.01771	0.07757435	-1.4933318807258	0.02398	0.1102409	0.99674226924916	0.34974	0.487112	0.14033	0	0.547309	0.14657	0	0.584781	0.30282	0	0.564101	0.26826	0	.	.	5.16	0.505	0.16157	0.150000	0.16082	0.527000	0.19215	-0.297000	0.06226	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4576:0.0:0.5424:0.0	10.083	0.41572	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	849.98	41	chr1	18482171	.	G	A	849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.620e+00;DP=984;ExcessHet=0.0000;FS=6.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=1.14;SOR=0.225	GT:AD:DP:GQ:PL	0/1:29,35:64:99:864,0,742	20	0	1	0
chr1	19161073	19161073	C	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon38:c.G5250T:p.R1750S,	.	.	.	.	.	.	.	.	.	.	.	2713003	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.043	B	0.016	B	0.000	D	1.000	D	0.895	L	1.94	T	-1.031	T	0.032	T	0.713	0.123	4.662	0.904	-0.063	0.152	6.418	0.184	0.0122952606353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.319e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	4.496e-06	1.656e-05	2.319e-05	1.315e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.654	0.06935	T	.	.	.	0.043	0.21573	B	0.016	0.17743	B	0.000001	0.84330	D	0.055380	0.999231	0.46406	D	0.695	0.17993	N	1.93	0.22881	T	-0.16	0.09965	N	0.864	0.86085	-1.0308	0.20195	T	0.032	0.13898	T	10	0.07939494	0.12767	T	0.012295	0.30730	T	0.184	0.45763	0.246	0.18139	0.143184338766	0.13958	0.5293561410675025	0.52859	0.525990021635	0.50232	0.640161693096	0.58588	T	0.101943	0.40918	T	-0.0492105	0.44568	T	-0.308464	0.43824	T	0.234172031283379	0.22149	T	0.962204	0.85735	D	0.120385885	0.28329	0.07639379	0.16916	0.120385885	0.28329	0.07639379	0.16916	-1.943	0.02973	T	.	.	0.499	0.66295	A	.;.	.;.	2.790665	0.36681	20.3	0.82601755137216892	0.14277	0.80572	0.40174	D	AEFBHCI	0.130580	0.24919	N	-0.691519871146396	0.16262	0.826959	-0.528146291191307	0.21391	1.156912	0.984972297814767	0.30805	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.93	0.904	0.18433	0.170000	0.16476	0.440000	0.18415	-0.176000	0.10722	0.993000	0.37899	0.994000	0.32194	0.983000	0.59808	0.0:0.3871:0.3071:0.3058	6.418	0.20930	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	1389.98	34	chr1	19161073	.	C	A	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=854;ExcessHet=0.0000;FS=2.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-9.080e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/1:82,62:144:99:1404,0,1989	20	0	1	0
chr1	19755716	19755716	G	A	exonic	TMCO4	.	nonsynonymous SNV	TMCO4:NM_001349112:exon6:c.C433T:p.L145F	.	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.046	B	0.04	B	0.003	N	0.995	D	1.435	L	0.0	T	-0.965	T	0.127	T	0.306	1.907	12.33	2.5	0.243	2.470	8.900	0.094	0.0184906698955	0.0038	0.00239617	0.0039	0.0012	0.0055	0.0002	0.0029	0.0056	0.0044	0.0002	0.0040232	622	154602	rs144542419	0.0054	0.0054	0.0055	0.0052	0.0064	0.0053	0.0052	0.0061	0.0061	0.0011	0.0064	0.0052	0	0.0024	0.0026	0.0062	0.0051	0.0002	0.0044	0.0044	0.0045	0.0043	0.0077	0.0041	0.0040	0.0066	0.0062	0.0013	0	0.0077	0.0037	0	0.0026	0	0.0065	0.0062	0.0004	0.109	0.29288	T	0.175	0.29945	T	0.015	0.17086	B	0.018	0.18489	B	0.003333	0.35096	N	0.243821	0.984124	0.42423	D	1.825	0.47900	L	-0.07	0.63738	T	-2.52	0.57275	D	0.377	0.41853	-0.9650	0.38210	T	0.127	0.43360	T	10	0.0045073926	0.00093	T	0.018491	0.40571	T	0.094	0.27141	.	.	0.290962096972	0.28708	0.7304976055889247	0.72994	0.112277597435	0.12667	0.343144237995	0.16909	T	0.057648	0.30625	T	-0.39627	0.02449	T	-0.336864	0.40700	T	0.0209411064082096	0.00795	T	0.711229	0.32236	T	0.06256745	0.13083	0.08191611	0.18655	0.06256745	0.13083	0.08191611	0.18655	-8.86	0.66791	D	.	.	0.081	0.08224	B	.;.	.;.	1.818182	0.23107	15.89	0.99237275745013054	0.56437	0.82177	0.41445	D	AEFBI	0.171744	0.29873	N	-0.328821440249475	0.28058	1.544461	-0.237948022738432	0.30188	1.697614	0.556551298473233	0.21378	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.45	2.5	0.29355	2.853000	0.48016	4.938000	0.46187	-0.136000	0.12710	1.000000	0.71638	1.000000	0.68203	0.657000	0.32885	0.2477:0.0:0.7523:0.0	8.900	0.34647	719	0.55657	.;.	.	.	.	.	.	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	1443.98	35	chr1	19755716	.	G	A	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e+00;DP=821;ExcessHet=0.0000;FS=1.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.882;SOR=0.522	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1458,0,1447	20	0	1	0
chr1	20941650	20941650	T	C	exonic	EIF4G3	.	nonsynonymous SNV	EIF4G3:NM_003760:exon9:c.A1336G:p.I446V	.	.	420	1075	25	2	0	29	0.0133089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.01	B	0.009	B	0.099	N	0.999	N	0	N	2.07	T	-1.019	T	0.017	T	0.073	-0.647	1.149	-0.899	0.130	0.496	0.383	0.037	.	0.0011	0.00319489	0.0025	0.0002	8.64e-05	0	0.0002	0.0011	0	0.0142	0.0022574	349	154602	rs141254078	0.0015	0.0015	0.0011	0.0020	0.0143	0.0015	0.0015	0.0137	0.0134	0.0002	0.0002	0.0001	2.519e-05	7.488e-05	0.0071	0.0008	0.0015	0.0143	0.0012	0.0012	0.0010	0.0014	0.0182	0.0010	0.0010	0.0152	0.0140	0.0001	0	0.0002	0	0	0	0.0136	0.0012	0.0005	0.0182	0.37	0.11550	T	0.657	0.07617	T	0.001	0.07471	B	0.009	0.14300	B	0.098616	0.19972	N	0.568044	0.998948	0.45735	D	0	0.06538	N	2.07	0.20387	T	0.28	0.04233	N	0.044	0.03069	-1.0187	0.24139	T	0.017	0.07045	T	10	0.0032545626	0.00056	T	.	.	.	0.037	0.09474	.	.	0.179529687257	0.17594	0.0927177310028373	0.09203	0.120064589103	0.13520	0.295090973377	0.09671	T	0.019541	0.15549	T	-0.645134	0.00078	T	-0.68779	0.06517	T	0.0143492687051511	0.00287	T	0.560444	0.22396	T	0.013733779	0.00068	0.021160658	0.00177	0.013733779	0.00068	0.021160658	0.00177	-2.383	0.06489	T	.	.	0.060	0.01934	B	.;.;.;.;.	.;.;.;.;.	0.890678	0.12639	9.166	0.55373431277798246	0.05329	0.63940	0.32247	D	AEFGBI	0.081120	0.16412	N	-0.732462532457361	0.15114	0.7588709	-0.602388170348881	0.19431	1.042507	2.90097384826224E-4	0.06355	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.02	-0.899	0.10012	0.509000	0.22414	-1.154000	0.06172	0.665000	0.62972	0.998000	0.41325	0.001000	0.17328	0.952000	0.50033	0.2543:0.1642:0.2931:0.2884	0.383	0.00371	686	0.59327	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3861.11	34	chr1	20941650	.	T	C	3861.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.830e-01;DP=995;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.521;SOR=0.680	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1473,0,1917	19	0	2	0
chr1	23743468	23743468	C	G	exonic	ELOA	.	nonsynonymous SNV	ELOA:NM_003198:exon1:c.C43G:p.P15A,	.	.	423	1083	15	1	0	17	0.00778745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.001	B	.	.	1.000	N	0	N	3.26	T	-0.960	T	0.011	T	0.097	0.953	8.886	1.64	0.424	1.318	4.833	0.042	0.0584561948773	.	0.00199681	0.0051	0	0	0	.	0.0011	0.0088	0.0068	0.0004722	73	154602	rs556867091	0.0008	0.0007	0.0005	0.0010	0.0074	0.0007	0.0007	0.0069	0.0067	0	0.0002	0	0	0.0002	0.0056	0.0004	0.0009	0.0074	0.0004	0.0004	0.0004	0.0005	0.0062	0.0004	0.0003	0.0045	0.0039	4.81e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0062	0.062	0.36912	T	0.0	0.92824	D	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999999	0.08975	N	0	0.06538	N	3.26	0.06681	T	-0.15	0.09297	N	0.129	0.12484	-0.9598	0.39218	T	0.011	0.04321	T	9	0.0049416423	0.00106	T	0.058456	0.67324	D	0.042	0.11227	.	.	0.043077524339	0.03247	0.11133099168827182	0.11062	0.342242573836	0.36158	0.873043656349	0.93001	D	0.033943	0.23120	T	-0.556159	0.00268	T	-0.569187	0.15524	T	0.0431040774809014	0.04256	T	0.460354	0.13329	T	0.044194154	0.07020	0.09043747	0.21207	0.044194154	0.07020	0.09043747	0.21206	-3.147	0.11843	T	.	.	0.077	0.06295	B	.;.	.;.	2.368920	0.30397	18.42	0.91378606310263222	0.20644	0.07440	0.13457	N	ALL	0.023687	0.01356	N	-0.800264677036182	0.13304	0.6544211	-0.766233828198216	0.15324	0.805361	0.999999999999764	0.74766	0.006267	0.00052	3	0.374146	0.05931	1	0.47417	0.07244	0	0.249971	0.05119	0	.	.	2.58	1.64	0.22949	2.105000	0.41449	2.894000	0.35409	-0.387000	0.05364	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:0.5398:0.317:0.1432	4.833	0.12814	497	0.76227	.;.	.	.	.	.	.	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	404.98	40	chr1	23743468	.	C	G	404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.070e-01;DP=724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=1.98;SOR=0.553	GT:AD:DP:GQ:PL	0/1:11,17:28:99:419,0,242	20	0	1	0
chr1	25557205	25557205	G	A	exonic	LDLRAP1	.	nonsynonymous SNV	LDLRAP1:NM_015627:exon4:c.G397A:p.A133T,	Hypercholesterolemia, familial, autosomal recessive	.	.	.	.	.	.	.	.	.	.	627722	Hypercholesterolemia,_familial,_4|Familial_hypercholesterolemia|LDLRAP1-related_disorder	MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.441	B	0.299	B	0.000	D	1.000	D	1.935	M	-0.07	T	-0.741	T	0.261	T	0.496	4.021	20.6	5.61	2.648	9.452	18.627	0.338	0.0342710146987	.	.	1.648e-05	9.614e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs529005321	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0004	1.237e-05	1.051e-05	0.0002	0.0002	0.0004	0	0	0	0	0	3.597e-06	8.279e-05	4.637e-05	7.882e-05	7.875e-05	8.996e-05	6.717e-05	0.0002	4.495e-05	3.511e-05	0.0001	8.436e-05	0.0002	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.038	0.42783	D	0.103	0.38305	T	0.441	0.35913	B	0.299	0.41006	B	0.000012	0.62929	D	0.148806	1	0.81001	D	1.425	0.35738	L	-0.07	0.63738	T	-2.65	0.56787	D	0.725	0.72656	-0.7405	0.58427	T	0.261	0.63219	T	10	0.5974854	0.66724	D	0.034271	0.55559	D	0.338	0.66010	.	.	0.715672324379	0.71317	0.5298910218170918	0.52913	0.376120761263	0.39054	0.58466553688	0.50742	T	0.284919	0.65770	T	-0.183618	0.23198	T	-0.195554	0.55067	T	0.344345241785049	0.26796	T	0.928707	0.73770	D	0.3102024	0.53803	0.34336546	0.60049	0.3102024	0.53803	0.34336546	0.60049	-11.615	0.82925	D	0.25368589667276104	0.34315	0.155	0.34405	B	.	.	4.942221	0.81574	27.6	0.99864054047213258	0.94184	0.96725	0.70606	D	AEFDGBCI	0.900358	0.84580	D	0.298609902739295	0.56078	3.772109	0.385164508618329	0.60650	4.254893	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.61	5.61	0.85347	9.578000	0.97357	11.791000	0.96374	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.0:1.0:0.0	18.627	0.91299	594	0.68584	PTB/PI domain|PTB/PI domain|PTB/PI 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	1581.98	34	chr1	25557205	.	G	A	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=884;ExcessHet=0.0000;FS=6.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=-1.504e+00;SOR=1.160	GT:AD:DP:GQ:PL	0/1:113,69:182:99:1596,0,2812	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|1:0,50,0:50:99:1|1:26282266_C_A:2250,151,0,2250,151,2250:26282266	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|1:26,40,0:66:99:0|1:26282266_C_A:1597,0,929,1675,1049,2725:26282266	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|2:0,41,26:67:99:0|1:26282266_C_A:2772,1033,906,1716,0,1635:26282266	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|2:0,25,42:67:99:0|1:26282266_C_A:2770,1758,1715,988,0,858:26282266	1	1	5	4
chr1	27349463	27349463	G	C	exonic	SYTL1	.	nonsynonymous SNV	SYTL1:NM_001193308:exon7:c.G598C:p.G200R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.002	B	0.003	B	0.003	N	1.000	N	0.345	N	0.95	T	-1.060	T	0.048	T	0.06	-0.046	3.778	-9.22	-2.425	-3.330	6.126	0.018	0.00938632533659	.	.	0.0002	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs201651642	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	7.136e-05	0.0005	0	0.0004	0	0.0003	0.0002	0.0001	4.726e-05	9.19e-05	9.186e-05	8.993e-05	9.396e-05	0.0004	5.522e-05	4.361e-05	8.868e-05	5.28e-05	4.81e-05	0	0.0003	0	0.0004	0	0	8.82e-05	0	0	0.724	0.04629	T	0.765	0.09690	T	0.0	0.02946	B	0.001	0.04355	B	0.002559	0.00896	N	47.078100	1	0.08975	N	-0.55	0.02420	N	0.95	0.43279	T	0.11	0.05706	N	0.034	0.01577	-1.0602	0.11706	T	0.048	0.20553	T	10	0.0133135915	0.00283	T	0.009386	0.24623	T	0.018	0.03083	0.326	0.30873	0.0986583533028	0.09354	0.19207232943905922	0.19125	0.213928381652	0.23918	0.351639032364	0.18163	T	0.007149	0.26869	T	-0.600665	0.00144	T	-0.78058	0.02436	T	0.0104161743861262	0.00143	T	0.486851	0.15329	T	0.052052222	0.09652	0.043172132	0.05311	0.052052222	0.09651	0.043172132	0.05310	-4.339	0.28720	T	.	.	0.069	0.03128	B	.;.;.;.	.;.;.;.	-1.368762	0.00383	0.007	0.38962389120526114	0.02660	0.02927	0.07740	N	AEFDBHCIJ	0.037098	0.05047	N	-2.1924869620149	0.00080	0.003416073	-2.27782541604994	0.00074	0.003269648	1.0	0.98316	0.685219	0.55550	0	0.662677	0.63036	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.61	-9.22	0.00575	-2.781000	0.00843	-4.619000	0.02066	-0.993000	0.01841	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5044:0.1042:0.3218:0.0697	6.126	0.19401	549	0.72275	.;.;.;.	.	.	.	.	.	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	388.98	39	chr1	27349463	.	G	C	388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.100e-02;DP=839;ExcessHet=0.0000;FS=1.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.521;SOR=0.430	GT:AD:DP:GQ:PL	0/1:24,18:42:99:403,0,630	20	0	1	0
chr1	32335039	32335039	G	A	exonic	MARCKSL1	.	nonsynonymous SNV	MARCKSL1:NM_023009:exon2:c.C146T:p.P49L,	.	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.011	B	0.038	B	0.000	D	0.961	D	0	N	2.05	T	-1.059	T	0.027	T	0.066	2.518	14.38	3.9	2.486	1.995	10.486	0.077	0.00334259515885	0.0002	0.000798722	0.0004	0.0001	0.0004	0	0	9.559e-05	0	0.0031	0.0004269	66	154602	rs144924064	0.0003	0.0003	0.0002	0.0004	0.0031	0.0002	0.0002	0.0024	0.0023	3.184e-05	0.0003	4.355e-05	0	1.935e-05	0.0031	9.164e-05	0.0005	0.0027	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	0	0	0.0001	0	0	0	0.0034	0.0002	0	0.0025	0.045	0.40832	D	0.262	0.22895	T	0.011	0.15914	B	0.038	0.23361	B	0.000401	0.44960	D	0.195519	0.961128	0.38218	D	0	0.06538	N	2.05	0.20664	T	-2.73	0.58085	D	0.114	0.10198	-1.0591	0.11981	T	0.027	0.11574	T	10	0.008868337	0.00201	T	0.003343	0.07451	T	0.077	0.22490	.	.	0.043077524339	0.03247	0.2177558182414042	0.21691	0.222724169244	0.24812	0.619762659073	0.55696	T	0.261592	0.63309	T	-0.598293	0.00149	T	-0.637421	0.09858	T	0.062390461069718	0.07541	T	0.791921	0.43319	T	0.1484498	0.33890	0.25207034	0.50830	0.1484498	0.33890	0.25207034	0.50829	-5.511	0.41971	T	.	.	0.073	0.04681	B	.	.	3.783204	0.54409	23.5	0.99489330604230009	0.67347	0.75431	0.36932	D	AEFDGBHCI	0.215834	0.34115	N	-0.262477742494856	0.30607	1.708289	-0.0749357453791852	0.36429	2.119969	0.999999992566648	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.9	3.9	0.44240	3.447000	0.52699	9.885000	0.82229	0.668000	0.69082	0.988000	0.36536	1.000000	0.68203	0.802000	0.37819	0.0927:0.0:0.9073:0.0	10.486	0.43907	534	0.73357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	639.98	39	chr1	32335039	.	G	A	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.199e+00;DP=751;ExcessHet=0.0000;FS=6.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.636;SOR=0.619	GT:AD:DP:GQ:PL	0/1:32,29:61:99:654,0,827	20	0	1	0
chr1	35738462	35738462	C	T	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon20:c.G3359A:p.R1120Q	.	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	N	0.994	D	1.645	L	1.84	T	-0.922	T	0.139	T	0.408	5.075	31	5.26	1.629	5.264	15.427	0.106	0.0340706948945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420207716	4.105e-06	4.104e-06	5.446e-06	2.751e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-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	0.033	0.44694	D	0.014	0.63109	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	N	0.058883	0.994289	0.42226	D	2.5	0.72771	M	1.8	0.25344	T	-1.63	0.41618	N	0.43	0.52297	-0.9218	0.45307	T	0.139	0.45640	T	10	0.27692223	0.45257	T	0.034071	0.55422	D	0.106	0.30130	0.206	0.12216	0.403974779092	0.40011	0.2339326386544179	0.23308	0.281092337101	0.30582	0.322221308947	0.13757	T	0.029038	0.20895	T	-0.203187	0.20346	T	-0.360513	0.37994	T	0.94359940290451	0.61891	D	0.869813	0.57909	D	0.22296865	0.44908	0.17331141	0.39649	0.22296865	0.44908	0.17331141	0.39648	-3.47	0.17267	T	.	.	0.138	0.31832	B	.;.;.;.	.;.;.;.	4.208610	0.63560	24.6	0.99958231756441518	0.99986	0.98705	0.85807	D	AEFBI	0.576028	0.57818	D	0.640715973141441	0.75770	6.364879	0.646456115280425	0.78345	6.857992	0.998971020234834	0.38110	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	5.26	0.73479	5.342000	0.65740	3.325000	0.37578	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.9341:0.0:0.0659	15.427	0.74780	209	0.91859	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1343.98	37	chr1	35738462	.	C	T	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=782;ExcessHet=0.0000;FS=0.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=1.87;SOR=0.807	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1358,0,1243	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	0/1:5,7,0:12:99:.:.:184,0,123,199,144,343	0	12	8	0
chr1	43156285	43156285	G	A	exonic	FAM183A	.	stopgain	FAM183A:NM_001101376:exon4:c.G377A:p.W126X,	.	.	.	.	.	.	.	.	.	.	.	1325538	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	0.980	D	.	.	.	.	.	.	.	.	.	1.153	9.695	4.07	2.568	2.512	12.070	.	.	0.0018	0.000399361	0.0009	0.0001	0.0003	0	0.0006	0.0013	0	0.0005	0.0009314	144	154602	rs149435229	0.0016	0.0016	0.0017	0.0016	0.0019	0.0016	0.0015	0.0019	0.0018	0.0002	0.0006	7.652e-05	0	0.0005	0.0003	0.0019	0.0014	0.0006	0.0012	0.0012	0.0014	0.0010	0.0024	0.0011	0.0010	0.0021	0.0020	0.0002	0	0.0002	0	0	0.0006	0	0.0024	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.40652	N	0.000000	0.980041	0.39625	D	.	.	.	.	.	.	.	.	.	0.089	0.07673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253972	0.78971	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	7.648845	0.96726	36	0.97406878149552589	0.33805	0.84425	0.43507	D	AEFDGBI	0.038151	0.05356	N	0.604688180851144	0.73471	5.971443	0.395382275877115	0.61278	4.325893	0.824809765041219	0.24588	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.07	4.07	0.46726	2.644000	0.46279	4.214000	0.42550	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	12.070	0.52912	435	0.80441	.;.	.	.	.	.	.	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	1656.11	36	chr1	43156285	.	G	A	1656.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=816;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=1.27;SOR=0.745	GT:AD:DP:GQ:PL	0/1:46,28:74:99:608,0,1327	19	0	2	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	2/2:0,0,24:24:72:.:.:849,849,849,72,72,0	0	2	0	0
chr1	52881544	52881544	T	C	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001307931:exon10:c.T797C:p.L266S	.	.	425	1081	14	2	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.415	M	0.44	T	-0.280	T	0.341	T	0.738	3.688	18.74	4.34	1.948	7.136	13.965	0.520	0.119215829707	0.0002	0.000199681	0.0017	0	0	0	0	0.0002	0	0.0047	0.0002652	41	154602	rs370602817	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0031	0.0030	0	0.0001	0	0	0	0.0016	6.117e-05	0.0004	0.0035	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	9.626e-05	0	0	0	0	0	0	5.88e-05	0.0014	0.0039	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.000000	0.999522	0.47407	D	3.125	0.87999	M	0.44	0.56609	T	-4.86	0.81269	D	0.889	0.88909	-0.2798	0.75546	T	0.341	0.70656	T	10	0.082211465	0.13543	T	0.119216	0.79946	D	0.520	0.79583	.	.	0.439870908748	0.43606	0.748083354308914	0.74754	.	.	0.520553827286	0.41704	T	0.202225	0.56033	T	-0.156518	0.27297	T	0.00060651	0.70375	D	0.227593173045639	0.21836	T	0.815218	0.46991	T	0.6880125	0.77404	0.55350214	0.74179	0.6880125	0.77405	0.55350214	0.74180	-9.306	0.80974	D	.	.	0.303	0.53557	B	.;.;.	.;.;.	4.566141	0.72000	25.8	0.99603581729820212	0.74338	0.97997	0.78742	D	AEFBI	0.804818	0.72957	D	0.410942028579821	0.62022	4.411669	0.237086651926917	0.51918	3.370332	0.942816597725211	0.27539	0.646311	0.45356	0	0.844039	0.99811	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.34	4.34	0.51267	7.288000	0.78051	7.870000	0.71911	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.0:0.0:0.0:1.0	13.965	0.63714	154	0.93967	.;.;.	.	.	.	.	.	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	977.98	40	chr1	52881544	.	T	C	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.980e-01;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-7.550e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:56,45:101:99:992,0,1375	20	0	1	0
chr1	53461500	53461500	G	A	exonic	DMRTB1	.	nonsynonymous SNV	DMRTB1:NM_033067:exon2:c.G605A:p.R202H,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.006	B	0.001	B	0.351	N	1.000	N	0.14	N	.	.	-1.029	T	0.028	T	0.021	1.649	11.47	-4.71	-1.046	-0.869	7.065	0.036	.	.	0.00559105	0.0022	0	8.655e-05	0.0185	0	3.036e-05	0	0.0068	0.0019599	303	154602	rs182273822	0.0009	0.0010	0.0008	0.0011	0.0204	0.0009	0.0009	0.0192	0.0187	0	2.284e-05	0	0.0204	0	0	2.256e-05	0.0012	0.0053	0.0007	0.0007	0.0005	0.0008	0.0134	0.0006	0.0005	0.0108	0.0099	0	0	0.0001	0	0.0134	0	0	2.941e-05	0.0014	0.0056	0.296	0.14694	T	0.576	0.08624	T	0.006	0.13644	B	0.001	0.04355	B	0.350693	0.04243	N	1.376760	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.09	0.28290	N	0.071	0.04426	-1.0292	0.20713	T	0.028	0.12147	T	9	0.0038422048	0.00073	T	.	.	.	0.036	0.09122	.	.	0.102598925029	0.09809	0.16907982471015484	0.16827	0.563884083432	0.52807	0.276804327965	0.07051	T	0.002163	0.01566	T	-0.74219	0.00020	T	-0.823944	0.01374	T	0.00585529640216846	0.00064	T	0.435056	0.11905	T	0.027516162	0.01954	0.031507708	0.01749	0.027516162	0.01954	0.031507708	0.01748	-4.213	0.26939	T	.	.	0.086	0.10497	B	.	.	0.229764	0.06111	2.556	0.93477358703008961	0.23272	0.01590	0.05170	N	AEFBI	0.056243	0.10381	N	-1.35661326464569	0.03057	0.135959	-1.40262969277529	0.03226	0.1500323	0.00183402892679758	0.08930	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.11	-4.71	0.03042	-0.950000	0.03999	0.126000	0.14982	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3053:0.4689:0.2258:0.0	7.065	0.24328	513	0.74941	.	.	.	.	.	.	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	4787.11	33	chr1	53461500	.	G	A	4787.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.79;DP=1059;ExcessHet=0.1072;FS=1.180;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.423;SOR=0.765	GT:AD:DP:GQ:PL	0/1:86,85:171:99:2035,0,2036	19	0	2	0
chr1	53464679	53464679	C	T	exonic	DMRTB1	.	nonsynonymous SNV	DMRTB1:NM_033067:exon3:c.C793T:p.P265S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.896	P	0.010	N	0.983	N	1.995	M	0.48	T	-0.735	T	0.275	T	0.314	2.523	14.40	4.5	2.493	0.614	14.417	0.122	.	.	0.0091853	0.0032	0.0130	0.0006	0.0189	0	3.142e-05	0	0.0054	0.0029624	458	154602	rs75818218	0.0013	0.0013	0.0012	0.0013	0.0207	0.0012	0.0012	0.0195	0.0190	0.0127	0.0005	0	0.0207	0	0	2.35e-05	0.0025	0.0049	0.0040	0.0040	0.0037	0.0043	0.0140	0.0038	0.0037	0.0114	0.0106	0.0118	0	0.0010	0	0.0140	0	0	2.947e-05	0.0043	0.0054	0.112	0.28900	T	0.155	0.31936	T	0.996	0.68779	D	0.896	0.63555	P	0.009992	0.30113	N	0.271361	0.983349	0.24892	N	1.59	0.40313	L	0.48	0.55945	T	-1.96	0.45404	N	0.294	0.33250	-0.7352	0.58700	T	0.275	0.64670	T	10	0.00580132	0.00129	T	.	.	.	0.122	0.33800	.	.	0.371383927776	0.36753	0.25444471842682564	0.25358	1.33056252263	0.83634	0.376392602921	0.21744	T	0.022282	0.17204	T	-0.446255	0.01188	T	-0.398854	0.33517	T	0.0379303103157592	0.03320	T	0.547445	0.18775	T	0.08217487	0.18918	0.18491988	0.41574	0.08217487	0.18917	0.18491988	0.41573	-6.882	0.53166	T	.	.	0.159	0.35056	B	.	.	0.952862	0.13291	9.792	0.96807365448538218	0.31172	0.28180	0.23483	N	AEFDBI	0.076982	0.15500	N	0.0807430689633782	0.45565	2.810915	-0.081057326040277	0.36174	2.101823	0.991041321933712	0.32354	0.446893	0.09132	0	0.547309	0.14657	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	4.5	4.5	0.54382	0.515000	0.22507	-1.876000	0.04569	0.599000	0.40250	0.004000	0.16614	0.000000	0.08366	0.328000	0.25156	0.0:1.0:0.0:0.0	14.417	0.66730	502	0.75873	.	.	.	.	.	.	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	1335.11	34	chr1	53464679	.	C	T	1335.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.914;DP=796;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.314;SOR=0.646	GT:AD:DP:GQ:PL	0/1:24,31:55:99:771,0,591	19	0	2	0
chr1	53737854	53737854	G	C	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_001367484:exon2:c.C211G:p.R71G,	.	.	985	533	3	1	0	5	0.00466853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00658946	.	.	.	.	.	.	.	.	0.0019594	51	26028	rs563407853	0.0007	0.0005	0.0006	0.0007	0.0203	0.0007	0.0006	0.0187	0.0180	0.0007	0.0004	0	0	0	0.0038	0.0003	0.0017	0.0203	0.0011	0.0011	0.0007	0.0015	0.0263	0.0010	0.0009	0.0226	0.0212	0.0003	0	0.0002	0	0.0002	0	0.0137	0.0003	0.0014	0.0263	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.36884	.	.	.	.	.	.	.	0.0077798665	0.00177	T	.	.	.	.	.	.	.	0.687436468124	0.68476	.	.	.	.	.	.	.	.	.	.	-0.273979	0.11317	T	-0.631328	0.10314	T	.	.	.	0.551245	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50581	B	.	.	4.330638	0.66357	25.0	0.57066593202396976	0.05688	0.80252	0.39939	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999652062712	0.74766	0.11394	0.02926	0	0.085267	0.02369	0	0.104817	0.03109	0	0.166187	0.04126	0	0.275742	0.33901	3.93	0.959	0.18747	4.901000	0.62947	2.880000	0.35323	-0.283000	0.06393	1.000000	0.71638	1.000000	0.68203	0.191000	0.21631	0.0:0.1433:0.5603:0.2964	8.980	0.35118	492	0.76569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	185.98	24	chr1	53737854	.	G	C	185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.490e-01;DP=614;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.518;SOR=0.307	GT:AD:DP:GQ:PL	0/1:4,9:13:80:200,0,80	20	0	1	0
chr1	55039879	55039879	-	CTGCTG	exonic	PCSK9	.	nonframeshift insertion	PCSK9:NM_174936:exon1:c.42_43insCTGCTG:p.L23_G24insLL,	Hypercholesterolemia, familial, 3	.	4	1235	252	23	8	306	0.107659	.	.	260592	not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia	MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0022	0	0.0071	0	0	0.0043	0	0.0005	0.0009961	154	154602	rs35574083	0.0033	0.0032	0.0033	0.0032	0.0036	0.0032	0.0032	0.0034	0.0033	0.0006	0.0028	0.0083	5.416e-05	0.0041	0.0036	0.0035	0.0036	0.0009	0.0027	0.0027	0.0028	0.0026	0.0037	0.0025	0.0024	0.0029	0.0027	0.0010	0.0132	0.0037	0.0101	0	0.0031	0	0.0032	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9159.26	78	chr1	55039879	.	A	ACTG,ACTGCTG	9159.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=0.224;DP=1096;ExcessHet=1.7912;FS=0.533;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=1.11;SOR=0.729	GT:AD:DP:GQ:PL	0/1:25,33,0:58:99:1310,0,949,1386,1049,2434	15	0	5	0
chr1	56692425	56692425	A	-	exonic	PRKAA2	.	frameshift deletion	PRKAA2:NM_006252:exon4:c.398delA:p.H133Lfs*8,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1349.94	39	chr1	56692424	.	CA	C	1349.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.145e+00;DP=1129;ExcessHet=0.0000;FS=1.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.901;SOR=0.502	GT:AD:DP:GQ:PL	0/1:57,41:98:99:1364,0,2006	20	0	1	0
chr1	56792154	56792154	T	C	exonic	FYB2	.	nonsynonymous SNV	FYB2:NM_001004303:exon2:c.A659G:p.H220R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.985	D	0.693	P	0.179	N	1.000	N	0.895	L	1.41	T	-1.001	T	0.068	T	0.039	1.269	10.14	-4.81	-1.007	-0.906	5.729	0.022	0.00388187359209	.	.	8.281e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs755611914	4.105e-06	4.104e-06	2.723e-06	5.501e-06	5.799e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-07	0	5.799e-05	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	0.055	0.38407	T	0.153	0.32144	T	0.985	0.61118	D	0.693	0.53889	P	0.179115	0.03168	N	1.646130	1	0.08975	N	.	.	.	1.41	0.33412	T	-2.96	0.61722	D	0.036	0.01068	-1.0006	0.29746	T	0.068	0.27845	T	10	0.1108394	0.20731	T	0.003882	0.09117	T	0.022	0.04323	0.289	0.24921	0.0297737177859	0.01360	0.0779845281326122	0.07734	0.0219755234092	0.02200	.	.	.	0.012908	0.11259	T	-0.477481	0.00765	T	-0.742117	0.03802	T	0.088731050491333	0.11066	T	0.233877	0.03207	T	0.08377682	0.19360	0.094286956	0.22311	0.08377682	0.19359	0.094286956	0.22311	-3.046	0.10685	T	.	.	0.086	0.10835	B	.	.	-0.084889	0.03731	0.770	0.59242731799505399	0.06178	0.01290	0.04493	N	AEFI	0.078600	0.15862	N	-1.21069014308438	0.04843	0.2194685	-1.38379216076906	0.03424	0.1596946	2.88535054792138E-4	0.06355	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.75	-4.81	0.02948	-0.903000	0.04192	-2.086000	0.04234	-0.109000	0.15193	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3796:0.3256:0.2948	5.729	0.17299	958	0.09170	.	.	.	.	.	.	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	1412.98	37	chr1	56792154	.	T	C	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e+00;DP=928;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.300e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1427,0,1921	20	0	1	0
chr1	56943786	56943786	C	A	exonic	C8B	.	nonsynonymous SNV	C8B:NM_000066:exon8:c.G1144T:p.D382Y	C8 deficiency, type II, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	696809	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign|association	.	.	.	.	.	.	.	.	0.01	D	0.989	D	0.837	P	0.029	N	0.869	N	1.61	L	-1.81	D	-0.068	T	0.537	D	0.315	4.741	26.5	3.66	1.507	2.152	12.856	0.397	0.0767145454667	0.0059	0.00279553	0.0042	0.0017	0.0027	0	0.0044	0.0062	0.0022	0.0008	0.0043337	670	154602	rs139498867	0.0061	0.0061	0.0063	0.0059	0.0071	0.0060	0.0060	0.0070	0.0070	0.0012	0.0033	0.0085	0	0.0033	0.0028	0.0071	0.0058	0.0006	0.0043	0.0043	0.0049	0.0037	0.0068	0.0041	0.0039	0.0063	0.0061	0.0013	0.0011	0.0039	0.0121	0	0.0023	0	0.0068	0.0033	0.0006	0.005	0.63226	D	0.007	0.69154	D	0.974	0.57829	D	0.66	0.52803	P	0.029202	0.25487	N	0.458353	0.869162	0.28234	N	.	.	.	-1.81	0.83970	D	-1.54	0.37759	N	0.285	0.37509	-0.0678	0.80828	T	0.537	0.82892	D	10	0.008324385	0.00189	T	0.076715	0.72597	D	0.397	0.71163	.	.	0.879829729705	0.87865	0.7958464797366251	0.79537	0.218399245309	0.24377	0.281983196735	0.07770	T	0.060926	0.31519	T	-0.337704	0.05549	T	-0.250758	0.49742	T	0.0415903852167784	0.03980	T	0.820918	0.48005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.35992	B	.;.;.	.;.;.	2.904105	0.38503	20.7	0.99371876885480581	0.61498	0.51133	0.28825	D	AEFI	0.436931	0.49694	N	0.0171729707789439	0.42635	2.572692	-0.10819151513677	0.35059	2.023858	0.904939928671033	0.26191	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	3.66	0.41111	2.055000	0.40971	0.003000	0.13321	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.988000	0.63387	0.0:0.9173:0.0:0.0827	12.856	0.57271	869	0.31655	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2297.98	42	chr1	56943786	.	C	A	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-01;DP=924;ExcessHet=0.0000;FS=1.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.195;SOR=0.856	GT:AD:DP:GQ:PL	0/1:116,89:205:99:2312,0,3104	20	0	1	0
chr1	64550595	64550595	G	A	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_020925:exon2:c.G200A:p.R67Q,	.	.	440	1078	4	0	0	4	0.00185185	0.9880	0.704	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.934	P	0.614	P	0.000	N	1.000	D	0.55	N	2.02	T	-1.103	T	0.033	T	0.639	3.197	16.70	6.02	2.878	6.735	19.373	0.138	0.00650548327066	0.0003	0.000399361	0.0017	0.0001	8.781e-05	0	0.0005	0.0006	0.0022	0.0095	0.0013454	208	154602	rs200054556	0.0008	0.0008	0.0005	0.0010	0.0091	0.0007	0.0007	0.0086	0.0083	3e-05	6.729e-05	3.835e-05	0	0.0004	0	0.0002	0.0006	0.0091	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	2.409e-05	0	0.0003	0	0	0.0004	0	0.0002	0	0.0079	0.178	0.22138	T	0.381	0.15939	T	.	.	.	.	.	.	0.000011	0.62929	N	0.106561	0.999952	0.58761	D	.	.	.	1.98	0.21865	T	-0.12	0.08809	N	0.586	0.60664	-1.1031	0.03736	T	0.033	0.14290	T	10	0.009388179	0.00212	T	0.006505	0.17129	T	0.138	0.37187	.	.	0.082315109003	0.07666	0.5835851252226328	0.58287	0.280292788881	0.30507	0.733541369438	0.72025	T	.	.	.	-0.368753	0.03657	T	-0.295926	0.45152	T	0.0424878359371393	0.04145	T	0.955504	0.83071	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14660	B	.	.	6.633333	0.95514	35	0.99795444101556297	0.88106	0.97120	0.72807	D	AEFBI	0.763514	0.70059	D	0.489731524751536	0.66488	4.956691	0.599002424568146	0.74867	6.210919	0.999999980947258	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.02	6.02	0.97559	6.391000	0.73140	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.373	0.94485	898	0.25240	.	.	.	.	.	.	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	792.98	35	chr1	64550595	.	G	A	792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=790;ExcessHet=0.0000;FS=7.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=-1.751e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/1:55,35:90:99:807,0,1312	20	0	1	0
chr1	65392817	65392817	C	T	exonic	DNAJC6	.	nonsynonymous SNV	DNAJC6:NM_001256864:exon12:c.C1855T:p.R619C	Parkinson disease 19a, juvenile-onset, Autosomal recessive;Parkinson disease 19b, early-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.994	D	0.784	P	0.000	D	1.000	D	1.39	L	-3.19	D	0.634	D	0.786	D	0.449	4.325	22.7	5.5	2.861	4.017	19.592	0.496	0.11376291471	.	.	4.506e-05	9.972e-05	0	0	0	6.283e-05	0	0	3.23e-05	5	154602	rs770127313	1.983e-05	1.984e-05	1.541e-05	2.436e-05	6.28e-05	1.375e-05	1.184e-05	1.719e-05	1.021e-05	6.28e-05	0	4.419e-05	5.121e-05	3.858e-05	0	1.377e-05	3.432e-05	5.221e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	9.653e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	0	0	0	0.053	0.39097	T	0.051	0.47828	T	0.989	0.66517	D	0.613	0.57456	P	0.000177	0.48594	D	0.184484	1	0.81001	D	2.075	0.57047	M	-3.19	0.93231	D	-1.0	0.28290	N	0.426	0.48504	0.634	0.92345	D	0.786	0.92729	D	10	0.33690584	0.50822	T	0.113763	0.79238	D	0.496	0.78100	0.403	0.43408	0.305926609036	0.30200	0.3354023440448938	0.33453	1.03285227811	0.75478	0.59734749794	0.52531	T	0.083146	0.36987	T	0.0137012	0.53528	T	-0.0371847	0.67891	D	0.700851380825043	0.40759	D	0.976102	0.93225	D	0.096173316	0.22649	0.06890758	0.14451	0.093627006	0.21994	0.09653748	0.22942	-5.892	0.49299	T	.	.	0.182	0.39528	B	.;.;.	.;.;.	4.312879	0.65945	24.9	0.99931358659379954	0.99387	0.98762	0.86525	D	AEFBI	0.738011	0.68302	D	0.493292305193058	0.66696	4.983759	0.511836977128742	0.68785	5.268291	0.999999999959351	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.5	5.5	0.81386	4.259000	0.58627	4.888000	0.45735	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:1.0:0.0:0.0	19.592	0.95510	786	0.46839	.;.;.	.	.	.	.	.	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	1120.98	40	chr1	65392817	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=862;ExcessHet=0.0000;FS=2.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=1.13;SOR=0.450	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1135,0,1054	20	0	1	0
chr1	74620779	74620779	C	G	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon8:c.G955C:p.G319R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	2.455	M	1.06	T	-0.519	T	0.295	T	0.905	4.898	28.2	6.07	2.884	7.294	20.239	0.477	0.0520879069613	0.0008	0.000199681	0.0005	0.0003	0	0	0.0008	0.0007	0	0.0005	0.000511	79	154602	rs140864337	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0008	0.0010	0.0010	5.988e-05	6.739e-05	0	0	0.0003	0	0.0011	0.0007	0.0005	0.0006	0.0006	0.0008	0.0004	0.0010	0.0005	0.0005	0.0008	0.0008	0.0004	0	0.0001	0	0.0004	0.0002	0	0.0010	0.0005	0.0004	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999998	0.58761	D	2.76	0.80626	M	1.06	0.53516	T	-7.5	0.95732	D	0.789	0.89020	-0.5190	0.67951	T	0.295	0.66688	T	9	0.5680914	0.65164	D	0.052088	0.64927	D	0.477	0.76881	.	.	0.651006993216	0.64810	0.6788003021805634	0.67819	0.150276442505	0.16946	.	.	.	0.354765	0.72187	T	0.00608828	0.52491	T	0.175371	0.81727	D	0.173584394277893	0.18820	T	0.963804	0.86607	D	0.6113043	0.73298	0.74860346	0.85140	0.6113043	0.73299	0.74860346	0.85141	-9.766	0.73984	D	.	.	0.974	0.89987	P	.;.	.;.	4.685411	0.75020	26.3	0.99938389338693179	0.99698	0.99032	0.90231	D	AEFGI	0.932643	0.92331	D	0.927202233574425	0.93028	11.77594	0.916050711058127	0.96234	14.45489	0.999999986151371	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	7.376000	0.78918	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.239	0.98368	706	0.57215	.;.	.	.	.	.	.	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	1220.98	33	chr1	74620779	.	C	G	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.655e+00;DP=841;ExcessHet=0.0000;FS=3.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.240;SOR=1.065	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1235,0,1841	20	0	1	0
chr1	84325641	84325641	A	T	exonic	SAMD13	.	nonsynonymous SNV	SAMD13:NM_001010971:exon3:c.A100T:p.M34L	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.003	N	1.000	D	0	N	.	.	-1.085	T	0.030	T	0.303	0.803	8.223	1.38	0.278	0.481	8.482	0.061	0.00243783330396	.	.	8.263e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs767923942	4.818e-06	4.789e-06	5.483e-06	4.147e-06	0.0007	2e-06	1.29e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.752	0.05325	T	0.319	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.003451	0.34930	N	0.268510	0.978664	0.25233	N	0	0.06538	N	.	.	.	-0.72	0.21215	N	0.222	0.24883	-1.0848	0.06444	T	0.030	0.13067	T	9	0.065009475	0.08706	T	0.002438	0.04813	T	0.061	0.17616	0.201	0.11522	0.215869574891	0.21205	0.4656222787575211	0.46481	0.441456143592	0.44131	0.350690275431	0.18023	T	0.019583	0.15574	T	-0.140025	0.29887	T	-0.438913	0.28929	T	0.0767798274755478	0.09571	T	0.723828	0.33737	T	0.08759566	0.20404	0.10950135	0.26392	0.08759566	0.20404	0.10950135	0.26391	-2.541	0.06068	T	.	.	0.089	0.13315	B	.;.;.;.;.;.	.;.;.;.;.;.	1.591042	0.20349	14.71	0.77204001264953925	0.11779	0.60745	0.31284	D	AEFBI	0.120247	0.23433	N	-0.561550915355276	0.20124	1.058504	-0.386443518692489	0.25399	1.396631	0.00300975381732485	0.09862	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.06	1.38	0.21262	0.425000	0.21065	1.328000	0.25649	0.754000	0.88378	0.996000	0.39380	0.998000	0.33993	1.000000	0.97212	0.5767:0.0:0.4233:0.0	8.482	0.32208	655	0.62421	.;.;.;.;.;.	.	.	.	.	.	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	1863.98	36	chr1	84325641	.	A	T	1863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-4.810e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1878,0,1847	20	0	1	0
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	0/1:162,100,0,0:262:99:.:.:3594,0,6059,4081,6361,10442,4081,6361,10442,10442	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	0/1:162,100,0,0:262:99:.:.:3594,0,6059,4081,6361,10442,4081,6361,10442,10442	0	12	6	0
chr1	93589193	93589193	C	T	exonic	BCAR3	.	nonsynonymous SNV	BCAR3:NM_001261410:exon3:c.G440A:p.R147H	.	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.998	D	0.000	D	1.000	D	2.035	M	-0.06	T	-0.328	T	0.368	T	0.538	5.362	34	4.96	2.468	5.532	18.566	0.283	.	0.0023	0.00299521	0.0021	0.0009	0.0004	0	0.0003	0.0024	0.0023	0.0044	0.0020892	323	154602	rs137969427	0.0032	0.0032	0.0033	0.0032	0.0043	0.0032	0.0031	0.0039	0.0038	0.0007	0.0007	0.0011	5.038e-05	0.0003	0.0016	0.0037	0.0028	0.0043	0.0019	0.0019	0.0019	0.0019	0.0035	0.0017	0.0016	0.0029	0.0028	0.0007	0	0.0007	0.0003	0	9.418e-05	0.0034	0.0032	0.0014	0.0035	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	-0.06	0.63568	T	-3.33	0.66206	D	0.421	0.47115	-0.3275	0.74206	T	0.368	0.72780	T	10	0.009253174	0.00209	T	.	.	.	0.283	0.60100	.	.	0.63039333651	0.62737	0.5347690251867538	0.53401	0.653951524495	0.58502	0.668007493019	0.62554	T	0.416087	0.76914	T	-0.269542	0.11807	T	-0.159001	0.58442	T	0.0337550608146583	0.02596	T	0.985301	0.94937	D	0.43341994	0.62976	0.27022064	0.52911	0.43341994	0.62976	0.27022064	0.52910	-4.777	0.34322	T	.	.	0.263	0.49778	B	.;.;.;.	.;.;.;.	5.435323	0.90871	32	0.99954797058971256	0.99969	0.96078	0.67433	D	AEFDBHCI	0.731285	0.67841	D	0.707485585597362	0.80125	7.225114	0.677688086251069	0.80690	7.354792	0.999999999999991	0.74766	0.722319	0.85440	0	0.708844	0.79440	0	0.650271	0.49498	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	5.479000	0.66538	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	18.566	0.91069	279	0.89001	.;SH2 domain|SH2 domain;SH2 domain|SH2 domain;SH2 domain|SH2 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	1318.98	33	chr1	93589193	.	C	T	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.47;SOR=0.775	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1333,0,1238	20	0	1	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|1:89,23:112:99:0|1:99884396_T_C:383,0,3363:99884396	4	0	17	0
chr1	100484348	100484348	G	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319212:exon10:c.G155A:p.R52Q	Deafness, autosomal recessive 105, Autosomal recessive	YES	438	1058	26	0	0	26	0.0121382	.	.	655019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.064	B	0.011	B	0.013	N	1.000	D	0.52	N	3.18	T	-1.008	T	0.006	T	0.336	0.577	7.114	5.77	2.729	2.551	10.909	0.067	.	0.0010	0.00279553	0.0024	0.0002	0.0004	0	0.0002	0.0019	0.0034	0.0089	0.0020828	322	154602	rs28364897	0.0014	0.0015	0.0012	0.0017	0.0112	0.0014	0.0014	0.0090	0.0082	0.0003	0.0005	0.0178	7.699e-05	7.535e-05	0.0112	0.0006	0.0032	0.0079	0.0013	0.0013	0.0013	0.0012	0.0079	0.0011	0.0011	0.0059	0.0052	9.638e-05	0	0.0003	0.0199	0	9.463e-05	0.0034	0.0010	0.0024	0.0079	0.588	0.05844	T	0.764	0.11691	T	0.007	0.14655	B	0.011	0.15521	B	0.012910	0.29014	N	0.417620	0.799534	0.81001	D	0.495	0.13372	N	2.99	0.09262	T	0.31	0.04022	N	0.086	0.06322	-1.0075	0.27696	T	0.006	0.02093	T	10	0.0040360093	0.00078	T	.	.	.	0.067	0.19503	.	.	0.610390267789	0.60725	0.3191335331216652	0.31826	0.172812368073	0.19455	0.393316864967	0.24136	T	0.012179	0.10748	T	-0.514471	0.00473	T	-0.507354	0.21588	T	0.0158800411563387	0.00374	T	0.929307	0.73951	D	0.0688873	0.15046	0.04700738	0.06676	0.07052366	0.15541	0.05272089	0.08742	-6.47	0.52410	T	0.08458565177691202	0.04682	0.089	0.11989	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.299508	0.45283	22.1	0.81189413631035934	0.13563	0.84773	0.43862	D	AEFBI	0.221071	0.34575	N	-0.281820392719237	0.29850	1.659077	-0.0366804278245337	0.38073	2.237921	0.988745731712769	0.31614	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.919000	0.48534	6.661000	0.56247	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0851:0.0:0.9148:0.0	10.909	0.46307	248	0.90287	.;.;.;.;.;.;.	.	.	.	.	.	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	0.07143	3486.68	44	chr1	100484348	.	G	A	3486.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.06;DP=975;ExcessHet=0.3300;FS=1.991;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.214;SOR=0.820	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1150,0,908	18	0	3	0
chr1	100731239	100731239	G	A	exonic	VCAM1	.	nonsynonymous SNV	VCAM1:NM_080682:exon5:c.G970A:p.V324M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.985	D	0.633	P	0.000	D	0.928	N	2.14	M	3.92	T	-0.476	T	0.407	T	0.407	3.025	16.09	4.54	2.873	0.813	13.008	0.131	0.104907602217	.	.	1.654e-05	0	8.758e-05	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs775090221	7.53e-06	7.524e-06	6.81e-06	8.257e-06	6.727e-05	4.04e-06	2.95e-06	1.784e-05	8.94e-06	0	6.727e-05	0	0	0	0	3.599e-06	3.313e-05	2.323e-05	4.602e-05	4.597e-05	5.141e-05	4.038e-05	0.0001	2.11e-05	1.528e-05	4.766e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0	0.026	0.46910	D	0.009	0.74150	D	0.968	0.61118	D	0.633	0.51840	P	0.000114	0.50451	D	0.137089	0.99988	0.27141	N	2.825	0.82220	M	3.92	0.80899	T	-1.47	0.38734	N	0.369	0.41261	-0.4759	0.69516	T	0.407	0.75670	T	10	0.28963986	0.46545	T	0.104908	0.77974	D	0.131	0.35738	0.481	0.56142	0.665286840608	0.66247	0.2991764398091632	0.29830	0.591342767724	0.54574	0.370036572218	0.20837	T	0.186006	0.53916	T	-0.236875	0.15749	T	-0.20458	0.54212	T	0.768955647945404	0.44376	D	0.675032	0.28342	T	0.052990563	0.09962	0.072262436	0.15571	0.052990563	0.09962	0.072262436	0.15570	-5.378	0.40707	T	.	.	0.134	0.32804	B	.;.;.	.;.;.	2.858580	0.37761	20.6	0.99608209242325407	0.74634	0.20198	0.20951	N	AEFBCI	0.170142	0.29703	N	-0.00743358896577985	0.41518	2.484821	-0.143130257310191	0.33673	1.92867	0.506136719316813	0.20982	0.638212	0.43195	0	0.633656	0.55848	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.52	4.54	0.55220	1.397000	0.34152	4.495000	0.43587	-0.680000	0.04236	0.024000	0.20007	1.000000	0.68203	0.000000	0.00833	0.0844:0.0:0.9156:0.0	13.008	0.58120	427	0.81056	.;.;.	.	.	.	.	.	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	619.98	33	chr1	100731239	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=735;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-1.660e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/1:28,22:50:99:634,0,687	20	0	1	0
chr1	100874421	100874421	C	T	exonic	EXTL2	.	nonsynonymous SNV	EXTL2:NM_001033025:exon5:c.G514A:p.D172N	.	.	437	1071	14	0	0	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.984	D	0.835	P	0.000	D	1.000	D	2.26	M	-1.23	T	0.118	D	0.558	D	0.111	5.153	32	5.97	2.837	5.745	20.428	0.560	0.0740901653615	0.0003	0.000998403	0.0011	0	0.0008	0	0	0.0010	0.0023	0.0035	0.001009	156	154602	rs184097400	0.0007	0.0007	0.0005	0.0008	0.0125	0.0006	0.0006	0.0101	0.0092	0.0005	0.0017	0.0028	2.549e-05	5.691e-05	0.0125	0.0003	0.0016	0.0033	0.0009	0.0009	0.0008	0.0011	0.0044	0.0008	0.0008	0.0036	0.0032	0.0001	0	0.0044	0.0038	0	0	0.0034	0.0005	0.0024	0.0037	0.073	0.34800	T	0.039	0.51112	D	0.947	0.53479	P	0.755	0.56206	P	0.000003	0.62929	D	0.134734	1	0.81001	D	.	.	.	-1.23	0.78860	T	-4.24	0.76822	D	0.158	0.16447	0.118	0.84505	D	0.558	0.83868	D	10	0.04003334	0.02539	T	0.07409	0.71954	D	0.560	0.81946	.	.	0.90030062965	0.89930	0.5283023126551979	0.52754	0.602039044817	0.55232	0.569732666016	0.48640	T	0.670648	0.90220	D	-0.388842	0.02737	T	-0.334686	0.40946	T	0.091525709936778	0.11397	T	0.927007	0.73102	D	0.24787085	0.47768	0.39620832	0.64268	0.24787085	0.47768	0.39620832	0.64268	-4.187	0.26563	T	.	.	0.094	0.16451	B	.;.;.	.;.;.	4.972261	0.82291	27.8	0.99921826082786769	0.98787	0.97916	0.78101	D	AEFGBI	0.729770	0.67737	D	0.78205733564572	0.84970	8.439354	0.794132623236879	0.89382	9.952048	0.999999999998575	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	5.820000	0.68932	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.428	0.99077	620	0.66037	Exostosin , C-terminal;Exostosin , C-terminal;Exostosin , C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	806.98	33	chr1	100874421	.	C	T	806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e-01;DP=750;ExcessHet=0.0000;FS=2.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.47;ReadPosRankSum=0.565;SOR=1.245	GT:AD:DP:GQ:PL	0/1:19,30:49:99:821,0,454	20	0	1	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	0/1:11,8,0:19:99:303,0,438,336,462,798	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	0/1:11,8,0:19:99:303,0,438,336,462,798	1	11	8	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	0/1:90,41:137:99:157,0,1256	0	0	21	0
chr1	115286513	115286513	G	T	exonic	NGF	.	nonsynonymous SNV	NGF:NM_002506:exon3:c.C283A:p.R95S,	Neuropathy, hereditary sensory and autonomic, type V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	862013	Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.001	N	1.000	N	-0.345	N	0.18	T	-1.027	T	0.037	T	0.072	0.646	7.468	3.4	0.718	4.452	10.667	0.130	0.00806634004587	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771270154	4.104e-06	4.104e-06	2.722e-06	5.5e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	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	0.005	0.63226	D	0.69	0.05920	T	0.0	0.02946	B	0.0	0.01387	B	0.000522	0.43581	N	0.239176	1	0.08975	N	0	0.06538	N	0.18	0.60361	T	0.8	0.01866	N	0.076	0.05037	-1.0272	0.21363	T	0.037	0.15899	T	10	0.0853053	0.14387	T	0.008066	0.21393	T	0.130	0.35528	0.275	0.22687	0.280695755116	0.27685	0.2662945145590544	0.26542	0.383706664572	0.39690	0.439226210117	0.30471	T	0.136202	0.46845	T	-0.263448	0.12500	T	-0.533336	0.18955	T	0.158237083999301	0.17741	T	0.869413	0.57379	D	0.12132023	0.28531	0.14819582	0.35042	0.12132023	0.28531	0.14819582	0.35041	-2.812	0.08294	T	0.04556678471661285	0.00590	0.110	0.21163	B	.	.	0.852195	0.12243	8.787	0.96148947485896252	0.28859	0.94888	0.62678	D	AEFDBI	0.751147	0.69204	D	-0.63196461875021	0.17989	0.9304026	-0.522760648710441	0.21536	1.165482	0.994791415252906	0.33804	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.27	3.4	0.38031	4.526000	0.60280	5.887000	0.50713	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.605000	0.31514	0.1589:0.0:0.8411:0.0	10.667	0.44933	186	0.92733	.	.	.	.	.	.	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	0	0	0	0	0.02381	2578.98	33	chr1	115286513	.	G	T	2578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.596;DP=917;ExcessHet=0.0000;FS=0.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=0.999;SOR=0.633	GT:AD:DP:GQ:PL	0/1:109,97:206:99:2593,0,2783	20	0	1	0
chr1	116579664	116579664	T	A	exonic	IGSF3	.	nonsynonymous SNV	IGSF3:NM_001007237:exon10:c.A3062T:p.D1021V	.	.	264	1235	22	0	1	23	0.00882825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.028	B	0.028	B	0.044	N	1.000	N	0.69	N	3.97	T	-0.911	T	0.003	T	0.264	-0.988	0.279	0.329	0.362	0.428	.	0.014	.	0.0024	0.00359425	0.0075	0.0003	0.0038	0	0	0.0066	0.0145	0.0266	0.0001537	4	26028	rs151042895	0.0037	0.0036	0.0032	0.0041	0.0151	0.0036	0.0036	0.0144	0.0142	0.0004	0.0026	0.0011	0	9.714e-05	0.0067	0.0033	0.0030	0.0151	0.0048	0.0047	0.0044	0.0051	0.0231	0.0043	0.0042	0.0182	0.0164	0.0009	0	0.0072	0.0034	0	0	0.0069	0.0081	0.0079	0.0231	0.004	0.65419	D	0.01	0.65728	D	0.026	0.19406	B	0.028	0.21332	B	0.043632	0.23720	N	0.329841	1	0.08975	N	0.975	0.24501	L	3.97	0.03326	T	-0.89	0.24026	N	0.181	0.20528	-0.9114	0.46682	T	0.003	0.00897	T	9	0.007165462	0.00163	T	.	.	.	0.014	0.01968	.	.	0.082315109003	0.07666	0.38069498720299083	0.37984	0.806318246299	0.66480	0.316242486238	0.12852	T	0.01773	0.14416	T	-0.572228	0.00215	T	-0.577157	0.14799	T	0.0165079015313066	0.00414	T	0.370863	0.08760	T	0.120272145	0.28303	0.098585226	0.23509	0.095623605	0.22507	0.098585226	0.23508	-8.193	0.62378	D	.	.	0.111	0.21390	B	.;.;.	.;.;.	0.767106	0.11369	7.985	0.78176353375940033	0.12188	0.27456	0.23283	N	AEFBI	0.140807	0.26280	N	-1.0919722095484	0.06790	0.3135973	-1.20050571495367	0.05902	0.2825615	0.749665797228215	0.23339	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	0.329	0.329	0.15164	0.425000	0.21065	1.584000	0.27491	0.126000	0.17648	0.003000	0.16062	0.982000	0.30508	0.007000	0.07825	.	.	.	653	0.62661	.;Immunoglobulin-like domain|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	1	0	0	0	0.02381	1151.98	33	chr1	116579664	.	T	A	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=1772;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-2.920e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,40:92:99:1|0:116579663_G_GTCC:1166,0,2063:116579663	20	0	1	0
chr1	147611852	147611852	C	A	exonic	BCL9	.	nonsynonymous SNV	BCL9:NM_004326:exon4:c.C16A:p.P6T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	1.000	D	1.245	L	1.42	T	-0.981	T	0.119	T	0.63	4.965	29.0	5.57	2.640	5.520	19.541	0.163	0.0210515352103	.	.	3.298e-05	0	8.643e-05	0	0	4.5e-05	0	0	2.59e-05	4	154602	rs782589783	1.573e-05	1.573e-05	1.906e-05	1.238e-05	6.708e-05	1.048e-05	8.75e-06	1.779e-05	9.55e-06	0	6.708e-05	0	0	0	0	1.799e-05	0	0	3.946e-05	3.941e-05	3.856e-05	4.039e-05	6.549e-05	1.717e-05	1.13e-05	1.972e-05	1.124e-05	2.417e-05	0	6.549e-05	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.023	0.57104	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.265	0.31966	L	1.42	0.33189	T	-1.06	0.27669	N	0.479	0.51405	-0.9812	0.34724	T	0.119	0.41648	T	10	0.31399214	0.48845	T	0.021052	0.43757	T	0.163	0.42028	0.258	0.20002	0.301778842787	0.29777	0.6048112193609287	0.60412	0.409640644394	0.41775	0.711969971657	0.68878	T	0.072144	0.34381	T	-0.106636	0.35323	T	-0.210655	0.53633	T	0.448169261217117	0.30730	T	0.925507	0.72634	D	0.49240908	0.66646	0.4137326	0.65537	0.49240908	0.66647	0.4137326	0.65537	-4.221	0.27055	T	.	.	0.164	0.36275	B	.	.	3.524740	0.49421	22.8	0.99793269309721921	0.87839	0.95497	0.64956	D	AEFDBCI	0.605663	0.59630	D	0.698355427692815	0.79523	7.095913	0.715603962032103	0.83562	8.054728	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.719019	0.79029	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	5.654000	0.67646	5.906000	0.50954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.541	0.95268	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	0	0	0	0	0.02381	1662.98	36	chr1	147611852	.	C	A	1662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.132e+00;DP=817;ExcessHet=0.0000;FS=3.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=1.93;SOR=0.849	GT:AD:DP:GQ:PL	0/1:48,69:117:99:1677,0,1114	20	0	1	0
chr1	148120672	148120672	C	T	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon9:c.G817A:p.V273M	.	.	423	1092	6	1	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.993	D	.	.	1.000	N	2.045	M	3.73	T	-1.043	T	0.019	T	0.184	-0.837	0.582	.	0.268	0.812	.	0.048	0.000604597787084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208357754	0.0023	0.0023	0.0020	0.0025	0.0309	0.0022	0.0022	0.0295	0.0289	0.0002	0.0005	0.0002	0.0309	0.0033	0.0027	0.0007	0.0047	0.0088	0.0028	0.0028	0.0025	0.0030	0.0400	0.0025	0.0024	0.0355	0.0338	0.0003	0	0.0016	0.0003	0.0400	0.0038	0	0.0009	0.0066	0.0120	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.39	0.68882	M	.	.	.	.	.	.	0.15	0.15328	-1.0427	0.16503	T	0.019	0.07753	T	7	0.0050448477	0.00109	T	8.41E-4	0.00713	T	.	.	0.101	0.01536	0.104622674875	0.10061	0.018802681264477317	0.01834	.	.	.	.	.	0.115013	0.43327	T	-0.146153	0.28916	T	-0.447715	0.27950	T	0.406928715404172	0.29203	T	0.827217	0.49863	T	0.13172278	0.30693	0.1550105	0.36354	0.13172278	0.30693	0.1550105	0.36353	-6.267	0.48461	T	.	.	0.345	0.56952	A	.;.;.;.	.;.;.;.	2.344602	0.30048	18.32	0.50649757358518066	0.04421	0.00674	0.02901	N	AEFI	0.027830	0.02344	N	-0.384594456288528	0.26018	1.41675	-0.735739125009081	0.16074	0.8485769	1.13787496935436E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	0.861000	0.27540	1.189000	0.24752	0.417000	0.20760	0.008000	0.17931	0.039000	0.21534	0.002000	0.04165	.	.	.	.	.	.;.;.;.	.	.	.	.	.	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	2859.98	139	chr1	148120672	.	C	T	2859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.250;DP=1082;ExcessHet=0.0000;FS=1.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.55;MQRankSum=-2.142e+00;QD=15.05;ReadPosRankSum=1.87;SOR=0.586	GT:AD:DP:GQ:PL	0/1:79,111:190:99:2874,0,1954	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	0/1:31,32:63:99:855,0,835	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	0/1:382,43:425:43:43,0,10217	1	0	20	0
chr1	149488149	149488149	G	C	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1177C:p.E393Q,	.	.	530	962	28	2	0	32	0.0163599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.997	D	0.992	D	.	.	1.000	N	2.38	M	2.94	T	-1.089	T	0.035	T	0.416	1.177	9.789	0.698	0.688	1.418	4.803	0.140	0.00060867098707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474159899	0.0034	0.0026	0.0020	0.0046	0.0225	0.0033	0.0032	0.0215	0.0211	0.0002	0.0014	0.0040	0	0.0002	0.0141	0.0010	0.0026	0.0225	0.0013	0.0014	0.0012	0.0015	0.0187	0.0012	0.0011	0.0152	0.0140	0.0002	0	0.0011	0.0054	0	0	0.0070	0.0010	0.0021	0.0187	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.14622	-1.0889	0.05718	T	0.035	0.15074	T	9	0.0548667	0.05907	T	6.09E-4	0.00289	T	.	.	0.821	0.93395	0.0666544352282	0.05500	.	.	.	.	0.57171189785	0.48920	T	0.014894	0.12595	T	-0.0565468	0.43446	T	-0.319002	0.42685	T	0.621665894985199	0.37274	D	0.722728	0.39577	T	0.046422713	0.07767	0.05308705	0.08876	0.046422713	0.07767	0.05308705	0.08875	-9.616	0.71579	D	.	.	0.245	0.47923	B	.;.	.;.	0.888687	0.12623	9.147	0.98128739072125104	0.38498	0.01707	0.05422	N	AEFI	0.030943	0.03210	N	-0.304474474754588	0.28978	1.602928	-0.640070078323218	0.18468	0.9866734	1.56385238301757E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	0.698	0.17247	0.194000	0.16941	-0.724000	0.07692	0.184000	0.17816	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.803	0.12670	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	687.83	19	chr1	149488149	.	G	C	687.83	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.47;DP=363;ExcessHet=0.3300;FS=3.933;InbreedingCoeff=-0.0803;MLEAC=3;MLEAF=0.071;MQ=36.70;MQRankSum=1.35;QD=13.49;ReadPosRankSum=-8.890e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,5:23:99:.:.:147,0,618	18	0	3	0
chr1	150558482	150558482	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon15:c.C2392T:p.R798W	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	277096	not_provided|Ectopia_lentis_et_pupillae|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:CN517202|MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.143	B	0.027	B	.	.	1.000	N	1.525	L	0.64	T	-1.018	T	0.053	T	0.466	0.608	7.277	2.98	0.620	0.170	10.771	0.121	0.0107602712108	.	.	5.917e-05	0	8.696e-05	0.0001	0	6.198e-05	0	6.062e-05	7.12e-05	11	154602	rs763279620	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	0.0001	0.0003	3.828e-05	7.557e-05	0	0.0024	0.0001	0.0002	9.275e-05	5.257e-05	5.253e-05	5.139e-05	5.38e-05	0.0002	2.557e-05	1.83e-05	5.284e-05	2.834e-05	2.413e-05	0	0.0002	0.0003	0	0	0	4.411e-05	0	0	0.035	0.45039	D	0.13	0.40586	T	0.047	0.27649	B	0.018	0.19653	B	.	.	.	.	0.999998	0.08975	N	1.76	0.45711	L	0.64	0.52867	T	-2.13	0.49684	N	0.424	0.52740	-1.0175	0.24528	T	0.053	0.22501	T	9	0.21304247	0.37782	T	0.01076	0.27663	T	0.121	0.33580	0.576	0.70087	0.40318662893	0.39936	0.2945230833247012	0.29365	0.162550236098	0.18344	0.503340125084	0.39293	T	0.043368	0.26478	T	-0.319284	0.06957	T	-0.398846	0.33517	T	0.0218473518408561	0.00891	T	0.825917	0.53896	T	0.054268133	0.10388	0.101239555	0.24231	0.054268133	0.10388	0.101239555	0.24231	-10.427	0.76646	D	0.43338898746177695	0.52014	0.130	0.31532	B	.;.;.;.	.;.;.;.	2.827766	0.37270	20.5	0.98761348635264046	0.45816	0.32716	0.24653	N	AEFDBHCI	0.272829	0.38837	N	-0.791798438746134	0.13523	0.6667762	-0.768056015083062	0.15279	0.802803	0.999999317975028	0.74766	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.638787	0.57140	0	.	.	4.91	2.98	0.33575	-0.145000	0.10248	1.052000	0.23646	-0.136000	0.12710	0.000000	0.06391	1.000000	0.68203	0.222000	0.22517	0.5033:0.4967:0.0:0.0	10.771	0.45521	114	0.95383	.;.;.;.	.	.	.	.	.	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	678.98	34	chr1	150558482	.	C	T	678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.388e+00;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=-2.121e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:25,26:51:99:693,0,736	20	0	1	0
chr1	150994687	150994691	CTCTT	-	exonic	ANXA9	.	frameshift deletion	ANXA9:NM_003568:exon13:c.963_967del:p.S323Pfs*19,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1773.94	34	chr1	150994686	.	ACTCTT	A	1773.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.659;DP=803;ExcessHet=0.0000;FS=0.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.45;ReadPosRankSum=0.495;SOR=0.900	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1788,0,1250	20	0	1	0
chr1	151778966	151778966	C	T	exonic	TDRKH	.	nonsynonymous SNV	TDRKH:NM_001083963:exon6:c.G602A:p.R201Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	1.0	D	0.994	D	0.058	N	1.000	D	0.895	L	0.51	T	-1.001	T	0.148	T	0.776	4.695	26.0	5.2	2.694	3.253	15.579	0.114	0.00616694283967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913794886	1.163e-05	1.163e-05	1.361e-05	9.626e-06	0.0002	7.08e-06	5.79e-06	1.78e-05	8.93e-06	0	6.711e-05	0.0002	0	0	0.0002	6.295e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.306	0.14546	T	0.425	0.15109	T	0.499	0.46254	P	0.029	0.26717	B	0.057762	0.22454	N	0.431984	0.99997	0.81001	D	1.5	0.37844	L	0.51	0.55439	T	-1.69	0.42763	N	0.36	0.47022	-1.0014	0.29516	T	0.148	0.47344	T	10	0.20865807	0.37203	T	0.006167	0.16170	T	0.114	0.32008	0.291	0.25241	0.643776053401	0.64083	0.5216002669156984	0.52083	0.367955838784	0.38357	0.641363322735	0.58758	T	0.011059	0.09913	T	-0.0464401	0.44986	T	-0.107513	0.62810	T	0.665857434272766	0.39153	D	0.837416	0.51943	T	0.1623931	0.36313	0.09425479	0.22303	0.1623931	0.36312	0.09425479	0.22302	-10.352	0.75992	D	0.15881065335747474	0.19268	0.146	0.44656	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.847004	0.55700	23.6	0.99950842285435848	0.99944	0.94288	0.60690	D	AEFBI	0.471118	0.51680	N	0.196032386311166	0.51008	3.285642	0.306228578585037	0.55906	3.75339	0.999999992483254	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.2	5.2	0.71720	3.388000	0.52247	6.037000	0.52980	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.579	0.76161	300	0.87974	.;.;.;.;.;.;.	.	.	.	.	.	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	1902.98	39	chr1	151778966	.	C	T	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-5.290e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:77,74:151:99:1917,0,1834	20	0	1	0
chr1	151831737	151831737	G	A	exonic	RORC	.	stopgain	RORC:NM_005060:exon1:c.C28T:p.R10X,	Immunodeficiency 42, Autosomal recessive	.	349	1170	3	0	0	3	0.00128041	.	.	447134	RORC-related_disorder|Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency	.|MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	5.680	36	3.44	2.295	1.082	8.675	.	.	0.0025	0.00119808	0.0025	0.0012	0.0008	0	0.0012	0.0038	0.0011	0.0013	0.0024579	380	154602	rs17582155	0.0028	0.0028	0.0029	0.0027	0.0034	0.0027	0.0027	0.0033	0.0032	0.0004	0.0005	0.0003	0	0.0011	0.0012	0.0034	0.0022	0.0011	0.0016	0.0016	0.0019	0.0013	0.0027	0.0015	0.0014	0.0024	0.0022	0.0009	0.0077	0.0003	0.0003	0	0.0009	0	0.0027	0.0009	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.857	0.85343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302311	0.83154	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.569524	0.97731	38	0.99757197716137491	0.84772	0.50561	0.28691	D	AEFDGBHCI	0.328405	0.42908	N	0.62220236656758	0.74582	6.156992	0.439183696413607	0.64027	4.648548	0.999999999863192	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	3.44	0.38486	1.117000	0.30848	3.415000	0.38214	0.604000	0.46097	0.965000	0.33920	1.000000	0.68203	0.875000	0.41745	0.0:0.0:0.7549:0.2451	8.675	0.33332	584	0.69381	.	.	.	.	.	.	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	1164.98	33	chr1	151831737	.	G	A	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.300e-02;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-2.240e+00;SOR=0.730	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1179,0,1145	20	0	1	0
chr1	152216231	152216231	T	A	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A5398T:p.T1800S,	.	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	.	.	1.000	N	-0.755	N	4.82	T	-0.970	T	0.001	T	0.065	0.777	8.104	-1.68	-0.779	0.003	4.774	0.006	0.00628436995336	.	.	0.0004	0.0026	0.0013	0.0004	0.0002	0.0002	0.0016	0.0003	3.84e-05	1	26028	rs747556761	4.199e-05	0.0013	4.316e-05	4.08e-05	0.0008	3.319e-05	2.987e-05	0.0003	0.0002	6.565e-05	9.376e-05	3.949e-05	0.0001	1.903e-05	0.0008	2.382e-05	0.0001	0.0001	0.0004	0.0044	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0004	0	0.0013	0	0	9.062e-05	0	0.0005	0.723	0.03892	T	0.655	0.06621	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.565	0.00047	N	4.82	0.01504	T	0.52	0.02853	N	0.045	0.01740	-0.9701	0.37179	T	0.001	0.00188	T	9	0.012336522	0.00265	T	0.006284	0.16493	T	0.006	0.00375	.	.	0.206339911435	0.20273	0.015951484976090592	0.01551	.	.	0.614307284355	0.54924	T	0.014008	0.12005	T	-0.406332	0.02103	T	-0.821444	0.01423	T	0.00740461984777442	0.00085	T	0.105489	0.00786	T	0.023239922	0.01046	0.03235243	0.01958	0.023239922	0.01046	0.03235243	0.01958	-5.365	0.40582	T	.	.	0.077	0.06250	B	.	.	-0.434549	0.02086	0.194	0.73827392168679173	0.10470	0.00062	0.00453	N	AEFGBI	0.016420	0.00368	N	-1.6270208058138	0.01135	0.04932641	-1.60701516157953	0.01613	0.07318866	8.32860478702022E-5	0.04703	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.94	-1.68	0.07773	-0.505000	0.06448	.	.	-0.810000	0.03076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2859:0.0:0.1033:0.6108	4.774	0.12542	569	0.70546	.	.	.	.	.	.	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	0.05	439.82	378	chr1	152216231	.	T	A	439.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=6.55;DP=5746;ExcessHet=0.1072;FS=71.508;InbreedingCoeff=-0.0640;MLEAC=2;MLEAF=0.050;MQ=29.65;MQRankSum=0.280;QD=1.16;ReadPosRankSum=-3.850e+00;SOR=6.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,17:187:99:0|1:152216231_T_A:160,0,6854:152216231	18	0	2	1
chr1	152216237	152216237	A	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T5392G:p.S1798A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.005	B	0.005	B	.	.	1.000	N	1.32	L	4.61	T	-0.903	T	0.002	T	0.042	0.115	4.616	0.01	-0.102	0.210	6.046	0.030	0.00320718309653	.	.	3.976e-05	0.0003	0	0.0002	0.0002	0	0	0	3.84e-05	1	26028	rs200918497	4.864e-06	0.0003	1.382e-06	8.382e-06	3.182e-05	2.02e-06	1.3e-06	8.5e-07	5.8e-07	3.182e-05	2.306e-05	0	2.568e-05	0	0	3.642e-06	0	0	4.84e-05	0.0009	2.702e-05	7.083e-05	0.0001	2.209e-05	1.591e-05	5.326e-05	3.477e-05	0.0001	0	6.895e-05	0	0	0	0	1.492e-05	0	0	0.102	0.30235	T	0.564	0.08991	T	0.005	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.61	0.01851	T	-0.91	0.24460	N	0.062	0.03392	-0.9028	0.47694	T	0.002	0.00556	T	9	0.044402808	0.03392	T	0.003207	0.07057	T	0.030	0.07022	.	.	0.226586394389	0.22295	0.014213539113717704	0.01378	.	.	0.627296507359	0.56762	T	0.014355	0.12236	T	-0.383644	0.02954	T	-0.788855	0.02196	T	0.0236981678754091	0.01108	T	0.10279	0.00763	T	0.059813246	0.12200	0.046131834	0.06363	0.059813246	0.12199	0.046131834	0.06362	-7.573	0.58122	D	.	.	0.125	0.26294	B	.	.	0.147715	0.05405	1.881	0.31025658243923265	0.01727	0.02987	0.07842	N	AEFGBI	0.027282	0.02201	N	-1.63258280185297	0.01110	0.0482174	-1.65035894350604	0.01374	0.0620649	5.2093764113644E-5	0.04171	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.94	0.01	0.13403	0.193000	0.16921	.	.	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6033:0.3077:0.089:0.0	6.046	0.18986	569	0.70546	.	.	.	.	.	.	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	86.06	378	chr1	152216237	.	A	C,*	86.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.81;DP=5668;ExcessHet=0.1072;FS=64.911;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.01;MQRankSum=0.061;QD=0.24;ReadPosRankSum=-4.736e+00;SOR=6.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,14,0:176:99:0|1:152216231_T_A:100,0,6662,588,6704,7292:152216231	19	0	1	0
chr1	152216237	152216237	A	0	exonic	HRNR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	86.06	378	chr1	152216237	.	A	C,*	86.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.81;DP=5668;ExcessHet=0.1072;FS=64.911;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.01;MQRankSum=0.061;QD=0.24;ReadPosRankSum=-4.736e+00;SOR=6.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,14,0:176:99:0|1:152216231_T_A:100,0,6662,588,6704,7292:152216231	19	0	1	0
chr1	152216240	152216240	-	ATGTTGGCCACAG	exonic	HRNR	.	frameshift insertion	HRNR:NM_001009931:exon3:c.5388_5389insCTGTGGCCAACAT:p.G1797Lfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353813359	0	3.426e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.691e-05	0.0006	1.314e-05	4.135e-05	7.671e-05	8.29e-06	5.24e-06	2.034e-05	1.064e-05	7.671e-05	0	0	0	0	0	0	1.477e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	62.03	378	chr1	152216240	.	C	CATGTTGGCCACAG,*	62.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.982;DP=5553;ExcessHet=0.1072;FS=62.755;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.05;MQRankSum=0.582;QD=0.17;ReadPosRankSum=-4.845e+00;SOR=6.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,13,0:169:76:0|1:152216231_T_A:76,0,6496,546,6535,7081:152216231	19	0	1	0
chr1	152216240	152216240	C	0	exonic	HRNR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	62.03	378	chr1	152216240	.	C	CATGTTGGCCACAG,*	62.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.982;DP=5553;ExcessHet=0.1072;FS=62.755;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=30.05;MQRankSum=0.582;QD=0.17;ReadPosRankSum=-4.845e+00;SOR=6.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,13,0:169:76:0|1:152216231_T_A:76,0,6496,546,6535,7081:152216231	19	0	1	0
chr1	152219645	152219645	G	A	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.C1984T:p.R662C,	.	.	414	1078	30	0	0	30	0.0137237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.985	D	0.301	B	.	.	1.000	N	1.04	L	3.8	T	-0.953	T	0.003	T	0.109	0.400	6.171	-6.59	-1.101	-5.394	5.516	0.099	.	0.0019	0.00459265	0.0041	0.0003	0.0017	0	0.0002	0.0019	0.0066	0.0210	0.0036287	561	154602	rs145811541	0.0030	0.0030	0.0024	0.0036	0.0202	0.0029	0.0029	0.0194	0.0191	0.0002	0.0018	0.0005	2.523e-05	0.0003	0.0049	0.0020	0.0029	0.0202	0.0022	0.0022	0.0018	0.0026	0.0186	0.0020	0.0019	0.0155	0.0144	0.0004	0	0.0050	0.0003	0.0002	0.0002	0.0034	0.0021	0.0038	0.0186	0.04	0.42199	D	0.178	0.29639	T	0.985	0.61118	D	0.301	0.41090	B	.	.	.	.	1	0.08975	N	0.44	0.12706	N	3.8	0.03781	T	0.01	0.06868	N	0.174	0.18649	-0.9531	0.40433	T	0.003	0.01026	T	9	0.004604012	0.00096	T	.	.	.	0.099	0.28413	.	.	0.283371740733	0.27958	0.03652351006151714	0.03599	.	.	0.451685249805	0.32174	T	0.017134	0.14032	T	-0.701663	0.00036	T	-0.764411	0.02956	T	0.0185895663332196	0.00574	T	0.332367	0.07003	T	0.054437596	0.10444	0.042932816	0.05227	0.054437596	0.10444	0.042932816	0.05227	-6.579	0.50892	T	.	.	0.159	0.35183	B	.	.	0.677437	0.10460	7.177	0.57917465448783112	0.05875	0.00183	0.01069	N	AEFBI	0.022770	0.01181	N	-1.2043704495708	0.04935	0.2238437	-1.45988590518893	0.02682	0.1238002	0.010966494872616	0.12109	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.3	-6.59	0.01663	-1.585000	0.02215	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5962:0.0:0.1517:0.2521	5.516	0.16195	570	0.70478	.	.	.	.	.	.	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	4537.98	551	chr1	152219645	.	G	A	4537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=10453;ExcessHet=0.0000;FS=0.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.59;MQRankSum=5.53;QD=10.53;ReadPosRankSum=1.86;SOR=0.733	GT:AD:DP:GQ:PL	0/1:251,180:431:99:4552,0,7171	20	0	1	0
chr1	152310725	152310725	G	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4161A:p.H1387Q,	Ichthyosis vulgaris, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.889	P	0.424	B	.	.	1.000	N	1.52	L	3.78	T	-0.978	T	0.004	T	0.069	1.220	9.949	-3.39	-0.402	-3.275	1.060	0.038	0.00123307675472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	6.806e-06	9.625e-06	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	7.194e-06	3.311e-05	0	6.572e-06	6.562e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.013	0.53900	D	.	.	.	0.889	0.48869	P	0.424	0.45210	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	3.78	0.03836	T	0.04	0.06488	N	0.104	0.08786	-0.9780	0.35458	T	0.004	0.01159	T	9	0.10071981	0.18360	T	0.001233	0.01633	T	0.038	0.09825	0.327	0.31034	0.112648838833	0.10856	0.006649674495435494	0.00632	.	.	0.313453733921	0.12429	T	0.007323	0.06733	T	-0.36889	0.03650	T	-0.767662	0.02846	T	0.254253277179325	0.23062	T	0.377062	0.09013	T	0.07316139	0.16327	0.07220907	0.15551	0.07316139	0.16327	0.07220907	0.15551	-7.324	0.56366	T	.	.	0.242	0.47632	B	.	.	-0.012870	0.04196	1.019	0.75699281970958421	0.11176	0.00743	0.03099	N	AEFBI	0.045074	0.07329	N	-1.0417078442958	0.07751	0.3611162	-1.24976433418337	0.05135	0.243931	5.68992040908351E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.01	-3.39	0.04563	-4.592000	0.00243	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3914:0.1507:0.3043:0.1535	1.060	0.01498	587	0.69154	.	.	.	.	.	.	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	7391.98	40	chr1	152310725	.	G	T	7391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.992e+00;DP=5541;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.581;QD=12.42;ReadPosRankSum=0.212;SOR=0.674	GT:AD:DP:GQ:PL	0/1:298,297:595:99:7406,0,7731	20	0	1	0
chr1	152761247	152761247	-	C	exonic	KPRP	.	frameshift insertion	KPRP:NM_001025231:exon2:c.1660dupC:p.R554Pfs*31,	.	.	414	1089	19	0	0	19	0.00864816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00279553	0.0020	0.0006	0.0014	0	0.0005	0.0018	0.0022	0.0060	0.000461	12	26028	rs545233716	0.0024	0.0024	0.0022	0.0026	0.0065	0.0023	0.0023	0.0060	0.0058	0.0006	0.0016	0.0003	2.519e-05	0.0002	0.0062	0.0023	0.0029	0.0065	0.0015	0.0015	0.0016	0.0014	0.0064	0.0013	0.0013	0.0046	0.0040	0.0005	0	0.0017	0.0003	0.0002	0.0003	0	0.0020	0.0038	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3294.07	40	chr1	152761247	.	G	GC	3294.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=988;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=1.14;SOR=0.557	GT:AD:DP:GQ:PL	0/1:59,42:101:99:1257,0,1903	19	0	2	0
chr1	152787487	152787487	G	A	exonic	LCE1E	.	nonsynonymous SNV	LCE1E:NM_178353:exon2:c.G188A:p.S63N,	.	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.969	D	.	.	1.000	N	2.23	M	3.81	T	-1.033	T	0.018	T	0.138	0.871	8.532	1.06	0.132	1.313	4.471	0.099	.	0.0012	0.00279553	0.0020	0.0010	0.0018	0.0002	0.0005	0.0016	0.0022	0.0060	0.0017335	268	154602	rs200257409	0.0020	0.0024	0.0018	0.0021	0.0061	0.0019	0.0019	0.0056	0.0055	0.0007	0.0020	0.0003	0.0001	0.0002	0.0054	0.0018	0.0025	0.0061	0.0016	0.0016	0.0017	0.0015	0.0065	0.0014	0.0014	0.0047	0.0041	0.0009	0	0.0019	0.0003	0.0002	0.0002	0	0.0020	0.0038	0.0065	.	.	.	0.107	0.37730	T	0.968	0.56581	D	0.969	0.72001	D	.	.	.	.	0.999971	0.18612	N	1.675	0.43121	L	3.81	0.03754	T	-1.18	0.30140	N	0.288	0.37301	-1.0328	0.19554	T	0.018	0.07282	T	9	0.0080218315	0.00182	T	.	.	.	0.099	0.28413	.	.	0.264081493735	0.26024	0.015214046080580437	0.01477	0.00466472633039	0.00412	.	.	.	0.005115	0.04549	T	-0.597095	0.00152	T	-0.631935	0.10268	T	0.0298606214996596	0.01968	T	0.224478	0.05429	T	0.46671456	0.65088	0.2339394	0.48597	0.46671456	0.65089	0.2339394	0.48596	-7.42	0.57045	T	.	.	0.167	0.39237	B	.;.;.	.;.;.	2.070882	0.26331	17.08	0.68721087988848728	0.08746	0.67275	0.33374	D	AEFBI	0.063968	0.12395	N	0.10584978004884	0.46736	2.909403	-0.0212012914995712	0.38759	2.288167	6.49158064363091E-4	0.07527	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	1.06	0.19341	1.326000	0.33341	.	.	0.563000	0.28513	0.971000	0.34370	0.824000	0.27153	0.982000	0.59238	0.1358:0.2301:0.6341:0.0	4.471	0.11133	799	0.44747	.;.;.	.	.	.	.	.	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	1481.11	34	chr1	152787487	.	G	A	1481.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.480;DP=1163;ExcessHet=0.1072;FS=1.418;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.84;MQRankSum=-3.159e+00;QD=10.43;ReadPosRankSum=1.09;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,29:71:99:0|1:152787474_A_G:743,0,1026:152787474	19	0	2	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	1/2:0,14,16,0:30:99:916,355,392,551,0,761,944,426,694,1094	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	4/4:0,0,0,0,30,0,0:32:94:1365,1306,1265,1306,1265,1265,1306,1265,1265,1265,94,94,94,94,0,1306,1265,1265,1265,94,1265,1306,1265,1265,1265,94,1265,1265	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	4/4:0,0,0,0,30,0,0:32:94:1365,1306,1265,1306,1265,1265,1306,1265,1265,1265,94,94,94,94,0,1306,1265,1265,1265,94,1265,1306,1265,1265,1265,94,1265,1265	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	4/4:0,0,0,0,30,0,0:32:94:1365,1306,1265,1306,1265,1265,1306,1265,1265,1265,94,94,94,94,0,1306,1265,1265,1265,94,1265,1306,1265,1265,1265,94,1265,1265	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	4/4:0,0,0,0,30,0,0:32:94:1365,1306,1265,1306,1265,1265,1306,1265,1265,1265,94,94,94,94,0,1306,1265,1265,1265,94,1265,1306,1265,1265,1265,94,1265,1265	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	4/4:0,0,0,0,30,0,0:32:94:1365,1306,1265,1306,1265,1265,1306,1265,1265,1265,94,94,94,94,0,1306,1265,1265,1265,94,1265,1306,1265,1265,1265,94,1265,1265	0	1	0	0
chr1	155479056	155479056	G	A	exonic	ASH1L	.	nonsynonymous SNV	ASH1L:NM_001366177:exon3:c.C3814T:p.R1272W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	0.895	L	-3.24	D	0.723	D	0.777	D	0.726	3.100	16.36	5.2	2.705	6.201	13.428	0.607	0.181051740986	.	.	3.299e-05	0.0002	0	0	0	1.499e-05	0	6.061e-05	2.59e-05	4	154602	rs750816124	6.157e-06	6.156e-06	8.168e-06	4.126e-06	1.159e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	3.826e-05	0	0	0	6.295e-06	0	1.159e-05	1.975e-05	1.971e-05	2.573e-05	1.348e-05	7.262e-05	5.25e-06	2.46e-06	1.925e-05	1.034e-05	7.262e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.999728	0.48557	D	0.975	0.24501	L	-3.24	0.93474	D	-4.27	0.76254	D	0.749	0.78832	0.723	0.93463	D	0.777	0.92419	D	10	0.690878	0.71847	D	0.181052	0.85530	D	0.607	0.84559	0.194	0.10571	0.851528812338	0.85009	0.46747132932594393	0.46666	0.82108312347	0.67176	0.900439381599	0.96489	D	0.276391	0.64897	T	0.133653	0.67715	D	0.190875	0.82618	D	0.913520932197571	0.56982	D	0.975102	0.91204	D	0.51067495	0.67718	0.4294974	0.66630	0.51067495	0.67719	0.4294974	0.66630	-9.833	0.72906	D	.	.	0.856	0.81058	P	.;.	.;.	5.979800	0.94247	34	0.99907471733046893	0.97801	0.95505	0.64988	D	AEFDBCI	0.792390	0.72070	D	0.658213396327153	0.76901	6.572712	0.680068719345204	0.80867	7.395393	0.999999977737947	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.759307	0.98198	0	0.727631	0.95156	0	.	.	5.2	5.2	0.71720	5.396000	0.66042	8.721000	0.78162	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8056:0.1944	13.428	0.60484	52	0.97609	.;.	.	.	.	.	.	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	2450.98	38	chr1	155479056	.	G	A	2450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=938;ExcessHet=0.0000;FS=1.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-5.000e-01;SOR=0.819	GT:AD:DP:GQ:PL	0/1:95,97:192:99:2465,0,2247	20	0	1	0
chr1	155752120	155752120	C	T	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon30:c.G6313A:p.E2105K	.	.	0	1450	67	5	0	77	0.025865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.634	P	0.234	B	0.069	N	1.000	D	1.39	L	2.74	T	-1.019	T	0.014	T	0.411	4.129	21.3	4.66	2.439	2.700	15.177	0.066	.	0.0025	0.00579073	0.0062	0.0004	0.0026	0.0002	0.0003	0.0042	0.0089	0.0253	0.0052328	809	154602	rs201235180	0.0040	0.0040	0.0033	0.0048	0.0233	0.0040	0.0039	0.0224	0.0221	0.0006	0.0023	0.0126	7.557e-05	0.0004	0.0163	0.0027	0.0050	0.0233	0.0035	0.0035	0.0033	0.0038	0.0214	0.0033	0.0032	0.0180	0.0168	0.0008	0.0033	0.0060	0.0153	0	9.42e-05	0.0034	0.0036	0.0033	0.0214	0.059	0.37750	T	0.472	0.12176	T	0.501	0.40281	P	0.118	0.38393	B	0.069109	0.21627	N	0.393081	0.688873	0.33306	D	1.5	0.37844	L	2.74	0.11730	T	-0.91	0.24460	N	0.2	0.22098	-1.0192	0.23975	T	0.014	0.05705	T	10	0.0030045211	0.00049	T	.	.	.	0.066	0.19193	.	.	0.225033846419	0.22103	0.22807142473717912	0.22722	2.18874785332	0.95615	0.369694828987	0.20788	T	0.084368	0.37264	T	-0.494657	0.00613	T	-0.465063	0.26050	T	0.0188610296394352	0.00597	T	0.762524	0.38803	T	0.10332762	0.24422	0.089615405	0.20966	0.10332762	0.24422	0.089615405	0.20966	-2.751	0.07742	T	.	.	0.089	0.12228	B	.;.;.;.	.;.;.;.	2.628840	0.34181	19.55	0.9976408111968329	0.85335	0.93716	0.58987	D	AEFGBI	0.207875	0.33400	N	-0.089953946318772	0.37831	2.206798	-0.0311092840130838	0.38317	2.255807	0.826733732227707	0.24620	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	3.138000	0.50265	1.270000	0.25285	0.591000	0.32079	0.676000	0.28402	0.705000	0.26257	0.539000	0.29915	0.0:1.0:0.0:0.0	15.177	0.72599	68	0.97118	.;.;.;.	.	.	.	.	.	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	3196.11	43	chr1	155752120	.	C	T	3196.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=987;ExcessHet=0.1072;FS=3.078;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.72;MQRankSum=0.656;QD=14.87;ReadPosRankSum=0.918;SOR=0.902	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1392,0,1549	19	0	2	0
chr1	156285948	156285948	G	A	exonic	TMEM79	.	nonsynonymous SNV	TMEM79:NM_032323:exon2:c.G722A:p.R241H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	0.975	L	0.16	T	-0.621	T	0.242	T	0.958	5.158	32	5.65	2.637	9.160	18.290	0.603	0.0773350460187	.	0.000199681	2.571e-05	0	0	0	0	1.543e-05	0	0.0001	2.59e-05	4	154602	rs539131077	3.426e-06	4.104e-06	2.727e-06	4.133e-06	1.164e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	1.659e-05	1.164e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.056437	1	0.81001	D	1.975	0.53506	M	0.16	0.60610	T	-3.5	0.68178	D	0.889	0.88798	-0.6207	0.63959	T	0.242	0.61024	T	10	0.782586	0.77979	D	0.077335	0.72744	D	0.603	0.84345	0.648	0.78542	0.576907859032	0.57359	0.8258188470542918	0.82539	0.573721100839	0.53415	0.658024072647	0.61127	T	0.249694	0.61969	T	0.196957	0.73608	D	0.227286	0.84537	D	0.950932145118713	0.63447	D	0.910909	0.68443	D	0.37442175	0.58909	0.23905887	0.49245	0.37442175	0.58910	0.23905887	0.49244	-8.891	0.66992	D	.	.	0.489	0.64057	A	.;.	.;.	5.580567	0.92297	32	0.99956861529239205	0.99981	0.99529	0.97110	D	AEFBI	0.867437	0.78721	D	0.738392167019007	0.82147	7.691435	0.768331663551028	0.87521	9.250347	0.999999999999992	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.616094	0.41390	0	0.491896	0.07777	0	.	.	5.65	5.65	0.86881	9.081000	0.93444	11.825000	0.97352	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	18.290	0.90067	292	0.88363	.;.	.	.	.	.	.	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	1153.98	36	chr1	156285948	.	G	A	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.358e+00;DP=840;ExcessHet=0.0000;FS=5.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-7.190e-01;SOR=0.330	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1168,0,1157	20	0	1	0
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	0/1:77,18:95:73:.:.:73,0,2612	12	0	8	1
chr1	157768692	157768692	A	G	exonic	FCRL2	.	nonsynonymous SNV	FCRL2:NM_001159488:exon5:c.T605C:p.I202T	.	.	434	1084	3	0	1	4	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.35	B	0.138	B	0.002	N	1.000	N	2.19	M	2.08	T	-1.010	T	0.029	T	0.12	2.300	13.65	2.93	0.694	2.808	7.779	0.081	0.00441213541016	.	.	0.0003	0.0003	0	0	0	0.0004	0	0.0004	0.0002587	40	154602	rs16839100	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0007	0.0006	0.0002	0.0001	0	0	0	0	0.0007	0.0003	0.0002	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	0.0001	0	0	0	0	0	0	0.0004	0	0	0.003	0.68238	D	0.005	0.72224	D	0.35	0.33644	B	0.09	0.29851	B	0.001589	0.00803	N	5.452700	1	0.08975	N	1.82	0.47800	L	2.08	0.20255	T	-2.6	0.55983	D	0.109	0.09490	-1.0098	0.26981	T	0.029	0.12541	T	10	0.054101437	0.05708	T	0.004412	0.10781	T	0.081	0.23632	0.383	0.40134	0.238096912614	0.23440	0.05450911453818299	0.05392	0.0611303496898	0.06801	0.316133439541	0.12835	T	0.201168	0.55897	T	-0.47508	0.00791	T	-0.596253	0.13128	T	0.0486040751121144	0.05252	T	0.927307	0.73215	D	0.15857881	0.35669	0.20669097	0.44894	0.15857881	0.35669	0.20669097	0.44893	-4.631	0.32559	T	.	.	0.441	0.61770	A	.	.	2.063013	0.26232	17.04	0.97649544806061805	0.35131	0.09724	0.15415	N	AEFBI	0.183466	0.31079	N	-0.483288337406655	0.22629	1.209607	-0.562322770452764	0.20480	1.103537	0.00134429144425349	0.08462	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	2.93	0.33092	2.253000	0.42859	5.663000	0.49226	0.756000	0.94297	0.014000	0.18986	0.534000	0.25378	0.614000	0.31742	0.788:0.212:0.0:0.0	7.779	0.28221	764	0.49969	Immunoglobulin-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	0	0	0	0	0.02381	1124.98	34	chr1	157768692	.	A	G	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.315;SOR=0.718	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1139,0,1439	20	0	1	0
chr1	161172330	161172330	C	T	exonic	B4GALT3	.	nonsynonymous SNV	B4GALT3:NM_001199873:exon7:c.G805A:p.V269M	.	.	.	.	.	.	.	.	.	0.9908	0.884	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.994	D	0.000	D	1.000	D	1.735	L	-1.63	D	0.313	D	0.619	D	0.779	3.898	19.82	4.99	2.595	3.669	17.206	0.699	0.121521512303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.998	0.73220	D	0.994	0.82059	D	0.000027	0.55875	D	0.120739	1	0.81001	D	2.64	0.77224	M	-1.63	0.82440	D	-1.78	0.42001	N	0.555	0.58031	0.313	0.87764	D	0.619	0.86564	D	10	0.8246204	0.81647	D	0.121522	0.80231	D	0.699	0.89145	0.759	0.88811	0.899753305895	0.89876	0.8299086514954118	0.82949	1.2000544037	0.80508	0.77073007822	0.77534	T	0.506343	0.82457	D	0.243399	0.77981	D	0.11185	0.77694	D	0.933395317253103	0.60012	D	0.957038	0.83775	D	0.27922884	0.50974	0.34283784	0.60004	0.27922884	0.50974	0.34283784	0.60003	-8.09	0.61682	D	.	.	0.803	0.77423	P	.;.;.	.;.;.	5.340452	0.89608	31	0.99877126817793194	0.95410	0.92697	0.56325	D	AEFBCI	0.705980	0.66119	D	0.640097851758073	0.75728	6.357792	0.617262416584408	0.76193	6.446121	0.999999999991332	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	3.157000	0.50414	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	17.206	0.86800	311	0.87433	Galactosyltransferase, C-terminal;Galactosyltransferase, C-terminal;Galactosyltransferase, 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	0.02381	891.98	37	chr1	161172330	.	C	T	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.621;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.49;ReadPosRankSum=-1.360e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:19,32:51:99:906,0,514	20	0	1	0
chr1	161599669	161599669	C	A	exonic	FCGR2C	.	unknown	UNKNOWN,	Thrombocytopenic purpura, autoimmune, Autosomal dominant	.	7	1500	14	1	0	16	0.00530504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0014	0.0002	0.0003	0	0.0009	0.0002	0.0034	0.0089	0.0011319	175	154602	rs578124126	0.0006	0.0006	0.0003	0.0008	0.0078	0.0006	0.0005	0.0073	0.0071	3.024e-05	6.738e-05	0	2.526e-05	0.0007	0.0016	9.74e-05	0.0005	0.0078	0.0003	0.0003	0.0001	0.0004	0.0036	0.0002	0.0002	0.0022	0.0018	0	0	0	0	0	0.0004	0	0.0002	0.0005	0.0036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.223	0.25006	.	.	.	.	.	.	.	0.005688578	0.00126	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.236282	0.15827	T	-0.297744	0.44962	T	.	.	.	0.190281	0.02027	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09239	B	.	.	0.268475	0.06464	2.938	0.86187052259973818	0.16370	0.00400	0.02002	N	AEFI	0.062880	0.12117	N	.	.	.	.	.	.	3.93636508570598E-5	0.03775	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.058706	0.01089	0	.	.	0.41	0.41	0.15605	0.561000	0.23220	-0.434000	0.09203	0.276000	0.18584	0.018000	0.19461	0.001000	0.17328	0.006000	0.07323	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	34	chr1	161599669	.	C	A	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.56;DP=866;ExcessHet=0.0000;FS=3.425;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.87;MQRankSum=1.23;QD=10.87;ReadPosRankSum=-9.350e-01;SOR=1.187	GT:AD:DP:GQ:PL	0/1:54,39:93:99:1025,0,1345	20	0	1	0
chr1	165544698	165544698	C	G	exonic	LRRC52	.	nonsynonymous SNV	LRRC52:NM_001005214:exon1:c.C402G:p.N134K,	.	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.834	P	0.459	P	0.000	D	0.527	N	0.755	N	0.32	T	-1.061	T	0.076	T	0.22	2.561	14.52	2.75	0.741	2.095	10.052	0.145	0.0123735985722	0.0008	0.000199681	0.0008	0.0004	8.637e-05	0	0	0.0010	0.0033	0.0015	0.0008926	138	154602	rs138107763	0.0014	0.0014	0.0014	0.0014	0.0020	0.0013	0.0013	0.0018	0.0017	0.0002	0.0001	3.826e-05	0	0	0.0002	0.0016	0.0009	0.0020	0.0009	0.0009	0.0009	0.0009	0.0021	0.0008	0.0007	0.0014	0.0013	0.0003	0	0.0001	0	0	0	0.0034	0.0016	0	0.0021	0.035	0.43708	D	0.057	0.46406	T	0.834	0.46206	P	0.459	0.46380	P	0.000005	0.62929	D	0.137948	0.993887	0.42086	D	1.655	0.42436	L	0.32	0.58468	T	-3.39	0.66896	D	0.416	0.45615	-1.0611	0.11483	T	0.076	0.30429	T	9	0.05193326	0.05149	T	0.012374	0.30882	T	0.145	0.38592	0.566	0.68768	0.854770896266	0.85337	0.5152294145550415	0.51445	0.27918584819	0.30399	0.470459967852	0.34744	T	0.120739	0.44319	T	-0.425524	0.01578	T	-0.40864	0.32382	T	0.0442984511568608	0.04475	T	0.689231	0.29860	T	0.4510049	0.64105	0.54957724	0.73958	0.4510049	0.64105	0.54957724	0.73958	-6.706	0.51855	T	.	.	0.352	0.56690	A	.	.	3.357087	0.46327	22.3	0.99523159250617355	0.69407	0.93555	0.58537	D	AEFBI	0.503181	0.53528	D	0.0840548968266859	0.45721	2.82382	0.141862770645191	0.46712	2.912809	0.590530400759296	0.21643	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.68	2.75	0.31439	2.370000	0.43893	1.070000	0.23796	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7692:0.0:0.2308	10.052	0.41394	909	0.22467	.	.	.	.	.	.	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	8227.11	36	chr1	165544698	.	C	G	8227.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.11;DP=1402;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.099e+00;SOR=0.729	GT:AD:DP:GQ:PL	0/1:170,146:316:99:3936,0,4401	19	0	2	0
chr1	176791432	176791432	C	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon19:c.C4970G:p.P1657R,	.	.	430	990	99	3	0	105	0.0503597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.715	P	0.288	B	0.000	D	1.000	D	1.59	L	4.49	T	-0.862	T	0.007	T	0.209	2.275	13.57	4.48	1.236	2.697	11.376	0.093	.	0.0066	0.0101837	0.0138	0.0020	0.0273	0.0001	0.0074	0.0099	0.0122	0.0369	0.0123866	1915	154602	rs34602579	0.0082	0.0082	0.0069	0.0095	0.0386	0.0081	0.0080	0.0375	0.0371	0.0016	0.0228	0.0496	5.041e-05	0.0081	0.0328	0.0044	0.0115	0.0386	0.0079	0.0079	0.0072	0.0085	0.0349	0.0075	0.0073	0.0306	0.0289	0.0024	0.0099	0.0101	0.0498	0.0002	0.0099	0.0171	0.0068	0.0085	0.0349	0.022	0.48642	D	0.112	0.37037	T	0.715	0.42183	P	0.288	0.40614	B	0.000083	0.51296	D	0.130773	0.950107	0.26515	N	2.095	0.58118	M	4.49	0.02049	T	-2.06	0.47175	N	0.413	0.45331	-0.8622	0.51104	T	0.007	0.02399	T	10	0.003267467	0.00056	T	.	.	.	0.093	0.26882	.	.	.	.	0.7269670015442563	0.72640	0.198595925975	0.22241	0.285176694393	0.08225	T	0.24153	0.61007	T	-0.579169	0.00195	T	-0.57685	0.14826	T	0.0218216985432377	0.00889	T	0.50225	0.15758	T	0.059995424	0.12260	0.08987151	0.21042	0.059995424	0.12260	0.08987151	0.21042	-6.562	0.50762	T	.	.	0.077	0.06295	B	.	.	2.220156	0.28336	17.76	0.99272752400622866	0.57627	0.34067	0.24979	N	AEFI	0.189116	0.31638	N	-0.040508235531873	0.40027	2.370191	-0.0519351709435044	0.37406	2.189769	0.012405970498762	0.12323	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	4.48	0.53973	2.696000	0.46719	2.603000	0.33533	0.597000	0.34315	0.022000	0.19841	0.025000	0.21018	0.769000	0.36481	0.3268:0.6732:0.0:0.0	11.376	0.48969	701	0.57775	.	.	.	.	.	.	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	2631.11	40	chr1	176791432	.	C	G	2631.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.000e-02;DP=933;ExcessHet=0.1072;FS=0.985;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-2.550e-01;SOR=0.626	GT:AD:DP:GQ:PL	0/1:42,42:84:99:996,0,1025	19	0	2	0
chr1	180274428	180274428	T	C	exonic	LHX4	.	nonsynonymous SNV	LHX4:NM_033343:exon6:c.T1022C:p.I341T,	Pituitary hormone deficiency, combined, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1675666	Inborn_genetic_diseases|Short_stature-pituitary_and_cerebellar_defects-small_sella_turcica_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009880,MedGen:C2678408,OMIM:262700,Orphanet:85442	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.228	B	0.045	B	0.007	N	0.590	D	0.345	N	-2.38	D	-0.224	T	0.422	T	0.586	2.028	12.74	4.54	0.952	4.287	10.745	0.419	0.0211626138279	7.7e-05	.	1.647e-05	9.61e-05	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs372952844	3.078e-05	3.078e-05	3.131e-05	3.025e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	0.0004	0	0	2.519e-05	0	0	1.619e-05	3.311e-05	0.0001	7.222e-05	7.218e-05	0.0001	2.685e-05	0.0004	3.968e-05	3.125e-05	6.842e-05	4.288e-05	0.0001	0	0.0001	0	0.0004	0	0	1.47e-05	0	0	0.126	0.27194	T	0.134	0.34241	T	0.228	0.30509	B	0.045	0.24526	B	0.006586	0.31929	N	0.339055	0.589525	0.32444	D	0.345	0.11182	N	-2.38	0.88298	D	-1.06	0.27669	N	0.115	0.10340	-0.2244	0.77034	T	0.422	0.76704	T	10	0.14510599	0.27529	T	0.021163	0.43885	T	0.419	0.72855	.	.	0.957867350953	0.95742	0.22479956465904172	0.22394	0.344285718814	0.36357	0.596487820148	0.52408	T	0.245168	0.61441	T	-0.0692947	0.41439	T	-0.100645	0.63349	T	0.111683256924152	0.13596	T	0.714629	0.32694	T	0.08355197	0.19300	0.06354158	0.12602	0.08355197	0.19300	0.06354158	0.12602	-3.833	0.21298	T	.	.	0.106	0.19760	B	.	.	2.881241	0.38127	20.7	0.96877384434492975	0.31446	0.95579	0.65286	D	AEFDBI	0.299441	0.40850	N	-0.157904396751122	0.34900	1.997911	0.0267992072804931	0.40962	2.453197	0.999972482724745	0.50053	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.68	4.54	0.55220	4.275000	0.58723	6.143000	0.54081	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.1598:0.8402	10.745	0.45376	673	0.60677	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1305.98	40	chr1	180274428	.	T	C	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.290e-01;DP=919;ExcessHet=0.0000;FS=3.328;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-6.240e-01;SOR=1.042	GT:AD:DP:GQ:PL	0/1:68,54:122:99:1320,0,1825	20	0	1	0
chr1	181651376	181651376	C	G	exonic	CACNA1E	.	stopgain	CACNA1E:NM_000721:exon7:c.C990G:p.Y330X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.080	31	3.16	1.233	1.894	10.219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	9.176e-05	0	0	0	0	0	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000152	0.49130	D	0.184301	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.813	0.80964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.	.;.;.;.;High;.;.;.;.	7.541588	0.96621	36	0.99781923951723206	0.86867	0.94030	0.59902	D	AEFDBI	0.321650	0.42439	N	0.624659178573725	0.74736	6.183878	0.466905708948269	0.65809	4.871025	0.999982252266257	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.12	3.16	0.35406	1.546000	0.35787	1.050000	0.23629	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8307:0.0:0.1693	10.219	0.42363	702	0.57624	Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	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	0.25	516.78	82	chr1	181651376	.	C	G	516.78	.	AC=5;AF=0.250;AN=20;BaseQRankSum=-2.592e+00;DP=1988;ExcessHet=1.1607;FS=273.598;InbreedingCoeff=-0.3191;MLEAC=7;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.266;SOR=10.462	GT:AD:DP:GQ:PL	0/1:68,28:101:91:91,0,1293	5	0	5	11
chr1	183215528	183215528	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon3:c.G344A:p.R115Q	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	1	1494	26	1	0	28	0.00928382	.	.	277786	Junctional_epidermolysis_bullosa|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.2	B	0.041	B	0.008	N	1.000	D	1.535	L	0.06	T	-0.964	T	0.082	T	0.172	2.896	15.65	2.99	1.038	2.045	5.825	0.045	.	0.0062	0.00399361	0.0097	0.0011	0.0064	0	0.0398	0.0098	0.0198	0.0092	0.0091267	1411	154602	rs17481405	0.0099	0.0099	0.0098	0.0100	0.0116	0.0098	0.0097	0.0095	0.0093	0.0012	0.0064	0.0025	5.038e-05	0.0390	0.0116	0.0094	0.0099	0.0101	0.0089	0.0089	0.0082	0.0095	0.0095	0.0085	0.0083	0.0089	0.0087	0.0012	0.0811	0.0052	0.0023	0	0.0406	0.0068	0.0095	0.0085	0.0081	0.038	0.42783	D	0.232	0.24987	T	0.038	0.29645	B	0.016	0.23986	B	0.007652	0.31274	N	0.220313	0.999985	0.54805	D	0.96	0.23930	L	0.06	0.61798	T	-3.22	0.68532	D	0.176	0.23506	-0.9639	0.38428	T	0.082	0.32353	T	10	0.011888444	0.00258	T	.	.	.	0.045	0.12272	.	.	.	.	0.6010716398682795	0.60038	0.157538799159	0.17790	0.250994592905	0.03873	T	0.251805	0.62211	T	-0.450739	0.01118	T	-0.41227	0.31963	T	0.0173335099455068	0.00473	T	0.956004	0.83260	D	0.16999279	0.37548	0.16556077	0.38294	0.17766419	0.38745	0.14288422	0.33976	-4.465	0.30428	T	0.19664150434230024	0.25980	0.075	0.05668	B	.;.	.;.	2.385758	0.30632	18.50	0.99858570715821038	0.93729	0.86534	0.45834	D	AEFDBI	0.174293	0.30142	N	-0.170801131779992	0.34354	1.959851	-0.0690656621641113	0.36676	2.137499	0.999943393572621	0.47345	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.97	2.99	0.33673	1.347000	0.33580	0.930000	0.22772	0.676000	0.76740	0.915000	0.31815	0.347000	0.24452	0.973000	0.55318	0.213:0.0:0.6506:0.1363	5.825	0.17804	470	0.78111	.;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	rs17481405	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	917.98	37	chr1	183215528	.	G	A	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=1.77;SOR=0.712	GT:AD:DP:GQ:PL	0/1:42,38:80:99:932,0,958	20	0	1	0
chr1	193076917	193076917	G	A	exonic	RO60	.	nonsynonymous SNV	RO60:NM_001331020:exon4:c.G128A:p.R43H	.	.	.	.	.	.	.	.	.	.	.	3309643	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.979	D	0.338	B	0.000	N	0.979	D	1.875	L	1.79	T	-1.097	T	0.058	T	0.231	2.988	15.96	2.67	0.290	2.477	10.882	0.147	0.00928326107002	8.4e-05	0.000199681	5.897e-05	0.0001	8.87e-05	0	0	6.11e-05	0	6.106e-05	5.17e-05	8	154602	rs370244149	2.331e-05	2.463e-05	2.319e-05	2.344e-05	5.988e-05	1.678e-05	1.481e-05	1.666e-05	1.427e-05	5.988e-05	0	0	0	0	0	2.432e-05	6.639e-05	1.167e-05	5.917e-05	5.908e-05	0.0001	1.346e-05	8.825e-05	3.079e-05	2.211e-05	3.764e-05	2.576e-05	7.232e-05	0	0	0	0	0	0	8.825e-05	0	0	0.07	0.36709	T	0.005	0.72224	D	0.973	0.57599	D	0.269	0.39840	B	0.000046	0.53742	N	0.160164	0.979254	0.39543	D	2.005	0.54552	M	1.79	0.25509	T	-3.82	0.71997	D	0.244	0.28732	-1.0974	0.04420	T	0.058	0.24465	T	10	0.20236707	0.36354	T	0.009283	0.24366	T	0.147	0.38986	.	.	0.380052290102	0.37618	0.392598834645488	0.39174	0.20235147082	0.22657	0.282201707363	0.07801	T	0.316095	0.68766	T	-0.287091	0.09930	T	-0.468016	0.25730	T	0.281487911939621	0.24234	T	0.845515	0.60805	T	0.12779659	0.29895	0.14076512	0.33543	0.12779659	0.29895	0.14076512	0.33542	-9.297	0.69588	D	.	.	0.156	0.34602	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.992156	0.58767	24.0	0.9969871611687775	0.80453	0.92303	0.55401	D	AEFBI	0.225944	0.34996	N	0.183095601133062	0.50387	3.229231	0.197405475348614	0.49703	3.170526	0.833644742602058	0.24738	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	5.81	2.67	0.30756	2.094000	0.41344	3.915000	0.40434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.2165:0.0:0.7835:0.0	10.882	0.46152	324	0.86790	TROVE domain|TROVE domain;TROVE domain|TROVE domain;TROVE domain|TROVE domain;.;.;.;TROVE domain|TROVE 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	653.98	36	chr1	193076917	.	G	A	653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=765;ExcessHet=0.0000;FS=3.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.982;SOR=0.722	GT:AD:DP:GQ:PL	0/1:31,27:58:99:668,0,754	20	0	1	0
chr1	200911787	200911792	TTCCCG	-	exonic	INAVA	.	nonframeshift deletion	INAVA:NM_001142569:exon9:c.1294_1299del:p.F432_P433del	.	.	429	1088	4	1	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	8.321e-05	0	0.0002	0	0	6.759e-05	0	0.0002	5.82e-05	9	154602	rs777879038	7.543e-05	7.524e-05	5.729e-05	9.377e-05	0.0005	6.397e-05	5.953e-05	0.0001	0.0001	0	4.492e-05	0	0	1.902e-05	0.0005	6.935e-05	0.0001	0.0002	3.941e-05	3.937e-05	1.285e-05	6.716e-05	0.0004	1.715e-05	1.129e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	5.883e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	720.94	33	chr1	200911786	.	TTTCCCG	T	720.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.053e+00;DP=735;ExcessHet=0.0000;FS=2.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.08;MQRankSum=-1.085e+00;QD=18.02;ReadPosRankSum=0.176;SOR=0.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,19:40:99:0|1:200911786_TTTCCCG_T:735,0,805:200911786	20	0	1	0
chr1	200911793	200911793	G	A	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon9:c.G1300A:p.A434T	.	.	435	1082	4	1	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.006	B	0.008	B	0.760	N	1.000	N	0.345	N	1.49	T	-0.995	T	0.038	T	0.051	0.355	5.925	1.7	0.055	1.267	3.708	0.034	0.0419303147656	.	.	8.562e-05	0	0.0002	0	0	6.964e-05	0	0.0002	3.84e-05	1	26028	rs755916582	7.547e-05	7.524e-05	5.732e-05	9.382e-05	0.0005	6.401e-05	5.956e-05	0.0001	0.0001	0	4.492e-05	0	0	1.92e-05	0.0005	6.936e-05	0.0001	0.0002	3.94e-05	3.937e-05	1.285e-05	6.715e-05	0.0004	1.714e-05	1.129e-05	7.287e-05	3.028e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0004	0.255	0.17940	T	0.539	0.09795	T	0.006	0.13644	B	0.008	0.13708	B	0.760378	0.09628	N	0.870237	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.88	0.23808	N	0.113	0.13055	-0.9946	0.31405	T	0.038	0.16203	T	10	0.05145967	0.05031	T	0.04193	0.60190	D	0.034	0.08419	0.325	0.30711	0.043077524339	0.03247	0.3694055482341086	0.36854	1.81697506507	0.91868	.	.	.	0.002547	0.01934	T	-0.509598	0.00505	T	-0.690343	0.06369	T	0.0298145617679593	0.01960	T	0.611839	0.23263	T	0.041180566	0.06017	0.040234387	0.04303	0.041180566	0.06017	0.040234387	0.04302	-4.731	0.33777	T	0.33422020730849744	0.43218	0.079	0.11749	B	.;.	.;.	1.637254	0.20899	14.96	0.96088599257380891	0.28676	0.03289	0.08339	N	AEFDGBI	0.049419	0.08536	N	-0.967428828425485	0.09306	0.4398626	-0.957331051657803	0.10753	0.5436213	0.999761227445613	0.42728	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	4.75	1.7	0.23359	1.569000	0.36037	2.655000	0.33841	0.676000	0.76740	0.113000	0.23048	0.912000	0.28152	0.623000	0.31974	0.0945:0.1649:0.5703:0.1703	3.708	0.07938	793	0.45818	.;.	.	.	.	.	.	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	726.98	33	chr1	200911793	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.386e+00;DP=720;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.25;MQRankSum=-8.020e-01;QD=19.13;ReadPosRankSum=0.015;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,19:38:99:0|1:200911786_TTTCCCG_T:741,0,741:200911786	20	0	1	0
chr1	200911796	200911796	G	T	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon9:c.G1303T:p.G435W	.	.	435	1082	4	1	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.661	P	0.299	B	0.003	N	1.000	N	0.695	N	1.38	T	-1.006	T	0.071	T	0.47	1.884	12.26	4.75	2.189	3.390	14.688	0.190	0.135756030677	.	.	8.694e-05	0	0.0002	0	0	7.065e-05	0	0.0002	3.84e-05	1	26028	rs779669000	7.55e-05	7.525e-05	5.734e-05	9.385e-05	0.0006	6.403e-05	5.958e-05	0.0002	0.0001	0	4.493e-05	0	0	1.929e-05	0.0006	6.936e-05	0.0001	0.0002	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0004	1.714e-05	1.129e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.031	0.53788	D	0.661	0.40924	P	0.299	0.41006	B	0.003130	0.35389	N	0.228410	0.99973	0.20548	N	.	.	.	1.38	0.34050	T	-3.62	0.69593	D	0.579	0.60071	-1.0060	0.28156	T	0.071	0.29034	T	10	0.5797992	0.65785	D	0.135756	0.81822	D	0.190	0.46781	0.67	0.80803	0.0675242888579	0.06100	0.5274216825433382	0.52666	2.76950302636	0.98794	.	.	.	0.063101	0.32088	T	-0.259603	0.12947	T	-0.331243	0.41331	T	0.314848530655928	0.25612	T	0.684832	0.29327	T	0.26516032	0.49584	0.24454196	0.49923	0.26516032	0.49584	0.24454196	0.49922	-8.022	0.61220	D	0.5208218428137787	0.59311	0.295	0.52574	B	.;.	.;.	3.745757	0.53657	23.4	0.9733299195971804	0.33432	0.85910	0.45099	D	AEFDGBI	0.344049	0.43966	N	-0.0264383182626758	0.40660	2.418536	0.00350490777651215	0.39877	2.371161	0.999999967070022	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	4.75	4.75	0.59954	2.967000	0.48908	3.448000	0.38427	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.596000	0.31288	0.0:0.0:1.0:0.0	14.688	0.68676	793	0.45818	.;.	.	.	.	.	.	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	726.98	37	chr1	200911796	.	G	T	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.925e+00;DP=727;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.12;MQRankSum=-8.020e-01;QD=19.13;ReadPosRankSum=0.301;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,19:38:99:0|1:200911786_TTTCCCG_T:741,0,741:200911786	20	0	1	0
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG,	.	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21447.27	257	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	21447.27	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-9.710e-01;DP=6247;ExcessHet=0.0045;FS=0.524;InbreedingCoeff=0.2535;MLEAC=17;MLEAF=1.00;MQ=53.84;MQRankSum=-7.397e+00;QD=23.83;ReadPosRankSum=-9.608e+00;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:79,55:135:99:.:.:6586,269,0	1	3	2	15
chr1	201386508	201386508	T	C	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.A853G:p.T285A,	.	.	416	1091	15	0	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.024	N	1.000	N	-1.39	N	2.87	T	-0.939	T	0.007	T	0.032	-0.684	1.024	-1.09	0.285	-0.221	3.288	0.019	0.00215725915153	.	0.000998403	0.0034	0.0003	0.0019	0	0.0002	0.0055	0.0050	0.0004	0.0030595	473	154602	rs199579589	0.0031	0.0031	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0005	0.0029	0.0018	2.529e-05	0.0002	0.0068	0.0036	0.0029	0.0007	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0041	0.0040	0.0005	0	0.0041	0.0017	0	0.0003	0.0068	0.0046	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	0.023539	0.01594	N	2.147060	1	0.08975	N	-0.49	0.02651	N	2.87	0.10386	T	0.31	0.04022	N	0.047	0.01911	-0.9386	0.42837	T	0.007	0.02558	T	10	0.0033936203	0.00059	T	0.002157	0.04043	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06471795420376389	0.06410	0.101017976049	0.11413	0.271386504173	0.06323	T	0.030787	0.21738	T	-0.766274	0.00014	T	-0.872109	0.00723	T	0.000960221312585339	0.00009	T	0.336666	0.07200	T	0.014417047	0.00092	0.017198384	0.00027	0.014417047	0.00092	0.017198384	0.00027	-2.898	0.09123	T	.	.	0.059	0.00754	B	.;.	.;.	-0.565584	0.01668	0.119	0.17251376477950772	0.00495	0.00580	0.02616	N	AEFBCI	0.030474	0.03075	N	-1.58242822399693	0.01355	0.05902909	-1.49155796214791	0.02413	0.1109366	0.999631973349128	0.41205	0.732398	0.92422	0	0.626922	0.53725	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.47	-1.09	0.09397	-0.913000	0.04150	-1.896000	0.04535	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2428:0.3668:0.0:0.3904	3.288	0.06532	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	0.04762	1181.11	33	chr1	201386508	.	T	C	1181.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.619;DP=1049;ExcessHet=0.1072;FS=5.365;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=1.37;SOR=0.370	GT:AD:DP:GQ:PL	0/1:48,19:67:99:434,0,1395	19	0	2	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	0/1:129,58:187:99:.:.:481,0,2700	10	0	11	0
chr1	205272107	205272107	G	A	exonic	TMCC2	.	nonsynonymous SNV	TMCC2:NM_001297611:exon4:c.G1438A:p.V480M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.978	D	0.586	P	0.003	N	0.911	D	0.2	N	1.46	T	-0.966	T	0.079	T	0.174	2.238	13.44	4.17	1.368	3.239	13.285	0.021	0.00772779029075	0.0002	.	3.315e-05	0	0	0	0	6.029e-05	0	0	3.88e-05	6	154602	rs140763897	8.08e-05	8.072e-05	7.9e-05	8.262e-05	9.182e-05	6.874e-05	6.427e-05	7.693e-05	7.18e-05	8.964e-05	8.949e-05	0	0	0	0	9.182e-05	0.0001	2.319e-05	9.199e-05	9.194e-05	8.993e-05	9.414e-05	0.0001	5.528e-05	4.365e-05	4.765e-05	3.339e-05	9.652e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.189	0.21224	T	0.411	0.14500	T	0.409	0.35027	B	0.043	0.24256	B	0.002583	0.36278	N	0.172911	0.911096	0.36413	D	0.895	0.22405	L	1.43	0.43672	T	0.18	0.05310	N	0.369	0.46274	-0.9658	0.38053	T	0.079	0.31526	T	10	0.15322053	0.28927	T	0.007728	0.20510	T	0.021	0.04004	.	.	0.579957930997	0.57666	0.6338500757943966	0.63319	0.772811304884	0.64862	0.786911249161	0.79972	T	0.027126	0.19931	T	-0.350741	0.04681	T	-0.51589	0.20713	T	0.14053837954998	0.16322	T	0.931907	0.74605	D	0.09943963	0.23469	0.08888256	0.20752	0.09943963	0.23469	0.08888256	0.20751	-8.122	0.63758	D	.	.	0.127	0.27009	B	.;.;.;.;.	.;.;.;.;.	3.326741	0.45779	22.2	0.9958454219456202	0.73218	0.96219	0.68083	D	AEFGBI	0.636803	0.61582	D	0.043572024415287	0.43846	2.669752	0.150072282295071	0.47145	2.949244	0.999955150218683	0.48110	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	5.08	4.17	0.48303	2.845000	0.47954	6.491000	0.55760	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0771:0.0:0.9229:0.0	13.285	0.59673	657	0.62240	.;.;.;.;.	.	.	.	.	.	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	1142.98	50	chr1	205272107	.	G	A	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=879;ExcessHet=0.0000;FS=0.931;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=0.779;SOR=0.510	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1157,0,829	20	0	1	0
chr1	205526105	205526105	C	T	exonic	CDK18	.	nonsynonymous SNV	CDK18:NM_002596:exon6:c.C497T:p.T166M	.	.	8	1479	32	3	0	38	0.0126836	.	.	2815999	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.979	D	0.000	D	1.000	D	3.61	H	0.61	T	0.075	D	0.406	T	0.896	4.766	26.7	4.78	2.194	7.788	16.4	0.627	.	0.0033	0.00279553	0.0041	0.0003	0.0019	0	0.0012	0.0052	0.0096	0.0070	0.0038227	591	154602	rs17850752	0.0045	0.0045	0.0043	0.0047	0.0139	0.0045	0.0044	0.0114	0.0105	0.0008	0.0029	0.0228	5.038e-05	0.0009	0.0139	0.0043	0.0068	0.0070	0.0034	0.0034	0.0037	0.0031	0.0101	0.0032	0.0031	0.0079	0.0071	0.0011	0	0.0022	0.0225	0	0.0003	0.0102	0.0044	0.0019	0.0101	0.016	0.51853	D	0.03	0.92824	D	0.999	0.77913	D	0.965	0.71173	D	0.000000	0.84330	D	0.051490	1	0.81001	D	.	.	.	0.61	0.53516	T	-5.69	0.88224	D	0.878	0.87590	0.075	0.83721	D	0.406	0.75621	T	10	0.012561977	0.00269	T	.	.	.	0.627	0.85615	.	.	0.62009270483	0.61701	0.6702756738008796	0.66965	0.726517213602	0.62515	0.851342618465	0.89817	D	0.094007	0.63036	T	-0.0112464	0.50091	T	0.214655	0.83904	D	0.221596494317055	0.21543	T	0.966303	0.87634	D	0.5096678	0.67660	0.4107012	0.65323	0.5096678	0.67661	0.4107012	0.65323	-11.355	0.82595	D	.	.	0.722	0.84501	P	.;.;.;.;.	.;.;.;.;.	5.552450	0.92063	32	0.99923435466855648	0.98917	0.97868	0.77733	D	AEFBI	0.954994	0.97250	D	0.906367927603744	0.92068	11.21586	0.814072466696038	0.90753	10.55341	0.999999999998759	0.74766	0.732398	0.92422	0	0.627178	0.54094	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.78	4.78	0.60666	7.897000	0.85944	7.677000	0.65097	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.4	0.83475	809	0.43032	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	954.98	40	chr1	205526105	.	C	T	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=790;ExcessHet=0.0000;FS=9.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.022;SOR=1.516	GT:AD:DP:GQ:PL	0/1:50,36:86:99:969,0,1211	20	0	1	0
chr1	205915010	205915010	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.G2546A:p.R849Q,	.	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.947	P	0.199	B	0.000	N	1.000	N	0	N	-3.25	D	-0.322	T	0.403	T	0.061	1.529	11.06	2.76	0.334	-0.025	12.608	0.300	.	0.0039	0.00758786	0.0076	0.0012	0.0028	0.0122	0.0011	0.0057	0.0066	0.0228	0.0072315	1118	154602	rs140760240	0.0060	0.0060	0.0053	0.0066	0.0283	0.0058	0.0058	0.0247	0.0234	0.0013	0.0038	0.0086	0.0104	0.0009	0.0283	0.0047	0.0069	0.0228	0.0046	0.0046	0.0046	0.0047	0.0155	0.0044	0.0042	0.0127	0.0117	0.0013	0	0.0041	0.0087	0.0133	0.0004	0.0102	0.0059	0.0047	0.0155	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000003	0.00162	N	14.346700	1	0.08975	N	.	.	.	-3.25	0.93532	D	0.0	0.07008	N	0.071	0.04426	-0.3220	0.74366	T	0.403	0.75338	T	10	0.0027073324	0.00042	T	.	.	.	0.300	0.62068	.	.	0.194818534648	0.19098	0.01893306541877592	0.01847	0.157990632338	0.17844	0.204608500004	0.00603	T	.	.	.	-0.420421	0.01699	T	-0.359096	0.38158	T	0.0319549881320626	0.02299	T	0.394461	0.09873	T	.	.	.	.	.	.	.	.	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.	.;.	0.554397	0.09227	6.012	0.63638908723729615	0.07277	0.03938	0.09333	N	AEFGBI	0.081607	0.16514	N	-1.3979216659568	0.02658	0.1176788	-1.38142597711257	0.03449	0.1609509	0.992175131580337	0.32745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.59	2.76	0.31527	0.003000	0.12984	0.330000	0.17274	-1.718000	0.00733	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.9104:0.0:0.0896	12.608	0.55889	818	0.41518	.;.	.	.	.	.	.	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	0.07143	8152.68	35	chr1	205915010	.	C	T	8152.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.648;DP=1511;ExcessHet=0.3300;FS=1.100;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-3.760e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/1:116,104:220:99:2573,0,2937	18	0	3	0
chr1	209634623	209634623	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon5:c.G388A:p.G130S	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1879050	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.992	D	0.656	P	0.041	N	0.739	D	0.19	N	-1.16	T	-0.439	T	0.283	T	0.342	2.909	15.69	4.27	2.232	4.153	10.263	0.258	0.0701824915475	.	.	6.984e-05	0.0001	9.301e-05	0	0	0	0	0.0004	5.17e-05	8	154602	rs769334793	1.984e-05	1.984e-05	9.531e-06	3.026e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0	2.698e-06	3.314e-05	0.0003	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	0.162	0.35726	T	0.257	0.30045	T	0.992	0.64738	D	0.656	0.52685	P	0.040873	0.24011	N	0.434279	0.739315	0.33804	D	1.235	0.30780	L	-1.16	0.78082	T	-0.68	0.19509	N	0.379	0.42247	-0.4392	0.70757	T	0.283	0.65498	T	10	0.31334627	0.48786	T	0.070182	0.70933	D	0.258	0.56959	0.494	0.58206	0.86423548863	0.86292	0.5501809059484342	0.54944	0.507590868077	0.48939	0.360830128193	0.19507	T	0.15756	0.50021	T	-0.224705	0.17356	T	-0.244393	0.50368	T	0.23976357281208	0.22408	T	0.825817	0.51993	T	0.1420785	0.32711	0.13239014	0.31771	0.1420785	0.32711	0.13239014	0.31770	-4.667	0.33002	T	.	.	0.106	0.22609	B	.;.;.;.	.;.;.;.	3.975341	0.58407	24.0	0.99795636170021795	0.88106	0.90071	0.50965	D	AEFDBCI	0.640718	0.61831	D	0.198367332307597	0.51121	3.295888	0.229124585037969	0.51469	3.329246	0.999999859301751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	4.380000	0.59348	5.880000	0.50633	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.9079:0.0:0.0921	10.263	0.42618	937	0.14592	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, 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	1	0	0	0	0	0	0	0.04762	4741.13	34	chr1	209634623	.	C	T,A	4741.13	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.25;DP=909;ExcessHet=0.1072;FS=1.009;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=0.532;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:54,0,62:116:99:0|1:209634623_C_A:2433,2595,4791,0,2196,2009:209634623	19	0	1	0
chr1	209634623	209634623	C	A	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon5:c.G388T:p.G130C	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	278682	Inborn_genetic_diseases|Junctional_epidermolysis_bullosa	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.041	N	0.919	D	1.78	L	-1.37	T	0.264	D	0.584	D	0.527	3.219	16.79	4.27	2.232	4.153	10.263	0.595	0.347312962355	.	.	6.984e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs769334793	2.737e-05	2.736e-05	1.225e-05	4.264e-05	0.0004	2.063e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0.0003	8.994e-07	4.97e-05	0.0004	1.973e-05	1.97e-05	1.286e-05	2.694e-05	0.0006	5.25e-06	2.46e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.007	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.040873	0.24011	N	0.434279	0.919379	0.36632	D	2.48	0.72069	M	-1.37	0.80214	T	-2.54	0.55025	D	0.586	0.60664	0.264	0.86968	D	0.584	0.85079	D	10	0.49766478	0.61362	T	0.347313	0.92175	D	0.595	0.83911	0.59	0.71874	0.941097715605	0.94048	0.7029622431560919	0.70237	0.551627245893	0.51996	0.403543412685	0.25561	T	0.451514	0.79220	T	-0.117506	0.33531	T	-0.100589	0.63352	T	0.486158907413483	0.32123	T	0.836816	0.56877	T	0.7056676	0.78368	0.47298768	0.69450	0.7056676	0.78369	0.47298768	0.69451	-11.836	0.84042	D	.	.	0.554	0.67711	A	.;.;.;.	.;.;.;.	4.672407	0.74688	26.2	0.99745700666787718	0.83852	0.93393	0.58097	D	AEFDBCI	0.728931	0.67680	D	0.525015320884231	0.68573	5.235883	0.456130249703696	0.65112	4.782694	0.999999859301751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	4.380000	0.59348	5.880000	0.50633	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.9079:0.0:0.0921	10.263	0.42618	937	0.14592	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	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	0.04762	4741.13	34	chr1	209634623	.	C	T,A	4741.13	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.25;DP=909;ExcessHet=0.1072;FS=1.009;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=0.532;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:54,0,62:116:99:0|1:209634623_C_A:2433,2595,4791,0,2196,2009:209634623	19	0	1	0
chr1	210404521	210404521	C	T	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170587:exon5:c.C529T:p.R177C	.	.	433	1080	6	3	0	12	0.00552486	.	.	732076	HHAT-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.18	T	0.919	P	0.263	B	0.000	D	1.000	D	0.55	N	-0.75	T	-0.627	T	0.234	T	0.455	3.651	18.56	5.54	2.605	4.834	19.113	0.166	.	.	0.00119808	0.0015	0	0.0003	0.0001	0	4.496e-05	0	0.0106	0.0012742	197	154602	rs567439002	0.0007	0.0007	0.0004	0.0011	0.0103	0.0007	0.0007	0.0097	0.0095	2.988e-05	0.0002	0	7.557e-05	0	0.0019	0.0001	0.0005	0.0103	0.0004	0.0004	0.0002	0.0006	0.0093	0.0003	0.0003	0.0072	0.0064	4.81e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0093	0.265	0.20002	T	0.313	0.22291	T	0.849	0.46879	P	0.221	0.37837	B	0.000000	0.84330	D	0.052004	0.999858	0.81001	D	1.2	0.30300	L	-0.75	0.74053	T	-0.66	0.30964	N	0.194	0.34012	-0.6272	0.63689	T	0.234	0.60124	T	10	0.0092179775	0.00208	T	.	.	.	0.166	0.42578	.	.	0.556811950826	0.55341	0.6371672150338493	0.63650	0.173413079076	0.19527	0.467575103045	0.34348	T	0.298579	0.67113	T	-0.323856	0.06587	T	-0.230011	0.51771	T	0.0490354503941191	0.05329	T	0.933207	0.74971	D	0.20897584	0.43151	0.15171027	0.35725	0.15374242	0.34834	0.12962076	0.31161	-10.988	0.79593	D	.	.	0.198	0.47762	B	.;.;.;.;.;.	.;.;.;.;.;.	4.006484	0.59070	24.1	0.99933265455926812	0.99488	0.81870	0.41189	D	AEFBI	0.304199	0.41197	N	0.210594620591557	0.51711	3.350313	0.354722292240869	0.58793	4.052103	0.999996005973975	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.615948	0.41167	0	0.616125	0.45549	0	.	.	5.54	5.54	0.82907	4.969000	0.63449	7.541000	0.60087	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:1.0:0.0:0.0	19.113	0.93307	700	0.57880	.;.;.;.;.;.	.	.	.	.	.	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	1864.11	52	chr1	210404521	.	C	T	1864.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.350e-01;DP=859;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.511;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,24:57:99:0|1:210404521_C_T:902,0,1308:210404521	19	0	2	0
chr1	216246872	216246872	G	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon13:c.C2522A:p.S841Y	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	57649	not_specified|Usher_syndrome_type_2A|not_provided|Retinitis_pigmentosa|Progressive_cone_dystrophy_(without_rod_involvement)|Usher_syndrome|Hearing_impairment	MedGen:CN169374|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C0271092|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.977	D	0.001	D	1.000	D	1.48	L	0.05	T	-0.513	T	0.307	T	0.744	2.517	14.38	6.03	2.861	5.651	20.557	0.426	.	0.0053	0.00159744	0.0063	0.0021	0.0007	0	0.0144	0.0092	0.0099	0.0011	0.0063389	980	154602	rs111033282	0.0071	0.0071	0.0073	0.0069	0.0081	0.0069	0.0069	0.0079	0.0079	0.0013	0.0013	0.0009	0	0.0140	0.0035	0.0081	0.0058	0.0014	0.0054	0.0054	0.0056	0.0053	0.0078	0.0051	0.0050	0.0072	0.0070	0.0015	0	0.0043	0.0014	0	0.0139	0.0034	0.0078	0.0047	0.0010	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.977	0.73820	D	0.000666	0.42516	D	0.000000	0.999973	0.53665	D	1.5	0.37844	L	0.05	0.61923	T	-2.57	0.60507	D	0.614	0.68255	-0.5131	0.68173	T	0.307	0.67804	T	10	0.009670943	0.00218	T	.	.	.	0.426	0.73372	.	.	0.973715272946	0.97343	0.7469224423326226	0.74638	0.253178669661	0.27889	0.404044389725	0.25631	T	0.094549	0.39438	T	-0.221333	0.17811	T	-0.082745	0.64703	T	0.0251198657723426	0.01289	T	0.764624	0.39166	T	0.1728097	0.37993	0.27341396	0.53260	0.2587229	0.48922	0.2422785	0.49644	-7.443	0.57208	T	0.7988940528498266	0.87603	0.155	0.34227	B	.;.	.;.	3.560151	0.50089	22.9	0.99346482966849348	0.60412	0.95785	0.66143	D	AEFDGBIJ	0.613596	0.60123	D	0.47911030691727	0.65871	4.877345	0.424038476179719	0.63066	4.533223	0.999567091052158	0.40425	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	3.951000	0.56392	9.895000	0.82304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.262000	0.23568	0.0:0.0:1.0:0.0	20.557	0.99307	869	0.31655	Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	1751.98	34	chr1	216246872	.	G	T	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=863;ExcessHet=0.0000;FS=1.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-2.191e+00;SOR=0.560	GT:AD:DP:GQ:PL	0/1:94,70:164:99:1766,0,2585	20	0	1	0
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:6,3,0:9:89:89,0,243,108,252,360	8	0	12	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	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	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:54,30,5:89:99:120,0,778,233,821,1077	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:54,30,5:89:99:120,0,778,233,821,1077	3	0	12	4
chr1	227735219	227735219	C	G	exonic	JMJD4	.	nonsynonymous SNV	JMJD4:NM_001161465:exon1:c.G193C:p.D65H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.682	P	0.288	B	0.276	N	1.000	N	0	N	2.7	T	-1.020	T	0.020	T	0.077	2.195	13.30	0.033	-0.084	-0.044	5.654	0.030	0.0152716184731	.	.	1.711e-05	0	0	0.0003	0	0	0	0	6.5e-06	1	154602	rs754645573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.119	0.36101	T	0.328	0.41464	B	0.095	0.40614	B	0.276375	0.03804	N	1.594540	1	0.19599	N	0	0.06538	N	2.7	0.12162	T	-0.42	0.14193	N	0.113	0.17691	-1.0201	0.23682	T	0.020	0.08453	T	10	0.098368615	0.17780	T	0.015272	0.35904	T	0.030	0.07022	0.323	0.30387	0.235038932564	0.23097	0.5343508952673444	0.53360	0.187867217933	0.21109	0.632628142834	0.57518	T	0.001344	0.08431	T	-0.471902	0.00827	T	-0.730988	0.04283	T	0.118319750493624	0.14265	T	0.323368	0.06588	T	0.048998628	0.08630	0.061080582	0.11737	0.048998628	0.08629	0.061080582	0.11737	-4.441	0.30109	T	.	.	0.103	0.19879	B	.;.;.;.	.;.;.;.	0.871589	0.12444	8.978	0.85603146365765548	0.15996	0.00570	0.02584	N	AEFGBHCI	0.030716	0.03146	N	-0.879178227094881	0.11339	0.5466704	-0.959516442359865	0.10703	0.5407521	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.36	0.033	0.13497	0.764000	0.26197	.	.	-0.209000	0.08382	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.203:0.3458:0.4511:0.0	5.654	0.16911	716	0.55970	.;.;.;.	.	.	.	.	.	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	1498.98	42	chr1	227735219	.	C	G	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=2029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.580e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1513,0,1244	20	0	1	0
chr1	228279394	228279394	T	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon27:c.T7346C:p.V2449A	.	.	2	1513	7	0	0	7	0.00230795	.	.	696541	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.997	D	0.894	P	0.001	D	1.000	D	2.81	M	1.0	T	-0.578	T	0.200	T	0.378	2.851	15.50	4.47	1.791	7.798	14.048	0.223	0.237530812774	0.0062	0.00219649	0.0052	0.0007	0.0015	0	0.0093	0.0071	0.0046	0.0038	0.0052328	809	154602	rs200720682	0.0072	0.0071	0.0074	0.0069	0.0082	0.0070	0.0070	0.0081	0.0080	0.0010	0.0025	0.0018	2.521e-05	0.0088	0.0014	0.0082	0.0058	0.0034	0.0051	0.0051	0.0056	0.0047	0.0086	0.0048	0.0047	0.0080	0.0078	0.0012	0.0033	0.0017	0.0014	0	0.0089	0	0.0086	0.0038	0.0031	0.036	0.45039	D	0.003	0.92824	D	0.992	0.64738	D	0.798	0.58097	P	0.000625	0.42799	D	0.092821	0.760936	0.81001	D	2.685	0.78553	M	1.0	0.41392	T	-2.89	0.60665	D	0.5	0.53269	-0.5777	0.65708	T	0.200	0.55667	T	10	0.009488314	0.00214	T	0.237531	0.88548	D	0.223	0.52023	.	.	0.533276065955	0.52977	0.09685785480388628	0.09617	0.486009333891	0.47472	0.67583501339	0.63672	T	0.08595	0.37616	T	-0.376982	0.03255	T	-0.302608	0.44449	T	0.0566611394281673	0.06632	T	0.736726	0.38629	T	0.23640424	0.46490	0.20211934	0.44225	0.23794612	0.46666	0.20211934	0.44224	-10.418	0.76374	D	.	.	0.793	0.77204	P	.;.;.;.;.;.	.;.;.;.;.;.	3.397010	0.47056	22.4	0.90975387505068761	0.20225	0.98696	0.85696	D	AEFDBI	0.847991	0.76483	D	0.529113742556226	0.68819	5.269975	0.430530085280868	0.63474	4.582038	0.999999963369745	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.47	4.47	0.53770	7.412000	0.79304	5.946000	0.51564	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0:0.0:0.0:1.0	14.048	0.64238	433	0.80627	.;.;.;.;.;.	.	.	.	.	.	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	0.04762	2563.11	38	chr1	228279394	.	T	C	2563.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=946;ExcessHet=0.1072;FS=1.117;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.26;SOR=0.784	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1081,0,1296	19	0	2	0
chr1	228372322	228372322	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon94:c.C21544T:p.R7182C	.	.	0	1520	1	1	0	3	0.000985869	.	.	2398097	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.009	B	0.002	B	.	.	1.000	N	0.695	N	-0.21	T	-1.028	T	0.057	T	0.425	2.456	14.17	2.74	0.565	0.424	5.439	0.034	0.0255746609423	0.0002	.	0.0004	0	0	0	0.0034	0.0005	0.0037	0.0002	0.000194	30	154602	rs202143056	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.057e-05	0.0002	3.93e-05	5.306e-05	0.0016	0.0002	0.0002	0.0002	4.941e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	9.692e-05	0.0001	7.894e-05	0	0	0.0002	0	0.0002	0.0008	0	0.0002	0	0	0.0	0.91255	D	0.002	0.79402	D	0.009	0.15093	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	-0.21	0.66294	T	-3.1	0.76980	D	0.238	0.28732	-1.0275	0.21266	T	0.057	0.23791	T	9	0.014043361	0.00296	T	0.025575	0.48542	D	0.170	0.43303	.	.	0.706672402236	0.70412	0.2039103926499252	0.20308	0.375411668269	0.38996	0.304658412933	0.11100	T	0.226467	0.59150	T	-0.248941	0.14228	T	-0.289387	0.45837	T	0.100250926564212	0.12385	T	0.864214	0.56114	D	0.13178375	0.30707	0.12463486	0.30040	0.13178375	0.30707	0.12463486	0.30039	-4.993	0.36764	T	.	.	0.110	0.21277	B	.;.;.;.	.;.;.;.	2.160279	0.27519	17.49	0.952373707052945	0.26476	0.15583	0.18983	N	AEFDBCI	0.124049	0.23993	N	-0.587309310166345	0.19328	1.010758	-0.688933147010927	0.17236	0.9156224	0.999974745778036	0.50053	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.63	2.74	0.31352	0.539000	0.22885	2.783000	0.34747	0.599000	0.40250	0.000000	0.06391	0.071000	0.22219	0.000000	0.00833	0.1981:0.7:0.0:0.1019	5.439	0.15796	428	0.80967	.;.;.;.	.	.	.	.	.	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	1540.98	67	chr1	228372322	.	C	T	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1504;ExcessHet=0.0000;FS=0.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-4.940e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1555,0,1431	20	0	1	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.941	D	0.000	D	1.000	D	1.905	M	0.82	T	-0.656	T	0.275	T	0.662	5.259	33	5.5	2.576	8.174	19.015	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	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	461.45	80	chr1	229659277	.	G	A	461.45	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.008e+00;DP=1854;ExcessHet=0.3300;FS=260.818;InbreedingCoeff=-0.3184;MLEAC=6;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.874;SOR=10.150	GT:AD:DP:GQ:PL	0/1:81,38:119:79:79,0,1682	4	0	3	14
chr1	235766255	235766255	G	A	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon21:c.C5945T:p.T1982I	Chediak-Higashi syndrome, Autosomal recessive	.	5	1515	2	0	0	2	0.000659631	.	.	206776	not_specified|not_provided|Chédiak-Higashi_syndrome|Autoinflammatory_syndrome|LYST-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.004	B	0.000	N	1.000	D	1.87	L	0.03	T	-0.885	T	0.150	T	0.079	2.381	13.92	4.0	1.189	5.474	13.520	0.181	.	0.0083	0.00159744	0.0063	0.0029	0.0031	0	0.0029	0.0099	0.0056	0.0005	0.0063324	979	154602	rs146591126	0.0098	0.0099	0.0101	0.0096	0.0119	0.0097	0.0096	0.0117	0.0117	0.0015	0.0031	0.0022	0	0.0035	0.0007	0.0119	0.0096	0.0007	0.0064	0.0064	0.0073	0.0055	0.0113	0.0061	0.0059	0.0106	0.0103	0.0026	0	0.0031	0.0026	0	0.0029	0	0.0113	0.0052	0.0008	0.169	0.22920	T	0.017	0.60337	D	0.001	0.07471	B	0.004	0.10090	B	0.000163	0.48594	N	0.211588	0.565398	0.81001	D	2.395	0.69210	M	0.03	0.62183	T	-3.07	0.63207	D	0.18	0.19459	-0.8854	0.49324	T	0.150	0.47787	T	10	0.0058999956	0.00132	T	.	.	.	0.181	0.45247	.	.	0.417430616677	0.41357	0.354334555659533	0.35347	.	.	0.459893524647	0.33296	T	0.204898	0.56379	T	-0.480932	0.00730	T	-0.453214	0.27341	T	0.0296688838718382	0.01939	T	0.765223	0.39255	T	0.16842943	0.37300	0.15065254	0.35520	0.16842943	0.37300	0.15065254	0.35520	-3.915	0.22527	T	0.5306565262063543	0.60156	0.105	0.19114	B	.	.	1.861327	0.23646	16.10	0.99415267122541873	0.63501	0.96666	0.70295	D	AEFBI	0.634336	0.61425	D	-0.0925283932002588	0.37718	2.198576	0.0407524702412566	0.41628	2.504072	0.902968036728839	0.26140	0.638212	0.43195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.91	4.0	0.45673	5.560000	0.67036	3.959000	0.40733	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.824000	0.38829	0.0763:0.0:0.9237:0.0	13.520	0.61019	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	699.98	35	chr1	235766255	.	G	A	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.709;DP=738;ExcessHet=0.0000;FS=4.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=1.66;SOR=1.445	GT:AD:DP:GQ:PL	0/1:24,26:50:99:714,0,585	20	0	1	0
chr1	240207756	240207821	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2944_3009del:p.A1083_G1104del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	612	898	2	0	10	12	0.00111235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0155	0.0051	0.0004	0.0179	0.0181	0.0172	0.0336	0.0004995	13	26028	.	0.0033	0.0039	0.0033	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0025	0.0018	0.0026	0.0002	0.0037	0.0041	0.0034	0.0034	0.0057	0.0009	0.0052	0.0008	0.0010	0.0020	0.0007	0.0006	0.0007	0.0006	0.0011	0.0025	0.0007	0.0006	0	0.0003	0	0.0009	0.0012	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	320.94	87	chr1	240207755	.	ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	A	320.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.100e-01;DP=1357;ExcessHet=0.0000;FS=1.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.29;MQRankSum=1.83;QD=9.17;ReadPosRankSum=-2.660e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:24,11:35:99:335,0,921	20	0	1	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5665.43	76	chr1	240207775	.	C	T,*	5665.43	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=0.155;DP=1288;ExcessHet=0.1504;FS=0.973;InbreedingCoeff=0.0933;MLEAC=6,1;MLEAF=0.214,0.036;MQ=55.45;MQRankSum=2.61;QD=21.46;ReadPosRankSum=0.00;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	9	1	3	7
chr1	240207779	240207779	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	61.07	80	chr1	240207779	.	T	G,*	61.07	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.411e+00;DP=1253;ExcessHet=0.1072;FS=4.046;InbreedingCoeff=-0.0501;MLEAC=1,1;MLEAF=0.024,0.024;MQ=55.78;MQRankSum=-7.110e-01;QD=0.97;ReadPosRankSum=-8.400e-01;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	19	0	1	0
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6200.34	61	chr1	240207785	.	A	T,*	6200.34	.	AC=6,1;AF=0.214,0.036;AN=28;BaseQRankSum=0.505;DP=1124;ExcessHet=0.3860;FS=0.432;InbreedingCoeff=0.0463;MLEAC=8,1;MLEAF=0.286,0.036;MQ=54.15;MQRankSum=1.73;QD=18.13;ReadPosRankSum=0.388;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	8	1	4	7
chr1	240207788	240207788	-	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2976_2977insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.297e-05	0	0	0	0	5.93e-05	0	0	3.84e-05	1	26028	rs746761716	0.0040	0.0069	0.0039	0.0042	0.0132	0.0039	0.0039	0.0119	0.0113	0.0055	0.0029	0.0121	0.0132	0.0047	0.0110	0.0032	0.0061	0.0071	2.121e-05	0.0005	0	4.471e-05	4.004e-05	0	0	.	.	0	0	0	0	0	0	0	4.004e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2680.23	68	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA,*	2680.23	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-1.476e+00;DP=1101;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5325;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.12;MQRankSum=3.04;QD=16.54;ReadPosRankSum=0.213;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	18	1	0	1
chr1	240207788	240207788	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2680.23	68	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA,*	2680.23	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-1.476e+00;DP=1101;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5325;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.12;MQRankSum=3.04;QD=16.54;ReadPosRankSum=0.213;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	18	1	0	1
chr1	240207797	240207797	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	935	562	18	1	6	26	0.0174825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	373.12	58	chr1	240207797	.	G	A,*	373.12	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=2.67;DP=943;ExcessHet=0.1259;FS=0.000;InbreedingCoeff=0.1393;MLEAC=1,1;MLEAF=0.036,0.036;MQ=53.04;MQRankSum=1.59;QD=4.10;ReadPosRankSum=-2.966e+00;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	12	0	1	7
chr1	240207800	240207800	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	888	615	12	1	6	20	0.011254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	324.09	54	chr1	240207800	.	C	A,*	324.09	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=1.77;DP=934;ExcessHet=0.1259;FS=0.958;InbreedingCoeff=0.1417;MLEAC=1,1;MLEAF=0.036,0.036;MQ=53.53;MQRankSum=1.59;QD=3.77;ReadPosRankSum=-2.572e+00;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	12	0	1	7
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	4	1	8	7
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	5214.49	31	chr1	240207812	.	G	T,A,*	5214.49	.	AC=11,3,1;AF=0.306,0.083,0.028;AN=36;BaseQRankSum=0.227;DP=776;ExcessHet=1.2994;FS=0.000;InbreedingCoeff=0.0004;MLEAC=12,3,1;MLEAF=0.333,0.083,0.028;MQ=50.73;MQRankSum=1.59;QD=13.61;ReadPosRankSum=-1.507e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:24,0,0,11:35:99:.:.:335,407,1377,407,1377,1377,0,970,970,921	6	1	7	3
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	2505.01	36	chr1	240207818	.	A	T,*	2505.01	.	AC=6,1;AF=0.200,0.033;AN=30;BaseQRankSum=1.26;DP=723;ExcessHet=0.3441;FS=4.214;InbreedingCoeff=0.0526;MLEAC=6,1;MLEAF=0.200,0.033;MQ=49.66;MQRankSum=1.36;QD=13.05;ReadPosRankSum=0.284;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	9	1	4	6
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1923.71	37	chr1	240207821	.	T	A,*	1923.71	.	AC=3,1;AF=0.094,0.031;AN=32;BaseQRankSum=-2.530e-01;DP=762;ExcessHet=0.7564;FS=4.519;InbreedingCoeff=-0.1829;MLEAC=4,1;MLEAF=0.125,0.031;MQ=50.40;MQRankSum=2.47;QD=11.38;ReadPosRankSum=-2.080e-01;SOR=1.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:24,0,11:35:99:.:.:335,407,1377,0,970,921	12	0	3	5
chr1	247966002	247966002	T	C	exonic	OR2AK2	.	nonsynonymous SNV	OR2AK2:NM_001004491:exon1:c.T671C:p.L224P,	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	.	.	1.000	N	1.595	L	0.89	T	-0.993	T	0.171	T	0.268	1.478	10.89	1.33	0.372	-0.642	5.721	0.066	0.00629404517263	0.0010	0.00159744	0.0023	0.0006	0.0017	0	0.0003	0.0027	0.0046	0.0042	0.0021733	336	154602	rs143777155	0.0027	0.0027	0.0027	0.0028	0.0123	0.0027	0.0026	0.0100	0.0092	0.0004	0.0012	0.0053	0.0001	0.0002	0.0123	0.0028	0.0038	0.0046	0.0017	0.0017	0.0018	0.0016	0.0043	0.0015	0.0015	0.0029	0.0024	0.0007	0	0.0011	0.0055	0	0.0005	0.0170	0.0023	0.0043	0.0043	.	.	.	.	.	.	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.08975	N	1.29	0.32370	L	.	.	.	.	.	.	.	.	-0.9933	0.31749	T	0.171	0.51245	T	9	0.018920064	0.00416	T	0.006294	0.16522	T	0.066	0.19193	.	.	0.548865971634	0.54542	0.5532750783688914	0.55253	0.279006609855	0.30376	0.22066795826	0.01349	T	0.015167	0.12771	T	-0.546682	0.00305	T	-0.557644	0.16599	T	0.0761684574638909	0.09491	T	0.546745	0.18722	T	0.6006469	0.72726	0.48425713	0.70144	0.6006469	0.72727	0.48425713	0.70145	-5.041	0.37282	T	.	.	0.166	0.36594	B	.;.	.;.	2.478522	0.31957	18.90	0.98584754275036668	0.43284	0.01664	0.05329	N	AEFBI	0.055755	0.10250	N	-0.342586406668038	0.27546	1.512148	-0.611833345202242	0.19189	1.028438	0.00198231628040838	0.09061	0.487112	0.14033	0	0.232529	0.04832	2	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	1.33	0.20958	-0.336000	0.07908	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1483:0.0:0.8517	5.721	0.17255	940	0.13648	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	1	0	0	0	0.04762	6284.08	113	chr1	247966002	.	T	C	6284.08	.	AC=2;AF=0.048;AN=42;DP=1066;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.79;SOR=0.904	GT:AD:DP:GQ:PL	1/1:0,186:186:99:6312,559,0	20	1	0	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	2|2:0,0,100:100:99:1|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:4547,4547,4547,323,323,0:248361635	8	0	1	1
chr2	3388054	3388054	C	T	exonic	TRAPPC12	.	nonsynonymous SNV	TRAPPC12:NM_001321102:exon2:c.C431T:p.A144V	.	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.278	B	0.086	B	0.017	N	1.000	N	0.69	N	0.39	T	-1.068	T	0.095	T	0.045	-0.105	3.487	-1.26	-0.331	0.239	4.708	0.027	0.0406938607016	.	0.000199681	0.0009	0	0	0	0	0	0	0.0013	6.47e-05	10	154602	rs547808412	3.837e-05	3.968e-05	1.891e-05	5.84e-05	0.0006	2.98e-05	2.698e-05	0.0005	0.0004	0	0	0	0	0	0	0	7.096e-05	0.0006	3.943e-05	3.937e-05	5.143e-05	2.688e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.295	0.14743	T	0.305	0.20037	T	0.001	0.07471	B	0.0	0.01387	B	0.017354	0.01463	N	2.530880	1	0.08975	N	0.895	0.22405	L	0.39	0.57419	T	-0.02	0.07299	N	0.098	0.07949	-1.0680	0.09858	T	0.095	0.35871	T	10	0.00884977	0.00200	T	0.040694	0.59520	D	0.027	0.05988	0.21	0.12781	0.104622674875	0.10061	0.06041244027881057	0.05981	0.245710452675	0.27094	0.495861381292	0.38251	T	0.005106	0.04538	T	-0.55635	0.00267	T	-0.654967	0.08610	T	0.0395513586824285	0.03610	T	0.425557	0.11413	T	0.024136547	0.01217	0.029077912	0.01206	0.024136547	0.01216	0.029077912	0.01206	-5.304	0.39983	T	.	.	0.086	0.11124	B	.;.	.;.	0.549425	0.09179	5.963	0.95810344793455882	0.27883	0.13518	0.17901	N	AEFDBCI	0.066646	0.13062	N	-1.22799761014159	0.04598	0.2078482	-1.29101357051953	0.04551	0.2149333	0.407253231076922	0.20182	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.99	-1.26	0.08892	-0.320000	0.08070	1.325000	0.25629	0.499000	0.22661	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.3508:0.3425:0.3067:0.0	4.708	0.12242	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	1	0	0	0	0.04762	1475.11	37	chr2	3388054	.	C	T	1475.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=800;ExcessHet=0.1072;FS=6.457;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=18.21;ReadPosRankSum=0.211;SOR=0.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,22:37:99:0|1:3388054_C_T:598,0,526:3388054	19	0	2	0
chr2	21029921	21029921	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon11:c.G1447A:p.D483N,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.982	D	0.864	P	0.038	N	1.000	D	2.125	M	1.03	T	-0.600	T	0.245	T	0.071	5.497	35	5.25	2.625	6.880	19.227	0.255	0.0629676229478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.038455	0.24284	N	0.388875	0.999994	0.58761	D	.	.	.	1.03	0.40469	T	-2.32	0.65858	N	0.28	0.34874	-0.5995	0.64838	T	0.245	0.61342	T	10	0.39019972	0.54835	T	0.062968	0.68822	D	0.255	0.56562	0.481	0.56142	0.742757694822	0.74044	0.19589680735917472	0.19506	0.239657820895	0.26511	0.364478468895	0.20036	T	0.030043	0.21388	T	-0.190369	0.22204	T	-0.511229	0.21188	T	0.990632653236389	0.80861	D	0.882712	0.60367	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.17657	B	.;.	.;.	4.259562	0.64723	24.7	0.99917958489079794	0.98518	0.99043	0.90392	D	AEFBHCI	0.927466	0.91017	D	0.755075219499161	0.83237	7.964561	0.737518103788646	0.85221	8.516555	0.99999999999997	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	6.780000	0.74837	4.925000	0.46078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	19.227	0.93806	869	0.31655	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, 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	1	0	0	0	0	0	0	0.02381	1387.98	38	chr2	21029921	.	C	T	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=879;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-2.320e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1402,0,1669	20	0	1	0
chr2	23757445	23757445	C	T	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon25:c.G4036A:p.V1346I	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.004	B	0.006	B	0.110	N	1.000	N	0	N	-2.82	D	-0.608	T	0.343	T	0.073	0.433	6.352	4.37	2.618	0.547	8.687	0.250	.	0.0068	0.00359425	0.0051	0.0025	0.0031	0	0.0015	0.0071	0.0064	0.0030	0.0048124	744	154602	rs115642848	0.0072	0.0069	0.0073	0.0071	0.0084	0.0071	0.0071	0.0083	0.0082	0.0009	0.0038	0.0015	0	0.0012	0.0021	0.0084	0.0065	0.0032	0.0049	0.0049	0.0054	0.0044	0.0080	0.0046	0.0045	0.0074	0.0072	0.0019	0.0121	0.0059	0.0020	0	0.0005	0	0.0080	0.0033	0.0012	0.228	0.18434	T	0.496	0.11335	T	.	.	.	.	.	.	0.110496	0.02635	N	2.046150	1	0.08975	N	.	.	.	-2.82	0.91192	D	-0.32	0.12283	N	0.043	0.01577	-0.6081	0.64483	T	0.343	0.70843	T	10	0.0034483075	0.00061	T	.	.	.	0.250	0.55888	.	.	0.318725805183	0.31479	0.1377668747295541	0.13700	0.393016670011	0.40480	0.337053000927	0.15996	T	.	.	.	-0.446068	0.01191	T	-0.404127	0.32905	T	0.0066725747609963	0.00075	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04041	B	.	.	1.421653	0.18386	13.71	0.70920187119254596	0.09455	0.06660	0.12678	N	AEFBI	0.045237	0.07376	N	-0.506495873182796	0.21870	1.163765	-0.354123607718254	0.26382	1.456837	0.999970182163048	0.50053	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.654926	0.60358	0	.	.	5.26	4.37	0.51830	0.568000	0.23326	0.591000	0.19822	0.599000	0.40250	0.031000	0.20493	0.000000	0.08366	0.980000	0.58198	0.0:0.8074:0.0:0.1926	8.687	0.33407	889	0.27310	.	.	.	.	.	.	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	1143.98	34	chr2	23757445	.	C	T	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.620e+00;DP=778;ExcessHet=0.0000;FS=4.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.339e+00;SOR=0.361	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1158,0,829	20	0	1	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	0/1:30,8:38:6:.:.:6,0,448	7	0	13	1
chr2	24758086	24758086	A	G	exonic	NCOA1	.	nonsynonymous SNV	NCOA1:NM_147233:exon19:c.A3995G:p.N1332S	.	.	421	1045	52	4	0	60	0.027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.99	D	0.763	P	0.000	D	0.986	D	1.5	L	4.44	T	-1.035	T	0.018	T	0.156	3.771	19.15	3.82	0.897	4.694	10.626	0.128	.	0.0007	0.00579073	0.0042	0.0003	0.0008	0	0	0.0015	0.0033	0.0237	0.0037839	585	154602	rs150066931	0.0023	0.0023	0.0015	0.0032	0.0251	0.0023	0.0022	0.0242	0.0239	0.0001	0.0009	0.0097	0	9.36e-05	0.0191	0.0006	0.0030	0.0251	0.0018	0.0018	0.0013	0.0023	0.0226	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0034	0.0087	0.0002	0	0.0340	0.0008	0.0043	0.0226	0.038	0.49613	D	0.332	0.19246	T	0.586	0.63424	P	0.28	0.56556	B	0.000052	0.53742	D	0.165920	0.986487	0.40439	D	1.265	0.31966	L	4.44	0.02387	T	-1.95	0.45222	N	0.558	0.58287	-1.0348	0.18920	T	0.018	0.07234	T	10	0.007268876	0.00165	T	.	.	.	0.128	0.35103	.	.	0.465451373931	0.46169	0.09971257647709561	0.09902	0.682184877528	0.60094	0.605033278465	0.53615	T	0.180548	0.53192	T	-0.545155	0.00312	T	-0.5376	0.18533	T	0.0387270623869613	0.03461	T	0.830117	0.49576	T	0.10007006	0.23624	0.11117565	0.26814	0.10007006	0.23624	0.11117565	0.26814	-4.195	0.29693	T	.	.	0.103	0.36554	B	.;.;.;.;.;.	.;.;.;.;.;.	2.309185	0.29559	18.16	0.998768665370665	0.95410	0.92824	0.56635	D	AEFGBI	0.542611	0.55828	D	0.32565091433849	0.57468	3.914282	0.335407971965068	0.57633	3.929775	0.977072808704369	0.29785	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.01	3.82	0.43153	3.684000	0.54403	3.587000	0.39177	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9228:0.0:0.0771:0.0	10.626	0.44696	425	0.81160	.;.;.;.;.;.	.	.	.	.	.	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	1740.11	39	chr2	24758086	.	A	G	1740.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.52;DP=798;ExcessHet=0.1072;FS=1.296;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.361;SOR=0.811	GT:AD:DP:GQ:PL	0/1:48,33:81:99:896,0,1223	19	0	2	0
chr2	27522550	27522550	G	A	exonic	GCKR	.	nonsynonymous SNV	GCKR:NM_001486:exon18:c.G1663A:p.A555T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.013	B	0.027	N	0.707	D	0.755	N	2.21	T	-1.018	T	0.033	T	0.222	0.772	8.079	3.01	0.927	0.344	8.824	0.030	0.00239308382869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.04588	T	0.797	0.04104	T	.	.	.	.	.	.	0.027387	0.25764	N	0.358408	0.70662	0.33475	D	.	.	.	2.21	0.18414	T	-0.74	0.20791	N	0.175	0.18784	-1.0182	0.24301	T	0.033	0.14029	T	10	0.10603249	0.19627	T	0.002393	0.04673	T	0.030	0.07022	0.599	0.72984	0.260735089382	0.25697	0.20211057352970865	0.20128	0.0566683192148	0.06263	0.404895544052	0.25749	T	0.236296	0.60375	T	-0.271781	0.11560	T	-0.628171	0.10555	T	0.117052689194679	0.14138	T	0.692631	0.30204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06250	B	.	.	1.663924	0.21216	15.10	0.88577561856456721	0.18087	0.15489	0.18937	N	AEFDGBHCI	0.293024	0.40375	N	-0.764328850180801	0.14246	0.7081355	-0.665650180619877	0.17822	0.9493672	0.999914621340413	0.45857	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.638833	0.57524	0	.	.	3.91	3.01	0.33872	0.358000	0.19952	3.196000	0.36727	0.676000	0.76740	0.084000	0.22438	0.996000	0.32793	0.994000	0.71098	0.0:0.0:0.7752:0.2248	8.824	0.34202	73	0.96914	.	.	.	.	.	.	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	2212.98	34	chr2	27522550	.	G	A	2212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.060e-01;DP=942;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=1.27;SOR=0.661	GT:AD:DP:GQ:PL	0/1:94,90:184:99:2227,0,2267	20	0	1	0
chr2	31138082	31138082	C	T	exonic	GALNT14	.	nonsynonymous SNV	GALNT14:NM_001253826:exon1:c.G5A:p.R2Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.077	B	0.007	B	.	.	1.000	D	2.05	M	0.45	T	-0.843	T	0.194	T	0.373	4.177	21.6	2.45	0.359	2.380	7.030	0.142	0.450402964365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002582670	6.843e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.018	0.65728	D	0.077	0.24313	B	0.006	0.12133	B	.	.	.	.	0.958792	0.26211	N	1.965	0.53209	M	0.01	0.64445	T	-1.24	0.35597	N	0.41	0.45047	-0.8432	0.52433	T	0.194	0.54696	T	9	0.37444198	0.53724	T	0.450403	0.94331	D	0.142	0.37995	0.406	0.43902	0.675487593128	0.67273	0.7432184747350956	0.74267	0.770644162254	0.64742	0.788628458977	0.80233	T	0.011863	0.10523	T	-0.0873781	0.38507	T	-0.266435	0.48179	T	0.608716524196086	0.36749	D	0.823718	0.48487	T	0.2085394	0.43094	0.13599582	0.32546	0.2085394	0.43094	0.13599582	0.32546	-6.127	0.49922	T	.	.	0.158	0.36947	B	.;.;.	.;.;.	4.277410	0.65129	24.8	0.99896831703166533	0.96971	0.88673	0.48712	D	ALL	0.287074	0.39931	N	-0.237653261163741	0.31600	1.773472	-0.159058584959994	0.33061	1.887275	0.999999999999894	0.74766	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.29	2.45	0.28953	2.514000	0.45164	5.756000	0.49655	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.7286:0.1741:0.0973	7.030	0.24139	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	1	0	0	0	0	0	0	0.02381	1715.98	36	chr2	31138082	.	C	T	1715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.235;DP=883;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=1.90;SOR=0.781	GT:AD:DP:GQ:PL	0/1:70,78:148:99:1730,0,1447	20	0	1	0
chr2	36597928	36597928	G	C	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon1:c.C215G:p.P72R	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.793	P	0.52	P	0.035	N	1.000	D	1.245	L	0.96	T	-1.066	T	0.103	T	0.36	2.936	15.79	2.93	0.834	1.666	9.070	0.059	.	.	0.00219649	0.0303	0.0114	0	0	0	0	0	0.0492	0.0004981	77	154602	rs564557666	0.0006	0.0007	0.0004	0.0009	0.0105	0.0006	0.0006	0.0098	0.0096	0	0	0	0	0	0	7.352e-05	0.0008	0.0105	0.0004	0.0004	0.0002	0.0005	0.0097	0.0003	0.0003	0.0075	0.0067	2.405e-05	0	0	0	0	0	0	7.354e-05	0.0005	0.0097	0.044	0.41096	D	0.297	0.20551	T	0.785	0.44725	P	0.43	0.48197	B	0.035246	0.24668	N	0.303483	0.763364	0.34065	D	1.1	0.28011	L	0.96	0.42888	T	-0.24	0.10833	N	0.262	0.29659	-1.0663	0.10246	T	0.103	0.38044	T	10	0.006874621	0.00156	T	.	.	.	0.059	0.16972	0.525	0.62967	0.550632123912	0.54720	0.2670145881801063	0.26614	0.00969592978935	0.00885	0.863068342209	0.91563	D	0.024	0.18273	T	-0.445337	0.01203	T	-0.404511	0.32860	T	0.112339558159884	0.13665	T	0.809319	0.46506	T	0.1225515	0.28796	0.19009145	0.42392	0.1225515	0.28796	0.19009145	0.42391	-3.593	0.17756	T	.	.	0.08	0.10835	B	.;.	.;.	3.130330	0.42292	21.5	0.99304559399765313	0.58759	0.58192	0.30576	D	ALL	0.221499	0.34612	N	-0.0195770076833504	0.40969	2.442357	-0.0157476527369321	0.39002	2.306103	0.999999999999982	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.8	2.93	0.33092	2.640000	0.46245	11.413000	0.92696	0.541000	0.25215	0.996000	0.39380	1.000000	0.68203	0.871000	0.41478	0.1106:0.0:0.8894:0.0	9.070	0.35645	857	0.34089	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	78.98	30	chr2	36597928	.	G	C	78.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.902;DP=624;ExcessHet=0.0000;FS=2.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.27;ReadPosRankSum=-7.830e-01;SOR=1.781	GT:AD:DP:GQ:PL	0/1:11,4:15:93:93,0,294	20	0	1	0
chr2	37064822	37064822	A	G	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon10:c.T1502C:p.V501A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.982	D	0.918	D	0.000	D	1.000	D	1.59	L	-0.16	T	-0.466	T	0.344	T	0.87	4.659	25.6	5.47	2.092	9.192	15.562	0.650	0.0377181352404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423242233	1.368e-06	1.368e-06	2.723e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.982	0.60036	D	0.918	0.65394	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	-0.16	0.65378	T	-3.87	0.72594	D	0.841	0.83678	-0.4663	0.69855	T	0.344	0.70972	T	10	0.81598645	0.80837	D	0.037718	0.57787	D	0.650	0.86786	0.473	0.54859	0.700102871335	0.69750	0.4931977975268489	0.49240	1.36241963825	0.84364	0.788456082344	0.80208	T	0.226551	0.59160	T	0.311109	0.83827	D	0.20911	0.83616	D	0.986833035945892	0.77457	D	0.908009	0.67517	D	0.6239686	0.73976	0.67791003	0.81081	0.6239686	0.73977	0.67791003	0.81082	-12.127	0.85464	D	.	.	0.807	0.77636	P	.	.	4.558837	0.71814	25.7	0.99879045683544798	0.95572	0.99113	0.91417	D	AEFGBI	0.853780	0.77076	D	0.683121288140585	0.78527	6.889575	0.698978534017266	0.82301	7.733224	0.999999994586532	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.47	5.47	0.80345	9.179000	0.93989	11.200000	0.88996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	15.562	0.75993	561	0.71236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1029.98	33	chr2	37064822	.	A	G	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.034;DP=773;ExcessHet=0.0000;FS=2.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.620e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1044,0,1119	20	0	1	0
chr2	37168035	37168035	C	G	exonic	SULT6B1	.	nonsynonymous SNV	SULT6B1:NM_001367551:exon7:c.G812C:p.S271T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.024	B	0.071	N	1.000	N	-0.105	N	2.82	T	-0.931	T	0.010	T	0.13	-0.801	0.673	0.643	-0.073	-0.226	5.305	0.077	0.0023003772808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.05293	T	0.86	0.03921	T	0.002	0.09854	B	0.024	0.20255	B	0.071487	0.21470	N	0.511218	0.999969	0.19072	N	0.455	0.12820	N	2.82	0.10871	T	0.14	0.05405	N	0.107	0.15187	-0.9309	0.44006	T	0.010	0.03627	T	10	0.096271664	0.17256	T	0.002	0.04424	T	0.077	0.22490	0.667	0.80502	0.0138822411134	0.00435	0.358120736332806	0.35726	.	.	0.30322226882	0.10883	T	0.051712	0.28958	T	-0.336238	0.05653	T	-0.720759	0.04759	T	0.0608248151838779	0.07298	T	0.615039	0.23503	T	0.0757439	0.17083	0.050856803	0.08067	0.0757439	0.17083	0.050856803	0.08066	-3.28	0.13480	T	.	.	0.077	0.09965	B	.;.	.;.	-0.022392	0.04130	0.982	0.27456404978906401	0.01364	0.39073	0.26131	N	AEFDBHCI	0.057255	0.10651	N	-0.885008602377166	0.11199	0.539131	-0.749685000699447	0.15730	0.8287436	0.997606239698578	0.35808	0.568482	0.32641	0	0.547309	0.14657	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.54	0.643	0.16942	-0.282000	0.08478	-2.998000	0.03154	0.599000	0.40250	0.817000	0.29947	0.000000	0.08366	0.367000	0.26044	0.0:0.3057:0.4149:0.2793	5.305	0.15110	557	0.71576	Sulfotransferase domain;Sulfotransferase 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	412.98	33	chr2	37168035	.	C	G	412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.996;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-7.490e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/1:23,18:41:99:427,0,530	20	0	1	0
chr2	38074704	38074704	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon2:c.G685A:p.E229K,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	.	0	1411	106	5	0	116	0.0394826	.	.	79359	Congenital_glaucoma|Congenital_ocular_coloboma|not_specified|not_provided|Glaucoma_3A|Irido-corneo-trabecular_dysgenesis	MONDO:MONDO:0020366,MedGen:C0020302|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|other	.	.	.	.	.	.	.	.	0	D	0.781	P	0.139	B	0.000	D	1.000	D	1.25	L	-0.32	T	-0.829	T	0.124	T	0.789	4.035	20.7	3.77	1.186	3.709	10.465	0.395	.	0.0037	0.0103834	0.0142	0.0017	0.0025	0	0.0040	0.0098	0.0214	0.0562	0.0107955	1669	154602	rs57865060	0.0085	0.0085	0.0070	0.0101	0.0518	0.0084	0.0083	0.0506	0.0501	0.0010	0.0021	0.0101	5.041e-05	0.0026	0.0206	0.0061	0.0088	0.0518	0.0062	0.0062	0.0055	0.0069	0.0503	0.0059	0.0057	0.0451	0.0431	0.0008	0	0.0034	0.0118	0.0004	0.0023	0.0102	0.0078	0.0076	0.0503	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000014	0.62929	D	0.111194	0.999619	0.47849	D	1.57	0.39626	L	.	.	.	.	.	.	0.697	0.70351	-0.8290	0.53365	T	0.124	0.42841	T	10	0.004917532	0.00105	T	.	.	.	.	.	.	.	.	.	0.5846823461645314	0.58398	.	.	0.597627282143	0.52569	T	0.457736	0.79599	T	-0.163042	0.26294	T	0.029531	0.72247	D	0.026333973035908	0.01451	T	0.933007	0.74900	D	0.62011653	0.73769	0.7128727	0.83058	0.72305995	0.79334	0.68006516	0.81203	-9.726	0.72255	D	.	.	0.244	0.53261	B	.;.	.;.	3.594627	0.50741	23.0	0.99863475441628191	0.94184	0.79813	0.39624	D	AEFDGBHCI	0.475083	0.51907	N	0.142951330129671	0.48478	3.059665	0.201290397305074	0.49920	3.189551	0.999999999999926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.65	3.77	0.42499	2.673000	0.46524	3.320000	0.37537	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.9053:0.0:0.0947	10.465	0.43786	922	0.19044	.;.	EIF2AK2	Cells_Cultured_fibroblasts	.	.	rs57865060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3840.11	33	chr2	38074704	.	C	T	3840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.83;DP=1009;ExcessHet=0.1072;FS=0.821;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=0.723;SOR=0.633	GT:AD:DP:GQ:PL	0/1:86,66:152:99:1695,0,2253	19	0	2	0
chr2	38931156	38931156	C	G	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon7:c.C410G:p.A137G	.	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.079	B	0.007	B	0.914	U	1.000	N	0	N	0.86	T	-1.083	T	0.047	T	0.165	1.589	11.27	4.78	2.654	1.358	6.345	0.065	0.00493584759959	0.0044	0.00279553	0.0062	0.0028	0.0024	0	0.0025	0.0051	0.0042	0.0097	0.0018176	281	154602	rs199921991	0.0067	0.0064	0.0064	0.0069	0.0098	0.0066	0.0065	0.0093	0.0090	0.0010	0.0019	0.0017	0	0.0031	0.0060	0.0073	0.0061	0.0098	0.0044	0.0044	0.0044	0.0043	0.0087	0.0041	0.0040	0.0066	0.0063	0.0011	0	0.0032	0.0017	0.0002	0.0031	0.0136	0.0070	0.0047	0.0087	0.035	0.43708	D	0.122	0.35710	T	.	.	.	.	.	.	0.913594	0.07431	U	1.052340	1	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-0.83	0.22727	N	0.095	0.13769	-1.0834	0.06702	T	0.047	0.20116	T	10	0.0042744577	0.00086	T	0.004936	0.12411	T	0.065	0.18881	.	.	0.0884992946249	0.08302	0.29298477614894286	0.29211	.	.	0.408736348152	0.26282	T	.	.	.	-0.550632	0.00289	T	-0.552045	0.17130	T	0.00857455049892436	0.00105	T	0.775222	0.40690	T	.	.	.	.	.	.	.	.	-3.601	0.17871	T	.	.	0.089	0.12276	B	.;.	.;.	1.962825	0.24933	16.58	0.98561748407481908	0.42986	0.08240	0.14194	N	AEFI	0.094228	0.19055	N	-0.624829131922255	0.18200	0.943026	-0.522077609026466	0.21554	1.166563	0.594906135044483	0.21677	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.66	4.78	0.60666	1.387000	0.34037	3.918000	0.40452	0.594000	0.32500	0.012000	0.18695	0.835000	0.27248	0.942000	0.48361	0.0:0.8082:0.0:0.1918	6.345	0.20548	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	934.98	33	chr2	38931156	.	C	G	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=779;ExcessHet=0.0000;FS=1.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-1.618e+00;SOR=0.895	GT:AD:DP:GQ:PL	0/1:48,39:87:99:949,0,1177	20	0	1	0
chr2	42767595	42767595	G	A	exonic	HAAO	.	nonsynonymous SNV	HAAO:NM_012205:exon9:c.C782T:p.S261L,	.	.	409	1107	6	0	0	6	0.0027027	0.0014	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.0	B	0.199	N	1.000	N	0.06	N	1.62	T	-1.047	T	0.036	T	0.095	2.242	13.45	-0.075	0.062	0.108	2.655	0.030	.	.	0.000599042	0.0015	0	0.0006	0.0005	0	0.0008	0.0035	0.0043	0.0005563	86	154602	rs534302281	0.0005	0.0005	0.0004	0.0007	0.0035	0.0005	0.0005	0.0032	0.0030	0.0001	0.0004	0.0006	0.0002	1.961e-05	0.0030	0.0003	0.0008	0.0035	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0008	0.0006	2.405e-05	0	0.0003	0	0.0004	0	0.0034	0.0004	0	0.0017	0.324	0.13392	T	0.304	0.20100	T	0.001	0.07471	B	0.0	0.01387	B	0.199162	0.03307	N	1.574650	0.999997	0.08975	N	0.93	0.23535	L	1.62	0.28189	T	-1.13	0.29114	N	0.145	0.14622	-1.0467	0.15332	T	0.036	0.15640	T	9	0.0066372156	0.00150	T	.	.	.	0.030	0.07022	.	.	0.406394481233	0.40250	0.2559838105515484	0.25512	0.0531030045541	0.05856	0.4195548594	0.27775	T	0.003949	0.03363	T	-0.608041	0.00130	T	-0.649236	0.09007	T	0.0083693863811171	0.00101	T	0.492651	0.15191	T	0.12217173	0.28715	0.08638086	0.20010	0.13329817	0.31009	0.098226376	0.23410	-4.779	0.34345	T	.	.	0.081	0.08224	B	.	.	1.678634	0.21398	15.18	0.95378440945246834	0.26800	0.05083	0.10879	N	AEFDBCI	0.245470	0.36640	N	-0.908894475437126	0.10633	0.5090536	-0.88252366091611	0.12508	0.6438087	0.950587112832461	0.27903	0.67177	0.52595	0	0.702456	0.74545	0	0.644132	0.48003	0	0.567892	0.33627	0	.	.	4.71	-0.0748	0.13062	0.221000	0.17463	0.290000	0.16862	0.674000	0.70861	0.124000	0.23245	0.004000	0.18990	0.928000	0.46473	0.4058:0.0:0.3555:0.2388	2.655	0.04704	788	0.46569	.	.	.	.	.	.	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	1317.98	35	chr2	42767595	.	G	A	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.781;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-1.878e+00;SOR=0.687	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1332,0,1142	20	0	1	0
chr2	43824966	43824966	G	A	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon7:c.C827T:p.T276M,	Sitosterolemia, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	884927	Sitosterolemia|Sitosterolemia_1|Cardiovascular_phenotype	MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.642	P	0.058	N	1.000	N	2	M	1.28	T	-0.982	T	0.100	T	0.344	1.498	10.96	2.92	0.336	2.477	2.064	0.142	0.0280417941185	7.7e-05	.	2.499e-05	0	0	0	0	4.546e-05	0	0	1.94e-05	3	154602	rs368800131	8.894e-06	8.893e-06	1.089e-05	6.876e-06	3.479e-05	4.96e-06	3.82e-06	9.24e-06	4.56e-06	2.987e-05	2.236e-05	0	0	0	0	5.396e-06	3.312e-05	3.479e-05	2.629e-05	2.627e-05	3.855e-05	1.346e-05	0.0002	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.027	0.55341	D	0.999	0.77913	D	0.642	0.52168	P	0.057562	0.22470	N	0.527621	1	0.08975	N	2.8	0.81625	M	1.28	0.35960	T	-2.56	0.55339	D	0.477	0.51226	-0.9820	0.34538	T	0.100	0.37213	T	10	0.32197368	0.49553	T	0.028042	0.50772	D	0.142	0.37995	.	.	0.698486972665	0.69588	0.5562481896253819	0.55551	0.287562580865	0.31159	0.370298981667	0.20875	T	0.579178	0.86192	D	-0.262939	0.12558	T	-0.433942	0.29490	T	0.543064832687378	0.34218	D	0.924308	0.72323	D	0.077636264	0.17633	0.10486733	0.25197	0.077636264	0.17632	0.10486733	0.25196	-7.473	0.57420	T	.	.	0.089	0.11941	B	.;.	.;.	3.233560	0.44108	21.9	0.99608043064560559	0.74634	0.18527	0.20297	N	AEFBI	0.308938	0.41538	N	-0.103644848975604	0.37232	2.163317	-0.268248929149532	0.29151	1.630928	0.0105226773357508	0.12039	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.74	2.92	0.32998	2.068000	0.41097	7.390000	0.58507	0.671000	0.69459	0.076000	0.22236	0.999000	0.35428	0.421000	0.27250	0.1445:0.2333:0.4025:0.2197	2.064	0.03380	677	0.60274	ABC transporter-like;ABC transporter-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	0.02381	669.98	34	chr2	43824966	.	G	A	669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=793;ExcessHet=0.0000;FS=5.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.28;ReadPosRankSum=0.096;SOR=1.070	GT:AD:DP:GQ:PL	0/1:62,30:92:99:684,0,1492	20	0	1	0
chr2	54987672	54987672	T	G	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_007008:exon2:c.A61C:p.I21L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.978	D	0.895	P	0.000	D	0.992	D	0.855	L	1.01	T	-0.929	T	0.139	T	0.454	2.310	13.68	5.36	2.014	3.937	10.551	0.060	0.0140641122591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.50676	T	0.294	0.50809	T	0.978	0.58756	D	0.895	0.63489	P	0.000291	0.46274	D	0.230621	0.945785	0.41614	D	0.4	0.12274	N	1.01	0.41058	T	-1.4	0.40082	N	0.383	0.52563	-0.9293	0.44241	T	0.139	0.45734	T	10	0.33208296	0.50420	T	0.014064	0.33919	T	0.095	0.27398	0.548	0.66296	0.522235938266	0.51867	0.34150204473696816	0.34063	0.093094825275	0.10522	0.554489970207	0.46490	T	0.198095	0.55497	T	-0.0867703	0.38608	T	-0.362416	0.37772	T	0.780472278594971	0.45080	D	0.867113	0.58144	D	0.18845615	0.40345	0.15120059	0.35627	0.18845615	0.40344	0.15120059	0.35627	-7.202	0.55496	T	.	.	0.104	0.59494	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.595543	0.72728	25.9	0.96904143068460358	0.31550	0.96894	0.71520	D	AEFGBI	0.710808	0.66445	D	0.0504443349252256	0.44163	2.695408	0.204278733937054	0.50085	3.20424	0.999999414961575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	3.940000	0.56310	5.142000	0.47715	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0756:0.0:0.9244	10.551	0.44276	623	0.65786	.;.;.;Reticulon|Reticulon;.;.;.;.;Reticulon|Reticulon	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	896.98	42	chr2	54987672	.	T	G	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=830;ExcessHet=0.0000;FS=1.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=-4.700e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/1:26,34:60:99:911,0,684	20	0	1	0
chr2	69804559	69804559	G	A	exonic	ANXA4	.	nonsynonymous SNV	ANXA4:NM_001153:exon4:c.G124A:p.V42I	.	.	424	1094	4	0	0	4	0.00182482	.	.	2207422	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.008	B	0.009	B	0.021	N	1.000	D	0.21	N	4.97	T	-0.745	T	0.003	T	0.101	0.279	5.508	1.79	0.032	-0.071	8.066	0.017	0.0248904354683	0.0003	0.000199681	0.0003	0.0001	0.0005	0	0	0.0003	0	0.0006	0.0002393	37	154602	rs370762736	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	0.0001	0.0003	3.827e-05	0	1.873e-05	0.0012	0.0002	0.0002	0.0003	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	7.229e-05	0	0.0001	0	0.0002	0	0	0.0004	0.0019	0.0006	0.775	0.03335	T	1.0	0.01155	T	0.006	0.14655	B	0.008	0.14300	B	0.021177	0.26887	N	0.409334	0.999971	0.53665	D	.	.	.	4.97	0.01356	T	0.29	0.04161	N	0.212	0.23632	-0.7445	0.58221	T	0.003	0.00994	T	9	0.017463297	0.00373	T	0.02489	0.47875	T	0.017	0.02790	.	.	0.180583059064	0.17676	0.286872516273438	0.28600	0.195282886743	0.21866	0.293666362762	0.09459	T	0.006983	0.06403	T	-0.548456	0.00298	T	-0.728036	0.04416	T	0.0108297043521165	0.00154	T	0.70423	0.31438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.11654	B	.;.	.;.	-0.210890	0.03035	0.466	0.81262220953059472	0.13599	0.04181	0.09681	N	AEFDBI	0.272538	0.38815	N	-1.12904980472361	0.06132	0.2814314	-1.0464903494489	0.08780	0.4333894	0.999940111912105	0.47345	0.722319	0.85440	0	0.698795	0.70079	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	5.98	1.79	0.23992	-0.103000	0.10909	1.920000	0.29703	-0.731000	0.03728	0.000000	0.06391	0.979000	0.30280	0.582000	0.30943	0.3689:0.0:0.6311:0.0	8.066	0.29820	584	0.69381	.;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	1	0	0	0	0.02381	2855.98	33	chr2	69804559	.	G	A	2855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.653e+00;DP=917;ExcessHet=0.0000;FS=0.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=0.738;SOR=0.746	GT:AD:DP:GQ:PL	0/1:80,115:195:99:2870,0,1954	20	0	1	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	1/1:2,35,0,0,0,0:37:26:1367,26,0,1374,105,1453,1374,105,1453,1453,1374,105,1453,1453,1453,1374,105,1453,1453,1453,1453	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	1/1:2,35,0,0,0,0:37:26:1367,26,0,1374,105,1453,1374,105,1453,1453,1374,105,1453,1453,1453,1374,105,1453,1453,1453,1453	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	1/1:2,35,0,0,0,0:37:26:1367,26,0,1374,105,1453,1374,105,1453,1453,1374,105,1453,1453,1453,1374,105,1453,1453,1453,1453	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	1/1:2,35,0,0,0,0:37:26:1367,26,0,1374,105,1453,1374,105,1453,1453,1374,105,1453,1453,1453,1374,105,1453,1453,1453,1453	0	4	5	0
chr2	74430513	74430513	G	A	exonic	RTKN	.	nonsynonymous SNV	RTKN:NM_001015055:exon4:c.C379T:p.R127W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.505	M	0.75	T	-0.425	T	0.300	T	0.924	4.547	24.6	4.24	1.314	5.322	12.275	0.536	0.0725469302669	7.7e-05	.	4.942e-05	0	0	0	0	8.99e-05	0	0	5.17e-05	8	154602	rs377701393	2.941e-05	2.941e-05	2.723e-05	3.163e-05	0.0005	2.216e-05	1.97e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	3.058e-05	4.967e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.485	0.72352	M	0.75	0.50192	T	-7.56	0.95276	D	0.905	0.91505	-0.4250	0.71229	T	0.300	0.67092	T	10	0.8930155	0.88648	D	0.072547	0.71561	D	0.536	0.80545	.	.	0.828464411943	0.82683	0.7979849423653289	0.79751	0.901814095045	0.70670	0.82229745388	0.85381	D	0.462778	0.79900	T	0.160714	0.70266	D	0.173374	0.81609	D	0.975916028022766	0.71146	D	0.992576	0.97789	D	0.8576799	0.87910	0.7345662	0.84312	0.8576799	0.87911	0.7345662	0.84314	-10.905	0.79817	D	.	.	0.772	0.82481	P	.;.;.	.;.;.	5.736501	0.93308	33	0.99925158782525503	0.99042	0.98767	0.86589	D	AEFBCI	0.844256	0.76123	D	0.681022994909752	0.78390	6.861759	0.616525439856252	0.76138	6.436353	0.999999974886157	0.74766	0.67177	0.52595	0	0.633656	0.55848	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.14	4.24	0.49486	5.562000	0.67049	7.481000	0.59259	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8141:0.1859	12.275	0.54051	521	0.74284	.;Anillin homology domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1052.98	35	chr2	74430513	.	G	A	1052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.444;DP=792;ExcessHet=0.0000;FS=2.251;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.98;ReadPosRankSum=1.65;SOR=1.125	GT:AD:DP:GQ:PL	0/1:23,39:62:99:1067,0,541	20	0	1	0
chr2	74506202	74506202	C	T	exonic	PCGF1	.	nonsynonymous SNV	PCGF1:NM_032673:exon4:c.G403A:p.V135I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.019	B	0.012	B	0.000	D	0.510	N	0.41	N	1.92	T	-1.067	T	0.042	T	0.239	2.944	15.81	5.45	2.572	2.899	14.796	0.042	0.00541245296801	0.0013	.	0.0015	9.623e-05	0	0	0	0.0026	0.0011	0	0.0013195	204	154602	rs149582140	0.0010	0.0010	0.0010	0.0011	0.0007	0.0010	0.0010	0.0002	0.0002	2.987e-05	2.236e-05	0.0406	0	0	0.0007	0.0002	0.0030	4.637e-05	0.0012	0.0012	0.0011	0.0013	0.0003	0.0011	0.0010	0.0002	0.0002	0	0	6.544e-05	0.0452	0	0	0	0.0003	0.0029	0.0002	0.31	0.14017	T	0.426	0.13872	T	0.019	0.17989	B	0.012	0.16012	B	0.000180	0.48594	D	0.142052	0.510413	0.31652	N	0.46	0.12951	N	1.92	0.23082	T	-0.28	0.11547	N	0.263	0.29774	-1.0665	0.10200	T	0.042	0.18202	T	10	0.004781902	0.00101	T	0.005412	0.13893	T	0.042	0.11227	.	.	0.263709349026	0.25991	0.15445223190322885	0.15366	0.681253805767	0.60037	0.675887107849	0.63679	T	0.035242	0.23640	T	-0.434123	0.01401	T	-0.529299	0.19356	T	0.0178555963558286	0.00513	T	0.792821	0.43457	T	0.09294744	0.21819	0.07163076	0.15362	0.09294744	0.21818	0.07163076	0.15362	-3.773	0.20401	T	.	.	0.085	0.10256	B	.	.	2.775979	0.36451	20.2	0.99605669247990847	0.74516	0.92927	0.56890	D	AEFBCI	0.383098	0.46473	N	-0.101917107319869	0.37309	2.168764	0.119017597869637	0.45521	2.813876	0.999999351335272	0.74766	0.609539	0.35627	0	0.685571	0.66316	0	0.493711	0.08198	1	0.605231	0.38476	0	.	.	5.45	5.45	0.79688	3.020000	0.49326	3.964000	0.40771	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	14.796	0.69501	362	0.84826	.	.	.	.	.	.	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	728.98	34	chr2	74506202	.	C	T	728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.347e+00;DP=795;ExcessHet=0.0000;FS=3.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-1.522e+00;SOR=0.346	GT:AD:DP:GQ:PL	0/1:27,32:59:99:743,0,765	20	0	1	0
chr2	85888869	85888869	G	A	exonic	ST3GAL5	.	nonsynonymous SNV	ST3GAL5:NM_001363847:exon1:c.C37T:p.P13S	Salt and pepper developmental regression syndrome, Autosomal recessive	.	118	1380	22	2	0	26	0.00933238	.	.	190425	GM3_synthase_deficiency|not_provided|not_specified	MONDO:MONDO:0018274,MedGen:C1836824,OMIM:609056,Orphanet:171714,Orphanet:370933|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.22	B	0.112	B	.	.	1.000	N	0.55	N	0.75	T	-0.983	T	0.105	T	0.133	2.135	13.10	1.19	0.313	0.150	4.620	0.033	.	.	0.00359425	0.0179	0	0	0	.	0.0039	0.0323	0.0227	0.0013001	201	154602	rs559756386	0.0059	0.0054	0.0056	0.0063	0.0128	0.0058	0.0058	0.0120	0.0117	0.0005	0.0037	0.0027	4.047e-05	0.0003	0.0090	0.0061	0.0059	0.0128	0.0038	0.0038	0.0041	0.0035	0.0085	0.0035	0.0034	0.0064	0.0057	0.0010	0	0.0049	0.0032	0.0002	0	0.0068	0.0059	0.0019	0.0085	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.75	0.50192	T	-0.86	0.23372	N	0.149	0.15187	-0.9829	0.34328	T	0.105	0.38440	T	9	0.004235208	0.00085	T	.	.	.	0.033	0.08068	.	.	0.0986583533028	0.09354	0.251730667870659	0.25087	0.309480003285	0.33256	0.76358371973	0.76464	T	0.258071	0.62919	T	-0.548623	0.00297	T	-0.549805	0.17346	T	0.0176413779189942	0.00496	T	0.681532	0.29028	T	0.13136855	0.30623	0.14717874	0.34841	0.10799594	0.25535	0.14037877	0.33462	-3.326	0.14074	T	.	.	0.111	0.25721	B	.;.;.	.;.;.	2.901153	0.38450	20.7	0.99381755231615077	0.61935	0.02234	0.06487	N	ALL	0.051170	0.09013	N	-0.9793501486076	0.09045	0.4264989	-1.02068146948412	0.09330	0.4636108	0.999999998092424	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	3.05	1.19	0.20120	0.114000	0.15353	0.528000	0.19223	0.567000	0.28720	0.002000	0.15269	0.805000	0.26985	0.214000	0.22296	0.1294:0.2246:0.646:0.0	4.620	0.11829	451	0.79296	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	89.08	14	chr2	85888869	.	G	A	89.08	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.327e+00;DP=269;ExcessHet=0.0000;FS=2.059;InbreedingCoeff=-0.0313;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.94;ReadPosRankSum=-1.217e+00;SOR=0.283	GT:AD:DP:GQ:PL	0/1:9,6:15:99:103,0,226	20	0	1	0
chr2	86147719	86147719	T	C	exonic	IMMT	.	nonsynonymous SNV	IMMT:NM_001100169:exon13:c.A1513G:p.K505E	.	.	420	1091	11	0	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.608	P	0.444	B	0.000	D	0.996	D	0.88	L	1.51	T	-1.096	T	0.078	T	0.528	3.669	18.65	6.17	2.371	3.004	16.822	0.136	0.0145278051404	0.0007	0.000199681	0.0005	0.0002	0.0006	0	0	0.0008	0	6.071e-05	0.0005239	81	154602	rs200238227	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0007	0.0008	0.0008	0.0001	0.0011	0.0018	0	9.365e-05	0.0014	0.0009	0.0009	0.0001	0.0007	0.0007	0.0006	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0.0023	0	0	0.0034	0.0009	0.0005	0.0002	0.096	0.54683	T	0.105	0.47336	T	0.365	0.39540	B	0.143	0.45865	B	0.000001	0.84330	D	0.088969	0.990173	0.43220	D	.	.	.	1.51	0.30937	T	-1.68	0.40082	N	0.594	0.63713	-1.0963	0.04569	T	0.078	0.31224	T	10	0.042367876	0.02979	T	0.014528	0.34707	T	0.160	0.41473	.	.	0.573883478307	0.57056	0.21215041506035584	0.21131	0.207573174993	0.23217	0.628088474274	0.56873	T	0.01552	0.36425	T	-0.370869	0.03550	T	-0.355945	0.38521	T	0.0227938684810202	0.00999	T	0.978102	0.92255	D	0.37939596	0.59273	0.39636588	0.64280	0.37939596	0.59273	0.39636588	0.64280	-6.264	0.49440	T	.	.	0.216	0.46389	B	.;.;.;.;.	.;.;.;.;.	3.662963	0.52048	23.2	0.99812795028604839	0.89620	0.94492	0.61340	D	AEFDBI	0.221526	0.34614	N	0.0837886367137085	0.45708	2.822786	0.254211860414367	0.52890	3.460809	0.994214960863354	0.33538	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	3.002000	0.49184	7.829000	0.70041	0.665000	0.62972	0.995000	0.38783	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.822	0.85699	567	0.70732	.;.;.;.;.	.	.	.	.	.	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	371.98	35	chr2	86147719	.	T	C	371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.743;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.91;ReadPosRankSum=2.12;SOR=0.836	GT:AD:DP:GQ:PL	0/1:31,16:47:99:386,0,810	20	0	1	0
chr2	86858278	86858278	G	A	exonic	CD8B	.	nonsynonymous SNV	CD8B:NM_001178100:exon2:c.C182T:p.P61L	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.903	P	0.134	B	0.542	N	1.000	N	1.765	L	.	.	-1.067	T	0.033	T	0.185	2.084	12.93	2.68	0.357	-0.150	6.916	0.028	.	0.0065	0.0071885	0.0016	0.0165	0.0010	0	0	0.0001	0	0.0002	0.00163	252	154602	rs140127269	0.0006	0.0006	0.0007	0.0005	0.0175	0.0006	0.0005	0.0164	0.0159	0.0175	0.0012	0	0	0	0.0009	0.0001	0.0012	0.0003	0.0050	0.0050	0.0051	0.0048	0.0171	0.0047	0.0046	0.0161	0.0156	0.0171	0	0.0020	0	0	0	0	0.0001	0.0033	0.0002	0.064	0.41915	T	0.061	0.45530	T	0.903	0.49795	P	0.082	0.29098	B	0.541632	0.11530	N	0.777713	0.999999	0.08975	N	.	.	.	.	.	.	-4.3	0.77391	D	0.184	0.25130	-1.0670	0.10085	T	0.033	0.14290	T	9	0.0069544315	0.00158	T	.	.	.	0.028	0.06331	.	.	0.458283960492	0.45451	0.3651208148001604	0.36426	0.615612516959	0.56040	0.28358489275	0.07997	T	0.32628	0.69692	T	-0.515344	0.00468	T	-0.497437	0.22614	T	0.0260605573597369	0.01415	T	0.827017	0.49049	T	0.075144716	0.16910	0.12580264	0.30307	0.075144716	0.16910	0.12580264	0.30306	-5.815	0.46339	T	.	.	0.115	0.24192	B	.;.;.;.;.;.	.;.;.;.;.;.	0.994086	0.13720	10.26	0.92608092676691922	0.22072	0.02263	0.06543	N	AEFDGI	0.051308	0.09051	N	-0.47766944123405	0.22814	1.220834	-0.581549176805911	0.19974	1.074099	7.06481721513648E-4	0.07666	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.49	2.68	0.30839	-0.086000	0.11198	0.402000	0.18011	0.672000	0.70159	0.000000	0.06391	0.014000	0.20376	0.309000	0.24713	0.2171:0.0:0.7829:0.0	6.916	0.23538	537	0.73184	.;.;.;.;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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2245.98	39	chr2	86858278	.	G	A	2245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.961;DP=885;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.42;MQRankSum=-1.648e+00;QD=13.69;ReadPosRankSum=-1.291e+00;SOR=0.583	GT:AD:DP:GQ:PL	0/1:81,83:164:99:2260,0,2204	20	0	1	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|1:50,8:58:99:0|1:94874084_C_CG:185,0,2075:94874084	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|1:205,38:243:99:0|1:94876587_C_A:979,0,8452:94876587	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|1:236,90:326:99:0|1:94876587_C_A:3069,0,9639:94876587	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|1:248,118:366:99:0|1:94876587_C_A:4127,0,10028:94876587	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|1:271,144:415:99:0|1:94876671_A_G:5218,0,10852:94876671	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|1:270,144:414:99:0|1:94876671_A_G:5221,0,10830:94876671	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	0/1:259,101:360:99:.:.:2048,0,6654	4	0	17	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	0/1:130,55:185:99:.:.:1675,0,3444	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	0/1:172,38:210:99:.:.:644,0,6365	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	0/1:166,107:273:99:2451,0,4454	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	0/1:180,69:249:99:.:.:1691,0,4986	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	0/1:221,24:245:94:94,0,8671	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	0/1:180,60:240:99:.:.:1404,0,5162	0	0	21	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	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	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,14:75:99:.:.:185,0,2495	7	0	14	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|1:86,37:123:99:0|1:95859969_A_AT:1295,0,3479:95859969	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|1:86,37:123:99:0|1:95859969_A_AT:1295,0,3479:95859969	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|1:86,37:123:99:0|1:95859969_A_AT:1295,0,3492:95859969	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	0/1:85,37:122:99:1299,0,2206	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	0/1:86,28:114:99:.:.:500,0,3429	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	0/1:80,34:114:99:.:.:1188,0,2011	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|1:78,30:108:99:0|1:95860020_G_A:1025,0,3180:95860020	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|1:78,30:108:99:0|1:95860020_G_A:1025,0,3180:95860020	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	0/1:57,25:82:99:879,0,1457	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|1:73,33:106:99:0|1:95927222_G_GAT:1166,0,2966:95927222	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|1:81,48:129:99:0|1:95927222_G_GAT:1772,0,3257:95927222	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|1:90,52:142:99:0|1:95927222_G_GAT:1913,0,3623:95927222	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|1:104,87:191:99:0|1:95927222_G_GAT:3340,0,4105:95927222	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|1:120,111:231:99:0|1:95927222_G_GAT:4279,0,4684:95927222	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|1:126,119:245:99:0|1:95927222_G_GAT:4435,0,4797:95927222	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|1:113,50:163:99:0|1:95929092_T_C:1647,0,4590:95929092	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|1:134,60:194:99:0|1:95929092_T_C:2116,0,5446:95929092	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|1:138,73:211:99:0|1:95929092_T_C:2650,0,5575:95929092	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|1:141,80:221:99:0|1:95929092_T_C:2935,0,5680:95929092	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|1:144,86:230:99:0|1:95929092_T_C:3147,0,5767:95929092	1	0	20	0
chr2	96023428	96023428	G	A	exonic	GPAT2	.	nonsynonymous SNV	GPAT2:NM_001321529:exon17:c.C1714T:p.R572W	.	.	419	1077	26	0	0	26	0.0119266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.067	B	0.011	B	0.175	N	1.000	D	1.245	L	-0.13	T	-0.627	T	0.245	T	0.484	1.365	10.49	4.55	1.278	0.572	11.693	0.244	0.236313734747	0.0013	0.00219649	0.0023	0.0002	0.0005	0	0.0003	0.0027	0.0022	0.0053	0.0021151	327	154602	rs200494170	0.0025	0.0025	0.0023	0.0027	0.0068	0.0024	0.0024	0.0058	0.0056	0.0004	0.0004	0.0026	5.038e-05	0.0004	0.0068	0.0025	0.0026	0.0062	0.0019	0.0019	0.0019	0.0018	0.0066	0.0017	0.0016	0.0048	0.0042	0.0004	0	0.0009	0.0029	0	0.0003	0.0068	0.0030	0.0014	0.0066	0.025	0.49117	D	0.012	0.63918	D	0.038	0.23653	B	0.01	0.15521	B	0.175141	0.17260	N	0.598876	1	0.81001	D	2.14	0.59869	M	-1.13	0.77719	T	-2.13	0.48354	N	0.288	0.32591	-0.6271	0.63693	T	0.245	0.61331	T	10	0.0079962015	0.00181	T	0.236314	0.88494	D	0.244	0.55061	.	.	0.684805705286	0.68211	0.24416334672272652	0.24330	1.16178190297	0.79509	0.394804805517	0.24345	T	0.022516	0.17347	T	-0.315594	0.07264	T	-0.223909	0.52359	T	0.0303656412644803	0.02046	T	0.793221	0.43505	T	0.06585315	0.14113	0.09652142	0.22937	0.06585315	0.14112	0.09652142	0.22937	-4.513	0.31058	T	.	.	0.085	0.10400	B	.;.;.	.;.;.	1.234254	0.16293	12.45	0.9948997075661955	0.67403	0.73598	0.36000	D	AEFDGBI	0.398685	0.47427	N	-0.329723344391948	0.28025	1.542328	-0.23194115769066	0.30398	1.711248	0.487886500102385	0.20838	0.533608	0.22052	0	0.615948	0.52940	0	0.514364	0.09456	0	0.638833	0.57524	0	.	.	5.44	4.55	0.55429	0.950000	0.28720	0.803000	0.21677	-0.145000	0.12313	0.174000	0.23986	0.200000	0.23563	0.011000	0.09372	0.0:0.0:0.8237:0.1763	11.693	0.50789	292	0.88363	.;.;.	.	.	.	.	.	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	1733.98	35	chr2	96023428	.	G	A	1733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.702;DP=871;ExcessHet=0.0000;FS=1.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=-9.190e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1748,0,1646	20	0	1	0
chr2	96551460	96551460	G	A	exonic	ARID5A	.	nonsynonymous SNV	ARID5A:NM_001319093:exon6:c.G440A:p.R147Q	.	.	12	1490	19	1	0	21	0.00699767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.112	B	0.01	B	0.525	N	1.000	N	0	N	-0.1	T	-1.045	T	0.100	T	0.105	0.263	5.423	0.287	-0.151	-0.484	6.639	0.046	0.0077247946636	0.0002	0.000998403	0.0021	0.0005	0	0	0	0.0004	0.0023	0.0081	0.0009185	142	154602	rs202219610	0.0007	0.0007	0.0005	0.0009	0.0067	0.0006	0.0006	0.0063	0.0061	6.088e-05	0.0002	0.0026	2.607e-05	0	0.0030	0.0002	0.0008	0.0067	0.0005	0.0005	0.0004	0.0005	0.0060	0.0004	0.0003	0.0043	0.0037	4.813e-05	0	0.0004	0.0026	0.0002	0	0	0.0003	0.0014	0.0060	0.912	0.02407	T	0.681	0.06762	T	0.001	0.07471	B	0.003	0.08700	B	0.524851	0.05223	N	1.299680	1	0.08975	N	0.425	0.12573	N	-0.1	0.64264	T	-0.03	0.07444	N	0.052	0.03175	-1.0449	0.15854	T	0.100	0.37290	T	10	0.0034110546	0.00060	T	0.007725	0.20483	T	0.046	0.12618	.	.	0.386522206555	0.38262	0.08060890171235377	0.07995	0.163533553408	0.18441	0.211388140917	0.00871	T	0.013025	0.11342	T	-0.565486	0.00235	T	-0.581472	0.14415	T	0.000941750006319852	0.00009	T	0.663534	0.27241	T	0.012754522	0.00041	0.02262769	0.00284	0.012754522	0.00041	0.02262769	0.00284	-3.529	0.16840	T	.	.	0.067	0.03964	B	.;.	.;.	-0.105963	0.03606	0.708	0.85316935220186529	0.15817	0.16084	0.19223	N	AEFBCI	0.069084	0.13659	N	-1.27119278921302	0.04026	0.1809841	-1.17909938010335	0.06259	0.3007581	0.999655942333059	0.41424	0.706548	0.73137	0	0.697927	0.68747	0	0.667671	0.60360	0	0.714379	0.83352	0	.	.	4.59	0.287	0.14965	-1.108000	0.03423	-0.878000	0.07076	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.685000	0.33688	0.5588:0.0:0.4412:0.0	6.639	0.22089	207	0.91931	.;.	.	.	.	.	.	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	570.98	34	chr2	96551460	.	G	A	570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=-9.560e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:20,19:39:99:585,0,577	20	0	1	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|1:131,26:157:99:0|1:97185336_GC_G:697,0,5402:97185336	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|1:134,26:160:99:0|1:97185336_GC_G:688,0,5548:97185336	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|1:135,26:161:99:0|1:97185336_GC_G:685,0,5590:97185336	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|1:139,26:165:99:0|1:97185336_GC_G:673,0,5733:97185336	3	0	18	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E,	.	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.996	D	0.981	D	.	.	1.000	N	1.04	L	2.27	T	-1.043	T	0.055	T	0.127	0.368	5.998	0.142	0.033	0.116	4.893	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	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	0.25	2721.84	153	chr2	97243982	.	A	G	2721.84	.	AC=10;AF=0.250;AN=40;BaseQRankSum=1.96;DP=2009;ExcessHet=6.5132;FS=12.145;InbreedingCoeff=-0.3324;MLEAC=10;MLEAF=0.250;MQ=38.40;MQRankSum=-3.421e+00;QD=1.82;ReadPosRankSum=0.177;SOR=1.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,15:162:99:0|1:97243981_C_T:187,0,6127:97243981	10	0	10	1
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V,	.	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.566	P	0.11	B	.	.	1.000	N	-0.695	N	2.35	T	-1.001	T	0.013	T	0.162	0.638	7.428	-0.226	0.036	-0.164	4.757	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	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	0.25	3278.89	148	chr2	97243989	.	C	T	3278.89	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.381;DP=2004;ExcessHet=6.5132;FS=9.348;InbreedingCoeff=-0.3333;MLEAC=10;MLEAF=0.250;MQ=38.06;MQRankSum=-3.253e+00;QD=2.26;ReadPosRankSum=0.655;SOR=1.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,17:162:99:0|1:97243981_C_T:277,0,6037:97243981	10	0	10	1
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|1:52,77:129:99:0|1:97513219_T_C:3077,0,1952:97513219	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|1:55,87:142:99:0|1:97513219_T_C:3488,0,2048:97513219	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|1:62,96:158:99:0|1:97513244_G_T:3844,0,2313:97513244	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|1:65,99:164:99:0|1:97513244_G_T:3961,0,2410:97513244	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|1:65,99:164:99:0|1:97513244_G_T:3961,0,2410:97513244	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|1:66,109:175:99:0|1:97513268_C_T:4358,0,2443:97513268	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|1:66,112:178:99:0|1:97513268_C_T:4484,0,2434:97513268	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|1:66,111:177:99:0|1:97513268_C_T:4462,0,2437:97513268	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|1:67,112:179:99:0|1:97513268_C_T:4466,0,2436:97513268	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	0/1:66,37:103:99:810,0,1649	0	0	20	1
chr2	97580547	97580547	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon4:c.C472T:p.L158F,	.	.	457	1062	3	0	0	3	0.00141044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0112	0.0113818	0.0041	0.0384	0.0049	0	0	0.0001	0.0083	0	0.0035731	93	26028	rs2922614	0.0009	0.0009	0.0010	0.0008	0.0328	0.0009	0.0009	0.0311	0.0305	0.0328	0.0019	0	2.819e-05	0	0.0014	5.213e-05	0.0020	0.0004	0.0090	0.0090	0.0093	0.0088	0.0313	0.0086	0.0085	0.0299	0.0293	0.0313	0	0.0037	0	0	0	0	0.0001	0.0052	0.0002	.	.	.	0.277	0.21880	T	0.008	0.14655	B	0.004	0.10090	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.342	0.39153	.	.	.	.	.	.	.	0.008234829	0.00187	T	.	.	.	.	.	.	.	0.248417906384	0.24464	0.5369368201188645	0.53618	.	.	0.837342858315	0.87688	D	0.024045	0.18245	T	-0.437594	0.01336	T	-0.375588	0.36237	T	.	.	.	0.562144	0.19728	T	0.049366586	0.08753	0.08158674	0.18552	0.049366586	0.08753	0.08158674	0.18551	-6.556	0.50716	T	.	.	0.372	0.59296	A	.;.	.;.	1.404497	0.18190	13.60	0.5292917733810556	0.04841	0.10131	0.15721	N	AEFI	.	.	.	.	.	.	.	.	.	9.0821358323059E-6	0.01202	0.163922	0.03765	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24341	0.04801	0	0.0489367	0.08445	1.64	-0.407	0.11768	0.999000	0.29358	-0.460000	0.09044	-0.739000	0.03678	0.858000	0.30578	0.000000	0.08366	0.001000	0.02609	0.1931:0.2888:0.5181:0.0	3.016	0.05694	387	0.83408	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1186.98	38	chr2	97580547	.	G	A	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.850e-01;DP=918;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.50;MQRankSum=-7.361e+00;QD=9.20;ReadPosRankSum=-1.094e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/1:76,53:129:99:1201,0,1924	20	0	1	0
chr2	102166230	102166230	T	C	exonic	IL1R1	.	nonsynonymous SNV	IL1R1:NM_001320983:exon4:c.T172C:p.Y58H	.	.	424	1078	18	2	0	22	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.037	B	0.063	B	0.901	N	1.000	N	-0.03	N	2.8	T	-0.938	T	0.013	T	0.149	2.334	13.76	-2.39	-0.314	-0.203	11.584	0.098	0.00665824055646	0.0012	0.000798722	0.0018	9.612e-05	0.0006	0	0.0002	0.0027	0.0011	0.0016	0.0016817	260	154602	rs34889382	0.0015	0.0015	0.0014	0.0015	0.0104	0.0014	0.0014	0.0083	0.0075	0.0004	0.0010	0.0101	0	0.0003	0.0104	0.0013	0.0024	0.0013	0.0015	0.0015	0.0016	0.0013	0.0019	0.0013	0.0012	0.0016	0.0015	0.0002	0	0.0011	0.0153	0	0.0003	0.0102	0.0019	0.0033	0.0008	0.773	0.12187	T	0.591	0.08189	T	0.028	0.20876	B	0.063	0.27082	B	0.901197	0.08619	N	0.957187	0.999999	0.19781	N	0.255	0.09829	N	2.8	0.11082	T	-0.58	0.21003	N	0.211	0.23506	-0.9376	0.42994	T	0.013	0.05081	T	10	0.0037120283	0.00069	T	0.006658	0.17585	T	0.098	0.28162	.	.	0.230578612272	0.22657	0.73700103169836	0.73645	0.338698603847	0.35831	0.344494819641	0.17108	T	0.004703	0.26635	T	-0.619492	0.00111	T	-0.657507	0.08435	T	0.00789218586577742	0.00093	T	0.665033	0.27384	T	0.071108714	0.15718	0.0410441	0.04577	0.071108714	0.15718	0.0410441	0.04576	-5.231	0.39255	T	.	.	0.089	0.17360	B	.;.;.;.;.;.	.;.;.;.;.;.	1.012634	0.13919	10.48	0.90119739370330354	0.19401	0.03407	0.08526	N	ALL	0.076834	0.15466	N	-1.17856681754949	0.05325	0.2424616	-1.12025283461417	0.07313	0.3552734	0.99999998499494	0.74766	0.713056	0.82018	0	0.588066	0.40923	0	0.573888	0.23631	0	0.670209	0.66018	0	.	.	5.75	-2.39	0.06223	-0.021000	0.12445	-0.594000	0.08306	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0:0.2245:0.0:0.7755	11.584	0.50164	829	0.39537	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|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	1	0	0	0	0.04762	2315.11	33	chr2	102166230	.	T	C	2315.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.25;DP=841;ExcessHet=0.1072;FS=1.867;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.040e-01;SOR=0.878	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1242,0,902	19	0	2	0
chr2	102175534	102175534	G	A	exonic	IL1R1	.	nonsynonymous SNV	IL1R1:NM_001320983:exon9:c.G760A:p.G254R	.	.	425	1077	18	2	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.999	D	0.964	D	0.720	N	1.000	N	1.995	M	4.41	T	-1.041	T	0.044	T	0.412	2.187	13.27	4.35	1.318	2.228	7.834	0.121	0.0119043415428	0.0012	0.000798722	0.0018	9.61e-05	0.0006	0	0.0002	0.0027	0.0011	0.0016	0.0016623	257	154602	rs34835752	0.0015	0.0015	0.0014	0.0015	0.0102	0.0014	0.0014	0.0081	0.0074	0.0004	0.0010	0.0101	0	0.0003	0.0102	0.0013	0.0024	0.0013	0.0015	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0016	0.0015	0.0002	0	0.0011	0.0153	0	0.0003	0.0102	0.0018	0.0033	0.0008	0.008	0.58626	D	0.3	0.31125	T	0.999	0.77913	D	0.964	0.71005	D	0.719718	0.09945	N	0.892392	1	0.19989	N	2.13	0.59329	M	3.83	0.04852	T	-2.64	0.63901	D	0.063	0.27197	-1.0414	0.16890	T	0.044	0.18742	T	10	0.004638791	0.00097	T	0.011904	0.29978	T	0.121	0.33580	0.353	0.35246	0.276898752692	0.27294	0.4624507268944144	0.46163	0.498436254075	0.48318	0.338012158871	0.16140	T	0.010983	0.47009	T	-0.479095	0.00748	T	-0.455836	0.27054	T	0.0179106647910053	0.00518	T	0.817618	0.47476	T	0.16080192	0.36047	0.1890055	0.42222	0.16080192	0.36046	0.1890055	0.42221	-4.401	0.29571	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	2.258503	0.28859	17.93	0.99228538521057619	0.56151	0.08097	0.14067	N	AEFBI	0.156399	0.28175	N	-0.0838279245298101	0.38100	2.226452	-0.171238933650039	0.32600	1.856322	0.997406078786632	0.35583	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	5.24	4.35	0.51454	1.576000	0.36113	5.900000	0.50875	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.925000	0.46118	0.1109:0.1628:0.7262:0.0	7.834	0.28519	819	0.41190	Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4334.11	40	chr2	102175534	.	G	A	4334.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.12;DP=975;ExcessHet=0.1072;FS=1.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.37;SOR=0.807	GT:AD:DP:GQ:PL	0/1:55,86:141:99:2221,0,1410	19	0	2	0
chr2	102526298	102526298	G	A	exonic	SLC9A4	.	nonsynonymous SNV	SLC9A4:NM_001011552:exon11:c.G1990A:p.G664R,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.564	P	0.048	B	0.002	N	1.000	N	0.805	L	0.94	T	-1.022	T	0.068	T	0.138	1.886	12.27	-1.17	-0.454	0.556	10.820	0.107	0.0154110727445	0.0022	0.000199681	0.0029	0.0002	0.0003	0	0.0011	0.0050	0.0022	0.0002	0.0027296	422	154602	rs150367489	0.0031	0.0031	0.0032	0.0030	0.0038	0.0031	0.0030	0.0037	0.0036	0.0003	0.0010	0.0005	2.521e-05	0.0021	0.0009	0.0038	0.0031	0.0002	0.0019	0.0019	0.0020	0.0018	0.0035	0.0017	0.0016	0.0031	0.0030	0.0005	0	0.0005	0	0	0.0012	0	0.0035	0.0038	0	0.141	0.25560	T	0.164	0.31026	T	0.564	0.38410	P	0.048	0.24975	B	0.001784	0.00826	N	2.759140	1	0.08975	N	0.695	0.17993	N	0.94	0.43672	T	-1.42	0.34992	N	0.226	0.25377	-1.0221	0.23031	T	0.068	0.27980	T	10	0.00434497	0.00088	T	0.015411	0.36125	T	0.107	0.30369	0.24	0.17218	0.18274738541	0.17906	0.3720665252234536	0.37120	0.174985095503	0.19701	0.31788533926	0.13100	T	0.037358	0.24446	T	-0.620244	0.00110	T	-0.66331	0.08045	T	0.00630734206903649	0.00070	T	0.536546	0.18022	T	0.053553026	0.10151	0.07325155	0.15898	0.053553026	0.10151	0.07325155	0.15898	-3.564	0.17338	T	.	.	0.101	0.17530	B	.	.	1.210698	0.16035	12.27	0.77948707599519951	0.12091	0.00567	0.02575	N	AEFBI	0.020441	0.00807	N	-1.24093504913706	0.04420	0.19946	-1.28069536126792	0.04691	0.2218902	1.39680447917576E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.8	-1.17	0.09152	0.603000	0.23848	0.841000	0.22043	-2.216000	0.00350	0.212000	0.24446	0.010000	0.20010	0.001000	0.02609	0.5663:0.0:0.4337:0.0	10.820	0.45805	556	0.71678	Sodium/hydrogen exchanger, regulatory region	.	.	.	.	.	Likely benign	0	0	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	1407.98	35	chr2	102526298	.	G	A	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-3.190e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1422,0,1520	20	0	1	0
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	1/1:0,13,0:13:39:331,39,0,331,39,331	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|2:0,63,75:138:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:4981,3137,2948,1991,0,2580:108259008	3	5	3	0
chr2	108763435	108763435	G	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.G2896T:p.V966F,	.	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.998	D	0.889	P	.	.	1.000	D	1.04	L	1.62	T	-1.003	T	0.127	T	0.741	2.939	15.80	5.19	2.570	7.962	19.087	0.223	0.014851084738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.001	0.83351	D	0.998	0.73220	D	0.889	0.63100	P	.	.	.	.	0.997975	0.81001	D	2.16	0.60381	M	1.62	0.28189	T	-3.21	0.64826	D	0.584	0.60495	-1.0034	0.28933	T	0.127	0.43318	T	9	0.59004754	0.66328	D	0.014851	0.35231	T	0.223	0.52023	0.166	0.07071	0.491313100916	0.48765	0.6887896040147302	0.68818	0.475146259266	0.46692	0.67405974865	0.63417	T	0.744949	0.92966	D	0.0664727	0.60415	T	-0.142293	0.59919	T	0.870743259743357	0.52065	D	0.779722	0.41422	T	0.33517745	0.55893	0.3429482	0.60013	0.33517745	0.55893	0.3429482	0.60012	-3.922	0.22632	T	.	.	0.211	0.43882	B	.	.	3.734861	0.53444	23.4	0.99110145398610239	0.52699	0.97918	0.78116	D	AEFBCI	0.857690	0.77509	D	0.63236610813328	0.75231	6.269793	0.654697553849306	0.78961	6.982823	0.999999999999991	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	8.060000	0.89259	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.087	0.93192	836	0.38045	.	.	.	.	.	.	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	1572.98	35	chr2	108763435	.	G	T	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.430e-01;DP=816;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=-5.120e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1587,0,1433	20	0	1	0
chr2	109419552	109419552	C	T	exonic	SH3RF3	.	nonsynonymous SNV	SH3RF3:NM_001099289:exon5:c.C1313T:p.S438L,	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.067	B	0.011	B	0.721	N	1.000	N	.	.	2.14	T	-1.016	T	0.102	T	0.143	0.725	7.857	2.53	0.383	0.629	7.844	0.039	0.0196122379425	0.0012	0.000599042	0.0029	0.0008	0.0010	0	0.0031	0.0039	0	0.0029	0.0012613	195	154602	rs183621731	0.0015	0.0015	0.0015	0.0015	0.0022	0.0015	0.0014	0.0020	0.0019	0.0002	0.0004	0	5.142e-05	0.0020	0.0005	0.0016	0.0013	0.0022	0.0010	0.0010	0.0010	0.0010	0.0019	0.0009	0.0008	0.0012	0.0011	0.0001	0	0.0012	0.0003	0	0.0018	0	0.0014	0.0009	0.0019	0.331	0.13088	T	0.19	0.28482	T	0.067	0.23653	B	0.011	0.15521	B	0.720984	0.06313	N	1.132760	0.999981	0.18198	N	.	.	.	2.14	0.19450	T	-2.13	0.48354	N	0.211	0.23506	-1.0161	0.24980	T	0.102	0.37819	T	9	0.004759282	0.00101	T	0.019612	0.42016	T	0.039	0.10176	.	.	0.0675242888579	0.06100	0.18954199825366758	0.18872	0.168584170926	0.19010	0.436419785023	0.30088	T	0.046706	0.27506	T	-0.601463	0.00143	T	-0.638526	0.09777	T	0.0106168482138741	0.00148	T	0.589041	0.21605	T	0.09286018	0.21795	0.0760286	0.16798	0.09286018	0.21795	0.0760286	0.16798	-5.137	0.38295	T	.	.	0.062	0.01367	B	.	.	1.006234	0.13851	10.40	0.98588149819994664	0.43336	0.06331	0.12329	N	AEFDGBI	0.051874	0.09206	N	-0.701984791015431	0.15964	0.8093264	-0.711070688220547	0.16685	0.8838186	0.999851479558789	0.44174	0.643511	0.44296	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.26	2.53	0.29594	0.725000	0.25638	0.384000	0.17813	0.524000	0.24156	0.277000	0.25113	0.000000	0.08366	0.324000	0.25064	0.0:0.7439:0.0:0.2561	7.844	0.28576	334	0.86273	.	.	.	.	.	.	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	1441.98	33	chr2	109419552	.	C	T	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.147e+00;DP=803;ExcessHet=0.0000;FS=1.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.360e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1456,0,1562	20	0	1	0
chr2	112370213	112370213	C	T	splicing	RGPD5;RGPD8	NM_005054:exon23:c.5264-1G>A;NM_001164463:exon23:c.5264-1G>A	.	.	.	.	708	812	2	0	0	2	0.00123001	1.0000	0.758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.076	9.395	0.719	0.680	3.806	7.291	.	.	.	.	0.0002	0	0.0003	0	0	3.14e-05	0	0.0009	3.84e-05	1	26028	rs770937856	6.459e-05	7.139e-05	2.998e-05	9.956e-05	0.0008	5.344e-05	4.946e-05	0.0007	0.0006	0	0.0001	0	0	0	0.0006	1.596e-05	0	0.0008	2.895e-05	3.995e-05	0	5.99e-05	0.0005	9.76e-06	5.56e-06	8.516e-05	3.547e-05	0	0	7.246e-05	0	0	0	0	1.578e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.397932	0.02389	T	-0.440628	0.28738	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.984353	0.82587	27.8	0.87471103616885826	0.17251	0.70677	0.34690	D	AEFBCI	.	.	.	0.430173723351073	0.63088	4.53603	0.0728912594284478	0.43192	2.626008	3.7559017742205E-5	0.03775	0.164513	0.03853	0	0.195528	0.04277	0	0.063197	0.01477	0	0.093733	0.02929	0	0.618098	0.41109	0.719	0.719	0.17362	4.304000	0.58899	7.228000	0.57865	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:1.0:0.0:0.0	7.291	0.25540	929	0.16858	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	660.34	38	chr2	112370213	.	C	T	660.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.950e-01;DP=690;ExcessHet=0.0000;FS=2.329;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=44.06;MQRankSum=-2.303e+00;QD=12.23;ReadPosRankSum=0.945;SOR=0.407	GT:AD:DP:GQ:PL	0/1:23,31:54:99:674,0,445	19	0	1	1
chr2	120222370	120222370	C	T	exonic	TMEM185B	.	nonsynonymous SNV	TMEM185B:NM_024121:exon1:c.G607A:p.V203I,	.	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0063	0	0	0	0	0.0003	0	0.0102	0.0005692	88	154602	rs551008780	0.0006	0.0006	0.0003	0.0009	0.0094	0.0006	0.0006	0.0088	0.0086	3.165e-05	0	0	2.798e-05	0	0.0014	5.005e-05	0.0007	0.0094	0.0003	0.0003	0.0002	0.0004	0.0101	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0.0002	0	0	0	0	0.0101	0.71	0.04044	T	0.501	0.11153	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.997567	0.22606	N	-1.995	0.00197	N	1.97	0.22067	T	0.19	0.04947	N	0.037	0.01135	.	.	.	.	.	.	.	0.004203975	0.00084	T	.	.	.	.	.	.	.	0.537262924806	0.53376	0.3218051688916848	0.32093	0.187302612443	0.21046	0.550898313522	0.45984	T	0.001997	0.01403	T	-0.656454	0.00066	T	-0.708621	0.05366	T	.	.	.	0.605739	0.22785	T	0.024513133	0.01291	0.034353644	0.02486	0.024513133	0.01291	0.034353644	0.02486	-4.439	0.30082	T	.	.	0.079	0.07318	B	.	.	2.512071	0.32444	19.04	0.95413741429505683	0.26883	0.76041	0.37265	D	AEFDGBCI	0.184390	0.31171	N	.	.	.	.	.	.	0.999999768463324	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	3.99	3.12	0.34986	4.602000	0.60805	.	.	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.0:0.7844:0.0:0.2156	6.308	0.20358	788	0.46569	.	.	.	.	.	.	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	2591.98	34	chr2	120222370	.	C	T	2591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.070;DP=935;ExcessHet=0.0000;FS=2.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=1.20;SOR=0.761	GT:AD:DP:GQ:PL	0/1:87,100:187:99:2606,0,2296	20	0	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,201,0:201:99:.:.:6003,603,0,6003,603,6003	4	10	6	0
chr2	130508806	130508806	G	A	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.C430T:p.H144Y	.	.	449	1061	12	0	0	12	0.00562324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.627	D	2.5	M	0.35	T	-0.474	T	0.235	T	0.545	2.124	13.06	1.3	1.031	2.445	6.050	0.217	.	.	0.00539137	0.0141	0.0022	0.0746	0	0.0220	0.0100	0.0040	0.0181	0.0021131	55	26028	rs200241661	0.0075	0.0076	0.0076	0.0075	0.0347	0.0074	0.0073	0.0333	0.0327	0.0017	0.0347	0.0047	0	0.0071	0.0050	0.0068	0.0071	0.0091	0.0038	0.0067	0.0032	0.0046	0.0184	0.0035	0.0033	0.0156	0.0146	0.0009	0	0.0184	0.0034	0	0.0041	0	0.0033	0.0012	0.0011	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.627456	0.32759	D	2.795	0.81503	M	0.35	0.58029	T	-1.17	0.29933	N	0.378	0.56317	-0.4742	0.69576	T	0.235	0.60173	T	7	0.004750341	0.00100	T	.	.	.	0.217	0.51112	.	.	0.0920862733494	0.08535	0.2063709322326568	0.20554	.	.	0.74140650034	0.73180	T	0.007348	0.06762	T	-0.00026701	0.51618	T	-0.23816	0.50977	T	0.0774815729908045	0.09662	T	0.858314	0.54891	D	0.2037661	0.42464	0.22745368	0.47756	0.2037661	0.42464	0.22745368	0.47755	-10.639	0.77642	D	.	.	0.691	0.72569	P	.;.;.	.;.;.	2.099426	0.26707	17.21	0.98683239045241578	0.44652	0.48153	0.28143	N	AEFI	0.050866	0.08931	N	-0.12382430985179	0.36356	2.100412	-0.274116011698966	0.28954	1.618401	2.69858729046069E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.3	1.3	0.20778	2.688000	0.46651	.	.	0.288000	0.18739	0.998000	0.41325	1.000000	0.68203	0.045000	0.14751	0.0:0.0:1.0:0.0	6.050	0.19005	976	0.04745	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	872.98	46	chr2	130508806	.	G	A	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.725e+00;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.77;MQRankSum=1.20;QD=13.64;ReadPosRankSum=0.887;SOR=0.479	GT:AD:DP:GQ:PL	0/1:36,28:64:99:887,0,1265	20	0	1	0
chr2	135150478	135150478	G	A	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon18:c.G2033A:p.C678Y	Warburg micro syndrome 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.989	D	0.000	D	1.000	D	1.52	L	0.95	T	-0.816	T	0.226	T	0.889	4.761	26.7	5.73	2.704	9.817	19.889	0.462	0.0328175055306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.194	0.28120	T	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	0.94	0.43672	T	-4.84	0.81350	D	0.806	0.80180	-0.8158	0.54196	T	0.226	0.59007	T	10	0.7528297	0.75763	D	0.032818	0.54540	D	0.462	0.75889	0.292	0.25400	0.787845960387	0.78587	0.7804006258329238	0.77991	1.08417428134	0.77226	0.861341714859	0.91309	D	0.410921	0.76552	T	0.229901	0.76712	D	0.0924597	0.76410	D	0.986279542489515	0.77035	D	0.965303	0.87188	D	0.6975966	0.77925	0.74918914	0.85175	0.6975966	0.77927	0.74918914	0.85176	-12.259	0.86089	D	0.8525736345874876	0.91832	0.967	0.90188	P	.;.;.	.;.;.	5.399074	0.90416	31	0.99790559603038553	0.87661	0.99076	0.90873	D	AEFBI	0.921676	0.89551	D	0.819535789666287	0.87312	9.174498	0.842327661817593	0.92561	11.49749	0.999999999999983	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	9.949000	0.98962	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.889	0.96921	847	0.35998	.;.;.	.	.	.	.	.	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	703.98	43	chr2	135150478	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.627e+00;DP=737;ExcessHet=0.0000;FS=2.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.507;SOR=0.343	GT:AD:DP:GQ:PL	0/1:21,30:51:99:718,0,543	20	0	1	0
chr2	135788386	135788386	G	A	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon17:c.C5722T:p.R1908C,	Lactase deficiency, congenital, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1003199	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.446	N	1.000	N	1.79	L	1.66	T	-1.010	T	0.065	T	0.172	-0.289	2.620	0.597	0.075	0.259	0.491	0.055	0.0111566841862	0.0002	.	0.0003	0	0	0.0002	0.0006	0.0003	0	0.0002	0.0002135	33	154602	rs138964370	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0	0	0.0003	0.0005	0.0002	0.0001	0.0004	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	7.091e-05	5.748e-05	0.0001	8.876e-05	0	0	0	0	0.0002	0.0003	0	0.0002	0	0	0.185	0.21550	T	0.199	0.27679	T	0.0	0.02946	B	0.0	0.01387	B	0.445709	0.04786	N	1.288110	1	0.08975	N	2.3	0.65703	M	1.66	0.27486	T	-1.11	0.28703	N	0.08	0.05542	-1.0100	0.26917	T	0.065	0.26948	T	10	0.025337279	0.00731	T	0.011157	0.28497	T	0.055	0.15663	.	.	0.186928172975	0.18263	0.330418620443657	0.32954	0.840555430848	0.68044	0.20786485076	0.00724	T	0.33152	0.70159	T	-0.482823	0.00712	T	-0.611308	0.11878	T	0.0257030841879139	0.01366	T	0.321368	0.06521	T	0.07450825	0.16725	0.03845713	0.03719	0.07450825	0.16725	0.03845713	0.03719	-5.526	0.42110	T	.	.	0.087	0.11220	B	.	.	0.767371	0.11374	7.987	0.66322029932879845	0.08025	0.09948	0.15585	N	AEFBCI	0.130138	0.24858	N	-1.33025772250001	0.03334	0.1487552	-1.34608645523797	0.03852	0.1805372	0.999472121254258	0.39898	0.498214	0.20090	0	0.547309	0.14657	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.82	0.597	0.16685	0.288000	0.18695	-0.009000	0.13087	-1.778000	0.00656	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2099:0.258:0.203:0.329	0.491	0.00526	244	0.90442	.	.	.	.	.	.	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	4445.98	35	chr2	135788386	.	G	A	4445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=2252;ExcessHet=0.0000;FS=0.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=0.836;SOR=0.770	GT:AD:DP:GQ:PL	0/1:228,182:410:99:4460,0,5438	20	0	1	0
chr2	135803947	135803947	T	C	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon11:c.A4646G:p.Y1549C,	Lactase deficiency, congenital, Autosomal recessive	.	0	1503	19	0	0	19	0.00628099	.	.	284150	Inborn_genetic_diseases|Lactose_intolerance|not_provided|Congenital_lactase_deficiency	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951|MedGen:C3661900|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.118	B	0.271	B	0.004	N	0.957	N	2.19	M	1.45	T	-0.982	T	0.081	T	0.512	1.507	10.99	0.391	-0.156	0.371	2.695	0.108	0.00693093645738	0.0002	0.000798722	0.0010	0.0001	0.0014	0	0	0.0013	0.0023	0.0006	0.0008538	132	154602	rs147495948	0.0006	0.0006	0.0005	0.0006	0.0095	0.0005	0.0005	0.0075	0.0068	0.0005	0.0013	0.0007	2.519e-05	0	0.0095	0.0005	0.0011	0.0005	0.0009	0.0009	0.0007	0.0010	0.0040	0.0007	0.0007	0.0032	0.0029	0.0003	0	0.0040	0	0	0	0.0034	0.0007	0.0033	0.0002	0.154	0.24277	T	0.079	0.42086	T	0.118	0.26577	B	0.271	0.39904	B	0.003701	0.34585	N	0.321131	0.957404	0.26263	N	1.535	0.38868	L	1.45	0.32482	T	-3.37	0.66665	D	0.471	0.50688	-0.9815	0.34655	T	0.081	0.31972	T	10	0.052951872	0.05408	T	0.006931	0.18345	T	0.108	0.30607	.	.	0.434825671192	0.43100	0.7974733071219136	0.79700	0.863038074097	0.69047	0.320655941963	0.13520	T	0.41368	0.76747	T	-0.445592	0.01199	T	-0.463279	0.26242	T	0.0384228685559802	0.03407	T	0.957071	0.83814	D	0.17254777	0.37951	0.24059786	0.49438	0.17254777	0.37951	0.24059786	0.49437	-7.935	0.60626	D	.	.	0.166	0.36594	B	.	.	0.970545	0.13477	9.986	0.98874049049194701	0.47702	0.41480	0.26666	N	AEFDBI	0.379394	0.46243	N	-0.638579762997715	0.17794	0.9186643	-0.724957828444461	0.16340	0.8639469	0.476227674103568	0.20748	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.78	0.391	0.15506	0.379000	0.20315	-1.936000	0.04469	-0.122000	0.13826	0.117000	0.23121	0.000000	0.08366	0.023000	0.12082	0.1054:0.133:0.2112:0.5504	2.695	0.04815	242	0.90534	.	.	.	.	.	.	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	2214.11	34	chr2	135803947	.	T	C	2214.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.19;DP=839;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.799;SOR=0.665	GT:AD:DP:GQ:PL	0/1:29,44:73:99:1129,0,768	19	0	2	0
chr2	157308720	157308720	C	T	exonic	GALNT5	.	nonsynonymous SNV	GALNT5:NM_014568:exon9:c.C2674T:p.P892S	.	.	424	1080	16	2	0	20	0.00917431	.	.	2819119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.284	B	0.168	B	0.795	N	0.926	D	2.015	M	0.39	T	-0.839	T	0.142	T	0.225	2.378	13.91	4.88	1.324	1.250	9.841	0.122	0.0115885196238	0.0049	0.00199681	0.0046	0.0010	0.0045	0	0.0009	0.0068	0.0067	0.0014	0.0045472	703	154602	rs143599667	0.0053	0.0053	0.0053	0.0054	0.0101	0.0052	0.0052	0.0080	0.0073	0.0010	0.0054	0.0179	2.522e-05	0.0012	0.0101	0.0058	0.0061	0.0018	0.0047	0.0047	0.0047	0.0046	0.0072	0.0044	0.0043	0.0064	0.0062	0.0011	0	0.0072	0.0176	0.0002	0.0004	0	0.0069	0.0071	0.0008	0.126	0.27194	T	0.039	0.51112	D	0.284	0.32165	B	0.168	0.35187	B	0.795003	0.09367	N	0.899922	0.926476	0.36835	D	1.745	0.45235	L	0.39	0.57419	T	-2.22	0.49846	N	0.169	0.17966	-0.8389	0.52720	T	0.142	0.46386	T	10	0.005886346	0.00132	T	0.011589	0.29367	T	0.122	0.33800	.	.	0.74636996336	0.74408	0.6876907580907651	0.68709	0.178225233787	0.20055	0.294013023376	0.09512	T	0.023739	0.18066	T	-0.477634	0.00764	T	-0.452892	0.27377	T	0.0179633866195233	0.00521	T	0.656534	0.26618	T	0.069989406	0.15379	0.11520474	0.27809	0.069989406	0.15379	0.11520474	0.27808	-8.956	0.67413	D	.	.	0.080	0.07745	B	.	.	2.512935	0.32460	19.05	0.99290656901170071	0.58255	0.58481	0.30653	D	AEFBI	0.058254	0.10917	N	-0.0142276765954143	0.41211	2.461023	0.0581654468663921	0.42468	2.569197	0.99999229942457	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	4.88	0.63131	1.443000	0.34668	3.352000	0.37793	0.599000	0.40250	0.784000	0.29521	0.999000	0.35428	0.988000	0.63387	0.0:0.8318:0.0:0.1682	9.841	0.40168	560	0.71333	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	644.98	27	chr2	157308720	.	C	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.600e-01;DP=643;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.16;ReadPosRankSum=1.31;SOR=0.504	GT:AD:DP:GQ:PL	0/1:8,24:32:99:659,0,197	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	0/1:33,37,0:70:99:955,0,780,1054,891,1946	10	2	8	0
chr2	178588646	178588646	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon132:c.A35884T:p.N11962Y	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	D	1.0	D	0.999	D	.	.	1.000	D	3.09	M	0.24	T	0.087	D	0.477	T	0.55	2.293	13.63	6.16	2.367	6.235	16.806	0.495	0.0334271423495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999996	0.58761	D	1.94	0.52218	M	0.24	0.59583	T	-5.63	0.86836	D	0.439	0.71498	0.087	0.83928	D	0.477	0.79961	T	9	0.42805198	0.57306	T	0.033427	0.54974	D	0.495	0.78036	0.538	0.64874	0.672034750773	0.66926	.	.	0.510668824719	0.49169	0.611162543297	0.54481	T	.	.	.	0.0121708	0.53320	T	-0.220294	0.52710	T	0.52273428440094	0.33466	D	0.909909	0.68911	D	.	.	.	.	.	.	.	.	-6.989	0.54420	T	.	.	0.148	0.32589	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.952122	0.39288	20.9	0.92832560905313688	0.22365	0.97825	0.77410	D	AEFBI	0.924869	0.90353	D	0.904421638460741	0.91976	11.16512	0.867169221919392	0.93977	12.41565	0.999999980506054	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	5.045000	0.64027	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.806	0.85530	405	0.82444	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;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	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1506.98	36	chr2	178588646	.	T	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.549e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-7.650e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1521,0,1742	20	0	1	0
chr2	178720636	178720636	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon77:c.C19394T:p.S6465F	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	D	0.171	B	0.207	B	.	.	0.998	D	2.675	M	-0.36	T	-0.298	T	0.369	T	0.184	0.844	8.410	4.97	2.770	0.551	16.713	0.283	0.0682445974442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	.	.	.	0.171	0.28729	B	0.207	0.37187	B	.	.	.	.	0.997516	0.43951	D	.	.	.	-0.36	0.68754	T	-2.66	0.56945	D	0.247	0.28849	-0.2984	0.75029	T	0.369	0.72887	T	9	0.172149	0.31972	T	0.068245	0.70395	D	0.283	0.60100	0.49	0.57573	0.496628014799	0.49298	.	.	0.148105740825	0.16702	0.285507917404	0.08271	T	.	.	.	-0.132323	0.31120	T	-0.42785	0.30181	T	0.324166992814601	0.25990	T	0.50225	0.17709	T	.	.	.	.	.	.	.	.	-6.918	0.53646	T	.	.	0.096	0.15520	B	.;.;.;.	.;.;.;.	2.902270	0.38468	20.7	0.95182647348234639	0.26355	0.19771	0.20789	N	AEFBI	0.181214	0.30853	N	0.054772766566553	0.44363	2.711699	0.104573467414795	0.44782	2.753366	0.0412182114002588	0.14474	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	4.97	0.65419	0.833000	0.27157	.	.	0.676000	0.76740	0.118000	0.23139	1.000000	0.68203	0.992000	0.67800	0.0:0.2364:0.7636:0.0	16.713	0.85248	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	481.98	34	chr2	178720636	.	G	A	481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=759;ExcessHet=0.0000;FS=3.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-3.091e+00;SOR=0.293	GT:AD:DP:GQ:PL	0/1:20,16:36:99:496,0,592	20	0	1	0
chr2	178777862	178777862	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon24:c.G4184C:p.R1395P	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	1451	68	3	0	74	0.0248656	.	.	56211	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|not_specified|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	1.655	L	0.24	T	-0.403	T	0.249	T	0.767	3.188	16.67	5.45	2.723	7.584	19.254	0.459	.	0.0058	0.0103834	0.0111	0.0012	0.0060	0.0088	0.0180	0.0116	0.0132	0.0174	0.010375	1604	154602	rs72647876	0.0097	0.0097	0.0093	0.0100	0.0171	0.0095	0.0095	0.0163	0.0160	0.0014	0.0081	0.0081	0.0042	0.0183	0.0137	0.0092	0.0102	0.0171	0.0084	0.0085	0.0071	0.0098	0.0162	0.0080	0.0079	0.0137	0.0131	0.0013	0	0.0153	0.0089	0.0102	0.0200	0.0102	0.0087	0.0114	0.0162	0.095	0.54683	T	0.005	0.72224	D	1.0	0.90584	D	0.997	0.97372	D	.	.	.	.	0.999288	0.58761	D	.	.	.	-0.14	0.65006	T	-4.19	0.85844	D	0.188	0.76760	-0.4030	0.71932	T	0.249	0.61855	T	9	0.008319944	0.00189	T	.	.	.	0.459	0.75687	.	.	.	.	.	.	0.552916037637	0.52078	0.748514950275	0.74228	T	.	.	.	-0.158262	0.27029	T	0.0135168	0.71209	D	0.0142363712654734	0.00281	T	0.940956	0.82493	D	.	.	.	.	.	.	.	.	-8.108	0.61805	D	.	.	0.515	0.65265	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.006971	0.59081	24.1	0.95907815994375256	0.28150	0.98680	0.85501	D	AEFGBI	0.981315	0.99870	D	0.803908257609293	0.86349	8.857237	0.804679695527492	0.90117	10.26354	0.999999999999429	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.45	5.45	0.79688	7.669000	0.82880	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.254	0.93927	346	0.85643	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.09524	7570.92	151	chr2	178777862	.	C	G	7570.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.68;DP=1317;ExcessHet=0.6776;FS=1.104;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-4.120e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:77,76:153:99:1854,0,1854	17	0	4	0
chr2	185804598	185804598	A	G	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A15292G:p.I5098V,	.	.	435	1058	27	2	0	31	0.0144388	.	.	3210115	FSIP2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.73	T	.	.	.	.	.	.	1.000	N	-0.55	N	1.1	T	-0.996	T	0.026	T	0.022	-1.119	0.126	-3.6	-0.590	-0.143	12.856	0.011	.	.	0.00658946	0.0162	0	0.0053	0	0.0013	0.0026	0.0269	0.0287	0.0023221	359	154602	rs116029352	0.0052	0.0049	0.0044	0.0059	0.0277	0.0051	0.0050	0.0267	0.0263	0.0005	0.0023	0.0006	2.802e-05	0.0024	0.0070	0.0041	0.0050	0.0277	0.0037	0.0037	0.0034	0.0040	0.0301	0.0035	0.0034	0.0261	0.0246	0.0010	0	0.0013	0.0012	0.0002	0.0021	0.0136	0.0047	0.0043	0.0301	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.1	0.00987	N	1.1	0.39050	T	0.18	0.05035	N	0.012	0.00125	-0.9963	0.30946	T	0.026	0.11043	T	7	0.0035538077	0.00064	T	.	.	.	0.011	0.01250	.	.	.	.	0.030669484624268203	0.03015	.	.	0.262273460627	0.05164	T	0.001205	0.00701	T	-0.727779	0.00025	T	-0.797908	0.01955	T	0.00868098556356589	0.00107	T	0.328467	0.06836	T	0.020307582	0.00585	0.041548263	0.04748	0.020307582	0.00584	0.041548263	0.04748	-4.119	0.25569	T	.	.	0.068	0.02861	B	.	.	-1.214428	0.00516	0.012	0.39593560357966201	0.02741	0.00227	0.01275	N	AEFI	.	.	.	-1.67149918017404	0.00948	0.04105339	-1.71557173476285	0.01070	0.0480477	8.30265016546679E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	-3.6	0.04277	-0.099000	0.10976	-0.220000	0.10772	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1283:0.1287:0.743:0.0	12.856	0.57271	735	0.53711	Fibrous sheath-interacting protein 2, C-terminal|Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1681.98	108	chr2	185804598	.	A	G	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.016e+00;DP=1959;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-6.200e-01;SOR=0.589	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1696,0,2070	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,14,0:32:69:.:.:69,0,195,117,231,348	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,14,0:32:69:.:.:69,0,195,117,231,348	0	0	8	4
chr2	189805814	189805814	-	A	exonic	PMS1	.	frameshift insertion	PMS1:NM_001321049:exon4:c.478dupA:p.L164Vfs*4,	.	.	439	771	31	0	281	312	0.0197076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2849.26	33	chr2	189805813	.	TA	TAA,T	2849.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-9.480e-01;DP=1006;ExcessHet=1.7912;FS=0.538;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=-3.040e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:24,17,0:41:99:332,0,539,405,590,994	15	0	5	0
chr2	196048358	196048358	A	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon4:c.T188G:p.L63W,	.	.	429	1083	10	0	0	10	0.00459559	.	.	2341874	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.986	D	0.154	N	0.993	N	1.525	L	1.58	T	-1.008	T	0.139	T	0.534	2.997	15.99	4.81	2.156	4.316	10.924	0.192	0.014925950496	.	0.000599042	0.0003	0	0.0002	0	0	0.0002	0	0.0015	0.0002652	41	154602	rs199626467	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0011	0.0010	0	0.0002	0	0	0	0.0016	0.0001	0.0004	0.0013	0.0002	0.0002	8.992e-05	0.0002	0.0021	0.0001	8.71e-05	0.0011	0.0009	4.809e-05	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.154361	0.17864	N	0.481828	1	0.08975	N	1.1	0.28011	L	1.49	0.31470	T	-2.21	0.89534	N	0.479	0.51405	-1.0085	0.27385	T	0.139	0.45772	T	10	0.013136417	0.00280	T	0.014926	0.35361	T	0.192	0.47115	.	.	0.597704877147	0.59451	0.313101131475013	0.31223	0.259900179881	0.28552	0.603887319565	0.53453	T	0.020198	0.15948	T	-0.363069	0.03960	T	-0.344741	0.39806	T	0.179022532461581	0.19173	T	0.718628	0.34901	T	0.17845112	0.38865	0.35276204	0.60848	0.17845112	0.38865	0.35276204	0.60848	-5.966	0.45994	T	.	.	0.478	0.73905	A	.;.;.	.;.;.	3.727264	0.53295	23.3	0.94997556217319357	0.25954	0.80628	0.40216	D	AEFBI	0.464356	0.51289	N	0.244696126402025	0.53377	3.506835	0.11690151758801	0.45414	2.804898	0.00127360257356908	0.08400	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.81	4.81	0.61401	4.334000	0.59076	10.938000	0.84325	0.691000	0.84096	0.856000	0.30544	1.000000	0.68203	0.178000	0.21234	1.0:0.0:0.0:0.0	10.924	0.46389	865	0.32612	.;.;.	.	.	.	.	.	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	1528.98	34	chr2	196048358	.	A	C	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=839;ExcessHet=0.0000;FS=1.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.05;SOR=0.865	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1543,0,1571	20	0	1	0
chr2	197078765	197078765	T	G	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001195144:exon16:c.A1588C:p.K530Q	.	.	435	1043	42	2	0	46	0.021576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.971	D	0.000	D	1.000	D	1.51	L	2.34	T	-0.206	T	0.362	T	0.526	4.997	29.3	5.25	2.326	7.825	15.608	0.188	0.044483328986	0.0043	0.00219649	0.0043	0.0003	0.0051	0	0.0002	0.0061	0.0078	0.0030	0.0042496	657	154602	rs61752172	0.0045	0.0045	0.0043	0.0047	0.0232	0.0044	0.0044	0.0200	0.0188	0.0009	0.0042	0.0174	0	0.0003	0.0232	0.0046	0.0052	0.0040	0.0038	0.0038	0.0042	0.0035	0.0058	0.0036	0.0035	0.0053	0.0051	0.0007	0.0066	0.0043	0.0173	0	0.0004	0.0238	0.0058	0.0019	0.0035	0.01	0.56456	D	0.055	0.46862	T	0.995	0.67487	D	0.971	0.72444	D	0.000000	0.84330	D	0.046886	0.999989	0.58761	D	0.89	0.21648	L	2.3	0.65931	T	-1.61	0.42575	N	0.669	0.67736	-0.2056	0.77526	T	0.362	0.72322	T	10	0.007460773	0.00169	T	0.044483	0.61512	D	0.188	0.46444	.	.	0.731554431525	0.72916	0.32170601744354904	0.32083	.	.	0.556903243065	0.46831	T	0.025182	0.18883	T	-0.279275	0.10743	T	-0.170629	0.57386	T	0.0258788176821459	0.01390	T	0.863714	0.70605	D	0.44360352	0.63634	0.26562166	0.52396	0.44360352	0.63634	0.26562166	0.52395	-10.304	0.76657	D	.	.	0.152	0.38080	B	.;.;.;.;.;.	.;.;.;.;.;.	4.500741	0.70384	25.5	0.99540422626555025	0.70461	0.95533	0.65100	D	AEFDBHCI	0.907504	0.86161	D	0.674634754167697	0.77971	6.778502	0.684628958700051	0.81211	7.474072	0.999999999999662	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.685742	0.62368	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	8.017000	0.88732	7.886000	0.72778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.608	0.76440	736	0.53558	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3508.11	35	chr2	197078765	.	T	G	3508.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.20;DP=984;ExcessHet=0.1072;FS=0.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=1.75;SOR=0.627	GT:AD:DP:GQ:PL	0/1:69,69:138:99:1746,0,1717	19	0	2	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	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	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:51,29:80:99:280,0,979	0	0	19	2
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	0/2:21,4,9,0:34:99:107,110,635,0,342,433,197,603,454,687	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	0/2:21,4,9,0:34:99:107,110,635,0,342,433,197,603,454,687	2	0	4	0
chr2	200892326	200892326	C	T	exonic	NIF3L1	.	nonsynonymous SNV	NIF3L1:NM_001142356:exon1:c.C383T:p.T128I	.	.	434	1087	1	0	0	1	0.00045977	.	.	3361967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.725	H	0.34	T	0.228	D	0.477	T	0.988	4.753	26.6	4.84	2.521	7.448	17.754	0.695	0.0491232894678	.	.	0.0003	0	0.0017	0	0	0.0001	0.0011	0.0002	0.0002199	34	154602	rs761036956	0.0001	0.0001	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	2.987e-05	0.0008	0	0	0	0	0.0001	0.0002	0.0002	8.539e-05	8.536e-05	7.705e-05	9.412e-05	0.0002	4.955e-05	3.961e-05	9.044e-05	7.009e-05	0	0	0.0001	0	0	0	0	0.0002	0	0	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.34	0.58176	T	-5.95	0.89152	D	0.987	0.99776	0.228	0.86377	D	0.477	0.79981	T	10	0.67722416	0.71064	D	0.049123	0.63676	D	0.695	0.88960	.	.	0.894397425128	0.89335	.	.	0.324672297079	0.34622	0.678758263588	0.64090	T	0.436136	0.78262	T	0.112746	0.65636	D	0.282757	0.87270	D	0.858703434467316	0.50934	D	0.974353	0.94130	D	0.9381911	0.95063	0.90467083	0.95309	0.9381911	0.95064	0.90467083	0.95309	-16.473	0.98387	D	.	.	0.925	0.88285	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.053680	0.84195	28.2	0.99906226109340257	0.97651	0.98564	0.84144	D	AEFBI	0.900591	0.84629	D	0.921059270198131	0.92751	11.60783	0.818780092555412	0.91067	10.70262	0.999999999999994	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.84	4.84	0.62125	7.521000	0.80758	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:1.0:0.0:0.0	17.754	0.88352	359	0.84979	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1479.98	34	chr2	200892326	.	C	T	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.531e+00;DP=807;ExcessHet=0.0000;FS=1.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-1.890e-01;SOR=0.903	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1494,0,1487	20	0	1	0
chr2	202952598	202952598	C	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon3:c.C82T:p.R28C	.	.	441	1070	11	0	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.804	P	0.051	N	1.000	D	1.79	L	.	.	-0.264	T	0.353	T	0.459	4.710	26.1	5.46	2.567	2.895	18.287	0.194	0.0109573943316	0.0003	0.000199681	0.0005	0.0002	0.0015	0	0	0.0003	0.0022	0.0008	0.0004463	69	154602	rs192573972	0.0003	0.0003	0.0003	0.0003	0.0168	0.0003	0.0003	0.0141	0.0131	0.0004	0.0015	0	0	0	0.0168	0.0001	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	0	0.0055	0.0016	0	0	0	0.0136	0.0002	0.0019	0.0008	0.011	0.72154	D	0.039	0.79402	D	0.995	0.73220	D	0.648	0.55529	P	0.050544	0.23060	N	0.366056	0.94809	0.39125	D	1.95	0.52479	M	.	.	.	-1.34	0.78891	N	0.463	0.58713	-0.2644	0.75967	T	0.353	0.71681	T	9	0.020588279	0.00477	T	0.010957	0.28083	T	0.194	0.47447	.	.	0.273503213844	0.26977	0.42086041258074336	0.42002	0.741878754513	0.63308	0.21025967598	0.00822	T	0.183861	0.53634	T	-0.268994	0.11869	T	-0.20472	0.54200	T	0.0734380806585915	0.09126	T	0.953805	0.83996	D	0.14000247	0.32318	0.08636636	0.20004	0.14000247	0.32317	0.08636636	0.20003	-7.341	0.56487	T	.	.	0.103	0.38080	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.008320	0.83146	28.0	0.99912041254882966	0.98095	0.90417	0.51576	D	AEFI	0.604286	0.59544	D	0.54030736074692	0.69492	5.364863	0.557127502577207	0.71893	5.724977	0.997466032780412	0.35646	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	3.003000	0.49192	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.287	0.90059	505	0.75648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	838.98	41	chr2	202952598	.	C	T	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.440e-01;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.07;ReadPosRankSum=-1.190e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:61,43:104:99:853,0,1388	20	0	1	0
chr2	203416965	203416965	C	A	exonic	ABI2	.	nonsynonymous SNV	ABI2:NM_001375752:exon6:c.C734A:p.P245H	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.94	D	0.002	N	1.000	D	1.845	L	1.28	T	-0.760	T	0.253	T	0.385	3.352	17.29	6.03	2.854	3.925	20.567	0.198	0.0262578418003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.029	0.65728	D	0.835	0.64070	P	0.701	0.62632	P	0.002167	0.37095	N	0.329134	0.998344	0.81001	D	.	.	.	0.96	0.47477	T	-5.02	0.92042	D	0.41	0.49783	-0.7601	0.57400	T	0.253	0.62349	T	10	0.3522545	0.52058	T	0.026258	0.49180	D	0.198	0.48105	0.323	0.30387	0.413703809202	0.40986	0.4315769627449175	0.43074	1.26271981833	0.82084	0.670385062695	0.62893	T	0.318647	0.69681	T	-0.0640842	0.42265	T	-0.329829	0.41489	T	0.979380667209625	0.72804	D	0.913009	0.93912	D	.	.	.	.	.	.	.	.	-10.873	0.78957	D	.	.	0.158	0.49979	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.159530	0.62453	24.5	0.99431543888586349	0.64276	0.95330	0.64301	D	AEFDBI	0.374369	0.45930	N	0.260109050856898	0.54140	3.580432	0.276406549159352	0.54163	3.582333	0.99861398571273	0.37309	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.034000	0.57000	5.991000	0.52331	0.587000	0.30956	0.945000	0.32849	1.000000	0.68203	0.331000	0.25224	0.0:1.0:0.0:0.0	20.567	0.99354	282	0.88846	.;.;.;.;.;.;.;.	.	.	.	.	.	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	2138.98	33	chr2	203416965	.	C	A	2138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.177e+00;DP=885;ExcessHet=0.0000;FS=5.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-9.130e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/1:96,88:184:99:2153,0,2420	20	0	1	0
chr2	206304914	206304914	A	G	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A386G:p.Q129R	.	.	432	1089	1	0	0	1	0.000458926	.	.	733082	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.001	B	0.014	N	1.000	N	0.895	L	2.32	T	-1.029	T	0.022	T	0.066	1.572	11.21	1.04	-0.001	1.356	3.876	0.023	0.00455120052973	0.0044	0.00199681	0.0029	0.0013	0.0018	0	0.0005	0.0042	0.0022	0.0015	0.0030724	475	154602	rs113954798	0.0052	0.0052	0.0054	0.0051	0.0062	0.0051	0.0051	0.0061	0.0061	0.0008	0.0025	0.0014	7.558e-05	0.0009	0.0005	0.0062	0.0062	0.0014	0.0035	0.0035	0.0037	0.0032	0.0060	0.0032	0.0031	0.0055	0.0053	0.0010	0	0.0043	0.0012	0	0.0003	0	0.0060	0.0019	0.0017	0.207	0.19854	T	0.285	0.23231	T	0.001	0.07471	B	0.001	0.04355	B	0.013823	0.01374	N	2.918020	1	0.08975	N	0.895	0.22405	L	2.32	0.16640	T	-1.29	0.32387	N	0.069	0.04188	-1.0290	0.20778	T	0.022	0.09284	T	10	0.0059749186	0.00134	T	0.004551	0.11220	T	0.023	0.04649	.	.	0.0846915920261	0.08053	0.02509220189559391	0.02460	0.0610700711973	0.06795	0.234301790595	0.02301	T	0.00573	0.17579	T	-0.682737	0.00046	T	-0.749755	0.03495	T	0.00408790035651783	0.00043	T	.	.	.	0.021973027	0.00830	0.040447157	0.04372	0.021973027	0.00830	0.040447157	0.04372	-3.592	0.17742	T	.	.	0.078	0.10883	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.676867	0.10455	7.172	0.9570937643052051	0.27615	0.09593	0.15314	N	AEFBI	0.057297	0.10661	N	-0.956651110609235	0.09544	0.4521581	-0.965009043567714	0.10577	0.5335823	0.00518236218977497	0.10855	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	4.86	1.04	0.19220	1.430000	0.34522	1.901000	0.29582	0.756000	0.94297	0.100000	0.22794	0.543000	0.25426	0.360000	0.25886	0.5978:0.0:0.1367:0.2654	3.876	0.08562	885	0.28214	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1454.98	34	chr2	206304914	.	A	G	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.677e+00;DP=877;ExcessHet=0.0000;FS=2.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-9.720e-01;SOR=0.873	GT:AD:DP:GQ:PL	0/1:45,60:105:99:1469,0,1162	20	0	1	0
chr2	215409718	215409718	G	A	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon15:c.C2144T:p.T715M	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	747275	not_provided|FN1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.974	D	0.001	D	1.000	D	1.905	M	2.26	T	-0.602	T	0.254	T	0.63	3.683	18.71	3.94	0.836	7.539	13.034	0.206	0.0387114186206	0.0007	0.00119808	0.0008	0.0002	8.651e-05	0.0001	0.0002	0.0003	0	0.0042	0.000705	109	154602	rs144664306	0.0007	0.0007	0.0006	0.0008	0.0039	0.0006	0.0006	0.0036	0.0035	5.974e-05	4.472e-05	0	5.038e-05	1.872e-05	0.0005	0.0006	0.0005	0.0039	0.0003	0.0003	0.0002	0.0004	0.0042	0.0002	0.0002	0.0028	0.0023	7.224e-05	0	0	0	0	0	0	0.0004	0.0005	0.0042	0.002	0.78490	D	0.005	0.79402	D	0.998	0.90584	D	0.633	0.73157	P	0.000804	0.41658	D	0.166645	1	0.81001	D	2.19	0.61577	M	0.67	0.52187	T	-2.07	0.47344	N	0.496	0.67132	-0.6015	0.64755	T	0.254	0.62417	T	10	0.0104394555	0.00232	T	0.038711	0.58383	D	0.206	0.49396	.	.	0.780839778774	0.77882	0.6019847696214725	0.60129	0.789902996822	0.65725	0.527711987495	0.42713	T	0.585211	0.86478	D	-0.264842	0.12338	T	-0.153074	0.58971	T	0.122750235119381	0.14697	T	0.978602	0.93484	D	0.10003566	0.23616	0.14089577	0.33571	0.109017305	0.25774	0.120453514	0.29067	-6.676	0.51923	T	0.6952085388865592	0.77347	0.133	0.32054	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.280496	0.65203	24.8	0.99897276261759749	0.96971	0.98691	0.85635	D	AEFBCI	0.959780	0.98027	D	0.472123559484764	0.65468	4.826384	0.421720033540646	0.62922	4.515933	0.999999935087166	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.81	3.94	0.44807	7.630000	0.82398	8.579000	0.77638	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.813000	0.38311	0.0:0.124:0.7468:0.1292	13.034	0.58269	866	0.32446	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	2027.98	39	chr2	215409718	.	G	A	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=839;ExcessHet=0.0000;FS=3.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=2.34;SOR=0.861	GT:AD:DP:GQ:PL	0/1:67,74:141:99:2042,0,1613	20	0	1	0
chr2	217818745	217818745	C	T	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon22:c.G3236A:p.S1079N	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	1.0	D	0.987	D	0.463	N	1.000	D	0.805	L	2.05	T	0.471	D	0.789	D	0.175	3.265	16.96	5.27	2.472	5.479	18.893	0.263	0.159112371055	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943078552	4.113e-06	4.788e-06	2.727e-06	5.514e-06	4.502e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.66e-05	0	6.569e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.016	0.51853	D	0.3	0.20357	T	0.994	0.90584	D	0.977	0.77487	D	0.463201	0.12366	N	0.746360	0.990107	0.41088	D	2.35	0.67516	M	-2.95	0.92108	D	-0.78	0.30555	N	0.414	0.60664	0.471	0.90129	D	0.789	0.92854	D	10	0.3865118	0.54580	T	0.159112	0.83937	D	0.263	0.57612	0.178	0.08503	0.830254759925	0.82864	0.2877801100707768	0.28691	0.555825171214	0.52270	0.689920783043	0.65695	T	0.078659	0.35944	T	0.0376032	0.56730	T	-0.183762	0.56173	T	0.895406723022461	0.54695	D	0.932107	0.74696	D	0.2499397	0.47992	0.18224289	0.41139	0.2499397	0.47992	0.18224289	0.41138	-6.611	0.51138	T	.	.	0.314	0.56619	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.224961	0.63937	24.6	0.99646515939988978	0.77005	0.99105	0.91299	D	AEFDBI	0.750075	0.69131	D	0.477647782449707	0.65786	4.866625	0.492757421453683	0.67508	5.093553	0.999999999454368	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	4.271000	0.58699	7.696000	0.66036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.552000	0.30221	0.0:1.0:0.0:0.0	18.893	0.92383	945	0.12563	.;.;.;.;.;.;.	.	.	.	.	.	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	685.98	40	chr2	217818745	.	C	T	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e-01;DP=785;ExcessHet=0.0000;FS=1.163;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=0.603;SOR=0.452	GT:AD:DP:GQ:PL	0/1:21,27:48:99:700,0,533	20	0	1	0
chr2	217848166	217848166	-	GCTGCT	exonic	TNS1	.	nonframeshift insertion	TNS1:NM_001308022:exon16:c.1975_1976insAGCAGC:p.Q659_P660insQQ	.	.	424	918	155	1	24	181	0.0787757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1844.05	115	chr2	217848163	.	GGCT	G,GGCTGCTGCT	1844.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.920e-01;DP=2103;ExcessHet=0.1072;FS=0.778;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=-3.000e-02;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:53,2,42:97:99:.:.:1597,1693,4088,0,2138,2100	19	0	1	0
chr2	218323409	218323409	C	T	exonic	PNKD	.	stopgain	PNKD:NM_022572:exon1:c.C142T:p.Q48X,	Paroxysmal nonkinesigenic dyskinesia, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	513522	not_provided|Paroxysmal_nonkinesigenic_dyskinesia_1	MedGen:C3661900|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800,Orphanet:98810	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.93	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.261	37	0.794	0.303	1.040	6.264	.	.	.	0.000599042	0.0001	0	0	0	0	5.481e-05	0	0.0004	7.76e-05	12	154602	rs201323830	5.557e-05	5.609e-05	4.612e-05	6.516e-05	0.0009	4.535e-05	4.198e-05	0.0003	0.0002	0	0	0	0	0	0.0009	4.366e-05	0.0001	0.0002	5.918e-05	5.907e-05	7.72e-05	4.035e-05	0.0006	3.079e-05	2.212e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.827e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.498	0.53093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.286546	0.09985	T	-0.341964	0.40123	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.493053	0.32169	18.96	0.99555232532729743	0.71397	0.49231	0.28386	N	ALL	0.115466	0.22701	N	-0.242581033416389	0.31401	1.760311	-0.224802208437203	0.30650	1.727563	0.999999999995264	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.37	0.794	0.17781	0.895000	0.27996	3.218000	0.36838	0.578000	0.29377	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.1918:0.5563:0.2519:0.0	6.264	0.20124	854	0.34840	.	.	.	.	.	.	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	528.98	39	chr2	218323409	.	C	T	528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.810e+00;DP=749;ExcessHet=0.0000;FS=3.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=-7.490e-01;SOR=0.239	GT:AD:DP:GQ:PL	0/1:12,21:33:99:543,0,328	20	0	1	0
chr2	227332589	227332589	G	A	splicing	MFF	NM_001277062:exon4:c.351+1G>A;NM_001277061:exon5:c.429+1G>A;NM_001277063:exon4:c.351+1G>A;NM_001277066:exon3:c.351+1G>A;NM_001277065:exon4:c.351+1G>A;NM_001277064:exon4:c.351+1G>A;NM_020194:exon5:c.429+1G>A;NM_001277068:exon3:c.351+1G>A;NM_001277067:exon4:c.201+1G>A	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	.	423	1090	7	0	2	9	0.00320073	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.020	20.6	4.78	2.362	8.764	18.164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866884233	0.0007	0.0016	0.0006	0.0008	0.0039	0.0007	0.0006	0.0033	0.0031	0.0039	0.0007	0.0022	0.0004	0.0008	0.0017	0.0005	0.0011	0.0017	0.0001	0.0022	0.0001	0.0001	0.0003	6.563e-05	5.32e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	3.069e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	6.971035	0.95980	35	0.99542279205671724	0.70586	0.99758	0.99249	D	AEFBI	.	.	.	1.15380122733624	0.99012	20.26834	0.989360123344271	0.98410	18.20422	0.999999999885004	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.137589	0.03823	0	0.109871	0.03346	0	0.982612	0.88967	4.78	4.78	0.60666	7.139000	0.76905	9.911000	0.82427	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.164	0.89650	926	0.17793	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	105.72	34	chr2	227332589	.	G	A	105.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=933;ExcessHet=0.0000;FS=5.789;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=59.00;MQRankSum=-6.094e+00;QD=1.32;ReadPosRankSum=-2.527e+00;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,8:80:99:0|1:227332589_G_A:119,0,2959:227332589	18	0	1	2
chr2	227332590	227332590	-	CCG	splicing	MFF	NM_001277062:exon4:c.351+2->CCG;NM_001277061:exon5:c.429+2->CCG;NM_001277063:exon4:c.351+2->CCG;NM_001277066:exon3:c.351+2->CCG;NM_001277065:exon4:c.351+2->CCG;NM_001277064:exon4:c.351+2->CCG;NM_020194:exon5:c.429+2->CCG;NM_001277068:exon3:c.351+2->CCG;NM_001277067:exon4:c.201+2->CCG	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	.	421	1091	6	0	4	10	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0016	0.0006	0.0007	0.0033	0.0006	0.0006	0.0028	0.0026	0.0033	0.0007	0.0020	0.0004	0.0007	0.0016	0.0004	0.0009	0.0015	7.93e-05	0.0020	7.757e-05	8.11e-05	0.0002	4.52e-05	3.531e-05	0.0001	8.539e-05	0.0002	0	6.559e-05	0	0	0	0	1.474e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	104.94	34	chr2	227332590	.	T	TCCG	104.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=930;ExcessHet=0.0000;FS=5.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.99;MQRankSum=-6.094e+00;QD=1.31;ReadPosRankSum=-2.674e+00;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,8:80:99:0|1:227332589_G_A:119,0,2959:227332589	20	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,68,0:137:99:.:.:2952,0,2391,2991,2643,5648	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,68,0:137:99:.:.:2952,0,2391,2991,2643,5648	6	4	10	0
chr2	233729915	233729915	G	A	exonic	UGT1A3	.	nonsynonymous SNV	UGT1A3:NM_019093:exon1:c.G789A:p.M263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.121	B	0.156	B	.	.	1.000	N	0.13	N	0.22	T	-0.981	T	0.093	T	0.168	2.177	13.24	1.03	-0.107	-0.838	1.589	0.062	0.0119575968845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.042	0.50226	D	0.121	0.26708	B	0.156	0.34472	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	0.22	0.59851	T	-0.7	0.19933	N	0.119	0.10911	-0.9808	0.34817	T	0.093	0.35283	T	9	0.123094976	0.23361	T	0.011958	0.30096	T	0.062	0.17934	0.621	0.75576	0.384919354899	0.38110	0.3104681372276974	0.30959	0.037394554916	0.03967	.	.	.	0.090966	0.38697	T	-0.165697	0.25888	T	-0.475789	0.24894	T	0.123196175823481	0.14739	T	0.720328	0.33319	T	0.17362446	0.38121	0.18182833	0.41071	0.17362446	0.38121	0.18182833	0.41070	-2.494	0.05740	T	0.10740397345085057	0.08739	0.410	0.60150	A	.	.	1.663939	0.21216	15.10	0.98313176817799752	0.40164	0.15874	0.19123	N	AEFBI	0.752516	0.69299	D	-0.729031270161134	0.15209	0.7644923	-0.680850657869737	0.17440	0.9273428	0.00268472058520643	0.09631	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	1.03	0.19161	-0.096000	0.11027	-1.395000	0.05540	0.520000	0.23804	0.826000	0.30074	0.000000	0.08366	0.870000	0.41412	0.1652:0.1269:0.3223:0.3857	1.589	0.02491	509	0.75304	.	.	.	.	.	.	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	2581.98	105	chr2	233729915	.	G	A	2581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=2121;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.51;MQRankSum=2.35;QD=13.52;ReadPosRankSum=0.037;SOR=0.663	GT:AD:DP:GQ:PL	0/1:101,90:191:99:2596,0,2805	20	0	1	0
chr2	240130020	240130020	C	G	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.G272C:p.G91A,	.	.	427	1078	16	1	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.337	B	0.038	B	.	.	1.000	N	.	.	.	.	-1.038	T	0.037	T	0.069	1.821	12.05	0.499	0.150	-0.270	3.479	0.011	.	0.0037	0.0115815	0.0101	0.0018	0.0033	0.0002	0.0008	0.0042	0.0144	0.0515	0.0086286	1334	154602	rs115716357	0.0059	0.0059	0.0047	0.0071	0.0470	0.0058	0.0057	0.0458	0.0453	0.0010	0.0030	0.0193	0.0001	0.0005	0.0118	0.0030	0.0078	0.0470	0.0041	0.0042	0.0038	0.0045	0.0462	0.0039	0.0038	0.0413	0.0393	0.0008	0.0055	0.0044	0.0181	0	0.0003	0.0102	0.0032	0.0062	0.0462	0.0	0.91255	D	0.0	0.92824	D	0.337	0.33382	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.78	0.42001	N	0.215	0.24010	-1.0377	0.18016	T	0.037	0.15899	T	7	0.0024957657	0.00038	T	.	.	.	0.011	0.01250	.	.	0.0297737177859	0.01360	0.047931641576438616	0.04736	0.202601885681	0.22681	0.344620317221	0.17126	T	.	.	.	-0.624069	0.00104	T	-0.633438	0.10156	T	0.0118260331577385	0.00183	T	0.306369	0.05889	T	.	.	.	.	.	.	.	.	-3.158	0.11975	T	.	.	0.145	0.31931	B	.	.	0.147951	0.05405	1.883	0.98719788304269318	0.45186	0.05368	0.11229	N	AEFDBCI	0.027371	0.02223	N	-0.863289464914987	0.11724	0.5673902	-1.02932197752064	0.09144	0.4532831	0.928712867865185	0.26940	0.498214	0.20090	0	0.572659	0.20510	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	1.48	0.499	0.16119	-0.052000	0.11821	-1.597000	0.05092	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7043:0.0:0.2957	3.479	0.07160	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	0	0	0.02381	1840.98	33	chr2	240130020	.	C	G	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.40;DP=882;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.013;SOR=0.777	GT:AD:DP:GQ:PL	0/1:85,69:154:99:1855,0,2164	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	0/1:33,51,0:84:99:.:.:1961,0,1161,2060,1315,3375	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	0/2:27,4,17:56:99:291,286,1213,0,610,542	0	0	1	0
chr3	10074669	10074669	C	A	exonic	FANCD2	.	nonsynonymous SNV	FANCD2:NM_001374253:exon28:c.C2744A:p.T915N	Fanconi anemia, complementation group D2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.993	D	0.000	D	1.000	D	2.43	M	0.58	T	-0.306	T	0.367	T	0.441	4.733	26.4	5.8	2.749	5.048	17.616	0.270	0.036632438589	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481456752	6.843e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.70582	D	0.999	0.77913	D	0.993	0.81110	D	0.000006	0.62929	D	0.141980	0.999197	0.46300	D	2.695	0.78878	M	0.58	0.54149	T	-2.37	0.52289	N	0.652	0.66272	-0.3065	0.74804	T	0.367	0.72720	T	10	0.74863136	0.75472	D	0.036632	0.57117	D	0.270	0.58507	0.51	0.60693	0.879419312157	0.87824	0.40073875540640486	0.39988	0.649232544592	0.58242	0.665853738785	0.62247	T	0.106323	0.41757	T	-0.0115303	0.50052	T	-0.254339	0.49387	T	0.946915507316589	0.62570	D	0.880612	0.59878	D	0.32418346	0.54991	0.34347343	0.60059	0.32418346	0.54991	0.34347343	0.60058	-4.12	0.25951	T	0.4946702601398571	0.57093	0.393	0.59165	A	.;.;.	.;.;.	4.282624	0.65252	24.8	0.99323261278497721	0.59469	0.97658	0.76213	D	AEFGBI	0.616213	0.60285	D	0.828305252077832	0.87841	9.359677	0.806702525481897	0.90255	10.32498	0.9999999967267	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	5.061000	0.64149	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.616	0.87969	344	0.85734	.;.;.	.	.	.	.	.	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	808.98	33	chr3	10074669	.	C	A	808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=758;ExcessHet=0.0000;FS=2.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.144;SOR=0.469	GT:AD:DP:GQ:PL	0/1:35,32:67:99:823,0,983	20	0	1	0
chr3	10238797	10238797	C	T	exonic	IRAK2	.	nonsynonymous SNV	IRAK2:NM_001570:exon12:c.C1523T:p.T508M,	.	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.654	P	0.038	B	0.508	N	1.000	N	0	N	0.65	T	-1.054	T	0.039	T	0.146	1.159	9.717	-1.14	0.091	-1.005	2.752	0.038	0.0147820822306	0.0035	0.00119808	0.0041	0.0008	0.0013	0	0.0020	0.0065	0.0022	0.0015	0.0042173	652	154602	rs144752184	0.0056	0.0056	0.0057	0.0055	0.0066	0.0055	0.0054	0.0065	0.0065	0.0011	0.0013	0.0067	0	0.0012	0.0031	0.0066	0.0043	0.0018	0.0034	0.0034	0.0038	0.0030	0.0059	0.0032	0.0031	0.0054	0.0053	0.0011	0	0.0020	0.0066	0	0.0008	0.0034	0.0059	0.0043	0.0006	0.125	0.27310	T	0.045	0.49390	D	0.654	0.40793	P	0.038	0.23361	B	0.508142	0.11873	N	0.734666	1	0.08975	N	1.3	0.32576	L	0.65	0.52642	T	-0.89	0.24026	N	0.105	0.08925	-1.0535	0.13440	T	0.039	0.16806	T	10	0.003986776	0.00077	T	0.014782	0.35118	T	0.038	0.09825	.	.	0.433269665224	0.42948	0.22949769077654394	0.22864	0.175596667541	0.19770	0.327096730471	0.14495	T	0.075026	0.35081	T	-0.584223	0.00182	T	-0.605292	0.12371	T	0.00565192157684829	0.00062	T	0.588541	0.21576	T	0.016661977	0.00213	0.029084744	0.01208	0.016661977	0.00213	0.029084744	0.01208	-4.998	0.36819	T	.	.	0.070	0.03625	B	.	.	0.075091	0.04825	1.427	0.95729438461231364	0.27667	0.01461	0.04883	N	AEFDBI	0.026674	0.02044	N	-1.11451116120667	0.06384	0.2937227	-1.17989604390308	0.06246	0.3000584	0.98921818078031	0.31756	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.84	-1.14	0.09241	-0.951000	0.03995	-5.041000	0.01874	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2753:0.2642:0.3669:0.0936	2.752	0.04960	721	0.55360	.	.	.	.	.	.	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	1538.98	34	chr3	10238797	.	C	T	1538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=837;ExcessHet=0.0000;FS=0.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.898e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1553,0,1679	20	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.003	N	0.870	D	0.69	N	-3.18	D	0.217	D	0.665	D	0.329	3.392	17.45	5.31	2.493	4.693	18.577	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	6188.68	230	chr3	15003967	.	C	G	6188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.434e+00;DP=4026;ExcessHet=9.6308;FS=254.962;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=2.28;SOR=13.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,69:188:99:.:.:872,0,3162	8	0	12	1
chr3	28340578	28340578	G	T	exonic	AZI2	.	nonsynonymous SNV	AZI2:NM_001134432:exon2:c.C40A:p.H14N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.998	D	0.995	D	0.000	D	1.000	D	1.845	L	.	.	-0.391	T	0.413	T	0.555	4.764	26.7	5.87	2.774	9.047	20.208	0.118	0.0115282889237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.0	0.92824	D	0.989	0.73220	D	0.783	0.83170	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.455	0.71248	M	.	.	.	-1.92	0.51319	N	0.797	0.79310	-0.3913	0.72301	T	0.413	0.76054	T	9	0.5455343	0.63962	D	0.011528	0.29247	T	0.118	0.32913	0.377	0.39156	0.63749958327	0.63451	0.6134447490811484	0.61276	0.462371291275	0.45773	0.76071190834	0.76034	T	0.320973	0.69211	T	0.100219	0.64316	D	-0.093819	0.63872	T	0.949539840221405	0.63135	D	0.849815	0.68653	T	0.31944692	0.54593	0.31610775	0.57594	0.31944692	0.54593	0.31610775	0.57593	-3.105	0.12665	T	.	.	0.828	0.81678	P	.;.;.;.;.;.	.;.;.;.;.;.	4.783085	0.77540	26.7	0.99210963071401848	0.55594	0.99131	0.91682	D	AEFBI	0.911322	0.87043	D	0.726410356527559	0.81363	7.504868	0.77578035571778	0.88066	9.444034	0.999999999999983	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	9.169000	0.93936	11.897000	0.99249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	20.208	0.98287	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	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	2815.08	40	chr3	28340578	.	G	T	2815.08	.	AC=2;AF=0.048;AN=42;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.95;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2843,282,0	20	1	0	0
chr3	36829633	36829633	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon22:c.A8608G:p.I2870V	.	.	437	1001	81	3	0	87	0.0416467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	0.521	N	1.000	N	0.55	N	2.0	T	-0.996	T	0.035	T	0.039	1.045	9.269	-2.89	-0.425	-0.071	10.658	0.031	.	0.0041	0.0091853	0.0086	0.0012	0.0027	0	0.0002	0.0061	0.0067	0.0353	0.0079883	1235	154602	rs147602680	0.0067	0.0067	0.0057	0.0077	0.0356	0.0066	0.0065	0.0345	0.0341	0.0009	0.0033	0.0053	2.519e-05	0.0004	0.0210	0.0053	0.0063	0.0356	0.0043	0.0043	0.0039	0.0048	0.0332	0.0041	0.0039	0.0290	0.0274	0.0010	0	0.0038	0.0049	0.0002	0.0008	0.0170	0.0052	0.0071	0.0332	0.196	0.20683	T	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.520809	0.05201	N	1.404800	1	0.08975	N	0.69	0.16971	N	2.0	0.21473	T	0.02	0.06739	N	0.057	0.02861	-0.9958	0.31082	T	0.035	0.15074	T	10	0.0029999614	0.00049	T	.	.	.	0.031	0.07369	.	.	0.0986583533028	0.09354	0.07676767821433089	0.07612	0.145140460238	0.16409	0.310466110706	0.11977	T	0.027208	0.19973	T	-0.694287	0.00039	T	-0.744309	0.03712	T	0.00112084309542654	0.00011	T	0.558444	0.19458	T	0.047605358	0.08164	0.053054407	0.08861	0.047605358	0.08164	0.053054407	0.08861	-2.739	0.07636	T	.	.	0.071	0.04599	B	.;.	.;.	0.094974	0.04978	1.540	0.89386594739393521	0.18753	0.01778	0.05572	N	AEFDGBI	0.046980	0.07860	N	-1.01800290355481	0.08230	0.3851583	-1.02789908835854	0.09174	0.4549581	0.82360940086271	0.24567	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	-2.89	0.05326	-0.033000	0.12196	-3.041000	0.03115	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.0:0.4816:0.0:0.5184	10.658	0.44877	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5318.66	34	chr3	36829633	.	T	C	5318.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.400e-01;DP=931;ExcessHet=0.0000;FS=1.081;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.70;ReadPosRankSum=1.15;SOR=0.811	GT:AD:DP:GQ:PL	1/1:0,128:128:99:3613,384,0	19	1	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	0/4:38,0,0,0,21,0,0:59:99:765,882,2480,882,2480,2480,882,2480,2480,2480,0,1598,1598,1598,1535,882,2480,2480,2480,1598,2480,882,2480,2480,2480,1598,2480,2480	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	0/4:38,0,0,0,21,0,0:59:99:765,882,2480,882,2480,2480,882,2480,2480,2480,0,1598,1598,1598,1535,882,2480,2480,2480,1598,2480,882,2480,2480,2480,1598,2480,2480	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	0/4:38,0,0,0,21,0,0:59:99:765,882,2480,882,2480,2480,882,2480,2480,2480,0,1598,1598,1598,1535,882,2480,2480,2480,1598,2480,882,2480,2480,2480,1598,2480,2480	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	0/4:38,0,0,0,21,0,0:59:99:765,882,2480,882,2480,2480,882,2480,2480,2480,0,1598,1598,1598,1535,882,2480,2480,2480,1598,2480,882,2480,2480,2480,1598,2480,2480	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	0/4:38,0,0,0,21,0,0:59:99:765,882,2480,882,2480,2480,882,2480,2480,2480,0,1598,1598,1598,1535,882,2480,2480,2480,1598,2480,882,2480,2480,2480,1598,2480,2480	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	1/2:0,41,32,0,0:73:99:3022,1342,1245,1691,0,1608,3031,1358,1701,3050,3031,1358,1701,3050,3050	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	1/2:0,41,32,0,0:73:99:3022,1342,1245,1691,0,1608,3031,1358,1701,3050,3031,1358,1701,3050,3050	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	1/2:0,41,32,0,0:73:99:3022,1342,1245,1691,0,1608,3031,1358,1701,3050,3031,1358,1701,3050,3050	1	3	1	0
chr3	42874438	42874438	T	C	exonic	CYP8B1	.	nonsynonymous SNV	CYP8B1:NM_004391:exon1:c.A1379G:p.H460R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.02	B	0.068	B	0.197	U	1.000	N	0.31	N	-0.16	T	-0.884	T	0.148	T	0.167	2.795	15.31	5.15	1.950	5.106	13.945	0.175	0.026705065501	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs759681635	2.257e-05	2.257e-05	2.859e-05	1.65e-05	2.788e-05	1.61e-05	1.416e-05	1.998e-05	1.74e-05	0	0	0	0	0	0	2.788e-05	3.311e-05	0	6.581e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.169	0.22920	T	0.118	0.36233	T	0.02	0.18235	B	0.068	0.27651	B	0.196867	0.16701	U	0.518222	1	0.81001	D	0.895	0.22405	L	-0.16	0.65378	T	-3.35	0.66436	D	0.095	0.07535	-0.8841	0.49431	T	0.148	0.47362	T	10	0.27766472	0.45333	T	0.026705	0.49594	D	0.175	0.44197	0.555	0.67271	0.267299060538	0.26338	0.8353115516146772	0.83491	0.280962310309	0.30564	0.328825294971	0.14757	T	0.493171	0.81683	T	-0.212774	0.18989	T	-0.387046	0.34899	T	0.147718787193298	0.16921	T	0.554445	0.19192	T	0.21079896	0.43386	0.2953212	0.55564	0.21079896	0.43386	0.2953212	0.55563	-5.495	0.41821	T	.	.	0.121	0.24967	B	.	.	2.941138	0.39102	20.9	0.98961480721047101	0.49344	0.97829	0.77440	D	AEFDBI	0.883572	0.81260	D	-0.18021334742388	0.33958	1.93269	0.0174844776886158	0.40527	2.420067	0.999999995121134	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	5.088000	0.64319	3.402000	0.38135	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.0:0.0:0.0:1.0	13.945	0.63589	657	0.62240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1173.98	33	chr3	42874438	.	T	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.380e-01;DP=1287;ExcessHet=0.0000;FS=4.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=1.38;SOR=0.912	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1188,0,1466	20	0	1	0
chr3	45780053	45780053	C	T	exonic	SLC6A20	.	nonsynonymous SNV	SLC6A20:NM_001385683:exon3:c.G310A:p.V104I	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	2	1506	14	0	0	14	0.00462657	.	.	889029	Hyperglycinuria	Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.012	B	0.026	B	0.001	N	0.842	N	1.11	L	-1.08	T	-0.745	T	0.284	T	0.258	2.837	15.45	2.77	0.454	1.190	10.523	0.121	0.015362353042	0.0012	0.000399361	0.0014	0.0002	0.0006	0	0	0.0022	0	0.0009	0.0007891	122	154602	rs139008024	0.0013	0.0013	0.0013	0.0013	0.0023	0.0013	0.0012	0.0014	0.0014	0.0003	0.0003	0.0010	2.538e-05	7.593e-05	0.0023	0.0015	0.0017	0.0008	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0005	0.0010	0.0010	4.809e-05	0	0.0005	0.0012	0.0002	0	0	0.0012	0	0.0008	0.112	0.33254	T	0.171	0.33330	T	0.009	0.16265	B	0.015	0.20792	B	0.001416	0.39109	N	0.213831	0.841699	0.28622	N	1.39	0.34934	L	-1.08	0.77078	T	-0.76	0.22944	N	0.225	0.25253	-0.7446	0.58216	T	0.284	0.65577	T	10	0.027176023	0.00868	T	0.015362	0.36047	T	0.121	0.33580	.	.	0.813001838469	0.81124	0.37635393023808766	0.37549	0.201776064009	0.22587	0.268589198589	0.05957	T	0.021199	0.18811	T	-0.380556	0.03091	T	-0.344046	0.39885	T	0.0109754176623549	0.00158	T	0.845215	0.54691	T	0.113741964	0.26860	0.09941521	0.23736	0.113741964	0.26859	0.09941521	0.23735	-5.459	0.41980	T	.	.	0.092	0.19679	B	.;.;.;.	.;.;.;.	2.012610	0.25571	16.81	0.99603025257584255	0.74338	0.76868	0.37735	D	AEFDBI	0.219076	0.34400	N	-0.368754981991334	0.26589	1.452247	-0.239883327491225	0.30121	1.693288	0.992771257378965	0.32963	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.57	2.77	0.31614	0.915000	0.28260	0.918000	0.22682	-0.182000	0.10109	0.960000	0.33603	0.450000	0.24948	0.991000	0.66497	0.0:0.8406:0.0:0.1594	10.523	0.44119	423	0.81269	.;.;.;.	.	.	.	.	.	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	1150.98	38	chr3	45780053	.	C	T	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.169e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=-8.980e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1165,0,985	20	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	1/1:0,59,0:59:99:2655,178,0,2655,178,2655	2	7	11	0
chr3	46895855	46895855	G	A	exonic	PTH1R	.	nonsynonymous SNV	PTH1R:NM_001184744:exon4:c.G299A:p.G100D	Chondrodysplasia, Blomstrand type, Autosomal recessive;Eiken syndrome, Autosomal recessive;Failure of tooth eruption, primary, Autosomal dominant;Metaphyseal chondrodysplasia, Murk Jansen type, Autosomal dominant	.	2	1511	9	0	0	9	0.00296932	.	.	291687	Connective_tissue_disorder|Chondrodysplasia_Blomstrand_type|Metaphyseal_chondrodysplasia,_Jansen_type|not_specified|not_provided	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0008970,MedGen:C1859148,OMIM:215045,Orphanet:50945|MONDO:MONDO:0007982,MedGen:C0265295,OMIM:156400,Orphanet:33067|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.004	B	0.006	B	.	.	0.999	D	0.69	N	0.77	T	-1.080	T	0.058	T	0.583	2.396	13.97	4.65	2.433	2.322	12.887	0.184	0.00950995395484	0.0032	0.00139776	0.0023	0.0004	0.0006	0	0.0016	0.0038	0.0034	0.0001	0.0022121	342	154602	rs41290646	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0014	0.0003	0	0.0009	0.0023	0.0025	0.0018	0.0001	0.0022	0.0022	0.0023	0.0020	0.0037	0.0020	0.0019	0.0033	0.0032	0.0003	0	0.0032	0	0	0.0006	0	0.0037	0.0043	0	0.106	0.29688	T	0.144	0.35582	T	0.004	0.12183	B	0.006	0.12133	B	.	.	.	.	0.998954	0.45755	D	0.695	0.17993	N	0.75	0.50192	T	-2.3	0.51157	N	0.231	0.25989	-1.0804	0.07272	T	0.058	0.24354	T	9	0.008233696	0.00187	T	0.00951	0.24901	T	0.184	0.45763	.	.	0.706663200243	0.70410	0.638800735141887	0.63814	0.536434872759	0.50975	0.368400454521	0.20602	T	0.398897	0.75689	T	-0.400103	0.02311	T	-0.348652	0.39359	T	0.0130964946291164	0.00230	T	0.594141	0.21965	T	0.19282031	0.40967	0.30067676	0.56102	0.21036784	0.43331	0.32387984	0.58315	-4.535	0.31344	T	.	.	0.081	0.08033	B	.;.;.;.;.	.;.;.;.;.	2.433009	0.31299	18.70	0.98406969595001181	0.41126	0.76333	0.37429	D	AEFBCI	0.507579	0.53782	D	-0.29853382620254	0.29205	1.617534	-0.108034007426992	0.35065	2.024306	0.99999429640905	0.74766	0.580535	0.33130	0	0.615948	0.52940	0	0.576033	0.28219	0	0.691587	0.68394	0	.	.	4.65	4.65	0.57626	2.665000	0.46456	4.092000	0.41811	0.676000	0.76740	0.927000	0.32177	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	12.887	0.57440	112	0.95438	GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor 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	1	0	0.02381	1202.98	40	chr3	46895855	.	G	A	1202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.179e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1217,0,1412	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	0/1:34,34,0:68:99:1327,0,1324,1429,1428,2857	0	4	6	0
chr3	52897437	52897437	G	A	exonic	STIMATE;STIMATE-MUSTN1	.	nonsynonymous SNV	STIMATE-MUSTN1:NM_001198974:exon1:c.C14T:p.A5V	.	.	402	1107	12	1	0	14	0.00628366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.019	B	0.007	B	0.717	U	1.000	N	1.1	L	.	.	-1.015	T	0.078	T	0.206	2.828	15.42	1.59	0.191	0.397	8.140	0.050	0.110924970811	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1471661472	3.998e-05	3.899e-05	2.766e-05	5.281e-05	0.0014	3.09e-05	2.793e-05	0.0007	0.0005	0	9.919e-05	0	0	3.275e-05	0.0014	3.201e-05	0.0001	3.135e-05	3.949e-05	3.94e-05	6.431e-05	1.348e-05	8.83e-05	1.718e-05	1.131e-05	3.765e-05	2.577e-05	0	0	0	0	0	0	0	8.83e-05	0	0	0.033	0.44358	D	0.148	0.32675	T	0.005	0.17989	B	0.004	0.12992	B	0.717024	0.09966	U	0.855532	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.1	0.13341	-1.0154	0.25207	T	0.078	0.31103	T	9	0.07762456	0.12273	T	0.110925	0.78850	D	0.050	0.13987	0.129	0.03412	0.128874641272	0.12493	0.6944985929170117	0.71643	1.6529612223	0.89812	0.843341231346	0.88604	D	0.01019	0.09221	T	-0.222267	0.17684	T	-0.302002	0.44514	T	0.11052779853344	0.13478	T	0.713629	0.32527	T	0.046445187	0.07774	0.10611412	0.25522	0.046445187	0.07774	0.10611412	0.25521	-4.539	0.31395	T	.	.	0.113	0.22354	B	.;.	.;.	1.606961	0.20540	14.80	0.99781930766642957	0.86867	0.18644	0.20344	N	ALL	0.051739	0.09171	N	-0.890029274780518	0.11079	0.532735	-0.91569996026726	0.11723	0.5990192	0.999999999775655	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.65	1.59	0.22622	0.725000	0.25638	2.635000	0.33717	0.668000	0.69082	0.035000	0.20724	0.668000	0.26052	0.006000	0.07323	0.0907:0.2993:0.6101:0.0	8.140	0.30236	139	0.94486	.;.	.	.	.	.	.	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	784.98	34	chr3	52897437	.	G	A	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.060e-01;DP=780;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.588;SOR=0.967	GT:AD:DP:GQ:PL	0/1:27,34:61:99:799,0,605	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	0/2:44,0,33:81:99:1267,1410,3276,0,1849,1947	13	1	6	0
chr3	53886895	53886895	T	G	exonic	SELENOK	.	unknown	UNKNOWN,	.	.	439	1070	9	4	0	17	0.00788132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.002	B	0.000	D	0.990	D	.	.	0.94	T	-1.099	T	0.032	T	0.511	1.979	12.58	4.15	0.850	1.527	11.530	0.250	.	0.0036	0.00978435	0.0070	0.0207	0.0856	0.0013	0.0046	0.0022	0	0.0018	0.0032794	507	154602	rs11562	0.0017	0.0018	0.0019	0.0016	0.0199	0.0017	0.0017	0.0187	0.0182	0.0130	0.0199	0	0.0008	0.0026	0.0019	0.0007	0.0021	0.0018	0.0066	0.0067	0.0057	0.0076	0.0249	0.0063	0.0062	0.0228	0.0220	0.0127	0	0.0249	0	0.0012	0.0024	0	0.0008	0.0061	0.0014	0.379	0.12109	T	0.491	0.11515	T	0.0	0.02946	B	0.002	0.06944	B	0.000003	0.62929	D	0.106439	0.990094	0.41086	D	.	.	.	0.94	0.43672	T	-0.11	0.08653	N	0.188	0.37301	-1.0989	0.04227	T	0.032	0.13592	T	9	0.0026183426	0.00040	T	.	.	.	0.250	0.55888	0.207	0.12356	0.144782658237	0.14088	.	.	0.366090419773	0.38189	0.495579183102	0.38213	T	0.005959	0.05402	T	-0.433535	0.01412	T	-0.379924	0.35731	T	0.018607332201682	0.00574	T	0.563744	0.19863	T	0.13985957	0.32291	0.108434	0.26120	0.13985957	0.32291	0.108434	0.26120	.	.	.	.	.	0.128	0.27222	B	.;.	.;.	2.653826	0.34557	19.66	0.97953524397406766	0.37122	0.88904	0.49062	D	AEFGBI	0.228308	0.35199	N	-0.3540956097411	0.27123	1.485536	-0.188308152228182	0.31964	1.813994	0.999998399160924	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.15	0.47978	1.578000	0.36135	2.770000	0.34664	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1498:0.8502	11.530	0.49859	649	0.63102	.;.	.	.	.	.	.	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	712.98	33	chr3	53886895	.	T	G	712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=758;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.235;SOR=0.502	GT:AD:DP:GQ:PL	0/1:32,26:58:99:727,0,784	20	0	1	0
chr3	56668539	56668539	T	C	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon6:c.A755G:p.Y252C	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	.	.	1.000	D	1.59	L	0.85	T	-0.530	T	0.230	T	0.859	3.222	16.79	5.44	2.056	3.339	10.712	0.279	0.0546928899671	.	.	0.0004	0	0	0	0	0	0	0.0009	5.17e-05	8	154602	rs756294047	6.385e-05	6.225e-05	3.822e-05	9.02e-05	0.0009	5.273e-05	4.899e-05	0.0007	0.0006	0	0	0	0	0	0.0009	1.299e-05	8.662e-05	0.0008	3.942e-05	3.94e-05	1.285e-05	6.724e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.008	0.58626	D	0.008	0.67890	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	0.890086	0.35933	D	.	.	.	0.85	0.47130	T	-3.48	0.67941	D	0.666	0.67477	-0.5303	0.67530	T	0.230	0.59521	T	9	0.33972576	0.51054	T	0.054693	0.65953	D	0.279	0.59619	0.424	0.46857	0.278043722374	0.27408	0.5484433043619228	0.54770	0.969771528771	0.73320	0.609489917755	0.54243	T	.	.	.	-0.100007	0.36423	T	0.0107663	0.71032	D	0.452827662229538	0.30901	T	0.934107	0.75346	D	.	.	.	.	.	.	.	.	-4.296	0.28121	T	.	.	0.092	0.27880	B	.;.	.;.	4.638214	0.73819	26.1	0.996668494608134	0.78330	0.93693	0.58922	D	AEBHCI	0.409482	0.48074	N	0.584800994546409	0.72227	5.772416	0.575911288078855	0.73218	5.934474	0.984325430006581	0.30699	0.706548	0.73137	0	0.724815	0.89359	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	3.205000	0.50792	7.694000	0.65937	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1422:0.0:0.0:0.8578	10.712	0.45187	241	0.90582	.;.	.	.	.	.	.	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	654.98	34	chr3	56668539	.	T	C	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.452;DP=730;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=0.466;SOR=0.811	GT:AD:DP:GQ:PL	0/1:24,26:50:99:669,0,601	20	0	1	0
chr3	57114776	57114776	C	T	exonic	IL17RD	.	nonsynonymous SNV	IL17RD:NM_017563:exon3:c.G226A:p.A76T,	Hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal dominant	.	422	1087	13	0	0	13	0.00594422	.	.	2124569	not_provided|IL17RD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.867	P	0.359	B	0.000	D	1.000	N	0.345	N	2.87	T	-1.098	T	0.021	T	0.248	2.340	13.78	4.88	2.735	3.707	15.688	0.062	0.0136662428832	.	0.00159744	0.0012	0	8.717e-05	0	0	9.059e-05	0	0.0093	0.0010155	157	154602	rs541423556	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0005	0.0067	0.0065	0	0.0001	0	0	0	0.0030	5.402e-05	0.0006	0.0071	0.0002	0.0002	8.994e-05	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0068	0.159	0.23813	T	0.113	0.36901	T	0.791	0.44643	P	0.196	0.36635	B	0.000194	0.48115	D	0.211944	1	0.81001	D	0.55	0.14455	N	2.87	0.10386	T	-0.16	0.09460	N	0.341	0.38232	-1.0984	0.04290	T	0.021	0.08686	T	10	0.0066627264	0.00151	T	0.013666	0.33248	T	0.062	0.17934	.	.	0.386395597597	0.38251	0.3548117082326522	0.35395	0.427416486796	0.43086	0.478272438049	0.35819	T	0.324925	0.69569	T	-0.518681	0.00448	T	-0.51298	0.21008	T	0.0336415061716869	0.02578	T	0.919408	0.70943	D	0.053298954	0.10065	0.072218716	0.15554	0.05838379	0.11737	0.08061505	0.18250	-2.75	0.07733	T	0.22867157832615456	0.30927	0.124	0.26138	B	.	.	3.024070	0.40482	21.2	0.99356752614982946	0.60820	0.90274	0.51321	D	AEFBI	0.295255	0.40542	N	0.112147427159505	0.47030	2.934407	0.196221277179984	0.49640	3.16473	0.999998661467261	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.530356	0.10902	0	.	.	5.8	4.88	0.63131	3.543000	0.53387	3.153000	0.36534	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.177000	0.21203	0.1375:0.8625:0.0:0.0	15.688	0.77184	524	0.74079	Interleukin 17 receptor D, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	33	chr3	57114776	.	C	T	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.494;DP=768;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.351;SOR=0.547	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1119,0,909	20	0	1	0
chr3	57429707	57429707	T	G	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon33:c.A5048C:p.D1683A,	.	.	434	1065	21	2	0	25	0.0116009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	4.38	H	-2.69	D	0.921	D	0.884	D	0.882	3.611	18.38	5.6	2.118	7.673	14.954	0.902	.	0.0050	0.00399361	0.0096	0	0	0	0.0294	0.0058	0	0.0177	0.0018176	281	154602	rs145799134	0.0055	0.0053	0.0054	0.0057	0.0134	0.0054	0.0054	0.0128	0.0125	0.0005	0.0017	0.0038	0.0002	0.0159	0.0078	0.0050	0.0056	0.0134	0.0049	0.0049	0.0045	0.0052	0.0129	0.0046	0.0044	0.0103	0.0094	0.0008	0.0219	0.0036	0.0029	0.0004	0.0139	0.0170	0.0058	0.0057	0.0129	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.961138	0.38218	D	4.165	0.97651	H	-2.69	0.90451	D	-7.38	0.94702	D	0.74	0.74007	0.921	0.95972	D	0.884	0.96165	D	9	0.0107755065	0.00238	T	.	.	.	0.902	0.97286	.	.	0.943114919463	0.94252	.	.	.	.	0.709984064102	0.68591	T	0.396212	0.75490	T	0.108633	0.65208	D	0.394298	0.91927	D	0.154586672477553	0.17462	T	0.953705	0.82322	D	0.9084812	0.92154	0.876909	0.93346	0.9084812	0.92155	0.876909	0.93346	-14.845	0.95479	D	.	.	0.937	0.86658	P	.;.	.;.	5.095529	0.85110	28.5	0.98651836581941021	0.44206	0.99180	0.92409	D	AEFBI	0.881935	0.80967	D	1.03642554495874	0.96759	15.10574	0.932269146032082	0.96831	15.20575	0.998832019403816	0.37777	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	7.712000	0.83637	7.741000	0.68005	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.954	0.70744	288	0.88579	ATPase, dynein-related, AAA domain;ATPase, dynein-related, AAA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	884.98	34	chr3	57429707	.	T	G	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=742;ExcessHet=0.0000;FS=1.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.421;SOR=0.526	GT:AD:DP:GQ:PL	0/1:21,37:58:99:899,0,454	20	0	1	0
chr3	62481846	62481846	T	A	exonic	CADPS	.	nonsynonymous SNV	CADPS:NM_003716:exon22:c.A3050T:p.N1017I,	.	.	420	1093	8	1	0	10	0.00455373	.	.	3221763	CADPS-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.856	P	0.282	B	0.000	D	1.000	D	0.6	N	1.44	T	-1.122	T	0.046	T	0.535	2.234	13.43	4.1	0.929	5.862	11.517	0.126	0.0164449506937	0.0020	0.00139776	0.0024	0.0008	0.0014	0	0.0002	0.0027	0.0011	0.0050	0.0023092	357	154602	rs77008736	0.0035	0.0035	0.0034	0.0035	0.0049	0.0034	0.0034	0.0041	0.0039	0.0007	0.0025	0.0018	0	0.0002	0.0049	0.0039	0.0030	0.0044	0.0026	0.0026	0.0025	0.0026	0.0048	0.0023	0.0023	0.0040	0.0036	0.0008	0	0.0048	0.0029	0	0.0002	0	0.0036	0.0038	0.0033	0.003	0.68238	D	0.062	0.45318	T	0.856	0.47190	P	0.282	0.40384	B	0.000007	0.62929	D	0.107269	0.999566	0.81001	D	1.59	0.40313	L	1.44	0.32722	T	-0.97	0.25770	N	0.84	0.83576	-1.1217	0.02227	T	0.046	0.19720	T	10	0.018475682	0.00402	T	0.016445	0.37712	T	0.126	0.34673	.	.	0.590373781641	0.58713	0.30313581878288126	0.30226	1.33314862039	0.83684	0.681597173214	0.64497	T	0.141672	0.47685	T	-0.382895	0.02987	T	-0.322238	0.42329	T	0.021934881690377	0.00901	T	0.967303	0.88169	D	0.30757862	0.53576	0.30972397	0.56985	0.30757862	0.53576	0.30972397	0.56984	-9.097	0.68318	D	.	.	0.284	0.51652	B	.	.	4.399969	0.67970	25.2	0.98614384870472149	0.43691	0.94962	0.62939	D	AEFGI	0.817108	0.73867	D	0.143983525474718	0.48528	3.063921	0.233643928090761	0.51722	3.352478	0.916540553373837	0.26515	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.28	4.1	0.47196	5.820000	0.68932	6.220000	0.55115	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0715:0.0:0.9285	11.517	0.49775	714	0.56256	Munc13 homology 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	0.02381	2730.98	34	chr3	62481846	.	T	A	2730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.530e-01;DP=901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=2.61;SOR=0.655	GT:AD:DP:GQ:PL	0/1:91,109:200:99:2745,0,2292	20	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S,	.	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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|1:62,50:112:99:0|1:75730450_C_T:1902,0,2442:75730450	0	0	20	1
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I,	.	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,4:47:6:.:.:6,0,1728	10	0	10	1
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	0/1:100,20:120:99:.:.:490,0,3240	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|1:110,23:133:99:0|1:75736920_C_A:635,0,4506:75736920	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|1:110,24:134:99:0|1:75736920_C_A:677,0,4491:75736920	0	0	21	0
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	0/1:96,34:130:99:598,0,3470	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	0/1:106,45:151:99:775,0,3791	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|1:119,41:160:99:0|1:75737092_C_T:1363,0,4869:75737092	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|1:119,41:160:99:0|1:75737092_C_T:1363,0,4873:75737092	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|1:115,39:154:99:0|1:75737092_C_T:1291,0,4711:75737092	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|1:111,31:142:99:0|1:75737092_C_T:968,0,4568:75737092	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|1:97,19:116:99:0|1:75737092_C_T:506,0,4006:75737092	0	0	21	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|1:74,60:134:99:0|1:75737519_G_A:2267,0,2741:75737519	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|1:100,66:166:99:0|1:75737590_A_G:2425,0,3994:75737590	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|1:104,73:177:99:0|1:75737590_A_G:2752,0,4147:75737590	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|1:106,75:181:99:0|1:75737590_A_G:2830,0,4225:75737590	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|1:108,75:183:99:0|1:75737590_A_G:2824,0,4309:75737590	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|1:95,71:166:99:0|1:75737590_A_G:2695,0,3775:75737590	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|1:126,50:176:99:0|1:75737814_C_T:1700,0,4911:75737814	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|1:136,27:163:99:0|1:75737881_T_C:553,0,5433:75737881	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|1:142,23:165:99:0|1:75737881_T_C:455,0,5753:75737881	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|1:135,22:157:99:0|1:75737881_T_C:483,0,5602:75737881	0	0	21	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4	.	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3726.99	218	chr3	75737947	.	CCT	C	3726.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.750e-01;DP=3538;ExcessHet=1.7912;FS=15.802;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=57.52;MQRankSum=-1.248e+01;QD=3.68;ReadPosRankSum=0.449;SOR=1.772	GT:AD:DP:GQ:PL	0/1:151,18:169:99:301,0,6177	15	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,20:210:99:0|1:75737994_T_C:268,0,7832:75737994	3	0	15	3
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	0/1:118,18:136:99:172,0,3486	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	0/1:61,22:83:99:329,0,1854	0	0	21	0
chr3	81705479	81705479	G	A	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon2:c.C278T:p.P93L,	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	1296949	Glycogen_storage_disease_IV,_classic_hepatic|Glycogen_storage_disease,_type_IV|not_provided	MedGen:C1856301|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.095	H	0.47	T	0.362	D	0.542	D	0.889	4.595	25.0	5.95	2.821	8.158	19.992	0.676	0.116309487317	0.0003	.	0.0006	0.0002	0	0	0	0.0011	0	9.47e-05	0.0003234	50	154602	rs200746350	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0019	0.0016	0.0001	7.074e-05	0.0005	5.129e-05	0.0001	0.0030	0.0002	0.0004	7.286e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.909e-05	0.0001	0	6.577e-05	0.0006	0	0	0.0068	0.0002	0.0009	0.0002	0.007	0.61437	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.55	0.99125	H	0.4	0.57261	T	-9.38	0.98366	D	0.954	0.96302	0.362	0.88522	D	0.542	0.83127	D	10	0.87893015	0.87196	D	0.116309	0.79575	D	0.676	0.88061	.	.	0.868842128559	0.86756	0.9044751675611274	0.90420	0.24233950412	0.26745	0.635639071465	0.57945	T	0.869942	0.97182	D	0.106689	0.65007	D	0.243435	0.85308	D	0.94285124540329	0.61745	D	0.964504	0.87236	D	0.7518404	0.80975	0.7430891	0.84814	0.7518404	0.80976	0.7430891	0.84815	-11.505	0.82356	D	0.8420623431114873	0.91034	0.505	0.67004	A	.;.	.;.	5.653290	0.92823	33	0.99864189080316934	0.94276	0.98118	0.79751	D	AEFBI	0.851463	0.76833	D	1.08428805011824	0.97833	16.85521	0.996798358039505	0.98564	18.64579	0.999999983699363	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.95	5.95	0.96415	8.352000	0.89977	11.657000	0.93945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.0:1.0:0.0	19.992	0.97369	725	0.54935	Glycoside hydrolase, family 13, N-terminal;Glycoside hydrolase, family 13, N-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	0.02381	820.98	36	chr3	81705479	.	G	A	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.107;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-3.900e-02;SOR=0.611	GT:AD:DP:GQ:PL	0/1:39,34:73:99:835,0,902	20	0	1	0
chr3	97986930	97986930	C	-	exonic	GABRR3	.	frameshift deletion	GABRR3:NM_001105580:exon10:c.1157delG:p.C386Ffs*16,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7e-05	.	8.683e-05	0	0	0	0	5.953e-05	0.0014	0.0003	6.47e-05	10	154602	rs529176049	8.838e-05	8.824e-05	8.994e-05	8.681e-05	0.0012	7.566e-05	7.112e-05	0.0006	0.0004	0	0.0002	3.836e-05	0	0	0.0012	8.282e-05	9.947e-05	0.0002	5.256e-05	5.253e-05	7.707e-05	2.69e-05	0.0001	2.557e-05	1.83e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1063.94	37	chr3	97986929	.	AC	A	1063.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=791;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.244;SOR=0.912	GT:AD:DP:GQ:PL	0/1:47,34:81:99:1078,0,1654	20	0	1	0
chr3	98354118	98354118	G	A	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.G265A:p.D89N,	.	.	431	1027	64	0	0	64	0.0302172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.09	B	0.076	B	0.004	U	1.000	N	0.06	N	4.52	T	-0.894	T	0.003	T	0.1	-1.841	0.009	2.95	0.701	-0.461	4.426	0.014	0.00145736637064	0.0068	0.00459265	0.0069	0.0011	0.0054	0	0.0018	0.0089	0.0066	0.0095	0.0064359	995	154602	rs111341876	0.0067	0.0067	0.0064	0.0071	0.0553	0.0066	0.0066	0.0503	0.0484	0.0020	0.0067	0.0172	2.519e-05	0.0010	0.0553	0.0065	0.0082	0.0104	0.0056	0.0056	0.0057	0.0055	0.0095	0.0053	0.0052	0.0074	0.0066	0.0013	0.0252	0.0080	0.0185	0.0002	0.0008	0.0816	0.0072	0.0123	0.0095	0.638	0.05031	T	0.884	0.03187	T	0.09	0.25173	B	0.076	0.28435	B	0.004471	0.33710	U	0.000000	1	0.08975	N	0.17	0.09006	N	4.52	0.01997	T	0.6	0.02518	N	0.08	0.05542	-0.8945	0.48530	T	0.003	0.00961	T	10	0.006099701	0.00137	T	0.001457	0.02215	T	0.014	0.01968	.	.	0.101711395817	0.09552	0.047128418449297244	0.04655	0.00843398898925	0.00763	0.235067754984	0.02364	T	0.001693	0.01120	T	-0.695655	0.00039	T	-0.764218	0.02963	T	0.00267305383504619	0.00028	T	0.180682	0.01803	T	0.06302451	0.13228	0.047745172	0.06944	0.06302451	0.13227	0.047745172	0.06944	-2.585	0.06390	T	.	.	0.087	0.11076	B	.	.	0.718538	0.10876	7.550	0.4185265044537046	0.03046	0.00583	0.02625	N	AEFI	0.043423	0.06864	N	-1.06198692806369	0.07353	0.3413527	-1.00721648901428	0.09626	0.4799791	4.49553108117102E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	2.95	0.33285	-0.281000	0.08489	.	.	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1845:0.0:0.6362:0.1794	4.426	0.10929	773	0.48803	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	2810.98	33	chr3	98354118	.	G	A	2810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=967;ExcessHet=0.0000;FS=3.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.351;SOR=0.953	GT:AD:DP:GQ:PL	0/1:112,105:217:99:2825,0,2911	20	0	1	0
chr3	99848748	99848748	A	C	exonic	FILIP1L	.	nonsynonymous SNV	FILIP1L:NM_001282794:exon2:c.T2208G:p.I736M	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.141	B	0.132	B	0.246	N	0.660	N	0.69	N	2.12	T	-1.019	T	0.043	T	0.189	0.653	7.501	2.3	0.554	1.161	7.582	0.019	0.00794815588635	.	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs756219024	1.915e-05	1.915e-05	1.77e-05	2.063e-05	0.0005	1.328e-05	1.144e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.888e-05	6.623e-05	0	1.315e-05	1.314e-05	0	2.691e-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	0.002	0.72154	D	0.018	0.59732	D	0.087	0.27581	B	0.062	0.33005	B	0.245584	0.15618	N	0.576209	0.659611	0.33039	D	1.39	0.34934	L	2.12	0.25344	T	-0.63	0.19933	N	0.295	0.40164	-1.0194	0.23910	T	0.043	0.18368	T	10	0.08914074	0.15414	T	0.007948	0.21084	T	0.019	0.03383	0.247	0.18293	0.0846915920261	0.08053	0.10925980056292132	0.10854	0.0914239616523	0.10326	0.292502045631	0.09287	T	0.019449	0.15495	T	-0.231083	0.16505	T	-0.506066	0.21721	T	0.110808881770657	0.13507	T	0.835616	0.52386	T	0.09673237	0.22789	0.11236199	0.27110	0.09673237	0.22789	0.11236199	0.27109	-5.055	0.37431	T	.	.	0.074	0.05274	B	.;.;.;.;.;.	.;.;.;.;.;.	2.514499	0.32483	19.06	0.88530710791568057	0.18049	0.66627	0.33144	D	AEBCI	0.170220	0.29711	N	-0.414222639473277	0.24970	1.35211	-0.315797303720651	0.27588	1.531912	0.999995649170888	0.74766	0.706548	0.73137	0	0.659037	0.61890	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.17	2.3	0.27735	1.178000	0.31590	1.433000	0.26463	0.750000	0.87069	0.999000	0.42656	0.996000	0.32793	0.986000	0.61781	0.6631:0.268:0.0689:0.0	7.582	0.27139	444	0.79803	.;.;.;.;.;.	.	.	.	.	.	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	2874.98	34	chr3	99848748	.	A	C	2874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=905;ExcessHet=0.0000;FS=8.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.692e+00;SOR=0.384	GT:AD:DP:GQ:PL	0/1:89,101:190:99:2889,0,2595	20	0	1	0
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|1:20,21:41:99:0|1:100775333_T_C:343,0,221:100775333	4	0	17	0
chr3	109000589	109000589	C	G	exonic	MORC1	.	nonsynonymous SNV	MORC1:NM_014429:exon21:c.G2155C:p.D719H,	.	.	450	1052	18	2	0	22	0.0103481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.79	P	0.275	B	0.250	N	1.000	N	0.345	N	3.29	T	-0.964	T	0.008	T	0.143	1.023	9.179	2.52	0.471	0.306	7.210	0.040	0.00757732467962	0.0035	0.00139776	0.0035	9.621e-05	0.0032	0	0.0008	0.0050	0.0044	0.0024	0.00326	504	154602	rs35276036	0.0033	0.0035	0.0032	0.0034	0.0399	0.0032	0.0032	0.0356	0.0340	0.0013	0.0038	0.0176	0	0.0014	0.0399	0.0030	0.0045	0.0026	0.0031	0.0031	0.0030	0.0033	0.0038	0.0029	0.0028	0.0034	0.0033	0.0006	0	0.0034	0.0251	0	0.0013	0.0578	0.0038	0.0085	0.0014	0.044	0.41096	D	0.12	0.38160	T	0.79	0.44599	P	0.275	0.40079	B	0.250038	0.15529	N	0.608791	1	0.08975	N	0.69	0.16971	N	3.27	0.06602	T	-1.16	0.30964	N	0.156	0.16168	-0.9636	0.38488	T	0.008	0.02926	T	10	0.004162073	0.00082	T	0.007577	0.20113	T	0.040	0.10527	.	.	0.352048277211	0.34822	0.08158007637580966	0.08093	0.35527665299	0.37290	0.361502379179	0.19605	T	0.053147	0.29361	T	-0.636271	0.00088	T	-0.682731	0.06818	T	0.00664194794448686	0.00074	T	0.533947	0.17813	T	0.06313538	0.13262	0.072445236	0.15630	0.06313538	0.13262	0.072445236	0.15630	-5.792	0.44505	T	.	.	0.115	0.25331	B	.;.	.;.	0.692981	0.10619	7.319	0.90771240131821285	0.20020	0.09396	0.15160	N	AEFBI	0.050039	0.08706	N	-0.688465166126628	0.16348	0.8321818	-0.751292955680224	0.15690	0.8264733	2.91677122939411E-5	0.03498	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.25	2.52	0.29514	0.348000	0.19784	-1.067000	0.06433	0.599000	0.40250	0.047000	0.21291	0.000000	0.08366	0.019000	0.11356	0.0:0.7293:0.0:0.2707	7.210	0.25103	881	0.29269	.;.	.	.	.	.	.	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	1324.98	36	chr3	109000589	.	C	G	1324.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.210e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.412;SOR=0.693	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1339,0,1605	20	0	1	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del	.	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3647.07	39	chr3	111885119	.	TCCTGTG	T	3647.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=930;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=0.375;SOR=0.809	GT:AD:DP:GQ:PL	0/1:60,54:114:99:2055,0,2335	19	0	2	0
chr3	112534243	112534243	C	A	exonic	ATG3	.	nonsynonymous SNV	ATG3:NM_001278712:exon11:c.G889T:p.V297L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.902	P	.	.	1.000	N	.	.	.	.	-0.961	T	0.164	T	0.074	2.109	13.01	0.141	-0.400	-1.107	3.739	0.050	0.00666316251855	0.0031	0.000798722	0.0024	0.0014	0.0025	0	0	0.0037	0.0022	0	0.0026649	412	154602	rs190048553	0.0040	0.0040	0.0041	0.0038	0.0048	0.0039	0.0039	0.0047	0.0046	0.0009	0.0035	0.0011	2.557e-05	0.0004	0.0016	0.0048	0.0040	8.579e-05	0.0029	0.0029	0.0031	0.0026	0.0045	0.0027	0.0026	0.0041	0.0039	0.0011	0.0022	0.0044	0.0014	0	0.0002	0.0034	0.0045	0.0052	0	0.026	0.46910	D	0.074	0.42976	T	0.995	0.67487	D	0.902	0.64047	P	.	.	.	.	0.99984	0.20152	N	.	.	.	.	.	.	-2.49	0.54217	N	0.06	0.03175	-0.9614	0.38916	T	0.164	0.50111	T	7	0.008049667	0.00183	T	0.006663	0.17585	T	0.050	0.13987	0.557	0.67547	0.182106788282	0.17826	.	.	.	.	.	.	.	.	.	.	-0.615134	0.00118	T	-0.653067	0.08741	T	0.028412199154227	0.01748	T	0.264174	0.04286	T	.	.	.	.	.	.	.	.	-2.785	0.08046	T	.	.	0.228	0.46061	B	.	.	0.006902	0.04328	1.100	0.91013392590306841	0.20263	0.07293	0.13315	N	AEFBI	0.064689	0.12576	N	-0.911072454221818	0.10582	0.5063705	-1.11080170109815	0.07493	0.3646823	0.0713208315776616	0.15562	0.706548	0.73137	0	0.724815	0.89359	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	5.08	0.141	0.14107	-0.275000	0.08557	-0.570000	0.08431	-1.995000	0.00452	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1071:0.5171:0.1049:0.2709	3.739	0.08047	762	0.50290	.	.	.	.	.	.	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	1621.98	81	chr3	112534243	.	C	A	1621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.095;SOR=0.639	GT:AD:DP:GQ:PL	0/1:63,61:124:99:1636,0,1615	20	0	1	0
chr3	112974799	112974801	AAG	-	exonic	CD200R1	.	nonframeshift deletion	CD200R1:NM_138806:exon1:c.57_59del:p.F19del	.	.	424	1067	30	1	0	32	0.0147738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0068	0.0012	0.0016	0	0.0008	0.0075	0.0078	0.0166	0.0012679	33	26028	rs564728039	0.0065	0.0066	0.0061	0.0069	0.0169	0.0064	0.0064	0.0162	0.0159	0.0007	0.0026	0.0067	0	0.0011	0.0082	0.0066	0.0053	0.0169	0.0044	0.0045	0.0045	0.0044	0.0162	0.0042	0.0041	0.0133	0.0122	0.0008	0	0.0032	0.0066	0.0002	0.0008	0.0068	0.0069	0.0043	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1271.94	34	chr3	112974798	.	TAAG	T	1271.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.090e-01;DP=779;ExcessHet=0.0000;FS=0.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=-5.840e-01;SOR=0.799	GT:AD:DP:GQ:PL	0/1:47,34:81:99:1286,0,1871	20	0	1	0
chr3	113017564	113017564	C	T	exonic	NEPRO	.	nonsynonymous SNV	NEPRO:NM_001319109:exon2:c.G145A:p.V49I	.	.	436	1040	46	0	0	46	0.0216369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.389	B	0.063	B	0.004	N	0.999	N	1.83	L	0.88	T	-1.035	T	0.051	T	0.041	1.869	12.21	0.682	-0.179	0.183	1.860	0.029	.	0.0075	0.00738818	0.0108	0.0045	0.0051	0	0.0030	0.0105	0.0110	0.0288	0.010278	1589	154602	rs140939168	0.0097	0.0097	0.0089	0.0104	0.0309	0.0095	0.0095	0.0299	0.0295	0.0039	0.0063	0.0081	0	0.0026	0.0158	0.0090	0.0093	0.0309	0.0077	0.0078	0.0074	0.0082	0.0280	0.0074	0.0072	0.0242	0.0227	0.0038	0	0.0098	0.0081	0.0002	0.0021	0.0136	0.0098	0.0071	0.0280	0.074	0.34621	T	0.086	0.44106	T	0.243	0.34565	B	0.028	0.27082	B	0.003932	0.34318	N	0.305787	0.999999	0.21260	N	.	.	.	0.88	0.46028	T	-0.31	0.20791	N	0.135	0.13198	-1.0347	0.18951	T	0.051	0.21728	T	10	0.0031413138	0.00052	T	.	.	.	0.029	0.06676	.	.	.	.	0.15106425446249683	0.15028	0.128662275284	0.14503	.	.	.	0.004073	0.03483	T	-0.649727	0.00073	T	-0.684435	0.06717	T	0.00022871083671684	0.00001	T	0.659934	0.27348	T	0.015662318	0.00150	0.027149944	0.00847	0.015662318	0.00150	0.027149944	0.00847	-3.423	0.15367	T	0.3366383189430692	0.43453	0.101	0.21466	B	.;.	.;.	0.941427	0.13173	9.672	0.91759287610629481	0.21059	0.03497	0.08668	N	AEFBI	0.040518	0.06036	N	-0.857832827103955	0.11858	0.574604	-0.932059885580029	0.11339	0.5770993	0.999405331751132	0.39524	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.61	0.682	0.17157	0.058000	0.14178	-0.567000	0.08447	-0.273000	0.06669	0.001000	0.13787	0.000000	0.08366	0.369000	0.26088	0.1224:0.3637:0.2865:0.2273	1.860	0.02993	438	0.80235	Domain of unknown function DUF4477;.	.	.	.	.	rs140939168	Likely benign	0	0	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	1281.98	43	chr3	113017564	.	C	T	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.466;SOR=0.660	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1296,0,976	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	1/2:0,27,30,0,0,0:57:99:2274,1151,1074,1108,0,1085,2274,1159,1144,2304,2274,1159,1144,2304,2304,2274,1159,1144,2304,2304,2304	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	1/2:0,27,30,0,0,0:57:99:2274,1151,1074,1108,0,1085,2274,1159,1144,2304,2274,1159,1144,2304,2304,2274,1159,1144,2304,2304,2304	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	1/2:0,27,30,0,0,0:57:99:2274,1151,1074,1108,0,1085,2274,1159,1144,2304,2274,1159,1144,2304,2304,2274,1159,1144,2304,2304,2304	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	1/2:0,27,30,0,0,0:57:99:2274,1151,1074,1108,0,1085,2274,1159,1144,2304,2274,1159,1144,2304,2304,2274,1159,1144,2304,2304,2304	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	0/1:60,31:91:99:127,0,1208	3	0	14	4
chr3	122261775	122261775	C	T	exonic	CASR	.	nonsynonymous SNV	CASR:NM_000388:exon4:c.C740T:p.S247F	Hypercalciuric hypercalcemia (3);Hyperparathyroidism, neonatal, Autosomal recessive, Autosomal dominant;Hypocalcemia, autosomal dominant, Autosomal dominant;Hypocalcemia, autosomal dominant, with Bartter syndrome, Autosomal dominant;Hypocalciuric hypercalcemia, type I, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	75403	Autosomal_dominant_hypocalcemia_1|Familial_hypocalciuric_hypercalcemia|Nephrolithiasis/nephrocalcinosis|not_provided	MONDO:MONDO:0011013,MedGen:C0342345,OMIM:601198|MONDO:MONDO:0018458,MedGen:C1809471,OMIM:PS145980,Orphanet:405|MedGen:CN580796|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.68	T	0.002	B	0.007	B	0.000	D	0.939	D	0.185	N	-1.81	D	-0.661	T	0.305	T	0.263	0.598	7.223	5.27	2.941	2.637	9.546	0.258	0.00794241573943	0.0002	.	3.295e-05	0	0	0	0.0002	4.495e-05	0	0	2.59e-05	4	154602	rs200382161	5.404e-05	5.404e-05	5.309e-05	5.5e-05	0.0003	4.41e-05	4.082e-05	6.092e-05	4.042e-05	2.987e-05	0	3.826e-05	0	0.0001	0.0003	5.036e-05	6.623e-05	0.0001	9.846e-05	9.842e-05	8.992e-05	0.0001	0.0002	6.001e-05	4.875e-05	6.803e-05	5.087e-05	2.405e-05	0	6.533e-05	0	0	0.0003	0	0.0001	0	0.0002	0.667	0.04602	T	0.687	0.05995	T	0.002	0.09854	B	0.007	0.12992	B	0.000184	0.48115	D	0.252696	0.939	0.37231	D	0.175	0.09039	N	-1.81	0.83970	D	0.25	0.04456	N	0.171	0.18239	-0.6611	0.62228	T	0.305	0.67621	T	10	0.1483809	0.28099	T	0.007942	0.21059	T	0.258	0.56959	.	.	0.849203263486	0.84775	0.7786154728644107	0.77812	0.662870960301	0.58999	0.515841424465	0.41041	T	0.307688	0.67982	T	-0.269948	0.11763	T	-0.293473	0.45411	T	0.224615469574928	0.21691	T	0.89531	0.63576	D	0.29192775	0.52171	0.12875214	0.30970	0.22490397	0.45142	0.14206739	0.33809	-4.143	0.25922	T	0.10314840728606874	0.07921	0.193	0.54324	B	.;.;.;.	.;.;.;.	2.918730	0.38741	20.8	0.76760433107383141	0.11598	0.82319	0.41564	D	AEFBI	0.409866	0.48097	N	-0.200222562687564	0.33125	1.875818	0.0598826173605014	0.42550	2.575718	0.999999277687057	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	6.17	5.27	0.73797	2.659000	0.46406	7.708000	0.66649	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.1426:0.7871:0.0:0.0704	9.546	0.38444	400	0.82730	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	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	1437.98	33	chr3	122261775	.	C	T	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.120e-01;DP=828;ExcessHet=0.0000;FS=1.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-4.850e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:76,55:131:99:1452,0,2256	20	0	1	0
chr3	124227993	124227993	C	G	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001024660:exon2:c.C71G:p.S24C	.	.	411	1108	2	1	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.997	D	0.85	P	0.000	D	1.000	D	0.345	N	0.72	T	-0.737	T	0.208	T	0.336	2.547	14.48	5.03	2.616	2.979	18.547	0.069	0.0455498442617	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs780167418	1.916e-05	1.915e-05	8.169e-06	3.025e-05	0.0003	1.328e-05	1.144e-05	0.0002	0.0002	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0.0003	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.1	0.30800	T	0.105	0.38450	T	0.002	0.12183	B	0.004	0.14300	B	0.000006	0.62929	D	0.000000	0.990248	0.41118	D	0.695	0.17993	N	0.72	0.60854	T	-1.35	0.37759	N	0.542	0.56919	-0.7371	0.58601	T	0.208	0.56676	T	10	0.21902499	0.38560	T	0.04555	0.62032	D	0.080	0.23350	0.363	0.36874	0.473349154261	0.46962	0.9002264591533353	0.89994	1.3345040269	0.83722	0.770907640457	0.77560	T	0.023735	0.18066	T	-0.277445	0.10940	T	-0.344158	0.39873	T	0.192700389769645	0.20002	T	0.869013	0.57273	D	.	.	.	.	.	.	.	.	-4.183	0.26505	T	.	.	0.099	0.16582	B	.;.;.	.;.;.	4.811923	0.78289	26.9	0.95346242740078235	0.26724	0.94396	0.61032	D	AEFBI	0.445946	0.50221	N	0.0426262455742273	0.43803	2.666247	0.201401161042185	0.49926	3.190102	0.999987253316081	0.51787	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.03	5.03	0.67015	3.292000	0.51478	7.722000	0.67351	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.547	0.91003	626	0.65439	.;.;.	.	.	.	.	.	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	810.98	34	chr3	124227993	.	C	G	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=811;ExcessHet=0.0000;FS=4.358;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=1.52;SOR=0.358	GT:AD:DP:GQ:PL	0/1:53,35:88:99:825,0,1436	20	0	1	0
chr3	124434406	124434406	G	A	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001024660:exon17:c.G2923A:p.D975N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.971	D	0.666	P	0.000	D	1.000	D	0.345	N	-0.05	T	-0.851	T	0.195	T	0.085	3.821	19.41	5.08	2.644	9.411	18.664	0.248	0.0104833051279	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1188042863	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0003	1.48e-06	9.7e-07	6.101e-05	2.525e-05	0	0	0	2.519e-05	3.744e-05	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.31834	T	0.278	0.27855	T	0.299	0.32525	B	0.233	0.38358	B	0.000085	0.51296	D	0.128712	0.999999	0.58761	D	1.12	0.28775	L	-0.05	0.63403	T	-2.75	0.60827	D	0.242	0.31478	-0.8509	0.51905	T	0.195	0.54899	T	10	0.292915	0.46867	T	0.010483	0.27066	T	0.248	0.55615	0.734	0.86719	0.632960793232	0.62995	0.3941934791232357	0.39334	0.680550535386	0.60001	0.757168650627	0.75508	T	0.018762	0.15068	T	-0.253257	0.13701	T	-0.432435	0.29658	T	0.929276406764984	0.59324	D	0.982102	0.94028	D	.	.	.	.	.	.	.	.	-10.443	0.76519	D	.	.	0.086	0.15698	B	.;.;.	.;.;.	4.642704	0.73929	26.1	0.99841438871275534	0.92143	0.99577	0.97626	D	AEFBI	0.894755	0.83407	D	0.0441096050663226	0.43871	2.671742	0.159088239757195	0.47625	2.989986	0.999999999938808	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.08	5.08	0.68373	9.757000	0.98114	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:1.0:0.0	18.664	0.91442	670	0.60992	.;.;.	.	.	.	.	.	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	2461.98	39	chr3	124434406	.	G	A	2461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=875;ExcessHet=0.0000;FS=5.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-2.700e-02;SOR=0.409	GT:AD:DP:GQ:PL	0/1:79,101:180:99:2476,0,1719	20	0	1	0
chr3	126131520	126131520	A	G	exonic	ALDH1L1	.	nonsynonymous SNV	ALDH1L1:NM_001270365:exon11:c.T1184C:p.M395T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.000	D	1.000	D	2.21	M	-1.08	T	0.009	D	0.548	D	0.758	1.741	11.78	2.91	0.719	8.322	7.734	0.708	0.0698699719056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	2.3	0.65703	M	-1.08	0.77078	T	-4.94	0.81835	D	0.917	0.92667	0.009	0.82433	D	0.548	0.83432	D	10	0.90523684	0.89888	D	0.06987	0.70848	D	0.708	0.89559	0.739	0.87147	0.813516064682	0.81176	0.9191638624479672	0.91892	0.374827847212	0.38942	0.818411111832	0.84785	D	0.552764	0.84886	D	0.236415	0.77323	D	0.101818	0.77028	D	0.996112942695618	0.88696	D	0.941406	0.78138	D	0.90342796	0.91692	0.8951856	0.94634	0.90342796	0.91693	0.8951856	0.94635	-9.336	0.69959	D	.	.	0.896	0.83659	P	.;.;.;.	.;.;.;.	4.907222	0.80710	27.4	0.97249180836520488	0.33033	0.98571	0.84224	D	AEFDBI	0.955214	0.97288	D	0.287628670803759	0.55521	3.716133	0.16928705174706	0.48171	3.036845	0.999998460587128	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.08	2.91	0.32903	8.991000	0.93075	10.805000	0.83801	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8958:0.0:0.1042:0.0	7.734	0.27969	851	0.35303	.;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	521.98	48	chr3	126131520	.	A	G	521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.410e-01;DP=968;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.828;SOR=0.596	GT:AD:DP:GQ:PL	0/1:45,25:70:99:536,0,1139	20	0	1	0
chr3	126160912	126160912	C	T	exonic	ALDH1L1	.	nonsynonymous SNV	ALDH1L1:NM_001270364:exon2:c.G98A:p.G33D	.	.	426	1086	10	0	0	10	0.00458295	.	.	708521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.15	M	-1.15	T	0.155	D	0.518	D	0.911	4.529	24.4	4.76	2.466	7.399	15.309	0.781	0.0416295819544	0.0043	0.00179712	0.0045	0.0011	0.0032	0	0.0032	0.0066	0.0033	0.0018	0.0044889	694	154602	rs143122118	0.0060	0.0060	0.0061	0.0058	0.0070	0.0059	0.0058	0.0069	0.0068	0.0009	0.0043	0.0004	0	0.0039	0.0016	0.0070	0.0053	0.0021	0.0039	0.0039	0.0043	0.0036	0.0061	0.0037	0.0036	0.0056	0.0054	0.0015	0.0011	0.0044	0	0.0004	0.0032	0	0.0061	0.0043	0.0017	0.022	0.91255	D	0.044	0.52389	D	0.763	0.43659	P	0.582	0.50238	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.725	0.79712	M	-1.15	0.77964	T	-5.67	0.92260	D	0.826	0.82559	0.155	0.85145	D	0.518	0.81995	D	10	0.015886605	0.00334	T	0.04163	0.60030	D	0.781	0.92705	.	.	0.923903873739	0.92313	0.737669835758105	0.73711	0.852060836716	0.68584	0.633820593357	0.57687	T	0.639879	0.89143	D	0.0776066	0.61758	D	0.342845	0.90033	D	0.0263078130503827	0.01447	T	0.941006	0.77964	D	0.8119775	0.84684	0.6674506	0.80496	0.8119775	0.84686	0.6674506	0.80497	-10.546	0.77907	D	.	.	0.275	0.52085	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.621352	0.73381	26.0	0.99825296991257173	0.90764	0.96693	0.70437	D	AEFDBI	0.977851	0.99742	D	0.638309508098115	0.75615	6.337207	0.621937125334831	0.76537	6.509157	0.999999972988082	0.74766	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.76	4.76	0.60189	7.771000	0.84203	7.556000	0.60375	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:1.0:0.0:0.0	15.309	0.73726	789	0.46346	Formyl transferase, N-terminal;.;Formyl transferase, N-terminal;.;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	36	chr3	126160912	.	C	T	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=847;ExcessHet=0.0000;FS=0.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-7.750e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/1:67,56:123:99:1267,0,1714	20	0	1	0
chr3	129574473	129574473	C	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon12:c.G2548A:p.A850T,	.	.	408	1103	11	0	0	11	0.00496166	.	.	747981	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.27	T	0.728	P	0.196	B	0.008	N	1.000	D	1.87	L	1.39	T	-1.012	T	0.090	T	0.405	2.902	15.67	4.32	2.102	3.313	17.170	0.059	0.0325043448813	0.0002	0.000998403	0.0016	0	0.0006	0	0	0.0006	0.0024	0.0085	0.0012613	195	154602	rs199793511	0.0008	0.0008	0.0005	0.0011	0.0088	0.0007	0.0007	0.0083	0.0081	2.987e-05	0.0004	0.0039	2.519e-05	1.907e-05	0.0038	0.0002	0.0010	0.0088	0.0004	0.0004	0.0004	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	2.404e-05	0	0.0003	0.0023	0	0	0.0034	0.0002	0.0014	0.0066	0.104	0.29959	T	0.125	0.35330	T	0.728	0.42542	P	0.196	0.36635	B	0.007602	0.31297	N	0.324362	0.997777	0.44180	D	0.895	0.22405	L	1.39	0.33842	T	-1.16	0.29727	N	0.525	0.55453	-1.0118	0.26353	T	0.090	0.34518	T	10	0.007889956	0.00179	T	0.032504	0.54314	D	0.059	0.16972	.	.	0.259504319725	0.25562	0.4460281072872651	0.44520	0.628086612755	0.56883	0.539982438087	0.44442	T	0.122388	0.44602	T	-0.438278	0.01324	T	-0.396924	0.33741	T	0.0259121548729908	0.01394	T	0.920008	0.71084	D	0.099070564	0.23375	0.10527839	0.25303	0.099070564	0.23375	0.10527839	0.25303	-6.499	0.50278	T	.	.	0.107	0.20117	B	.	.	3.794154	0.54627	23.5	0.99824862212431575	0.90764	0.86648	0.45973	D	AEFBI	0.260899	0.37896	N	0.114203387211714	0.47125	2.94263	0.140330951946635	0.46632	2.906072	0.999888048646305	0.44867	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.32	4.32	0.50899	3.377000	0.52156	5.898000	0.50850	0.580000	0.29708	0.976000	0.34826	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	17.170	0.86707	543	0.72751	PSI 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	0.02381	1129.98	35	chr3	129574473	.	C	T	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.136e+00;DP=877;ExcessHet=0.0000;FS=0.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.901;SOR=0.813	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1144,0,1208	20	0	1	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|2:27,0,32,0:59:99:0|1:130421335_G_C:765,846,1725,0,879,786,846,1725,879,1725:130421335	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|2:27,0,32,0:59:99:0|1:130421335_G_C:765,846,1725,0,879,786,846,1725,879,1725:130421335	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|2:27,0,32,0:59:99:0|1:130421335_G_C:765,846,1725,0,879,786,846,1725,879,1725:130421335	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|1:27,33,0:60:99:0|1:130421335_G_C:772,0,783,853,879,1732:130421335	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|1:27,33,0:60:99:0|1:130421335_G_C:772,0,783,853,879,1732:130421335	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	0/1:42,18,0:60:96:.:.:96,0,1200,218,1248,1466	6	0	10	4
chr3	134029726	134029726	G	A	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon1:c.C77T:p.S26L,	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	720195	SLCO2A1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.994	D	0.553	P	1.000	U	1.000	N	0	N	1.06	T	-1.023	T	0.105	T	0.422	4.000	20.5	3.02	1.680	3.469	9.639	0.123	0.196217567825	0.0025	0.000399361	0.0042	0.0006	0.0028	0	0.0082	0.0067	0	0.0004	0.0018952	293	154602	rs201797879	0.0041	0.0040	0.0041	0.0040	0.0048	0.0040	0.0039	0.0047	0.0047	0.0005	0.0012	0.0001	0	0.0030	0.0013	0.0048	0.0040	0.0006	0.0027	0.0027	0.0028	0.0027	0.0051	0.0025	0.0024	0.0047	0.0045	0.0006	0.0011	0.0010	0	0	0.0017	0	0.0051	0.0014	0.0004	0.036	0.43393	D	0.016	0.60972	D	0.414	0.66517	B	0.062	0.49313	B	1.000000	0.07966	U	1.719030	0.999878	0.19925	N	0.55	0.14455	N	1.06	0.54149	T	-2.24	0.50175	N	0.317	0.43995	-1.0230	0.22736	T	0.105	0.38341	T	10	0.007827938	0.00178	T	0.196218	0.86466	D	0.123	0.34020	.	.	0.728633293707	0.72622	0.3192763800621531	0.31840	0.0953066022556	0.10761	0.711259007454	0.68776	T	0.205528	0.56461	T	-0.398498	0.02369	T	-0.340486	0.40289	T	0.0206827890633618	0.00768	T	0.832417	0.50060	T	0.094091475	0.22114	0.1427364	0.33947	0.074492924	0.16719	0.12384023	0.29856	-5.16	0.38533	T	0.2327777085538905	0.31507	0.187	0.40295	B	.;.	.;.	4.512297	0.70673	25.6	0.99717830681296304	0.81843	0.63582	0.32134	D	AEFDBCI	0.164066	0.29042	N	-0.310952779650803	0.28730	1.587168	-0.270338171797216	0.29081	1.62644	0.999670257315734	0.41644	0.65757	0.49021	0	0.563428	0.19063	0	0.606814	0.37721	0	0.604282	0.37693	0	.	.	3.02	3.02	0.33970	4.304000	0.58899	8.643000	0.77902	0.500000	0.22704	0.997000	0.40164	1.000000	0.68203	0.562000	0.30459	0.0:0.0:1.0:0.0	9.639	0.38993	883	0.28872	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	0.02381	433.98	35	chr3	134029726	.	G	A	433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.322e+00;DP=749;ExcessHet=0.0000;FS=3.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=1.12;SOR=0.997	GT:AD:DP:GQ:PL	0/1:26,22:48:99:448,0,611	20	0	1	0
chr3	142493223	142493223	A	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon34:c.T5795C:p.M1932T	Seckel syndrome 1, Autosomal recessive	.	2	1490	29	1	0	31	0.0102956	.	.	293044	Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|Seckel_syndrome_1|not_provided	MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.7	T	0.004	B	0.021	B	0.027	N	0.506	D	0.345	N	-0.17	T	-1.007	T	0.093	T	0.123	0.503	6.728	1.09	0.345	1.648	5.932	0.046	.	0.0005	0.00239617	0.0023	0	0.0005	0	0.0002	0.0013	0.0011	0.0112	0.0020828	322	154602	rs150339560	0.0014	0.0014	0.0011	0.0017	0.0105	0.0013	0.0013	0.0100	0.0097	0.0002	0.0006	7.655e-05	2.521e-05	0.0003	0.0069	0.0009	0.0014	0.0105	0.0010	0.0010	0.0011	0.0010	0.0081	0.0009	0.0008	0.0061	0.0054	0.0001	0	0.0005	0	0	0.0003	0.0068	0.0014	0.0009	0.0081	0.522	0.07211	T	0.673	0.06245	T	0.004	0.12183	B	0.021	0.19346	B	0.026712	0.25874	N	0.453074	0.506061	0.31781	D	0.345	0.11182	N	-0.17	0.65563	T	-0.34	0.12661	N	0.156	0.16168	-1.0067	0.27943	T	0.093	0.35390	T	10	0.0055253804	0.00122	T	.	.	.	0.046	0.12618	.	.	0.573967493499	0.57064	0.16067797887374585	0.15988	0.72376401681	0.62348	0.415606826544	0.27231	T	0.043643	0.26566	T	-0.482922	0.00711	T	-0.457065	0.26919	T	0.0114550716298242	0.00172	T	0.772623	0.40374	T	0.036460824	0.04490	0.045311764	0.06070	0.036460824	0.04490	0.045311764	0.06069	-2.316	0.04644	T	.	.	0.066	0.02228	B	.	.	1.776277	0.22588	15.68	0.77247482962935432	0.11797	0.94128	0.60197	D	AEFGBI	0.271006	0.38695	N	-0.549658756175477	0.20494	1.080785	-0.371449425263281	0.25852	1.424278	0.352174036091183	0.19694	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.5	1.09	0.19517	1.857000	0.39038	3.644000	0.39356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.5014:0.0:0.0847:0.4138	5.932	0.18380	379	0.83778	PIK-related kinase, FAT|PIK-related kinase	.	.	.	.	.	Likely benign	0	0	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	1884.98	34	chr3	142493223	.	A	G	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.150e-01;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=7.000e-03;SOR=0.714	GT:AD:DP:GQ:PL	0/1:80,85:165:99:1899,0,1857	20	0	1	0
chr3	142838869	142838869	C	T	exonic	PCOLCE2	.	nonsynonymous SNV	PCOLCE2:NM_013363:exon5:c.G611A:p.R204Q,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.136	B	0.038	B	0.000	D	1.000	D	0.745	N	2.24	T	-1.067	T	0.029	T	0.286	2.992	15.98	4.71	2.726	5.759	15.691	0.059	0.00839284958611	7.7e-05	.	0.0001	0	0.0003	0.0001	0	0.0001	0	0.0002	0.0001035	16	154602	rs149199107	0.0001	0.0001	9.673e-05	0.0001	0.0017	0.0001	9.422e-05	0.0009	0.0007	8.967e-05	0.0003	0	0	0	0.0017	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.163e-05	6.72e-05	7.909e-05	5.994e-05	4.812e-05	0	0.0002	0	0	0	0.0068	0.0001	0.0009	0	0.356	0.12070	T	0.606	0.07894	T	0.136	0.27347	B	0.038	0.23361	B	0.000001	0.84330	D	0.051894	0.999918	0.51042	D	0.43	0.12624	N	2.24	0.17923	T	-0.88	0.24460	N	0.481	0.51583	-1.0671	0.10062	T	0.029	0.12585	T	10	0.14994812	0.28369	T	0.008393	0.22206	T	0.059	0.16972	.	.	0.216624796971	0.21254	0.5540030565637254	0.55327	0.178059495125	0.20030	0.644383072853	0.59187	T	0.034441	0.23322	T	-0.412133	0.01924	T	-0.501817	0.22159	T	0.0585156232118607	0.06932	T	0.889911	0.62289	D	0.34581095	0.56739	0.23281237	0.48452	0.34581095	0.56739	0.23281237	0.48451	-6.917	0.53425	T	.	.	0.135	0.45074	B	.;.;.	.;.;.	3.852931	0.55822	23.7	0.99682876395865105	0.79373	0.95354	0.64393	D	AEFBI	0.762546	0.69992	D	-0.0476920201111781	0.39705	2.345831	0.166030138022003	0.47999	3.021786	0.475038361892501	0.20739	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.77	4.71	0.59010	5.832000	0.69048	4.796000	0.44934	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9235:0.0:0.0765	15.691	0.77211	643	0.63827	CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1315.98	35	chr3	142838869	.	C	T	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=795;ExcessHet=0.0000;FS=2.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.476e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1330,0,1345	20	0	1	0
chr3	155482091	155482091	G	C	exonic	PLCH1	.	nonsynonymous SNV	PLCH1:NM_001130960:exon23:c.C3959G:p.T1320S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.003	B	0.370	N	1.000	N	0.695	N	-1.05	T	-0.937	T	0.242	T	0.1	1.175	9.781	-1.38	-0.196	0.382	9.166	0.135	0.0168936645182	7.7e-05	.	6.602e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs143608009	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.974e-05	0	3.826e-05	0	0	0.0002	0.0002	0.0001	0	3.286e-05	3.284e-05	2.57e-05	4.036e-05	5.881e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.413e-05	0	0	0	0	0	0	5.881e-05	0	0	0.446	0.09101	T	0.794	0.04155	T	0.0	0.02946	B	0.001	0.08700	B	0.369596	0.04354	N	1.387750	1	0.08975	N	0.69	0.16971	N	-1.05	0.76690	T	-0.49	0.15578	N	0.068	0.04072	-0.9374	0.43025	T	0.242	0.61000	T	10	0.05170071	0.05091	T	0.016894	0.38356	T	0.135	0.36572	0.159	0.06287	0.828372505549	0.82674	0.13168003618366847	0.13093	0.0412759212422	0.04428	0.212326183915	0.00914	T	0.029744	0.21243	T	-0.351583	0.04629	T	-0.506133	0.21712	T	0.0135514363646507	0.00249	T	0.448055	0.12582	T	0.026054442	0.01615	0.024807606	0.00507	0.026054442	0.01615	0.024807606	0.00507	-2.76	0.08221	T	.	.	0.090	0.12512	B	.;.;.	.;.;.	-0.357842	0.02376	0.261	0.66869101108231066	0.08185	0.07738	0.13738	N	AEFBI	0.141305	0.26344	N	-1.06061737892279	0.07380	0.3426916	-1.04526359759286	0.08806	0.434785	0.122750728016999	0.16921	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.49	-1.38	0.08554	0.352000	0.19851	0.379000	0.17760	-0.161000	0.11593	0.002000	0.15269	0.000000	0.08366	0.280000	0.24017	0.0:0.2733:0.1581:0.5686	9.166	0.36211	742	0.52873	.;.;.	.	.	.	.	.	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	2235.98	33	chr3	155482091	.	G	C	2235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-9.600e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:87,85:172:99:2250,0,2407	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|2:77,0,26:103:99:0|1:155853644_G_C:204,430,2548,0,2118,2045:155853644	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|2:77,0,26:103:99:0|1:155853644_G_C:204,430,2548,0,2118,2045:155853644	6	0	2	4
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.016	B	0.006	B	0.008	N	1.000	D	1.1	L	3.02	T	-1.085	T	0.025	T	0.19	1.903	12.32	5.47	2.569	1.889	10.655	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	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	0.25	6359.01	153	chr3	157381267	.	G	C	6359.01	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-4.595e+00;DP=3537;ExcessHet=3.5521;FS=96.014;InbreedingCoeff=-0.3383;MLEAC=10;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.96;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,19:188:99:0|1:157381267_G_C:160,0,6948:157381267	8	0	8	5
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.716	P	0.000	D	1.000	D	1.78	L	2.87	T	-1.157	T	0.050	T	0.611	2.725	15.07	4.6	1.319	7.223	13.320	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	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	0.2353	6222.97	159	chr3	157381269	.	G	C	6222.97	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-6.295e+00;DP=3622;ExcessHet=3.5521;FS=94.732;InbreedingCoeff=-0.3126;MLEAC=9;MLEAF=0.265;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=1.96;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,19:187:99:0|1:157381267_G_C:163,0,6926:157381267	9	0	8	4
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,20,0:197:99:0|1:157381267_G_C:140,0,7086,671,7143,7814:157381267	13	0	5	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,20,0:197:99:0|1:157381267_G_C:140,0,7086,671,7143,7814:157381267	13	0	5	0
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3552.87	37	chr3	157381276	.	T	TCCCCC	3552.87	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.087e+00;DP=2099;ExcessHet=1.1607;FS=91.920;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=3.43;ReadPosRankSum=2.44;SOR=10.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,20:193:99:0|1:157381267_G_C:152,0,6934:157381267	13	0	5	3
chr3	157413962	157413962	C	T	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon6:c.G825A:p.M275I	.	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.005	B	0.225	N	0.859	D	0	N	1.34	T	-1.067	T	0.045	T	0.277	1.455	10.81	2.64	0.808	0.047	9.641	0.013	0.00594174699308	0.0002	0.000599042	0.0005	9.612e-05	0.0012	0.0001	0	0.0006	0	0.0002	0.0005175	80	154602	rs138076442	0.0003	0.0003	0.0003	0.0003	0.0071	0.0003	0.0003	0.0054	0.0048	0.0004	0.0018	0.0025	2.52e-05	0	0.0071	0.0002	0.0008	0.0002	0.0005	0.0005	0.0004	0.0006	0.0023	0.0004	0.0004	0.0017	0.0015	0	0	0.0023	0.0020	0	0	0.0068	0.0004	0.0028	0	0.179	0.22053	T	0.184	0.29153	T	0.001	0.09854	B	0.005	0.11217	B	0.225333	0.16042	N	0.688594	0.999945	0.19238	N	1.5	0.37844	L	1.34	0.34841	T	-1.08	0.29323	N	0.205	0.22742	-1.0671	0.10062	T	0.045	0.19478	T	10	0.010435283	0.00232	T	0.005942	0.15490	T	0.013	0.01715	0.357	0.35897	0.154104182512	0.14974	0.19820049485936922	0.19737	0.04113773009	0.04411	0.252716243267	0.04059	T	0.047387	0.27709	T	-0.50255	0.00553	T	-0.501919	0.22148	T	0.00991216866297663	0.00132	T	0.732927	0.35246	T	0.062552586	0.13077	0.11330097	0.27344	0.062552586	0.13076	0.11330097	0.27344	-2.927	0.10052	T	.	.	0.169	0.38836	B	.;.;.	.;.;.	1.026808	0.14066	10.64	0.934377816066846	0.23214	0.06946	0.12972	N	AEFBI	0.071730	0.14291	N	-0.693150065981131	0.16216	0.8241944	-0.571294722468184	0.20243	1.089731	0.120924650400634	0.16880	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.8	2.64	0.30504	0.063000	0.14285	0.297000	0.16936	0.549000	0.26987	0.016000	0.19238	0.023000	0.20922	0.979000	0.57723	0.0:0.6919:0.0:0.3081	9.641	0.39002	778	0.48011	.;.;.	.	.	.	.	.	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	829.98	33	chr3	157413962	.	C	T	829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.332e+00;DP=781;ExcessHet=0.0000;FS=1.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=0.896;SOR=0.510	GT:AD:DP:GQ:PL	0/1:51,41:92:99:844,0,1288	20	0	1	0
chr3	165055221	165055221	T	G	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon13:c.A1485C:p.Q495H,	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.062	B	0.033	B	0.008	N	1.000	N	1.395	L	-2.84	D	-0.417	T	0.512	D	0.174	0.107	4.577	-2.17	0.013	-0.130	6.590	0.131	0.0706221938404	.	0.000199681	1.651e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs202203549	2.058e-06	2.052e-06	4.098e-06	0	0.0002	5.5e-07	1.5e-07	8.39e-06	3.14e-06	0	0	0	5.065e-05	0	0.0002	0	0	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	6.835e-05	2.86e-05	0	0	0	0	0.0004	0	0	0	0	0	0.031	0.45039	D	0.021	0.58089	D	0.062	0.23277	B	0.033	0.22329	B	0.007723	0.31228	N	0.349110	1	0.08975	N	1.87	0.49600	L	-2.84	0.91305	D	-1.4	0.34596	N	0.28	0.31702	-0.4169	0.71491	T	0.512	0.81661	D	10	0.07877353	0.12594	T	0.070622	0.71052	D	0.131	0.35738	0.451	0.51285	0.717204867021	0.71472	0.32240982747289976	0.32153	0.0308911193806	0.03197	0.329716086388	0.14891	T	0.301536	0.67398	T	-0.189953	0.22265	T	-0.341502	0.40174	T	0.0607203206308665	0.07282	T	0.441356	0.12220	T	0.30579627	0.53419	0.13783306	0.32935	0.30579627	0.53419	0.13783306	0.32934	-5.759	0.44215	T	0.17649837106103228	0.22524	0.147	0.32493	B	.	.	0.850487	0.12226	8.770	0.89667258479284606	0.18995	0.05353	0.11211	N	AEFI	0.110414	0.21896	N	-1.09128507563054	0.06802	0.3142079	-1.16509779583374	0.06501	0.313136	2.40352704155868E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	-2.17	0.06663	-0.632000	0.05587	-3.425000	0.02797	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3194:0.2292:0.4514	6.590	0.21839	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	325.98	33	chr3	165055221	.	T	G	325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.063e+00;DP=865;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=-1.025e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/1:23,18:41:99:340,0,537	20	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L	.	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	.	.	1.000	N	0	N	3.15	T	-0.948	T	0.016	T	0.091	1.132	9.616	.	0.119	0.856	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	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	0.2812	1276.28	7	chr3	195725265	.	C	T	1276.28	.	AC=9;AF=0.281;AN=32;BaseQRankSum=2.03;DP=174;ExcessHet=0.2102;FS=9.661;InbreedingCoeff=0.1472;MLEAC=11;MLEAF=0.344;MQ=27.87;MQRankSum=0.329;QD=17.02;ReadPosRankSum=-4.050e-01;SOR=3.729	GT:AD:DP:GQ:PL	0/1:4,4:8:75:96,0,75	9	2	5	5
chr3	195779036	195779036	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	73.76	280	chr3	195779036	.	T	*,G	73.76	.	AC=10,3;AF=0.333,0.100;AN=30;BaseQRankSum=-1.320e+00;DP=7021;ExcessHet=0.4264;FS=3.231;InbreedingCoeff=0.0544;MLEAC=13,4;MLEAF=0.433,0.133;MQ=54.24;MQRankSum=-3.656e+00;QD=0.02;ReadPosRankSum=-2.400e+00;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:179,81,4:264:99:.:.:2285,0,7535,2751,5525,7919	5	1	6	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	75722.94	215	chr3	195779882	.	G	C,*	75722.94	.	AC=18,8;AF=0.692,0.308;AN=26;BaseQRankSum=0.967;DP=4540;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5960;MLEAC=26,12;MLEAF=1.00,0.462;MQ=59.69;MQRankSum=-2.320e-01;QD=23.33;ReadPosRankSum=-5.600e-02;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,199,0:199:99:.:.:6115,594,0,6115,594,6115	0	7	0	8
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,221,0:373:99:.:.:8316,0,5653,4907,6309,10593	6	1	7	1
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,103,0:339:99:.:.:2439,0,8407,3148,8714,11862	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,258,0:384:99:.:.:9721,0,4440,10100,5194,15294	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,254,0:376:99:.:.:9605,0,4285,9972,5026,14999	3	0	14	3
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|1:342,61,0:403:99:0|1:195781128_A_T:1480,0,14061,2517,14241,16815:195781128	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|2:333,0,48:381:99:0|1:195781128_A_T:1013,2015,15960,0,13938,13808:195781128	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|2:333,0,48:381:99:0|1:195781128_A_T:1013,2015,15960,0,13938,13808:195781128	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|1:321,40,0:361:99:0|1:195781128_A_T:678,0,13328,1662,13450,15261:195781128	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	0/1:301,77,0:380:99:3756,0,11870,2957,12236,15251	7	0	12	1
chr3	195781275	195781323	GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	0	exonic	MUC4	.	.	.	.	.	0	194	26	0	6	32	0.0628019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	12425.48	492	chr3	195781275	.	GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	G,*	12425.48	.	AC=2,3;AF=0.050,0.075;AN=40;BaseQRankSum=2.28;DP=10510;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1570;MLEAC=2,3;MLEAF=0.050,0.075;MQ=58.75;MQRankSum=-3.642e+00;QD=4.35;ReadPosRankSum=0.454;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,168,0:608:99:0|1:195781256_G_C:5073,0,16983,6395,17490,23885:195781256	15	0	2	1
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	0/1:410,48,0:458:99:.:.:789,0,16849,2172,16566,19468	6	0	10	3
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:410,0,48:458:99:.:.:789,2172,19468,0,16566,16849	5	0	1	5
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	0/1:410,48,0:458:99:.:.:789,0,16849,2172,16566,19468	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	0/1:410,48,0:458:99:.:.:789,0,16849,2172,16566,19468	6	1	10	3
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:410,0,48:458:99:.:.:789,2172,19468,0,16566,16849	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:410,48,0,0:458:99:.:.:789,0,16849,2172,16566,19468,2172,16566,19468,19468	5	0	7	6
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|1:320,48,22,0:390:99:0|1:195781522_A_G:1036,0,13288,1143,12574,14747,2022,13453,14707,15564:195781522	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|1:310,48,16:374:99:0|1:195781522_A_G:1065,0,12848,1351,12321,14508:195781522	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|1:310,48,16:374:99:0|1:195781522_A_G:1065,0,12848,1351,12321,14508:195781522	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	0/2:201,48,113:362:99:.:.:4260,2734,12041,0,6310,7867	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	0|1:154,168,10:332:99:0|1:195781522_A_G:6407,0,5944,6527,6068,13976:195781522	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	0|2:159,6,168:333:99:0|1:195781522_A_G:6372,6616,13496,0,6388,6326:195781522	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	0/2:121,0,97:218:99:.:.:2298,2662,7647,0,4985,4752	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	0/2:121,0,97:218:99:.:.:2298,2662,7647,0,4985,4752	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	0/2:121,0,97:218:99:.:.:2298,2662,7647,0,4985,4752	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	0/2:121,0,97:218:99:.:.:2298,2662,7647,0,4985,4752	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	0/2:121,0,97:218:99:.:.:2298,2662,7647,0,4985,4752	6	0	1	1
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	57440.95	642	chr3	195782558	.	A	G,*	57440.95	.	AC=9,4;AF=0.300,0.133;AN=30;BaseQRankSum=-2.341e+00;DP=9169;ExcessHet=0.9330;FS=0.571;InbreedingCoeff=0.1246;MLEAC=12,5;MLEAF=0.400,0.167;MQ=56.40;MQRankSum=-5.591e+00;QD=11.79;ReadPosRankSum=1.28;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,245,0:406:99:0|1:195782558_A_G:7181,0,3914,7661,4647,12307:195782558	5	1	5	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	4722.96	605	chr3	195782572	.	A	*,G	4722.96	.	AC=4,2;AF=0.182,0.091;AN=22;BaseQRankSum=5.52;DP=8908;ExcessHet=2.2993;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=6,3;MLEAF=0.273,0.136;MQ=55.81;MQRankSum=-1.087e+01;QD=1.68;ReadPosRankSum=-9.100e-01;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:311,0,88:399:99:0|1:195782558_A_G:1890,2820,13235,0,10415,10153:195782558	5	0	4	10
chr3	195783008	195783008	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8929.47	518	chr3	195783008	.	A	G,*	8929.47	.	AC=3,5;AF=0.107,0.179;AN=28;BaseQRankSum=-9.100e-01;DP=10671;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=4,6;MLEAF=0.143,0.214;MQ=56.37;MQRankSum=-4.251e+00;QD=2.12;ReadPosRankSum=0.842;SOR=0.660	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:286,56,72:414:99:0|1:195783008_A_*:1252,0,12963,203,9411,11517:195783008	6	0	3	7
chr3	195783009	195783009	C	0	exonic	MUC4	.	.	.	.	.	474	974	47	0	27	74	0.0235589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8931.46	521	chr3	195783009	.	C	*,T	8931.46	.	AC=5,3;AF=0.179,0.107;AN=28;BaseQRankSum=-4.990e-01;DP=10668;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=7,4;MLEAF=0.250,0.143;MQ=56.37;MQRankSum=-4.434e+00;QD=2.12;ReadPosRankSum=1.05;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:287,72,56:415:99:0|1:195783008_A_*:1249,205,11569,0,9460,13009:195783008	6	0	5	7
chr3	195783071	195783119	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	430	1001	39	9	43	100	0.0276833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7527.28	575	chr3	195783071	.	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	*,T	7527.28	.	AC=4,2;AF=0.133,0.067;AN=30;BaseQRankSum=-6.540e-01;DP=9679;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.0911;MLEAC=5,3;MLEAF=0.167,0.100;MQ=57.61;MQRankSum=-9.008e+00;QD=2.31;ReadPosRankSum=2.20;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:373,127,48:548:99:.:.:705,0,17166,101,12870,16396	9	0	4	6
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	0|1:164,162,120:446:99:0|1:195783084_A_*:5963,0,7002,2503,2779,8891:195783084	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	0|1:174,163,120:457:99:0|1:195783084_A_*:5973,0,6761,2578,3089,9607:195783084	3	2	9	5
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,98,0:348:99:0|1:195783836_T_G:3377,0,10171,4129,10482,14612:195783836	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,93,0:360:99:0|1:195783836_T_G:3124,0,10880,3928,11185,15112:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:145,94,98,0,0:337:9:.:.:6627,9,6609,0,1929,5510,5702,6649,6130,12005,5702,6649,6130,12005,12005	1	1	9	3
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,158,0:428:99:0|1:195783891_G_A:5427,0,10752,6240,11228,17468:195783891	4	0	14	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:250,154,0:404:99:.:.:5588,0,9568,6339,10031,16370	2	0	15	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,155,0:344:99:0|1:195784652_C_G:5540,0,7585,6223,7963,14410:195784652	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,159,0:352:99:0|1:195784652_C_G:5668,0,7700,6349,8078,14464:195784652	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:193,126,158:477:99:0|1:195784652_C_G:5657,5721,13494,0,7413,7712:195784652	3	0	1	4
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	0|1:160,228,0:388:99:0|1:195784652_C_G:6849,0,5109,7659,5936,14962:195784652	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	1/1:1,669,0:670:99:.:.:23351,2002,0,23354,2008,23361	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	1/1:1,628,0:629:99:.:.:21993,1878,0,22895,1938,25621	0	15	5	0
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	0|1:8,8,0:16:99:0|1:195787233_T_A:311,0,308,335,332,667:195787233	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|2:9,0,7:16:99:0|1:195787233_T_A:253,280,635,0,355,334:195787233	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:127,0,37:164:99:0|1:195787508_T_C:1171,1554,6885,0,5331,5220:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:127,0,37:164:99:0|1:195787508_T_C:1171,1554,6885,0,5331,5220:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:127,0,37:164:99:0|1:195787508_T_C:1171,1554,6885,0,5331,5220:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:127,0,37:164:99:0|1:195787508_T_C:1171,1554,6885,0,5331,5220:195787508	5	1	0	6
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|2:8,0,5:13:99:0|1:195787857_T_A:186,210,546,0,336,321:195787857	6	0	1	4
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	0|1:10,5,0:15:99:0|1:195787857_T_A:180,0,370,210,385,595:195787857	4	3	6	6
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	0|2:17,0,10:27:99:0|1:195787857_T_A:342,393,1021,0,629,599:195787857	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	0/1:168,25,0:193:99:.:.:145,0,4584,649,4658,5307	6	0	7	5
chr3	196211279	196211279	C	T	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon1:c.G37A:p.E13K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.675	P	0.173	B	0.381	N	0.996	N	1.935	M	1.46	T	-1.056	T	0.068	T	0.419	2.857	15.52	3.87	1.223	1.260	8.882	0.085	0.00445066047541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866271851	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.02	0.58613	D	0.675	0.41275	P	0.173	0.35463	B	0.381000	0.13389	N	0.660654	0.996113	0.23111	N	1.75	0.45442	L	1.46	0.32238	T	-1.2	0.30555	N	0.139	0.13769	-1.0560	0.12776	T	0.068	0.27980	T	10	0.1071417	0.19888	T	0.004451	0.10906	T	0.085	0.24743	0.431	0.48007	0.0482279557977	0.04254	0.5652425204485402	0.56451	0.322246003001	0.34417	0.370652854443	0.20926	T	0.003289	0.02698	T	-0.158809	0.26943	T	-0.465895	0.25959	T	0.262571901082993	0.23427	T	0.481352	0.14557	T	0.041258603	0.06044	0.08430319	0.19382	0.041258603	0.06043	0.08430319	0.19382	-3.549	0.17125	T	.	.	0.082	0.08512	B	.	.	1.040003	0.14208	10.78	0.99595472678834862	0.73866	0.71609	0.35087	D	AEFDGBI	0.075964	0.15271	N	-0.266751713767635	0.30440	1.697355	-0.333639749818991	0.27020	1.496435	0.999960430037467	0.48965	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.75	3.87	0.43823	0.965000	0.28916	0.651000	0.20416	-0.825000	0.02924	0.296000	0.25288	0.000000	0.08366	0.005000	0.06747	0.0:0.8989:0.0:0.1011	8.882	0.34537	749	0.51929	.	.	.	.	.	.	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	932.98	49	chr3	196211279	.	C	T	932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.739e+00;SOR=0.725	GT:AD:DP:GQ:PL	0/1:45,37:82:99:947,0,1195	20	0	1	0
chr3	197019703	197019703	C	T	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_033316:exon7:c.G811A:p.G271R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.006	B	0.004	B	.	.	1.000	N	0	N	3.79	T	-0.900	T	0.006	T	0.064	1.482	10.90	1.05	0.265	-0.552	3.331	0.034	0.00203860225708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs907877398	1.026e-05	1.026e-05	8.168e-06	1.238e-05	4.472e-05	6.16e-06	4.89e-06	7.41e-06	4.55e-06	0	4.472e-05	0	0	0	0	1.079e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.79	0.03809	T	0.39	0.03521	N	0.132	0.12770	-0.8999	0.48003	T	0.006	0.02168	T	9	0.07609102	0.11842	T	0.002039	0.03721	T	0.034	0.08419	0.498	0.58835	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.476048	0.00780	T	-0.745739	0.03655	T	0.0274792284956587	0.01613	T	0.417158	0.10968	T	.	.	.	.	.	.	.	.	-3.568	0.17395	T	.	.	0.125	0.26388	B	.	.	0.070618	0.04792	1.403	0.91123755297199227	0.20377	0.02348	0.06703	N	AEFBI	0.054567	0.09932	N	-1.22301137903879	0.04668	0.2111566	-1.23989912769164	0.05283	0.2513143	0.110330126263892	0.16630	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.620976	0.48614	0	.	.	2.96	1.05	0.19280	-0.528000	0.06280	0.279000	0.16745	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2554:0.6024:0.0:0.1421	3.331	0.06669	677	0.60274	.	.	.	.	.	.	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	878.98	34	chr3	197019703	.	C	T	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.260e-01;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=-1.210e-01;SOR=0.763	GT:AD:DP:GQ:PL	0/1:56,39:95:99:893,0,1394	20	0	1	0
chr4	443773	443773	G	A	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.C694T:p.H232Y,	.	.	402	1118	2	0	0	2	0.000893655	.	.	2364021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.076	B	0.031	B	.	.	1.000	N	0.4	N	3.29	T	-0.899	T	0.010	T	0.074	-1.313	0.035	0.349	-0.118	-6.419	5.573	0.005	0.000634465812214	0.0002	0.000399361	0.0007	0.0002	0.0012	0	0.0005	0.0010	0	0.0002	0.0006533	101	154602	rs200907568	0.0006	0.0006	0.0006	0.0007	0.0043	0.0006	0.0006	0.0030	0.0026	0.0003	0.0012	0.0039	0	0.0004	0.0043	0.0006	0.0011	0.0002	0.0006	0.0006	0.0007	0.0004	0.0012	0.0005	0.0004	0.0008	0.0007	7.232e-05	0	0.0012	0.0049	0	0.0004	0.0102	0.0006	0.0010	0	0.95	0.02146	T	0.553	0.09329	T	0.076	0.24253	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	3.29	0.06445	T	-0.53	0.16598	N	0.157	0.29313	-0.8988	0.48115	T	0.010	0.03537	T	9	0.009424478	0.00213	T	6.34E-4	0.00319	T	0.005	0.00259	.	.	0.0401082797425	0.02173	0.0051104171182992176	0.00482	0.0152685826195	0.01452	0.33679831028	0.15957	T	3.74E-4	0.00113	T	-0.669392	0.00055	T	-0.805798	0.01762	T	0.0026587422027729	0.00028	T	0.0683932	0.00498	T	0.016760569	0.00220	0.026666738	0.00768	0.016760569	0.00220	0.026666738	0.00768	-5.609	0.42874	T	.	.	0.095	0.17317	B	.;.	.;.	-0.957051	0.00835	0.028	0.22323602717531357	0.00892	0.00000	0.00017	N	AEFDBHCI	0.023901	0.01398	N	-1.71615433637951	0.00786	0.03395638	-1.7829476745723	0.00815	0.03639876	0.0167396678200236	0.12866	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.29	0.349	0.15269	-2.952000	0.00742	.	.	-0.396000	0.05320	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2107:0.0:0.7893:0.0	5.573	0.16490	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1697.98	105	chr4	443773	.	G	A	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=999;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-5.470e-01;SOR=0.832	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1712,0,1539	20	0	1	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	0/5:9,0,0,0,0,18,0:27:99:.:.:691,761,1394,761,1394,1394,761,1394,1394,1394,761,1394,1394,1394,1394,0,624,624,624,624,767,761,1394,1394,1394,1394,624,1394	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	0/5:9,0,0,0,0,18,0:27:99:.:.:691,761,1394,761,1394,1394,761,1394,1394,1394,761,1394,1394,1394,1394,0,624,624,624,624,767,761,1394,1394,1394,1394,624,1394	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	0/5:9,0,0,0,0,18,0:27:99:.:.:691,761,1394,761,1394,1394,761,1394,1394,1394,761,1394,1394,1394,1394,0,624,624,624,624,767,761,1394,1394,1394,1394,624,1394	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	0/5:9,0,0,0,0,18,0:27:99:.:.:691,761,1394,761,1394,1394,761,1394,1394,1394,761,1394,1394,1394,1394,0,624,624,624,624,767,761,1394,1394,1394,1394,624,1394	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	0/5:9,0,0,0,0,18,0:27:99:.:.:691,761,1394,761,1394,1394,761,1394,1394,1394,761,1394,1394,1394,1394,0,624,624,624,624,767,761,1394,1394,1394,1394,624,1394	3	1	1	0
chr4	3074923	3074925	AGC	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1002.47	26	chr4	3074923	.	AGC	A,*	1002.47	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.00;DP=1062;ExcessHet=1.1607;FS=3.015;InbreedingCoeff=-0.1290;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=5.28;ReadPosRankSum=3.05;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,9,0:31:99:0|1:3074923_AGC_A:311,0,877,378,904,1282:3074923	16	0	2	0
chr4	3074926	3074930	AGCAG	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	0	201	8	1	16	26	0.0242718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	996.46	26	chr4	3074926	.	AGCAG	A,ACAG,*	996.46	.	AC=1,1,3;AF=0.024,0.024,0.071;AN=42;BaseQRankSum=-1.289e+00;DP=1053;ExcessHet=1.1607;FS=3.015;InbreedingCoeff=-0.1290;MLEAC=1,1,2;MLEAF=0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.24;ReadPosRankSum=3.07;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:22,0,9,0:31:99:0|1:3074923_AGC_A:311,378,1282,0,904,877,378,1282,904,1282:3074923	16	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	957.88	16	chr4	3074927	.	G	GCAA,*	957.88	.	AC=3,5;AF=0.071,0.119;AN=42;BaseQRankSum=-8.410e-01;DP=1050;ExcessHet=0.5418;FS=3.188;InbreedingCoeff=0.0867;MLEAC=3,4;MLEAF=0.071,0.095;MQ=59.47;MQRankSum=2.60;QD=4.01;ReadPosRankSum=3.51;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:22,0,9:31:99:0|1:3074923_AGC_A:311,378,1282,0,904,877:3074923	14	0	2	0
chr4	4315944	4315944	A	C	exonic	ZBTB49	.	nonsynonymous SNV	ZBTB49:NM_001330625:exon7:c.A1595C:p.E532A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.005	N	1.000	D	2.09	M	1.66	T	-0.854	T	0.167	T	0.446	4.478	24.0	4.38	0.959	7.062	11.156	0.281	0.0295891861205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.999	0.77913	D	0.99	0.78936	D	0.005497	0.32753	N	0.212294	0.999994	0.81001	D	1.01	0.25309	L	1.66	0.27486	T	-4.57	0.78721	D	0.387	0.42834	-0.8538	0.51703	T	0.167	0.50567	T	10	0.37761143	0.53951	T	0.029589	0.52069	D	0.281	0.59861	0.398	0.42590	0.582138334438	0.57886	0.3645971436726242	0.36373	0.660971587601	0.58894	0.760999679565	0.76077	T	0.149647	0.48874	T	-0.0474172	0.44840	T	-0.305888	0.44100	T	0.997125685214996	0.90826	D	0.815918	0.47089	T	0.40837026	0.61308	0.31128767	0.57136	0.40837026	0.61308	0.31128767	0.57135	-13.145	0.89951	D	.	.	0.703	0.73099	P	.	.	4.281146	0.65215	24.8	0.99711601250943294	0.81353	0.98966	0.89286	D	AEFDGBI	0.758124	0.69687	D	0.614540166275983	0.74094	6.074582	0.576037335329102	0.73226	5.935941	0.999999687996599	0.74766	0.740787	0.97801	0	0.546412	0.12157	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.56	4.38	0.52019	7.299000	0.78160	6.873000	0.56793	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9281:0.0:0.0719:0.0	11.156	0.47717	862	0.33134	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	0.02381	595.98	27	chr4	4315944	.	A	C	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.401e+00;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-5.310e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/1:26,23:49:99:610,0,815	20	0	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	0/1:101,29:130:99:147,0,2373	0	0	21	0
chr4	8302499	8302499	C	T	exonic	HTRA3	.	nonsynonymous SNV	HTRA3:NM_053044:exon7:c.C1088T:p.T363M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.977	D	0.000	D	1.000	D	3.165	M	2.0	T	-0.620	T	0.174	T	0.761	3.414	17.54	3.68	1.619	5.721	13.215	0.381	.	7.7e-05	0.000798722	0.0005	9.617e-05	0	0	0	0.0002	0	0.0029	0.0004269	66	154602	rs377229386	0.0002	0.0002	0.0001	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	0	0	0	2.519e-05	0	0	2.428e-05	0.0002	0.0037	0.0001	0.0001	6.426e-05	0.0002	0.0035	9.147e-05	7.703e-05	0.0022	0.0018	4.816e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0035	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	2.0	0.21473	T	-3.3	0.65858	D	0.776	0.77319	-0.6203	0.63976	T	0.174	0.51753	T	10	0.08578205	0.14516	T	.	.	.	0.381	0.69863	.	.	0.563505421885	0.56014	0.7886034251372002	0.78812	0.888811034104	0.70124	0.724115729332	0.70647	T	0.259794	0.63110	T	-0.244935	0.14726	T	-0.128287	0.61115	T	0.50348162651062	0.32757	D	0.885811	0.61165	D	0.4126436	0.61599	0.3445055	0.60147	0.4126436	0.61599	0.3445055	0.60146	-9.681	0.71980	D	.	.	0.249	0.48417	B	.	.	4.848548	0.79229	27.1	0.99894585086333076	0.96819	0.95365	0.64436	D	AEFDBI	0.812407	0.73515	D	0.63778480094902	0.75580	6.331206	0.501348175916973	0.68081	5.171142	0.999999999965697	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.68	3.68	0.41359	6.144000	0.71525	7.352000	0.58300	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:1.0:0.0:0.0	13.215	0.59277	988	0.01987	PDZ domain|PDZ 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	1604.98	35	chr4	8302499	.	C	T	1604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=947;ExcessHet=0.0000;FS=1.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=-4.960e-01;SOR=0.837	GT:AD:DP:GQ:PL	0/1:98,69:167:99:1619,0,2410	20	0	1	0
chr4	9248848	9248848	G	C	exonic	USP17L11;USP17L18	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.G219C:p.R73S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.342	B	0.057	B	0.234	N	1.000	N	0.345	N	2.69	T	-1.003	T	0.020	T	0.122	0.762	8.034	-0.739	-0.750	0.184	5.486	0.033	0.00156763815977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.353e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.604e-06	1.314e-05	0	1.353e-05	6.581e-05	0	0	.	.	0	0	6.581e-05	0	0	0	0	0	0	0	0.201	0.20306	T	0.118	0.36233	T	0.342	0.33490	B	0.057	0.26280	B	0.234436	0.03540	N	1.715750	1	0.08975	N	0.55	0.14455	N	2.69	0.12268	T	-0.88	0.23808	N	0.055	0.02658	-1.0032	0.28992	T	0.020	0.08593	T	10	0.056633443	0.06380	T	0.001568	0.02497	T	0.033	0.08068	0.397	0.42426	0.0482279557977	0.04254	0.04217937031283907	0.04162	.	.	0.554081678391	0.46432	T	0.013839	0.11891	T	-0.317671	0.07090	T	-0.694089	0.06155	T	0.0898734703660011	0.11203	T	0.694731	0.30434	T	0.09141517	0.21421	0.07284794	0.15764	0.09141517	0.21420	0.07284794	0.15763	-5.97	0.46028	T	.	.	0.160	0.35456	B	.;.	.;.	1.563910	0.20031	14.55	0.91703446166957425	0.20998	0.00112	0.00708	N	AEFI	0.021880	0.01028	N	-1.06731250889533	0.07252	0.3363253	-1.19177051066268	0.06047	0.2898772	1.46787719424772E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.739	0.10560	1.028000	0.29734	.	.	0.297000	0.18867	0.002000	0.15269	0.000000	0.08366	0.301000	0.24523	0.0:0.6432:0.3567:1.0E-4	5.486	0.16042	.	.	.;.	.	.	.	.	.	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	81.98	46	chr4	9248848	.	G	C	81.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.09;DP=1803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=20.44;MQRankSum=-8.030e-01;QD=0.69;ReadPosRankSum=0.752;SOR=0.035	GT:AD:DP:GQ:PL	0/1:100,18:118:96:96,0,2163	20	0	1	0
chr4	10087915	10087915	T	C	exonic	WDR1	.	nonsynonymous SNV	WDR1:NM_005112:exon5:c.A323G:p.H108R	.	.	425	1049	46	2	0	50	0.0232775	.	.	1154593	not_provided|Lazy_leukocyte_syndrome	MedGen:C3661900|MONDO:MONDO:0007883,MedGen:C0272174,OMIM:150550,Orphanet:652522	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.41	T	0.001	B	0.002	B	0.000	N	0.991	D	-0.245	N	0.23	T	-1.086	T	0.060	T	0.226	1.471	10.87	4.46	0.969	4.651	10.835	0.067	.	0.0048	0.00678914	0.0124	0.0022	0.0056	0	0.0167	0.0109	0.02	0.0185	0.0050452	780	154602	rs41268387	0.0070	0.0070	0.0066	0.0075	0.0216	0.0069	0.0069	0.0185	0.0173	0.0010	0.0034	0.0088	0.0001	0.0166	0.0216	0.0063	0.0064	0.0167	0.0053	0.0053	0.0048	0.0057	0.0168	0.0050	0.0048	0.0138	0.0127	0.0013	0	0.0035	0.0098	0.0010	0.0168	0.0204	0.0056	0.0047	0.0168	0.817	0.08534	T	0.554	0.24334	T	0.0	0.07471	B	0.002	0.06944	B	0.000190	0.48115	N	0.182612	0.99051	0.41175	D	0.09	0.08384	N	0.23	0.59717	T	0.92	0.05125	N	0.361	0.40565	-1.0858	0.06263	T	0.060	0.25237	T	10	0.0067503154	0.00153	T	.	.	.	0.067	0.19503	.	.	0.218628672733	0.21463	0.31849216096257105	0.31762	0.507810000154	0.48961	0.509267151356	0.40119	T	0.076434	0.35419	T	-0.45722	0.01023	T	-0.415916	0.31544	T	0.00694049655315045	0.00079	T	0.781022	0.45098	T	0.114508115	0.27032	0.09213647	0.21697	0.114508115	0.27032	0.09213647	0.21697	-5.521	0.42064	T	.	.	0.081	0.15430	B	.;.;.;.	.;.;.;.	2.535099	0.32784	19.15	0.91713494636780124	0.21009	0.95272	0.64079	D	AEFBCI	0.666365	0.63485	D	-0.392156960646774	0.25748	1.400014	-0.167274809422776	0.32748	1.866268	0.999999980427769	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.64	4.46	0.53567	4.560000	0.60512	2.236000	0.31572	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.0:0.074:0.0:0.926	10.835	0.45886	784	0.47045	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5643.08	36	chr4	10087915	.	T	C	5643.08	.	AC=2;AF=0.048;AN=42;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.09;SOR=0.944	GT:AD:DP:GQ:PL	1/1:0,194:194:99:5671,582,0	20	1	0	0
chr4	36339145	36339146	AA	-	exonic	DTHD1	.	frameshift deletion	DTHD1:NM_001136536:exon8:c.1504_1505del:p.R503Sfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.433e-06	1.368e-06	0	2.905e-06	2.534e-05	2.4e-07	9e-08	4.21e-06	1.57e-06	0	0	0	0	0	0	0	0	2.534e-05	6.575e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6306.05	36	chr4	36339144	.	CAA	C	6306.05	.	AC=2;AF=0.048;AN=42;DP=1100;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.43;SOR=0.956	GT:AD:DP:GQ:PL	1/1:0,143:143:99:6334,431,0	20	1	0	0
chr4	38827466	38827466	-	TA	exonic	TLR6	.	frameshift insertion	TLR6:NM_006068:exon2:c.2007_2008insTA:p.Q670Yfs*63,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	5.767e-05	0.0005	0.0002	0	0	0	0	0	4.53e-05	7	154602	rs760930964	3.078e-05	3.078e-05	2.995e-05	3.163e-05	0.0012	2.347e-05	2.095e-05	0.0009	0.0008	0.0012	2.236e-05	0	0	0	0.0002	0	4.967e-05	1.159e-05	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	6.546e-05	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5949.05	92	chr4	38827466	.	G	GTA	5949.05	.	AC=2;AF=0.048;AN=42;DP=1015;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.12;SOR=0.707	GT:AD:DP:GQ:PL	1/1:0,143:143:99:5977,430,0	20	1	0	0
chr4	39268001	39268001	A	C	exonic	WDR19	.	nonsynonymous SNV	WDR19:NM_001317924:exon29:c.A2788C:p.K930Q	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	698516	Senior-Loken_syndrome_8|Asphyxiating_thoracic_dystrophy_5	MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156|MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.38	B	0.087	B	0.000	D	1.000	D	2.67	M	-0.19	T	-0.536	T	0.264	T	0.735	3.702	18.80	5.21	1.960	9.022	15.083	0.367	0.0308754207767	0.0011	0.000599042	0.0005	0.0046	0.0007	0	0	3.892e-05	0	0	0.0002458	38	154602	rs147302274	8.692e-05	8.824e-05	0.0001	5.836e-05	0.0024	7.415e-05	6.961e-05	0.0020	0.0018	0.0024	0.0003	0	0	0	0.0007	8.138e-06	0.0003	3.587e-05	0.0010	0.0011	0.0011	0.0010	0.0036	0.0009	0.0009	0.0031	0.0029	0.0036	0	0.0003	0	0	0	0	8.821e-05	0	0	0.009	0.57480	D	0.017	0.60337	D	0.38	0.34363	B	0.087	0.29615	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.46	0.71463	M	-0.19	0.65931	T	-2.5	0.54382	D	0.657	0.66700	-0.5359	0.67319	T	0.264	0.63534	T	10	0.017853022	0.00384	T	0.030875	0.53091	D	0.367	0.68670	.	.	0.774502914159	0.77242	0.5853813225607856	0.58467	0.244669740564	0.26975	0.671730279922	0.63084	T	0.520733	0.83234	D	-0.152807	0.27874	T	0.00467629	0.70639	D	0.0882366437244235	0.11006	T	0.912209	0.68770	D	0.4635574	0.64892	0.34530306	0.60215	0.4635574	0.64893	0.34530306	0.60215	-8.923	0.67200	D	.	.	0.212	0.44069	B	.	.	3.900595	0.56818	23.8	0.99262541874016796	0.57255	0.98947	0.89017	D	AEFDBI	0.871505	0.79294	D	0.376489887698926	0.60149	4.200915	0.464221042923314	0.65636	4.848751	0.999999990529229	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	9.010000	0.93142	11.219000	0.89698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.083	0.71797	388	0.83355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2989.08	35	chr4	39268001	.	A	C	2989.08	.	AC=2;AF=0.048;AN=42;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.59;SOR=0.753	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3017,303,0	20	1	0	0
chr4	39447053	39447055	TCT	-	exonic	KLB	.	nonframeshift deletion	KLB:NM_175737:exon4:c.2327_2329del:p.F777del,	.	.	412	1108	2	0	0	2	0.000901713	.	.	589202	not_provided|KLB-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.00139776	0.0023	0.0009	0.0013	0	0.0002	0.0037	0	0.0002	0.0005763	15	26028	rs549659598	0.0059	0.0059	0.0062	0.0055	0.0073	0.0058	0.0057	0.0071	0.0071	0.0007	0.0015	0.0029	0	0.0004	0.0002	0.0073	0.0048	0.0002	0.0031	0.0031	0.0037	0.0025	0.0056	0.0029	0.0028	0.0052	0.0050	0.0013	0	0.0016	0.0029	0	9.413e-05	0	0.0056	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4407.05	38	chr4	39447052	.	CTCT	C	4407.05	.	AC=2;AF=0.048;AN=42;DP=912;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.60;SOR=0.713	GT:AD:DP:GQ:PL	1/1:0,99:99:99:4435,298,0	20	1	0	0
chr4	46041205	46041205	A	G	exonic	GABRG1	.	nonsynonymous SNV	GABRG1:NM_173536:exon9:c.T1181C:p.I394T,	.	.	416	1098	8	0	0	8	0.00362976	.	.	2301097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.129	B	0.071	B	0.013	N	1.000	N	0.55	N	-1.75	D	-0.843	T	0.299	T	0.15	-1.267	0.046	4.28	0.899	1.672	7.902	0.134	0.0391511694492	0.0005	0.000199681	0.0006	9.8e-05	0.0004	0	0	0.0010	0.0011	0	0.0001035	16	154602	rs149632298	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	2.992e-05	0.0005	0.0087	0	0	0.0017	0.0003	0.0010	5.798e-05	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0004	0.0003	0.0001	0	0.0007	0.0095	0	0	0.0034	0.0004	0.0014	0	0.474	0.08384	T	0.488	0.11621	T	0.129	0.27048	B	0.071	0.27960	B	0.012528	0.29142	N	0.399125	1	0.08975	N	1.245	0.31408	L	-1.75	0.83495	D	-0.1	0.08495	N	0.075	0.04913	-0.8426	0.52473	T	0.299	0.67036	T	10	0.0060000718	0.00135	T	0.039151	0.58640	D	0.134	0.36365	.	.	0.701312467069	0.69872	0.3620877995437546	0.36122	0.163159783007	0.18410	0.443791747093	0.31094	T	0.012746	0.11148	T	-0.336539	0.05632	T	-0.36261	0.37750	T	0.0368895156013577	0.03137	T	0.773323	0.40460	T	0.06268956	0.13121	0.07037647	0.14946	0.06268956	0.13120	0.07037647	0.14945	-4.126	0.25672	T	.	.	0.149	0.32851	B	.	.	1.434764	0.18534	13.79	0.28744069994211219	0.01491	0.06429	0.12434	N	AEI	0.097066	0.19584	N	-0.776771555542693	0.13917	0.6891687	-0.739253547129441	0.15986	0.8435446	1.78531025203102E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.46	4.28	0.50183	1.606000	0.36437	7.743000	0.68032	0.691000	0.84096	0.002000	0.15269	1.000000	0.68203	0.037000	0.13953	0.8407:0.0:0.1593:0.0	7.902	0.28902	693	0.58582	.	.	.	.	.	.	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	1270.11	35	chr4	46041205	.	A	G	1270.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.170;DP=802;ExcessHet=0.1072;FS=1.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-1.173e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/1:57,28:85:99:559,0,1413	19	0	2	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.500	N	1.000	N	0.11	N	-1.0	T	-0.935	T	0.210	T	0.088	-2.061	0.006	-1.83	-0.366	-0.114	13.716	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	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	1	0	0	0	0.1667	733.66	116	chr4	53145477	.	T	C	733.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.026e+00;DP=1805;ExcessHet=2.5830;FS=148.015;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=0.708;SOR=11.035	GT:AD:DP:GQ:PL	0/1:90,23:113:89:89,0,2166	14	0	7	0
chr4	67931993	67931993	G	A	exonic	TMPRSS11A	.	nonsynonymous SNV	TMPRSS11A:NM_001114387:exon4:c.C320T:p.T107I	.	.	429	1088	5	0	0	5	0.00229253	0.0175	0.194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	B	0.101	B	0.000	D	0.798	D	2.2	M	1.05	T	-0.909	T	0.106	T	0.323	2.298	13.64	4.37	0.903	1.525	9.472	0.127	0.0182138175605	7.7e-05	.	0.0005	0	0.0002	0	0	7.509e-05	0.0022	0.0030	0.0003881	60	154602	rs151094571	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0002	0.0028	0.0027	0	8.969e-05	0	2.527e-05	1.878e-05	0.0007	0.0001	0.0001	0.0031	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	4.819e-05	0.0121	0	0	0	9.47e-05	0	0.0002	0	0.0021	0.054	0.38633	T	0.053	0.48080	T	.	.	.	.	.	.	0.000018	0.62929	D	0.000000	0.798486	0.34479	D	.	.	.	1.05	0.39990	T	-3.01	0.64478	D	0.47	0.50598	-0.9094	0.46928	T	0.106	0.38636	T	9	0.012391746	0.00266	T	0.018214	0.40197	T	0.127	0.34888	.	.	0.431712495121	0.42787	0.3987622539140241	0.39791	0.128422897595	0.14478	0.491270422935	0.37615	T	.	.	.	-0.460983	0.00969	T	-0.438311	0.28997	T	0.126962312563578	0.15098	T	0.525248	0.17252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.;.;.	.;.;.	2.358701	0.30252	18.38	0.9958055083326286	0.72980	0.70469	0.34603	D	AEFBI	0.194504	0.32159	N	0.0800884749148915	0.45534	2.808366	0.165303739972639	0.47958	3.018427	0.634030320901188	0.21994	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.08	4.37	0.51830	1.616000	0.36543	0.628000	0.20199	-0.105000	0.15698	1.000000	0.71638	0.997000	0.33255	0.919000	0.45453	0.1625:0.0:0.8375:0.0	9.472	0.38009	797	0.45241	.;SEA domain|SEA domain;SEA domain|SEA 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	1267.98	33	chr4	67931993	.	G	A	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.590;DP=773;ExcessHet=0.0000;FS=1.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=1.33;SOR=0.587	GT:AD:DP:GQ:PL	0/1:35,53:88:99:1282,0,765	20	0	1	0
chr4	68068744	68068744	C	T	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon7:c.G629A:p.R210K,	.	.	340	1171	11	0	0	11	0.00467488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.047	B	0.061	B	0.004	N	1.000	N	-0.655	N	-2.36	D	-0.814	T	0.210	T	0.312	-0.320	2.478	3.1	0.807	0.138	3.419	0.181	.	0.0011	0.00359425	0.0028	0	0.0002	0	0	0.0019	0.0044	0.0123	0.0026002	402	154602	rs146652094	0.0026	0.0026	0.0023	0.0028	0.0118	0.0025	0.0025	0.0112	0.0109	0.0002	0.0002	3.826e-05	2.519e-05	0.0003	0.0033	0.0023	0.0023	0.0118	0.0016	0.0016	0.0016	0.0016	0.0101	0.0014	0.0014	0.0079	0.0071	0.0004	0.0121	0.0003	0	0	0.0002	0	0.0023	0.0014	0.0101	0.972	0.02043	T	0.36	0.16964	T	0.047	0.21998	B	0.061	0.26820	B	0.003580	0.34767	N	0.197117	1	0.08975	N	0.46	0.12951	N	-2.36	0.88143	D	-0.43	0.14390	N	0.232	0.26111	-0.8141	0.54300	T	0.210	0.57041	T	10	0.005112022	0.00111	T	.	.	.	0.181	0.45247	.	.	0.617224619168	0.61412	0.560962303913896	0.56023	0.123739431826	0.13926	0.320051193237	0.13429	T	0.117911	0.43834	T	-0.361966	0.04020	T	-0.281685	0.46630	T	0.00811350242353398	0.00097	T	0.30297	0.05734	T	0.066040516	0.14171	0.05269963	0.08732	0.066040516	0.14170	0.05269963	0.08731	-3.159	0.11986	T	.	.	0.073	0.04558	B	.	.	1.184490	0.15755	12.08	0.58894590845279449	0.06098	0.04668	0.10345	N	AEFDI	0.093650	0.18946	N	-0.85174137210942	0.12007	0.5827035	-0.687720839081708	0.17268	0.9173849	0.0704932711147111	0.15530	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	3.1	0.34780	0.974000	0.29033	.	.	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.932000	0.46971	0.1526:0.5352:0.2178:0.0944	3.419	0.06960	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1320.98	34	chr4	68068744	.	C	T	1320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.167;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-4.500e-02;SOR=0.650	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1335,0,1108	20	0	1	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	1|2:0,10,7:17:99:0|1:87615730_ATAG_A:1252,307,231,453,0,437:87615730	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	1|2:0,10,7:17:99:0|1:87615730_ATAG_A:1236,306,438,439,0,463:87615730	0	2	2	0
chr4	99141663	99141663	C	T	exonic	ADH4	.	nonsynonymous SNV	ADH4:NM_000670:exon3:c.G140A:p.C47Y	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	5.125	H	0.78	T	0.639	D	0.555	D	0.979	4.128	21.3	4.01	2.228	4.605	16.713	0.595	0.0420887837377	0.0002	0.000399361	0.0003	0	0	0	0	0.0005	0.0011	0.0001	0.0003558	55	154602	rs61734620	0.0004	0.0004	0.0004	0.0004	0.0009	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	7.659e-05	0	0	0.0009	0.0005	0.0004	0.0003	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0001	0	0	0	0	0.0007	0.0009	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.225	0.97935	H	0.78	0.49358	T	-10.2	0.99005	D	0.81	0.85554	0.639	0.92407	D	0.555	0.83729	D	10	0.8964087	0.88995	D	0.042089	0.60276	D	0.595	0.83911	.	.	0.893372886602	0.89232	0.8615769767913727	0.86121	0.338207714323	0.35799	0.710891723633	0.68722	T	0.338332	0.70761	T	0.0217789	0.54622	T	0.164593	0.81085	D	0.967545092105865	0.67944	D	0.993421	0.98113	D	0.9687103	0.98139	0.9139523	0.95970	0.9687103	0.98139	0.9139523	0.95970	-8.52	0.65504	D	.	.	0.983	0.91683	P	.;.;.;.;.;.	.;.;.;.;.;.	3.967556	0.58234	24.0	0.99116997418320396	0.52880	0.91156	0.52970	D	AEFBCI	0.887588	0.81996	D	0.842981407116138	0.88705	9.679801	0.620033471494984	0.76397	6.483289	0.999999997280766	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.01	4.01	0.45821	4.822000	0.62377	4.802000	0.44976	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.507000	0.29175	0.0:1.0:0.0:0.0	16.713	0.85248	762	0.50290	.;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;.;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	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	665.98	34	chr4	99141663	.	C	T	665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.402e+00;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-7.400e-01;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,28:53:99:0|1:99141663_C_T:680,0,703:99141663	20	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:80,37:141:99:103,0,1288	2	0	18	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	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	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,30:93:99:.:.:104,0,873	4	0	16	1
chr4	109684611	109684611	A	G	exonic	MCUB	.	nonsynonymous SNV	MCUB:NM_017918:exon6:c.A781G:p.M261V,	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.859	P	0.609	P	0.000	N	0.999	D	2.335	M	1.43	T	-1.062	T	0.065	T	0.387	3.284	17.03	4.4	0.945	4.229	11.184	0.103	0.0106443592674	0.0012	0.00159744	0.0009	0.0006	0.0013	0	0	0.0010	0	0.0008	0.0008279	128	154602	rs79405119	0.0008	0.0008	0.0007	0.0008	0.0018	0.0007	0.0007	0.0010	0.0008	0.0007	0.0011	0.0005	0	0.0001	0.0018	0.0008	0.0010	0.0008	0.0008	0.0008	0.0007	0.0008	0.0018	0.0006	0.0006	0.0012	0.0011	0.0005	0	0.0018	0.0014	0.0002	0	0	0.0008	0.0009	0.0008	0.005	0.63226	D	0.072	0.43344	T	0.859	0.47319	P	0.609	0.51053	P	0.000019	0.62929	N	0.187833	0.998717	0.45323	D	2.19	0.61577	M	1.43	0.32958	T	-3.11	0.63669	D	0.347	0.38848	-1.0618	0.11312	T	0.065	0.27017	T	10	0.011704028	0.00255	T	0.010644	0.27409	T	0.103	0.29403	.	.	0.455173453901	0.45141	0.7485670205813343	0.74802	0.118582671518	0.13357	0.423137962818	0.28268	T	0.022555	0.17371	T	-0.37082	0.03553	T	-0.355874	0.38531	T	0.0402197153895296	0.03731	T	0.680032	0.28847	T	0.4717879	0.65400	0.48925057	0.70447	0.4717879	0.65400	0.48925057	0.70448	-9.16	0.68721	D	.	.	0.111	0.21503	B	.	.	3.632068	0.51459	23.1	0.98747373813244066	0.45602	0.96388	0.68895	D	AEFBI	0.729070	0.67690	D	0.402176006907151	0.61542	4.356761	0.401422910756283	0.61652	4.368507	0.985384455933843	0.30878	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.57	4.4	0.52402	4.222000	0.58378	7.960000	0.76000	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.9283:0.0:0.0717:0.0	11.184	0.47871	906	0.23090	Calcium uniporter protein, 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	1180.98	36	chr4	109684611	.	A	G	1180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=827;ExcessHet=0.0000;FS=3.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=0.787;SOR=1.183	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1195,0,912	20	0	1	0
chr4	109867776	109867776	T	C	exonic	LRIT3	.	nonsynonymous SNV	LRIT3:NM_198506:exon3:c.T725C:p.L242S,	Night blindness, congenital stationary (complete), 1F, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	943738	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.128	B	0.067	B	0.732	N	1.000	N	0.77	N	0.7	T	-0.974	T	0.102	T	0.08	1.161	9.724	-11.5	-1.870	-0.049	19.958	0.110	0.0429668487042	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs749730956	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0009	1.048e-05	8.75e-06	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	1.529e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.414	0.14369	T	.	.	.	.	.	.	0.731945	0.06375	N	1.132580	1	0.08975	N	1.46	0.36832	L	0.7	0.56937	T	-1.67	0.39887	N	0.218	0.24385	-0.9742	0.36301	T	0.102	0.37718	T	10	0.06643906	0.09113	T	0.042967	0.60739	D	0.110	0.31079	.	.	0.110078149338	0.10416	0.6324083173412606	0.63174	0.0596258916329	0.06628	0.286824285984	0.08462	T	0.009662	0.08780	T	-0.321632	0.06765	T	-0.616913	0.11429	T	0.0397407950480442	0.03644	T	0.566943	0.20077	T	0.06923224	0.15152	0.17727186	0.40318	0.06923224	0.15151	0.17727186	0.40318	-7.067	0.54522	T	.	.	0.090	0.17060	B	.;.	.;.	-0.725884	0.01262	0.066	0.76866286182804933	0.11641	0.08003	0.13983	N	AEFI	0.105443	0.21067	N	-1.51565343222763	0.01746	0.07646881	-1.64430755940914	0.01405	0.06353385	0.996098717036343	0.34520	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.88	-11.5	0.00057	-0.053000	0.11802	-4.860000	0.01953	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.576000	0.30797	0.0:0.6251:0.0:0.3749	19.958	0.97233	801	0.44448	.;.	.	.	.	.	.	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	1886.98	33	chr4	109867776	.	T	C	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=880;ExcessHet=0.0000;FS=2.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.22;SOR=0.970	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1901,0,2101	20	0	1	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.82	P	0.035	N	0.786	D	2.015	M	0.48	T	-0.407	T	0.243	T	0.062	4.042	20.7	3.71	1.263	1.359	9.652	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	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	0.1923	286.74	129	chr4	119271801	.	G	C	286.74	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.983e+00;DP=2647;ExcessHet=1.1607;FS=242.086;InbreedingCoeff=-0.2765;MLEAC=7;MLEAF=0.269;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=1.51;SOR=10.248	GT:AD:DP:GQ:PL	0/1:86,20:126:9:9,0,1917	8	0	5	8
chr4	123256160	123256160	G	T	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001345856:exon15:c.G2482T:p.D828Y	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	.	434	1061	26	1	0	28	0.0130233	.	.	428275	Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome|not_provided|not_specified	MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.489	P	0.313	B	0.002	N	0.784	N	1.615	L	-3.57	D	0.242	D	0.638	D	0.596	0.355	5.928	3.08	0.608	1.687	15.582	0.512	.	0.0042	0.0071885	0.0102	0.0021	0.0492	0.0030	0.0023	0.0069	0.0066	0.0086	0.0094759	1465	154602	rs35206443	0.0078	0.0078	0.0080	0.0077	0.0420	0.0077	0.0077	0.0404	0.0397	0.0019	0.0420	0.0084	0.0025	0.0029	0.0198	0.0069	0.0080	0.0091	0.0063	0.0063	0.0065	0.0061	0.0186	0.0060	0.0059	0.0168	0.0161	0.0024	0	0.0186	0.0072	0.0042	0.0027	0.0442	0.0062	0.0118	0.0083	0.001	0.78490	D	0.003	0.76473	D	0.489	0.36925	P	0.313	0.41496	B	0.002152	0.37138	N	0.163302	0.783887	0.29302	N	.	.	.	-3.57	0.94904	D	-5.03	0.82575	D	0.665	0.67391	0.242	0.86605	D	0.638	0.87336	D	10	0.0061918497	0.00139	T	.	.	.	0.512	0.79094	.	.	.	.	0.5655072548150628	0.56477	0.347071527529	0.36602	0.335899531841	0.15823	T	0.229589	0.59544	T	-0.155933	0.27387	T	0.0360934	0.72673	D	0.0574242337123736	0.06757	T	0.956304	0.83415	D	0.71545744	0.78909	0.61800754	0.77756	0.71545744	0.78911	0.61800754	0.77757	-8.504	0.64456	D	0.38576921051272656	0.47959	0.115	0.23005	B	.	.	2.707522	0.35383	19.88	0.81853234395700014	0.13893	0.69723	0.34301	D	AEFDBI	0.118458	0.23162	N	-0.283515088858939	0.29784	1.654859	-0.341584590906976	0.26770	1.480833	0.444252778732634	0.20480	0.693126	0.56070	0	0.633656	0.55848	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	4.87	3.08	0.34576	1.284000	0.32855	6.572000	0.55971	0.676000	0.76740	0.930000	0.32276	1.000000	0.68203	0.064000	0.16252	0.0:0.4705:0.5295:0.0	15.582	0.76195	127	0.94899	.	.	.	.	.	.	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	2619.98	33	chr4	123256160	.	G	T	2619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.098;DP=891;ExcessHet=0.0000;FS=6.552;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=-3.490e-01;SOR=1.143	GT:AD:DP:GQ:PL	0/1:84,98:182:99:2634,0,2083	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	1/1:0,87,0:87:99:3868,262,0,3868,262,3868	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	1/1:0,87,0:87:99:3868,262,0,3868,262,3868	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	0/1:50,28:78:99:.:.:273,0,1483	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	0/1:50,18:71:99:.:.:245,0,1484	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	1/1:0,123,0:123:99:.:.:4132,369,0,4132,369,4132	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	1/3:0,13,0,30,0:43:99:1718,1249,1210,1743,1261,1844,488,0,608,617,1743,1261,1844,608,1844	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	1/3:0,13,0,30,0:43:99:1718,1249,1210,1743,1261,1844,488,0,608,617,1743,1261,1844,608,1844	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	1/3:0,13,0,30,0:43:99:1718,1249,1210,1743,1261,1844,488,0,608,617,1743,1261,1844,608,1844	0	10	4	0
chr4	150798139	150798139	A	G	exonic	LRBA	.	nonsynonymous SNV	LRBA:NM_001199282:exon34:c.T5522C:p.L1841P	Immunodeficiency, common variable, 8, with autoimmunity, Autosomal recessive	.	32	1488	2	0	0	2	0.000671592	.	.	795540	Combined_immunodeficiency_due_to_LRBA_deficiency|not_provided	MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700,Orphanet:445018|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.695	M	0.48	T	-0.087	T	0.444	T	0.906	4.423	23.5	5.83	2.217	8.730	16.189	0.548	0.141384192322	.	.	8.284e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs752995422	5.324e-05	5.473e-05	3.445e-05	7.217e-05	0.0008	4.324e-05	3.995e-05	0.0007	0.0006	0	0	0	0	0	0.0003	9.108e-07	5.01e-05	0.0008	3.286e-05	3.283e-05	2.57e-05	4.036e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.001	0.78490	D	0.001	0.83351	D	0.999	0.90584	D	0.988	0.88582	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	0.48	0.64818	T	-5.89	0.88767	D	0.907	0.90818	-0.0869	0.80397	T	0.444	0.78100	T	10	0.63678205	0.68827	D	0.141384	0.82380	D	0.707	0.89514	0.636	0.77251	0.739204777061	0.73687	0.8403094318393423	0.83990	0.709716781131	0.61650	0.911393404007	0.97600	D	0.410668	0.76534	T	0.0892889	0.63110	D	0.266326	0.86393	D	0.706447303295135	0.41027	D	0.90021	0.65783	D	0.9354386	0.94784	0.9453803	0.98114	0.9354386	0.94784	0.9453803	0.98115	-12.264	0.86113	D	0.7485056125763362	0.83060	0.985	0.92330	P	.;.;.	.;.;.	4.804923	0.78109	26.8	0.99920708975892514	0.98721	0.99267	0.93693	D	AEFI	0.958992	0.97908	D	0.590135192316925	0.72558	5.824742	0.644851798171547	0.78228	6.834123	0.999965326588942	0.48965	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	8.718000	0.91150	11.202000	0.89070	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.189	0.81791	826	0.39940	.;.;.	.	.	.	.	.	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	611.98	34	chr4	150798139	.	A	G	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.690e-01;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.360;SOR=0.650	GT:AD:DP:GQ:PL	0/1:30,27:57:99:626,0,737	20	0	1	0
chr4	154270010	154270010	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon14:c.C6467T:p.T2156I,	.	.	13	1476	33	0	0	33	0.0110553	.	.	3210773	DCHS2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.76	P	0.484	P	0.000	D	1.000	D	2.795	M	0.35	T	-0.646	T	0.226	T	0.464	1.447	10.78	3.78	1.286	2.520	9.152	0.239	.	0.0018	0.0071885	0.0061	0.0004	0.0012	0.0005	0.0005	0.0022	0.0112	0.0337	0.0053557	828	154602	rs146032523	0.0040	0.0040	0.0031	0.0048	0.0352	0.0039	0.0038	0.0342	0.0337	0.0004	0.0017	0.0003	0.0002	0.0008	0.0091	0.0021	0.0042	0.0352	0.0025	0.0025	0.0021	0.0028	0.0357	0.0023	0.0022	0.0313	0.0296	0.0003	0.0208	0.0013	0	0.0004	9.468e-05	0	0.0021	0.0033	0.0357	.	.	.	.	.	.	.	.	.	.	.	.	0.000110	0.50451	D	0.080919	0.951162	0.37727	D	.	.	.	.	.	.	.	.	.	.	.	-0.6460	0.62887	T	0.226	0.59007	T	10	0.006926775	0.00157	T	.	.	.	0.239	0.54358	.	.	.	.	0.4371462445025686	0.43631	0.421972331622	0.42701	0.428028941154	0.28939	T	.	.	.	-0.315099	0.07307	T	-0.198234	0.54814	T	0.051825111248953	0.05817	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.37577	B	.	.	3.602285	0.50884	23.0	0.99540912594671249	0.70523	0.75788	0.37126	D	AEFI	0.170320	0.29722	N	0.240908584627223	0.53192	3.489131	0.180325613610028	0.48768	3.088515	1.91105380058075E-4	0.05898	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.55	3.78	0.42629	2.683000	0.46609	6.501000	0.55783	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0806:0.1454:0.774:0.0	9.152	0.36131	683	0.59664	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	626.98	33	chr4	154270010	.	G	A	626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.874e+00;DP=741;ExcessHet=0.0000;FS=5.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.357;SOR=0.295	GT:AD:DP:GQ:PL	0/1:35,29:64:99:641,0,934	20	0	1	0
chr4	155789900	155789900	A	G	exonic	GUCY1B1	.	nonsynonymous SNV	GUCY1B1:NM_001291955:exon4:c.A280G:p.I94V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.015	B	0.036	B	0.000	D	0.999	D	-1.2	N	0.98	T	-1.004	T	0.037	T	0.24	0.176	4.949	5.67	2.288	7.458	16.215	0.124	0.00583722670017	.	.	4.249e-05	0	0	0	0	7.624e-05	0	0	4.53e-05	7	154602	rs759468592	5.158e-05	5.336e-05	5.066e-05	5.251e-05	1.085e-05	4.214e-05	3.844e-05	5.78e-06	4.57e-06	0	0	0.0021	0	0	0	1.085e-05	0.0001	0	1.971e-05	1.97e-05	0	4.034e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0.0006	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.008	0.16265	B	0.016	0.22909	B	0.000000	0.84330	D	0.000000	0.999094	0.46054	D	-1.13	0.00936	N	0.98	0.42122	T	0.61	0.02480	N	0.22	0.28849	-1.0035	0.28903	T	0.037	0.16116	T	10	0.024088204	0.00651	T	0.005837	0.15191	T	0.124	0.34239	0.552	0.66856	0.130388298395	0.12655	0.5722551718703596	0.57153	0.0115580955069	0.01086	0.797086119652	0.81519	T	0.003024	0.38657	T	-0.235725	0.15899	T	-0.493514	0.23024	T	0.104799075159805	0.12876	T	0.770523	0.40040	T	0.22475775	0.45124	0.23865443	0.49194	0.22475775	0.45124	0.23865443	0.49193	-3.996	0.23744	T	.	.	0.127	0.27433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.315865	0.29649	18.19	0.58140307382118761	0.05926	0.98229	0.80739	D	AEFBI	0.897987	0.84077	D	-0.351286048934141	0.27225	1.491996	-0.0319349399927973	0.38281	2.253139	0.999999965565775	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.67	5.67	0.87673	7.425000	0.79444	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.215	0.82026	917	0.20147	Heme NO-binding;Heme NO-binding;.;Heme NO-binding;Heme NO-binding;.;Heme NO-binding	.	.	.	.	.	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	1196.98	34	chr4	155789900	.	A	G	1196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=814;ExcessHet=0.0000;FS=0.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-7.480e-01;SOR=0.841	GT:AD:DP:GQ:PL	0/1:78,45:123:99:1211,0,2042	20	0	1	0
chr4	168421789	168421789	C	T	exonic	DDX60L	.	nonsynonymous SNV	DDX60L:NM_001012967:exon17:c.G2365A:p.G789R	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.002	U	0.659	D	2.11	M	2.5	T	-0.865	T	0.092	T	0.552	2.364	13.86	3.96	1.753	2.241	15.611	0.243	0.0166254589882	.	.	7.422e-05	0	8.639e-05	0	0	0.0001	0	6.058e-05	5.82e-05	9	154602	rs375977740	6.567e-05	6.567e-05	6.534e-05	6.6e-05	0.0014	5.495e-05	5.107e-05	0.0007	0.0005	2.987e-05	6.708e-05	0	0	0	0.0014	6.385e-05	0.0001	5.797e-05	5.911e-05	5.906e-05	6.425e-05	5.373e-05	0.0002	3.076e-05	2.209e-05	1.972e-05	1.124e-05	7.218e-05	0	0	0	0	9.43e-05	0	5.88e-05	0	0.0002	0.005	0.72154	D	0.003	0.92824	D	.	.	.	.	.	.	0.001619	0.38497	U	0.000000	0.658597	0.33030	D	.	.	.	2.5	0.14408	T	-6.13	0.92173	D	0.59	0.62357	-0.8646	0.50930	T	0.092	0.35119	T	10	0.39681447	0.55285	T	0.016625	0.37977	T	0.243	0.54921	0.621	0.75576	0.163833314356	0.15978	0.31295354729866975	0.31208	0.193922154726	0.21726	0.499893784523	0.38813	T	0.069889	0.33824	T	-0.232354	0.16338	T	-0.366987	0.37240	T	0.731299996376038	0.42277	D	0.969303	0.88939	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.67877	A	.;.;.;.	.;.;.;.	3.052641	0.40963	21.3	0.99833107683497135	0.91456	0.03827	0.09170	N	ALL	0.292228	0.40315	N	0.173487452203899	0.49930	3.188009	-0.00115636148338605	0.39665	2.355187	1.0	0.98316	0.730579	0.87903	0	0.588015	0.36545	0	0.550215	0.18615	0	0.648885	0.59868	0	.	.	3.96	3.96	0.45097	2.295000	0.43236	1.275000	0.25315	0.433000	0.20966	0.606000	0.27796	0.002000	0.18203	0.008000	0.08271	0.0:1.0:0.0:0.0	15.611	0.76461	975	0.05339	.;.;.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1700.98	34	chr4	168421789	.	C	T	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.990e-01;DP=830;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-3.270e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1715,0,1885	20	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	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	4.780000	0.62075	7.388000	0.58495	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:66:0|1:176711629_G_C:66,0,2768:176711629	12	0	9	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|1:71,11:82:66:0|1:176711629_G_C:66,0,2768:176711629	6	0	11	4
chr4	186618051	186618051	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.G8535A:p.M2845I,	.	.	437	1076	8	1	0	10	0.00462535	.	.	709288	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.0	B	0.003	B	0.110	N	0.991	N	-0.45	N	0.74	T	-1.070	T	0.043	T	0.066	0.139	4.748	2.97	1.383	0.340	3.139	0.043	0.00525293207678	0.0031	0.000599042	0.0027	0.0005	0.0019	0	0.0005	0.0041	0.0056	0.0012	0.0026067	403	154602	rs138948513	0.0029	0.0029	0.0028	0.0029	0.0038	0.0028	0.0028	0.0026	0.0025	0.0001	0.0019	0.0317	0	0.0003	0.0038	0.0026	0.0044	0.0013	0.0026	0.0026	0.0027	0.0025	0.0031	0.0024	0.0023	0.0025	0.0024	0.0006	0	0.0031	0.0328	0	0.0003	0.0034	0.0028	0.0033	0.0006	0.047	0.40319	D	0.219	0.25987	T	0.0	0.02946	B	0.003	0.08700	B	0.110024	0.19459	N	0.595450	0.990862	0.24114	N	-0.415	0.02918	N	0.74	0.50459	T	-0.75	0.21003	N	0.078	0.06059	-1.0695	0.09523	T	0.043	0.18576	T	10	0.011210442	0.00246	T	0.005253	0.13402	T	0.043	0.11576	0.43	0.47843	0.27132560031	0.26736	0.12022670813363842	0.11949	0.106771979007	0.12062	0.312404096127	0.12270	T	0.09343	0.39209	T	-0.599756	0.00146	T	-0.638276	0.09796	T	0.00361396936645843	0.00038	T	0.637336	0.25103	T	0.123832844	0.29069	0.12070323	0.29128	0.12337377	0.28971	0.11619297	0.28049	-2.084	0.03516	T	.	.	0.159	0.35098	B	.;.	.;.	1.350602	0.17583	13.25	0.9571054709978154	0.27618	0.55025	0.29761	D	AEFDBCI	0.117762	0.23056	N	-0.660860733478906	0.17144	0.8797289	-0.510065658348824	0.21879	1.185729	0.999979589567119	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	4.86	2.97	0.33479	0.222000	0.17482	0.239000	0.16284	0.599000	0.40250	0.966000	0.33990	0.267000	0.24023	0.234000	0.22842	0.2112:0.4363:0.2644:0.0881	3.139	0.06063	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5783.08	125	chr4	186618051	.	C	T	5783.08	.	AC=2;AF=0.048;AN=42;DP=1870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.76;SOR=0.876	GT:AD:DP:GQ:PL	1/1:0,188:188:99:5811,564,0	20	1	0	0
chr4	189953067	189953067	G	-	splicing	FRG1	NM_004477:exon4:c.260-1G>-	.	.	.	.	163	1297	62	0	0	62	0.0233434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265231392	9.088e-05	0.0008	7.134e-05	0.0001	0.0010	7.78e-05	7.313e-05	0.0007	0.0006	0.0010	0.0007	0.0001	0.0002	0	0.0005	9.121e-06	5.156e-05	0.0006	0.0002	0.0035	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0005	0.0009	0	6.595e-05	0	0	0	0	2.945e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	777.73	8	chr4	189953066	.	AG	A	777.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=498;ExcessHet=0.3300;FS=2.572;InbreedingCoeff=-0.0692;MLEAC=2;MLEAF=0.048;MQ=52.25;MQRankSum=-3.324e+00;QD=5.33;ReadPosRankSum=1.01;SOR=0.911	GT:AD:DP:GQ:PL	0/1:26,4:30:71:71,0,959	18	0	3	0
chr5	251002	251002	A	C	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon11:c.A1418C:p.N473T	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	.	122	1399	1	0	0	1	0.00035727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.006	B	0.430	U	0.997	N	0.51	N	-1.37	T	-0.929	T	0.215	T	0.036	-1.051	0.193	-3.93	-0.640	-3.282	6.318	0.121	0.0321821890739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571	0.06164	T	0.68	0.06427	T	0.0	0.02946	B	0.005	0.11217	B	0.430370	0.12755	U	0.704674	0.996534	0.22984	N	0.575	0.15311	N	-1.37	0.80214	T	-0.74	0.24676	N	0.244	0.30118	-0.9287	0.44328	T	0.215	0.57599	T	10	0.06045893	0.07429	T	0.032182	0.54073	D	0.121	0.33580	0.359	0.36222	0.187945064343	0.18414	0.14770715168103155	0.14692	0.493090115459	0.47924	0.434868484735	0.29876	T	0.276804	0.72511	T	-0.227938	0.16923	T	-0.565194	0.15892	T	0.0283496560596192	0.01740	T	0.860114	0.55285	D	0.04512853	0.07335	0.035629217	0.02852	0.04512853	0.07335	0.035629217	0.02852	-6.741	0.52118	T	0.1268683878391736	0.12887	0.089	0.12037	B	.;.;.	.;.;.	-0.801465	0.01104	0.050	0.52610568719877004	0.04780	0.01833	0.05688	N	AEFBI	0.237466	0.35974	N	-1.28566560021281	0.03847	0.173	-1.314204038057	0.04246	0.1998549	0.313482540187262	0.19311	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.69	-3.93	0.03868	-3.018000	0.00707	-2.514000	0.03662	0.670000	0.69193	0.000000	0.06391	0.000000	0.08366	0.974000	0.55675	0.6561:0.1548:0.1891:0.0	6.318	0.20407	846	0.36215	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal;Fumarate reductase/succinate dehydrogenase flavoprotein-like, 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	838.98	34	chr5	251002	.	A	C	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e+00;DP=751;ExcessHet=0.0000;FS=1.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.756;SOR=0.976	GT:AD:DP:GQ:PL	0/1:38,34:72:99:853,0,1060	20	0	1	0
chr5	751153	751153	C	A	exonic	ZDHHC11B	.	nonsynonymous SNV	ZDHHC11B:NM_001351303:exon7:c.G608T:p.R203L,	.	.	519	1002	1	0	0	1	0.000498753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	0.006	N	1.000	D	.	.	1.88	T	-1.030	T	0.047	T	0.437	2.624	14.73	1.59	0.097	2.192	5.309	0.219	0.00729784261961	.	.	0.0009	0	0.0003	0	0	0.0015	0	0	0.0005821	90	154602	rs746401975	0.0007	0.0008	0.0007	0.0008	0.0006	0.0007	0.0007	0.0006	0.0006	3.716e-05	0.0001	0.0127	0	2.511e-05	0.0005	0.0006	0.0009	0	0.0002	0.0005	0.0003	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	7.406e-05	0	0	0.0040	0	0	0	0.0003	0	0	0.148	0.24857	T	0.057	0.46406	T	.	.	.	.	.	.	0.005624	0.01087	N	8.645720	1	0.81001	D	1.97	0.53315	M	1.88	0.23884	T	-5.97	0.89272	D	0.508	0.53972	-1.0297	0.20551	T	0.047	0.19958	T	7	0.01323989	0.00282	T	0.007298	0.19361	T	0.219	0.51417	0.538	0.64874	0.31077124679	0.30691	.	.	0.0944986486558	0.10674	.	.	.	0.039617	0.25250	T	-0.400883	0.02284	T	-0.450584	0.27632	T	0.0609102088946176	0.07311	T	0.725627	0.33984	T	0.12185714	0.28647	0.2367683	0.48957	0.12185714	0.28646	0.2367683	0.48956	-8.512	0.64508	D	.	.	0.238	0.47161	B	.;.	.;.	2.724290	0.35642	19.95	0.98561208997130412	0.42973	0.69873	0.34361	D	AEFGI	0.090215	0.18283	N	-0.71867628791125	0.15498	0.7815157	-0.81310169063064	0.14178	0.7394998	1.24605108616444E-4	0.05386	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.48	1.59	0.22622	1.759000	0.38049	-0.038000	0.12706	-1.148000	0.01430	0.993000	0.37899	0.002000	0.18203	0.002000	0.04165	0.1996:0.687:0.0:0.1134	5.309	0.15126	964	0.07719	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC 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	706.98	36	chr5	751153	.	C	A	706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=904;ExcessHet=0.0000;FS=3.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.40;MQRankSum=-6.251e+00;QD=6.26;ReadPosRankSum=-1.880e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/1:72,41:113:99:721,0,1576	20	0	1	0
chr5	37333593	37333593	G	A	exonic	NUP155	.	nonsynonymous SNV	NUP155:NM_001278312:exon13:c.C1388T:p.A463V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.113	B	0.096	B	0.000	D	1.000	D	0.69	N	-1.05	T	-0.683	T	0.288	T	0.523	3.374	17.38	5.52	2.596	7.455	15.088	0.262	0.0181801424549	.	.	0.0001	9.623e-05	0.0003	0	0	0.0001	0	0.0001	9.7e-05	15	154602	rs751958347	8.759e-05	8.961e-05	0.0001	7.428e-05	0.0002	7.49e-05	7.037e-05	7.401e-05	6.8e-05	8.966e-05	8.944e-05	0.0002	0	0	0.0002	8.816e-05	0.0002	6.957e-05	5.922e-05	5.913e-05	7.715e-05	4.043e-05	0.0001	3.081e-05	2.213e-05	2.847e-05	1.859e-05	4.832e-05	0	0.0001	0	0	0	0	7.352e-05	0	0	0.119	0.29554	T	0.096	0.39340	T	0.064	0.26349	B	0.096	0.30313	B	0.000004	0.62929	D	0.103777	0.999917	0.51042	D	1.12	0.28775	L	-1.06	0.76819	T	-1.07	0.27876	N	0.338	0.49055	-0.6831	0.61229	T	0.288	0.65968	T	10	0.17908818	0.33026	T	0.01818	0.40156	T	0.262	0.57482	0.663	0.80098	0.525810096056	0.52226	0.34488207629081485	0.34402	0.159469905242	0.17994	0.668800055981	0.62667	T	0.366325	0.73159	T	-0.107786	0.35135	T	-0.137558	0.60329	T	0.052560068666935	0.05944	T	0.940606	0.77652	D	0.10859211	0.25675	0.11384736	0.27479	0.10859211	0.25675	0.11384736	0.27478	-2.872	0.12554	T	.	.	0.124	0.32804	B	.;.;.	.;.;.	4.615986	0.73244	26.0	0.99594077592543861	0.73807	0.98970	0.89343	D	AEFBI	0.821312	0.74190	D	0.0651177343902202	0.44841	2.750865	0.274639429885081	0.54062	3.572472	0.999999443394343	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	7.631000	0.82408	11.575000	0.93308	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.8577:0.1423	15.088	0.71843	174	0.93268	Nucleoporin, Nup133/Nup155-like, N-terminal;.;Nucleoporin, Nup133/Nup155-like, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	905.98	33	chr5	37333593	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.598e+00;DP=771;ExcessHet=0.0000;FS=7.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-1.142e+00;SOR=0.200	GT:AD:DP:GQ:PL	0/1:23,40:63:99:920,0,646	20	0	1	0
chr5	42801176	42801176	T	C	exonic	SELENOP	.	unknown	UNKNOWN,	.	.	412	1104	6	0	0	6	0.00271003	.	.	709928	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00898562	0.0023	0.0279	0.0003	0	0	1.498e-05	0.0044	0	0.0022962	355	154602	rs28919922	0.0009	0.0009	0.0010	0.0007	0.0331	0.0008	0.0008	0.0315	0.0309	0.0331	0.0009	0	0	0	0.0007	2.248e-05	0.0019	8.115e-05	0.0082	0.0082	0.0085	0.0079	0.0288	0.0078	0.0077	0.0274	0.0269	0.0288	0	0.0023	0	0	0	0.0034	1.47e-05	0.0062	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017680526	0.00023	T	.	.	.	.	.	.	.	0.178374595973	0.17440	.	.	.	.	.	.	.	.	.	.	-0.730964	0.00024	T	-0.800443	0.01891	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509370	0.08783	5.559	0.88754793951829014	0.18228	0.09519	0.15257	N	AEFGBHCI	0.120013	0.23398	N	.	.	.	.	.	.	0.978201554285044	0.29898	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.74	-1.76	0.07574	-1.456000	0.02483	-1.642000	0.05002	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1184:0.173:0.4446:0.264	3.113	0.05982	412	0.82007	.	.	.	.	.	.	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	1611.98	41	chr5	42801176	.	T	C	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.618e+00;DP=878;ExcessHet=0.0000;FS=2.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.133;SOR=0.489	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1626,0,1699	20	0	1	0
chr5	44809331	44809331	-	GAGCCC	exonic	MRPS30	.	nonframeshift insertion	MRPS30:NM_016640:exon1:c.369_370insGAGCCC:p.P135_A136insEP,	.	.	428	1075	19	0	0	19	0.0087598	.	.	2827751	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	.	0.0043	0.0008	0.0018	0.0004	0.0009	0.0056	0.0066	0.0057	0.0001423	22	154602	rs779308521	0.0074	0.0074	0.0074	0.0074	0.0239	0.0073	0.0072	0.0207	0.0195	0.0015	0.0023	0.0185	0.0016	0.0010	0.0239	0.0081	0.0061	0.0060	0.0041	0.0041	0.0044	0.0038	0.0066	0.0038	0.0037	0.0056	0.0054	0.0013	0.0044	0.0024	0.0132	0.0016	0.0013	0.0238	0.0061	0.0038	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3431.94	34	chr5	44809331	.	G	GGAGCCC	3431.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=1069;ExcessHet=0.0000;FS=0.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.80;ReadPosRankSum=-1.723e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/1:76,89:165:99:3446,0,2825	20	0	1	0
chr5	55231488	55231488	C	T	exonic	CCNO	.	nonsynonymous SNV	CCNO:NM_021147:exon3:c.G940A:p.E314K,	Ciliary dyskinesia, primary, 29, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	364039	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.022	N	1.000	N	-0.14	N	0.88	T	-1.069	T	0.019	T	0.067	1.488	10.92	1.59	0.009	0.870	17.628	0.111	.	0.0036	0.00539137	0.0010	0.0114	0.0004	0	0	3.022e-05	0	0	0.001022	158	154602	rs114088695	0.0003	0.0003	0.0004	0.0003	0.0120	0.0003	0.0003	0.0111	0.0107	0.0120	0.0006	0	0	0	0.0002	1.888e-05	0.0008	3.478e-05	0.0033	0.0033	0.0036	0.0030	0.0114	0.0031	0.0030	0.0105	0.0102	0.0114	0	0.0012	0	0	0	0	4.41e-05	0.0043	0	0.238	0.17821	T	0.216	0.26226	T	0.0	0.02946	B	0.0	0.01387	B	0.022253	0.26671	N	0.407553	0.999955	0.19072	N	0.205	0.09354	N	0.88	0.46028	T	-0.83	0.22727	N	0.15	0.15328	-1.0688	0.09679	T	0.019	0.08033	T	10	0.0030366778	0.00050	T	.	.	.	0.111	0.31313	.	.	0.420199648628	0.41636	0.28982608643202495	0.28895	0.458711824476	0.45480	0.377266675234	0.21867	T	0.082239	0.36781	T	-0.646891	0.00076	T	-0.691603	0.06297	T	0.00659715699195005	0.00074	T	0.777822	0.41150	T	0.14785519	0.33781	0.16469488	0.38139	0.14785519	0.33781	0.16469488	0.38139	-3.618	0.18118	T	0.16805321199517062	0.20991	0.075	0.05317	B	.	.	1.574538	0.20152	14.61	0.98572812463120818	0.43128	0.54511	0.29634	D	AEFDBHCIJ	0.093273	0.18874	N	-1.22081654133838	0.04699	0.2126212	-1.12234769129828	0.07275	0.3532287	0.999999999533386	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.618803	0.45993	0	.	.	5.61	1.59	0.22622	0.561000	0.23220	4.239000	0.42696	-0.225000	0.07834	0.732000	0.28943	1.000000	0.68203	0.958000	0.51230	0.0:0.4815:0.5185:0.0	17.628	0.88001	557	0.71576	Cyclin, C-terminal domain|Cyclin-like|Cyclin, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	3315.08	36	chr5	55231488	.	C	T	3315.08	.	AC=2;AF=0.048;AN=42;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.27;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3343,318,0	20	1	0	0
chr5	56882153	56882155	ACC	-	exonic	MAP3K1	.	nonframeshift deletion	MAP3K1:NM_005921:exon14:c.2953_2955del:p.T985del,	46XY sex reversal 6, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	699128	46,XY_sex_reversal_6	MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00798722	0.0022	0.0264	0.0008	0	0	2.998e-05	0.0011	0	0.000461	12	26028	rs140733770	0.0008	0.0008	0.0009	0.0006	0.0271	0.0007	0.0007	0.0257	0.0251	0.0271	0.0013	0	0	0	0.0012	1.799e-05	0.0020	4.637e-05	0.0072	0.0072	0.0077	0.0068	0.0251	0.0069	0.0067	0.0238	0.0233	0.0251	0	0.0026	0	0	0	0.0034	8.82e-05	0.0057	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	7362.05	144	chr5	56882152	.	AACC	A	7362.05	.	AC=2;AF=0.048;AN=42;DP=2676;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.61;SOR=1.004	GT:AD:DP:GQ:PL	1/1:0,167:167:99:7390,503,0	20	1	0	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	1/1:0,15,0:15:45:.:.:627,45,0,628,45,628	11	1	6	0
chr5	63960821	63960821	T	C	exonic	HTR1A	.	nonsynonymous SNV	HTR1A:NM_000524:exon1:c.A899G:p.N300S,	Periodic fever, menstrual cycle dependent, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.002	B	0.200	N	0.903	N	0.75	N	0.09	T	-1.010	T	0.097	T	0.08	0.440	6.390	2.77	0.431	0.314	7.635	0.067	0.00532154792882	0.0004	0.000399361	8.31e-05	0.0010	0	0	0	0	0	0	7.76e-05	12	154602	rs150096239	5.131e-05	5.13e-05	5.037e-05	5.226e-05	0.0018	4.192e-05	3.823e-05	0.0014	0.0013	0.0018	2.236e-05	0	0	0	0.0002	0	0.0002	1.159e-05	0.0004	0.0004	0.0004	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0	0	0	0	0	0	0.0005	0	0.311	0.13971	T	0.581	0.08476	T	0.0	0.02946	B	0.002	0.06944	B	0.199945	0.16626	N	0.543177	0.903186	0.27660	N	-0.045	0.04980	N	0.09	0.61443	T	-0.52	0.16187	N	0.059	0.03069	-1.0098	0.26981	T	0.097	0.36471	T	10	0.01633355	0.00344	T	0.005322	0.13618	T	0.067	0.19503	.	.	0.379559396232	0.37572	0.28605119800701184	0.28518	0.501798849962	0.48557	0.37405064702	0.21411	T	0.139801	0.47401	T	-0.531248	0.00378	T	-0.576411	0.14867	T	0.0109967238934782	0.00158	T	0.573743	0.20563	T	0.037499093	0.04818	0.033131592	0.02159	0.037499093	0.04817	0.033131592	0.02159	-2.041	0.03339	T	.	.	0.06	0.00934	B	.	.	1.141042	0.15283	11.73	0.85839391661265296	0.16145	0.78373	0.38657	D	AEFDBHCI	0.366847	0.45451	N	-0.547410584520797	0.20565	1.085026	-0.37154359238871	0.25848	1.424103	0.990138793312823	0.32050	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	5.17	2.77	0.31614	0.020000	0.13359	0.127000	0.14995	0.665000	0.62972	0.937000	0.32526	0.984000	0.30665	0.979000	0.57723	0.0:0.2623:0.0:0.7377	7.635	0.27431	827	0.39843	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	0.04762	2486.08	33	chr5	63960821	.	T	C	2486.08	.	AC=2;AF=0.048;AN=42;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.02;SOR=0.840	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2514,213,0	20	1	0	0
chr5	67165563	67165563	G	C	exonic	MAST4	.	nonsynonymous SNV	MAST4:NM_001290227:exon26:c.G5601C:p.R1867S	.	.	422	1099	1	0	0	1	0.000454752	.	.	699146	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	0.328	B	0.085	B	0.047	N	1.000	N	0.55	N	-0.38	T	-0.985	T	0.094	T	0.205	2.123	13.06	1.32	0.035	0.207	7.252	0.009	.	0.0059	0.00519169	0.0017	0.0199	0.0005	0	0	7.628e-05	0.0011	0	0.0016365	253	154602	rs77191584	0.0006	0.0006	0.0007	0.0005	0.0193	0.0005	0.0005	0.0181	0.0176	0.0193	0.0007	0	0	0	0.0005	7.105e-05	0.0013	4.638e-05	0.0056	0.0056	0.0058	0.0054	0.0197	0.0053	0.0052	0.0186	0.0181	0.0197	0	0.0016	0	0	0	0	0.0001	0.0019	0	0.001	0.78490	D	0.009	0.67890	D	0.328	0.33195	B	0.085	0.29395	B	0.046962	0.01967	N	1.955400	1	0.08975	N	.	.	.	-0.39	0.69287	T	-0.97	0.25770	N	0.055	0.05542	-0.9848	0.33879	T	0.094	0.35578	T	10	0.002568841	0.00039	T	.	.	.	0.051	0.14325	.	.	0.376745185316	0.37282	0.05054560425412593	0.04997	0.206603004611	0.23089	0.281056523323	0.07639	T	.	.	.	-0.44693	0.01177	T	-0.399165	0.33482	T	0.00896891655121351	0.00112	T	0.905909	0.66829	D	0.16694202	0.37061	0.10023215	0.23959	0.16694202	0.37060	0.10023215	0.23958	-3.192	0.12383	T	.	.	0.173	0.52010	B	.;.;.;.	.;.;.;.	1.077786	0.14608	11.17	0.93627708499837492	0.23499	0.25063	0.22586	N	AEFDBCI	0.083715	0.16962	N	-0.988510099806699	0.08849	0.4164796	-1.00219556992822	0.09737	0.4861756	0.999960281251308	0.48965	0.700653	0.57754	0	0.610034	0.51514	0	0.717052	0.78885	0	0.711	0.71501	0	.	.	5.73	1.32	0.20897	0.220000	0.17445	0.392000	0.17901	-0.113000	0.14837	0.025000	0.20085	0.012000	0.20211	0.052000	0.15357	0.6113:0.0:0.3887:0.0	7.252	0.25331	939	0.14249	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2878.08	38	chr5	67165563	.	G	C	2878.08	.	AC=2;AF=0.048;AN=42;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.30;SOR=0.848	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2906,285,0	20	1	0	0
chr5	67166315	67166315	A	G	exonic	MAST4	.	nonsynonymous SNV	MAST4:NM_001290227:exon26:c.A6353G:p.Y2118C	.	.	417	1104	1	0	0	1	0.000452694	.	.	699147	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.874	P	0.746	N	1.000	D	0.975	L	-0.69	T	-0.377	T	0.245	T	0.48	2.688	14.95	4.69	1.961	2.765	14.310	0.310	.	0.0062	0.00519169	0.0037	0.0352	0.0020	0	0	0.0003	0.0035	0	0.0014424	223	154602	rs138020214	0.0006	0.0006	0.0007	0.0005	0.0195	0.0006	0.0005	0.0183	0.0178	0.0195	0.0008	0	0	0	0.0005	7.114e-05	0.0015	6.099e-05	0.0057	0.0057	0.0059	0.0055	0.0200	0.0054	0.0053	0.0189	0.0184	0.0200	0	0.0016	0	0	0	0	0.0001	0.0019	0	0.0	0.91255	D	0.015	0.63109	D	0.997	0.70673	D	0.874	0.62049	P	0.746279	0.09736	N	0.861242	0.814071	0.34682	D	.	.	.	-0.7	0.72994	T	-2.85	0.60029	D	0.355	0.42050	-0.3765	0.72761	T	0.245	0.61366	T	10	0.0055072904	0.00122	T	.	.	.	0.310	0.63162	.	.	0.742678573834	0.74036	0.02860765780235277	0.02810	0.274519964624	0.29946	0.393145531416	0.24111	T	.	.	.	-0.28867	0.09769	T	-0.171835	0.57275	T	0.060605130550564	0.07263	T	0.862314	0.55722	D	0.30652663	0.53484	0.21110395	0.45525	0.30652663	0.53484	0.21110395	0.45524	-1.644	0.02087	T	.	.	0.120	0.60920	B	.;.;.;.	.;.;.;.	3.160920	0.42825	21.6	0.99552313878607435	0.71211	0.78633	0.38824	D	ALL	0.434764	0.49568	N	0.231323824044654	0.52723	3.444643	0.184978974922377	0.49024	3.110662	1.0	0.98316	0.714207	0.82060	0	0.573149	0.20659	1	0.666236	0.60216	0	0.616919	0.45865	0	.	.	4.69	4.69	0.58546	2.766000	0.47312	3.836000	0.40018	0.756000	0.94297	0.985000	0.35982	0.981000	0.30433	0.242000	0.23054	1.0:0.0:0.0:0.0	14.310	0.65963	938	0.14419	.;.;.;.	.	.	.	.	.	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	4293.08	38	chr5	67166315	.	A	G	4293.08	.	AC=2;AF=0.048;AN=42;DP=955;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.07;SOR=1.430	GT:AD:DP:GQ:PL	1/1:0,126:126:99:4321,379,0	20	1	0	0
chr5	71061294	71061294	T	C	exonic	GTF2H2;GTF2H2C_2	.	nonsynonymous SNV	GTF2H2C_2:NM_001354437:exon4:c.A149G:p.H50R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.001	B	0.000	D	1.000	D	0	N	1.63	T	-1.065	T	0.029	T	0.222	-1.161	0.095	2.52	1.390	4.721	5.657	0.053	0.00625579747303	.	0.00119808	0.0002	0.0014	0	0	0	0	0	0	0.0002305	6	26028	rs530061957	0.0001	0.0001	0.0001	0.0001	0.0032	9.206e-05	8.636e-05	0.0027	0.0025	0.0032	0.0003	0	0	0	0.0004	3.866e-06	0.0004	4.954e-05	0.0008	0.0009	0.0009	0.0007	0.0025	0.0007	0.0006	0.0021	0.0020	0.0025	0	0.0007	0	0	0	0	1.543e-05	0	0	0.527	0.07093	T	0.557	0.10173	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.048217	0.99908	0.81001	D	0.145	0.08828	N	1.63	0.28002	T	0.73	0.02068	N	0.441	0.47949	-1.0649	0.10572	T	0.029	0.12673	T	10	0.011872292	0.00258	T	0.006256	0.16406	T	0.053	0.14996	.	.	0.117191471859	0.11215	0.3619918016625109	0.36113	1.94237216001	0.93242	0.828367233276	0.86312	D	0.069045	0.33611	T	-0.519703	0.00442	T	-0.549373	0.17387	T	0.014760396698245	0.00309	T	0.768523	0.41468	T	0.33382756	0.55782	0.16575076	0.38327	0.33382756	0.55782	0.16575076	0.38326	-5.165	0.38584	T	.	.	0.065	0.02370	B	.;.;.	.;.;.	3.420659	0.47492	22.5	0.3030303053329767	0.01650	0.90062	0.50950	D	AEFI	0.495218	0.53068	N	-0.544583507038703	0.20653	1.090378	-0.396678900275615	0.25095	1.378	6.75170049165851E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.52	2.52	0.29514	4.816000	0.62333	6.212000	0.55024	0.450000	0.21304	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1394:0.0:0.8606	5.657	0.16924	958	0.09170	.;.;.	.	.	.	.	.	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	3611.98	33	chr5	71061294	.	T	C	3611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=852;ExcessHet=0.0000;FS=2.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.43;MQRankSum=8.70;QD=20.41;ReadPosRankSum=-2.460e+00;SOR=1.052	GT:AD:DP:GQ:PL	0/1:30,147:177:99:3626,0,197	20	0	1	0
chr5	73173856	73173856	G	A	exonic	TMEM174	.	nonsynonymous SNV	TMEM174:NM_153217:exon1:c.G613A:p.G205S,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.021	B	0.005	B	0.955	N	1.000	N	0.665	N	.	.	-1.020	T	0.020	T	0.018	-0.321	2.473	-1.99	-0.279	-0.298	6.403	0.066	.	0.0068	0.00559105	0.0019	0.0206	0.0005	0	0	3.023e-05	0	0.0003	0.0017335	268	154602	rs74385846	0.0006	0.0006	0.0006	0.0005	0.0200	0.0005	0.0005	0.0187	0.0182	0.0200	0.0011	0	0	0	0.0016	1.351e-05	0.0012	0.0001	0.0058	0.0058	0.0060	0.0055	0.0200	0.0054	0.0053	0.0189	0.0185	0.0200	0	0.0023	0	0	0	0	1.47e-05	0.0028	0.0006	0.823	0.02936	T	1.0	0.01155	T	0.021	0.18474	B	0.005	0.11217	B	0.955459	0.08259	N	0.980801	1	0.08975	N	1.3	0.32576	L	.	.	.	-0.49	0.15578	N	0.157	0.16308	-1.0204	0.23584	T	0.020	0.08220	T	9	0.004409641	0.00090	T	.	.	.	0.066	0.19193	.	.	0.0138822411134	0.00435	0.25424125139263026	0.25338	0.0204084159912	0.02005	0.219857722521	0.01302	T	0.003182	0.02586	T	-0.684533	0.00045	T	-0.739804	0.03898	T	0.00253129469378619	0.00026	T	0.408059	0.10511	T	0.031976923	0.03136	0.045321032	0.06073	0.031976923	0.03136	0.045321032	0.06073	-2.64	0.06813	T	.	.	0.075	0.05491	B	.	.	-0.047931	0.03964	0.890	0.29962312429044852	0.01615	0.03814	0.09150	N	AEFBCI	0.042522	0.06607	N	-1.21382497081516	0.04799	0.2173468	-1.25553929542204	0.05049	0.239687	0.0235907214399438	0.13518	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-1.99	0.07047	-0.135000	0.10399	0.079000	0.14366	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.601:0.0:0.232:0.167	6.403	0.20853	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3745.08	33	chr5	73173856	.	G	A	3745.08	.	AC=2;AF=0.048;AN=42;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.01;SOR=0.856	GT:AD:DP:GQ:PL	1/1:0,117:117:99:3773,351,0	20	1	0	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	0/2:21,0,38,0:59:99:1421,1485,2346,0,861,745,1485,2346,861,2346	7	0	1	0
chr5	91373714	91373714	A	C	exonic	ARRDC3	.	nonsynonymous SNV	ARRDC3:NM_001329671:exon6:c.T498G:p.F166L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.956	P	0.899	P	0.000	D	1.000	D	2.18	M	2.67	T	-1.106	T	0.069	T	0.732	4.351	22.9	-0.933	0.060	0.408	12.035	0.244	0.0183909304288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.004	0.74150	D	0.956	0.54666	P	0.899	0.63802	P	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.41	0.69639	M	2.67	0.12473	T	-3.89	0.72820	D	0.692	0.69737	-1.1061	0.03427	T	0.069	0.28247	T	10	0.79993737	0.79410	D	0.018391	0.40438	T	0.244	0.55061	0.778	0.90312	0.370644970701	0.36680	0.7220131748588393	0.72145	1.45752385039	0.86286	0.868124127388	0.92300	D	0.263007	0.63465	T	-0.0104081	0.50209	T	-0.252727	0.49547	T	0.992111563682556	0.82518	D	0.906109	0.66926	D	0.40703014	0.61216	0.40540364	0.64941	0.40703014	0.61217	0.40540364	0.64941	-9.573	0.71313	D	.	.	0.993	0.94534	P	.	.	3.285505	0.45031	22.1	0.99803578704541662	0.88817	0.87661	0.47275	D	AEFDBHCI	0.294237	0.40466	N	0.200826343201698	0.51240	3.306814	0.117557709340974	0.45448	2.807703	0.999998904344678	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.741806	0.99463	0	.	.	5.86	-0.933	0.09900	0.418000	0.20950	1.080000	0.23883	0.756000	0.94297	0.996000	0.39380	0.995000	0.32472	0.996000	0.76049	0.5614:0.0:0.4386:0.0	12.035	0.52718	897	0.25382	.	.	.	.	.	.	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	813.98	33	chr5	91373714	.	A	C	813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.552;DP=768;ExcessHet=0.0000;FS=0.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-1.095e+00;SOR=0.834	GT:AD:DP:GQ:PL	0/1:41,35:76:99:828,0,996	20	0	1	0
chr5	96895352	96895352	T	G	exonic	ERAP2	.	nonsynonymous SNV	ERAP2:NM_001329229:exon6:c.T1097G:p.L366R	.	.	440	1061	20	1	0	22	0.0102612	.	.	195748	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.98	D	0.979	D	0.000	D	1.000	D	2.71	M	4.17	T	-1.178	T	0.040	T	0.746	3.678	18.69	4.74	1.904	5.502	13.506	0.282	0.0175764627753	0.0035	0.00259585	0.0042	0.0008	0.0023	0.0001	0.0018	0.0056	0.0077	0.0047	0.0040814	631	154602	rs34261036	0.0039	0.0039	0.0037	0.0040	0.0211	0.0038	0.0037	0.0180	0.0169	0.0005	0.0032	0.0046	0	0.0021	0.0211	0.0041	0.0044	0.0040	0.0034	0.0034	0.0032	0.0036	0.0056	0.0031	0.0030	0.0048	0.0046	0.0006	0	0.0038	0.0035	0	0.0021	0.0102	0.0052	0.0057	0.0056	0.0	0.91255	D	0.003	0.76473	D	0.915	0.59353	P	0.979	0.74454	D	0.000108	0.50451	D	0.000000	0.907464	0.36324	D	2.47	0.71715	M	4.17	0.02767	T	-4.54	0.81030	D	0.8	0.79599	-1.1776	0.00406	T	0.040	0.17149	T	10	0.005635202	0.00125	T	0.017576	0.39335	T	0.282	0.59981	.	.	0.372993862945	0.36913	0.6268340642401682	0.62616	0.378693144737	0.39273	0.501991987228	0.39106	T	0.086765	0.37795	T	-0.286898	0.09949	T	-0.182551	0.56287	T	0.0274580849501722	0.01610	T	0.919208	0.70989	D	0.95011187	0.96277	0.8890843	0.94202	0.95011187	0.96277	0.8890843	0.94202	-10.268	0.77139	D	.	.	0.235	0.57823	B	.;.;.	.;.;.	4.525717	0.71002	25.6	0.9976258417103987	0.85172	0.95379	0.64490	D	AEFGBI	0.379403	0.46243	N	0.640707828479262	0.75767	6.364786	0.559659826818244	0.72072	5.752534	0.999999098623956	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.74	4.74	0.59717	4.771000	0.62011	7.052000	0.57375	0.587000	0.30956	0.882000	0.31029	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.506	0.60942	905	0.23532	Peptidase M1, membrane alanine aminopeptidase, N-terminal;Peptidase M1, membrane alanine aminopeptidase, 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	0	0	1	0	0.02381	860.98	37	chr5	96895352	.	T	G	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=0.303;SOR=0.782	GT:AD:DP:GQ:PL	0/1:48,39:87:99:875,0,1201	20	0	1	0
chr5	100535540	100535540	T	A	exonic	FAM174A	.	nonsynonymous SNV	FAM174A:NM_198507:exon1:c.T10A:p.S4T,	.	.	425	1082	13	2	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.601	N	1.000	N	-0.69	N	0.92	T	-1.038	T	0.036	T	0.069	-0.887	0.464	-2.04	-0.305	-0.320	4.431	0.026	0.00311594362081	0.0005	0.000599042	0.0006	0	0.0004	0	0.0006	0.0009	0.0035	0.0003	0.0006015	93	154602	rs142597545	0.0007	0.0007	0.0006	0.0007	0.0101	0.0006	0.0006	0.0080	0.0072	0.0002	0.0006	0.0025	0	0.0004	0.0101	0.0006	0.0011	0.0004	0.0005	0.0005	0.0006	0.0005	0.0007	0.0004	0.0004	0.0006	0.0005	7.212e-05	0	0.0004	0.0035	0	0.0002	0.0136	0.0007	0.0005	0.0002	0.42	0.09836	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.601010	0.05646	N	1.292880	1	0.08975	N	-0.205	0.04094	N	0.92	0.44461	T	-0.27	0.11366	N	0.09	0.06854	-1.0377	0.18016	T	0.036	0.15422	T	9	0.005089313	0.00110	T	0.003116	0.06756	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.10503746368612639	0.10433	0.487470984321	0.47571	0.32639208436	0.14388	T	0.00366	0.03070	T	-0.634902	0.00089	T	-0.76403	0.02970	T	0.00977121171551003	0.00128	T	0.253875	0.03902	T	0.05200074	0.09635	0.05376458	0.09118	0.05200074	0.09635	0.05376458	0.09118	-4.382	0.29312	T	.	.	0.068	0.02670	B	.	.	0.368543	0.07412	4.037	0.78170854140537027	0.12185	0.01595	0.05182	N	ALL	0.042217	0.06523	N	-1.43783463054177	0.02314	0.1020376	-1.42553408480251	0.02999	0.1390578	0.99999999997571	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.4	-2.04	0.06937	-0.604000	0.05763	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.169:0.3228:0.0:0.5081	4.431	0.10954	792	0.45996	.	.	.	.	.	.	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	541.98	25	chr5	100535540	.	T	A	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.273;DP=653;ExcessHet=0.0000;FS=3.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-2.140e+00;SOR=1.508	GT:AD:DP:GQ:PL	0/1:14,21:35:99:556,0,312	20	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.038	B	0.103	B	0.114	N	1.000	N	1.31	L	1.09	T	-1.022	T	0.093	T	0.197	1.681	11.58	-1.11	0.028	-0.721	2.952	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	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	0.0625	201.76	54	chr5	102270770	.	G	A	201.76	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.034e+00;DP=995;ExcessHet=0.1072;FS=80.571;InbreedingCoeff=-0.1310;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=0.689;SOR=5.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,8:54:56:0|1:102270769_T_C:56,0,1734:102270769	14	0	2	5
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.001	B	0.008	B	0.114	N	1.000	N	0.905	L	1.2	T	-1.061	T	0.060	T	0.127	-0.368	2.265	0.664	-0.108	-0.762	4.822	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	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	68.89	58	chr5	102270771	.	T	C	68.89	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.570e+00;DP=963;ExcessHet=0.1072;FS=57.095;InbreedingCoeff=-0.0663;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.816;SOR=6.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,8:54:56:0|1:102270769_T_C:56,0,1734:102270769	18	0	2	1
chr5	110605337	110605337	C	T	exonic	TMEM232	.	nonsynonymous SNV	TMEM232:NM_001039763:exon10:c.G1048A:p.D350N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	B	0.063	B	0.428	N	1.000	N	0.885	L	.	.	-1.030	T	0.060	T	0.051	2.837	15.45	-0.71	-0.407	0.088	4.671	0.078	0.0136822022945	.	0.000798722	0.0014	0	0	0	0	0	0.0081	0.0037	0.0002264	35	154602	rs575969740	0.0002	0.0002	8.354e-05	0.0003	0.0029	0.0002	0.0001	0.0026	0.0025	3.202e-05	0	0	0	0	0	1.86e-06	0.0002	0.0029	7.223e-05	7.218e-05	7.709e-05	6.716e-05	0.0023	3.969e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.195	0.20759	T	0.211	0.26631	T	0.117	0.26519	B	0.063	0.27082	B	0.428270	0.12781	N	0.725667	1	0.08975	N	1.56	0.39490	L	.	.	.	-2.34	0.51811	N	0.121	0.11197	-1.0302	0.20390	T	0.060	0.24981	T	8	0.0041718185	0.00083	T	0.013682	0.33266	T	0.078	0.22779	0.292	0.25400	0.0401082797425	0.02173	0.05268344718627883	0.05210	.	.	0.324251592159	0.14065	T	0.004167	0.03581	T	-0.633139	0.00091	T	-0.684342	0.06722	T	0.019827018876629	0.00684	T	0.591441	0.21800	T	0.067428336	0.14600	0.063693665	0.12654	0.067428336	0.14600	0.063693665	0.12653	-3.752	0.20089	T	.	.	0.101	0.17445	B	.	.	1.453416	0.18750	13.90	0.98175669940237253	0.38899	0.02706	0.07356	N	AEFI	0.058748	0.11043	N	-0.853324405657567	0.11968	0.5806203	-0.86394039162877	0.12953	0.6692764	1.30672530232399E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	-0.71	0.10668	-0.003000	0.12836	0.755000	0.21268	0.587000	0.30956	0.000000	0.06391	0.016000	0.20520	0.911000	0.44643	0.2322:0.5465:0.0:0.2213	4.671	0.12075	885	0.28214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	233.98	33	chr5	110605337	.	C	T	233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e-01;DP=710;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=0.203;SOR=0.752	GT:AD:DP:GQ:PL	0/1:23,11:34:99:248,0,627	20	0	1	0
chr5	113340599	113340599	C	T	exonic	MCC	.	nonsynonymous SNV	MCC:NM_001085377:exon3:c.G547A:p.A183T,	Colorectal cancer, somatic	.	425	1090	7	0	0	7	0.00320073	.	.	734804	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.451	N	1.000	N	.	.	1.25	T	-1.006	T	0.033	T	0.034	-2.060	0.006	-0.075	-0.082	0.045	8.803	0.008	0.0033434493211	0.0017	0.000798722	0.0025	0.0007	0.0010	0	0.0023	0.0038	0	0.0006	0.0023286	360	154602	rs75148264	0.0027	0.0027	0.0028	0.0026	0.0064	0.0026	0.0026	0.0048	0.0042	0.0006	0.0017	0.0065	0	0.0020	0.0064	0.0030	0.0030	0.0007	0.0020	0.0020	0.0020	0.0019	0.0037	0.0018	0.0017	0.0030	0.0027	0.0008	0	0.0037	0.0063	0.0002	0.0011	0	0.0024	0.0038	0.0012	0.195	0.20759	T	0.06	0.45744	T	0.0	0.02946	B	0.001	0.04355	B	0.450843	0.12509	N	0.642545	1	0.08975	N	.	.	.	1.25	0.36512	T	-0.04	0.07590	N	0.312	0.35194	-1.0062	0.28095	T	0.033	0.13986	T	9	0.0044106245	0.00090	T	0.003343	0.07451	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.19501911047765577	0.19419	0.0765748949308	0.08593	0.273665159941	0.06624	T	.	.	.	-0.691105	0.00041	T	-0.768866	0.02805	T	0.00031697255326435	0.00003	T	0.40256	0.10281	T	.	.	.	.	.	.	.	.	-3.641	0.18452	T	.	.	0.073	0.04806	B	.	.	0.349032	0.07221	3.817	0.74195682189564149	0.10605	0.07314	0.13336	N	AEFDBCI	0.046672	0.07775	N	-1.31891526004582	0.03459	0.1545445	-1.35575469894214	0.03738	0.1749991	0.999839913408045	0.43792	0.65861	0.49226	0	0.59043	0.45803	0	0.725225	0.93170	0	0.75052	0.99595	0	.	.	4.2	-0.0748	0.13062	0.058000	0.14178	0.242000	0.16320	-0.842000	0.02783	0.017000	0.19353	0.039000	0.21534	0.302000	0.24547	0.0:0.6731:0.1118:0.2152	8.803	0.34077	921	0.19240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	895.98	43	chr5	113340599	.	C	T	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.100e-02;DP=836;ExcessHet=0.0000;FS=2.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=1.76;SOR=0.792	GT:AD:DP:GQ:PL	0/1:52,40:92:99:910,0,1251	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	1/2:0,50,16,0:66:99:1838,622,1897,1260,0,1945,2021,1407,1782,3004	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	0/1:20,31,0:51:99:1358,0,1720,1269,843,2695	3	5	12	0
chr5	115816369	115816369	C	G	exonic	CDO1	.	nonsynonymous SNV	CDO1:NM_001323565:exon1:c.G29C:p.R10P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.778	P	0.182	B	0.068	N	1.000	N	0.895	L	0.96	T	-1.069	T	0.062	T	0.732	2.114	13.02	3.51	0.730	1.141	8.133	0.171	0.0527396227111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.105	0.38016	T	0.778	0.44187	P	0.182	0.35926	B	0.068336	0.21680	N	0.493499	1	0.08975	N	1.15	0.29295	L	0.96	0.42888	T	-1.12	0.28906	N	0.151	0.15469	-1.0693	0.09567	T	0.062	0.25923	T	10	0.23640722	0.40721	T	0.05274	0.65193	D	0.171	0.43483	0.534	0.64293	0.458013479912	0.45428	0.6741192108326923	0.67349	0.221222536411	0.24668	0.509595394135	0.40165	T	0.332818	0.70274	T	0.00880896	0.52862	T	-0.225123	0.52243	T	0.373414069414139	0.27929	T	0.875712	0.58780	D	0.76025295	0.81468	0.4822751	0.70022	0.76025295	0.81469	0.4822751	0.70023	-7.206	0.55524	T	.	.	0.244	0.47816	B	.	.	3.267475	0.44713	22.0	0.99072214309519713	0.51762	0.67174	0.33337	D	ALL	0.668428	0.63621	D	-0.216359737315322	0.32461	1.831001	-0.212750772306459	0.31076	1.755454	0.999999038920016	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.56751	0.32155	0	.	.	5.3	3.51	0.39297	0.987000	0.29203	1.360000	0.25874	0.596000	0.33519	0.890000	0.31197	0.990000	0.31317	0.625000	0.32026	0.0:0.6875:0.0:0.3125	8.133	0.30200	692	0.58729	.	.	.	.	.	.	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	1456.98	33	chr5	115816369	.	C	G	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=-1.633e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:34,57:91:99:1471,0,692	20	0	1	0
chr5	116002837	116002837	A	C	exonic	LVRN	.	nonsynonymous SNV	LVRN:NM_173800:exon11:c.A1823C:p.D608A,	.	.	483	1037	2	0	0	2	0.000963391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.002	B	0.002	B	0.388	U	1.000	N	0.55	N	5.05	T	-0.954	T	0.016	T	0.174	1.349	10.43	0.14	-0.190	0.751	5.663	0.038	0.00537775338147	0.0033	0.000798722	0.0021	0.0013	0.0020	0	0.0005	0.0031	0.0025	0.0007	0.002128	329	154602	rs145746383	0.0038	0.0038	0.0039	0.0037	0.0047	0.0037	0.0037	0.0046	0.0045	0.0007	0.0021	0.0003	0	0.0002	0.0002	0.0047	0.0027	0.0005	0.0025	0.0025	0.0029	0.0021	0.0044	0.0023	0.0022	0.0040	0.0038	0.0011	0	0.0016	0	0	0.0003	0	0.0044	0.0024	0.0021	0.171	0.22746	T	0.196	0.27943	T	0.002	0.09854	B	0.002	0.06944	B	0.388072	0.04460	U	1.518970	1	0.08975	N	1.175	0.29870	L	5.05	0.01268	T	-0.97	0.25770	N	0.091	0.07125	-0.9535	0.40363	T	0.016	0.06569	T	10	0.00716275	0.00163	T	0.005378	0.13801	T	0.038	0.09825	.	.	0.234412748748	0.23057	0.40477576170139257	0.40393	0.0918831322255	0.10371	0.281590223312	0.07715	T	0.016027	0.13326	T	-0.602787	0.00140	T	-0.634913	0.10044	T	0.00373262784998787	0.00040	T	0.40026	0.10182	T	0.05342861	0.10108	0.05192177	0.08454	0.05342861	0.10107	0.05192177	0.08453	-3.772	0.20387	T	.	.	0.085	0.10304	B	.;.	.;.	2.112010	0.26880	17.27	0.94816341794817183	0.25582	0.60023	0.31078	D	AEFBI	0.096355	0.19453	N	-0.701484033031547	0.15980	0.8101576	-0.559594611364272	0.20551	1.107755	0.128820170268025	0.17048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	0.14	0.14101	1.107000	0.30724	0.681000	0.20681	-0.070000	0.16343	0.993000	0.37899	0.008000	0.19753	0.967000	0.53440	0.5954:0.1313:0.2734:0.0	5.663	0.16957	903	0.23940	.;.	.	.	.	.	.	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	1044.98	33	chr5	116002837	.	A	C	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-4.140e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1059,0,1026	20	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.003	B	0.004	B	0.207	N	0.988	N	0.55	N	-1.75	D	-0.897	T	0.264	T	0.158	2.319	13.71	-0.052	0.043	0.698	4.261	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	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	0.1667	785.45	37	chr5	119499449	.	T	C	785.45	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.748e+00;DP=1279;ExcessHet=2.5830;FS=149.385;InbreedingCoeff=-0.1971;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.58;SOR=9.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,12:72:70:0|1:119499447_G_C:70,0,2221:119499447	14	0	7	0
chr5	139393683	139393683	C	T	exonic	PROB1	.	nonsynonymous SNV	PROB1:NM_001161546:exon1:c.G1399A:p.G467R,	.	.	426	1088	7	1	0	9	0.00411899	.	.	2379311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	.	.	1.000	N	-0.345	N	.	.	-0.990	T	0.033	T	0.1	0.337	5.826	1.72	0.260	0.047	5.852	0.011	0.00232725472628	0.0002	0.000199681	0.0006	0	0	0	0	0.0012	0	0.0004	0.0001552	24	154602	rs377325818	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	6.33e-05	0.0005	0.0044	0	0	0.0023	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.908e-05	0	0	0.0002	0.0023	0	0	0	0.0002	0.0009	0	0.874	0.02581	T	0.356	0.17166	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	.	.	.	1.43	0.00805	N	0.077	0.05162	-0.9897	0.32677	T	0.033	0.14334	T	8	0.004777491	0.00101	T	0.002327	0.04507	T	0.011	0.01250	0.226	0.15109	0.0551355673512	0.04727	0.025325965205608567	0.02483	.	.	0.272533655167	0.06473	T	7.81E-4	0.00376	T	-0.560545	0.00252	T	-0.712959	0.05144	T	0.00663106754038004	0.00074	T	0.446455	0.12522	T	0.030092647	0.02612	0.052207988	0.08557	0.030092647	0.02612	0.052207988	0.08557	-2.255	0.04316	T	.	.	0.094	0.14339	B	.	.	-0.429859	0.02104	0.198	0.5699926620880883	0.05673	0.00256	0.01406	N	AEFDGBCI	0.035713	0.04644	N	-1.34907614716816	0.03134	0.1395339	-1.31407204023235	0.04248	0.1999421	0.999999791667306	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.08	1.72	0.23498	-0.693000	0.05222	-0.217000	0.10799	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.35:0.0:0.65	5.852	0.17948	627	0.65350	.	.	.	.	.	.	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	1424.98	35	chr5	139393683	.	C	T	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.050;DP=1246;ExcessHet=0.0000;FS=1.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=1.08;SOR=0.527	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1439,0,1551	20	0	1	0
chr5	139402648	139402648	C	T	exonic	SPATA24	.	nonsynonymous SNV	SPATA24:NM_194296:exon2:c.G163A:p.A55T,	.	.	417	1085	20	0	0	20	0.00913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.93	P	0.602	P	0.025	N	1.000	N	0.55	N	.	.	-1.066	T	0.060	T	0.236	3.334	17.22	4.93	2.564	3.665	13.509	0.206	.	0.0064	0.00239617	0.0053	0.0014	0.0049	0	0.0013	0.0103	0.0041	0.0021	0.0019857	307	154602	rs192704505	0.0071	0.0068	0.0072	0.0071	0.0209	0.0070	0.0070	0.0178	0.0167	0.0012	0.0075	0.0130	0	0.0030	0.0209	0.0078	0.0087	0.0020	0.0065	0.0065	0.0064	0.0065	0.0094	0.0061	0.0060	0.0085	0.0083	0.0017	0.0274	0.0094	0.0150	0	0.0025	0.0272	0.0091	0.0090	0.0031	0.06	0.37326	T	0.182	0.29249	T	0.93	0.51791	P	0.602	0.50862	P	0.024900	0.26184	N	0.270583	1	0.81001	D	0.55	0.14455	N	.	.	.	-1.27	0.43524	N	0.185	0.23884	-1.0661	0.10293	T	0.060	0.25090	T	9	0.005219817	0.00114	T	.	.	.	0.206	0.49396	.	.	0.0138822411134	0.00435	.	.	.	.	0.425189107656	0.28550	T	0.032149	0.24342	T	-0.426714	0.01552	T	-0.379182	0.35819	T	0.0127884874069859	0.00217	T	0.767423	0.39947	T	0.10647121	0.25176	0.13564953	0.32473	0.10647121	0.25176	0.13564953	0.32473	-4.364	0.35077	T	.	.	0.103	0.18580	B	.;.;.;.;.	.;.;.;.;.	3.370742	0.46582	22.3	0.9977794420324817	0.86519	0.89525	0.50045	D	AEFDBHCI	0.357895	0.44876	N	0.182418017195211	0.50356	3.226291	0.292760391234527	0.55115	3.674992	0.999999999840867	0.74766	0.631981	0.41245	0	0.779548	0.99637	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	4.93	4.93	0.64394	3.698000	0.54504	5.952000	0.51667	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	13.509	0.60956	621	0.65931	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1408.98	34	chr5	139402648	.	C	T	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.820e-01;DP=794;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.498;SOR=0.828	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1423,0,1185	20	0	1	0
chr5	139847936	139847936	T	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon8:c.A2336C:p.Q779P	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.985	D	0.693	P	0.429	U	1.000	D	0	N	-0.35	T	-0.860	T	0.212	T	0.446	0.417	6.266	1.77	0.381	1.781	3.632	0.211	0.815088344226	.	.	0.0011	0	0	0	.	0.0043	0	0	0.0001035	16	154602	rs760621414	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0003	0.0002	3.673e-05	0.0003	0.0058	0	0	0.0010	0.0001	0.0006	4.02e-05	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	9.727e-05	0	0.0002	0.0058	0	0	0	0.0003	0	0.0002	0.46	0.10945	T	0.369	0.18903	T	0.949	0.61118	P	0.496	0.53889	P	0.428849	0.12774	U	0.708168	1	0.81001	D	0.345	0.11182	N	-0.35	0.73845	T	-0.15	0.09297	N	0.149	0.20129	-0.8602	0.51249	T	0.212	0.57241	T	10	0.006616682	0.00150	T	0.815088	0.98560	D	0.211	0.50185	0.133	0.03747	0.799952660033	0.79808	0.3739328722111624	0.37307	1.71028078258	0.90427	0.863665759563	0.91651	D	0.24657	0.61606	T	-0.215619	0.18594	T	-0.247175	0.50095	T	0.101113092732925	0.12479	T	0.773923	0.40554	T	0.13185185	0.30719	0.10547739	0.25357	0.13185185	0.30719	0.10547739	0.25356	-2.043	0.03351	T	.	.	0.074	0.10400	B	.;.;.;.;.;.	.;.;.;.;.;.	3.258622	0.44559	22.0	0.93304160694157223	0.23017	0.38285	0.25954	N	AEFDBHCI	0.177323	0.30456	N	-0.254970591231506	0.30905	1.727755	-0.271741016149002	0.29033	1.623432	0.999978961644167	0.50053	0.455138	0.09556	0	0.609123	0.50646	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.95	1.77	0.23848	1.744000	0.37894	5.922000	0.51181	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2319:0.1972:0.571	3.632	0.07676	22	0.98466	.;.;.;.;.;.	.	.	.	.	.	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	192.98	33	chr5	139847936	.	T	G	192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=694;ExcessHet=0.0000;FS=4.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=0.100;SOR=1.863	GT:AD:DP:GQ:PL	0/1:13,9:22:99:207,0,275	20	0	1	0
chr5	140360317	140360317	C	G	exonic	SLC4A9	.	nonsynonymous SNV	SLC4A9:NM_001258426:exon1:c.C81G:p.S27R	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.924	P	0.466	P	0.007	N	1.000	N	0.55	N	-1.01	T	-0.640	T	0.336	T	0.216	2.460	14.19	-4.94	-0.876	-0.756	13.470	0.311	0.0103275213927	.	.	7.901e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs765949112	1.301e-05	1.3e-05	1.226e-05	1.377e-05	0.0002	8.32e-06	6.71e-06	8.11e-06	6.43e-06	0	0	0	0	0	0.0002	1.35e-05	1.658e-05	2.332e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.111	0.38450	T	0.874	0.48047	P	0.466	0.46637	P	0.007225	0.01159	N	3.231360	1	0.08975	N	1.28	0.32218	L	-1.22	0.81399	T	-0.91	0.24898	N	0.159	0.18239	-0.6402	0.63137	T	0.336	0.70256	T	10	0.09051636	0.15776	T	0.010328	0.26741	T	0.311	0.63269	0.147	0.05039	0.466059976078	0.46230	0.266010349262904	0.26514	.	.	0.330199480057	0.14965	T	0.126405	0.45276	T	-0.211804	0.19125	T	-0.349683	0.39240	T	0.202151775360107	0.20534	T	0.541246	0.18358	T	0.3246632	0.55030	0.25761533	0.51481	0.3246632	0.55030	0.25761533	0.51480	-4.211	0.27584	T	.	.	0.130	0.33891	B	.;.;.;.	.;.;.;.	0.860931	0.12332	8.873	0.9820884803896891	0.39193	0.03018	0.07894	N	AEFDHI	0.051080	0.08989	N	-1.1917251824511	0.05124	0.2328723	-1.36339669100064	0.03650	0.1707241	0.999852710224996	0.44174	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.66	-4.94	0.02830	-0.756000	0.04882	.	.	-0.445000	0.05159	0.000000	0.06391	0.001000	0.17328	0.030000	0.13115	0.0:0.7128:0.0:0.2872	13.470	0.60731	180	0.92993	.;.;.;.	.	.	.	.	.	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	1286.98	34	chr5	140360317	.	C	G	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e-01;DP=790;ExcessHet=0.0000;FS=2.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-1.030e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1301,0,1029	20	0	1	0
chr5	140551983	140551983	C	G	exonic	SRA1	.	nonsynonymous SNV	SRA1:NM_001035235:exon3:c.G353C:p.R118T,	.	.	.	.	.	.	.	.	.	0.0001	0.106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	B	0.078	B	0.048	U	1.000	N	0.345	N	1.02	T	-1.012	T	0.054	T	0.12	1.239	10.03	-2.52	-0.354	0.348	11.613	0.041	0.00952525607919	.	.	1.666e-05	0	0	0	0	3.015e-05	0	0	1.29e-05	2	154602	rs776684988	1.368e-06	1.368e-06	0	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	0.393	0.15355	T	0.049	0.22227	B	0.078	0.28627	B	0.048479	0.23249	U	0.413152	0.999974	0.18612	N	1.385	0.34509	L	1.02	0.40749	T	-1.55	0.37566	N	0.34	0.38129	-1.0120	0.26291	T	0.054	0.22693	T	9	0.15706569	0.29567	T	0.009525	0.24924	T	0.041	0.10877	0.612	0.74535	0.277730125212	0.27379	0.362334424999958	0.36147	0.0405624064642	0.04348	.	.	.	0.008172	0.07514	T	-0.269295	0.11836	T	-0.609114	0.12057	T	0.0780497983729855	0.09736	T	0.682032	0.29067	T	0.28457317	0.51483	0.19588597	0.43290	0.28457317	0.51483	0.19588597	0.43289	-8.932	0.67258	D	.	.	0.158	0.34862	B	.	.	2.579989	0.33447	19.34	0.76071819971415067	0.11322	0.44663	0.27367	N	AEFDBCI	0.223932	0.34822	N	-0.898909738316224	0.10868	0.521527	-0.794543663318749	0.14628	0.7653404	0.994850932945683	0.33832	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.75	-2.52	0.05978	0.357000	0.19935	.	.	-0.919000	0.02208	0.996000	0.39380	0.987000	0.30940	0.637000	0.32341	0.0:0.2823:0.0:0.7177	11.613	0.50327	207	0.91931	.	.	.	.	.	.	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	431.98	33	chr5	140551983	.	C	G	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.870e-01;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.91;ReadPosRankSum=0.033;SOR=0.637	GT:AD:DP:GQ:PL	0/1:64,24:88:99:446,0,1699	20	0	1	0
chr5	140877285	140877285	G	T	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G1813T:p.A605S	.	.	417	1073	31	1	0	33	0.0151446	.	.	2825288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.989	D	.	.	1.000	D	2.175	M	1.18	T	-0.721	T	0.168	T	0.331	3.612	18.38	4.71	2.156	3.954	17.27	0.276	0.0197981711577	0.0036	0.00279553	0.0040	0.0006	0.0010	0.0001	0.0020	0.0054	0.0033	0.0055	0.0041073	635	154602	rs76220347	0.0047	0.0047	0.0045	0.0049	0.0073	0.0046	0.0046	0.0056	0.0049	0.0007	0.0018	0.0087	2.519e-05	0.0016	0.0073	0.0051	0.0043	0.0054	0.0036	0.0036	0.0038	0.0034	0.0057	0.0033	0.0032	0.0052	0.0051	0.0006	0	0.0035	0.0086	0	0.0019	0.0034	0.0057	0.0033	0.0041	0.028	0.46129	D	0.052	0.47581	T	1.0	0.90584	D	0.954	0.78396	D	.	.	.	.	1	0.81001	D	1.64	0.41913	L	1.18	0.37746	T	-2.72	0.57920	D	0.213	0.25989	-0.7210	0.59414	T	0.168	0.50794	T	9	0.012135804	0.00262	T	0.019798	0.42253	T	0.276	0.59253	.	.	0.734974895143	0.73260	0.2244262043726725	0.22357	.	.	0.780401825905	0.78988	T	0.077468	0.35662	T	-0.437357	0.01340	T	-0.39909	0.33490	T	0.0216165376161506	0.00866	T	0.855914	0.55285	D	0.23279963	0.46074	0.28168145	0.54151	0.23279963	0.46074	0.28168145	0.54150	-9.022	0.69146	D	.	.	0.160	0.35310	B	.;.	.;.	3.454221	0.48119	22.6	0.99504588519091897	0.68264	0.97990	0.78686	D	AEFDBI	0.708097	0.66262	D	0.558929894263973	0.70627	5.529476	0.493415732069027	0.67551	5.099412	0.999999998772093	0.74766	0.475244	0.09938	2	0.588015	0.36545	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.71	4.71	0.59010	3.147000	0.50335	.	.	0.590000	0.31872	0.998000	0.41325	0.003000	0.18671	0.787000	0.37188	0.0:0.0:1.0:0.0	17.27	0.86984	67	0.97183	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	8178.11	37	chr5	140877285	.	G	T	8178.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=7.30;DP=1353;ExcessHet=0.1072;FS=8.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.848;SOR=0.948	GT:AD:DP:GQ:PL	0/1:149,121:270:99:3403,0,4022	19	0	2	0
chr5	141201807	141201807	C	A	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2033A:p.P678Q,	.	.	168	1321	32	1	0	34	0.0127055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.013	B	0.02	B	.	.	1.000	N	2.06	M	0.8	T	-0.928	T	0.088	T	0.145	0.458	6.488	-2.14	-0.248	-1.842	0.535	0.056	.	0.0027	0.00399361	0.0039	0.0004	0.0004	0.0001	0.0027	0.0040	0.0067	0.0097	0.0035381	547	154602	rs141800205	0.0040	0.0039	0.0036	0.0043	0.0102	0.0039	0.0038	0.0096	0.0094	0.0003	0.0016	0.0069	0	0.0020	0.0085	0.0038	0.0036	0.0102	0.0033	0.0033	0.0031	0.0036	0.0087	0.0031	0.0030	0.0066	0.0059	0.0005	0	0.0039	0.0078	0	0.0024	0.0102	0.0047	0.0014	0.0087	0.201	0.20306	T	0.207	0.35840	T	0.013	0.16609	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	0.8	0.48769	T	-3.23	0.65056	D	0.087	0.11769	-0.9282	0.44400	T	0.088	0.34078	T	9	0.0062874258	0.00142	T	.	.	.	0.056	0.15993	.	.	0.424430313326	0.42057	0.21207624426873645	0.21123	0.218745738451	0.24414	0.432624101639	0.29567	T	0.027678	0.20215	T	-0.618637	0.00112	T	-0.652011	0.08814	T	0.00542685166688873	0.00059	T	0.467153	0.14032	T	0.035338838	0.04141	0.072137386	0.15528	0.035338838	0.04141	0.072137386	0.15528	-9.301	0.70254	D	.	.	0.078	0.08368	B	.;.	.;.	1.146609	0.15341	11.78	0.54837505654297913	0.05218	0.01440	0.04836	N	AEFDI	0.031168	0.03277	N	-1.00260200278716	0.08550	0.401287	-1.15715369112361	0.06640	0.3203102	0.00276586595352238	0.09691	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.77	-2.14	0.06725	-1.779000	0.01874	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4176:0.2069:0.1464:0.229	0.535	0.00593	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3638.11	43	chr5	141201807	.	C	A	3638.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.91;DP=1498;ExcessHet=0.1072;FS=3.594;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.71;MQRankSum=1.06;QD=14.97;ReadPosRankSum=1.09;SOR=0.917	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1648,0,1407	19	0	2	0
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	0/1:133,58:191:99:.:.:629,0,3119	1	0	20	0
chr5	141371524	141371524	G	A	exonic	PCDHGB3	.	nonsynonymous SNV	PCDHGB3:NM_018924:exon1:c.G1130A:p.G377E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0232434082068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs991848334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.36497	T	0.848	0.60036	P	0.764	0.56720	P	.	.	.	.	1	0.81001	D	2.3	0.65703	M	1.69	0.27032	T	.	.	.	0.294	0.33250	.	.	.	.	.	.	.	0.273821	0.44933	T	0.023243	0.46189	T	.	.	.	.	0.797071102372	0.79518	0.16412529570198028	0.16332	0.943980234516	0.72329	.	.	.	0.190057	0.54447	T	-0.130574	0.31404	T	-0.425337	0.30466	T	.	.	.	0.724128	0.37862	T	0.36411452	0.58147	0.42829463	0.66547	0.36411452	0.58147	0.42829463	0.66547	-8.305	0.63129	D	.	.	0.222	0.50129	B	.;.	.;.	2.711741	0.35449	19.90	0.99195775189883928	0.55112	0.67248	0.33364	D	AEFBI	0.208548	0.33462	N	.	.	.	.	.	.	0.753841636206727	0.23402	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	4.88	3.09	0.34677	1.202000	0.31878	.	.	0.676000	0.76740	0.861000	0.30630	0.138000	0.23065	0.934000	0.47231	0.152:0.0:0.848:0.0	11.043	0.47059	650	0.62973	Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	1813.98	34	chr5	141371524	.	G	A	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=1158;ExcessHet=0.0000;FS=1.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=-1.067e+00;SOR=0.563	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1828,0,1690	20	0	1	0
chr5	141415642	141415642	-	A	exonic	PCDHGA10	.	frameshift insertion	PCDHGA10:NM_032090:exon1:c.2467dupA:p.I827Dfs*6,	.	.	49	1321	16	0	136	152	0.00601956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	775.05	47	chr5	141415641	.	TA	T,TAA	775.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.308;DP=1080;ExcessHet=0.1072;FS=8.908;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.88;MQRankSum=0.00;QD=5.13;ReadPosRankSum=1.14;SOR=1.384	GT:AD:DP:GQ:PL	0/2:37,2,32:71:99:645,792,1976,0,869,837	19	0	1	0
chr5	141432598	141432598	G	C	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.G1839C:p.E613D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.325	B	0.246	B	.	.	1.000	N	-0.055	N	0.57	T	-1.000	T	0.073	T	0.044	0.054	4.295	2.96	1.186	0.564	5.745	0.089	0.0136008971102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.11807	T	0.552	0.09361	T	0.057	0.33132	B	0.065	0.38861	B	.	.	.	.	1	0.81001	D	-0.315	0.03579	N	0.57	0.54347	T	-2.62	0.56301	D	0.089	0.06720	-1.0004	0.29803	T	0.073	0.29419	T	9	0.06712723	0.09308	T	0.013601	0.33126	T	0.089	0.25827	0.51	0.60693	0.503559190036	0.49993	0.29795961743295085	0.29708	.	.	.	.	.	0.059824	0.31219	T	-0.288976	0.09739	T	-0.652871	0.08754	T	0.0746343158082267	0.09286	T	0.814918	0.46941	T	0.14320628	0.32923	0.106493875	0.25619	0.14320628	0.32923	0.106493875	0.25619	-6.333	0.50633	T	.	.	0.146	0.32275	B	.;.	.;.	1.581755	0.20241	14.66	0.90173180283377885	0.19450	0.89812	0.50522	D	AEFBHI	0.482943	0.52359	N	-0.484899516627906	0.22575	1.206398	-0.321063273877488	0.27418	1.521326	0.947301661752243	0.27746	0.676563	0.55306	0	0.573888	0.26702	0	0.578056	0.29568	0	0.600526	0.37237	0	.	.	4.89	2.96	0.33383	-0.003000	0.12836	.	.	-0.212000	0.08331	0.174000	0.23986	0.000000	0.08366	0.416000	0.27139	0.0774:0.1382:0.6415:0.1429	5.745	0.17386	813	0.42397	.;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	0.02381	1769.98	34	chr5	141432598	.	G	C	1769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.729e+00;DP=1064;ExcessHet=0.0000;FS=4.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.18;MQRankSum=1.06;QD=15.95;ReadPosRankSum=0.158;SOR=0.358	GT:AD:DP:GQ:PL	0/1:48,63:111:99:1784,0,1315	20	0	1	0
chr5	141956015	141956015	A	G	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon1:c.T1837C:p.S613P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.003	B	0.054	N	1.000	N	-0.115	N	0.62	T	-1.037	T	0.051	T	0.127	-0.181	3.117	1.8	0.166	.	6.823	0.016	0.00369999529651	.	.	3.296e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs773781108	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0002	8.31e-06	6.7e-06	8.52e-06	6.89e-06	0	0	0	0	0	0.0002	1.439e-05	3.311e-05	0	1.315e-05	1.313e-05	1.285e-05	1.347e-05	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	0.27	0.16038	T	0.202	0.27414	T	0.0	0.02946	B	0.003	0.08700	B	0.053977	0.22763	N	0.472775	1	0.08975	N	0.49	0.13296	N	0.62	0.53302	T	-0.12	0.08809	N	0.041	0.01421	-1.0369	0.18264	T	0.051	0.21883	T	10	0.049031913	0.04434	T	0.004	0.08558	T	0.016	0.02506	0.389	0.41115	0.378847511475	0.37492	0.6517313784560373	0.65109	0.232908770119	0.25826	0.287970304489	0.08627	T	0.02852	0.20643	T	-0.356491	0.04332	T	-0.593485	0.13365	T	0.029530595061371	0.01918	T	0.529847	0.17555	T	0.09499116	0.22347	0.124194965	0.29938	0.09499116	0.22347	0.124194965	0.29937	-3.628	0.18263	T	.	.	0.065	0.02012	B	.	.	1.137887	0.15248	11.71	0.85588789633142937	0.15987	0.02269	0.06554	N	AEFDBI	0.101214	0.20333	N	-0.903934575833317	0.10749	0.5152235	-0.806753438877462	0.14333	0.7483186	0.99972146052129	0.42220	0.615465	0.37627	0	0.547309	0.14657	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.38	1.8	0.24069	0.071000	0.14461	.	.	0.756000	0.94297	0.002000	0.15269	0.962000	0.29361	0.977000	0.56843	0.7501:0.0:0.2499:0.0	6.823	0.23052	873	0.30802	.	.	.	.	.	.	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	1995.98	111	chr5	141956015	.	A	G	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.407e+00;DP=2720;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.201e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/1:87,77:164:99:2010,0,2409	20	0	1	0
chr5	149233301	149233301	G	A	splicing	ABLIM3	NM_001345860:exon10:c.888+1G>A;NM_001301018:exon10:c.888+1G>A;NM_001345859:exon10:c.888+1G>A;NM_001345858:exon10:c.888+1G>A;NM_014945:exon10:c.888+1G>A;NM_001301015:exon9:c.888+1G>A;NM_001345861:exon9:c.888+1G>A;NM_001301028:exon9:c.888+1G>A;NM_001370418:exon9:c.888+1G>A;NM_001370417:exon9:c.888+1G>A	.	.	.	.	430	1091	1	0	0	1	0.000458085	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.490	24.1	6.04	2.873	8.850	20.595	.	.	.	.	2.471e-05	0	0.0002	0	0	1.498e-05	0	0	1.94e-05	3	154602	rs757993248	1.916e-05	1.915e-05	1.906e-05	1.925e-05	0.0002	1.328e-05	1.144e-05	1.779e-05	1.03e-05	0	6.708e-05	0	0	0	0.0002	1.889e-05	1.656e-05	2.319e-05	4.601e-05	4.597e-05	2.57e-05	6.728e-05	7.351e-05	2.11e-05	1.527e-05	2.847e-05	1.858e-05	4.828e-05	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346928	0.86300	D	0.436408	0.93226	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	6.837334	0.95803	35	0.9950316503924227	0.68147	0.99110	0.91373	D	AEFBI	.	.	.	1.26185006185151	0.99919	31.13643	1.13942550659792	0.99940	32.43528	0.999999999999998	0.74766	0.099367	0.02607	0	0.085267	0.02369	0	0.056003	0.00319	0	0.117559	0.03655	0	0.990436	0.99010	6.04	6.04	0.98025	8.977000	0.93019	9.996000	0.83014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.595	0.99442	746	0.52331	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2364.98	35	chr5	149233301	.	G	A	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=945;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-3.710e-01;SOR=0.848	GT:AD:DP:GQ:PL	0/1:138,99:237:99:2379,0,3311	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	0/1:86,38:136:99:146,0,1576	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	1/2:0,200,265:465:99:.:.:20155,10940,10328,8234,0,7337	0	12	1	0
chr5	160276410	160276410	C	T	exonic	CCNJL	.	nonsynonymous SNV	CCNJL:NM_024565:exon4:c.G283A:p.G95R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.287	B	0.029	B	0.031	U	1.000	N	0	N	2.65	T	-1.015	T	0.016	T	0.393	-0.663	1.096	0.113	0.184	-0.999	.	0.037	0.00180990285966	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs554976694	0	1.431e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	0	0	3.471e-05	4.055e-05	2.69e-05	4.305e-05	0.0002	1.315e-05	8.37e-06	4.96e-06	1.86e-06	2.627e-05	0	0	0	0.0002	0	0	2.991e-05	0	0.0002	0.363	0.11807	T	0.277	0.21880	T	0.287	0.32229	B	0.029	0.21540	B	0.031393	0.01735	U	302.096000	1	0.08975	N	0	0.06538	N	2.65	0.12676	T	0.11	0.05706	N	0.231	0.25989	-1.0150	0.25336	T	0.016	0.06664	T	9	0.0389466	0.02348	T	0.00181	0.03115	T	0.037	0.09474	0.462	0.53079	0.221019684889	0.21715	0.23104627114401188	0.23019	0.294749627	0.31892	0.398734122515	0.24893	T	0.001193	0.00692	T	-0.258151	0.13117	T	-0.608592	0.12099	T	0.109888426959515	0.13412	T	0.168983	0.01576	T	0.04673832	0.07874	0.09300769	0.21946	0.04673832	0.07874	0.09300769	0.21946	-2.459	0.05507	T	.	.	0.280	0.55754	B	.;.	.;.	0.901238	0.12752	9.270	0.41196088321703528	0.02956	0.00191	0.01107	N	AEFBI	0.057681	0.10764	N	-1.27890543523831	0.03930	0.1764748	-1.38761666779434	0.03383	0.1576957	0.102988766846397	0.16433	0.475973	0.10046	0	0.547309	0.14657	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	0.113	0.113	0.13937	-0.997000	0.03816	-3.804000	0.02526	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	910	0.22284	Cyclin-like;Cyclin-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	1	0	0	0	0.025	225.34	40	chr5	160276410	.	C	T	225.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.255;DP=645;ExcessHet=0.0000;FS=5.752;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=6.83;ReadPosRankSum=2.08;SOR=1.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,11:33:99:1|0:160276387_C_T:239,0,721:160276387	19	0	1	1
chr5	175968055	175968055	G	-	exonic	THOC3	.	frameshift deletion	THOC3:NM_001376902:exon1:c.154delC:p.L52Wfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs11297802	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.641e-06	0.0004	1.298e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	79.94	34	chr5	175968054	.	AG	A	79.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=741;ExcessHet=0.0000;FS=10.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.09;MQRankSum=-4.363e+00;QD=1.43;ReadPosRankSum=-3.739e+00;SOR=3.160	GT:AD:DP:GQ:PL	0/1:49,7:56:94:94,0,1656	20	0	1	0
chr5	176384078	176384078	C	T	exonic	NOP16	.	nonsynonymous SNV	NOP16:NM_001256539:exon5:c.G602A:p.R201H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.001	N	1.000	N	.	.	.	.	-1.009	T	0.077	T	.	0.246	5.330	-7.37	-3.347	-0.722	2.125	0.045	.	.	.	0.0002	0	0	0	0	0.0006	0	0	3.88e-05	6	154602	rs776470859	3.967e-05	4.036e-05	3.597e-05	4.342e-05	0.0002	3.1e-05	2.831e-05	3.916e-05	3.514e-05	0	0	0	0	0	0.0002	4.98e-05	0	1.184e-05	5.924e-05	5.912e-05	7.722e-05	4.042e-05	0.0001	3.082e-05	2.214e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.6	0.07972	T	.	.	.	.	.	.	0.001406	0.00781	N	4.856940	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.103	0.08646	-1.0089	0.27261	T	0.077	0.30859	T	6	0.051463008	0.05031	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.04680254068975751	0.04623	.	.	.	.	.	0.003154	0.02556	T	-0.495858	0.00603	T	-0.774195	0.02633	T	0.044076672969173	0.04434	T	0.445455	0.12454	T	.	.	.	.	.	.	.	.	-4.284	0.27952	T	.	.	0.075	0.05404	B	.;.	.;.	-0.454564	0.02017	0.180	0.82582427401978442	0.14267	0.08349	0.14290	N	AEFBCI	0.003825	0.00001	N	-1.23954878767946	0.04438	0.2003309	-1.50416940092212	0.02312	0.1061286	0.999999973162701	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	3.68	-7.37	0.01266	-2.015000	0.01536	0.168000	0.15485	-0.567000	0.04800	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1403:0.1996:0.3936:0.2664	2.125	0.03508	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	1	0	0	0	0.02381	1826.98	43	chr5	176384078	.	C	T	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=924;ExcessHet=0.0000;FS=0.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=0.051;SOR=0.769	GT:AD:DP:GQ:PL	0/1:104,76:180:99:1841,0,2735	20	0	1	0
chr5	178224477	178224477	C	T	exonic	PHYKPL	.	nonsynonymous SNV	PHYKPL:NM_001278346:exon6:c.G466A:p.V156I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.002	N	1.000	D	-1.125	N	2.36	T	-0.973	T	0.021	T	0.089	0.224	5.209	1.17	0.187	1.235	7.343	0.049	0.00497580290958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002293	0.36846	N	0.291936	0.940718	0.26800	N	-1.37	0.00637	N	2.36	0.36512	T	0.44	0.03889	N	0.161	0.16864	-0.9729	0.36583	T	0.021	0.09009	T	10	0.045309454	0.03586	T	0.004976	0.12535	T	0.049	0.13647	0.415	0.45380	0.252681307341	0.24864	0.3484384183988953	0.34757	0.0680759038335	0.07622	0.322125077248	0.13743	T	0.113751	0.43103	T	-0.30336	0.08346	T	-0.673532	0.07384	T	0.0703532621264458	0.08700	T	0.616838	0.23687	T	0.03930851	0.05401	0.030480627	0.01508	0.03930851	0.05401	0.030480627	0.01508	-0.888	0.00884	T	0.054055251744891605	0.01128	0.088	0.12702	B	.;.	.;.	0.931140	0.13067	9.567	0.46096226365659265	0.03667	0.63192	0.32013	D	AEFDBCI	0.115496	0.22706	N	-0.928445910042037	0.10181	0.4852938	-0.730748121376766	0.16197	0.8556597	0.999813602905349	0.43459	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.636168	0.56350	0	.	.	6.06	1.17	0.19998	1.240000	0.32334	0.114000	0.14823	0.587000	0.30956	0.973000	0.34540	0.670000	0.26062	0.963000	0.52385	0.0:0.4797:0.0:0.5203	7.343	0.25819	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	860.98	34	chr5	178224477	.	C	T	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=759;ExcessHet=0.0000;FS=6.944;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=0.125;SOR=1.644	GT:AD:DP:GQ:PL	0/1:41,31:72:99:875,0,1116	20	0	1	0
chr5	179643209	179643209	A	G	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.T343C:p.C115R	.	.	428	1078	16	0	0	16	0.00736648	0.0002	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.001	B	.	.	1.000	N	0.55	N	2.08	T	-0.979	T	0.024	T	0.372	-1.735	0.011	-1.48	-1.073	-1.241	.	0.042	0.00118552205494	.	0.000399361	0.0016	0	0	0.0019	0	0.0037	0	0.0003	0.0004786	74	154602	rs557513997	0.0017	0.0033	0.0017	0.0017	0.0037	0.0016	0.0016	0.0026	0.0024	0.0010	0.0030	0.0029	0.0011	0.0034	0.0037	0.0016	0.0021	0.0003	0.0028	0.0037	0.0031	0.0025	0.0038	0.0026	0.0025	0.0034	0.0033	0.0010	0	0.0032	0.0040	0.0012	0.0051	0.0034	0.0038	0.0024	0	.	.	.	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	.	.	.	.	.	.	.	.	-0.9789	0.35254	T	0.024	0.10239	T	8	0.0059596896	0.00134	T	0.001186	0.01509	T	.	.	.	.	.	.	0.0804678863194495	0.07981	.	.	.	.	.	.	.	.	-0.246973	0.14473	T	-0.592536	0.13446	T	0.0185319553198107	0.00569	T	0.215078	0.02668	T	.	.	.	.	.	.	.	.	-1.367	0.01513	T	.	.	.	.	.	.	.	-0.211384	0.03032	0.465	0.13934451193606925	0.00291	0.00032	0.00291	N	AEFBI	0.025095	0.01660	N	-1.6959820428029	0.00856	0.037037	-1.79885500045798	0.00763	0.03401895	3.55767282508773E-5	0.03775	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	0.742	-1.48	0.08286	-0.708000	0.05138	-5.002000	0.01891	-2.297000	0.00323	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	154.02	18	chr5	179643209	.	A	G	154.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=473;ExcessHet=0.0000;FS=6.368;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=42.59;MQRankSum=-1.846e+00;QD=10.27;ReadPosRankSum=-2.450e-01;SOR=2.964	GT:AD:DP:GQ:PL	0/1:10,5:15:99:168,0,261	20	0	1	0
chr6	348877	348877	C	A	exonic	DUSP22	.	nonsynonymous SNV	DUSP22:NM_001286555:exon7:c.C544A:p.P182T,	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.871	N	.	.	.	.	-1.045	T	0.037	T	.	0.169	4.909	3.92	1.108	1.122	5.043	0.037	0.00282392653242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.06598	T	0.002	0.09854	B	0.007	0.12992	B	.	.	.	.	0.871083	0.28205	N	.	.	.	3.71	0.04046	T	.	.	.	0.354	0.39558	.	.	.	.	.	.	.	0.124480546	0.23644	T	0.002824	0.05898	T	.	.	.	.	0.270447802918	0.26645	0.26412170697039916	0.26325	.	.	.	.	.	.	.	.	-0.281886	0.10469	T	-0.642686	0.09475	T	0.0597336034027656	0.07126	T	0.477752	0.16548	T	.	.	.	.	.	.	.	.	-4.399	0.29544	T	.	.	0.063	0.02285	B	.;.;.;.	.;.;.;.	1.170479	0.15603	11.97	0.14569133352181632	0.00326	0.64127	0.32307	D	AEFBCI	0.117534	0.23021	N	-0.209564684632853	0.32740	1.849885	-0.280565782770342	0.28739	1.604705	0.999957482668174	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	4.8	3.92	0.44525	1.147000	0.31213	1.119000	0.24226	0.599000	0.40250	0.963000	0.33788	0.058000	0.21979	0.001000	0.02609	0.1529:0.6203:0.1477:0.0791	5.043	0.13806	914	0.21048	.;.;.;.	.	.	.	.	.	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	1829.98	34	chr6	348877	.	C	A	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=919;ExcessHet=0.0000;FS=1.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-6.700e-02;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,54:181:99:0|1:348876_G_A:1844,0,5081:348876	20	0	1	0
chr6	20212189	20212191	CCG	-	exonic	MBOAT1	.	nonframeshift deletion	MBOAT1:NM_001080480:exon1:c.44_46del:p.T15_G16delinsS,	.	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000599042	0.0005	0.0001	0.0006	0	0	0.0006	0	0.0005	0.0003687	57	154602	rs572147520	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0012	0.0002	0.0006	0.0006	0	0	0.0026	0.0003	0.0007	0.0003	0.0003	0.0003	0.0004	0.0002	0.0008	0.0002	0.0002	0.0005	0.0004	9.621e-05	0	0.0008	0.0012	0	0	0	0.0004	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	810.94	39	chr6	20212188	.	CCCG	C	810.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.287;DP=819;ExcessHet=0.0000;FS=4.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.27;ReadPosRankSum=-4.370e-01;SOR=1.671	GT:AD:DP:GQ:PL	0/1:19,21:40:99:825,0,730	20	0	1	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	0/1:31,14,11:56:99:166,0,457,147,428,637	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	0/1:31,14,11:56:99:166,0,457,147,428,637	2	0	6	2
chr6	26405959	26405959	G	A	exonic	BTN3A1	.	nonsynonymous SNV	BTN3A1:NM_001145008:exon3:c.G136A:p.E46K	.	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.996	D	.	.	1.000	N	1.695	L	4.04	T	-0.991	T	0.010	T	0.235	3.551	18.11	-1.02	-0.280	0.301	2.072	0.030	.	.	0.00179712	0.0017	0	0.0002	0.0002	0	6.02e-05	0.0011	0.0123	0.0014424	223	154602	rs564000550	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0008	0.0136	0.0133	0	2.35e-05	0	0.0001	0	0.0009	2.616e-05	0.0009	0.0142	0.0004	0.0004	0.0002	0.0005	0.0104	0.0003	0.0003	0.0081	0.0073	4.826e-05	0	0	0	0.0002	0	0.0034	4.41e-05	0	0.0104	0.364	0.42487	T	0.007	0.70582	D	0.068	0.26641	B	0.064	0.29270	B	.	.	.	.	1	0.08975	N	1.76	0.45711	L	4.04	0.03121	T	-1.87	0.60827	N	0.112	0.20129	-0.9912	0.32295	T	0.010	0.03856	T	9	0.006637186	0.00150	T	.	.	.	0.030	0.07022	.	.	0.263140351381	0.25927	0.5319193161700891	0.53116	0.646648351517	0.58073	0.386672407389	0.23199	T	0.006097	0.05539	T	-0.577029	0.00201	T	-0.590607	0.13614	T	0.036023576240025	0.02985	T	0.890711	0.67446	D	0.11151186	0.26351	0.07448187	0.16297	0.11151186	0.26350	0.07448187	0.16297	-6.86	0.53447	T	.	.	0.093	0.21950	B	.;.;.;.;.;.	.;.;.;.;.;.	1.516559	0.19477	14.28	0.99689232570207986	0.79842	0.03079	0.07995	N	AEFBI	0.059188	0.11158	N	-0.876245709188363	0.11410	0.5504432	-1.02213968921651	0.09299	0.4618472	0.999448181620557	0.39736	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	2.21	-1.02	0.09618	0.561000	0.23220	0.418000	0.18188	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.596000	0.31288	0.3356:0.0:0.4086:0.2558	2.072	0.03396	684	0.59539	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5189.98	112	chr6	26405959	.	G	A	5189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.549e+00;DP=2192;ExcessHet=0.0000;FS=1.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.69;MQRankSum=-8.190e-01;QD=12.78;ReadPosRankSum=0.396;SOR=0.696	GT:AD:DP:GQ:PL	0/1:193,213:406:99:5204,0,4756	20	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.025	B	0.035	B	0.056	N	0.853	N	2.015	M	1.98	T	-1.009	T	0.021	T	0.046	2.299	13.64	2.64	0.628	1.417	7.159	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	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	0.1562	569.39	60	chr6	27310582	.	G	A	569.39	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.043e+00;DP=1543;ExcessHet=1.1607;FS=221.345;InbreedingCoeff=-0.2306;MLEAC=6;MLEAF=0.188;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.47;SOR=10.307	GT:AD:DP:GQ:PL	0/1:46,20:66:74:74,0,1125	11	0	5	5
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|1:75,8,0:83:99:0|1:29943377_C_A:110,0,3105,336,3129,3465:29943377	6	0	13	1
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8675.72	395	chr6	31026275	.	A	T,*	8675.72	.	AC=1,8;AF=0.024,0.190;AN=42;BaseQRankSum=-4.499e+00;DP=9847;ExcessHet=0.9430;FS=5.229;InbreedingCoeff=0.0101;MLEAC=1,8;MLEAF=0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=2.13;ReadPosRankSum=0.273;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:308,0,135:443:99:0|1:31026245_ACCACAGGCT_A:4741,5669,18601,0,12933,12526:31026245	13	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:415,365,0:780:99:0|1:31028713_C_T:13481,0,15529,14730,16627,31357:31028713	9	2	8	0
chr6	31029811	31029811	-	GCAGGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4380_4381insGCAGGC:p.T1460_S1461insAG	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28994679	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0053	0.0046	0.0004	0.0019	0.0047	0.0004	0.0061	0.0071	0.0013	0.0023	0.0048	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0.0014	0.0005	0.0015	0.0002	0.0008	0	0.0008	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:324,564,0:888:99:.:.:10066,0,8243,11041,9565,20606	16	0	3	0
chr6	31029811	31029811	T	0	exonic	MUC22	.	.	.	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:324,564,0:888:99:.:.:10066,0,8243,11041,9565,20606	16	0	3	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:322,2,564,0:888:99:.:.:11149,11367,26580,0,10207,8129,11929,24402,10168,24139	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:322,2,564,0:888:99:.:.:11149,11367,26580,0,10207,8129,11929,24402,10168,24139	8	0	6	2
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:140,0,158:298:99:0|1:31138722_G_A:6154,6576,12354,0,5778,5303:31138722	4	3	9	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	1/1:1,101,0:102:99:.:.:3079,295,0,3082,302,3089	0	13	5	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.13	B	0.172	B	0.034	N	1.000	N	1.92	M	9.23	T	-1.055	T	0.000	T	0.632	-0.747	0.827	-5.41	-1.558	-0.230	10.604	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2562.44	178	chr6	31271120	.	C	G	2562.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.483e+00;DP=3459;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=54.11;MQRankSum=-2.934e+00;QD=3.07;ReadPosRankSum=2.86;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:135,32:167:99:.:.:474,0,3898	16	0	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	1/2:29,52,65,33:179:99:.:.:2634,730,2642,965,0,1946,1496,1395,771,3462	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|1:139,20:159:99:0|1:31355338_T_C:421,0,5602:31355338	14	0	6	1
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G,	.	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.017	N	0.986	N	-3.21	N	4.34	T	-1.015	T	0.000	T	0.312	0.549	6.971	1.33	0.182	0.951	7.857	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	0.2381	3496.72	194	chr6	31355425	.	T	C	3496.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.611;DP=3822;ExcessHet=6.1002;FS=21.379;InbreedingCoeff=-0.3069;MLEAC=10;MLEAF=0.238;MQ=58.03;MQRankSum=-1.346e+01;QD=1.73;ReadPosRankSum=-2.710e-01;SOR=1.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,43:204:99:0|1:31355425_T_C:967,0,6303:31355425	11	0	10	0
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|1:0,45,0:45:99:1|1:31356168_A_C:2025,135,0,2025,135,2025:31356168	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	1/2:2,39,19:60:99:.:.:2097,704,668,1343,0,1580	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	1|2:0,32,40:72:99:0|1:31356431_G_*:2994,1680,1605,1316,0,1212:31356431	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	1|2:0,16,23:39:99:0|1:31356712_C_A:1683,945,888,675,0,603:31356712	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	1|2:0,24,18:42:99:0|1:31356715_GC_G:1764,721,643,978,0,915:31356715	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	1|2:0,18,24:42:99:0|1:31356712_C_A:1764,978,915,721,0,643:31356712	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|1:0,59,0:59:99:1|1:31356729_C_T:2655,178,0,2655,178,2655:31356729	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	1|2:0,36,73:109:99:0|1:31356827_T_C:4577,3065,2957,1511,0,1291:31356827	0	5	0	0
chr6	31411341	31411341	G	A	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon3:c.G595A:p.V199I	.	.	409	1063	48	2	0	52	0.0238751	.	.	2822873	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.006	B	0.006	B	0.016	N	1.000	N	1.245	L	5.62	T	-0.908	T	0.001	T	0.079	0.005	4.039	-1.24	-0.332	-0.014	4.903	0.015	.	0.0035	0.00199681	0.0054	0.0003	0.0052	0.0024	0.0016	0.0050	0.0266	0.0091	0.0028848	446	154602	rs41549718	0.0027	0.0027	0.0023	0.0030	0.0199	0.0026	0.0026	0.0170	0.0159	0.0004	0.0030	0.0003	0.0008	0.0016	0.0199	0.0023	0.0031	0.0090	0.0024	0.0024	0.0021	0.0028	0.0062	0.0022	0.0021	0.0045	0.0039	0.0005	0.0088	0.0038	0.0006	0.0006	0.0014	0.0102	0.0032	0.0052	0.0062	0.077	0.34095	T	0.218	0.26066	T	0.002	0.09854	B	0.003	0.08700	B	0.015888	0.01428	N	3.637770	1	0.08975	N	.	.	.	5.62	0.00808	T	-0.56	0.17003	N	0.083	0.06190	-0.9081	0.47085	T	0.001	0.00378	T	10	0.0042325854	0.00085	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.19776292023929762	0.19693	0.0854538752056	0.09655	0.25497430563	0.04310	T	.	.	.	-0.679157	0.00049	T	-0.7418	0.03815	T	0.00356876069672346	0.00038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11366	B	.;.	.;.	-0.305598	0.02594	0.320	0.79294907434106843	0.12677	0.00046	0.00367	N	AEFDBI	0.031240	0.03297	N	-1.35461808824982	0.03077	0.1369007	-1.47429991340762	0.02557	0.1178012	0.942790596828477	0.27538	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	1.41	-1.24	0.08948	-0.370000	0.07578	.	.	-1.707000	0.00749	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7752:0.0:0.2248:0.0	4.903	0.13140	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	3920.98	130	chr6	31411341	.	G	A	3920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.913;DP=1904;ExcessHet=0.0000;FS=0.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.42;ReadPosRankSum=-1.158e+00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,101:192:99:0|1:31411338_G_A:3935,0,3517:31411338	20	0	1	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:39,0,26:65:99:.:.:954,1072,2669,0,1597,1518	10	0	5	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,39,26,0:65:99:.:.:2721,1075,954,1602,0,1518,2702,1074,1601,2695	2	2	2	0
chr6	31505748	31505748	C	-	exonic	MICB	.	frameshift deletion	MICB:NM_001289160:exon2:c.106delC:p.Q37Rfs*21	.	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	.	0.0007	0.0001	0.0004	0	0	0.0008	0.0012	0.0012	0.0005045	78	154602	rs45459705	0.0005	0.0005	0.0004	0.0005	0.0026	0.0005	0.0005	0.0016	0.0013	5.974e-05	0.0008	0	0	0	0.0026	0.0005	0.0007	0.0010	0.0005	0.0006	0.0004	0.0007	0.0020	0.0004	0.0004	0.0015	0.0013	9.62e-05	0	0.0020	0	0	0	0.0034	0.0006	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2418.94	53	chr6	31505747	.	GC	G	2418.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.332;DP=1395;ExcessHet=0.0000;FS=7.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.450;SOR=1.192	GT:AD:DP:GQ:PL	0/1:90,86:176:99:2433,0,2490	20	0	1	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|1:108,15:123:3:0|1:31625601_T_C:3,0,3537:31625601	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|1:91,31,0:122:99:0|1:31625601_T_C:432,0,2104,694,2192,2887:31625601	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|1:91,31,0:122:99:0|1:31625601_T_C:432,0,2104,694,2192,2887:31625601	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	0/1:7,5:12:99:166,0,249	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	2/4:1,0,11,0,15:27:99:992,1004,1072,573,645,639,1004,1072,645,1072,393,437,0,437,388	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	2/4:1,0,11,0,15:27:99:992,1004,1072,573,645,639,1004,1072,645,1072,393,437,0,437,388	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	2/4:1,0,11,0,15:27:99:992,1004,1072,573,645,639,1004,1072,645,1072,393,437,0,437,388	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	0/1:87,70:157:99:1908,0,2089	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|1:0,19,0:19:57:1|1:32519647_C_A:836,57,0,836,57,836:32519647	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|1:0,16,0:16:48:1|1:32519647_C_A:720,48,0,720,48,720:32519647	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	0|2:13,0,60:73:99:0|1:32521957_G_A:2480,2519,3065,0,546,365:32521957	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	1/2:0,53,13,0,0:66:99:.:.:2771,546,386,2225,0,2186,2771,546,2225,2771,2771,546,2225,2771,2771	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	2/2:0,0,53:66:99:.:.:2385,2385,2385,160,160,0	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	0|1:17,51,0,0:68:99:0|1:32521957_G_A:2090,0,541,2141,695,2836,2141,695,2836,2836:32521957	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	0/2:118,1,13:132:99:.:.:188,501,5423,0,4832,4889	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	1/2:0,97,35,13,0:145:99:.:.:5543,1470,1178,4073,0,3968,4997,924,3527,4958,5543,1470,4073,4997,5543	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	0/1:119,13,13:145:0:.:.:188,0,4958,0,4451,4958	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	0/1:117,13,13:143:0:.:.:194,0,4874,0,4367,4874	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	0/2:63,0,34:97:99:.:.:1157,1347,3931,0,2585,2482	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|2:0,62,31,0:93:99:0|1:32530166_A_G:3865,1227,1034,2569,0,2470,3834,1226,2568,3824:32530166	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|3:0,0,28,60:88:99:0|1:32530166_A_G:3695,3695,3695,2519,2519,2435,1176,1176,0,995:32530166	0	1	0	0
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X,	.	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.838	N	1.000	A	.	.	.	.	.	.	.	.	.	2.918	15.72	0.396	0.242	-1.613	7.656	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	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	0.1905	29644.93	509	chr6	32581836	.	G	C,A	29644.93	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-1.041e+00;DP=8578;ExcessHet=0.5418;FS=1.262;InbreedingCoeff=0.0735;MLEAC=5,3;MLEAF=0.119,0.071;MQ=56.50;MQRankSum=-8.926e+00;QD=8.65;ReadPosRankSum=3.57;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:374,0,75:449:99:.:.:1968,3094,18793,0,15699,15474	14	1	3	0
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X,	.	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.019	N	1.000	A	.	.	.	.	.	.	.	.	.	2.920	15.73	-1.18	-0.021	0.300	8.251	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	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	0.1	9626.3	174	chr6	32584158	.	G	T,A	9626.3	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-6.130e-01;DP=3725;ExcessHet=0.6776;FS=3.568;InbreedingCoeff=-0.1200;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.07;MQRankSum=3.07;QD=9.89;ReadPosRankSum=-5.630e-01;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,58,0:266:99:0|1:32584158_G_T:1809,0,8559,2435,8734,11169:32584158	16	0	2	1
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	0/2:158,39,93,0:290:99:.:.:3429,2267,8784,0,4977,6330,3905,8893,6613,10527	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|2:185,43,69:297:99:0|1:32584161_G_A:2324,1137,9271,0,5970,7539:32584161	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	1/2:64,120,112:296:99:.:.:7389,2035,4341,2364,0,4654	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|2:153,54,120,0:327:99:0|1:32584184_G_GT:4572,2788,9313,0,4168,6040,5050,9346,6424,11584:32584184	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|2:153,54,120,0:327:99:0|1:32584184_G_GT:4572,2788,9313,0,4168,6040,5050,9346,6424,11584:32584184	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|2:153,54,120:327:99:0|1:32584184_G_GT:4562,2784,9393,0,4163,6043:32584184	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	0/1:317,34,0:373:99:.:.:473,0,13199,1431,13306,14756	12	0	7	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	1/1:0,246,0:246:99:.:.:11070,741,0,11070,741,11070	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	0/1:23,221,0,0:244:99:.:.:9211,0,301,9280,966,10246,9280,966,10246,10246	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	0/1:103,106,0:209:99:.:.:4141,0,3954,4451,4273,8724	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	1/2:0,99,93:192:99:.:.:8242,3917,3607,4169,0,3877	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	0/1:196,45:241:99:.:.:1300,0,8095	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|2:0,43,55:98:99:0|1:32641436_G_A:4115,2309,2180,1806,0,1640:32641436	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|2:0,56,43:99:99:0|1:32641436_G_A:4157,1806,1637,2351,0,2222:32641436	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|2:0,46,51:97:99:0|1:32641436_G_A:4073,2141,2003,1908,0,1749:32641436	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|2:0,46,51:97:99:0|1:32641436_G_A:4073,2141,2003,1908,0,1749:32641436	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	1/2:0,67,52,0:119:99:.:.:5134,1946,1647,2398,0,2130,4815,1914,2373,4678	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	2/3:0,0,79,49:128:99:.:.:5915,5686,5647,2061,2058,1778,3353,3353,0,3170	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	2/3:0,0,79,49:128:99:.:.:5915,5686,5647,2061,2058,1778,3353,3353,0,3170	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|1:0,222,0:222:99:1|1:32664910_A_G:9990,668,0,9990,668,9990:32664910	5	3	5	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	1/2:0,35,35:70:99:.:.:3120,1115,923,1059,0,856	1	1	0	0
chr6	33007507	33007507	G	T	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon3:c.C417A:p.F139L,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	0.000	D	0.999	D	3.515	H	3.96	T	-0.191	T	0.372	T	0.656	3.850	19.56	3.77	1.312	0.731	7.216	0.155	0.0609974231723	.	0.000399361	7.77e-05	0	0.0003	0	0	9.495e-05	0	0	8.41e-05	13	154602	rs531000118	5.751e-05	5.746e-05	6.131e-05	5.367e-05	0.0005	4.747e-05	4.37e-05	0.0001	0.0001	0	0.0002	0	0	0	0.0005	4.856e-05	0.0001	9.276e-05	6.564e-05	6.561e-05	0.0001	2.685e-05	0.0002	3.513e-05	2.614e-05	5.277e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	8.82e-05	0	0	0.003	0.68238	D	0.01	0.65728	D	0.969	0.56768	D	0.721	0.54900	P	0.000039	0.55875	D	0.126169	0.998763	0.45406	D	3.17	0.88688	M	3.96	0.03354	T	-3.73	0.70920	D	0.557	0.58202	-0.1906	0.77912	T	0.372	0.73129	T	10	0.40746152	0.55992	T	0.060997	0.68186	D	0.260	0.57221	0.728	0.86198	0.211220785272	0.20719	0.5410917202398925	0.54034	0.972564744094	0.73426	0.453698754311	0.32450	T	0.209443	0.56966	T	-0.208857	0.19540	T	-0.240225	0.50777	T	0.871135473251343	0.52103	D	.	.	.	0.35105264	0.57149	0.2190305	0.46627	0.35105264	0.57149	0.2190305	0.46626	-11.984	0.84773	D	.	.	0.965	0.88734	P	.	.	4.118411	0.61538	24.3	0.99843801070544047	0.92403	0.72581	0.35521	D	AEFDBHCI	0.262522	0.38025	N	0.350911173211481	0.58787	4.053266	0.297254650590521	0.55380	3.700984	0.903395419987923	0.26151	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.64	3.77	0.42499	0.807000	0.26800	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1954:0.0:0.8046:0.0	7.216	0.25135	895	0.25842	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	1978.98	79	chr6	33007507	.	G	T	1978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.141e+00;DP=1501;ExcessHet=0.0000;FS=5.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.638;SOR=1.072	GT:AD:DP:GQ:PL	0/1:89,85:174:99:1993,0,2176	20	0	1	0
chr6	33313730	33313730	G	A	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_003190:exon2:c.C172T:p.P58S	Bare lymphocyte syndrome, type I, Autosomal recessive	.	0	1512	9	1	0	11	0.00362438	.	.	1095016	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.989	D	0.002	N	1.000	N	2.24	M	1.24	T	-0.978	T	0.160	T	0.292	0.727	7.868	2.33	0.495	1.253	5.104	0.142	0.0217348737721	7.7e-05	0.000199681	0.0004	0	8.702e-05	0	0	0.0001	0	0.0025	0.0003363	52	154602	rs376978188	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	0	0	0	0.0014	6.205e-05	0.0004	0.0024	0.0001	0.0001	7.71e-05	0.0002	0.0027	8.662e-05	7.254e-05	0.0016	0.0013	2.407e-05	0	0	0	0	0	0	8.824e-05	0	0.0027	0.216	0.43708	T	0.0	0.92824	D	1.0	0.90584	D	0.946	0.68276	D	0.001661	0.38382	N	0.266915	0.999987	0.18198	N	.	.	.	1.24	0.54347	T	-2.96	0.61722	D	0.312	0.55019	-0.9778	0.35503	T	0.160	0.49480	T	10	0.009890825	0.00222	T	0.021735	0.44549	T	0.142	0.37995	.	.	0.526181570707	0.52266	0.39210095666550154	0.39125	0.86453056222	0.69148	0.517690479755	0.41301	T	0.026153	0.22470	T	-0.432807	0.01426	T	-0.400021	0.33382	T	0.118213823911091	0.14254	T	0.909009	0.67793	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.23952	B	.;.;.;.;.	.;.;.;.;.	2.085646	0.26530	17.15	0.91888408213274131	0.21207	0.19247	0.20586	N	ALL	0.098142	0.19781	N	-0.242944736435292	0.31385	1.759335	-0.366370932047661	0.26006	1.433794	0.999999999762155	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.15	2.33	0.27981	1.128000	0.30982	4.272000	0.42850	-0.860000	0.02636	0.965000	0.33920	1.000000	0.68203	0.034000	0.13613	0.1082:0.0:0.687:0.2048	5.104	0.14111	628	0.65206	.;.;.;.;.	.	.	.	.	.	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	1140.98	33	chr6	33313730	.	G	A	1140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=836;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-9.520e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1155,0,1380	20	0	1	0
chr6	36294172	36294172	C	A	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145716:exon4:c.C229A:p.L77I,	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.008	B	.	.	1.000	N	.	.	-0.21	T	-1.008	T	0.070	T	0.09	0.421	6.289	0.301	0.035	0.083	1.739	0.042	0.00977610383771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.0	0.92824	D	0.004	0.12183	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	.	.	.	-0.21	0.66294	T	-0.06	0.07882	N	0.237	0.26717	-1.0079	0.27572	T	0.070	0.28511	T	8	0.08185342	0.13445	T	0.009776	0.25518	T	0.042	0.11227	0.447	0.50629	0.601252736945	0.59807	.	.	.	.	.	.	.	.	.	.	-0.254628	0.13537	T	-0.603532	0.12516	T	0.0648468873096976	0.07908	T	0.19948	0.02241	T	.	.	.	.	.	.	.	.	-3.472	0.16042	T	.	.	0.139	0.30291	B	.	.	0.967461	0.13443	9.952	0.91898628833301199	0.21218	0.09038	0.14872	N	AEFDBI	0.075254	0.15106	N	-1.07322701849616	0.07140	0.3307882	-1.16407872686005	0.06519	0.3140291	0.0914554556735175	0.16135	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.23	0.301	0.15029	-0.637000	0.05556	0.216000	0.16018	-0.934000	0.02129	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2279:0.4551:0.1945:0.1224	1.739	0.02770	793	0.45818	.	.	.	.	.	.	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	313.98	38	chr6	36294172	.	C	A	313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.729e+00;DP=979;ExcessHet=0.0000;FS=71.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=1.55;SOR=6.661	GT:AD:DP:GQ:PL	0/1:117,35:152:99:328,0,4070	20	0	1	0
chr6	36375885	36375885	C	T	exonic	ETV7	.	nonsynonymous SNV	ETV7:NM_001207040:exon2:c.G50A:p.R17H	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	U	1.000	D	.	.	1.28	T	-0.722	T	0.168	T	0.662	4.620	25.3	3.38	1.449	7.032	14.355	0.398	0.0613428459412	.	0.000798722	0.0003	0.0003	8.646e-05	0.0002	0	0.0002	0	0.0014	0.0002846	44	154602	rs201419269	0.0002	0.0002	0.0001	0.0002	0.0011	0.0002	0.0001	0.0009	0.0009	0.0002	0.0001	0	0.0002	1.878e-05	0.0005	0.0001	0.0002	0.0011	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	9.624e-05	0	0.0001	0	0.0002	9.414e-05	0	0.0001	0.0005	0.0019	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.919436	0.81001	D	.	.	.	1.28	0.35960	T	-4.54	0.78472	D	0.686	0.70351	-0.7218	0.59374	T	0.168	0.50745	T	9	0.25999779	0.43444	T	0.061343	0.68300	D	0.398	0.71242	.	.	0.644655717422	0.64171	0.6083929965696628	0.60771	0.852508063545	0.68604	0.758094847202	0.75646	T	0.175382	0.52495	T	-0.230561	0.16574	T	-0.144495	0.59727	T	0.561565160751343	0.34914	D	0.980702	0.95998	D	0.7234441	0.79354	0.60448754	0.77011	0.7234441	0.79355	0.60448754	0.77012	-10.324	0.77425	D	.	.	0.633	0.78373	P	.;.;.;.	.;.;.;.	3.829218	0.55335	23.6	0.99921364161498571	0.98787	0.96112	0.67588	D	AEFDBCI	0.835357	0.75327	D	0.297097330973803	0.56003	3.764335	0.140529276096729	0.46643	2.906948	0.999999641536604	0.74766	0.653281	0.48532	0	0.659037	0.61890	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	3.38	3.38	0.37806	7.153000	0.77018	3.812000	0.39914	0.549000	0.26987	1.000000	0.71638	0.264000	0.24003	0.212000	0.22240	0.0:1.0:0.0:0.0	14.355	0.66291	588	0.69043	.;Pointed domain|Pointed domain|Pointed 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	1587.98	35	chr6	36375885	.	C	T	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=835;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-3.660e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1602,0,1447	20	0	1	0
chr6	41031715	41031715	T	C	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon6:c.A1085G:p.N362S,	.	.	399	1118	5	0	0	5	0.00223115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.001	B	0.003	N	0.559	D	0.695	N	2.54	T	-0.944	T	0.008	T	0.131	0.180	4.971	3.34	0.770	0.406	6.763	0.027	.	0.0015	0.00938498	0.0054	9.61e-05	0.0021	0.0009	0	0.0017	0.0099	0.0302	0.0049417	764	154602	rs145811250	0.0036	0.0036	0.0029	0.0044	0.0296	0.0035	0.0035	0.0286	0.0282	0.0006	0.0032	0.0011	0.0035	0.0002	0.0033	0.0019	0.0041	0.0296	0.0029	0.0029	0.0022	0.0037	0.0301	0.0027	0.0026	0.0261	0.0246	0.0006	0	0.0075	0.0014	0.0017	9.43e-05	0.0102	0.0019	0.0043	0.0301	0.629	0.05167	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.002565	0.36316	N	0.124350	0.558932	0.32196	D	1.95	0.52479	M	2.54	0.13916	T	-0.27	0.11366	N	0.364	0.40565	-0.9438	0.42009	T	0.008	0.02679	T	10	0.0041496456	0.00082	T	.	.	.	0.027	0.05988	.	.	0.263140351381	0.25927	0.3104686467559726	0.30959	0.0967241480194	0.10917	0.434845983982	0.29872	T	0.004928	0.04354	T	-0.658277	0.00064	T	-0.696033	0.06045	T	0.00391192859409354	0.00041	T	0.723028	0.33655	T	0.036393862	0.04468	0.040935535	0.04540	0.036393862	0.04468	0.040935535	0.04539	-2.123	0.03684	T	.	.	0.069	0.03128	B	.;.	.;.	1.951457	0.24787	16.53	0.82207439844384111	0.14073	0.55062	0.29770	D	AEFDBI	0.177899	0.30516	N	-0.46693635199684	0.23169	1.242357	-0.30524120073425	0.27929	1.553338	0.998329372283581	0.36758	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.52	3.34	0.37357	0.400000	0.20657	1.472000	0.26760	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1071:0.0:0.8929	6.763	0.22735	451	0.79296	.;.	.	.	.	.	.	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	0.07143	3065.66	84	chr6	41031715	.	T	C	3065.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.460e-01;DP=820;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=0.275;SOR=0.586	GT:AD:DP:GQ:PL	0/1:53,30:83:99:651,0,1446	19	1	1	0
chr6	41150262	41150262	A	G	exonic	TREML1	.	nonsynonymous SNV	TREML1:NM_001271808:exon4:c.T287C:p.M96T	.	.	431	1079	12	0	0	12	0.00552995	0.0008	0.104	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.003	B	0.001	B	0.564	N	1.000	N	0.255	N	0.93	T	-1.054	T	0.013	T	0.309	2.496	14.31	-8.03	-1.302	-1.523	4.361	0.052	.	0.0017	0.0167732	0.0102	0.0002	0.0024	0.0015	0	0.0017	0.0113	0.0646	0.0089261	1380	154602	rs35929443	0.0056	0.0056	0.0040	0.0073	0.0623	0.0055	0.0055	0.0609	0.0603	0.0007	0.0031	0.0011	0.0035	0.0002	0.0036	0.0019	0.0069	0.0623	0.0038	0.0038	0.0026	0.0051	0.0597	0.0036	0.0035	0.0540	0.0518	0.0007	0	0.0073	0.0014	0.0027	9.432e-05	0.0102	0.0019	0.0033	0.0597	0.296	0.14694	T	0.257	0.23433	T	0.002	0.11197	B	0.001	0.04355	B	0.563607	0.05438	N	1.213370	0.99974	0.48716	D	0.755	0.19153	N	1.83	0.44065	T	-2.63	0.56466	D	0.028	0.04790	-1.0540	0.13305	T	0.013	0.04938	T	10	0.0016866624	0.00021	T	.	.	.	0.052	0.14661	.	.	0.199424873507	0.19547	0.1706216434997013	0.16982	0.0668708633351	0.07459	0.316066741943	0.12826	T	0.046399	0.27413	T	-0.614411	0.00119	T	-0.608221	0.12129	T	0.0103992810647978	0.00143	T	0.50065	0.15660	T	0.060711063	0.12491	0.09030898	0.21169	0.060711063	0.12490	0.09030898	0.21168	-1.586	0.01949	T	.	.	0.1	0.33527	B	.;.	.;.	-0.522980	0.01794	0.139	0.71087936438850141	0.09511	0.00732	0.03068	N	AEFBI	0.058129	0.10882	N	-1.35796003634285	0.03043	0.1353332	-1.38206261642845	0.03443	0.1606118	0.99568561193967	0.34265	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	-8.03	0.00984	-1.517000	0.02351	-5.389000	0.01737	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2942:0.1241:0.4608:0.121	4.361	0.10638	638	0.64280	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4637.66	105	chr6	41150262	.	A	G	4637.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.630e-01;DP=895;ExcessHet=0.0000;FS=9.537;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.98;ReadPosRankSum=-7.500e-02;SOR=0.704	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1646,0,1208	19	1	1	0
chr6	41151372	41151374	TCT	-	exonic	TREML1	.	nonframeshift deletion	TREML1:NM_001271808:exon2:c.54_56del:p.E19del	.	.	417	1093	12	0	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0169728	0.0099	0.0002	0.0023	0.0014	0	0.0018	0.0110	0.0622	0.0009221	24	26028	rs139027309	0.0056	0.0056	0.0040	0.0072	0.0609	0.0055	0.0054	0.0596	0.0590	0.0007	0.0031	0.0011	0.0035	0.0002	0.0036	0.0019	0.0069	0.0609	0.0038	0.0038	0.0026	0.0052	0.0596	0.0036	0.0035	0.0540	0.0518	0.0007	0	0.0073	0.0014	0.0029	9.422e-05	0.0102	0.0018	0.0033	0.0596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4625.62	67	chr6	41151371	.	CTCT	C	4625.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.605;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=31.25;ReadPosRankSum=-6.530e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1682,0,1464	19	1	1	0
chr6	42142395	42142395	T	C	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon1:c.A50G:p.K17R,	.	.	391	1081	48	2	0	52	0.0234869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.025	N	0.993	N	0.695	N	0.38	T	-1.060	T	0.066	T	0.129	3.414	17.53	3.28	0.437	2.036	7.218	0.052	.	0.0061	0.00898562	0.0146	0.0009	0.0099	0.0016	0.0433	0.0091	0.0260	0.0245	0.0035511	549	154602	rs138013556	0.0092	0.0089	0.0088	0.0097	0.0242	0.0091	0.0091	0.0233	0.0230	0.0010	0.0038	0.0034	5.597e-05	0.0180	0.0136	0.0087	0.0080	0.0242	0.0081	0.0081	0.0078	0.0084	0.0238	0.0077	0.0076	0.0203	0.0190	0.0012	0	0.0033	0.0032	0	0.0181	0.0068	0.0118	0.0038	0.0238	0.033	0.44358	D	0.046	0.49120	D	.	.	.	.	.	.	0.025124	0.26142	N	0.263134	0.992795	0.23824	N	1.43	0.35840	L	0.08	0.61559	T	-1.83	0.55821	N	0.094	0.07398	-1.0601	0.11731	T	0.066	0.27087	T	8	0.0038990676	0.00074	T	.	.	.	0.052	0.14661	.	.	.	.	0.1582670425571511	0.15747	.	.	.	.	.	0.026122	0.19398	T	-0.490269	0.00647	T	-0.458761	0.26736	T	0.0113426682460786	0.00168	T	0.630137	0.26349	T	0.08512834	0.19732	0.17037952	0.39143	0.08512834	0.19732	0.17037952	0.39142	-7.258	0.55896	T	.	.	0.112	0.21803	B	.;.	.;.	2.579607	0.33447	19.34	0.99408907045625905	0.63169	0.74913	0.36659	D	AEFDBCI	0.280787	0.39452	N	0.0307429045213938	0.43257	2.622233	0.103904128617391	0.44748	2.750582	0.999999972454606	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	5.66	3.28	0.36691	2.066000	0.41078	2.670000	0.33941	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.1742:0.0:0.8258	7.218	0.25145	797	0.45241	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2840.11	33	chr6	42142395	.	T	C	2840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.270e-01;DP=875;ExcessHet=0.1072;FS=1.726;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=1.91;SOR=0.778	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1165,0,771	19	0	2	0
chr6	43614449	43614451	TCA	-	exonic	POLH	.	nonframeshift deletion	POLH:NM_001291969:exon9:c.1662_1664del:p.H555del	Xeroderma pigmentosum, variant type, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	rs868200662	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0001	6.4e-07	4.3e-07	3.982e-05	2.373e-05	0.0001	0	0	0	0	0	0	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1506.94	36	chr6	43614448	.	CTCA	C	1506.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.92;ReadPosRankSum=0.366;SOR=0.785	GT:AD:DP:GQ:PL	0/1:25,38:63:99:1521,0,935	20	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.956	P	0.785	P	0.000	D	0.992	D	0.93	L	-0.64	T	-0.812	T	0.190	T	0.424	2.585	14.60	4.45	1.216	0.876	8.891	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3889	1304.96	82	chr6	44229406	.	C	T	1304.96	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.959e+00;DP=2294;ExcessHet=14.4320;FS=177.510;InbreedingCoeff=-0.6006;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.16;SOR=12.393	GT:AD:DP:GQ:PL	0/1:65,30:95:77:77,0,1018	4	0	14	3
chr6	45422775	45422783	GCGGCGGCT	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.199_207del:p.A73_A75del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253741091	0	6.848e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13028.27	37	chr6	45422774	.	GGCGGCGGCT	AGCGGCGGCT,G	13028.27	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.600e-02;DP=1348;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=17.82;ReadPosRankSum=2.23;SOR=0.665	GT:AD:DP:GQ:PL	0/1:66,69,0:135:99:1728,0,1341,1906,1547,3453	16	1	3	0
chr6	52050268	52050268	C	A	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon22:c.G2168T:p.R723L	Polycystic kidney and hepatic disease, Autosomal recessive	YES	0	1504	18	0	0	18	0.00594845	.	.	489852	Polycystic_kidney_disease_4|not_provided|Autosomal_recessive_polycystic_kidney_disease|not_specified	MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.166	B	0.066	B	0.018	N	1.000	N	1.905	M	-2.23	D	-0.651	T	0.380	T	0.269	2.808	15.35	3.76	1.393	0.746	7.709	0.675	.	0.0002	0.00259585	0.0017	0	0.0003	0.0001	0	0.0004	0.0011	0.0109	0.0015136	234	154602	rs150597050	0.0009	0.0009	0.0006	0.0012	0.0095	0.0009	0.0008	0.0090	0.0088	0.0002	0.0005	0.0004	2.52e-05	0	0.0050	0.0003	0.0012	0.0095	0.0007	0.0007	0.0004	0.0009	0.0118	0.0006	0.0005	0.0094	0.0085	4.812e-05	0	0.0009	0.0009	0.0002	0	0.0034	0.0003	0	0.0118	0.146	0.27310	T	0.098	0.39040	T	0.166	0.28547	B	0.03	0.27432	B	0.017707	0.27656	N	0.350509	0.999973	0.18612	N	2.47	0.71715	M	-2.23	0.88689	D	-2.97	0.61865	D	0.385	0.43803	-0.6509	0.62675	T	0.380	0.73706	T	10	0.009211212	0.00208	T	.	.	.	0.675	0.88013	.	.	0.939329616413	0.93869	0.5591541257757603	0.55842	0.207378967458	0.23197	0.33388876915	0.15520	T	0.596522	0.87006	D	-0.345135	0.05041	T	-0.260577	0.48768	T	0.0422822293805266	0.04106	T	0.813119	0.46553	T	0.10096875	0.23847	0.12958515	0.31155	0.14519054	0.33293	0.119494885	0.28840	-2.226	0.04168	T	0.4385702297441543	0.52448	0.198	0.42097	B	.;.	.;.	2.233190	0.28512	17.82	0.99639591157535723	0.76571	0.20341	0.21005	N	AEFBCI	0.185016	0.31234	N	-0.20796241389764	0.32808	1.854306	-0.109429959064427	0.35008	2.020373	0.96279671775821	0.28647	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.64	3.76	0.42368	0.782000	0.26449	0.553000	0.19438	0.599000	0.40250	0.514000	0.27064	0.095000	0.22593	0.959000	0.51448	0.1341:0.7203:0.0:0.1456	7.709	0.27830	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2016.98	39	chr6	52050268	.	C	A	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=925;ExcessHet=0.0000;FS=2.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=1.00;SOR=0.509	GT:AD:DP:GQ:PL	0/1:60,84:144:99:2031,0,1245	20	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	B	0.041	B	0.000	D	1.000	D	0.24	N	1.69	T	-1.025	T	0.018	T	0.207	-0.511	1.662	5.64	2.147	2.830	15.038	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	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	0.1923	851.03	179	chr6	52403967	.	A	G	851.03	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.856e+00;DP=2907;ExcessHet=1.1607;FS=121.785;InbreedingCoeff=-0.2622;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.19;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,20:182:1:0|1:52403967_A_G:1,0,6149:52403967	8	0	5	8
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	2	1475	43	2	0	47	0.0156823	.	.	308408	Inborn_genetic_diseases|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|DST-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.79	T	0.172	B	0.075	B	0.074	N	0.957	N	0.69	N	1.06	T	-1.056	T	0.133	T	0.136	0.616	7.316	1.56	0.046	0.428	7.512	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.07143	6500.68	36	chr6	56640283	.	G	C	6500.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.020e+00;DP=1137;ExcessHet=0.3300;FS=3.219;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.525;SOR=0.914	GT:AD:DP:GQ:PL	0/1:76,85:161:99:2231,0,2049	18	0	3	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	0/1:35,7,5:47:28:28,0,783,71,671,868	6	0	12	1
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:22,0,23:45:99:.:.:678,744,1616,0,872,806	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:22,4,16,0:42:99:.:.:622,183,1035,0,808,807,521,1073,874,1367	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:22,4,16,0:42:99:.:.:622,183,1035,0,808,807,521,1073,874,1367	8	0	5	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	0/1:22,16,0:42:99:.:.:622,0,807,521,874,1367	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	0/1:22,16,0:42:99:.:.:622,0,807,521,874,1367	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	0/1:22,16,0,0:42:99:.:.:622,0,807,521,874,1367,521,874,1367,1367	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	0/1:22,16,0,0:42:99:.:.:622,0,807,521,874,1367,521,874,1367,1367	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	0/1:22,16,0,0:42:99:.:.:622,0,807,521,874,1367,521,874,1367,1367	1	0	7	8
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,16,4:41:99:.:.:551,0,796,183,797,1024	4	0	4	10
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,16,4:41:99:.:.:551,0,796,183,797,1024	4	0	4	10
chr6	83228915	83228915	G	A	exonic	ME1	.	nonsynonymous SNV	ME1:NM_002395:exon10:c.C1043T:p.T348I,	.	.	.	.	.	.	.	.	.	.	.	3285281	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.958	D	0.747	P	0.000	D	1.000	D	3.32	M	0.9	T	-0.656	T	0.215	T	0.432	3.300	17.09	5.86	2.937	3.721	15.300	0.283	0.0129683978366	.	.	9.891e-05	0	0.0002	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs745631458	8.842e-05	8.961e-05	8.593e-05	9.093e-05	0.0005	7.57e-05	7.115e-05	0.0001	7.573e-05	0	6.794e-05	0	2.522e-05	0	0.0005	9.54e-05	0.0002	7.024e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.582e-05	6.286e-05	0.0001	0.0001	0	0	0.0001	0	0	0	0	0.0002	0	0	0.134	0.26300	T	0.159	0.31527	T	0.958	0.54977	D	0.747	0.55931	P	0.000000	0.84330	D	0.043732	0.99999	0.58761	D	2.965	0.85198	M	0.9	0.45248	T	-4.23	0.75935	D	0.592	0.61172	-0.6565	0.62430	T	0.215	0.57666	T	10	0.6976149	0.72243	D	0.012968	0.31999	T	0.283	0.60100	.	.	0.713146634696	0.71063	0.7165140702928132	0.71594	0.184859091672	0.20781	0.559781074524	0.47237	T	0.37301	0.73709	T	-0.242964	0.14973	T	-0.338468	0.40519	T	0.824118375778198	0.48080	D	0.844516	0.52185	T	0.7495402	0.80842	0.5546973	0.74245	0.7495402	0.80843	0.5546973	0.74246	-8.191	0.62365	D	.	.	0.338	0.55754	B	.	.	4.471845	0.69692	25.4	0.99741635533990725	0.83555	0.93495	0.58373	D	AEFBI	0.493906	0.52993	N	0.728813122416548	0.81521	7.541843	0.687625142498544	0.81438	7.526806	0.904438429987554	0.26178	0.706298	0.61202	0	0.633656	0.55848	0	0.566861	0.19136	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	3.998000	0.56736	11.791000	0.96374	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.8601:0.1399	15.300	0.73648	740	0.53092	Malic enzyme, NAD-binding|Malic enzyme, NAD-binding	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	938.98	34	chr6	83228915	.	G	A	938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.290e-01;DP=813;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.693;SOR=0.919	GT:AD:DP:GQ:PL	0/1:41,39:80:99:953,0,1061	20	0	1	0
chr6	83857327	83857327	A	G	exonic	RIPPLY2	.	nonsynonymous SNV	RIPPLY2:NM_001009994:exon4:c.A325G:p.I109V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.919	D	0.000	D	1.000	D	2.54	M	.	.	-0.260	T	0.346	T	0.543	3.777	19.18	5.64	2.367	6.331	12.536	0.257	0.00790860224697	.	.	1.656e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs541361470	1.117e-05	1.3e-05	6.946e-06	1.545e-05	2.669e-05	6.62e-06	5.35e-06	8.17e-06	6.48e-06	0	2.669e-05	0	0	0	0	1.361e-05	0	0	6.576e-06	6.567e-06	0	1.346e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.006	0.61437	D	0.016	0.63918	D	0.988	0.62325	D	0.919	0.65474	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	2.94	0.84723	M	.	.	.	-1.0	0.26422	N	0.742	0.74189	-0.2600	0.76088	T	0.346	0.71131	T	9	0.68849975	0.71709	D	0.007909	0.20981	T	0.257	0.56827	0.612	0.74535	0.8105381289	0.80876	0.242721009886143	0.24186	0.429143306096	0.43209	0.496223032475	0.38302	T	0.442808	0.78683	T	-0.00732948	0.50639	T	-0.135814	0.60480	T	0.810879528522491	0.47110	D	0.872413	0.74555	D	0.7209831	0.79216	0.7115016	0.82980	0.7209831	0.79217	0.7115016	0.82981	-7.719	0.59140	D	.	.	0.475	0.63414	A	.;.	.;.	4.339354	0.66557	25.0	0.99902928659249812	0.97426	0.99354	0.94924	D	AEFBI	0.794533	0.72221	D	0.792166294230004	0.85613	8.628618	0.769441629501669	0.87601	9.278784	0.999999224634786	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.64	5.64	0.86480	6.345000	0.72945	10.885000	0.84068	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8613:0.1387:0.0:0.0	12.536	0.55491	168	0.93464	.;.	.	.	.	.	.	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	728.98	35	chr6	83857327	.	A	G	728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.740e-01;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=2.77;SOR=0.696	GT:AD:DP:GQ:PL	0/1:35,37:72:99:743,0,746	20	0	1	0
chr6	87258148	87258148	G	A	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.G4519A:p.E1507K	.	.	434	1080	8	0	0	8	0.00369004	.	.	2840590	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.256	B	0.035	B	0.033	N	1.000	D	0.695	N	3.17	T	-0.910	T	0.010	T	0.572	1.207	9.901	5.87	2.779	3.124	18.384	0.157	0.00813865308642	.	.	9.811e-05	0	0	0.0001	0.0003	4.802e-05	0	0.0003	7.76e-05	12	154602	rs750773292	3.837e-05	3.967e-05	3.135e-05	4.547e-05	0.0003	3.03e-05	2.723e-05	0.0002	0.0002	2.99e-05	0	0	2.522e-05	3.76e-05	0.0003	1.8e-05	9.951e-05	0.0003	3.944e-05	3.94e-05	2.57e-05	5.384e-05	0.0002	1.716e-05	1.13e-05	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	9.434e-05	0	2.941e-05	0.0005	0.0002	0.008	0.58626	D	0.163	0.31629	T	0.256	0.31372	B	0.035	0.22741	B	0.033222	0.24925	N	0.420327	0.99621	0.43079	D	1.555	0.39373	L	3.16	0.07711	T	-0.75	0.21003	N	0.304	0.56058	-0.9102	0.46830	T	0.010	0.03492	T	10	0.11816445	0.22334	T	0.008139	0.21572	T	0.157	0.40909	0.322	0.30226	0.225033846419	0.22103	0.5235445028743316	0.52278	.	.	0.565315485001	0.48017	T	0.048916	0.28156	T	-0.313934	0.07406	T	-0.392529	0.34256	T	0.0709588371123201	0.08785	T	0.847215	0.52823	T	0.19881433	0.41797	0.11974239	0.28901	0.19881433	0.41797	0.11974239	0.28901	-3.357	0.14484	T	0.2086003190621847	0.27906	0.125	0.26419	B	.;.	.;.	3.119102	0.42106	21.5	0.99085217216601751	0.52075	0.90465	0.51663	D	AEFGBHCI	0.265740	0.38280	N	-0.104492555548378	0.37196	2.160639	0.0420180583032019	0.41687	2.508734	0.999999980231481	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	3.205000	0.50792	11.920000	0.99804	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.452000	0.27939	0.0:0.0:1.0:0.0	18.384	0.90403	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	1	0	0	0	0	0	0	0.02381	3046.98	34	chr6	87258148	.	G	A	3046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=1933;ExcessHet=0.0000;FS=1.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=0.699;SOR=0.866	GT:AD:DP:GQ:PL	0/1:86,110:196:99:3061,0,1961	20	0	1	0
chr6	89672229	89672229	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon82:c.G13765A:p.G4589S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.224	B	0.022	B	0.000	N	0.941	N	0.93	L	1.65	T	-0.984	T	0.016	T	0.312	1.071	9.373	4.07	0.716	1.808	11.714	0.044	0.0143990733076	.	.	2.488e-05	0	0	0.0002	0	0	0	6.252e-05	1.94e-05	3	154602	rs766400009	2.764e-05	2.736e-05	2.475e-05	3.057e-05	7.587e-05	2.084e-05	1.834e-05	2.012e-05	1.746e-05	6.186e-05	0	0	7.587e-05	0	0	2.797e-05	3.345e-05	2.406e-05	6.573e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.46	0.08736	T	.	.	.	0.224	0.30397	B	0.022	0.19653	B	0.000078	0.52346	N	0.138156	0.940796	0.26798	N	1.355	0.33814	L	1.65	0.27650	T	-1.52	0.36980	N	0.237	0.26717	-0.9841	0.34045	T	0.016	0.06377	T	10	0.036904722	0.02014	T	0.014399	0.34491	T	0.044	0.11924	0.275	0.22687	0.382607109125	0.37878	0.10060243318204566	0.09991	0.15514441455	0.17517	0.292324781418	0.09261	T	0.009347	0.08516	T	-0.378351	0.03191	T	-0.511951	0.21114	T	0.0386644415729103	0.03450	T	0.754025	0.37642	T	0.02740232	0.01928	0.041761	0.04819	0.02740232	0.01928	0.041761	0.04819	-2.381	0.05018	T	.	.	0.089	0.11941	B	.;.	.;.	1.591636	0.20356	14.71	0.7799929726378857	0.12112	0.23078	0.21958	N	AEFBI	0.043240	0.06810	N	-0.713137339269737	0.15652	0.7906704	-0.653497480175674	0.18128	0.9670633	0.0225999224458881	0.13443	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	4.07	0.46726	1.849000	0.38958	1.757000	0.28522	0.599000	0.40250	0.204000	0.24355	0.007000	0.19602	0.041000	0.14368	0.0:0.8219:0.0:0.1781	11.714	0.50909	798	0.45050	.;.	.	.	.	.	.	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	644.98	34	chr6	89672229	.	C	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.205;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-2.290e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:46,28:74:99:659,0,1255	20	0	1	0
chr6	106088228	106088228	G	T	exonic	PRDM1	.	nonsynonymous SNV	PRDM1:NM_001198:exon2:c.G70T:p.V24L,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.278	B	0.112	B	.	.	1.000	D	1.79	L	3.19	T	-1.026	T	0.015	T	0.582	2.586	14.61	5.93	2.826	3.055	15.111	0.106	0.00563889534336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.249	0.23776	T	0.278	0.32022	B	0.112	0.31615	B	.	.	.	.	0.531622	0.81001	D	2.215	0.62545	M	3.19	0.07353	T	-0.15	0.09297	N	0.306	0.34552	-1.0255	0.21919	T	0.015	0.05897	T	9	0.17728627	0.32755	T	0.005639	0.14591	T	0.106	0.30130	0.202	0.11659	0.798828834975	0.79695	0.23543929999297952	0.23458	0.403895571161	0.41309	0.481083214283	0.36206	T	0.192053	0.54709	T	-0.124137	0.32447	T	-0.416091	0.31524	T	0.494016289710999	0.32411	T	0.763624	0.39028	T	0.09877248	0.23301	0.13141756	0.31556	0.09877248	0.23300	0.13141756	0.31555	-2.91	0.09243	T	.	.	0.307	0.55562	B	.;.	.;.	2.763392	0.36256	20.2	0.99606259711812573	0.74516	0.69130	0.34067	D	ALL	0.332485	0.43188	N	0.13220278443781	0.47970	3.015405	0.267706033950582	0.53664	3.534198	0.999999999907789	0.74766	0.495158	0.18159	0	0.516746	0.08562	0	0.535252	0.11790	0	0.618803	0.45993	0	.	.	5.93	5.93	0.95888	2.968000	0.48916	7.625000	0.62478	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.523000	0.29544	0.0:0.0:0.8586:0.1414	15.111	0.72029	896	0.25515	.;.	.	.	.	.	.	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	1433.98	34	chr6	106088228	.	G	T	1433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.451e+00;DP=782;ExcessHet=0.0000;FS=4.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.87;ReadPosRankSum=-2.680e-01;SOR=0.357	GT:AD:DP:GQ:PL	0/1:35,50:85:99:1448,0,962	20	0	1	0
chr6	108074290	108074290	T	A	exonic	OSTM1	.	nonsynonymous SNV	OSTM1:NM_014028:exon1:c.A362T:p.Q121L,	Osteopetrosis, autosomal recessive 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.553	P	0.146	B	0.014	N	0.947	D	1.78	L	0.76	T	-1.073	T	0.054	T	0.368	3.128	16.46	4.13	0.854	0.304	5.827	0.102	0.0202927546571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.191	0.28391	T	0.553	0.38185	P	0.146	0.33945	B	0.014163	0.28613	N	0.398783	0.946948	0.37548	D	1.845	0.48678	L	0.76	0.49919	T	-2.97	0.61865	D	0.203	0.22486	-1.0731	0.08745	T	0.054	0.23034	T	10	0.24155071	0.41335	T	0.020293	0.42854	T	0.102	0.29158	0.405	0.43738	0.579527763308	0.57622	0.5315954902946844	0.53084	0.421405394544	0.42649	0.559610366821	0.47213	T	0.55944	0.85226	D	-0.109243	0.34894	T	-0.394697	0.34001	T	0.79934549331665	0.46308	D	0.454355	0.12956	T	0.20721936	0.42921	0.11383692	0.27476	0.20721936	0.42921	0.11383692	0.27475	-6.576	0.50869	T	0.18667174935884265	0.24307	0.123	0.25753	B	.	.	3.095513	0.41698	21.4	0.98563991476121182	0.43012	0.46737	0.27826	N	ALL	0.186450	0.31376	N	-0.229266177730586	0.31938	1.795942	-0.165849038951032	0.32802	1.869875	0.999999975772474	0.74766	0.72623	0.87236	0	0.218748	0.04544	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	5.3	4.13	0.47661	0.316000	0.19217	3.357000	0.37830	-0.111000	0.15049	0.349000	0.25751	1.000000	0.68203	0.931000	0.46843	0.1492:0.0807:0.0:0.7701	5.827	0.17816	854	0.34840	.	.	.	.	.	.	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	1596.98	36	chr6	108074290	.	T	A	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.570e-01;DP=828;ExcessHet=0.0000;FS=3.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.840e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1611,0,1411	20	0	1	0
chr6	127446642	127446642	A	C	exonic	KIAA0408	.	nonsynonymous SNV	KIAA0408:NM_014702:exon5:c.T1677G:p.N559K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	U	1.000	D	2.005	M	0.27	T	-0.664	T	0.222	T	0.255	3.753	19.06	0.131	0.034	2.312	9.063	0.247	0.0997182501646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001123	0.40136	U	0.092489	0.994236	0.81001	D	2.685	0.78553	M	0.27	0.59176	T	-3.43	0.67359	D	0.792	0.78832	-0.6641	0.62095	T	0.222	0.58550	T	10	0.80159354	0.79553	D	0.099718	0.77154	D	0.247	0.55478	0.368	0.37687	0.803518760456	0.80168	0.4603785717966515	0.45955	0.373575902153	0.38826	0.724665105343	0.70727	T	0.413146	0.76710	T	-0.0433913	0.45444	T	-0.300105	0.44714	T	0.985144138336182	0.76226	D	0.756224	0.37950	T	0.44484502	0.63713	0.4005754	0.64590	0.44484502	0.63714	0.4005754	0.64590	-2.247	0.04275	T	.	.	0.962	0.88310	P	.	.	3.263189	0.44636	22.0	0.99661425961500238	0.77947	0.86659	0.45986	D	AEDBIJ	0.614028	0.60149	D	0.172526577128297	0.49883	3.183867	0.0874788172686515	0.43917	2.683668	0.994990000440113	0.33894	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.23	0.131	0.14055	2.357000	0.43779	1.937000	0.29806	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.3161:0.0:0.6839:0.0	9.063	0.35608	621	0.65931	.	.	.	.	.	.	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	2755.98	42	chr6	127446642	.	A	C	2755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.920e-01;DP=895;ExcessHet=0.0000;FS=4.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=0.216;SOR=0.544	GT:AD:DP:GQ:PL	0/1:94,105:199:99:2770,0,2464	20	0	1	0
chr6	145950379	145950379	C	G	exonic	SHPRH	.	nonsynonymous SNV	SHPRH:NM_001042683:exon4:c.G867C:p.Q289H	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.028	B	0.009	B	0.949	N	1.000	N	0.695	N	-3.21	D	-0.724	T	0.349	T	0.078	1.533	11.08	-1.55	-0.673	-0.866	2.198	0.104	0.0250291142081	.	.	0.0001	0	0.0003	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs768323052	7.118e-05	7.114e-05	6.537e-05	7.704e-05	0.0026	5.983e-05	5.591e-05	0.0016	0.0013	0.0001	0.0003	0	0	0	0.0026	4.858e-05	0.0001	8.116e-05	6.572e-05	6.562e-05	7.715e-05	5.376e-05	8.828e-05	3.517e-05	2.616e-05	3.765e-05	2.577e-05	2.407e-05	0	6.546e-05	0	0	0	0.0034	8.828e-05	0.0005	0	0.116	0.30943	T	0.064	0.52060	T	0.001	0.09854	B	0.002	0.10090	B	0.948574	0.07640	N	1.026850	1	0.08975	N	1.4	0.35362	L	-3.21	0.93291	D	-1.3	0.32590	N	0.09	0.06854	-0.7237	0.59279	T	0.349	0.71336	T	10	0.06693706	0.09255	T	0.025029	0.48012	D	0.104	0.29647	0.376	0.38994	0.731822560003	0.72943	0.2940241312040266	0.29315	0.0695362135788	0.07782	0.233742743731	0.02256	T	0.020106	0.15893	T	-0.310218	0.07729	T	-0.385824	0.35040	T	0.00551985851360363	0.00060	T	0.189081	0.02920	T	0.034217298	0.03798	0.036504783	0.03110	0.034217298	0.03797	0.036504783	0.03110	-5.761	0.44233	T	.	.	0.079	0.17488	B	.;.;.;.;.	.;.;.;.;.	-0.025682	0.04108	0.970	0.94649273209458251	0.25254	0.13170	0.17703	N	AEFBI	0.091098	0.18455	N	-1.0893758192432	0.06837	0.3159262	-1.0725168016569	0.08245	0.4045159	9.57119982021247E-5	0.04910	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.95	-1.55	0.08105	-0.828000	0.04526	-0.443000	0.09147	-0.871000	0.02547	0.000000	0.06391	0.000000	0.08366	0.133000	0.19684	0.1012:0.2888:0.2974:0.3126	2.198	0.03677	356	0.85138	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.98	33	chr6	145950379	.	C	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=782;ExcessHet=0.0000;FS=0.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=-2.000e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:56,34:90:99:811,0,1369	20	0	1	0
chr6	152353329	152353329	C	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon69:c.G11142T:p.K3714N	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	195539	Arthrogryposis_multiplex_congenita_3,_myogenic_type|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided|SYNE1-related_disorder	MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.03	B	0.011	B	0.000	D	1.000	D	1.43	L	1.35	T	-1.076	T	0.049	T	0.055	1.431	10.72	3.05	0.801	0.359	4.006	0.043	0.0120286709403	0.0055	0.00139776	0.0044	0.0021	0.0016	0	0.0020	0.0067	0.0033	0.0018	0.0045342	701	154602	rs143070183	0.0077	0.0077	0.0079	0.0076	0.0095	0.0076	0.0076	0.0093	0.0093	0.0014	0.0020	0.0007	0	0.0018	0.0049	0.0095	0.0053	0.0017	0.0040	0.0040	0.0043	0.0038	0.0070	0.0038	0.0037	0.0065	0.0063	0.0018	0	0.0015	0.0006	0	0.0020	0.0068	0.0070	0.0019	0.0021	0.096	0.31088	T	0.242	0.24264	T	0.03	0.20002	B	0.007	0.12992	B	0.000324	0.45700	D	0.094194	0.980023	0.25141	N	1.385	0.34509	L	0.59	0.53943	T	-1.08	0.28084	N	0.329	0.36989	-1.0760	0.08144	T	0.049	0.20908	T	10	0.006750375	0.00153	T	0.012029	0.30231	T	0.043	0.11576	0.37	0.38013	0.393316636838	0.38940	0.09361250396709075	0.09293	0.315816098079	0.33860	0.464687168598	0.33952	T	0.15102	0.49077	T	-0.593327	0.00160	T	-0.615655	0.11530	T	0.0145913294034008	0.00300	T	0.774523	0.40643	T	0.08735227	0.20336	0.059891142	0.11315	0.06452599	0.13699	0.07164862	0.15365	-4.704	0.33453	T	.	.	0.292	0.52376	B	.;.;.	.;.;.	2.343113	0.30033	18.31	0.9441838105251773	0.24822	0.81010	0.40507	D	AEFBI	0.176546	0.30376	N	-0.436807943488156	0.24189	1.304381	-0.276927026790411	0.28861	1.612405	2.68049198754006E-4	0.06244	0.651	0.46895	0	0.573888	0.26702	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.75	3.05	0.34272	0.377000	0.20282	1.413000	0.26297	-0.176000	0.10722	0.995000	0.38783	1.000000	0.68203	0.979000	0.57723	0.0:0.4532:0.1678:0.379	4.006	0.09089	859	0.33891	.;.;.	.	.	.	.	.	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	0.04762	4340.08	34	chr6	152353329	.	C	A	4340.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.56;SOR=0.842	GT:AD:DP:GQ:PL	1/1:0,142:142:99:4368,425,0	20	1	0	0
chr6	152458782	152458782	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon22:c.G2564C:p.S855T	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1450490	not_provided|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:C3661900|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.012	B	0.015	B	0.001	D	1.000	D	-0.255	N	1.4	T	-1.081	T	0.030	T	0.18	1.527	11.06	4.41	2.643	2.792	12.773	0.029	0.00370288297514	.	.	6.596e-05	0	8.675e-05	0	0	7.499e-05	0.0011	6.058e-05	5.17e-05	8	154602	rs770713708	2.873e-05	2.873e-05	2.042e-05	3.713e-05	0.0003	2.152e-05	1.908e-05	6.246e-05	4.757e-05	0	6.709e-05	0	0	0	0.0003	2.158e-05	4.968e-05	0.0001	5.255e-05	5.25e-05	6.424e-05	4.032e-05	0.0002	2.556e-05	1.829e-05	2.847e-05	1.858e-05	0	0	6.542e-05	0	0	0	0	7.351e-05	0.0005	0.0002	0.957	0.06049	T	0.953	0.05109	T	0.001	0.16265	B	0.001	0.17295	B	0.000736	0.42129	D	0.103648	0.997547	0.23892	N	0.845	0.21182	L	1.4	0.33630	T	-0.59	0.25551	N	0.196	0.36779	-1.0811	0.07137	T	0.030	0.13023	T	10	0.07813132	0.12416	T	0.003703	0.08558	T	0.029	0.06676	0.315	0.29096	0.405560941015	0.40167	0.05255457784577119	0.05197	0.12150308672	0.13691	0.467789173126	0.34377	T	0.099946	0.40525	T	-0.362878	0.03970	T	-0.556372	0.16720	T	0.038688737899065	0.03455	T	0.734827	0.36463	T	0.11044201	0.26106	0.09662227	0.22964	0.11044201	0.26106	0.09662227	0.22964	-3.614	0.19097	T	.	.	0.071	0.08512	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.905373	0.38521	20.8	0.86813218670706338	0.16790	0.11487	0.16666	N	AEFDBHCIJ	0.198494	0.32535	N	-0.278909471554535	0.29963	1.666416	-0.0455687438407069	0.37682	2.209696	0.99999999999116	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.600164	0.37192	1	.	.	5.34	4.41	0.52588	2.506000	0.45093	6.206000	0.54953	0.599000	0.40250	0.528000	0.27173	1.000000	0.68203	0.980000	0.58198	0.0:0.6081:0.3919:0.0	12.773	0.56812	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	0.04762	2369.08	44	chr6	152458782	.	C	G	2369.08	.	AC=2;AF=0.048;AN=42;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.61;SOR=1.165	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2397,240,0	20	1	0	0
chr6	156778847	156778847	-	GGC	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1167_1168insGGC:p.G402_S403insG	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207352	not_provided|not_specified|Inborn_genetic_diseases|Coffin-Siris_syndrome_1	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0189	0	0	.	0.0014	0	0.0016	0.0001746	27	154602	rs1296517130	0.0016	0.0016	0.0016	0.0016	0.0243	0.0016	0.0015	0.0227	0.0221	0.0243	0.0039	0.0014	0.0020	0.0008	0.0032	0.0010	0.0033	0.0018	0.0067	0.0072	0.0067	0.0067	0.0200	0.0064	0.0062	0.0189	0.0184	0.0200	0	0.0033	0.0029	0.0021	0.0007	0.0036	0.0012	0.0058	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	790.94	36	chr6	156778847	.	G	GGGC	790.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=849;ExcessHet=0.0000;FS=2.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-7.880e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/1:35,22:57:99:805,0,1400	20	0	1	0
chr6	158589648	158589648	G	A	exonic	TMEM181	.	nonsynonymous SNV	TMEM181:NM_001376817:exon6:c.G505A:p.A169T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.00219649	0.0006	0.0068	9.225e-05	0	0	0	0	0	0.0005175	80	154602	rs114540380	0.0002	0.0002	0.0002	0.0002	0.0061	0.0001	0.0001	0.0054	0.0051	0.0061	0.0003	0	0	0	0	9.16e-07	0.0003	2.334e-05	0.0018	0.0018	0.0019	0.0016	0.0063	0.0016	0.0015	0.0057	0.0054	0.0063	0	0.0003	0	0	0	0	0	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1351.98	35	chr6	158589648	.	G	A	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=813;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.487;SOR=0.474	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1366,0,1629	20	0	1	0
chr6	158757284	158757284	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001318745:exon11:c.G593A:p.R198Q	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.542	P	0.012	N	1.000	D	2.545	M	3.01	T	-1.135	T	0.032	T	0.54	3.828	19.44	5.07	2.356	5.236	12.329	0.187	0.0192244947482	0.0008	0.00159744	0.0004	0.0034	8.684e-05	0	0	0	0	0.0006	0.0003687	57	154602	rs61738619	0.0001	0.0001	0.0001	0.0001	0.0035	0.0001	9.835e-05	0.0030	0.0028	0.0035	2.236e-05	0	2.519e-05	0	0.0002	6.295e-06	0.0003	0.0003	0.0010	0.0010	0.0010	0.0010	0.0035	0.0008	0.0008	0.0030	0.0028	0.0035	0	0.0001	0	0	0	0.0068	0	0.0005	0	0.011	0.55530	D	0.155	0.31936	T	0.993	0.65571	D	0.542	0.48916	P	0.011813	0.29393	N	0.328929	0.99954	0.47497	D	2.23	0.63091	M	3.01	0.09075	T	-3.35	0.66436	D	0.476	0.53796	-1.1355	0.01536	T	0.032	0.13635	T	10	0.011210978	0.00246	T	0.019224	0.41523	T	0.187	0.46274	.	.	0.353336612579	0.34937	0.3467548130385146	0.34589	0.0355776231093	0.03753	0.45345968008	0.32417	T	0.231103	0.59734	T	-0.419951	0.01712	T	-0.375877	0.36204	T	0.067460038024288	0.08290	T	0.855714	0.54342	D	0.3633028	0.58086	0.25948423	0.51697	0.3633028	0.58086	0.25948423	0.51696	-10.279	0.76836	D	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	5.113718	0.85502	28.6	0.99926206520833205	0.99103	0.92959	0.56970	D	AEFDBI	0.692849	0.65237	D	0.506861332321431	0.67496	5.089215	0.520283886975442	0.69355	5.348706	0.999999969287167	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	5.311000	0.65574	7.467000	0.59112	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0895:0.0:0.9105:0.0	12.329	0.54353	751	0.51694	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 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	1023.98	36	chr6	158757284	.	G	A	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=794;ExcessHet=0.0000;FS=2.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-6.500e-01;SOR=0.404	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1038,0,1121	20	0	1	0
chr6	158983727	158983727	G	C	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_031924:exon4:c.C427G:p.P143A,	Ciliary dyskinesia, primary, 32, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.844	P	0.487	P	0.000	N	1.000	D	1.44	L	2.24	T	-1.095	T	0.026	T	0.142	3.023	16.08	4.99	1.475	2.261	11.065	0.133	0.0111633165224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.26192	T	0.305	0.37173	T	0.844	0.46645	P	0.487	0.47260	P	0.000170	0.48594	N	0.215540	0.995924	0.81001	D	1.22	0.30592	L	2.24	0.17923	T	-4.72	0.79998	D	0.26	0.30233	-1.0952	0.04723	T	0.026	0.11131	T	10	0.31248105	0.48708	T	0.011163	0.28497	T	0.133	0.36157	0.698	0.83499	0.28058544554	0.27657	0.3305078705180137	0.32963	0.622078883374	0.56495	0.381396204233	0.22455	T	0.176439	0.52638	T	-0.243413	0.14916	T	-0.587423	0.13890	T	0.963352620601654	0.66634	D	0.907509	0.67274	D	0.15602826	0.35232	0.19854023	0.43691	0.15602826	0.35232	0.19854023	0.43690	-7.197	0.55460	T	.	.	0.055	0.01233	B	.;.	.;.	2.518882	0.32546	19.07	0.98754846296174958	0.45724	0.86036	0.45244	D	AEFI	0.178504	0.30577	N	0.13935599412722	0.48306	3.044743	0.209705451406937	0.50384	3.231136	0.190281270263459	0.17990	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.86	4.99	0.65942	2.343000	0.43657	3.411000	0.38190	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0701:0.1309:0.7991:0.0	11.065	0.47188	840	0.37365	.;.	.	.	.	.	.	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	709.98	36	chr6	158983727	.	G	C	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.321e+00;DP=752;ExcessHet=0.0000;FS=5.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.424;SOR=0.652	GT:AD:DP:GQ:PL	0/1:23,29:52:99:724,0,683	20	0	1	0
chr6	159233800	159233800	C	A	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon11:c.C3288A:p.H1096Q,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.586	P	0.321	B	0.080	N	1.000	N	0.805	L	3.95	T	-0.985	T	0.021	T	0.1	1.313	10.30	0.626	0.225	-0.360	2.285	0.023	0.0140862407451	0.0007	0.00199681	0.0019	0.0045	0.0060	0	0	0.0038	0	0.0002	0.000414	64	154602	rs377419969	0.0007	0.0007	0.0007	0.0007	0.0043	0.0006	0.0006	0.0037	0.0035	0.0043	0.0017	0.0144	0	0	0.0011	0.0003	0.0022	1.293e-05	0.0022	0.0022	0.0021	0.0023	0.0051	0.0020	0.0019	0.0045	0.0043	0.0051	0	0.0030	0.0127	0	0	0.0034	0.0004	0.0038	0.0002	0.06	0.37326	T	0.314	0.19480	T	0.451	0.36091	B	0.131	0.32951	B	0.079995	0.02343	N	1.953470	1	0.08975	N	1.445	0.36358	L	3.14	0.07920	T	-1.92	0.44657	N	0.111	0.09772	-0.9848	0.33879	T	0.021	0.08686	T	10	0.0035398304	0.00063	T	0.014086	0.33970	T	0.030	0.07022	0.192	0.10304	0.227260227426	0.22338	0.24123477099169047	0.24037	0.161493178693	0.18230	0.395314753056	0.24416	T	0.003235	0.02636	T	-0.668014	0.00056	T	-0.731104	0.04278	T	0.00699097976748374	0.00079	T	0.245375	0.03595	T	0.067034915	0.14478	0.064227805	0.12840	0.067034915	0.14477	0.064227805	0.12840	-2.685	0.07178	T	.	.	0.100	0.16973	B	.	.	0.328459	0.07025	3.586	0.73834868149393051	0.10472	0.09081	0.14908	N	AEFDBHCI	0.083277	0.16870	N	-0.921970774315492	0.10329	0.4930749	-1.04454427515696	0.08821	0.4356029	0.999720128616002	0.42220	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.562822	0.20929	0	.	.	4.15	0.626	0.16843	-0.495000	0.06524	-0.246000	0.10547	-0.629000	0.04519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2388:0.4394:0.0:0.3219	2.285	0.03872	808	0.43318	.	.	.	.	.	.	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	2094.98	65	chr6	159233800	.	C	A	2094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=1673;ExcessHet=0.0000;FS=2.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.441;SOR=0.536	GT:AD:DP:GQ:PL	0/1:68,80:148:99:2109,0,1540	20	0	1	0
chr6	160078349	160078349	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon37:c.C5465T:p.T1822M,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	721856	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.932	P	0.543	P	0.839	N	1.000	N	0.895	L	4.41	T	-1.018	T	0.003	T	0.057	1.849	12.14	-6.57	-1.289	0.081	10.833	0.145	.	0.0107	0.00998403	0.0027	0.0293	0.0017	0	0	6.002e-05	0.0033	0	0.0026584	411	154602	rs115412888	0.0008	0.0008	0.0009	0.0007	0.0266	0.0008	0.0008	0.0252	0.0246	0.0266	0.0023	0	2.519e-05	0	0.0014	6.026e-05	0.0020	5.797e-05	0.0081	0.0081	0.0082	0.0079	0.0277	0.0077	0.0075	0.0264	0.0259	0.0277	0	0.0036	0	0	0	0.0034	0.0001	0.0047	0.0002	0.078	0.33923	T	0.079	0.42086	T	0.932	0.51990	P	0.543	0.48966	P	0.838736	0.06986	N	1.073180	1	0.08975	N	.	.	.	4.41	0.02196	T	-1.34	0.33401	N	0.309	0.34874	-1.0182	0.24301	T	0.003	0.00994	T	10	0.0033277571	0.00057	T	.	.	.	0.145	0.38592	.	.	0.147330786459	0.14319	0.501255422585813	0.50047	0.863917638796	0.69099	0.291382670403	0.09123	T	0.10534	0.41572	T	-0.705315	0.00034	T	-0.762228	0.03033	T	0.0505044186865394	0.05588	T	0.873813	0.58316	D	0.037639637	0.04862	0.08313742	0.19028	0.05462563	0.10506	0.07414492	0.16188	-5.861	0.45102	T	.	.	0.1	0.17146	B	.;.	.;.	1.324783	0.17293	13.08	0.99242810388189862	0.56597	0.25105	0.22598	N	AEFDBCI	0.113474	0.22388	N	-0.927476513771125	0.10203	0.4864511	-1.1371234418207	0.07001	0.3389764	0.985467038318961	0.30892	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	-6.57	0.01674	0.175000	0.16577	-0.640000	0.08082	-0.785000	0.03297	0.005000	0.17040	0.000000	0.08366	0.086000	0.17578	0.147:0.363:0.49:0.0	10.833	0.45873	607	0.67291	.;.	.	.	.	.	.	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	0.02381	1057.98	36	chr6	160078349	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=794;ExcessHet=0.0000;FS=6.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-1.582e+00;SOR=1.358	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1072,0,1373	20	0	1	0
chr6	160595527	160595527	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon21:c.C3296G:p.T1099S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.426	B	0.711	P	.	.	1.000	N	1.04	L	-0.16	T	-0.833	T	0.103	T	0.029	0.752	7.985	-3.0	-0.640	-1.925	2.243	0.098	.	0.0102	0.00998403	0.0030	0.0340	0.0016	0	0	6.005e-05	0	0	0.0028201	436	154602	rs62621433	0.0009	0.0009	0.0010	0.0008	0.0308	0.0009	0.0008	0.0292	0.0286	0.0308	0.0021	0	0	0	0.0009	2.698e-05	0.0024	5.797e-05	0.0100	0.0100	0.0105	0.0095	0.0349	0.0096	0.0094	0.0334	0.0328	0.0349	0	0.0038	0.0003	0	0	0	8.821e-05	0.0043	0	0.152	0.24468	T	0.266	0.32040	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	-0.47	0.15178	N	0.066	0.03841	-0.8328	0.53120	T	0.103	0.38069	T	9	0.0035969913	0.00065	T	.	.	.	0.098	0.28162	.	.	0.110078149338	0.10416	0.17884030703567935	0.17803	0.0464434649399	0.05053	0.66068148613	0.61508	T	.	.	.	-0.647031	0.00075	T	-0.676429	0.07203	T	0.0442386124921351	0.04464	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48103	B	.;.	.;.	-0.062926	0.03868	0.839	0.94620233042025781	0.25197	0.02409	0.06817	N	AEFDGHCI	0.074665	0.14971	N	-0.840106184231623	0.12294	0.5983772	-1.01405294086214	0.09475	0.471641	0.00192172236108932	0.09011	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	2.31	-3.0	0.05148	-3.493000	0.00504	-20.000000	0.00162	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.321:0.0:0.2556:0.4234	2.243	0.03777	889	0.27310	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2412.98	33	chr6	160595527	.	G	C	2412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=882;ExcessHet=0.0000;FS=6.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.27;MQRankSum=-1.051e+00;QD=13.04;ReadPosRankSum=0.555;SOR=0.401	GT:AD:DP:GQ:PL	0/1:95,90:185:99:2427,0,2542	20	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:8,0,14:22:99:0|1:167976273_A_C:544,568,865,0,298,256:167976273	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,15,0:23:99:0|1:167976273_A_C:586,0,253,609,298,907:167976273	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,15,0:23:99:0|1:167976273_A_C:586,0,253,609,298,907:167976273	12	0	2	1
chr6	167976297	167976297	G	0	exonic	HGC6.3	.	.	.	.	.	4	213	8	0	1	9	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	597.91	88	chr6	167976297	.	G	A,*	597.91	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=0.024;DP=1081;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0153;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.37;MQRankSum=-2.210e-01;QD=3.36;ReadPosRankSum=1.13;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13,0:30:99:0|1:167976273_A_C:507,0,355,544,394,939:167976273	15	0	2	2
chr6	167976300	167976300	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C353T:p.A118V,	.	.	459	1006	40	3	14	60	0.0223518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.0041	0.0241	0.0088	0.0294	0.0098	0.0152	0.0028	0.0001153	3	26028	rs1453684562	0.0001	0.0008	9.497e-05	0.0001	0.0005	8.734e-05	8.111e-05	0.0003	0.0003	0	0.0004	0	0.0003	0.0009	0.0003	5.814e-05	0.0001	0.0005	0.0020	0.0089	0.0018	0.0022	0.0027	0.0017	0.0017	0.0018	0.0016	0.0022	0.0017	0.0018	0.0019	0.0021	0.0020	0	0.0018	0.0035	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13,0:30:99:0|1:167976273_A_C:507,0,355,544,394,939:167976273	16	0	2	1
chr6	167976300	167976300	G	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13,0:30:99:0|1:167976273_A_C:507,0,355,544,394,939:167976273	16	0	2	1
chr6	167976307	167976307	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C346T:p.P116S,	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0018	0.0035	0.0022	0.0278	0.0059	0	0	0.0003622	56	154602	rs71573433	1.516e-05	0.0002	1.454e-05	1.583e-05	0.0003	8.79e-06	6.88e-06	7.2e-06	2.69e-06	0	0	0	0.0003	0.0003	0	5.095e-06	0	4.341e-05	0.0006	0.0041	0.0005	0.0008	0.0009	0.0005	0.0005	0.0006	0.0005	0.0004	0.0013	0.0009	0.0010	0.0009	0.0002	0	0.0008	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13,0:30:99:0|1:167976273_A_C:466,0,357,504,394,898:167976273	16	0	2	1
chr6	167976307	167976307	G	0	exonic	HGC6.3	.	.	.	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13,0:30:99:0|1:167976273_A_C:466,0,357,504,394,898:167976273	16	0	2	1
chr6	167976539	167976539	T	0	exonic	HGC6.3	.	.	.	.	.	606	741	134	1	40	176	0.0840544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	846.58	47	chr6	167976539	.	T	G,*	846.58	.	AC=4,2;AF=0.200,0.100;AN=20;BaseQRankSum=0.039;DP=1478;ExcessHet=0.0018;FS=1.846;InbreedingCoeff=0.2202;MLEAC=6,2;MLEAF=0.300,0.100;MQ=54.59;MQRankSum=-4.254e+00;QD=4.73;ReadPosRankSum=1.28;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,9,0:10:26:1|1:167976539_T_G:344,26,0,354,35,403:167976539	6	1	2	11
chr6	167976540	167976540	T	0	exonic	HGC6.3	.	.	.	.	.	602	743	109	1	67	178	0.0695053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	759.27	105	chr6	167976540	.	T	*,A	759.27	.	AC=3,3;AF=0.150,0.150;AN=20;BaseQRankSum=0.168;DP=1478;ExcessHet=0.0018;FS=0.997;InbreedingCoeff=0.2202;MLEAC=3,5;MLEAF=0.150,0.250;MQ=54.68;MQRankSum=-2.539e+00;QD=2.18;ReadPosRankSum=-5.800e-01;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,76,9:86:99:0|1:167976539_T_G:1668,315,241,1352,0,1348:167976539	6	1	0	11
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	1|1:0,56,0:56:99:1|1:170561949_GCAA_G:2260,172,0,2261,172,2262:170561949	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	1|1:0,89,0:89:99:1|1:170561949_GCAA_G:3855,272,0,3300,413,4141:170561949	1	1	3	2
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1014.59	36	chr6	170561967	.	G	*,A	1014.59	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.850;DP=1725;ExcessHet=0.5418;FS=3.273;InbreedingCoeff=0.0735;MLEAC=7,1;MLEAF=0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=2.63;SOR=0.490	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,53,0:54:99:.:.:3737,260,0,3613,271,3686	14	1	5	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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|1:14,17:31:99:0|1:290724_A_G:153,0,105:290724	5	0	14	2
chr7	2377047	2377047	C	G	exonic	EIF3B	.	nonsynonymous SNV	EIF3B:NM_001037283:exon15:c.C2126G:p.P709R	.	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.914	P	0.729	P	0.000	D	1.000	D	2.545	M	1.79	T	-0.910	T	0.105	T	0.539	2.232	13.42	4.93	1.442	7.665	16.209	0.199	0.0219290478898	0.0050	0.00119808	0.0034	0.0009	0.0016	0	0.0022	0.0055	0.0056	0	0.0035058	542	154602	rs149974474	0.0046	0.0046	0.0048	0.0045	0.0056	0.0045	0.0045	0.0054	0.0054	0.0007	0.0020	0.0055	0	0.0025	0.0023	0.0056	0.0030	0.0001	0.0032	0.0032	0.0032	0.0031	0.0049	0.0030	0.0029	0.0044	0.0043	0.0009	0.0307	0.0019	0.0075	0	0.0024	0	0.0049	0.0028	0.0006	0.101	0.30375	T	0.167	0.30729	T	0.914	0.50529	P	0.729	0.55225	P	0.000004	0.62929	D	0.143003	0.999996	0.58761	D	2.03	0.55503	M	1.79	0.25509	T	-6.18	0.90294	D	0.607	0.63289	-0.9097	0.46891	T	0.105	0.38489	T	10	0.011627585	0.00253	T	0.021929	0.44763	T	0.199	0.48268	.	.	0.371749281113	0.36790	0.6444476579918422	0.64379	1.43814035219	0.85921	0.650924503803	0.60116	T	0.260175	0.63152	T	-0.370941	0.03546	T	-0.301882	0.44525	T	0.0599170411308836	0.07155	T	0.893211	0.63049	D	0.63074386	0.74338	0.39705384	0.64330	0.63074386	0.74339	0.39705384	0.64330	-11.405	0.81832	D	.	.	0.367	0.58416	A	.;.	.;.	4.272739	0.65018	24.8	0.98627420103404573	0.43866	0.97843	0.77545	D	AEFDGBCI	0.922874	0.89849	D	0.557627273835395	0.70549	5.517668	0.508455264083214	0.68558	5.236634	0.999999999392023	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.82	4.93	0.64394	7.752000	0.84018	7.622000	0.62351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.1342:0.8658:0.0:0.0	16.209	0.81966	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	1621.98	33	chr7	2377047	.	C	G	1621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=787;ExcessHet=0.0000;FS=4.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.26;ReadPosRankSum=0.138;SOR=1.194	GT:AD:DP:GQ:PL	0/1:34,60:94:99:1636,0,739	20	0	1	0
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:29,41,0:70:99:1625,0,1096,1714,1219,2933	12	0	7	0
chr7	2539634	2539634	G	A	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon11:c.C982T:p.P328S	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	.	1	1503	17	1	0	19	0.00628099	.	.	457691	BRAT1-related_disorder|Intellectual_disability|not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures	.|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|MedGen:C3661900|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.015	B	0.028	B	0.022	N	0.686	D	0.975	L	-0.6	T	-0.720	T	0.216	T	0.163	0.117	4.630	3.77	0.696	1.179	11.594	0.161	0.0832906642386	0.0006	0.000199681	0.0025	0.0002	0.0007	0	0	0.0024	0.0029	0.0052	0.0008603	133	154602	rs147745609	0.0010	0.0010	0.0009	0.0011	0.0059	0.0009	0.0009	0.0044	0.0038	0.0002	0.0004	0.0002	0	0.0002	0.0059	0.0009	0.0011	0.0029	0.0008	0.0008	0.0008	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	0.0001	0.0208	0.0003	0	0	0	0	0.0012	0.0014	0.0010	0.126	0.27194	T	0.366	0.16668	T	0.015	0.17086	B	0.028	0.21332	B	0.022169	0.26687	N	0.423407	0.685727	0.33277	D	1.995	0.54099	M	-0.6	0.71662	T	-3.6	0.69357	D	0.143	0.14338	-0.7195	0.59488	T	0.216	0.57771	T	10	0.008923501	0.00202	T	0.083291	0.74084	D	0.161	0.41658	.	.	0.358340041657	0.35441	0.18110774917316644	0.18029	0.0753024738117	0.08442	0.291468322277	0.09136	T	0.039983	0.25376	T	-0.403943	0.02181	T	-0.356377	0.38471	T	0.0190647891020398	0.00614	T	0.607039	0.22875	T	0.13266473	0.30883	0.20127085	0.44099	0.13266473	0.30882	0.20127085	0.44098	-4.405	0.29625	T	0.3383179608557051	0.43616	0.105	0.19438	B	.	.	2.941962	0.39120	20.9	0.77245230693310662	0.11796	0.72430	0.35452	D	AEFDGBHCI	0.105349	0.21052	N	-0.587227285456106	0.19332	1.010912	-0.523497015758999	0.21515	1.164	0.999999202710495	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.59	3.77	0.42499	1.238000	0.32310	1.993000	0.30087	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.927000	0.46353	0.0677:0.3456:0.5866:0.0	11.594	0.50218	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	363.98	35	chr7	2539634	.	G	A	363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.530;DP=756;ExcessHet=0.0000;FS=4.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=-3.880e-01;SOR=1.438	GT:AD:DP:GQ:PL	0/1:23,15:38:99:378,0,636	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|1:11,15,0:26:99:0|1:5313028_G_T:578,0,397,611,442,1053:5313028	0	6	14	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	0/4:6,0,0,2,8,0,0:16:99:260,276,506,276,506,506,196,443,443,474,0,197,197,129,156,276,506,506,443,197,506,276,506,506,443,197,506,506	1	3	5	0
chr7	24834734	24834734	G	A	exonic	OSBPL3	.	nonsynonymous SNV	OSBPL3:NM_145322:exon12:c.C1297T:p.P433S	.	.	.	.	.	.	.	.	.	.	.	2391885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.007	B	0.008	B	0.691	N	1.000	N	1.61	L	2.29	T	-0.967	T	0.097	T	0.114	0.615	7.309	5.14	1.556	2.219	5.578	0.077	0.0162391659496	.	.	8.642e-06	0	0	0	0	0	0	7.666e-05	1.29e-05	2	154602	rs765716332	4.283e-05	4.241e-05	4.534e-05	4.029e-05	0.0004	3.41e-05	3.095e-05	6.183e-05	3.423e-05	0.0001	0	0	2.524e-05	0	0.0004	4.879e-05	1.673e-05	0	6.569e-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	0.769	0.03834	T	0.6	0.07946	T	0.0	0.02946	B	0.001	0.08700	B	0.691135	0.06147	N	1.117940	0.999999	0.08975	N	1.04	0.26193	L	2.26	0.43672	T	0.59	0.04533	N	0.154	0.24010	-0.9667	0.37874	T	0.097	0.36315	T	10	0.049428374	0.04530	T	0.016239	0.37399	T	0.077	0.22490	0.25	0.18757	0.475034548194	0.47131	0.22413022352895262	0.22328	0.216627793868	0.24185	0.302959114313	0.10843	T	0.015361	0.12902	T	-0.38766	0.02785	T	-0.618776	0.11280	T	0.0233248875301383	0.01062	T	0.683732	0.29211	T	0.028188843	0.02119	0.04260511	0.05114	0.028188843	0.02119	0.04260511	0.05113	-2.562	0.06323	T	.	.	0.081	0.08802	B	.;.;.;.	.;.;.;.	1.069181	0.14516	11.08	0.85154037635374513	0.15718	0.03528	0.08716	N	AEFBCI	0.060226	0.11432	N	-0.605521208301719	0.18778	0.9776099	-0.560303832167894	0.20533	1.106657	0.999996405201083	0.74766	0.706548	0.73137	0	0.587265	0.34161	0	0.49644	0.08281	0	0.714379	0.83352	0	.	.	6.02	5.14	0.70008	1.871000	0.39176	7.624000	0.62436	0.618000	0.50648	0.034000	0.20669	1.000000	0.68203	0.092000	0.17891	0.1951:0.1603:0.6446:0.0	5.578	0.16515	719	0.55657	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	394.98	40	chr7	24834734	.	G	A	394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.444e+00;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=0.588;SOR=0.490	GT:AD:DP:GQ:PL	0/1:25,16:41:99:409,0,790	20	0	1	0
chr7	24849088	24849088	G	A	exonic	OSBPL3	.	nonsynonymous SNV	OSBPL3:NM_145320:exon10:c.C1154T:p.S385L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.002	B	0.961	N	1.000	D	1.67	L	2.18	T	-1.072	T	0.099	T	0.064	2.805	15.34	0.958	-0.115	1.236	8.942	0.093	0.0136069466471	.	.	4.956e-05	0	0.0003	0	0	1.501e-05	0	0.0001	4.53e-05	7	154602	rs374832998	5.27e-05	5.336e-05	5.584e-05	4.953e-05	0.0002	4.28e-05	3.955e-05	8.865e-05	6.43e-05	8.968e-05	0.0002	0	0	0	0.0002	5.579e-05	1.657e-05	2.32e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.12	0.27904	T	0.08	0.41913	T	0.001	0.07471	B	0.001	0.06944	B	0.960873	0.07716	N	1.015890	0.993297	0.50225	D	-0.255	0.03828	N	2.18	0.46412	T	-0.9	0.32387	N	0.274	0.33250	-1.0717	0.09043	T	0.099	0.37009	T	10	0.070949435	0.10392	T	0.013607	0.33144	T	0.093	0.26882	.	.	0.468336420597	0.46460	0.14350986431592538	0.14273	0.190206034257	0.21337	0.337577372789	0.16075	T	0.021493	0.16725	T	-0.478604	0.00753	T	-0.640544	0.09630	T	0.0613350988697026	0.07377	T	0.819218	0.47714	T	0.033099405	0.03462	0.051336657	0.08240	0.033099405	0.03461	0.051336657	0.08239	-4.573	0.31831	T	.	.	0.077	0.06479	B	.;.	.;.	2.235404	0.28541	17.83	0.99487395558540848	0.67235	0.69110	0.34059	D	AEFDBIJ	0.074563	0.14948	N	-0.357629350569142	0.26993	1.477533	-0.245157266034499	0.29937	1.681447	0.985235830323166	0.30852	0.706548	0.73137	0	0.653731	0.59785	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.69	0.958	0.18741	1.214000	0.32023	1.233000	0.25056	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.976000	0.56436	0.3299:0.0:0.6701:0.0	8.942	0.34896	773	0.48803	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1013.98	34	chr7	24849088	.	G	A	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=878;ExcessHet=0.0000;FS=1.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=0.673;SOR=0.904	GT:AD:DP:GQ:PL	0/1:63,43:106:99:1028,0,1424	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	1/1:0,138,0:138:99:.:.:4622,414,0,4622,414,4622	0	18	1	0
chr7	28956680	28956680	-	GCTGCG	exonic	TRIL	.	nonframeshift insertion	TRIL:NM_014817:exon1:c.1366_1367insCGCAGC:p.Q455_L456insPQ,	.	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.994e-05	0	0	0.0002	0	8.472e-05	9.7e-05	15	154602	rs774355324	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	9.638e-05	0	0	0	0.0014	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0001	0	0	9.427e-05	0	0.0003	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1961.07	77	chr7	28956680	.	A	AGCTGCG	1961.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.60;DP=1225;ExcessHet=0.1072;FS=3.454;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=-2.820e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/1:29,25:54:99:951,0,1143	19	0	2	0
chr7	43469070	43469070	C	T	exonic	HECW1	.	nonsynonymous SNV	HECW1:NM_001287059:exon14:c.C2962T:p.R988W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	0.945	L	-1.94	D	0.351	D	0.630	D	0.876	4.498	24.1	4.67	2.631	1.720	15.830	0.677	0.110743851129	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs957355401	6.841e-06	6.84e-06	5.445e-06	8.251e-06	4.472e-05	3.46e-06	2.52e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	6.295e-06	0	1.159e-05	6.572e-06	6.566e-06	0	1.345e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	-1.94	0.84919	D	-6.21	0.90411	D	0.878	0.87590	0.351	0.88353	D	0.630	0.87009	D	10	0.8693989	0.86199	D	0.110744	0.78825	D	0.677	0.88109	0.702	0.83869	0.834039320202	0.83246	0.6893241818015614	0.68872	1.41684164526	0.85530	0.834777355194	0.87295	D	0.54003	0.84234	D	0.21957	0.75735	D	0.253467	0.85781	D	0.989045917987823	0.79308	D	0.987901	0.96056	D	0.7842466	0.82916	0.6214156	0.77944	0.7842466	0.82917	0.6214156	0.77945	-10.351	0.75986	D	.	.	0.953	0.87248	P	.;.	.;.	4.941616	0.81561	27.6	0.99933656673982685	0.99488	0.77294	0.37987	D	AEFBCI	0.776447	0.70955	D	0.483127821532792	0.66104	4.907292	0.497068682415365	0.67797	5.132154	0.999999918524766	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.58	4.67	0.58089	1.764000	0.38100	2.666000	0.33914	0.549000	0.26987	0.904000	0.31524	0.994000	0.32194	0.998000	0.85391	0.1364:0.8636:0.0:0.0	15.830	0.78518	851	0.35303	WW domain|WW domain|WW 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	1140.98	34	chr7	43469070	.	C	T	1140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=791;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.389;SOR=0.419	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1155,0,1207	20	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	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	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,29,0:101:99:.:.:177,0,1998,391,2078,2470	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	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	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,29,0:101:99:.:.:177,0,1998,391,2078,2470	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	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	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,18,11:101:40:.:.:40,0,2139,83,1997,2169	0	0	17	1
chr7	47915452	47915452	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon8:c.T1208C:p.L403P,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	430	1070	20	2	0	24	0.0110906	.	.	700117	not_provided|PKD1L1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.659	P	0.049	B	0.000	U	1.000	N	0	N	1.65	T	-1.040	T	0.023	T	0.192	-0.906	0.426	0.633	0.511	0.561	.	0.162	.	0.0105	0.00479233	0.0075	0.0095	0.0057	0	0.0085	0.0095	0.0088	0.0026	0.0073738	1140	154602	rs146750610	0.0084	0.0084	0.0084	0.0083	0.0130	0.0082	0.0081	0.0103	0.0097	0.0094	0.0065	0.0054	0	0.0076	0.0130	0.0100	0.0084	0.0026	0.0092	0.0092	0.0098	0.0086	0.0112	0.0088	0.0087	0.0105	0.0102	0.0088	0	0.0088	0.0066	0	0.0079	0.0170	0.0112	0.0123	0.0015	0.325	0.13349	T	0.345	0.17750	T	0.659	0.40886	P	0.049	0.25116	B	0.000038	0.00348	U	54.428400	1	0.08975	N	-0.345	0.03330	N	1.65	0.27650	T	-1.03	0.27052	N	0.412	0.45237	-1.0398	0.17374	T	0.023	0.09787	T	9	0.0037185848	0.00069	T	.	.	.	0.162	0.41843	.	.	0.305730143919	0.30178	0.20323975704259653	0.20240	0.15169249651	0.17120	0.442275464535	0.30888	T	0.020967	0.16414	T	-0.596252	0.00154	T	-0.622429	0.10995	T	0.00942255087255087	0.00121	T	0.327867	0.06820	T	0.55444974	0.70202	0.3174846	0.57723	0.55444974	0.70204	0.3174846	0.57722	-5.172	0.38656	T	.	.	0.132	0.28464	B	.	.	0.650242	0.10185	6.928	0.79395962093093431	0.12722	0.00522	0.02430	N	AEFDBI	0.058155	0.10890	N	-0.966124456187936	0.09335	0.4413434	-1.09479251839727	0.07801	0.3809623	0.989391670831821	0.31812	0.569682	0.32691	0	0.563428	0.19063	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	0.633	0.633	0.16883	0.347000	0.19760	-0.905000	0.06976	0.562000	0.28470	0.237000	0.24716	0.000000	0.08366	0.232000	0.22788	.	.	.	929	0.16858	.	.	.	.	.	.	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	710.98	34	chr7	47915452	.	A	G	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.590e-01;DP=737;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.631e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/1:18,29:47:99:725,0,412	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|1:71,11:82:41:0|1:48103308_C_T:41,0,2348:48103308	10	0	9	2
chr7	48925892	48925892	G	A	exonic	CDC14C	.	nonsynonymous SNV	CDC14C:NM_152627:exon1:c.G1220A:p.R407Q,	.	.	467	1051	4	0	0	4	0.00189934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0004	0.0002	0.0007	0	7.587e-05	0.0014	0.0064	0.0001537	4	26028	rs761855097	0.0005	0.0013	0.0003	0.0007	0.0039	0.0005	0.0005	0.0035	0.0033	0.0014	0.0003	0.0010	0.0001	0	0	2.362e-05	0.0004	0.0039	0.0008	0.0011	0.0005	0.0010	0.0114	0.0007	0.0006	0.0090	0.0081	0.0011	0	0.0003	0.0014	0.0006	0	0	8.821e-05	0	0.0114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118587315	0.00257	T	.	.	.	.	.	.	.	.	.	0.3164583857378574	0.31558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79652	0.44001	T	0.06481028	0.13787	0.08490264	0.19565	0.06481028	0.13786	0.08490264	0.19565	-4.394	0.29475	T	.	.	0.077	0.06617	B	.;.	.;.	2.583314	0.33495	19.36	0.69887092033886955	0.09116	0.04172	0.09668	N	AEFDGI	.	.	.	.	.	.	.	.	.	4.44322398768854E-5	0.03989	0.06567	0.01388	0	0.063388	0.01293	0	0.091372	0.02933	0	0.057018	0.00518	0	0.102069	0.22515	0.395	-0.789	0.10383	0.000000	0.12910	5.560000	0.48915	-0.810000	0.03076	0.966000	0.33990	1.000000	0.68203	0.002000	0.04165	.	.	.	944	0.12746	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	133.98	44	chr7	48925892	.	G	A	133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=817;ExcessHet=0.0000;FS=1.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.24;MQRankSum=-1.992e+00;QD=5.36;ReadPosRankSum=-9.600e-02;SOR=1.282	GT:AD:DP:GQ:PL	0/1:19,6:25:99:148,0,552	20	0	1	0
chr7	55425326	55425326	C	T	exonic	LANCL2	.	nonsynonymous SNV	LANCL2:NM_018697:exon7:c.C1081T:p.R361W,	.	.	432	1089	1	0	0	1	0.000458926	.	.	2288405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	0.000	D	1.000	D	2.98	M	0.92	T	-0.529	T	0.265	T	0.453	3.092	16.33	4.49	1.401	3.330	7.019	0.347	0.141622350235	.	0.000399361	8.237e-05	0.0002	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs201797363	3.147e-05	3.147e-05	2.995e-05	3.3e-05	0.0003	2.412e-05	2.157e-05	6.092e-05	2.521e-05	2.987e-05	4.472e-05	0	0	0	0.0003	3.507e-05	3.311e-05	0	5.911e-05	5.906e-05	6.426e-05	5.374e-05	7.351e-05	3.076e-05	2.209e-05	2.847e-05	1.858e-05	7.221e-05	0	0	0	0	9.422e-05	0	7.351e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.95	0.84923	M	0.92	0.44461	T	-5.45	0.85468	D	0.615	0.63120	-0.5289	0.67583	T	0.265	0.63630	T	10	0.5938543	0.66531	D	0.141622	0.82403	D	0.347	0.66863	.	.	0.470535617109	0.46680	0.7675401872524674	0.76703	0.939492545994	0.72166	0.81851708889	0.84802	D	0.23162	0.59799	T	-0.237322	0.15691	T	-0.299238	0.44805	T	0.967156887054443	0.67815	D	0.939806	0.77272	D	0.4811339	0.65969	0.43293878	0.66863	0.4811339	0.65970	0.43293878	0.66863	-11.839	0.84058	D	.	.	0.776	0.76179	P	.	.	5.244406	0.88041	29.5	0.99912441427686016	0.98167	0.87330	0.46836	D	AEFDBCI	0.513285	0.54115	D	0.504070768099616	0.67331	5.067288	0.370020546432119	0.59721	4.152556	0.999918095817297	0.45857	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.49	0.54177	3.333000	0.51806	3.214000	0.36817	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.437000	0.27605	0.2631:0.6535:0.0:0.0834	7.019	0.24081	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	0	0	0	0	0.02381	1226.98	39	chr7	55425326	.	C	T	1226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.287e+00;DP=793;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.686;SOR=0.861	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1241,0,1301	20	0	1	0
chr7	67278813	67278813	C	T	exonic	SPDYE21	.	nonsynonymous SNV	SPDYE21:NM_001382715:exon1:c.C100T:p.R34W,	.	.	524	991	7	0	0	7	0.00351936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs202224670	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0003	0.0003	0.0040	0.0002	0.0002	0.0026	0.0022	0	0	0.0002	0	0	0	0.0068	0.0003	0.0014	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	534.98	34	chr7	67278813	.	C	T	534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.733;DP=773;ExcessHet=0.0000;FS=1.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.53;MQRankSum=-4.791e+00;QD=9.07;ReadPosRankSum=0.378;SOR=0.464	GT:AD:DP:GQ:PL	0/1:35,24:59:99:549,0,863	20	0	1	0
chr7	74338861	74338861	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon3:c.C535T:p.P179S	.	.	430	1063	26	3	0	32	0.0148285	.	.	700213	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.64	T	0.007	B	0.016	B	0.000	D	1.000	D	0.345	N	-0.74	T	-0.838	T	0.210	T	0.199	3.047	16.17	4.92	2.578	7.406	16.914	0.143	.	0.0032	0.00459265	0.0046	0.0012	0.0027	0.0002	0.0003	0.0049	0.0108	0.0099	0.0043014	665	154602	rs61739991	0.0042	0.0042	0.0039	0.0046	0.0123	0.0041	0.0041	0.0100	0.0094	0.0005	0.0032	0.0044	0.0005	0.0004	0.0123	0.0041	0.0050	0.0102	0.0032	0.0032	0.0032	0.0031	0.0116	0.0029	0.0029	0.0092	0.0083	0.0010	0	0.0030	0.0049	0.0006	0.0003	0.0136	0.0045	0.0038	0.0116	0.07	0.35349	T	0.055	0.52060	T	0.007	0.14184	B	0.016	0.17743	B	0.000404	0.44736	D	0.150290	0.999984	0.54805	D	0.695	0.17993	N	-0.74	0.73205	T	-1.74	0.41239	N	0.344	0.40565	-0.8381	0.52773	T	0.210	0.56946	T	10	0.0058303773	0.00130	T	.	.	.	0.143	0.38195	.	.	0.434057395736	0.43027	0.6033479092388576	0.60265	0.7593053508	0.64165	0.618176221848	0.55472	T	0.100807	0.40697	T	-0.41675	0.01795	T	-0.363447	0.37653	T	0.0227129971421767	0.00990	T	0.79822	0.44736	T	0.066992566	0.14466	0.09611729	0.22824	0.066992566	0.14465	0.09611729	0.22824	-1.478	0.01783	T	.	.	0.073	0.10208	B	.;.;.	.;.;.	3.079231	0.41422	21.4	0.99525916157939909	0.69530	0.98437	0.82768	D	AEFDBCIJ	0.799496	0.72574	D	-0.276975217780625	0.30041	1.67133	-0.0949209573397272	0.35600	2.061546	0.999999999999923	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	4.702000	0.61504	4.757000	0.44693	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.391000	0.26581	0.0:1.0:0.0:0.0	16.914	0.86014	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4957.68	85	chr7	74338861	.	C	T	4957.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.163;DP=1599;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.389;SOR=0.652	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1671,0,1576	18	0	3	0
chr7	92534705	92534705	C	A	exonic	RBM48	.	nonsynonymous SNV	RBM48:NM_001363366:exon4:c.C752A:p.S251Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.015	B	0.132	B	0.916	N	1.000	N	0.895	L	.	.	-1.017	T	0.085	T	0.07	0.912	8.713	3.71	2.543	0.393	3.880	0.087	0.0062653100251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.55530	D	0.065	0.44702	T	0.003	0.11197	B	0.001	0.04355	B	0.915586	0.08523	N	0.961885	1	0.08975	N	0	0.06538	N	.	.	.	-1.5	0.36586	N	0.148	0.15046	-1.0172	0.24625	T	0.085	0.33128	T	9	0.08715528	0.14886	T	0.006265	0.16435	T	0.087	0.25287	0.243	0.17677	0.618611905951	0.61553	0.14619781876178406	0.14541	0.270108457044	0.29533	0.260625034571	0.04965	T	0.029107	0.20930	T	-0.277222	0.10964	T	-0.635986	0.09965	T	0.160240928153912	0.17890	T	0.667233	0.27634	T	0.048679784	0.08522	0.079567455	0.17924	0.048679784	0.08522	0.079567455	0.17923	-4.927	0.36037	T	0.1707462170240297	0.21486	0.081	0.12938	B	.;.	.;.	0.777332	0.11474	8.077	0.76655685572855359	0.11556	0.11477	0.16660	N	AEFDGBHI	0.048175	0.08193	N	-0.642322433097636	0.17684	0.9120809	-0.640614740980239	0.18455	0.9858883	0.997401775550284	0.35583	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.6	3.71	0.41733	0.357000	0.19935	1.622000	0.27692	0.549000	0.26987	0.004000	0.16614	0.002000	0.18203	0.005000	0.06747	0.0:0.5824:0.2395:0.1781	3.880	0.08578	823	0.40596	.;.	.	.	.	.	.	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	1369.98	33	chr7	92534705	.	C	A	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.459e+00;DP=835;ExcessHet=0.0000;FS=0.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-7.750e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:60,51:111:99:1384,0,1738	20	0	1	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	0/1:137,41:178:99:.:.:146,0,3657	2	0	19	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.254	B	0.323	B	0.000	D	1.000	D	2.2	M	.	.	-0.539	T	0.336	T	0.848	3.986	20.4	4.74	2.629	4.848	17.024	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE 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	0.1905	359.48	99	chr7	93996297	.	C	G	359.48	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-3.848e+00;DP=2300;ExcessHet=3.5521;FS=355.066;InbreedingCoeff=-0.2345;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=0.909;SOR=13.026	GT:AD:DP:GQ:PL	0/1:58,21:89:7:7,0,1144	13	0	8	0
chr7	94910413	94910413	G	A	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon1:c.G300A:p.M100I	.	.	419	1102	1	0	0	1	0.000453515	.	.	2248247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.005	B	0.003	B	0.066	N	1.000	N	1.265	L	2.61	T	-1.036	T	0.024	T	0.202	-0.454	1.895	4.81	2.885	1.083	4.112	0.095	0.00295001199439	.	0.000199681	2.477e-05	9.664e-05	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs374284975	4.788e-06	4.788e-06	2.722e-06	6.875e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.993e-07	0	5.797e-05	6.567e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.377	0.12837	T	0.196	0.27943	T	0.001	0.07471	B	0.001	0.04355	B	0.065794	0.21855	N	0.551584	0.999986	0.18198	N	-0.69	0.01958	N	2.6	0.13204	T	-0.26	0.11185	N	0.144	0.23125	-1.0358	0.18606	T	0.024	0.10058	T	9	0.0399867	0.02532	T	0.00295	0.06280	T	0.095	0.27398	0.141	0.04462	0.348101942276	0.34424	0.12096790652155705	0.12023	0.183250991778	0.20612	0.406516969204	0.25975	T	0.04381	0.26620	T	-0.423517	0.01625	T	-0.609461	0.12029	T	0.0443630919160399	0.04486	T	0.90111	0.66162	D	0.09402783	0.22099	0.06841732	0.14284	0.09402783	0.22098	0.06841732	0.14283	-1.81	0.02665	T	.	.	0.183	0.39748	B	.;.;.;.;.;.	.;.;.;.;.;.	3.048530	0.40899	21.3	0.84970725545106052	0.15607	0.73422	0.35915	D	AEFBI	0.167417	0.29409	N	-0.199289090099686	0.33164	1.878449	-0.0583635027542903	0.37131	2.169943	0.988222318101684	0.31448	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.616125	0.45549	0	.	.	5.75	4.81	0.61401	1.115000	0.30823	8.303000	0.76935	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.354000	0.25750	0.0758:0.2302:0.4811:0.2129	4.112	0.09533	459	0.78817	.;.;.;.;.;.	.	.	.	.	.	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	1691.98	35	chr7	94910413	.	G	A	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.110e-01;DP=846;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.545;SOR=0.885	GT:AD:DP:GQ:PL	0/1:72,65:137:99:1706,0,1887	20	0	1	0
chr7	99425250	99425250	C	T	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.G1282A:p.A428T	.	.	419	1069	34	0	0	34	0.0156538	.	.	2825912	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.06	B	0.021	B	0.323	N	1.000	N	0.345	N	-0.09	T	-1.026	T	0.105	T	0.154	1.099	9.484	2.75	0.275	0.090	6.653	0.019	.	0.0012	0.00219649	0.0022	0.0005	0.0008	0	0.0002	0.0017	0.0044	0.0083	0.0020504	317	154602	rs147045279	0.0017	0.0017	0.0014	0.0019	0.0141	0.0016	0.0016	0.0116	0.0107	0.0005	0.0011	0.0015	0	5.628e-05	0.0141	0.0012	0.0022	0.0087	0.0014	0.0014	0.0013	0.0015	0.0075	0.0013	0.0012	0.0055	0.0049	0.0004	0	0.0018	0.0017	0	9.416e-05	0.0170	0.0017	0.0033	0.0075	0.628	0.05262	T	0.581	0.08476	T	0.036	0.23119	B	0.005	0.19346	B	0.323285	0.14234	N	0.719311	1	0.08975	N	0.345	0.11182	N	-0.12	0.64630	T	0.44	0.03243	N	0.189	0.21056	-1.0264	0.21625	T	0.105	0.38464	T	10	0.0060635805	0.00136	T	.	.	.	0.019	0.03383	.	.	0.253205268125	0.24938	0.2198370897639818	0.24760	0.0920449276398	0.10393	0.221883535385	0.01422	T	0.010152	0.09188	T	-0.504016	0.00543	T	-0.490363	0.23352	T	0.000743209232149787	0.00007	T	0.238576	0.03390	T	0.021128131	0.00700	0.034246337	0.02459	0.021128131	0.00700	0.034246337	0.02459	-4.056	0.24639	T	.	.	0.066	0.02927	B	.;.	.;.	0.545576	0.09141	5.925	0.65804664471432339	0.07877	0.01854	0.05730	N	AEFBI	0.028975	0.02651	N	-1.14432020220704	0.05874	0.2689332	-1.10255730857523	0.07651	0.3730167	1.45210377330431E-4	0.05573	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.66	2.75	0.31439	0.236000	0.17745	1.932000	0.29777	-0.107000	0.15377	0.002000	0.15269	0.962000	0.29361	0.034000	0.13613	0.3204:0.1307:0.5489:0.0	6.653	0.22162	400	0.82730	.;.	.	.	.	.	.	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	4612.92	34	chr7	99425250	.	C	T	4612.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.33;DP=1015;ExcessHet=0.6776;FS=1.657;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.468;SOR=0.631	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1147,0,1034	17	0	4	0
chr7	99676187	99676187	-	C	exonic	CYP3A5	.	frameshift insertion	CYP3A5:NM_000777:exon2:c.92dupG:p.L32Tfs*3	.	.	424	1076	22	0	0	22	0.0101196	.	.	2825915	not_provided|CYP3A5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00339457	0.0075	0.0014	0.0034	0	0.0045	0.0110	0.0022	0.0054	0.0010758	28	26028	rs200579169	0.0081	0.0081	0.0081	0.0080	0.0091	0.0079	0.0079	0.0090	0.0089	0.0012	0.0047	0.0071	2.52e-05	0.0042	0.0069	0.0091	0.0074	0.0059	0.0059	0.0059	0.0059	0.0058	0.0094	0.0056	0.0054	0.0088	0.0085	0.0016	0	0.0063	0.0061	0	0.0026	0.0170	0.0094	0.0071	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2219.94	34	chr7	99676187	.	T	TC	2219.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.609e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.50;ReadPosRankSum=-6.730e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,59:120:99:0|1:99676187_T_TC:2234,0,2384:99676187	20	0	1	0
chr7	99676192	99676192	G	A	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon2:c.C88T:p.H30Y	.	.	423	1077	22	0	0	22	0.0101103	.	.	2825916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.009	B	0.033	B	0.003	N	1.000	N	1.04	L	3.04	T	-0.947	T	0.011	T	0.151	-1.015	0.239	1.87	0.209	1.409	8.276	0.071	.	0.0068	0.00339457	0.0075	0.0014	0.0034	0	0.0045	0.0110	0.0022	0.0054	0.0072121	1115	154602	rs28383468	0.0081	0.0081	0.0082	0.0080	0.0091	0.0079	0.0079	0.0090	0.0089	0.0012	0.0047	0.0071	2.52e-05	0.0042	0.0069	0.0091	0.0074	0.0060	0.0059	0.0059	0.0060	0.0058	0.0094	0.0056	0.0055	0.0088	0.0086	0.0016	0	0.0063	0.0060	0	0.0026	0.0170	0.0094	0.0071	0.0054	0.549	0.09486	T	1.0	0.16570	T	0.004	0.12183	B	0.012	0.16012	B	0.003281	0.35154	N	0.279306	1	0.08975	N	1.205	0.30389	L	3.04	0.08810	T	-1.73	0.68532	N	0.163	0.17553	-0.9473	0.41431	T	0.011	0.04274	T	10	0.004989326	0.00107	T	.	.	.	0.071	0.20720	.	.	0.163833314356	0.15978	0.8439105298094285	0.84352	0.245701231888	0.27094	.	.	.	0.004418	0.03828	T	-0.612135	0.00123	T	-0.644104	0.09373	T	0.00456155968340414	0.00049	T	0.811819	0.46320	T	0.048797607	0.08563	0.07286222	0.15767	0.048797607	0.08562	0.07286222	0.15767	-6.595	0.51015	T	.	.	0.136	0.29697	B	.;.	.;.	1.234343	0.16293	12.45	0.30315832732645831	0.01652	0.03138	0.08093	N	AEFBI	0.225843	0.34988	N	-1.31597404548288	0.03492	0.1560738	-1.31013412846963	0.04298	0.2024405	0.839449184831597	0.24839	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.78	1.87	0.24559	1.596000	0.36329	-0.031000	0.12795	-0.129000	0.13216	0.064000	0.21895	0.000000	0.08366	0.367000	0.26044	0.2274:0.0:0.7726:0.0	8.276	0.31035	76	0.96806	.;.	MOSPD3|TRIM4|GPC2|CYP3A4|STAG3	Adrenal_Gland|Colon_Transverse|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis	.	.	rs28383468	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	2258.98	34	chr7	99676192	.	G	A	2258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.696e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=-4.090e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,60:121:99:0|1:99676187_T_TC:2273,0,2381:99676187	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|1:46,22:68:99:0|1:100175805_G_C:376,0,1502:100175805	0	0	21	0
chr7	100319686	100319686	C	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon9:c.C1468T:p.R490C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	1.1	L	.	.	-1.000	T	0.066	T	0.344	1.012	9.135	-0.298	-1.112	-2.341	.	0.065	0.000460228980264	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755684175	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	2.987e-05	0	0	0	0	0	0	0	3.478e-05	1.314e-05	1.313e-05	0	2.69e-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	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.2	0.09183	N	.	.	.	-2.59	0.55821	D	0.288	0.32591	-1.0001	0.29888	T	0.066	0.27364	T	5	0.11067763	0.20695	T	4.6E-4	0.00116	T	0.065	0.18881	0.404	0.43573	0.043077524339	0.03247	0.11460460068778605	0.11388	0.0817590803949	0.09208	.	.	.	0.088056	0.38077	T	-0.20404	0.20224	T	-0.434012	0.29480	T	0.495971736190381	0.32482	T	0.573743	0.20563	T	0.20751792	0.42960	0.1761592	0.40131	0.20751792	0.42960	0.1761592	0.40130	-3.99	0.23654	T	.	.	0.185	0.40015	B	.	.	1.557765	0.19955	14.52	0.9781672580798233	0.36168	0.00044	0.00357	N	AEFDBI	0.023460	0.01311	N	-1.21792395420769	0.04740	0.2145745	-1.45606106176701	0.02716	0.1254249	2.11768540850389E-5	0.03498	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	0.149	-0.298	0.12179	-2.401000	0.01126	-7.613000	0.01120	-3.566000	0.00075	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	281	0.88893	.	.	.	.	.	.	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	2061.98	33	chr7	100319686	.	C	T	2061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-02;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=1.06;SOR=0.716	GT:AD:DP:GQ:PL	0/1:82,87:169:99:2076,0,1900	20	0	1	0
chr7	100751208	100751208	C	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon13:c.C1548G:p.S516R	.	.	430	1010	80	2	0	84	0.039924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.008	B	0.385	N	1.000	N	1.65	L	4.45	T	-0.924	T	0.009	T	0.351	1.887	12.27	1.3	0.355	1.068	3.906	0.040	.	0.0013	0.00459265	0.0058	0.0005	0.0020	0	0.0004	0.0027	0.0268	0.0286	0.0043078	666	154602	rs201142260	0.0026	0.0027	0.0018	0.0035	0.0262	0.0026	0.0025	0.0253	0.0249	0.0004	0.0011	0.0036	5.046e-05	0.0004	0.0192	0.0010	0.0036	0.0262	0.0021	0.0021	0.0014	0.0028	0.0270	0.0019	0.0018	0.0232	0.0218	0.0002	0	0.0017	0.0040	0	0.0007	0.0274	0.0016	0.0038	0.0270	.	.	.	0.008	0.67890	D	0.005	0.12996	B	0.008	0.13708	B	0.384634	0.04441	N	1.496520	1	0.08975	N	1.8	0.47472	L	4.45	0.02121	T	-2.3	0.51157	N	0.184	0.23125	-0.9240	0.44999	T	0.009	0.03448	T	10	0.00474146	0.00100	T	.	.	.	0.040	0.10527	0.594	0.72371	0.124217242631	0.12060	0.2111362059142021	0.21029	0.206476620277	0.23073	0.291453421116	0.09133	T	0.015962	0.13288	T	-0.437129	0.01344	T	-0.381758	0.35516	T	0.00894263022229421	0.00111	T	0.441056	0.12198	T	0.052750442	0.09883	0.06545608	0.13270	0.052750442	0.09883	0.06545608	0.13270	-3.859	0.21689	T	.	.	0.124	0.26138	B	.;.;.;.	.;.;.;.	0.704592	0.10733	7.424	0.98809529819632336	0.46590	0.06952	0.12979	N	AEFBI	0.069409	0.13736	N	-0.963840597858447	0.09384	0.4439173	-1.04830437396366	0.08743	0.4313272	1.4977826586808E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	3.13	1.3	0.20778	0.784000	0.26477	0.778000	0.21455	-0.182000	0.10109	0.001000	0.13787	0.248000	0.23899	0.004000	0.06068	0.2358:0.6362:0.0:0.128	3.906	0.08682	702	0.57624	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM 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	1163.98	35	chr7	100751208	.	C	G	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.740e-01;DP=769;ExcessHet=0.0000;FS=3.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.19;ReadPosRankSum=1.22;SOR=0.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,46:64:99:0|1:100751208_C_G:1178,0,616:100751208	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|2:0,0,102:102:99:1|1:100773849_CCAT_C:4588,4588,4588,307,307,0:100773849	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|1:0,103,0:103:99:1|1:100773849_CCAT_C:4617,310,0,4617,310,4617:100773849	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|1:339,129,43:511:99:0|1:100952942_T_G:4396,0,13846,3611,12429,17716:100952942	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|1:521,77,0:598:99:0|1:100953014_G_A:1665,0,21645,3233,21877,25110:100953014	6	0	14	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F,	.	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	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	0.1667	8258.55	795	chr7	100953071	.	C	T	8258.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=3.74;DP=15016;ExcessHet=2.5830;FS=6.358;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=57.50;MQRankSum=-3.156e+00;QD=1.60;ReadPosRankSum=-2.712e+00;SOR=1.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:539,60:599:99:0|1:100953014_G_A:897,0,22452:100953014	14	0	7	0
chr7	100953083	100953083	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1304A:p.T435N,	.	.	427	1053	42	0	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.138e-05	0.0029	1.486e-05	8.081e-06	1.475e-05	6.11e-06	4.46e-06	6.09e-06	4.41e-06	0	0	0	0	2.853e-05	0	1.294e-05	0	1.475e-05	2.978e-05	0.0051	5.866e-05	0	0.0004	4.94e-06	1.85e-06	.	.	6.829e-05	0	0	0	0.0004	0	0	0	0	0	.	.	.	0.28	0.21678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	0.05432555	0.05765	T	.	.	.	.	.	.	.	.	.	0.037030229045629026	0.03650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40416	0.10358	T	.	.	.	.	.	.	.	.	-4.954	0.36336	T	.	.	0.167	0.36752	B	.;.	.;.	0.096276	0.04987	1.547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.748000	0.04924	-10.414000	0.00704	-0.257000	0.07002	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	0.1053	2908.01	762	chr7	100953083	.	C	A	2908.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.50;DP=14857;ExcessHet=0.6776;FS=9.262;InbreedingCoeff=-0.1489;MLEAC=4;MLEAF=0.105;MQ=57.48;MQRankSum=-3.473e+00;QD=1.05;ReadPosRankSum=-3.709e+00;SOR=2.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:538,55:593:99:0|1:100953014_G_A:690,0,22425:100953014	15	0	4	2
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|2:345,47,102:494:99:0|1:100953112_T_A:3244,2309,16654,0,12513,14179:100953112	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	0/1:351,95,33:481:99:2932,0,14452,2603,13353,17242	1	0	18	0
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	0/1:337,178,0:578:99:.:.:6460,0,13615,7474,14151,21625	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|1:637,96,0:733:99:0|1:100953486_C_A:2114,0,26459,4031,26748,30779:100953486	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|1:688,55,0:743:99:0|1:100953487_C_A:213,0,28392,2284,28558,30841:100953487	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	0/1:646,117,0:763:99:.:.:2968,0,26773,4913,27125,32038	3	0	15	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|1:358,95,0:453:99:0|1:100955555_C_T:2911,0,14746,3989,15032,19021:100955555	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|1:362,94,0:456:99:0|1:100955555_C_T:2857,0,14917,3947,15200,19147:100955555	3	0	14	1
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	0/1:72,70,0:142:99:.:.:1608,0,1847,1823,2056,3879	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|2:325,105,120:550:99:0|1:100960582_T_A:5461,505,13464,0,10342,12952:100960582	0	0	15	0
chr7	100993793	100993793	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G3230C:p.R1077P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	.	.	1.000	N	0	N	2.56	T	-0.960	T	0.013	T	0.075	-1.543	0.015	-1.43	-1.374	-3.324	3.600	0.012	0.00621508415409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.401e-07	2.145e-06	1.666e-06	0	.	0	0	.	.	0	0	4.363e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.16305	T	0.121	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	2.56	0.13673	T	0.74	0.02195	N	0.072	0.04547	-0.9602	0.39143	T	0.013	0.05321	T	7	0.043498784	0.03206	T	0.006215	0.16288	T	0.012	0.01476	0.248	0.18447	0.0611884634855	0.05136	0.005906217657864873	0.00559	.	.	0.43521848321	0.29923	T	0.003125	0.02525	T	-0.402733	0.02222	T	-0.816275	0.01529	T	0.0403918094199361	0.03762	T	0.19518	0.02617	T	0.06752166	0.14628	0.06679672	0.13731	0.06752166	0.14627	0.06679672	0.13730	-0.242	0.00516	T	.	.	0.128	0.27222	B	.;.	.;.	-0.934925	0.00869	0.031	0.29610672802724564	0.01579	0.00031	0.00285	N	AEFI	0.033891	0.04103	N	-1.54228350050429	0.01580	0.06903556	-1.7230075608435	0.01039	0.04663319	7.56152405580516E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-1.643000	0.02106	-8.680000	0.00930	-1.778000	0.00656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2214:0.4862:0.2924	3.600	0.07567	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	0.1	2373.58	147	chr7	100993793	.	G	A,C	2373.58	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.552;DP=2632;ExcessHet=0.6776;FS=5.019;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=29.88;MQRankSum=1.67;QD=3.85;ReadPosRankSum=0.093;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,39,0:128:99:.:.:606,0,1886,873,2003,2876	16	0	3	1
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,31:143:99:.:.:119,0,2888	10	0	10	1
chr7	103596518	103596518	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon25:c.C3477A:p.N1159K	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	1	1499	22	0	0	22	0.00728477	.	.	265480	Norman-Roberts_syndrome|RELN-related_disorder|Childhood_epilepsy_with_centrotemporal_spikes|Familial_temporal_lobe_epilepsy_7|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|.|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.968	D	0.000	D	0.999	D	2.005	M	1.93	T	-0.742	T	0.222	T	0.34	3.887	19.76	5.81	2.763	2.137	11.424	0.100	0.0123328672847	0.0024	0.000998403	0.0017	0.0004	0.0011	0	0.0003	0.0024	0.0022	0.0017	0.0016753	259	154602	rs114684479	0.0017	0.0017	0.0017	0.0018	0.0085	0.0017	0.0017	0.0066	0.0059	0.0004	0.0011	0.0036	0	0.0002	0.0085	0.0018	0.0023	0.0018	0.0014	0.0014	0.0017	0.0012	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0014	0.0026	0	0	0.0068	0.0023	0.0024	0.0012	0.065	0.36310	T	0.006	0.70582	D	0.993	0.70673	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.999316	0.46639	D	2.135	0.59519	M	1.93	0.40749	T	-1.97	0.45587	N	0.802	0.79792	-0.7423	0.58334	T	0.222	0.58562	T	10	0.034067214	0.01602	T	0.012333	0.30806	T	0.100	0.28662	0.443	0.49975	0.582439298246	0.57915	0.7160210259459234	0.71545	0.334481402092	0.35464	0.660431861877	0.61471	T	0.12837	0.45598	T	-0.433301	0.01416	T	-0.401041	0.33264	T	0.0202194386212343	0.00722	T	0.926307	0.72903	D	0.21267676	0.43626	0.23037976	0.48138	0.19648728	0.41478	0.23178662	0.48320	-6.371	0.49283	T	0.5262139601829272	0.59774	0.571	0.67673	P	.;.;.	.;.;.	4.014742	0.59257	24.1	0.99859663217484318	0.93820	0.93134	0.57415	D	AEFI	0.738209	0.68316	D	0.675560567315045	0.78031	6.790338	0.673584547766623	0.80377	7.285509	0.845672714566861	0.24948	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	2.171000	0.42080	5.969000	0.51963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1387:0.0:0.8613:0.0	11.424	0.49241	901	0.24189	.;.;.	.	.	.	.	.	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	1678.98	33	chr7	103596518	.	G	T	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.187e+00;DP=839;ExcessHet=0.0000;FS=1.279;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=1.16;SOR=0.560	GT:AD:DP:GQ:PL	0/1:79,73:152:99:1693,0,2095	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	2/2:0,0,38:40:99:1819,1547,1459,129,131,0	5	3	3	0
chr7	139284548	139284548	T	A	exonic	UBN2	.	nonsynonymous SNV	UBN2:NM_173569:exon15:c.T3643A:p.S1215T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.924	P	0.878	P	0.000	D	1.000	D	1.7	L	1.28	T	-0.977	T	0.159	T	0.364	3.516	17.96	5.57	2.241	3.852	16.025	0.138	0.00898333495431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.456	0.12740	T	0.924	0.51285	P	0.878	0.62312	P	0.000000	0.84330	D	0.000000	0.999547	0.47497	D	0.975	0.24501	L	1.28	0.35960	T	-0.11	0.08653	N	0.353	0.39457	-0.9772	0.35638	T	0.159	0.49346	T	10	0.25371718	0.42741	T	0.008983	0.23655	T	0.138	0.37187	0.305	0.27485	0.0675242888579	0.06100	0.44560170097614327	0.44478	0.418074075645	0.42406	0.604096889496	0.53483	T	0.008636	0.07919	T	-0.0967931	0.36955	T	-0.376813	0.36094	T	0.814672231674194	0.47382	D	0.843416	0.52040	T	0.18887281	0.40404	0.21215884	0.45674	0.18887281	0.40404	0.21215884	0.45673	-3.918	0.22572	T	.	.	0.091	0.13174	B	.	.	3.575158	0.50375	22.9	0.99172722420965664	0.54441	0.93994	0.59794	D	AEFBHCI	0.436463	0.49667	N	0.435979638693737	0.63411	4.574466	0.469428743641578	0.65972	4.892099	0.99999999842	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	3.832000	0.55485	5.114000	0.47536	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.025	0.80337	814	0.42100	.	.	.	.	.	.	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	1528.98	40	chr7	139284548	.	T	A	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.581e+00;DP=819;ExcessHet=0.0000;FS=2.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-1.740e-01;SOR=0.470	GT:AD:DP:GQ:PL	0/1:44,63:107:99:1543,0,1199	20	0	1	0
chr7	141919605	141919605	C	T	exonic	OR9A4	.	nonsynonymous SNV	OR9A4:NM_001001656:exon2:c.C730T:p.H244Y,	.	.	447	1063	11	1	0	13	0.00607761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	4.035	H	8.14	T	-0.980	T	0.004	T	0.649	3.928	19.98	3.8	2.121	3.536	13.566	0.322	0.00268588202268	0.0002	0.000599042	0.0006	9.98e-05	0.0008	0	0	0.0007	0	0.0011	0.0005627	87	154602	rs202084971	0.0003	0.0003	0.0003	0.0004	0.0066	0.0003	0.0003	0.0049	0.0044	5.974e-05	0.0008	0	0	3.744e-05	0.0066	0.0003	0.0008	0.0008	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0	0	0.0007	0	0	9.411e-05	0.0034	0.0004	0.0014	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.982786	0.39934	D	4.555	0.99139	H	8.14	0.00289	T	-5.89	0.88767	D	0.619	0.63459	-0.9796	0.35094	T	0.004	0.01226	T	9	0.15119228	0.28582	T	0.002686	0.05492	T	0.322	0.64420	.	.	0.663413071915	0.66058	0.31168508354321994	0.31081	0.285961250537	0.31003	0.246184393764	0.03377	T	0.038582	0.24892	T	-0.273038	0.11420	T	-0.233799	0.51402	T	0.250876940836329	0.22912	T	0.768423	0.39759	T	0.40296006	0.60937	0.6708632	0.80687	0.40296006	0.60938	0.6708632	0.80688	-6.339	0.49031	T	.	.	0.153	0.33913	B	.;.	.;.	3.969435	0.58280	24.0	0.99752260564949746	0.84382	0.96774	0.70868	D	AEFBI	0.404187	0.47758	N	0.800263905455608	0.86123	8.785218	0.645913964793305	0.78305	6.849964	0.993059091307172	0.33067	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.8	3.8	0.42887	4.176000	0.58065	.	.	0.599000	0.40250	0.998000	0.41325	0.656000	0.25990	0.285000	0.24139	0.0:1.0:0.0:0.0	13.566	0.61285	882	0.29131	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	1468.98	38	chr7	141919605	.	C	T	1468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.158e+00;DP=812;ExcessHet=0.0000;FS=1.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-1.120e-01;SOR=0.859	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1483,0,1513	20	0	1	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	1/1:0,47,0,0:47:99:2096,142,0,2096,142,2096,2096,142,2096,2096	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	1/1:0,47,0,0:47:99:2096,142,0,2096,142,2096,2096,142,2096,2096	0	16	2	0
chr7	142875888	142875888	A	G	exonic	TRPV6	.	nonsynonymous SNV	TRPV6:NM_018646:exon7:c.T899C:p.M300T,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.047	B	0.052	B	0.000	D	1.000	D	0.295	N	-1.88	D	-0.380	T	0.387	T	0.372	3.087	16.31	4.96	1.882	7.469	13.847	0.572	0.0879955906901	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1462780609	5.574e-06	6.84e-06	5.536e-06	5.612e-06	0.0004	2.4e-06	1.73e-06	6.259e-05	2.583e-05	0	0	0	0	0	0.0004	5.452e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	0.000119	0.50451	D	0.208186	0.999965	0.52935	D	.	.	.	.	.	.	.	.	.	0.67	0.67822	-0.3801	0.72648	T	0.387	0.74217	T	10	0.65761083	0.69965	D	0.087996	0.75047	D	0.572	0.82629	.	.	0.530509239904	0.52699	0.6553139406137359	0.65467	0.416937375628	0.42323	0.513276040554	0.40680	T	0.559519	0.85230	D	0.0751957	0.61473	D	-0.129763	0.60992	T	0.925494313240051	0.58725	D	0.79572	0.43862	T	0.32888383	0.55379	0.40858814	0.65172	0.32888383	0.55379	0.40858814	0.65172	-7.696	0.58980	D	.	.	0.424	0.60894	A	.;.	.;.	3.969526	0.58280	24.0	0.9585016512158574	0.27989	0.96280	0.68370	D	AEFDBHCI	0.955165	0.97280	D	-0.0180845327047828	0.41038	2.447545	0.179436064933389	0.48721	3.084275	0.999999993826166	0.74766	0.55562	0.30534	0	0.615948	0.52940	0	0.68496	0.61776	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	7.454000	0.79769	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.847	0.62971	705	0.57330	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	382.98	33	chr7	142875888	.	A	G	382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.651;DP=750;ExcessHet=0.0000;FS=1.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.66;ReadPosRankSum=0.154;SOR=0.970	GT:AD:DP:GQ:PL	0/1:33,17:50:99:397,0,890	20	0	1	0
chr7	143388222	143388222	C	T	exonic	ZYX	.	nonsynonymous SNV	ZYX:NM_001362783:exon5:c.C934T:p.R312C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.952	D	0.175	U	0.998	N	1.95	M	0.56	T	-0.816	T	0.270	T	0.445	2.196	13.30	3.03	0.836	1.254	10.690	0.207	0.0401416408294	7.7e-05	0.000199681	0.0001	0	0	0	0	3.765e-05	0	0.0005	5.82e-05	9	154602	rs376325351	5.865e-05	5.883e-05	4.663e-05	7.083e-05	0.0002	4.851e-05	4.47e-05	0.0002	0.0001	0	2.372e-05	0	5.102e-05	0	0	5.064e-05	8.348e-05	0.0002	3.946e-05	3.938e-05	5.147e-05	2.69e-05	0.0002	1.717e-05	1.13e-05	1.172e-05	6.25e-06	2.411e-05	0	0	0	0.0002	0	0	4.414e-05	0	0.0002	0.023	0.54683	D	0.109	0.47336	T	1.0	0.90584	D	0.952	0.69102	D	0.175246	0.17256	U	0.408518	0.997999	0.22406	N	2.595	0.75868	M	0.56	0.57729	T	-1.82	0.42957	N	0.427	0.46649	-0.8156	0.54208	T	0.270	0.64193	T	10	0.06118104	0.07632	T	0.040142	0.59213	D	0.207	0.49555	.	.	0.480349945188	0.47665	0.5326760895979857	0.53192	0.550900486598	0.51946	0.449950456619	0.31936	T	0.128039	0.45545	T	-0.241277	0.15187	T	-0.281225	0.46680	T	0.173497511055859	0.18815	T	.	.	.	0.097180724	0.22903	0.081897	0.18649	0.097180724	0.22902	0.081897	0.18649	-5.831	0.44844	T	.	.	0.102	0.29477	B	.;.;.;.	.;.;.;.	4.160072	0.62465	24.5	0.99702314716037876	0.80729	0.40262	0.26397	N	AEFDBCI	0.060819	0.11585	N	-0.180785348852823	0.33935	1.93103	-0.296805331270278	0.28203	1.570634	0.999999813224218	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	3.92	3.03	0.34070	1.150000	0.31250	3.303000	0.37399	-0.268000	0.06776	0.183000	0.24101	1.000000	0.68203	0.730000	0.35099	0.0:0.8056:0.1943:0.0	10.690	0.45063	.	.	.;.;.;.	.	.	.	.	.	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	363.98	34	chr7	143388222	.	C	T	363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.203;DP=714;ExcessHet=0.0000;FS=1.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-2.000e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/1:21,16:37:99:378,0,505	20	0	1	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	0/1:70,27:97:99:.:.:400,0,1688	3	0	18	0
chr7	144363796	144363796	C	T	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.C1127T:p.A376V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	B	0.006	B	.	.	1.000	N	0	N	-0.8	T	-1.012	T	0.146	T	0.033	1.452	10.80	-0.312	-0.248	0.677	5.103	0.063	0.0182039010771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342949112	3.829e-05	5.082e-05	3.888e-05	3.771e-05	0.0002	2.987e-05	2.709e-05	8.223e-05	5.674e-05	0.0002	2.321e-05	0	2.536e-05	0	0.0002	2.961e-05	0.0001	5.925e-05	3.957e-05	8.208e-05	3.074e-05	4.893e-05	0.0001	1.557e-05	9.4e-06	3.948e-05	2.35e-05	0.0001	0	0	0	0	0	0	1.766e-05	0	0	0.214	0.19361	T	0.725	0.05256	T	0.024	0.19075	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-0.8	0.73845	T	-0.13	0.08971	N	0.035	0.01004	-1.0119	0.26322	T	0.146	0.47038	T	8	0.047355354	0.04042	T	0.018204	0.40183	T	0.063	0.18251	0.133	0.03747	0.418718287753	0.41490	0.05171677565109244	0.05113	.	.	0.260341495275	0.04931	T	0.048799	0.28122	T	-0.470122	0.00849	T	-0.591108	0.13569	T	0.00704596594427798	0.00080	T	0.517048	0.16713	T	0.021359002	0.00734	0.03588838	0.02927	0.021359002	0.00734	0.03588838	0.02927	-3.465	0.15945	T	.	.	0.092	0.13362	B	.	.	1.149927	0.15382	11.81	0.94898576261921297	0.25749	0.02780	0.07486	N	AEFI	0.060387	0.11473	N	-1.3026307795353	0.03645	0.1632025	-1.32459130455835	0.04114	0.1933937	1.11000989140249E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.6	-0.312	0.12125	0.640000	0.24394	1.226000	0.25010	-0.228000	0.07776	0.053000	0.21524	0.157000	0.23230	0.001000	0.02609	0.5402:0.3565:0.1033:0.0	5.103	0.14100	958	0.09170	Rho guanine nucleotide exchange factor 5/35, 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	0.025	356.34	38	chr7	144363796	.	C	T	356.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.246;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.70;MQRankSum=-7.600e-02;QD=5.16;ReadPosRankSum=-6.420e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:49,20:69:99:370,0,1259	19	0	1	1
chr7	144372351	144372351	G	A	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon8:c.G3898A:p.V1300I,	.	.	532	984	6	0	0	6	0.00303951	.	.	2678707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.004	B	0.009	B	0.040	N	0.568	N	0.76	N	-0.04	T	-0.951	T	0.105	T	0.093	0.041	4.226	-6.81	-1.371	-0.258	14.051	0.066	0.0125431876207	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1360049836	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	7.476e-05	4.119e-05	6.752e-05	0.0003	0	0.0014	8.845e-05	0.0001	0.0013	9.735e-05	0.0002	7.78e-05	0.0001	0.0006	5.579e-05	4.387e-05	0.0001	5.016e-05	0	0	0	0	0.0002	0.0001	0	0.0001	0	0.0006	1.0	0.06482	T	0.523	0.12037	T	0.003	0.11197	B	0.004	0.10090	B	0.039511	0.24162	N	0.393295	0.567638	0.32266	D	1.18	0.29980	L	-0.04	0.63240	T	-0.21	0.10308	N	0.055	0.02658	-0.9509	0.40816	T	0.105	0.38440	T	10	0.031908303	0.01333	T	0.012543	0.31203	T	0.066	0.19193	0.392	0.41606	0.0762999501168	0.06990	0.17734939976054376	0.17653	.	.	0.30649253726	0.11377	T	0.076497	0.35433	T	-0.225587	0.17238	T	-0.561816	0.16208	T	0.0112066081597362	0.00164	T	0.815218	0.46991	T	0.017701847	0.00296	0.036302824	0.03051	0.017701847	0.00295	0.036302824	0.03050	-4.985	0.40259	T	.	.	0.061	0.04080	B	.;.	.;.	0.093921	0.04970	1.534	0.71549851739419357	0.09667	0.06998	0.13024	N	AEFI	0.055331	0.10138	N	-1.37692283568445	0.02855	0.126691	-1.35868452357163	0.03705	0.1733548	2.08366695399891E-4	0.05948	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.89	-6.81	0.01543	-0.010000	0.12681	-0.851000	0.07178	-0.712000	0.03928	0.001000	0.13787	0.000000	0.08366	0.989000	0.64315	0.3496:0.0:0.6504:0.0	14.051	0.64261	951	0.11083	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) 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	0.025	169.36	11	chr7	144372351	.	G	A	169.36	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.44;DP=281;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.025;MQ=27.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.763;SOR=0.836	GT:AD:DP:GQ:PL	0/1:6,7:13:99:183,0,151	19	0	1	1
chr7	149892335	149892335	A	G	exonic	ACTR3C	.	nonsynonymous SNV	ACTR3C:NM_001351027:exon3:c.T173C:p.V58A	.	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113818	.	.	.	.	.	.	.	.	0.0005886	91	154602	rs200817159	0.0049	0.0049	0.0034	0.0063	0.0519	0.0048	0.0047	0.0507	0.0501	0.0003	0.0012	0.0002	5.08e-05	0.0002	0.0092	0.0020	0.0048	0.0519	0.0031	0.0031	0.0025	0.0038	0.0538	0.0029	0.0028	0.0483	0.0461	0.0008	0	0.0026	0	0	0	0.0035	0.0020	0.0049	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3735.11	118	chr7	149892335	.	A	G	3735.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.88;DP=2296;ExcessHet=0.1072;FS=4.484;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.05;MQRankSum=1.60;QD=12.45;ReadPosRankSum=-1.000e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1688,0,1974	19	0	2	0
chr7	151018803	151018803	G	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon6:c.C1535T:p.A512V,	.	.	428	1092	1	1	0	3	0.00137174	.	.	2452955	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.584	P	0.425	B	0.006	N	.	.	.	.	.	.	-0.858	T	0.117	T	0.249	0.386	6.094	1.26	0.967	3.368	6.767	0.052	0.610069739888	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs771980463	9.535e-06	9.577e-06	1.004e-05	8.997e-06	0.0005	5.12e-06	3.74e-06	8.501e-05	3.541e-05	0	0	0	0	0	0.0005	6.236e-06	6.432e-05	0	1.322e-05	1.314e-05	1.292e-05	1.354e-05	6.595e-05	2.2e-06	8.2e-07	.	.	2.421e-05	0	6.595e-05	0	0	0	0	0	0	0	.	.	.	0.081	0.41742	T	0.584	0.38894	P	0.425	0.45259	B	0.005666	0.32605	N	0.316936	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.29774	-0.8584	0.51377	T	0.117	0.41187	T	7	0.50579196	0.61810	D	0.61007	0.96593	D	.	.	0.472	0.54699	0.339793275041	0.33585	0.4052566737669202	0.40441	.	.	0.926069140434	0.98750	D	0.057241	0.30512	T	0.0295437	0.55662	T	-0.195339	0.55088	T	0.994432151317596	0.85721	D	0.509849	0.16238	T	0.07502036	0.16876	0.13212724	0.31713	0.07502036	0.16876	0.13212724	0.31712	-5.932	0.45707	T	.	.	0.110	0.24054	B	.;.	.;.	3.198007	0.43478	21.7	0.91507951313036284	0.20783	0.93357	0.58001	D	AEFDGBCIJ	0.383111	0.46474	N	-0.134623295782044	0.35891	2.067396	-0.18720284712275	0.32006	1.816709	0.999999998731446	0.74766	0.166803	0.03914	0	0.354962	0.05895	0	0.182457	0.04408	0	0.155393	0.04056	0	.	.	4.29	1.26	0.20534	3.693000	0.54467	5.757000	0.49661	0.639000	0.52094	0.995000	0.38783	1.000000	0.68203	0.034000	0.13613	0.0:0.1591:0.3636:0.4772	6.767	0.22759	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	835.98	35	chr7	151018803	.	G	A	835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.440e-01;DP=949;ExcessHet=0.0000;FS=2.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=0.599;SOR=0.988	GT:AD:DP:GQ:PL	0/1:19,24:43:99:850,0,641	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	0/1:207,68:275:99:1051,0,6975	4	0	17	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L,	.	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.005	B	0.006	B	0.001	D	1.000	D	0.895	L	-1.76	D	-0.782	T	0.290	T	0.172	1.461	10.83	3.05	1.220	0.832	9.075	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	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	0.07143	208.62	107	chr7	152235831	.	C	G	208.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.229;DP=1903;ExcessHet=0.3300;FS=7.943;InbreedingCoeff=-0.0717;MLEAC=2;MLEAF=0.048;MQ=50.91;MQRankSum=-2.006e+00;QD=0.78;ReadPosRankSum=-1.391e+00;SOR=1.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,12:83:99:0|1:152235823_T_C:111,0,2838:152235823	18	0	3	0
chr7	152248171	152248171	G	A	exonic	KMT2C	.	stopgain	KMT2C:NM_170606:exon14:c.C2263T:p.Q755X,	.	.	418	977	127	0	0	127	0.0610284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.507	N	1.000	N	.	.	.	.	.	.	.	.	.	6.978	38	2.44	0.630	0.436	1.678	.	.	.	.	0.0416	0.1069	0.0224	0.0563	0.0442	0.0281	0.0509	0.0646	0.0003458	9	26028	rs201234598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507052	0.05125	N	1.373010	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.772	0.76946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207808	0.74625	D	0.0607255	0.74294	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.010711	0.94333	34	0.99557216609082289	0.71521	0.06104	0.12080	N	AEFGBI	0.041531	0.06327	N	0.101422309534251	0.46529	2.891879	-0.202886129060462	0.31431	1.778824	0.384391544153175	0.19989	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.53	2.44	0.28875	0.459000	0.21619	2.861000	0.35203	0.676000	0.76740	0.094000	0.22667	0.999000	0.35428	0.188000	0.21541	0.1392:0.2962:0.2939:0.2707	1.678	0.02655	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.125	797.32	165	chr7	152248171	.	G	A	797.32	.	AC=5;AF=0.125;AN=40;BaseQRankSum=5.98;DP=2497;ExcessHet=1.1607;FS=41.174;InbreedingCoeff=-0.1528;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-6.374e+00;QD=0.93;ReadPosRankSum=0.070;SOR=8.357	GT:AD:DP:GQ:PL	0/1:154,15:169:60:60,0,4635	15	0	5	1
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	0/2:41,0,41:82:99:1576,1699,3402,0,1703,1578	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	0/2:41,0,41:82:99:1576,1699,3402,0,1703,1578	7	0	1	0
chr8	12138627	12138627	G	C	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.C134G:p.S45C,	.	.	601	917	1	3	0	7	0.00380228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.001	B	0.056	U	0.999	N	0.975	L	2.64	T	-1.004	T	0.028	T	0.131	-0.268	2.716	-0.721	-0.387	2.649	4.607	0.066	0.000975625068894	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199901434	1.727e-05	0.0002	1.859e-05	1.593e-05	0.0001	1.168e-05	9.82e-06	6.922e-05	5.249e-05	0	7.134e-05	0	5.853e-05	0	0	8.416e-06	0	0.0001	2.137e-05	9.005e-05	1.384e-05	2.935e-05	0.0005	5.68e-06	2.58e-06	8.754e-05	3.635e-05	0	0	0	0	0.0002	0	0	0	0	0.0005	0.157	0.23997	T	0.042	0.50226	D	0.001	0.07471	B	0.001	0.04355	B	0.055540	0.02074	U	2.990610	0.998637	0.22022	N	1.895	0.50365	L	2.64	0.12780	T	-1.95	0.45222	N	0.144	0.14480	-1.0036	0.28874	T	0.028	0.11838	T	10	0.05215311	0.05204	T	9.76E-4	0.01003	T	0.066	0.19193	.	.	0.128392430309	0.12331	0.05070450822079805	0.05012	0.359294339257	0.37621	0.531036317348	0.43181	T	0.052921	0.29299	T	-0.417426	0.01777	T	-0.727322	0.04450	T	0.0547577901069543	0.06318	T	0.493751	0.15260	T	0.07283016	0.16230	0.06926027	0.14571	0.07283016	0.16230	0.06926027	0.14571	-5.134	0.38263	T	.	.	0.080	0.07745	B	.	.	1.310339	0.17132	12.98	0.54012283306808984	0.05053	0.42314	0.26850	N	AEFBI	0.110943	0.21982	N	-1.08070947126232	0.06998	0.3238416	-1.16528096627695	0.06497	0.3129692	3.30896714387356E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.36	-0.721	0.10625	-0.231000	0.09081	-0.016000	0.12991	0.314000	0.19222	0.003000	0.16062	0.000000	0.08366	0.019000	0.11356	0.3032:0.0:0.6968:0.0	4.607	0.11770	.	.	.	.	.	.	.	.	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	0.05263	30.11	315	chr8	12138627	.	G	C	30.11	.	AC=2;AF=0.053;AN=38;DP=4893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8829;MLEAC=1;MLEAF=0.026;MQ=26.00;QD=15.05;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	18	1	0	2
chr8	17589474	17589474	G	A	exonic	PDGFRL	.	nonsynonymous SNV	PDGFRL:NM_001372073:exon2:c.G62A:p.G21D	Colorectal cancer, somatic;Hepatocellular cancer, somatic	.	26	1495	1	0	0	1	0.000334336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.986	D	0.734	P	0.001	N	0.999	D	1.7	L	1.32	T	-0.901	T	0.137	T	0.318	3.177	16.63	2.66	0.605	3.689	14.712	0.181	0.00962119828905	0.0002	0.000199681	0.0005	0	0	0	0	0.0003	0	0.0025	0.0004075	63	154602	rs369069249	0.0003	0.0003	0.0003	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0	6.72e-05	3.832e-05	0	0	0.0021	0.0002	0.0003	0.0028	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	7.231e-05	0	0.0001	0	0	0	0	0.0003	0	0.0025	0.022	0.48642	D	0.146	0.32891	T	0.986	0.61523	D	0.734	0.55432	P	0.001105	0.40219	N	0.169020	0.998983	0.45816	D	2.455	0.71248	M	1.32	0.35219	T	-1.79	0.42191	N	0.34	0.38129	-0.9010	0.47889	T	0.137	0.45260	T	10	0.019797683	0.00447	T	0.009621	0.25153	T	0.181	0.45247	.	.	0.631501200734	0.62848	0.34268019804840755	0.34181	0.0100119887689	0.00916	0.450783878565	0.32051	T	0.032387	0.22466	T	-0.433061	0.01421	T	-0.398517	0.33558	T	0.0772544720356213	0.09632	T	0.568943	0.20238	T	0.11550023	0.27255	0.22817367	0.47850	0.12585455	0.29494	0.19391355	0.42985	-5.846	0.44973	T	.	.	0.099	0.16929	B	.;.	.;.	2.603105	0.33792	19.44	0.99602843270502139	0.74338	0.96450	0.69199	D	AEFBI	0.500042	0.53347	D	0.0274298131140967	0.43105	2.610017	-0.0574138491849268	0.37170	2.172833	0.99996881870097	0.48965	0.706298	0.61202	0	0.588015	0.36545	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.52	2.66	0.30672	3.835000	0.55508	5.341000	0.48346	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.0:0.2757:0.7243:0.0	14.712	0.68859	851	0.35303	.;.	.	.	.	.	.	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	0	0	0	0	0.02381	631.98	39	chr8	17589474	.	G	A	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.646;SOR=0.880	GT:AD:DP:GQ:PL	0/1:20,23:43:99:646,0,493	20	0	1	0
chr8	27437868	27437868	A	G	exonic	PTK2B	.	nonsynonymous SNV	PTK2B:NM_173175:exon18:c.A1631G:p.N544S	.	.	.	.	.	.	.	.	.	.	.	3318240	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.011	B	0.000	D	1.000	D	1.85	L	-0.01	T	-0.820	T	0.187	T	0.074	2.466	14.21	2.4	0.815	1.386	8.427	0.129	0.0148160127162	0.0002	.	4.314e-05	0	0	0	0	7.632e-05	0	0	2.59e-05	4	154602	rs151100763	1.028e-05	1.026e-05	1.227e-05	8.271e-06	1.35e-05	6.17e-06	4.9e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.35e-05	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	0.026	0.47320	D	0.128	0.35205	T	0.0	0.02946	B	0.0	0.04355	B	0.000000	0.84330	D	0.082157	0.999918	0.51042	D	0.87	0.21467	L	-0.01	0.62762	T	-1.45	0.35597	N	0.241	0.27673	-0.8199	0.53940	T	0.187	0.53661	T	10	0.19151089	0.34841	T	0.014816	0.35183	T	0.129	0.35316	.	.	0.617736619876	0.61464	0.2656738402647586	0.26480	0.240249285893	0.26570	0.415268868208	0.27185	T	0.37666	0.74000	T	-0.27204	0.11531	T	-0.495382	0.22827	T	0.0669647575950316	0.08218	T	0.829517	0.49484	T	0.39824378	0.60611	0.17444943	0.39842	0.39824378	0.60611	0.17444943	0.39841	-8.467	0.64416	D	.	.	0.065	0.02012	B	.;.;.;.	.;.;.;.	2.081864	0.26480	17.13	0.99397681923865011	0.62656	0.76937	0.37776	D	AEFBHCI	0.266906	0.38372	N	-0.208409515046365	0.32790	1.853078	-0.0969137154687631	0.35517	2.055798	0.88040867847614	0.25606	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.16	2.4	0.28568	1.092000	0.30538	0.309000	0.17063	0.756000	0.94297	1.000000	0.71638	0.573000	0.25582	0.997000	0.79791	0.8098:0.0:0.1902:0.0	8.427	0.31892	880	0.29376	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1103.98	34	chr8	27437868	.	A	G	1103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.330;SOR=0.665	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1118,0,1072	20	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	1.01	L	-1.48	T	-0.003	T	0.531	D	0.963	3.136	16.48	5.11	1.919	9.339	13.703	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane 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	0.2778	2023.96	49	chr8	28527857	.	A	C	2023.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.128e+00;DP=3491;ExcessHet=6.1002;FS=238.297;InbreedingCoeff=-0.3837;MLEAC=11;MLEAF=0.306;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=3.10;SOR=12.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,47:178:80:.:.:80,0,2862	8	0	10	3
chr8	54459709	54459709	A	G	exonic	SOX17	.	nonsynonymous SNV	SOX17:NM_022454:exon2:c.A959G:p.Q320R,	Vesicoureteral reflux 3, Autosomal dominant	.	0	1518	2	0	2	4	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.246	B	0.036	B	.	.	1.000	N	0	N	-1.07	T	-0.987	T	0.169	T	0.156	-1.312	0.035	0.65	-0.009	-2.228	7.521	0.110	0.0193181855625	.	.	7.156e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757952976	2.867e-06	3.421e-06	1.417e-06	4.352e-06	2.783e-05	6.7e-07	4.5e-07	.	.	0	0	0	2.783e-05	0	0	9.236e-07	1.718e-05	1.246e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.598	0.05668	T	0.56	0.09113	T	0.246	0.31102	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-1.07	0.76948	T	-0.01	0.07155	N	0.196	0.21580	-0.9873	0.33273	T	0.169	0.50987	T	9	0.08896625	0.15367	T	0.019318	0.41651	T	0.110	0.31079	0.236	0.16608	0.730879104249	0.72848	0.1616537117496091	0.16086	0.878080247472	0.69652	0.702015340328	0.67436	T	0.279673	0.65235	T	-0.214783	0.18711	T	-0.423753	0.30645	T	0.0506441746871141	0.05612	T	0.326967	0.06756	T	0.033716563	0.03645	0.06686196	0.13754	0.033716563	0.03644	0.06686196	0.13754	-9.881	0.73196	D	0.2453546888869637	0.33232	0.119	0.24464	B	.	.	0.671043	0.10395	7.119	0.51279390940111014	0.04534	0.19431	0.20658	N	AEFDBHCI	0.191456	0.31865	N	-1.21901212010154	0.04724	0.2138397	-1.2783145362374	0.04724	0.2235228	0.999999990506155	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	2.1	0.65	0.16984	0.094000	0.14946	-0.377000	0.09567	0.582000	0.30178	0.018000	0.19461	0.016000	0.20520	0.072000	0.16771	0.4422:0.5577:0.0:0.0	7.521	0.26795	905	0.23532	Sox, 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	1	0	0	0	0.02381	856.98	34	chr8	54459709	.	A	G	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.321e+00;DP=813;ExcessHet=0.0000;FS=0.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-5.460e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/1:36,37:73:99:871,0,904	20	0	1	0
chr8	64581466	64581466	-	GCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.676_677insGCA:p.S234_K235insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/1:22,25,0:47:99:895,0,787,961,862,1823	14	1	5	0
chr8	64581464	64581466	GCA	-	exonic	BHLHE22	.	nonframeshift deletion	BHLHE22:NM_152414:exon1:c.674_676del:p.S234del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196	.	0.0185	0.0275	0.0401	0.0357	0.0021	0.0202	0.0070	0.0168	0.0001537	4	26028	rs779312881	0.0007	0.0059	0.0007	0.0008	0.0023	0.0007	0.0007	0.0020	0.0019	0.0014	0.0011	0.0004	0.0014	0.0013	0.0010	0.0005	0.0008	0.0023	0.0005	0.0006	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0005	0.0004	0	0.0011	0	0	0.0006	0.0040	0.0004	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/1:22,25,0:47:99:895,0,787,961,862,1823	14	1	5	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.994	D	0.000	D	0.999	D	1.1	L	.	.	-0.632	T	0.303	T	0.823	4.580	24.9	5.98	2.835	6.699	18.639	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	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	0.1316	133.13	53	chr8	66493691	.	G	C	133.13	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.170e+00;DP=1181;ExcessHet=1.1607;FS=144.686;InbreedingCoeff=-0.1900;MLEAC=5;MLEAF=0.132;MQ=59.63;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.07;SOR=10.685	GT:AD:DP:GQ:PL	0/1:42,12:54:59:59,0,827	14	0	5	2
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|1:76,8:84:14:0|1:73292775_C_T:14,0,2992:73292775	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|2:76,0,8:84:14:0|1:73292775_C_T:14,240,3256,0,3016,2992:73292775	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|2:76,0,8:84:14:0|1:73292775_C_T:14,240,3256,0,3016,2992:73292775	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|2:76,0,8:84:14:0|1:73292775_C_T:14,240,3256,0,3016,2992:73292775	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|1:75,8:83:17:0|1:73292775_C_T:17,0,2954:73292775	15	0	4	2
chr8	97644813	97644813	C	G	exonic	MTDH	.	nonsynonymous SNV	MTDH:NM_001363136:exon1:c.C307G:p.L103V	.	.	428	1070	24	0	0	24	0.0110906	.	.	2821187	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.175	N	1.000	N	-0.345	N	3.02	T	-0.967	T	0.008	T	0.107	0.350	5.899	1.11	0.326	0.286	7.943	0.047	.	0.0043	0.00738818	0.0069	0.0210	0.0073	0	0.0002	0.0052	0.0103	0.0120	0.0046442	718	154602	rs188271601	0.0032	0.0033	0.0029	0.0034	0.0247	0.0031	0.0031	0.0213	0.0201	0.0146	0.0066	0.0329	5.583e-05	0.0001	0.0247	0.0016	0.0076	0.0095	0.0076	0.0076	0.0074	0.0077	0.0151	0.0072	0.0071	0.0141	0.0138	0.0151	0.0286	0.0125	0.0308	0	0.0002	0.0308	0.0016	0.0147	0.0095	0.681	0.04575	T	0.36	0.16964	T	0.0	0.02946	B	0.001	0.04355	B	0.174788	0.03138	N	1.663720	1	0.08975	N	0.345	0.11182	N	3.02	0.08986	T	-0.09	0.08340	N	0.091	0.15609	-0.9668	0.37854	T	0.008	0.02968	T	10	0.0023199022	0.00034	T	.	.	.	0.047	0.12962	.	.	0.102598925029	0.09809	0.2996995600953209	0.29882	0.322598077182	0.34443	0.620029330254	0.55734	T	0.035859	0.23881	T	-0.678922	0.00049	T	-0.736325	0.04046	T	0.000958520930511474	0.00009	T	0.620138	0.23804	T	0.050336137	0.09078	0.054924123	0.09540	0.050336137	0.09078	0.054924123	0.09539	-2.068	0.03449	T	.	.	0.057	0.00693	B	.;.	.;.	1.173679	0.15638	11.99	0.80506263392743971	0.13235	0.01885	0.05793	N	AEFDBHCIJ	0.048066	0.08162	N	-0.964864361588228	0.09362	0.4427555	-0.871186278703871	0.12778	0.6593235	0.999999963040267	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.1	1.11	0.19640	0.205000	0.17154	0.523000	0.19181	0.549000	0.26987	0.001000	0.13787	0.050000	0.21810	0.577000	0.30821	0.0:0.5636:0.279:0.1574	7.943	0.29133	872	0.31118	.;.	.	.	.	.	.	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	313.98	30	chr8	97644813	.	C	G	313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.842e+00;DP=691;ExcessHet=0.0000;FS=5.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-1.580e-01;SOR=1.181	GT:AD:DP:GQ:PL	0/1:20,14:34:99:328,0,604	20	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560795	.	AGCCCCTGC	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-7.460e-01;DP=2088;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=1.05;SOR=1.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,45:122:99:1|0:102560764_C_G:1821,1992,5326,0,3249,3083:102560764	11	0	1	1
chr8	102560798	102560798	C	0	exonic	ODF1	.	.	.	.	.	436	601	16	0	469	485	0.0131363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2579.11	37	chr8	102560798	.	C	A,*	2579.11	.	AC=2,8;AF=0.053,0.211;AN=38;BaseQRankSum=0.124;DP=2095;ExcessHet=6.5132;FS=3.341;InbreedingCoeff=-0.2972;MLEAC=2,9;MLEAF=0.053,0.237;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=-3.220e-01;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,45:122:99:1|0:102560764_C_G:1821,1992,5326,0,3249,3083:102560764	9	0	2	2
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560804	.	AACCCGTGCAG	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-9.630e-01;DP=1919;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=0.936;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,45:122:99:1|0:102560764_C_G:1821,1992,5326,0,3249,3083:102560764	11	0	1	1
chr8	103989370	103989370	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001282881:exon14:c.G2510A:p.R837Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.997	D	0.854	P	.	.	1.000	D	0.69	N	2.8	T	-1.127	T	0.073	T	0.596	4.220	21.9	5.54	2.617	4.935	19.070	0.075	0.0114575150279	.	.	0.0001	0.0001	0	0	0	0	0	0.0010	0.00011	17	154602	rs747545747	4.449e-05	4.515e-05	2.179e-05	6.741e-05	0.0007	3.577e-05	3.259e-05	0.0005	0.0005	5.978e-05	0	0	0	0	0	2.699e-06	1.657e-05	0.0007	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.17	0.47320	T	0.453	0.31026	T	0.997	0.70673	D	0.854	0.60866	P	.	.	.	.	0.968226	0.40530	D	.	.	.	2.2	0.18570	T	-0.89	0.24676	N	0.515	0.58458	-1.1272	0.01921	T	0.073	0.29610	T	9	0.08177492	0.13423	T	0.011458	0.29107	T	0.075	0.21907	.	.	0.206203607746	0.20212	0.48742031149914705	0.48662	.	.	0.594116032124	0.52074	T	0.086079	0.42485	T	-0.353261	0.04526	T	-0.340809	0.40252	T	0.206266835331917	0.20757	T	0.959304	0.85511	D	.	.	.	.	.	.	.	.	-11.587	0.82936	D	.	.	0.141	0.40408	B	.;.;.;.;.;.	.;.;.;.;.;.	4.970377	0.82252	27.7	0.99938773260916525	0.99734	0.93335	0.57942	D	AEFDI	0.585730	0.58404	D	0.334027552477766	0.57903	3.959602	0.436400597316209	0.63847	4.626956	0.996704636009597	0.34942	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	5.451000	0.66375	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.070	0.93113	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	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	541.98	34	chr8	103989370	.	G	A	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=741;ExcessHet=0.0000;FS=1.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-9.780e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:33,24:57:99:556,0,817	20	0	1	0
chr8	117171134	117171134	G	T	exonic	SLC30A8	.	nonsynonymous SNV	SLC30A8:NM_173851:exon7:c.G930T:p.M310I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.016	B	0.042	B	0.000	D	1.000	D	1.2	L	0.58	T	-1.025	T	0.118	T	0.327	1.319	10.32	4.09	1.227	6.183	11.283	0.087	0.0141709299621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.052e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.10412	T	0.328	0.20486	T	0.016	0.17332	B	0.042	0.24114	B	0.000001	0.84330	D	0.124331	0.999971	0.53665	D	1.65	0.42232	L	0.58	0.54149	T	-0.35	0.13611	N	0.356	0.39962	-1.0251	0.22050	T	0.118	0.41516	T	10	0.27770633	0.45338	T	0.014171	0.34105	T	0.087	0.25287	0.647	0.78436	0.406531046227	0.40268	0.4914678526354992	0.49067	0.105735292603	0.11956	0.292784631252	0.09329	T	0.138742	0.47240	T	-0.0955734	0.37158	T	-0.375061	0.36297	T	0.743180215358734	0.42909	D	0.818018	0.47523	T	0.3309881	0.55551	0.16994588	0.39066	0.3309881	0.55552	0.16994588	0.39066	-4.574	0.33319	T	.	.	0.346	0.56324	A	.;.;.;.	.;.;.;.	3.356903	0.46327	22.3	0.94027560320973014	0.24139	0.95952	0.66868	D	AEFDGBI	0.874356	0.79720	D	-0.137361527194464	0.35775	2.059146	0.0170566550949521	0.40506	2.418535	0.0714599800950987	0.15568	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	4.09	0.47038	6.410000	0.73213	1.889000	0.29504	0.676000	0.76740	1.000000	0.71638	0.975000	0.29991	0.922000	0.45779	0.0904:0.0:0.9096:0.0	11.283	0.48442	919	0.19497	.;.;.;.	.	.	.	.	.	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	809.98	33	chr8	117171134	.	G	T	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.910e-01;DP=759;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.532;SOR=0.507	GT:AD:DP:GQ:PL	0/1:31,34:65:99:824,0,761	20	0	1	0
chr8	123207623	123207623	C	A	exonic	FAM83A	.	nonsynonymous SNV	FAM83A:NM_032899:exon5:c.C1240A:p.L414M,	.	.	408	1104	10	0	0	10	0.00450857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.8	P	0.365	B	0.103	N	1.000	N	0.895	L	2.89	T	-0.997	T	0.018	T	0.171	0.973	8.970	-0.618	-0.032	-0.063	7.098	0.064	.	.	.	0.0028	0	0	0	0.0208	0.0030	0	0.0032	0.0007762	120	154602	rs199759565	0.0010	0.0010	0.0010	0.0010	0.0034	0.0010	0.0009	0.0023	0.0019	9.445e-05	0.0003	4.088e-05	0	0.0039	0.0034	0.0009	0.0009	0.0023	0.0010	0.0010	0.0009	0.0011	0.0013	0.0009	0.0008	0.0011	0.0010	0.0001	0	0.0005	0	0	0.0040	0.0068	0.0013	0.0009	0.0012	0.1	0.30515	T	0.197	0.27855	T	0.8	0.44988	P	0.365	0.43339	B	0.103341	0.19752	N	0.285942	1	0.08975	N	2.3	0.65703	M	2.89	0.10196	T	-0.21	0.10308	N	0.182	0.19728	-0.9973	0.30673	T	0.018	0.07706	T	10	0.0041337013	0.00081	T	.	.	.	0.064	0.18567	.	.	0.154104182512	0.14974	0.12363116950262301	0.12289	0.643088351266	0.57858	0.490050911903	0.37445	T	0.02061	0.16197	T	-0.601661	0.00142	T	-0.639757	0.09686	T	0.0194454087793681	0.00648	T	0.453855	0.12912	T	0.06262029	0.13099	0.04878842	0.07322	0.06262029	0.13099	0.04878842	0.07321	-4.628	0.32521	T	.	.	0.109	0.20857	B	.	.	2.211912	0.28218	17.72	0.93796284340146019	0.23763	0.25141	0.22609	N	AEFDGBCI	0.085705	0.17374	N	-0.814073060736526	0.12950	0.6346727	-0.869401932574363	0.12822	0.6618036	0.999989345797475	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.06	-0.618	0.10995	-0.049000	0.11879	0.419000	0.18199	-0.365000	0.05478	0.003000	0.16062	0.964000	0.29435	0.799000	0.37691	0.0:0.4503:0.1915:0.3582	7.098	0.24500	972	0.05671	.	.	.	.	.	.	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	540.98	35	chr8	123207623	.	C	A	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=706;ExcessHet=0.0000;FS=7.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.91;ReadPosRankSum=3.03;SOR=0.663	GT:AD:DP:GQ:PL	0/1:13,21:34:99:555,0,328	20	0	1	0
chr8	124451744	124451744	G	A	exonic	TRMT12	.	nonsynonymous SNV	TRMT12:NM_017956:exon1:c.G817A:p.A273T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.000	D	1.000	D	2.17	M	1.99	T	-1.000	T	0.126	T	0.638	3.653	18.57	4.68	1.498	8.857	12.500	0.381	0.0553617855373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1249831830	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.03	0.54159	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.46	0.92336	M	1.99	0.21666	T	-3.77	0.71397	D	0.706	0.70966	-1.0002	0.29860	T	0.126	0.43112	T	10	0.7237978	0.73837	D	0.055362	0.66207	D	0.381	0.69863	0.531	0.63855	0.354648800996	0.35079	0.6594825291430205	0.65885	0.836906938384	0.67851	0.538011074066	0.44164	T	0.074487	0.34951	T	0.0532023	0.58754	T	-0.161355	0.58230	T	0.994779467582703	0.86277	D	0.945705	0.79334	D	0.6257643	0.74072	0.6679644	0.80525	0.6257643	0.74073	0.6679644	0.80526	-11.337	0.81474	D	.	.	0.313	0.54004	B	.	.	5.276126	0.88587	29.7	0.99807024351124818	0.89085	0.88807	0.48915	D	AEFGBCI	0.808589	0.73232	D	0.392836941427613	0.61035	4.299198	0.305297886078929	0.55851	3.747873	0.999999999191475	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	5.55	4.68	0.58319	8.972000	0.93001	11.707000	0.94592	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.597000	0.31313	0.0812:0.0:0.9188:0.0	12.500	0.55293	626	0.65439	SAM-dependent methyltransferase TRM5/TYW2-type|SAM-dependent methyltransferase TRM5/TYW2-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	0.02381	1707.98	37	chr8	124451744	.	G	A	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.753e+00;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=1.21;SOR=0.701	GT:AD:DP:GQ:PL	0/1:85,67:152:99:1722,0,2422	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	1/1:0,31,0:31:94:1396,94,0,1396,94,1396	0	17	0	0
chr8	143866916	143866916	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6338A:p.G2113E,	.	.	9	1508	5	0	0	5	0.00165508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.999	D	0.986	D	.	.	0.978	D	2.49	M	-0.63	T	-0.174	T	0.487	T	0.694	4.011	20.6	4.39	2.270	3.665	14.507	0.574	0.0174385144651	7.9e-05	.	4.155e-05	0	8.645e-05	0	0	4.519e-05	0	6.056e-05	3.88e-05	6	154602	rs370476982	5.682e-05	5.678e-05	4.495e-05	6.881e-05	0.0005	4.68e-05	4.304e-05	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	5.756e-05	9.94e-05	5.797e-05	5.256e-05	5.253e-05	3.854e-05	6.724e-05	8.818e-05	2.557e-05	1.83e-05	3.761e-05	2.574e-05	2.413e-05	0	6.542e-05	0	0	0	0	8.818e-05	0	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	0.977528	0.39375	D	2.63	0.76995	M	.	.	.	.	.	.	0.277	0.31365	-0.1742	0.78326	T	0.487	0.80491	T	9	0.279162	0.45488	T	0.017439	0.39139	T	.	.	.	.	0.607054019504	0.60390	0.5599932224476786	0.55926	.	.	0.515493273735	0.40993	T	0.438698	0.78426	T	0.0155995	0.53786	T	-0.0108183	0.69630	D	0.585846424102783	0.35844	D	0.553245	0.19112	T	0.38573444	0.59728	0.32700732	0.58602	0.38573444	0.59728	0.32700732	0.58601	-11.184	0.80658	D	.	.	0.958	0.87827	P	.;.	.;.	3.401085	0.47136	22.4	0.99288330465668151	0.58184	0.97710	0.76577	D	AEFDGBI	0.432974	0.49463	N	0.217877457421226	0.52066	3.383209	0.0787439638717727	0.43481	2.648978	0.999999968885196	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.39	4.39	0.52211	3.981000	0.56611	.	.	0.549000	0.26987	0.998000	0.41325	0.522000	0.25315	0.008000	0.08271	0.0:1.0:0.0:0.0	14.507	0.67342	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	0.07143	9587.66	35	chr8	143866916	.	C	T	9587.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.057;DP=1318;ExcessHet=0.0000;FS=2.673;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.66;ReadPosRankSum=-9.080e-01;SOR=0.945	GT:AD:DP:GQ:PL	1/1:0,201:201:99:6698,603,0	19	1	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	2|2:0,0,21:21:63:1|1:117366_C_CCG:945,945,945,63,63,0:117366	3	5	9	0
chr9	712444	712444	G	A	exonic	KANK1	.	nonsynonymous SNV	KANK1:NM_001354335:exon2:c.G1204A:p.V402I	Cerebral palsy, spastic quadriplegic, 2	.	0	1521	1	0	0	1	0.000328623	.	.	1869793	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.313	B	0.054	B	0.762	N	0.986	N	1.845	L	-1.94	D	-0.591	T	0.465	T	0.073	-0.590	1.356	2.91	0.340	1.263	8.231	0.127	0.0401753320226	0.0002	.	2.471e-05	9.625e-05	8.637e-05	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs138599856	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0002	1.584e-05	1.356e-05	0.0001	7.816e-05	0.0001	0.0002	0	0	3.744e-05	0	8.093e-06	4.967e-05	4.637e-05	0.0002	0.0002	0.0001	0.0003	0.0011	0.0002	0.0001	0.0007	0.0006	0.0003	0	0.0011	0	0	0	0	0	0	0.0002	0.055	0.46513	T	0.19	0.30729	T	0.313	0.32852	B	0.054	0.25828	B	0.762495	0.09612	N	0.876074	1	0.08975	N	2.255	0.64187	M	-1.94	0.84919	D	-0.5	0.15782	N	0.204	0.22614	-0.5906	0.65197	T	0.465	0.79317	T	10	0.051202506	0.04966	T	0.040175	0.59230	D	0.127	0.34888	.	.	0.126345400529	0.12197	0.07322090697520248	0.07259	.	.	0.207075476646	0.00693	T	0.11026	0.42481	T	-0.319701	0.06922	T	-0.412292	0.31961	T	0.0180965946550711	0.00532	T	0.542646	0.18460	T	0.032404486	0.03259	0.044142522	0.05652	0.032404486	0.03258	0.044142522	0.05651	-4.783	0.34392	T	0.6747301572803015	0.75025	0.087	0.14385	B	.;.;.;.	.;.;.;.	0.173187	0.05618	2.071	0.85897417389652542	0.16182	0.38405	0.25981	N	AEFBCI	0.215418	0.34078	N	-0.979082819289165	0.09051	0.4267919	-1.00564235056166	0.09661	0.4819343	0.999985636174857	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.76	2.91	0.32903	1.319000	0.33260	1.789000	0.28782	-0.966000	0.01961	0.002000	0.15269	0.006000	0.19429	0.207000	0.22098	0.1352:0.0:0.7288:0.136	8.231	0.30757	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	0	0	0.02381	1585.98	99	chr9	712444	.	G	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1816;ExcessHet=0.0000;FS=2.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=3.44;SOR=0.522	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1600,0,1738	20	0	1	0
chr9	2718572	2718572	C	T	exonic	KCNV2	.	nonsynonymous SNV	KCNV2:NM_133497:exon1:c.C833T:p.A278V,	Retinal cone dystrophy 3B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1519935	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.979	D	0.436	B	0.000	N	0.994	D	1.195	L	-4.37	D	0.678	D	0.827	D	0.209	3.686	18.73	4.16	1.144	4.030	13.748	0.483	0.270371690915	0.0003	.	9.916e-05	0.0010	9.116e-05	0	0	0	0	6.36e-05	7.12e-05	11	154602	rs140144634	2.191e-05	2.326e-05	1.908e-05	2.478e-05	0.0008	1.586e-05	1.357e-05	0.0006	0.0005	0.0008	0	0	0	0	0	0	8.285e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.539e-05	0	0	0	0	0	0	0	0.116	0.28395	T	0.145	0.33000	T	0.979	0.59044	D	0.436	0.45556	B	0.000006	0.62929	N	0.111909	0.994083	0.42155	D	1.595	0.40691	L	-4.37	0.97343	D	-1.88	0.43906	N	0.185	0.20129	0.678	0.92899	D	0.827	0.94186	D	10	0.22354516	0.39135	T	0.270372	0.89855	D	0.483	0.77271	.	.	0.955671733481	0.95519	0.7212035895137759	0.72063	0.0174109686577	0.01692	0.442906320095	0.30975	T	0.473832	0.80553	T	-0.129772	0.31533	T	-0.0422167	0.67552	D	0.151258720663098	0.17203	T	0.809419	0.45992	T	0.16134636	0.36137	0.2942816	0.55458	0.16134636	0.36136	0.2942816	0.55457	-3.98	0.23503	T	0.1110118821218279	0.09445	0.179	0.39064	B	.	.	2.394112	0.30746	18.53	0.99857190827567444	0.93639	0.95744	0.65969	D	AEFDBCI	0.618836	0.60449	D	0.0726199884126984	0.45189	2.779598	0.105276622454961	0.44818	2.756255	0.999953993237032	0.48110	0.372202	0.05800	0	0.546412	0.12157	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	5.05	4.16	0.48138	4.102000	0.57509	1.445000	0.26559	-0.840000	0.02799	0.999000	0.42656	0.810000	0.27029	0.625000	0.32026	0.0:0.9258:0.0:0.0742	13.748	0.62374	900	0.24599	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	0.02381	637.98	37	chr9	2718572	.	C	T	637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.257e+00;DP=852;ExcessHet=0.0000;FS=1.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.083;SOR=0.997	GT:AD:DP:GQ:PL	0/1:22,26:48:99:652,0,575	20	0	1	0
chr9	13168390	13168390	T	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.A3230G:p.H1077R	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.001	D	1.000	D	1.745	L	1.15	T	-0.932	T	0.172	T	0.795	3.626	18.45	4.19	0.934	7.655	12.511	0.354	0.027143734527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.54683	D	0.122	0.38305	T	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.99952	0.47407	D	1.92	0.51302	L	1.15	0.38236	T	-3.94	0.73378	D	0.727	0.77978	-0.9318	0.43874	T	0.172	0.51484	T	10	0.73585963	0.74615	D	0.027144	0.49992	D	0.354	0.67510	0.704	0.84054	0.463068873536	0.45932	0.7174230411935983	0.71685	.	.	0.808946490288	0.83330	D	0.090101	0.38513	T	0.119062	0.66279	D	-0.0667528	0.65858	T	0.984072506427765	0.75510	D	0.89491	0.65919	D	0.3044438	0.53300	0.3014344	0.56175	0.3044438	0.53300	0.3014344	0.56174	-11.379	0.82043	D	.	.	0.853	0.86433	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.947322	0.57808	23.9	0.99577508414446592	0.72802	0.97696	0.76478	D	AEFBI	0.939189	0.93944	D	0.563804521385392	0.70926	5.573924	0.539877344724308	0.70694	5.543289	0.997216321833269	0.35382	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.19	0.48645	7.605000	0.82070	7.912000	0.74078	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1397:0.8603	12.511	0.55349	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ 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	0.119	144.56	50	chr9	13168390	.	T	C	144.56	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.530e+00;DP=1567;ExcessHet=1.1607;FS=150.054;InbreedingCoeff=-0.1367;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.337;SOR=10.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,14:89:62:.:.:62,0,2612	16	0	5	0
chr9	13168391	13168391	G	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.C3229G:p.H1077D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.001	D	1.000	D	2.095	M	1.13	T	-0.663	T	0.264	T	0.899	4.537	24.5	5.36	2.656	9.420	19.459	0.509	0.0485137705426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.53172	D	0.027	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.999987	0.54805	D	2.47	0.71715	M	1.13	0.38556	T	-4.12	0.75220	D	0.892	0.93252	-0.6632	0.62135	T	0.264	0.63523	T	10	0.79950947	0.79374	D	0.048514	0.63407	D	0.509	0.78910	0.676	0.81398	0.530948259028	0.52743	0.7832599608026783	0.78276	.	.	0.803409934044	0.82484	D	0.183282	0.53557	T	0.262473	0.79757	D	0.139248	0.79496	D	0.994370400905609	0.85626	D	0.883312	0.62654	D	0.35159937	0.57191	0.477112	0.69706	0.35159937	0.57191	0.477112	0.69707	-15.211	0.96822	D	.	.	0.932	0.89634	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.419285	0.68430	25.2	0.99404669178338745	0.62981	0.99314	0.94366	D	AEFBI	0.940665	0.94292	D	0.86785734346884	0.90100	10.25299	0.852903496062704	0.93184	11.878	0.999999999878541	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.512000	0.97013	11.867000	0.98473	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.459	0.94902	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ 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	0.119	122.88	50	chr9	13168391	.	G	C	122.88	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.238e+00;DP=1541;ExcessHet=1.1607;FS=163.893;InbreedingCoeff=-0.1408;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.453;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,9:87:32:.:.:32,0,2620	16	0	5	0
chr9	14851532	14851532	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001370060:exon6:c.G931A:p.V311M	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.000	N	1.000	N	-2.24	N	3.06	T	-0.957	T	0.005	T	0.059	0.402	6.184	4.91	1.134	2.631	8.092	0.113	0.0026774027307	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs767762974	6.842e-06	6.841e-06	9.53e-06	4.126e-06	8.961e-05	3.46e-06	2.52e-06	2.985e-05	1.804e-05	8.961e-05	8.944e-05	0	0	0	0	2.698e-06	0	0	3.285e-05	3.283e-05	1.285e-05	5.38e-05	0.0002	1.261e-05	7.98e-06	5.286e-05	2.835e-05	4.826e-05	0	0.0002	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	0.000023	0.55875	N	0.231431	0.999999	0.08975	N	-2.43	0.00068	N	3.06	0.08634	T	2.12	0.00355	N	0.183	0.19861	-0.9568	0.39771	T	0.005	0.01725	T	10	0.05104646	0.04926	T	0.002677	0.05492	T	0.113	0.31778	0.474	0.55020	0.0551355673512	0.04727	0.3489141938685681	0.34805	.	.	0.255672633648	0.04388	T	0.079262	0.36088	T	-0.485007	0.00692	T	-0.758608	0.03163	T	0.18569540977478	0.19587	T	0.146285	0.01203	T	0.03357437	0.03603	0.06441317	0.12906	0.03357437	0.03603	0.06441317	0.12905	-3.677	0.18979	T	0.030380326893126988	0.00085	0.048	0.00092	B	.;.	.;.	1.691963	0.21554	15.25	0.76758642592233706	0.11597	0.26573	0.23032	N	AEFBCI	0.091577	0.18548	N	-0.725676034670977	0.15302	0.7699901	-0.388020362233176	0.25352	1.393742	0.949555765959101	0.27852	0.549168	0.22868	0	0.573888	0.26702	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	6.11	4.91	0.63897	2.606000	0.45956	0.151000	0.15292	-0.108000	0.15293	1.000000	0.71638	0.038000	0.21505	0.984000	0.60418	0.1208:0.0651:0.0:0.8141	8.092	0.29969	832	0.38914	.;.	.	.	.	.	.	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	1600.98	34	chr9	14851532	.	C	T	1600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.40;SOR=0.675	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1615,0,1760	20	0	1	0
chr9	18776869	18776869	C	G	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon19:c.C2640G:p.H880Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.024	B	0.013	B	1.000	U	1.000	D	0.16	N	0.09	T	-1.061	T	0.104	T	0.746	0.840	8.392	4.36	1.180	0.900	7.946	0.324	0.0110229371071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.158	0.31629	T	0.024	0.19075	B	0.013	0.16460	B	1.000000	0.07966	U	0.063246	0.623154	0.30762	N	0.565	0.15224	N	0.09	0.61443	T	-2.5	0.54382	D	0.425	0.46462	-1.0610	0.11508	T	0.104	0.38243	T	10	0.17902067	0.33015	T	0.011023	0.28208	T	0.324	0.64624	0.491	0.57732	0.371531589858	0.36766	0.36919469992544085	0.36833	0.0706069507822	0.07910	0.734562337399	0.72173	T	0.039675	0.25271	T	0.0752688	0.61482	D	-0.129658	0.61001	T	0.17303722332641	0.18785	T	0.684832	0.29327	T	0.22672907	0.45359	0.1779977	0.40439	0.22672907	0.45359	0.1779977	0.40438	-7.577	0.58150	D	.	.	0.203	0.42777	B	.	.	1.947636	0.24740	16.51	0.91327647596012895	0.20589	0.88224	0.48057	D	AEFDBI	0.331563	0.43125	N	-0.469790982665711	0.23074	1.236576	-0.290511059595831	0.28410	1.583886	0.998762623798499	0.37623	0.615465	0.37627	0	0.588015	0.36545	0	0.597571	0.31856	0	0.655142	0.61905	0	.	.	5.27	4.36	0.51643	0.934000	0.28510	1.112000	0.24166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.7221:0.1316:0.1463	7.946	0.29146	884	0.28482	Immunoglobulin-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	1110.98	55	chr9	18776869	.	C	G	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=1288;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=1.15;SOR=0.547	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1125,0,809	20	0	1	0
chr9	18928992	18928992	G	A	exonic	SAXO1	.	nonsynonymous SNV	SAXO1:NM_001287049:exon4:c.C290T:p.P97L	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.999	D	0.958	D	0.008	N	1.000	D	2.045	M	2.2	T	-1.036	T	0.090	T	0.381	1.650	11.47	2.26	0.312	4.118	7.330	0.257	0.00986513437411	0.0002	0.000399361	0.0004	9.61e-05	0	0	0	0.0003	0	0.0012	0.000304	47	154602	rs367834317	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0013	8.961e-05	0.0001	0	0	7.488e-05	0.0005	0.0001	0.0002	0.0016	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	7.229e-05	0	0.0001	0	0	0	0.0068	0.0002	0.0005	0.0019	0.014	0.53172	D	0.0	0.92824	D	0.999	0.77913	D	0.958	0.70027	D	0.007599	0.31308	N	0.228608	0.998174	0.81001	D	.	.	.	2.2	0.18570	T	-8.18	0.96794	D	0.431	0.47022	-1.0360	0.18544	T	0.090	0.34573	T	10	0.09552038	0.17065	T	0.009865	0.25698	T	0.257	0.56827	.	.	0.431712495121	0.42787	0.6006686718578141	0.59997	0.0089896466417	0.00812	0.432231843472	0.29513	T	0.177987	0.52847	T	-0.411197	0.01951	T	-0.403966	0.32923	T	0.739219307899475	0.42695	D	0.652935	0.26315	T	0.1907644	0.40676	0.20545392	0.44715	0.1907644	0.40676	0.20545392	0.44714	-7.205	0.55517	T	.	.	0.107	0.20663	B	.;.;.	.;.;.	3.307339	0.45428	22.1	0.99496568318498957	0.67744	0.86698	0.46034	D	AEFDBIJ	0.261804	0.37968	N	0.0646541074706584	0.44818	2.749096	-0.0910872972010625	0.35756	2.072555	0.936313292354206	0.27249	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.1	2.26	0.27418	4.468000	0.59896	7.575000	0.60810	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.1554:0.1392:0.7054:0.0	7.330	0.25749	790	0.46189	.;.;.	.	.	.	.	.	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	1286.98	35	chr9	18928992	.	G	A	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=872;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-5.140e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1301,0,1228	20	0	1	0
chr9	20414378	20414378	A	0	exonic	MLLT3	.	.	.	.	.	1	184	35	2	4	43	0.0958231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3362.48	34	chr9	20414378	.	A	G,*	3362.48	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.71;DP=856;ExcessHet=1.7912;FS=5.302;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.563;SOR=0.449	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,13,2:37:99:1|0:20414375_GCTA_G:560,0,556,346,572,1143:20414375	15	0	5	0
chr9	35906589	35906589	-	CCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCA:p.H105_P106insHHH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:2,0,0,0,0,19:21:9:.:.:664,672,738,672,738,738,672,738,738,738,672,738,738,738,738,0,66,66,66,66,9	13	1	1	0
chr9	35906589	35906589	-	CCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCA:p.H105_P106insHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:2,0,0,0,0,19:21:9:.:.:664,672,738,672,738,738,672,738,738,738,672,738,738,738,738,0,66,66,66,66,9	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H107_R108insHHPHHTPHHLHHHHHHPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:2,0,0,0,0,19:21:9:.:.:664,672,738,672,738,738,672,738,738,738,672,738,738,738,738,0,66,66,66,66,9	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCA:p.H105_P106insHHHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:2,0,0,0,0,19:21:9:.:.:664,672,738,672,738,738,672,738,738,738,672,738,738,738,738,0,66,66,66,66,9	13	1	1	0
chr9	38396909	38396909	C	-	exonic	ALDH1B1	.	frameshift deletion	ALDH1B1:NM_000692:exon2:c.1161delC:p.G388Efs*23,	.	.	343	1147	31	1	0	33	0.0141813	.	.	211394	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00439297	0.0048	0.0053	0.0054	0.0001	0.0006	0.0063	0.0110	0.0022	0.00011	17	154602	rs201408956	0.0052	0.0052	0.0052	0.0052	0.0135	0.0051	0.0050	0.0111	0.0102	0.0049	0.0059	0.0143	5.038e-05	0.0010	0.0135	0.0054	0.0065	0.0026	0.0050	0.0050	0.0054	0.0046	0.0066	0.0047	0.0046	0.0056	0.0052	0.0057	0	0.0066	0.0115	0	0.0002	0.0170	0.0050	0.0099	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2289.94	38	chr9	38396908	.	GC	G	2289.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.794;DP=948;ExcessHet=0.0000;FS=4.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=-7.500e-01;SOR=0.866	GT:AD:DP:GQ:PL	0/1:76,70:146:99:2304,0,2590	20	0	1	0
chr9	39358847	39358847	A	T	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.A1082T:p.N361I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.952	D	0.842	N	1.000	N	2.05	M	3.33	T	-1.048	T	0.046	T	0.402	1.737	11.77	1.78	1.081	0.015	5.660	0.047	0.00131501896992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.842315	0.07007	N	1.079530	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.371	0.41261	-1.0482	0.14903	T	0.046	0.19800	T	10	0.19625503	0.35509	T	0.001315	0.01834	T	0.047	0.12962	.	.	0.0762999501168	0.06990	.	.	.	.	.	.	.	.	.	.	-0.0817683	0.39428	T	-0.355231	0.38605	T	0.748608946800232	0.43208	D	0.544846	0.18617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978443	0.25134	16.65	0.98133473361449575	0.38539	0.01577	0.05141	N	AEI	0.035785	0.04663	N	-0.287851751138284	0.29616	1.643986	-0.575839017917892	0.20124	1.083	3.64069619174944E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.78	1.78	0.23918	0.069000	0.14419	-0.601000	0.08270	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	1.0:0.0:0.0:0.0	5.660	0.16942	988	0.01987	.	.	.	.	.	.	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	4201.98	35	chr9	39358847	.	A	T	4201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.507e+00;DP=1442;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.99;MQRankSum=-5.360e-01;QD=7.10;ReadPosRankSum=1.71;SOR=0.708	GT:AD:DP:GQ:PL	0/1:389,203:592:99:4216,0,10105	20	0	1	0
chr9	39359552	39359552	G	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.G1787A:p.R596Q,	.	.	575	879	68	0	0	68	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.941	P	0.689	P	0.059	N	1.000	N	2.02	M	2.89	T	-1.067	T	0.037	T	0.244	1.529	11.07	0.581	0.225	-0.772	4.077	0.060	0.000599555131866	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438348415	0.0070	0.0083	0.0052	0.0087	0.0585	0.0068	0.0068	0.0571	0.0565	0.0008	0.0028	0.0284	0.0295	0.0002	0.0241	0.0021	0.0090	0.0585	0.0047	0.0062	0.0036	0.0059	0.0638	0.0044	0.0043	0.0577	0.0554	0.0005	0	0.0034	0.0350	0.0135	0.0004	0.0069	0.0021	0.0067	0.0638	.	.	.	0.21	0.26714	T	.	.	.	.	.	.	0.058787	0.22374	N	0.321964	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.156	0.16168	-0.9832	0.34258	T	0.016	0.06425	T	10	0.004602343	0.00096	T	0.001214	0.01583	T	0.010	0.01040	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.307185	0.07998	T	-0.679026	0.07043	T	0.10759462416172	0.13172	T	0.492351	0.15167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729478	0.10985	7.648	0.99726200316220281	0.82406	0.00671	0.02892	N	AEFI	0.035374	0.04543	N	-1.07284279045767	0.07147	0.3311479	-1.16747451909524	0.06460	0.3110174	1.35875070236354E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.95	1.03	0.19161	-0.149000	0.10189	-15.955000	0.00333	-0.211000	0.08354	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.1952:0.0:0.8048:0.0	4.654	0.11995	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	0.09524	2988.92	42	chr9	39359552	.	G	A	2988.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=8.61;DP=1809;ExcessHet=0.6776;FS=6.752;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=26.03;MQRankSum=-5.570e-01;QD=3.61;ReadPosRankSum=1.29;SOR=0.345	GT:AD:DP:GQ:PL	0/1:103,40:143:99:761,0,2518	17	0	4	0
chr9	39360569	39360569	C	T	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.C2804T:p.T935I,	.	.	431	1061	30	0	0	30	0.0139405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.012	B	0.145	N	1.000	N	0.695	N	3.65	T	-0.942	T	0.011	T	0.124	-0.226	2.906	0.41	-0.277	-0.208	4.427	0.013	0.000981093643997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404309393	0.0003	0.0039	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0031	0.0002	6.733e-05	0.0007	0.0021	0	0.0012	4.415e-05	0.0003	0.0035	0.0024	0.0047	0.0021	0.0027	0.0270	0.0022	0.0021	0.0230	0.0214	0.0030	0	0.0016	0.0105	0.0029	0	0	0.0007	0.0030	0.0270	.	.	.	0.227	0.25362	T	.	.	.	.	.	.	0.145391	0.02919	N	1.773210	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.045	0.01740	-0.9505	0.40885	T	0.013	0.04985	T	10	0.006163448	0.00139	T	0.001346	0.01910	T	0.007	0.00512	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.259766	0.12927	T	-0.610912	0.11911	T	0.115202185223906	0.13954	T	0.347365	0.07649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096505	0.04991	1.549	0.45848329066527499	0.03629	0.00606	0.02697	N	AEFI	0.025690	0.01804	N	-1.13272285352989	0.06069	0.2783974	-1.2422400143797	0.05247	0.2495462	1.09969535250592E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.95	-0.146	0.12775	-0.720000	0.05072	-20.000000	0.00162	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5248:0.2889:0.1863	3.072	0.05857	988	0.01987	.	.	.	.	.	.	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	540.92	38	chr9	39360569	.	C	T	540.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.465;DP=1074;ExcessHet=0.6776;FS=4.328;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=31.18;MQRankSum=-3.041e+00;QD=1.32;ReadPosRankSum=-1.251e+00;SOR=0.365	GT:AD:DP:GQ:PL	0/1:95,15:110:78:78,0,2666	17	0	4	0
chr9	39360728	39360728	G	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.G2963A:p.S988N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.749	P	0.234	B	0.040	U	1.000	N	1.095	L	3.62	T	-0.980	T	0.012	T	0.126	-0.754	0.805	-0.393	-0.145	-2.431	3.119	0.026	0.000575503952418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.127e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	0.040038	0.01872	N	2.849610	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.053	0.02462	-0.9930	0.31827	T	0.015	0.05849	T	9	0.08408821	0.14056	T	6.9E-4	0.00418	T	0.046	0.12618	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.394743	0.02506	T	-0.804797	0.01785	T	0.421201199293137	0.29734	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171136	0.05600	2.055	0.87244648737433772	0.17089	0.00379	0.01920	N	AEFI	0.023791	0.01376	N	-0.865613977137726	0.11668	0.5643273	-1.10628838986564	0.07580	0.3692301	1.13249110805651E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.668	-0.366	0.11921	-1.856000	0.01754	-8.186000	0.01013	0.575000	0.29119	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	988	0.01987	.	.	.	.	.	.	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	1265.98	38	chr9	39360728	.	G	A	1265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=1239;ExcessHet=0.0000;FS=7.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.24;MQRankSum=-8.730e-01;QD=3.92;ReadPosRankSum=1.39;SOR=0.411	GT:AD:DP:GQ:PL	0/1:243,80:323:99:1280,0,5793	20	0	1	0
chr9	41960805	41960805	A	-	exonic	CNTNAP3B	.	frameshift deletion	CNTNAP3B:NM_001201380:exon12:c.1844delT:p.L615Rfs*10,	.	.	427	1004	91	0	0	91	0.043354	.	.	389864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375643696	0.0047	0.0087	0.0036	0.0058	0.0387	0.0046	0.0045	0.0375	0.0371	0.0006	0.0020	0.0229	0.0131	0.0002	0.0169	0.0018	0.0062	0.0387	0.0035	0.0064	0.0027	0.0043	0.0425	0.0032	0.0031	0.0376	0.0357	0.0004	0	0.0024	0.0286	0.0057	0.0002	0.0034	0.0021	0.0043	0.0425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	569.64	34	chr9	41960804	.	CA	C	569.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.180e-01;DP=947;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0764;MLEAC=3;MLEAF=0.071;MQ=34.45;MQRankSum=-1.302e+00;QD=2.02;ReadPosRankSum=-1.400e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/1:79,10:89:99:124,0,2730	18	0	3	0
chr9	42186070	42186070	C	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C368A:p.P123Q,	.	.	581	932	9	0	0	9	0.00480513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.944	P	0.548	P	0.855	N	1.000	N	1.59	L	3.77	T	-0.991	T	0.093	T	0.28	0.292	5.579	-0.749	-0.251	-0.300	3.859	0.061	0.0458461558121	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200437387	0.0049	0.0070	0.0035	0.0063	0.0474	0.0048	0.0048	0.0460	0.0455	0.0006	0.0023	0.0205	0.0338	0.0001	0.0156	0.0009	0.0057	0.0474	0.0026	0.0045	0.0023	0.0028	0.0385	0.0023	0.0022	0.0325	0.0303	0.0003	0	0.0020	0.0176	0.0110	0.0001	0.0043	0.0011	0.0022	0.0385	0.053	0.38863	T	0.021	0.58089	D	.	.	.	.	.	.	0.855382	0.07084	N	1.091620	1	0.08975	N	.	.	.	3.76	0.03892	T	-3.08	0.63323	D	0.191	0.20925	-1.0092	0.27167	T	0.032	0.13898	T	10	0.18082914	0.33286	T	0.001276	0.01733	T	.	.	0.188	0.09776	0.0611884634855	0.05136	0.10648868283993874	0.10578	.	.	0.378626286983	0.22062	T	0.156846	0.49920	T	-0.26873	0.11899	T	-0.623789	0.10890	T	0.831403613090515	0.48639	D	0.477152	0.14354	T	0.13750571	0.31836	0.24512002	0.49993	0.13750571	0.31836	0.24512002	0.49992	-4.282	0.27924	T	.	.	0.128	0.27252	B	.	.	1.046530	0.14277	10.85	0.97870535469713527	0.36526	0.00576	0.02603	N	AEFI	0.046559	0.07744	N	-0.416166356307326	0.24902	1.347937	-0.707086879867335	0.16784	0.8895221	1.09928555570762E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.86	-0.0695	0.13084	-0.885000	0.04269	-10.357000	0.00710	0.213000	0.18003	0.000000	0.06391	0.000000	0.08366	0.215000	0.22324	0.0:0.5906:0.0:0.4094	4.028	0.09180	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	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	486.37	11	chr9	42186070	.	C	A	486.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.150e-01;DP=311;ExcessHet=0.0082;FS=37.353;InbreedingCoeff=0.3489;MLEAC=4;MLEAF=0.095;MQ=24.52;MQRankSum=-1.107e+00;QD=11.31;ReadPosRankSum=-5.660e-01;SOR=6.099	GT:AD:DP:GQ:PL	0/1:10,4:14:69:69,0,247	18	1	2	0
chr9	42188750	42188750	G	C	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G3048C:p.K1016N,	.	.	596	918	8	0	0	8	0.00433839	.	.	2341760	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200281358	0.0028	0.0060	0.0023	0.0034	0.0214	0.0028	0.0027	0.0205	0.0202	0.0180	0.0014	0.0107	0.0166	2.567e-05	0.0075	0.0005	0.0046	0.0214	0.0057	0.0083	0.0057	0.0058	0.0309	0.0054	0.0052	0.0258	0.0240	0.0156	0	0.0023	0.0153	0.0088	0.0001	0.0038	0.0008	0.0026	0.0309	0.161	0.23631	T	0.025	0.56192	D	.	.	.	.	.	.	0.026105	0.01643	N	2.417350	1	0.08975	N	.	.	.	3.71	0.04046	T	-2.05	0.47008	N	0.075	0.04913	-0.9636	0.38488	T	0.015	0.06186	T	10	0.0075236857	0.00171	T	0.001652	0.02702	T	.	.	.	.	0.0297737177859	0.01360	0.06230139930510809	0.06170	.	.	0.385538309813	0.23039	T	0.006817	0.06247	T	-0.381323	0.03056	T	-0.78552	0.02291	T	0.107186853885651	0.13129	T	0.512749	0.16428	T	0.07027803	0.15466	0.045775667	0.06235	0.07027803	0.15466	0.045775667	0.06235	-4.32	0.28457	T	.	.	0.193	0.41341	B	.	.	0.321828	0.06964	3.513	0.71932992325425538	0.09798	0.01773	0.05562	N	AEFI	0.035433	0.04561	N	-0.984318721304735	0.08937	0.4210447	-1.07989936418328	0.08097	0.396617	1.17012100519053E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	0.692	0.17213	0.026000	0.13490	-0.804000	0.07362	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.1643:0.0:0.5665:0.2691	2.903	0.05361	994	0.00715	.	.	.	.	.	.	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	0.02632	33.11	33	chr9	42188750	.	G	C	33.11	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324e+00;DP=590;ExcessHet=0.0000;FS=4.129;InbreedingCoeff=0.0941;MLEAC=1;MLEAF=0.026;MQ=33.56;MQRankSum=0.112;QD=1.58;ReadPosRankSum=1.41;SOR=0.068	GT:AD:DP:GQ:PL	0/1:18,3:21:46:46,0,590	18	0	1	2
chr9	42189028	42189028	C	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3326T:p.S1109F,	.	.	511	994	16	1	0	18	0.00897308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.081	N	1.000	N	0.255	N	3.68	T	-0.994	T	0.007	T	0.263	-0.582	1.384	-2.45	-0.940	-2.468	0.324	0.036	0.0467376322815	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773788763	0.0013	0.0040	0.0009	0.0017	0.0130	0.0013	0.0012	0.0123	0.0121	0.0024	0.0004	0.0049	0.0091	5.813e-05	0.0038	0.0002	0.0015	0.0130	0.0017	0.0052	0.0014	0.0021	0.0194	0.0015	0.0015	0.0159	0.0146	0.0021	0	0.0011	0.0064	0.0022	0	0	0.0005	0.0026	0.0194	0.7	0.04175	T	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.76	0.03892	T	-1.41	0.34795	N	0.082	0.05799	.	.	.	.	.	.	.	0.061792135	0.07802	T	.	.	.	.	.	.	.	.	.	0.056679223004083415	0.05608	.	.	.	.	.	0.004938	0.04364	T	.	.	.	.	.	.	.	.	.	0.423058	0.11286	T	.	.	.	.	.	.	.	.	-4.628	0.32521	T	.	.	0.133	0.28863	B	.	.	-1.072555	0.00674	0.019	.	.	.	.	.	.	0.019005	0.00622	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.688000	0.02027	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	.	.	.	994	0.00715	.	.	.	.	.	.	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	0.09524	1552.46	206	chr9	42189028	.	C	T	1552.46	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.70;DP=3354;ExcessHet=0.0082;FS=83.153;InbreedingCoeff=0.4024;MLEAC=4;MLEAF=0.095;MQ=44.31;MQRankSum=-6.473e+00;QD=5.07;ReadPosRankSum=-1.780e-01;SOR=9.030	GT:AD:DP:GQ:PL	0/1:95,22:117:99:312,0,2592	18	1	2	0
chr9	65283490	65283491	GA	-	exonic	FOXD4L5	.	frameshift deletion	FOXD4L5:NM_001126334:exon1:c.887_888del:p.F296Sfs*91,	.	.	482	1011	29	0	0	29	0.0141394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.2313	0.0180	0.1389	0	0.6667	0.1933	0	0.4310	0.0011526	30	26028	rs562882568	0.0058	0.0066	0.0052	0.0064	0.0244	0.0057	0.0056	0.0235	0.0232	0.0007	0.0023	0.0070	2.519e-05	0.0066	0.0065	0.0048	0.0055	0.0244	0.0038	0.0043	0.0036	0.0040	0.0234	0.0035	0.0034	0.0199	0.0186	0.0006	0	0.0045	0.0052	0	0.0058	0.0137	0.0041	0.0038	0.0234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	995.94	34	chr9	65283489	.	GGA	G	995.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=767;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.15;MQRankSum=1.31;QD=12.00;ReadPosRankSum=0.751;SOR=1.148	GT:AD:DP:GQ:PL	0/1:55,28:83:99:1010,0,2225	20	0	1	0
chr9	66987228	66987228	T	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.A3270C:p.K1090N,	.	.	662	791	60	9	0	78	0.046988	.	.	2334438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201727394	0.0060	0.0096	0.0046	0.0075	0.0460	0.0059	0.0059	0.0446	0.0441	0.0036	0.0035	0.0218	0.0060	0.0005	0.0186	0.0024	0.0085	0.0460	0.0044	0.0098	0.0036	0.0052	0.0457	0.0041	0.0039	0.0398	0.0375	0.0042	0	0.0027	0.0222	0.0046	0.0001	0.0083	0.0016	0.0040	0.0457	.	.	.	0.681	0.06090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.004206866	0.00084	T	.	.	.	.	.	.	.	.	.	0.19206673839906713	0.19124	.	.	.	.	.	5.89E-4	0.00238	T	.	.	.	.	.	.	.	.	.	0.312769	0.06128	T	.	.	.	.	.	.	.	.	-4.107	0.25394	T	.	.	0.064	0.01762	B	.	.	0.388888	0.07604	4.266	.	.	.	.	.	.	0.011270	0.00096	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111000	0.15292	-5.189000	0.01814	-0.868000	0.02581	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	994	0.00715	.	.	.	.	.	.	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	3889.68	35	chr9	66987228	.	T	G	3889.68	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.26;DP=1122;ExcessHet=0.0015;FS=8.850;InbreedingCoeff=0.6042;MLEAC=7;MLEAF=0.184;MQ=47.07;MQRankSum=-7.229e+00;QD=7.75;ReadPosRankSum=1.41;SOR=1.270	GT:AD:DP:GQ:PL	0/1:242,32:274:78:78,0,6964	15	2	2	2
chr9	66989569	66989569	C	T	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G929A:p.C310Y,	.	.	470	1035	17	0	0	17	0.00814566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.661	P	0.076	B	0.023	N	1.000	N	0	N	3.77	T	-0.964	T	0.007	T	0.258	-0.617	1.256	1.31	0.484	1.115	6.671	0.061	0.00193622393645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879985392	0.0002	0.0012	0.0002	0.0002	0.0022	0.0002	0.0002	0.0018	0.0017	0.0001	4.847e-05	0.0014	0.0022	0	0.0014	4.704e-05	9.66e-05	0.0007	0.0016	0.0023	0.0014	0.0018	0.0188	0.0014	0.0013	0.0134	0.0116	0.0013	0	0.0012	0.0079	0.0034	0	0.0057	0.0010	0.0011	0.0188	.	.	.	0.282	0.21545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	0.0052527785	0.00115	T	.	.	.	.	.	.	.	.	.	0.050211009429770935	0.04964	.	.	.	.	.	8.91E-4	0.00456	T	.	.	.	.	.	.	.	.	.	0.392161	0.09760	T	.	.	.	.	.	.	.	.	-4.488	0.30731	T	.	.	0.114	0.22680	B	.	.	0.512350	0.08810	5.590	.	.	.	.	.	.	0.051649	0.09146	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723000	0.25609	-1.321000	0.05722	0.215000	0.18024	0.001000	0.13787	0.000000	0.08366	0.110000	0.18741	.	.	.	994	0.00715	.	.	.	.	.	.	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	0.09524	322.94	44	chr9	66989569	.	C	T	322.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.29;DP=981;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=23.55;MQRankSum=-3.645e+00;QD=1.24;ReadPosRankSum=2.22;SOR=0.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,7:53:35:1|0:66989561_C_G:35,0,1599:66989561	17	0	4	0
chr9	69723377	69723377	C	G	exonic	PTAR1	.	nonsynonymous SNV	PTAR1:NM_001366935:exon4:c.G659C:p.S220T	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.003	B	0.001	N	1.000	D	1.265	L	1.03	T	-1.072	T	0.079	T	0.323	-0.297	2.584	1.93	0.083	2.732	12.459	0.072	0.00459449680339	0.0008	.	0.0010	0.0001	8.664e-05	0	0.0054	0.0011	0.0011	0.0002	0.0008538	132	154602	rs199760631	0.0009	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0009	0.0008	2.988e-05	0.0002	0.0006	0	0.0054	0.0005	0.0009	0.0006	0.0002	0.0011	0.0011	0.0009	0.0013	0.0012	0.0010	0.0009	0.0010	0.0009	0.0001	0	0	0.0003	0	0.0071	0	0.0012	0	0.0004	0.388	0.10909	T	0.978	0.03324	T	0.0	0.02946	B	0.003	0.08700	B	0.001427	0.39044	N	0.336404	0.997633	0.22576	N	1.79	0.46772	L	1.03	0.40469	T	0.04	0.12283	N	0.16	0.16725	-1.0721	0.08957	T	0.079	0.31375	T	10	0.005623251	0.00125	T	0.004594	0.11346	T	0.072	0.21020	.	.	0.151262610727	0.14761	0.21127025316366796	0.21043	0.281412569002	0.30616	0.375675022602	0.21643	T	0.004695	0.04103	T	-0.456923	0.01027	T	-0.436378	0.29215	T	0.0225865830656544	0.00975	T	0.659534	0.28093	T	0.20917574	0.43177	0.07295185	0.15797	0.20917574	0.43176	0.07295185	0.15796	-6.16	0.47598	T	.	.	0.073	0.06024	B	.;.	.;.	2.293838	0.29342	18.09	0.29174978287112124	0.01534	0.93831	0.59316	D	AEFGBI	0.305726	0.41307	N	-0.336466457699889	0.27772	1.526456	-0.183150430152978	0.32154	1.826603	0.442749595066025	0.20467	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	1.93	0.24985	2.793000	0.47537	1.264000	0.25249	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.4127:0.5223:0.065	12.459	0.55057	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	0	0	0.02381	1268.98	36	chr9	69723377	.	C	G	1268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.284e+00;DP=808;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-1.465e+00;SOR=0.561	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1283,0,1396	20	0	1	0
chr9	84867350	84867350	A	G	exonic	NTRK2	.	nonsynonymous SNV	NTRK2:NM_001369534:exon12:c.A1468G:p.I490V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.997	D	0.000	D	1.000	D	1.275	L	-0.23	T	-0.512	T	0.349	T	0.405	1.117	9.554	5.89	2.254	8.962	10.620	0.309	0.0184464962829	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200871730	2.736e-06	2.736e-06	2.723e-06	2.75e-06	5.039e-05	6.4e-07	4.3e-07	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02034	T	0.776	0.12632	T	0.998	0.90584	D	0.995	0.86255	D	0.000000	0.84330	D	0.000000	0.99993	0.53665	D	1.35	0.33515	L	-0.69	0.72785	T	-0.06	0.10833	N	0.526	0.59816	-0.5121	0.68210	T	0.349	0.71305	T	10	0.28964126	0.46545	T	0.018446	0.40518	T	0.309	0.63055	0.328	0.31196	0.784957124479	0.78296	0.47912677484879196	0.47832	1.26128381631	0.82034	0.863442182541	0.91617	D	0.27188	0.64424	T	0.00695575	0.52609	T	-0.227785	0.51986	T	0.820296585559845	0.47794	D	0.827517	0.51562	T	0.15867409	0.35685	0.15201867	0.35786	0.15867409	0.35684	0.15201867	0.35785	-1.341	0.22152	T	.	.	0.133	0.66471	B	.;.;.;.;.;.	.;.;.;.;.;.	3.684425	0.52465	23.2	0.88904288835460088	0.18350	0.97985	0.78645	D	AEFDIJ	0.877742	0.80257	D	0.375931868083402	0.60120	4.197606	0.469525769686284	0.65979	4.892906	0.99999999940752	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.631631	0.49550	0	.	.	5.89	5.89	0.94758	8.591000	0.90611	8.194000	0.76796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.9288:0.0:0.0712:0.0	10.620	0.44664	870	0.31527	.;.;.;.;.;.	.	.	.	.	.	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	985.98	34	chr9	84867350	.	A	G	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.256e+00;DP=795;ExcessHet=0.0000;FS=1.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=1.17;SOR=0.743	GT:AD:DP:GQ:PL	0/1:55,45:100:99:1000,0,1396	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	0/1:190,100:307:99:417,0,3346	0	0	21	0
chr9	92188556	92188556	G	-	exonic	PRSS47	.	frameshift deletion	PRSS47:NM_001350291:exon3:c.297delC:p.S100Pfs*70,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1006489853	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.221e-05	7.217e-05	6.423e-05	8.056e-05	0.0003	3.968e-05	3.125e-05	8.87e-05	5.281e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	103.31	2	chr9	92188555	.	AG	A	103.31	.	AC=2;AF=0.056;AN=36;DP=68;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1773;MLEAC=2;MLEAF=0.056;MQ=60.00;QD=34.44;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:121,9,0	17	1	0	3
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	2/2:2,0,58,0,0,0:60:99:2228,2235,2279,130,174,0,2235,2279,174,2279,2235,2279,174,2279,2279,2235,2279,174,2279,2279,2279	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	2/2:2,0,58,0,0,0:60:99:2228,2235,2279,130,174,0,2235,2279,174,2279,2235,2279,174,2279,2279,2235,2279,174,2279,2279,2279	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	2/2:2,0,58,0,0,0:60:99:2228,2235,2279,130,174,0,2235,2279,174,2279,2235,2279,174,2279,2279,2235,2279,174,2279,2279,2279	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	2/2:2,0,58,0,0,0:60:99:2228,2235,2279,130,174,0,2235,2279,174,2279,2235,2279,174,2279,2279,2235,2279,174,2279,2279,2279	1	2	3	0
chr9	93676716	93676716	-	ACCACCCCTGCCTCC	exonic	PHF2	.	nonframeshift insertion	PHF2:NM_005392:exon21:c.2955_2956insACCACCCCTGCCTCC:p.T996_S997insTPAST,	.	.	507	986	24	5	0	34	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6675	.	0.0115	0	0	0	0	0.0076	0.02	0.0224	0.000461	12	26028	.	0.0102	0.0065	0.0089	0.0115	0.0303	0.0100	0.0099	0.0291	0.0286	0.0013	0.0043	0.0408	8.54e-05	0.0041	0.0225	0.0067	0.0121	0.0303	0.0095	0.0081	0.0076	0.0112	0.0273	0.0088	0.0085	0.0227	0.0210	0.0012	0	0.0074	0.0640	0.0008	0.0112	0.0139	0.0079	0.0133	0.0273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	585.48	95	chr9	93676716	.	T	TACCACCCCTGCCTCC	585.48	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.25;DP=1088;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0770;MLEAC=1;MLEAF=0.029;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.604;SOR=0.955	GT:AD:DP:GQ:PL	0/1:33,17:50:99:598,0,1196	16	0	1	4
chr9	96936505	96936505	C	T	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001045477:exon4:c.C923T:p.P308L	.	.	516	998	6	2	0	10	0.00498504	.	.	2340969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.003	B	0.007	B	0.830	N	1.000	N	1.905	M	2.01	T	-1.002	T	0.053	T	0.199	0.212	5.143	1.33	1.087	0.661	6.131	0.052	0.00111331206143	0.0005	.	0.0009	0	0.0029	0	0	0.0019	0	0.0003	0.000304	47	154602	rs370313314	0.0005	0.0005	0.0004	0.0005	0.0098	0.0004	0.0004	0.0074	0.0066	0.0002	0.0012	0.0004	0	0	0.0098	0.0004	0.0016	0.0002	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0006	0.0019	0.0016	0.0004	0	0.0025	0.0003	0	0	0.0068	0.0007	0.0024	0.0002	0.456	0.11770	T	0.044	0.49663	D	0.003	0.11197	B	0.007	0.12992	B	0.829504	0.06933	N	1.092300	1	0.08975	N	1.49	0.37298	L	2.01	0.21291	T	-3.25	0.65283	D	0.22	0.25499	-1.0019	0.29372	T	0.053	0.22501	T	10	0.013803124	0.00292	T	0.001113	0.01336	T	0.052	0.14661	.	.	0.0611884634855	0.05136	0.19828223971994344	0.19745	.	.	0.412240624428	0.26768	T	0.017811	0.14467	T	-0.510239	0.00500	T	-0.55614	0.16741	T	0.0110780275190484	0.00161	T	0.381062	0.09207	T	0.04195619	0.06274	0.08651128	0.20048	0.04195619	0.06274	0.08651128	0.20048	-6.276	0.48532	T	.	.	0.095	0.15115	B	.;.	.;.	1.384887	0.17971	13.47	0.68863937114679086	0.08790	0.01538	0.05055	N	AEFGCI	0.028325	0.02475	N	-0.852834385991996	0.11980	0.581259	-0.979535226023456	0.10246	0.514773	9.56451038714792E-5	0.04910	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	1.33	1.33	0.20958	0.949000	0.28707	-0.461000	0.09038	0.430000	0.20916	0.002000	0.15269	0.000000	0.08366	0.010000	0.09038	0.0:1.0:0.0:0.0	6.131	0.19426	803	0.44167	.;Nuclear Testis  protein, 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	1	0	0	0	0.02381	268.98	12	chr9	96936505	.	C	T	268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.214e+00;DP=418;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=51.71;MQRankSum=1.36;QD=11.21;ReadPosRankSum=2.36;SOR=1.100	GT:AD:DP:GQ:PL	0/1:13,11:24:99:283,0,343	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	0|2:12,0,14:26:99:0|1:97854418_AGCCGCC_A:546,582,1052,0,470,428:97854418	2	0	1	0
chr9	110435253	110435253	T	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon29:c.A4876G:p.I1626V,	.	.	433	1077	12	0	0	12	0.00554017	.	.	2840705	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.004	B	0.001	D	1.000	D	1.845	L	-0.95	T	-0.744	T	0.288	T	0.142	-0.290	2.615	4.27	0.878	4.277	11.828	0.191	0.00882891341451	0.0003	0.000399361	0.0008	0.0001	0.0024	0	0	0.0004	0.0011	0.0027	0.0006727	104	154602	rs151157223	0.0004	0.0004	0.0003	0.0005	0.0071	0.0004	0.0004	0.0054	0.0048	0.0001	0.0015	0.0004	0	0	0.0071	0.0002	0.0006	0.0023	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0005	0.0004	2.406e-05	0	0.0007	0	0	0	0.0034	0.0002	0.0005	0.0012	.	.	.	0.01	0.72224	D	0.008	0.14655	B	0.004	0.10090	B	0.000956	0.40932	D	0.272836	0.999262	0.21918	N	2.425	0.70256	M	.	.	.	.	.	.	0.394	0.43514	-0.7437	0.58262	T	0.288	0.65968	T	10	0.014389187	0.00303	T	0.008829	0.23294	T	0.191	0.46948	.	.	0.043077524339	0.03247	0.37065302493303626	0.36979	0.0895599370888	0.10117	0.381764382124	0.22507	T	0.007873	0.07247	T	-0.47024	0.00847	T	-0.45317	0.27346	T	0.0420534697939547	0.04064	T	0.581242	0.21054	T	0.04798732	0.08291	0.051949628	0.08465	0.04798732	0.08291	0.051949628	0.08464	-2.368	0.04940	T	.	.	0.071	0.04041	B	.;.	.;.	2.181266	0.27801	17.59	0.3837102778993291	0.02584	0.94314	0.60772	D	AEFBI	0.628681	0.61068	D	-0.218249766730362	0.32385	1.825823	-0.0767232625415517	0.36356	2.114654	0.10345070058072	0.16447	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.41	4.27	0.50009	4.267000	0.58676	1.270000	0.25285	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1313:0.0:0.0:0.8687	11.828	0.51552	974	0.05496	.;.	.	.	.	.	.	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	1535.98	33	chr9	110435253	.	T	C	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=864;ExcessHet=0.0000;FS=5.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-1.001e+00;SOR=0.375	GT:AD:DP:GQ:PL	0/1:90,69:159:99:1550,0,2345	20	0	1	0
chr9	110800309	110800309	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.T671C:p.V224A	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	.	0	1504	17	1	0	19	0.00627684	.	.	253279	not_specified|not_provided|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.373	B	0.396	B	0.000	D	1.000	D	1.335	L	-1.7	D	-0.068	T	0.423	T	0.864	3.586	18.26	5.07	2.027	7.997	14.301	0.805	0.0970055682466	0.0025	0.00179712	0.0028	0.0003	0.0010	0.0001	0.0021	0.0037	0.0024	0.0042	0.0026908	416	154602	rs41279055	0.0037	0.0037	0.0037	0.0036	0.0041	0.0036	0.0036	0.0040	0.0040	0.0003	0.0018	0.0016	0	0.0026	0.0040	0.0041	0.0032	0.0035	0.0027	0.0027	0.0024	0.0029	0.0046	0.0024	0.0024	0.0036	0.0035	0.0004	0	0.0032	0.0020	0	0.0027	0.0034	0.0040	0.0033	0.0046	0.002	0.72154	D	0.003	0.79402	D	0.373	0.34173	B	0.396	0.44364	B	0.000006	0.62929	D	0.063149	1	0.81001	D	1.435	0.35949	L	-1.7	0.83072	D	-3.71	0.70674	D	0.871	0.93018	-0.0676	0.80832	T	0.423	0.76763	T	10	0.057576776	0.06634	T	0.097006	0.76700	D	0.805	0.93660	.	.	0.849818709167	0.84837	0.6924260660013182	0.69182	0.756905098849	0.64057	0.796596288681	0.81446	T	0.481056	0.80978	T	0.00689684	0.52601	T	0.236986	0.85005	D	0.0360591295762086	0.02992	T	0.769823	0.39947	T	0.57534623	0.71354	0.55415136	0.74215	0.58510226	0.71887	0.64054227	0.79001	-10.283	0.75589	D	0.4229103633456847	0.51139	0.683	0.73000	P	.;.;.;.	.;.;.;.	3.738890	0.53529	23.4	0.99784028026709548	0.87043	0.98923	0.88681	D	AEFGBI	0.929285	0.91480	D	0.216838402520189	0.52015	3.378498	0.2925395247629	0.55102	3.673715	0.999999994025041	0.74766	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	7.951000	0.87297	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:0.0:0.0:1.0	14.301	0.65900	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1158.98	38	chr9	110800309	.	T	C	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.320e-01;DP=854;ExcessHet=0.0000;FS=3.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.99;ReadPosRankSum=1.36;SOR=0.477	GT:AD:DP:GQ:PL	0/1:90,55:145:99:1173,0,2255	20	0	1	0
chr9	113331956	113331956	C	T	exonic	WDR31	.	nonsynonymous SNV	WDR31:NM_001012361:exon3:c.G67A:p.V23M	.	.	.	.	.	.	.	.	.	.	.	2367759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.011	B	0.006	B	0.019	N	1.000	N	1.1	L	-0.23	T	-0.959	T	0.195	T	0.07	1.057	9.316	-1.21	-0.098	-0.481	5.643	0.039	0.0144475767063	0.0002	.	0.0002	0	8.64e-05	0.0002	0	0.0004	0	0.0001	0.0002199	34	154602	rs144785948	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	5.975e-05	6.709e-05	0.0029	5.039e-05	1.873e-05	0.0007	0.0002	0.0006	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	8.666e-05	7.257e-05	0.0001	8.876e-05	0	0	0	0.0017	0	0	0	0.0002	0.0005	0	0.104	0.50132	T	0.14	0.33554	T	0.011	0.15914	B	0.006	0.12133	B	0.019306	0.01508	N	2.161290	1	0.08975	N	0.69	0.16971	N	-0.27	0.67367	T	-0.12	0.32185	N	0.145	0.14622	-0.9588	0.39405	T	0.195	0.54855	T	10	0.014645547	0.00308	T	0.014448	0.34575	T	0.039	0.10176	.	.	0.331365685468	0.32749	0.1797937446067465	0.17898	0.114589524545	0.12926	0.291436046362	0.09131	T	0.006425	0.05852	T	-0.428901	0.01505	T	-0.579564	0.14584	T	0.00663782427309089	0.00074	T	0.478252	0.14398	T	0.03595994	0.04332	0.051299334	0.08229	0.03595994	0.04331	0.051299334	0.08228	-4.962	0.36425	T	.	.	0.094	0.14888	B	.;.;.	.;.;.	0.412542	0.07833	4.529	0.70014454588222907	0.09158	0.01244	0.04385	N	AEFDI	0.049553	0.08572	N	-1.09682081968849	0.06701	0.3092377	-1.12988492410652	0.07134	0.3458915	0.998750658460685	0.37602	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.87	-1.21	0.09033	-0.394000	0.07357	-1.048000	0.06492	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1287:0.4385:0.0:0.4328	5.643	0.16852	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	1	0	0	0	0.02381	696.98	33	chr9	113331956	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=-1.630e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:46,32:78:99:711,0,1157	20	0	1	0
chr9	114361820	114361820	C	T	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon8:c.G1651A:p.G551R	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.641	P	0.165	B	0.700	N	1.000	N	1.245	L	1.6	T	-1.050	T	0.050	T	0.097	2.059	12.84	1.26	0.132	-0.099	7.398	0.055	0.00462723713264	0.0002	.	0.0002	9.63e-05	8.637e-05	0	0	0.0001	0	0.0008	0.0001682	26	154602	rs148417221	0.0001	0.0001	0.0001	0.0002	0.0054	0.0001	0.0001	0.0039	0.0034	2.987e-05	4.472e-05	0	2.519e-05	5.666e-05	0.0054	4.676e-05	0.0004	0.0010	0.0001	0.0001	0.0002	9.414e-05	0.0006	8.171e-05	6.726e-05	0.0002	9.014e-05	7.226e-05	0	6.539e-05	0	0	0	0.0204	8.824e-05	0	0.0006	0.435	0.09401	T	0.276	0.31125	T	0.641	0.40421	P	0.165	0.35019	B	0.699689	0.06195	N	1.157220	1	0.08975	N	1.355	0.33814	L	1.6	0.28604	T	-2.2	0.49519	N	0.156	0.19459	-1.0505	0.14258	T	0.050	0.21300	T	10	0.0322344	0.01371	T	0.004627	0.11472	T	0.055	0.15663	0.108	0.01928	0.582828786496	0.57955	0.09450744218375777	0.09382	0.111268295074	0.12551	0.257472664118	0.04595	T	0.023041	0.17656	T	-0.591074	0.00165	T	-0.6998	0.05836	T	0.0279519172262206	0.01681	T	0.60064	0.22426	T	0.043137882	0.06669	0.061683755	0.11951	0.043137882	0.06669	0.061683755	0.11950	-4.11	0.27083	T	.	.	0.085	0.11941	B	.;.;.;.;.	.;.;.;.;.	0.669432	0.10379	7.104	0.97054949309366534	0.32167	0.07708	0.13711	N	AEFBCI	0.033501	0.03990	N	-0.981829052978394	0.08992	0.4237669	-1.0488745038255	0.08730	0.4306838	0.999992835559324	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.35	1.26	0.20534	-0.132000	0.10446	-1.260000	0.05881	-1.074000	0.01586	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6285:0.0:0.3715	7.398	0.26121	702	0.57624	.;.;.;.;.	.	.	.	.	.	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	1039.98	35	chr9	114361820	.	C	T	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=791;ExcessHet=0.0000;FS=8.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=-6.330e-01;SOR=1.625	GT:AD:DP:GQ:PL	0/1:44,38:82:99:1054,0,1053	20	0	1	0
chr9	114377137	114377137	C	T	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon2:c.G313A:p.D105N	.	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.82	P	0.299	B	0.980	N	1.000	N	0.895	L	2.53	T	-1.039	T	0.072	T	0.031	0.408	6.215	2.54	0.375	-0.524	10.934	0.062	0.0135703991053	7.7e-05	.	0.0002	0	8.655e-05	0	0	0.0001	0	0.0008	0.0001423	22	154602	rs147177737	0.0001	0.0001	9.529e-05	0.0002	0.0055	0.0001	0.0001	0.0040	0.0035	2.987e-05	4.472e-05	0	2.519e-05	5.617e-05	0.0055	4.317e-05	0.0004	0.0010	0.0001	0.0001	0.0001	8.057e-05	0.0006	6.507e-05	5.319e-05	0.0002	8.996e-05	2.405e-05	0	6.537e-05	0	0	0	0.0170	8.821e-05	0	0.0006	0.09	0.31987	T	0.068	0.49390	T	0.509	0.40421	P	0.043	0.30104	B	0.980322	0.07835	N	1.011730	1	0.08975	N	1.195	0.30194	L	2.53	0.35590	T	-0.97	0.27259	N	0.059	0.11054	-1.0393	0.17526	T	0.072	0.29323	T	10	0.033794045	0.01566	T	0.01357	0.33074	T	0.062	0.17934	.	.	0.645970908164	0.64304	0.06501192447645213	0.06440	0.0658946049038	0.07352	0.281279981136	0.07672	T	0.00246	0.01855	T	-0.623765	0.00104	T	-0.741576	0.03824	T	0.0287833781113967	0.01804	T	0.576042	0.20701	T	0.028271789	0.02139	0.023470098	0.00361	0.028271789	0.02139	0.023470098	0.00360	-4.726	0.34568	T	.	.	0.09	0.12607	B	.;.;.;.	.;.;.;.	0.284363	0.06609	3.104	0.98602502492293698	0.43520	0.10708	0.16137	N	AEFBCI	0.056814	0.10532	N	-0.686048915100832	0.16418	0.8363268	-0.777678415815288	0.15042	0.7891596	0.999856547950523	0.44174	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.49	2.54	0.29674	-0.916000	0.04138	-2.280000	0.03957	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.6004:0.3996:0.0	10.934	0.46447	721	0.55360	.;.;.;.	.	.	.	.	.	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	1787.98	37	chr9	114377137	.	C	T	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.385;SOR=0.707	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1802,0,1808	20	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	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	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,20:160:99:.:.:137,0,5399	5	0	12	4
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.295	M	3.67	T	-1.010	T	0.111	T	0.82	3.969	20.3	5.29	2.485	5.391	18.935	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	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	0.2632	4474.23	143	chr9	114406375	.	C	G	4474.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.573e+00;DP=3997;ExcessHet=6.1002;FS=130.641;InbreedingCoeff=-0.3565;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.30;ReadPosRankSum=0.216;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,14:159:40:.:.:40,0,5399	9	0	10	2
chr9	116698964	116698964	C	T	exonic	TRIM32	.	nonsynonymous SNV	TRIM32:NM_001099679:exon2:c.C1222T:p.R408C	Muscular dystrophy, limb-girdle, type 2H, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	106460	Sarcotubular_myopathy|Bardet-Biedl_syndrome_11|Bardet-Biedl_syndrome|not_specified|not_provided	MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878|MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.996	D	0.703	P	0.000	D	1.000	D	0.695	N	-2.68	D	0.201	D	0.634	D	0.837	3.624	18.44	5.47	2.551	4.405	14.202	0.519	0.15380590215	0.0015	0.000798722	0.0014	0.0004	0.0004	0.0002	0	0.0021	0	0.0015	0.0013842	214	154602	rs3747835	0.0017	0.0017	0.0018	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0004	0.0006	0.0058	0.0007	3.747e-05	0.0002	0.0019	0.0015	0.0013	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0009	0.0040	0.0002	0	0	0.0018	0.0024	0.0012	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.703	0.54270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-2.68	0.90391	D	-2.51	0.54546	D	0.721	0.72299	0.201	0.85918	D	0.634	0.87179	D	9	0.024597973	0.00682	T	0.153806	0.83502	D	0.519	0.79522	.	.	0.974609669287	0.97433	0.754966640632985	0.75443	0.91729132677	0.71283	0.771461009979	0.77643	T	0.553567	0.84927	D	0.00608991	0.52491	T	0.229187	0.84631	D	0.0537024562211095	0.06139	T	0.949105	0.80429	D	0.38659096	0.59789	0.26819614	0.52686	0.33348995	0.55755	0.22271717	0.47125	-3.536	0.16940	T	.	.	0.252	0.49383	B	.;.	.;.	5.217261	0.87555	29.3	0.99908777165075024	0.97875	0.97181	0.73167	D	AEFDBI	0.761866	0.69945	D	0.4590343015275	0.64716	4.732678	0.525650914663359	0.69722	5.401061	0.999999999494442	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.476000	0.59950	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1495:0.8505:0.0:0.0	14.202	0.65251	895	0.25842	.;.	.	.	.	.	.	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	1764.98	34	chr9	116698964	.	C	T	1764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=852;ExcessHet=0.0000;FS=1.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.472;SOR=0.571	GT:AD:DP:GQ:PL	0/1:90,66:156:99:1779,0,2193	20	0	1	0
chr9	117708606	117708606	A	G	exonic	TLR4	.	nonsynonymous SNV	TLR4:NM_138554:exon2:c.A137G:p.Y46C	.	.	427	1094	1	0	0	1	0.00045683	.	.	3409346	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.98	D	0.645	P	0.209	N	0.998	N	1.1	L	1.49	T	-1.058	T	0.059	T	0.547	3.385	17.42	-0.28	0.117	0.579	6.036	0.117	0.00972881148276	0.0025	0.000998403	0.0026	0.0011	0.0009	0	0.0011	0.0041	0.0011	0.0007	0.0025808	399	154602	rs78848399	0.0032	0.0032	0.0033	0.0031	0.0038	0.0031	0.0031	0.0037	0.0037	0.0006	0.0017	0	5.039e-05	0.0011	0.0010	0.0038	0.0035	0.0008	0.0022	0.0022	0.0024	0.0020	0.0038	0.0020	0.0019	0.0034	0.0033	0.0010	0	0.0010	0.0003	0	0.0007	0	0.0038	0.0014	0.0008	0.047	0.40832	D	0.115	0.37173	T	0.98	0.59353	D	0.645	0.52270	P	0.208553	0.16422	N	0.602475	0.999725	0.22124	N	2.48	0.72069	M	1.49	0.38073	T	-1.8	0.42384	N	0.26	0.41261	-1.0580	0.12260	T	0.059	0.24612	T	10	0.0075338185	0.00171	T	0.009729	0.25404	T	0.117	0.32689	.	.	0.853307037547	0.85189	0.41613344991707496	0.41529	0.378567919258	0.39267	0.378068983555	0.21981	T	0.213883	0.57533	T	-0.394072	0.02532	T	-0.338018	0.40568	T	0.0258504383559337	0.01386	T	0.927707	0.73631	D	0.5985571	0.72614	0.22560845	0.47511	0.5985571	0.72615	0.22560845	0.47510	-4.198	0.44505	T	.	.	0.068	0.08657	B	.;.;.	.;.;.	2.702470	0.35308	19.86	0.99612778265016411	0.74932	0.42813	0.26961	N	AEFDBI	0.106400	0.21230	N	-0.00181050551202143	0.41774	2.504711	-0.048482199225557	0.37557	2.200554	0.999583099376845	0.40607	0.722319	0.85440	0	0.573888	0.26702	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.51	-0.28	0.12248	0.557000	0.23159	0.767000	0.21364	0.756000	0.94297	0.798000	0.29695	0.009000	0.19889	0.998000	0.85391	0.3261:0.406:0.2679:0.0	6.036	0.18932	907	0.22727	.;.;.	.	.	.	.	.	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	2139.98	34	chr9	117708606	.	A	G	2139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=858;ExcessHet=0.0000;FS=2.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.420;SOR=0.486	GT:AD:DP:GQ:PL	0/1:84,82:166:99:2154,0,2035	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|1:266,39:305:99:0|1:122724732_T_C:795,0,10852:122724732	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|1:257,28:285:99:0|1:122724732_T_C:403,0,10647:122724732	5	0	12	4
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	1/1:0,109,0:109:99:3205,327,0,3205,327,3205	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	0/1:20,24:44:99:939,0,715	18	0	3	0
chr9	133717394	133717394	A	G	exonic	SARDH	.	nonsynonymous SNV	SARDH:NM_001134707:exon8:c.T1082C:p.I361T	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.67	P	0.596	P	0.002	N	1.000	D	1.76	L	-1.54	D	0.052	D	0.505	D	0.898	2.769	15.22	3.95	1.438	7.367	12.849	0.797	0.294216014666	7.7e-05	.	4.122e-05	9.614e-05	0	0	0	4.501e-05	0	6.056e-05	4.53e-05	7	154602	rs143784117	3.968e-05	3.967e-05	4.22e-05	3.713e-05	0.0002	3.113e-05	2.847e-05	5.849e-05	3.758e-05	0.0001	0	0	0	0	0.0002	4.407e-05	4.967e-05	0	8.539e-05	8.531e-05	0.0001	5.374e-05	0.0002	4.955e-05	3.961e-05	7.874e-05	5.576e-05	0.0002	0	6.536e-05	0	0	0	0	5.881e-05	0.0005	0	0.147	0.25355	T	0.193	0.28391	T	0.67	0.41173	P	0.596	0.50617	P	0.001735	0.38161	N	0.218517	0.999999	0.58761	D	2.255	0.64187	M	-1.54	0.81640	D	-2.9	0.60827	D	0.758	0.75834	0.052	0.83276	D	0.505	0.81334	D	10	0.8478263	0.83953	D	0.294216	0.90667	D	0.797	0.93346	.	.	0.745224696081	0.74293	0.8565785181832601	0.85620	0.522592563707	0.49982	0.530936300755	0.43167	T	0.531144	0.85666	D	0.194765	0.73403	D	0.278658	0.87055	D	0.656473577022552	0.38742	D	0.848915	0.53448	T	0.26707503	0.49779	0.27545303	0.53482	0.26707503	0.49778	0.27545303	0.53481	-15.808	0.97459	D	.	.	0.172	0.54027	B	.;.;.;.	.;.;.;.	3.927786	0.57385	23.9	0.99571547267459626	0.72440	0.96961	0.71893	D	AEFDGBI	0.933530	0.92556	D	0.26755089688207	0.54512	3.616568	0.242982106658059	0.52251	3.401218	0.999999999996424	0.74766	0.661447	0.50134	0	0.59043	0.45803	0	0.644132	0.48003	0	0.620846	0.47308	0	.	.	3.95	3.95	0.44952	7.355000	0.78690	7.650000	0.63651	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.641000	0.32449	1.0:0.0:0.0:0.0	12.849	0.57233	842	0.36989	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	1191.98	37	chr9	133717394	.	A	G	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.091;DP=811;ExcessHet=0.0000;FS=2.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=-1.710e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/1:20,45:65:99:1206,0,409	20	0	1	0
chr9	135344084	135344084	C	T	exonic	C9orf62	.	nonsynonymous SNV	C9orf62:NM_173520:exon2:c.C136T:p.R46C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.931	P	0.069	B	.	.	1.000	N	.	.	.	.	-1.034	T	0.035	T	0.175	1.007	9.111	0.252	0.080	-1.944	5.190	0.055	0.000706183589423	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1225294145	1.74e-06	2.736e-06	1.706e-06	1.775e-06	2.175e-06	2.9e-07	1.1e-07	3.6e-07	1.4e-07	0	0	0	0	0	0	2.175e-06	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	869.98	42	chr9	135344084	.	C	T	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=889;ExcessHet=0.0000;FS=2.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-2.600e-02;SOR=0.460	GT:AD:DP:GQ:PL	0/1:31,35:66:99:884,0,727	20	0	1	0
chr9	136669935	136669935	G	A	exonic	EGFL7	.	nonsynonymous SNV	EGFL7:NM_201446:exon5:c.G335A:p.R112Q	.	.	420	1098	4	0	0	4	0.00181818	.	.	700899	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.64	T	0.006	B	0.002	B	0.336	N	0.992	N	-0.805	N	0.67	T	-1.015	T	0.030	T	0.089	0.646	7.466	1.05	-0.062	0.559	9.997	0.023	.	0.0058	0.00239617	0.0072	0.0025	0.0036	0	0.0043	0.0110	0.0090	0.0027	0.003978	615	154602	rs146989870	0.0061	0.0060	0.0061	0.0060	0.0073	0.0060	0.0059	0.0072	0.0071	0.0013	0.0024	0.0003	0	0.0012	0.0015	0.0073	0.0053	0.0020	0.0042	0.0042	0.0044	0.0039	0.0070	0.0039	0.0038	0.0065	0.0063	0.0013	0	0.0052	0	0	0.0005	0	0.0070	0.0038	0.0023	0.417	0.09927	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.335909	0.14039	N	0.715267	0.991835	0.23976	N	-0.94	0.01278	N	0.67	0.52187	T	1.51	0.00728	N	0.101	0.08506	-1.0152	0.25272	T	0.030	0.13111	T	10	0.009594649	0.00216	T	.	.	.	0.023	0.04649	.	.	0.509346181843	0.50574	0.1579198059231588	0.15712	0.124499071899	0.14020	0.261715054512	0.05096	T	0.030846	0.21766	T	-0.59356	0.00159	T	-0.617422	0.11388	T	0.00253565561103508	0.00026	T	0.835117	0.50455	T	0.013258108	0.00054	0.024181234	0.00434	0.013258108	0.00054	0.024181234	0.00434	-3.233	0.12888	T	.	.	0.061	0.01161	B	.;.;.;.	.;.;.;.	1.970184	0.25030	16.61	0.91260391940968555	0.20519	0.69706	0.34294	D	AEFDGBHCI	0.082442	0.16692	N	-1.16281683682833	0.05572	0.2543673	-1.0321322912953	0.09083	0.4499482	0.999999744029333	0.74766	0.730579	0.87903	0	0.588066	0.40923	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	4.77	1.05	0.19280	0.881000	0.27811	3.205000	0.36771	-0.244000	0.07312	0.901000	0.31451	1.000000	0.68203	0.087000	0.17632	0.4257:0.0:0.5743:0.0	9.997	0.41079	952	0.10565	EGF-like domain, extracellular|EGF-like domain|EGF-like domain;EGF-like domain, extracellular|EGF-like domain|EGF-like domain;EGF-like domain, extracellular|EGF-like domain|EGF-like domain;EGF-like domain, extracellular|EGF-like 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	0	0	0.02381	216.98	35	chr9	136669935	.	G	A	216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.505;DP=706;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=-2.097e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/1:16,9:25:99:231,0,442	20	0	1	0
chr9	137169418	137169418	C	G	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.G526C:p.D176H,	.	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.948	P	0.901	P	0.002	N	1.000	N	-0.15	N	0.46	T	-1.024	T	0.128	T	0.282	3.214	16.77	3.23	0.714	0.024	6.319	0.118	0.580358652543	.	0.000998403	0.0028	0	0.0023	0.0071	0	0.0002	0	0.0044	0.0003234	50	154602	rs563732337	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0030	0.0028	0	5.809e-05	0	0.0004	0	0.0016	5.777e-05	0.0003	0.0033	0.0002	0.0002	3.858e-05	0.0003	0.0033	0.0001	8.72e-05	0.0021	0.0017	0	0	0	0	0.0008	0	0	4.413e-05	0	0.0033	0.004	0.65419	D	0.168	0.30631	T	0.948	0.53620	P	0.901	0.63994	P	0.001747	0.38106	N	0.114825	1	0.08975	N	-0.02	0.05091	N	0.46	0.56281	T	-3.59	0.69236	D	0.285	0.32259	-1.0237	0.22508	T	0.128	0.43625	T	10	0.0070390403	0.00160	T	0.580359	0.96237	D	0.118	0.32913	0.261	0.20473	0.340510301474	0.33666	0.5399067227243248	0.53915	1.64548930497	0.89442	0.921778619289	0.98456	D	0.063147	0.32101	T	-0.449385	0.01139	T	-0.421338	0.30922	T	0.109117556538985	0.13332	T	0.738226	0.35599	T	0.3814089	0.59418	0.3889117	0.63724	0.3814089	0.59418	0.3889117	0.63723	-5.531	0.42157	T	.	.	0.405	0.59832	A	.	.	4.024500	0.59468	24.1	0.99123202392481891	0.53037	0.04624	0.10287	N	ALL	0.135305	0.25560	N	-0.288043707976386	0.29610	1.643498	-0.382218038222062	0.25527	1.404369	0.99999999998509	0.74766	0.443343	0.08805	1	0.560097	0.17682	1	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.14	3.23	0.36150	0.171000	0.16497	2.463000	0.32863	0.503000	0.22915	0.002000	0.15269	0.996000	0.32793	0.835000	0.39381	0.0:0.7667:0.0:0.2333	6.319	0.20413	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	383.98	33	chr9	137169418	.	C	G	383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.050e-01;DP=764;ExcessHet=0.0000;FS=6.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.68;ReadPosRankSum=-6.100e-02;SOR=1.008	GT:AD:DP:GQ:PL	0/1:32,18:50:99:398,0,893	20	0	1	0
chr9	137187596	137187596	G	C	exonic	ANAPC2	.	nonsynonymous SNV	ANAPC2:NM_013366:exon2:c.C625G:p.R209G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.978	D	0.969	D	0.004	N	0.538	D	0	N	-1.15	T	-0.431	T	0.342	T	0.624	0.486	6.637	3.7	2.365	1.282	11.245	0.345	0.050189862333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.07235	T	0.379	0.16037	T	0.962	0.55554	D	0.931	0.66596	D	0.004167	0.34034	N	0.206543	0.538466	0.32034	D	0	0.06538	N	-1.15	0.77964	T	-0.62	0.18248	N	0.353	0.39457	-0.4307	0.71044	T	0.342	0.70754	T	10	0.32703018	0.49992	T	0.05019	0.64138	D	0.345	0.66676	0.394	0.41935	0.881854005816	0.88070	0.4884437196963223	0.48764	0.800854512451	0.66244	0.789007306099	0.80291	T	0.350913	0.71856	T	0.0357222	0.56481	T	-0.186464	0.55921	T	0.456344574689865	0.31031	T	0.782522	0.41827	T	0.26511195	0.49580	0.09993523	0.23879	0.26511195	0.49580	0.09993523	0.23878	-3.912	0.22482	T	.	.	0.325	0.54883	B	.	.	3.382504	0.46789	22.4	0.86382796126629813	0.16499	0.75137	0.36776	D	AEFDGBI	0.294684	0.40499	N	0.181480159663104	0.50311	3.222232	0.202691398472655	0.49995	3.196386	0.999999243737983	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.7	3.7	0.41607	0.909000	0.28180	11.060000	0.85425	0.676000	0.76740	0.857000	0.30561	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	11.245	0.48221	994	0.00715	.	.	.	.	.	.	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	1404.98	35	chr9	137187596	.	G	C	1404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=846;ExcessHet=0.0000;FS=2.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-1.472e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/1:82,58:140:99:1419,0,2015	20	0	1	0
chr9	137306981	137306981	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon22:c.C2600T:p.P867L,	.	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.004	B	.	.	1.000	N	0.69	N	0.63	T	-1.055	T	0.084	T	0.105	1.236	10.02	-6.17	-1.915	-2.324	2.096	0.035	.	0.0038	0.00778754	0.0068	0.0006	0.0033	0.0001	0.0021	0.0059	0.0094	0.0271	0.0058343	902	154602	rs118011827	0.0049	0.0049	0.0044	0.0055	0.0177	0.0048	0.0048	0.0170	0.0167	0.0006	0.0036	0.0045	5.061e-05	0.0017	0.0132	0.0044	0.0056	0.0177	0.0037	0.0037	0.0038	0.0036	0.0180	0.0034	0.0033	0.0150	0.0138	0.0011	0	0.0041	0.0063	0	0.0015	0	0.0046	0.0057	0.0180	0.289	0.15047	T	0.089	0.40426	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.63	0.53088	T	-0.84	0.22944	N	0.064	0.03613	-1.0552	0.12987	T	0.084	0.32814	T	9	0.002650559	0.00041	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.13143889159918148	0.13068	0.0537485315339	0.05938	0.293423980474	0.09424	T	0.004025	0.03433	T	-0.625299	0.00102	T	-0.656038	0.08536	T	0.000714748461818774	0.00006	T	0.49875	0.15541	T	0.025869284	0.01574	0.032090463	0.01891	0.025869284	0.01573	0.032090463	0.01891	-4.971	0.36523	T	.	.	0.080	0.07745	B	.	.	-0.270247	0.02750	0.368	0.72097194850595092	0.09855	0.00862	0.03425	N	AEFBI	0.048889	0.08390	N	-1.73501616686814	0.00725	0.03129348	-1.84216125642774	0.00633	0.02814956	0.999996336862171	0.74766	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.505526	0.08623	0	.	.	3.79	-6.17	0.01912	-1.162000	0.03252	-3.500000	0.02739	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.226:0.3855:0.2666	2.096	0.03445	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	0	0	0.04762	2266.11	37	chr9	137306981	.	G	A	2266.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.211e+00;DP=830;ExcessHet=0.1072;FS=0.605;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=1.04;SOR=0.637	GT:AD:DP:GQ:PL	0/1:31,43:74:99:1082,0,781	19	0	2	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	2/2:0,0,50:50:99:.:.:2186,2186,2186,151,151,0	7	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:68,28:96:99:134,0,1190	5	0	16	0
chr10	836416	836416	G	T	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon8:c.C737A:p.S246Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.869	P	0.000	D	1.000	D	2.175	M	1.17	T	-0.742	T	0.220	T	0.533	2.954	15.85	5.96	2.832	5.099	20.422	0.276	0.026229574271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.992	0.64738	D	0.869	0.61749	P	0.000089	0.51296	D	0.235594	0.99997	0.53665	D	1.795	0.47270	L	1.17	0.37910	T	-4.06	0.74582	D	0.373	0.41459	-0.7419	0.58355	T	0.220	0.58319	T	10	0.36249754	0.52844	T	0.02623	0.49152	D	0.276	0.59253	0.348	0.34436	0.289831133145	0.28582	0.6335953942830321	0.63293	2.09917820347	0.94799	0.619366168976	0.55640	T	0.372925	0.73702	T	-0.0177611	0.49171	T	-0.263289	0.48495	T	0.995297014713287	0.87169	D	0.958704	0.84427	D	0.417875	0.61950	0.5356424	0.73167	0.417875	0.61951	0.5356424	0.73167	-11.582	0.82755	D	.	.	0.389	0.62202	A	.;.	.;.	4.312148	0.65933	24.9	0.99549797110929206	0.71086	0.99275	0.93809	D	AEFBI	0.637656	0.61636	D	0.678852924184455	0.78246	6.833197	0.650091866391282	0.78616	6.912506	0.99972368530024	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	5.257000	0.65294	9.938000	0.82634	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.117000	0.19042	0.0:0.0:1.0:0.0	20.422	0.99051	759	0.50631	LARP5, RNA recognition motif;LARP5, RNA recognition motif	.	.	.	.	.	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	1106.98	35	chr10	836416	.	G	T	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.491e+00;DP=794;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=-1.866e+00;SOR=0.597	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1121,0,1370	20	0	1	0
chr10	1103821	1103821	G	A	exonic	WDR37	.	nonsynonymous SNV	WDR37:NM_014023:exon10:c.G946A:p.V316I,	.	.	.	.	.	.	.	.	.	.	.	2399744	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.999	D	0.995	D	0.000	D	1.000	D	-0.115	N	0.15	T	-0.798	T	0.202	T	0.401	2.660	14.85	5.72	2.694	7.503	19.883	0.259	0.0174932790696	.	.	8.444e-06	0	0	0	0	1.534e-05	0	0	1.29e-05	2	154602	rs567216295	2.6e-05	2.599e-05	2.45e-05	2.75e-05	7.557e-05	1.932e-05	1.692e-05	2.116e-05	1.862e-05	0	0	3.826e-05	7.557e-05	0	0	2.968e-05	1.656e-05	0	5.256e-05	5.253e-05	3.854e-05	6.724e-05	0.0001	2.557e-05	1.83e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.265	0.16305	T	0.361	0.16914	T	0.951	0.53992	P	0.32	0.41729	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.09	0.27330	L	0.15	0.60734	T	-0.06	0.07882	N	0.423	0.46274	-0.7984	0.55238	T	0.202	0.55947	T	10	0.31370127	0.48819	T	0.017493	0.39209	T	0.259	0.57090	0.623	0.75803	0.176862962021	0.17281	0.17193898065646135	0.17113	0.669303631781	0.59337	0.726051092148	0.70929	T	0.042676	0.26258	T	-0.17225	0.24895	T	-0.2595	0.48873	T	0.225308089998112	0.21726	T	0.950305	0.82493	D	0.067631386	0.14664	0.0893657	0.20894	0.067631386	0.14664	0.0893657	0.20893	-4.354	0.28927	T	0.08334842986594895	0.04492	0.079	0.25527	B	.;.;.	.;.;.	2.706108	0.35358	19.88	0.99373286737905908	0.61541	0.98255	0.80978	D	AEFDBI	0.767003	0.70300	D	0.201807255174749	0.51287	3.311125	0.265368415511542	0.53530	3.521336	0.999999999912492	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.72	5.72	0.89380	7.626000	0.82344	7.552000	0.60294	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.173000	0.21076	0.0:0.0:1.0:0.0	19.883	0.96905	687	0.59234	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	0	0	0	0	0.02381	1058.98	34	chr10	1103821	.	G	A	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-01;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=0.763;SOR=0.668	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1073,0,1602	20	0	1	0
chr10	3099311	3099311	G	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323067:exon3:c.G142A:p.A48T	.	.	439	1080	2	1	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.188	B	0.067	B	0.726	N	1.000	D	-0.29	N	-1.32	T	-0.675	T	0.219	T	0.216	1.976	12.56	4.65	1.317	5.008	16.368	0.282	0.041100556954	0.0002	.	0.0001	0	0	0	0	0.0002	0	6.056e-05	0.0001035	16	154602	rs143287169	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.567e-05	0.0001	0.0001	8.962e-05	4.472e-05	0	0.0001	0	0	0.0001	0.0001	3.478e-05	0.0001	0.0002	0.0001	0.0001	0.0002	9.74e-05	8.255e-05	9.048e-05	7.012e-05	0.0001	0	0.0002	0	0.0002	0	0	0.0002	0.0005	0.0002	0.123	0.33418	T	0.412	0.34959	T	0.188	0.29318	B	0.067	0.27542	B	0.726351	0.06343	N	1.126440	0.999846	0.20887	N	.	.	.	-1.32	0.79761	T	-0.16	0.11913	N	0.32	0.36043	-0.6749	0.61607	T	0.219	0.58150	T	10	0.28831026	0.46413	T	0.041101	0.59740	D	0.282	0.59981	.	.	0.828821459956	0.82720	0.5304562676976728	0.52969	0.190035660652	0.21322	0.271592199802	0.06350	T	0.229979	0.59593	T	-0.251741	0.13885	T	-0.293409	0.45418	T	0.0679797753691673	0.08366	T	0.937806	0.76886	D	0.30244344	0.53123	0.12610473	0.30376	0.30244344	0.53123	0.12610473	0.30376	-3.058	0.10820	T	.	.	0.066	0.02118	B	.;.;.	.;.;.	2.272477	0.29051	18.00	0.98847148522845341	0.47220	0.92202	0.55173	D	AEFDBHCIJ	0.460408	0.51060	N	-0.329758056661201	0.28023	1.542241	-0.240059820402473	0.30115	1.692886	0.999999999957872	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.57	4.65	0.57626	5.078000	0.64255	2.102000	0.30609	0.676000	0.76740	1.000000	0.71638	0.021000	0.20819	0.008000	0.08271	0.0:0.132:0.868:0.0	16.368	0.83177	988	0.01987	Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase 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	891.98	34	chr10	3099311	.	G	A	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=798;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-6.090e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:60,39:99:99:906,0,1451	20	0	1	0
chr10	3119938	3119938	A	G	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323074:exon11:c.A929G:p.E310G	.	.	428	1090	4	0	0	4	0.0018315	.	.	701318	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.033	B	0.005	N	1.000	D	0.98	L	-1.15	T	-0.658	T	0.242	T	0.339	3.047	16.17	4.54	1.048	3.724	13.103	0.333	0.0322009805631	0.0058	0.00259585	0.0053	0.0012	0.0008	0	0.0036	0.0079	0.0022	0.0043	0.0052845	817	154602	rs41288721	0.0071	0.0071	0.0070	0.0071	0.0083	0.0070	0.0069	0.0082	0.0081	0.0009	0.0014	0.0039	0	0.0035	0.0012	0.0083	0.0062	0.0037	0.0048	0.0048	0.0050	0.0045	0.0076	0.0045	0.0044	0.0071	0.0068	0.0011	0.0428	0.0035	0.0049	0	0.0032	0	0.0076	0.0033	0.0033	0.009	0.65419	D	0.04	0.50809	D	0.003	0.11197	B	0.02	0.19048	B	0.004544	0.33627	N	0.340065	0.811297	0.34645	D	1.95	0.52479	M	-1.15	0.77964	T	-3.69	0.70432	D	0.397	0.44187	-0.6577	0.62377	T	0.242	0.61083	T	10	0.008535087	0.00193	T	0.032201	0.54088	D	0.333	0.65522	.	.	0.672392681923	0.66962	0.7627020923406801	0.76218	0.269737973459	0.29498	0.287244170904	0.08522	T	0.697751	0.91269	D	-0.308868	0.07848	T	-0.211317	0.53569	T	0.0274130518947856	0.01603	T	0.954805	0.82790	D	0.56875163	0.70992	0.39064917	0.63855	0.56875163	0.70993	0.39064917	0.63855	-8.673	0.68453	D	.	.	0.088	0.17402	B	.;.	.;.	3.846597	0.55700	23.6	0.99809054772278494	0.89353	0.86471	0.45758	D	AEFBCI	0.453575	0.50665	N	-0.140759923701473	0.35630	2.048945	0.0306633717489943	0.41145	2.467178	0.999449958782421	0.39736	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.7	4.54	0.55220	3.766000	0.54991	5.888000	0.50725	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8661:0.1339:0.0:0.0	13.103	0.58646	982	0.03397	Phosphofructokinase 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	1070.98	45	chr10	3119938	.	A	G	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.930e-01;DP=908;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=1.07;SOR=0.786	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1085,0,1401	20	0	1	0
chr10	7248643	7248643	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon8:c.G877A:p.A293T	.	.	430	1049	41	2	0	45	0.0209986	.	.	724060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.993	D	0.889	P	0.263	N	1.000	D	2.015	M	0.92	T	-0.818	T	0.206	T	0.694	2.762	15.20	5.4	2.519	3.977	19.184	0.237	.	0.0035	0.00459265	0.0053	0.0016	0.0017	0	0.0006	0.0048	0.0078	0.0171	0.0049547	766	154602	rs117741182	0.0036	0.0036	0.0031	0.0041	0.0174	0.0035	0.0035	0.0166	0.0163	0.0008	0.0018	0.0051	2.519e-05	0.0006	0.0168	0.0028	0.0043	0.0174	0.0027	0.0027	0.0025	0.0028	0.0164	0.0025	0.0024	0.0135	0.0124	0.0006	0.0011	0.0020	0.0058	0	0.0005	0.0136	0.0034	0.0038	0.0164	0.421	0.09806	T	0.429	0.13752	T	0.993	0.65571	D	0.889	0.63100	P	0.263242	0.03723	N	1.458410	1	0.81001	D	2.25	0.63811	M	0.92	0.44461	T	-0.81	0.22294	N	0.62	0.63544	-0.8181	0.54053	T	0.206	0.56512	T	10	0.0093427	0.00211	T	.	.	.	0.237	0.54074	.	.	0.193917141947	0.19028	0.3119682848669579	0.31109	0.580245724104	0.53879	0.460799157619	0.33420	T	0.012519	0.10987	T	-0.328422	0.06231	T	-0.230906	0.51684	T	0.0225845717062435	0.00975	T	0.778122	0.41194	T	0.1463249	0.33502	0.096215524	0.22852	0.1463249	0.33502	0.096215524	0.22851	-5.141	0.38336	T	.	.	0.086	0.10691	B	.;.	.;.	3.395496	0.47037	22.4	0.992965443619932	0.58469	0.85763	0.44932	D	AEFDBCI	0.658062	0.62947	D	0.506294479907282	0.67460	5.084768	0.497719078246809	0.67837	5.13802	0.999999940766446	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	4.043000	0.57065	4.877000	0.45627	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:1.0:0.0:0.0	19.184	0.93622	944	0.12746	.;.	.	.	.	.	.	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	2667.11	35	chr10	7248643	.	C	T	2667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=905;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-9.900e-02;SOR=0.685	GT:AD:DP:GQ:PL	0/1:71,47:118:99:1107,0,1724	19	0	2	0
chr10	12029121	12029121	G	A	exonic	UPF2	.	nonsynonymous SNV	UPF2:NM_015542:exon3:c.C769T:p.P257S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.879	P	0.473	P	0.000	D	1.000	D	0.385	N	2.09	T	-1.100	T	0.043	T	0.607	0.533	6.885	6.17	2.941	7.817	20.879	0.297	0.0184425757539	7.7e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001552	24	154602	rs374406706	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	2.987e-05	0	0	0	5.617e-05	0	0.0002	0.0001	3.478e-05	5.256e-05	5.253e-05	8.993e-05	1.345e-05	0.0001	2.557e-05	1.83e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0	0.647	0.04897	T	0.89	0.03134	T	0.032	0.20242	B	0.033	0.22329	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.1	0.04694	N	2.09	0.20122	T	0.34	0.03824	N	0.409	0.44952	-1.0998	0.04116	T	0.043	0.18410	T	10	0.13761097	0.26177	T	0.018443	0.40505	T	0.297	0.61730	.	.	0.494858889337	0.49121	0.35041855544437434	0.34955	0.774521678833	0.64954	0.777044534683	0.78483	T	0.044022	0.26686	T	-0.272448	0.11486	T	-0.334295	0.40989	T	0.15205261657167	0.17266	T	0.936706	0.76258	D	0.21066695	0.43370	0.12137094	0.29284	0.21066695	0.43370	0.12137094	0.29283	-5.789	0.44478	T	.	.	0.262	0.49807	B	.;.;.	.;.;.	3.719892	0.53157	23.3	0.66195867220357851	0.07988	0.98881	0.88103	D	AEFBI	0.860694	0.77861	D	0.205700478662028	0.51475	3.328421	0.41175334951318	0.62295	4.44267	0.999999424193269	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.735000	0.83874	11.902000	0.99384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.879	0.99870	617	0.66297	MIF4G-like, type 3|MIF4G-like, type 3;MIF4G-like, type 3|MIF4G-like, type 3;MIF4G-like, type 3|MIF4G-like, type 3	.	.	.	.	.	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	2061.98	33	chr10	12029121	.	G	A	2061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=855;ExcessHet=0.0000;FS=5.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=1.17;SOR=0.630	GT:AD:DP:GQ:PL	0/1:74,77:151:99:2076,0,1901	20	0	1	0
chr10	13124076	13124076	G	A	exonic	OPTN	.	nonsynonymous SNV	OPTN:NM_021980:exon8:c.G964A:p.E322K	Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	692808	Amyotrophic_lateral_sclerosis_type_12|Primary_open_angle_glaucoma|Glaucoma_1,_open_angle,_E|not_provided	MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803|MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760|MedGen:C1842026|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs386741044	0.0012	0.0012	0.0012	0.0012	0.0225	0.0012	0.0011	0.0212	0.0207	0.0225	0.0015	0.0124	2.521e-05	0.0003	0.0052	0.0003	0.0033	0.0005	0.0068	0.0068	0.0067	0.0068	0.0214	0.0064	0.0063	0.0203	0.0198	0.0214	0	0.0022	0.0130	0	0.0002	0.0136	0.0005	0.0085	0.0010	.	.	.	0.05	0.48594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.67650	.	.	.	.	.	.	.	0.025428891	0.00737	T	.	.	.	.	.	.	.	.	.	0.32064790623952627	0.31977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-5.626	0.43862	T	0.4996042723260664	0.57505	0.257	0.49216	B	.;.;.;.;.;.	.;.;.;.;.;.	5.267881	0.88451	29.6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.997000	0.87980	9.974000	0.82880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	.	.	.	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	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	749.98	37	chr10	13124076	.	G	A	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=744;ExcessHet=0.0000;FS=2.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-3.170e-01;SOR=1.005	GT:AD:DP:GQ:PL	0/1:30,33:63:99:764,0,643	20	0	1	0
chr10	26224622	26224622	G	A	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon6:c.G695A:p.G232E	.	.	415	1103	4	0	0	4	0.00180995	.	.	701298	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.046	B	0.014	B	0.000	D	1.000	D	-0.495	N	1.21	T	-1.082	T	0.034	T	0.129	0.683	7.650	5.21	2.446	6.188	18.788	0.073	.	0.0075	0.00359425	0.0067	0.0013	0.0023	0	0.0086	0.0101	0.0066	0.0022	0.0066041	1021	154602	rs2839673	0.0080	0.0080	0.0082	0.0078	0.0090	0.0079	0.0078	0.0088	0.0087	0.0015	0.0029	0.0141	0	0.0093	0.0024	0.0090	0.0082	0.0025	0.0059	0.0059	0.0058	0.0060	0.0087	0.0056	0.0054	0.0082	0.0079	0.0016	0	0.0043	0.0118	0	0.0096	0.0034	0.0087	0.0081	0.0025	0.467	0.08559	T	1.0	0.01155	T	0.046	0.21875	B	0.014	0.16862	B	0.000003	0.62929	D	0.119241	1	0.81001	D	-0.55	0.02420	N	1.21	0.37230	T	0.29	0.04161	N	0.282	0.32037	-1.0817	0.07022	T	0.034	0.14421	T	10	0.0071927905	0.00164	T	.	.	.	0.073	0.21317	.	.	0.102598925029	0.09809	0.884749248604161	0.88442	0.519325346913	0.49757	0.613496363163	0.54809	T	0.244947	0.61416	T	-0.555905	0.00269	T	-0.564472	0.15961	T	0.0251972563727982	0.01298	T	0.916108	0.70062	D	0.31730086	0.54410	0.33986452	0.59746	0.31730086	0.54410	0.33986452	0.59745	-8.459	0.64157	D	.	.	0.097	0.20972	B	.;.;.	.;.;.	2.747327	0.36003	20.1	0.79017217796254569	0.12553	0.92564	0.56008	D	AEFBI	0.662828	0.63256	D	-0.161256440077824	0.34758	1.987812	0.0827844949828894	0.43681	2.66503	0.01991065545891	0.13207	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	6.267000	0.72514	10.035000	0.83175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.788	0.91927	655	0.62421	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1358.98	35	chr10	26224622	.	G	A	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=0.910;SOR=0.701	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1373,0,907	20	0	1	0
chr10	49611770	49611770	C	G	exonic	SLC18A3	.	nonsynonymous SNV	SLC18A3:NM_003055:exon1:c.C1030G:p.L344V,	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive	.	423	1092	7	0	0	7	0.00319489	.	.	1550479	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.43	T	0.019	B	0.057	B	0.011	U	1.000	N	0.56	N	0.33	T	-1.024	T	0.109	T	0.093	1.538	11.09	5.16	2.412	1.836	8.630	0.078	0.0140151082925	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0.0011	6.078e-05	0.0001358	21	154602	rs78571038	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	0.0003	0.0041	0	2.337e-05	0.0009	3.148e-05	0.0005	3.478e-05	0.0001	0.0001	0.0002	9.396e-05	0.0001	8.656e-05	7.25e-05	2.257e-05	9.06e-06	0	0	0.0001	0.0037	0	0	0.0068	2.94e-05	0.0005	0	0.394	0.10694	T	0.245	0.24054	T	0.019	0.17989	B	0.057	0.26280	B	0.011500	0.29512	U	0.268590	1	0.81001	D	0.515	0.13537	N	0.33	0.58323	T	-0.41	0.14000	N	0.061	0.03283	-1.0241	0.22377	T	0.109	0.39392	T	10	0.018533707	0.00404	T	0.014015	0.33851	T	0.078	0.22779	.	.	0.464528537357	0.46081	0.5159995734284365	0.51522	.	.	0.640356421471	0.58615	T	0.26173	0.63324	T	-0.41549	0.01829	T	-0.524081	0.19881	T	0.0266450039529982	0.01494	T	0.848015	0.52922	T	0.10263452	0.24253	0.11603332	0.28011	0.10263452	0.24253	0.11603332	0.28011	-4.217	0.26997	T	0.12133854897441868	0.11505	0.077	0.06250	B	.	.	3.106149	0.41883	21.4	0.96586455937655857	0.30355	0.82410	0.41642	D	AEFDGBCI	0.364241	0.45285	N	-0.19354764210071	0.33402	1.894622	0.0136760505467864	0.40348	2.406594	0.9999131878185	0.45857	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.16	5.16	0.70563	1.853000	0.38998	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2619:0.5868:0.1513:0.0	8.630	0.33076	602	0.67834	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	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	0.02381	2327.98	40	chr10	49611770	.	C	G	2327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.170e-01;DP=1103;ExcessHet=0.0000;FS=1.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=1.01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:77,94:171:99:2342,0,1864	20	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.165	13.20	3.2	1.510	3.070	10.264	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	0.2778	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,20,8,0:94:99:.:.:154,0,1832,152,1887,2889,345,2008,2631,2704	4	0	2	12
chr10	50104143	50104143	G	T	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737T:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	0.992	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.225	13.40	3.2	1.510	3.070	10.264	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.707e-07	6.36e-06	0	1.541e-06	1.03e-06	0	0	.	.	0	0	0	0	0	0	1.03e-06	0	0	0	1.327e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.101569474	0.18565	T	0.007221	0.19143	T	0.052	0.14661	0.155	0.05858	0.043077524339	0.03247	0.022149028868026752	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.0239667	0.48286	T	-0.272203	0.47596	T	0.882602095603943	0.53273	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.651825	0.92816	33	0.99780184817050044	0.86693	0.87410	0.46941	D	AEFI	0.330757	0.43070	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	0.2778	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,20,8,0:94:99:.:.:154,0,1832,152,1887,2889,345,2008,2631,2704	4	0	2	12
chr10	68437047	68437047	T	A	exonic	DNA2	.	nonsynonymous SNV	DNA2:NM_001080449:exon10:c.A1610T:p.E537V,	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.44	B	0.107	B	0.069	N	0.977	D	1.735	L	-2.9	D	0.151	D	0.692	D	0.358	1.459	10.82	2.62	0.754	1.827	8.155	0.341	0.345187264811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.91255	T	0.028	0.54934	D	0.328	0.35893	B	0.107	0.31211	B	0.069477	0.21603	N	0.505401	0.976948	0.39322	D	2.62	0.76659	M	-2.9	0.95953	D	-4.19	0.85541	D	0.575	0.59732	0.151	0.85073	D	0.692	0.89389	D	10	0.3968635	0.55289	T	0.345187	0.92121	D	0.341	0.66297	0.508	0.60386	0.797717899394	0.79583	0.5490143065349095	0.54827	0.261618459004	0.28708	0.344412654638	0.17096	T	0.133506	0.46422	T	0.171852	0.71294	D	0.00907764	0.70923	D	0.399601697921753	0.28927	T	0.693531	0.30321	T	0.09899333	0.23357	0.12760575	0.30714	0.09899333	0.23357	0.12760575	0.30713	-10.185	0.79162	D	0.4417241364248001	0.52710	0.154	0.35225	B	.;.;.	.;.;.	2.669358	0.34795	19.73	0.97523628334759782	0.34416	0.97046	0.72376	D	AEFDBI	0.346763	0.44147	N	-0.2184290877982	0.32378	1.825331	-0.168289522058625	0.32710	1.863715	0.0097454539629489	0.11907	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.17	2.62	0.30337	1.841000	0.38881	2.331000	0.32195	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.0:0.0721:0.1342:0.7937	8.155	0.30328	857	0.34089	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1204.98	33	chr10	68437047	.	T	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.338e+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=1.30;SOR=0.673	GT:AD:DP:GQ:PL	0/1:77,50:127:99:1219,0,2099	20	0	1	0
chr10	70146046	70146063	CTCTCAGTTGATCCGCCT	-	exonic	TYSND1	.	nonframeshift deletion	TYSND1:NM_001040273:exon1:c.524_541del:p.E175_R180del	.	.	411	1107	3	1	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000998403	0.0015	0.0005	0.0005	0.0045	0.0016	0.0017	0.0027	0.0009	0.0003458	9	26028	rs562289648	0.0020	0.0020	0.0020	0.0019	0.0023	0.0019	0.0019	0.0022	0.0022	0.0002	0.0005	3.865e-05	0.0019	0.0003	0.0009	0.0023	0.0017	0.0011	0.0012	0.0012	0.0013	0.0012	0.0033	0.0011	0.0010	0.0021	0.0017	0.0005	0	0.0007	0	0.0033	0.0005	0	0.0019	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	717.94	38	chr10	70146045	.	GCTCTCAGTTGATCCGCCT	G	717.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=899;ExcessHet=0.0000;FS=0.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.548;SOR=0.896	GT:AD:DP:GQ:PL	0/1:50,21:71:99:732,0,1995	20	0	1	0
chr10	71803310	71803310	G	C	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon8:c.G1042C:p.E348Q	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	YES	1	1454	63	4	0	71	0.0238335	.	.	55203	Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_specified|not_provided	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.006	B	0.181	N	0.992	N	-0.03	N	4.65	T	-0.936	T	0.003	T	0.017	-0.378	2.222	-2.58	-0.719	-0.017	16.621	0.072	.	0.0082	0.00658946	0.0144	0.0019	0.0051	0	0.0035	0.0149	0.0189	0.0287	0.00804	1243	154602	rs41281338	0.0100	0.0100	0.0095	0.0105	0.0237	0.0098	0.0098	0.0229	0.0225	0.0013	0.0036	0.0056	5.236e-05	0.0042	0.0186	0.0101	0.0093	0.0237	0.0073	0.0073	0.0072	0.0073	0.0207	0.0069	0.0068	0.0174	0.0162	0.0016	0	0.0061	0.0075	0.0002	0.0032	0.0068	0.0113	0.0066	0.0207	0.58	0.05992	T	0.172	0.30241	T	0.0	0.02946	B	0.005	0.11217	B	0.181411	0.17092	N	0.552256	0.999999	0.08975	N	0.845	0.21182	L	4.65	0.01779	T	-0.05	0.07736	N	0.143	0.17966	-0.9365	0.43164	T	0.003	0.00864	T	10	0.0042585135	0.00085	T	.	.	.	0.072	0.21020	.	.	0.332386209738	0.32853	0.2250098621263309	0.22415	0.141875730321	0.15990	0.290573954582	0.09005	T	0.008282	0.42434	T	-0.757954	0.00016	T	-0.843271	0.01051	T	0.000131290159326566	0.00001	T	0.714629	0.32694	T	0.09665936	0.22772	0.09581675	0.22741	0.07366605	0.16476	0.11269583	0.27192	-1.765	0.02407	T	.	.	0.057	0.00806	B	.;.;.;.	.;.;.;.	0.254778	0.06335	2.799	0.48566796264938689	0.04064	0.01605	0.05203	N	AEFDGBI	0.068685	0.13561	N	-1.37053670912072	0.02918	0.129567	-1.36125860524623	0.03675	0.1719123	0.998552506792226	0.37186	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	-2.58	0.05866	-0.003000	0.12836	0.772000	0.21405	-0.191000	0.09375	0.002000	0.15269	0.207000	0.23614	0.627000	0.32078	0.1008:0.2334:0.6658:0.0	16.621	0.84784	807	0.43470	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;.	MICU1	Testis	PSAP|PSAP|PSAP|PSAP	Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	Likely benign	0	0	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	0.04762	4190.11	34	chr10	71803310	.	G	C	4190.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.634;DP=1125;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.393;SOR=0.691	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1756,0,1702	19	0	2	0
chr10	75105791	75105791	G	A	exonic	DUSP13	.	nonsynonymous SNV	DUSP13:NM_001007271:exon3:c.C445T:p.R149W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.606	P	.	.	1.000	N	2.72	M	0.11	T	-0.735	T	0.281	T	0.316	2.881	15.60	1.8	1.233	1.596	10.393	0.215	0.00676546078505	.	.	5.223e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs201689968	1.573e-05	1.642e-05	8.467e-06	2.319e-05	8.837e-05	1.03e-05	8.79e-06	4.064e-05	2.853e-05	0	2.794e-05	0	5.588e-05	0	0	1.112e-05	0	8.837e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.406e-05	0	1.47e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	0.988	0.62325	D	0.606	0.50970	P	.	.	.	.	1	0.08975	N	3.465	0.92394	M	0.11	0.61208	T	-3.65	0.69950	D	0.345	0.38643	-0.7353	0.58694	T	0.281	0.65299	T	9	0.29925573	0.47478	T	0.006765	0.17868	T	0.215	0.50805	0.494	0.58206	0.45553875121	0.45177	.	.	.	.	.	.	.	0.465065	0.80036	T	-0.296786	0.08966	T	-0.664089	0.07993	T	0.521020948886871	0.33403	D	0.773923	0.40554	T	.	.	.	.	.	.	.	.	-7.887	0.60298	D	.	.	0.222	0.45323	B	.	.	2.486377	0.32075	18.93	0.99830396365549634	0.91198	0.14876	0.18631	N	AEFDBCI	0.338275	0.43581	N	0.104359457365672	0.46665	2.903494	-0.0407824390057141	0.37891	2.224827	0.999953082991104	0.48110	0.487112	0.14033	0	0.547309	0.14657	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.81	1.8	0.24069	1.599000	0.36361	2.690000	0.34081	0.676000	0.76740	0.009000	0.18154	1.000000	0.68203	0.886000	0.42526	0.0:0.1255:0.6181:0.2564	10.393	0.43367	23	0.98420	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic|Dual specificity protein phosphatase 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	726.98	33	chr10	75105791	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.108e+00;DP=775;ExcessHet=0.0000;FS=3.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.136;SOR=0.843	GT:AD:DP:GQ:PL	0/1:38,30:68:99:741,0,1047	20	0	1	0
chr10	87366280	87366280	C	T	exonic	NUTM2D	.	stopgain	NUTM2D:NM_001382304:exon7:c.C1777T:p.Q593X,	.	.	398	1095	29	0	0	29	0.0130689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.961	T	0.172	T	.	0.183	4.986	-1.84	-1.662	-0.588	7.354	0.018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325384618	0.0026	0.0078	0.0024	0.0029	0.0096	0.0025	0.0025	0.0074	0.0067	0.0007	0.0023	0.0038	2.519e-05	0.0055	0.0096	0.0024	0.0030	0.0041	0.0050	0.0080	0.0053	0.0048	0.0075	0.0047	0.0046	0.0070	0.0067	0.0010	0.0044	0.0052	0.0067	0	0.0068	0.0103	0.0075	0.0077	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.009328	0.01237	N	2.813430	0.999998	0.58761	D	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.857955	0.00002	T	-1.00759	0.00125	T	0.00221969696228133	0.00023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	3.764689	0.54042	23.4	0.80930663807776171	0.13437	0.00066	0.00474	N	AEFI	0.019097	0.00634	N	-1.22212934180185	0.04680	0.211748	-1.47293700254715	0.02568	0.1183608	8.14036392797832E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.919	-1.84	0.07387	-0.266000	0.08660	-1.961000	0.04429	-0.995000	0.01833	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3421:0.6579:0.0	7.354	0.25884	681	0.59854	Nuclear Testis  protein, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	458.98	35	chr10	87366280	.	C	T	458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.320e-01;DP=995;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.91;MQRankSum=-3.042e+00;QD=2.16;ReadPosRankSum=-6.850e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:171,41:212:99:473,0,4021	20	0	1	0
chr10	95711957	95711957	A	G	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.A1G:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.99	T	-0.984	T	0.022	T	0.239	0.003	4.029	0.458	0.454	0.268	.	0.050	0.0258532624206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919503156	1.027e-05	1.026e-05	1.09e-05	9.633e-06	2.99e-05	6.17e-06	4.89e-06	5.75e-06	4.55e-06	2.99e-05	0	0	2.519e-05	0	0	1.079e-05	1.658e-05	0	3.349e-05	0.0008	5.229e-05	1.374e-05	7.396e-05	1.279e-05	8.11e-06	1.961e-05	1.043e-05	7.396e-05	0	0	0	0	0	0	2.982e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.99	0.09262	T	-0.01	0.07155	N	0.636	0.64903	-0.9843	0.33998	T	0.022	0.09147	T	7	0.9436738	0.93692	D	0.025853	0.48797	D	0.050	0.13987	0.995	0.99946	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.356997	0.04303	T	-0.581449	0.14417	T	0.0875836804388688	0.10928	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.549	0.42324	T	.	.	.	.	.	.	.	1.019411	0.13987	10.55	0.53643955591518877	0.04980	0.00569	0.02581	N	AEFGBI	0.012711	0.00146	N	-0.881114104686083	0.11293	0.5441785	-1.01454963048692	0.09465	0.471041	0.00272844770582347	0.09662	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.267000	0.18318	.	.	0.300000	0.18932	0.266000	0.25007	0.945000	0.28875	0.278000	0.23967	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	323.39	32	chr10	95711957	.	A	G	323.39	.	AC=5;AF=0.139;AN=36;BaseQRankSum=1.70;DP=633;ExcessHet=1.1607;FS=22.468;InbreedingCoeff=-0.1784;MLEAC=5;MLEAF=0.139;MQ=57.80;MQRankSum=-5.093e+00;QD=2.34;ReadPosRankSum=0.645;SOR=3.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,4:22:99:0|1:95711925_A_T:114,0,744:95711925	13	0	5	3
chr10	95711959	95711959	G	C	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.G3C:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.97	T	-0.985	T	0.022	T	0.301	0.321	5.743	0.458	0.538	0.278	.	0.055	0.0243099664364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433519358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.97	0.09450	T	0.0	0.07008	N	0.693	0.69825	-0.9851	0.33808	T	0.022	0.09193	T	7	0.94950134	0.94283	D	0.02431	0.47297	T	0.055	0.15663	0.993	0.99924	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.217906	0.18280	T	-0.550783	0.17250	T	0.141772925853729	0.16427	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.73	0.43959	T	.	.	.	.	.	.	.	0.932069	0.13072	9.577	0.96361290402127009	0.29550	0.00779	0.03201	N	AEFGBI	0.011946	0.00117	N	-0.858725517021361	0.11836	0.5734107	-0.993793893458475	0.09924	0.4966357	0.00285753038931223	0.09753	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.280000	0.18550	.	.	0.272000	0.18543	0.255000	0.24900	0.876000	0.27648	0.265000	0.23644	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	404.05	34	chr10	95711959	.	G	C	404.05	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.673;DP=644;ExcessHet=1.1607;FS=19.869;InbreedingCoeff=-0.1851;MLEAC=6;MLEAF=0.167;MQ=57.78;MQRankSum=-5.316e+00;QD=2.87;ReadPosRankSum=0.611;SOR=2.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,4:22:99:0|1:95711925_A_T:114,0,744:95711925	13	0	5	3
chr10	95711966	95711966	-	C	exonic	ENTPD1	.	frameshift insertion	ENTPD1:NM_001098175:exon1:c.11dupC:p.K5Qfs*11,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353731498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.585e-06	0.0008	0	1.349e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	370.88	34	chr10	95711966	.	A	AC	370.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.21;DP=666;ExcessHet=0.6776;FS=17.575;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.06;MQRankSum=-5.316e+00;QD=3.07;ReadPosRankSum=0.238;SOR=2.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,5:25:99:0|1:95711925_A_T:150,0,825:95711925	17	0	4	0
chr10	95711973	95711973	A	-	exonic	ENTPD1	.	frameshift deletion	ENTPD1:NM_001098175:exon1:c.17delA:p.D6Afs*2,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146056164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.601e-06	0.0018	0	1.351e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	686.4	34	chr10	95711972	.	GA	G	686.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.485;DP=713;ExcessHet=1.1607;FS=0.739;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.11;MQRankSum=-5.587e+00;QD=4.09;ReadPosRankSum=0.00;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,9:30:99:0|1:95711925_A_T:234,0,830:95711925	16	0	5	0
chr10	95711979	95711979	C	G	exonic	ENTPD1	.	nonsynonymous SNV	ENTPD1:NM_001098175:exon1:c.C23G:p.T8R,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.087	B	0.018	B	.	.	1.000	N	.	.	2.85	T	-0.985	T	0.019	T	0.082	-0.732	0.871	-0.916	-0.340	0.235	.	0.018	0.00180847012655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776554101	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0025	0.0001	0.0001	0.0001	6.73e-05	5.499e-05	6.466e-05	4.42e-05	0.0001	0	0	0	0	0.0002	0	0.0001	0.0005	0	0.116	0.28395	T	0.189	0.28575	T	0.087	0.24971	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.03	0.07444	N	0.159	0.16586	-0.9848	0.33879	T	0.019	0.07800	T	7	0.056895226	0.06450	T	0.001808	0.03115	T	0.018	0.03083	0.201	0.11522	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.364491	0.03883	T	-0.761343	0.03064	T	0.0465263334017623	0.04879	T	0.39886	0.10126	T	.	.	.	.	.	.	.	.	-3.096	0.11250	T	.	.	0.083	0.09191	B	.	.	0.323582	0.06979	3.532	0.70516184951874417	0.09321	0.00278	0.01504	N	AEFGBI	0.034974	0.04426	N	-1.1441077205401	0.05877	0.2691008	-1.29943115007538	0.04439	0.2093725	0.00278882824345698	0.09705	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	0.236000	0.17745	.	.	0.245000	0.18292	0.167000	0.23894	0.053000	0.21875	0.081000	0.17303	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	722.94	38	chr10	95711979	.	C	G	722.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-8.280e-01;DP=756;ExcessHet=1.1607;FS=1.533;InbreedingCoeff=-0.1834;MLEAC=6;MLEAF=0.167;MQ=57.11;MQRankSum=-5.592e+00;QD=4.15;ReadPosRankSum=-2.350e-01;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,10:33:99:0|1:95711925_A_T:249,0,850:95711925	13	0	5	3
chr10	96955528	96955528	G	A	exonic	LCOR	.	nonsynonymous SNV	LCOR:NM_001170765:exon8:c.G908A:p.S303N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.791	P	0.263	B	0.000	D	0.600	N	0.345	N	.	.	-1.018	T	0.075	T	0.183	1.746	11.80	5.54	2.768	5.590	19.847	0.150	0.00219062077081	.	.	8.264e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs769709239	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.273	0.22154	T	0.791	0.44643	P	0.135	0.39594	B	0.000138	0.49741	D	0.259097	0.600104	0.30948	N	1.245	0.31408	L	.	.	.	-0.84	0.22944	N	0.124	0.36148	-1.0181	0.24334	T	0.075	0.30272	T	9	0.14169323	0.26921	T	0.002191	0.04124	T	0.150	0.39571	0.108	0.01928	0.373217324921	0.36936	.	.	0.529786557781	0.50535	.	.	.	0.024099	0.18273	T	-0.212198	0.19070	T	-0.44573	0.28169	T	0.364406026652992	0.27581	T	0.808019	0.45805	T	0.24663335	0.47634	0.1833644	0.41321	0.24663335	0.47634	0.1833644	0.41320	-4.446	0.31188	T	.	.	0.075	0.05360	B	.;.;.;.	.;.;.;.	3.311678	0.45507	22.1	0.98588046660358908	0.43336	0.97100	0.72689	D	AEFBI	0.563465	0.57064	D	0.262272454986519	0.54250	3.590919	0.412712365517487	0.62356	4.449644	0.999997647125982	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.446627	0.06593	0	0.635551	0.53088	0	.	.	5.54	5.54	0.82907	2.806000	0.47644	10.037000	0.83178	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.847	0.96710	711	0.56613	.;.;.;.	.	.	.	.	.	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	1861.98	33	chr10	96955528	.	G	A	1861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=860;ExcessHet=0.0000;FS=10.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.022;SOR=1.095	GT:AD:DP:GQ:PL	0/1:78,68:146:99:1876,0,2089	20	0	1	0
chr10	97401168	97401168	G	A	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001145114:exon1:c.C64T:p.H22Y	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.994	D	0.000	N	1.000	D	2.42	M	1.5	T	-0.680	T	0.215	T	0.644	4.983	29.2	5.34	2.656	8.955	18.174	0.238	0.0367685403892	.	.	1.658e-05	0	0	0	0	3.02e-05	0	0	1.29e-05	2	154602	rs753996465	3.215e-05	3.215e-05	3.131e-05	3.3e-05	0.0002	2.478e-05	2.22e-05	3.085e-05	2.753e-05	0	0	0	0	0	0.0002	4.047e-05	1.656e-05	0	1.314e-05	1.313e-05	1.285e-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	0.024	0.63226	D	0.005	0.72224	D	0.998	0.73220	D	0.897	0.82059	P	0.000000	0.84330	N	0.046223	1	0.81001	D	2.56	0.74772	M	1.45	0.32482	T	-2.56	0.55821	D	0.555	0.58031	-0.6801	0.61368	T	0.215	0.57666	T	10	0.4910593	0.60994	T	0.036769	0.57199	D	0.238	0.54217	0.217	0.13788	0.764209397972	0.76206	0.37680421552296894	0.37595	1.69966180657	0.90266	0.788077056408	0.80150	T	0.044036	0.32370	T	0.0424013	0.57359	T	-0.161384	0.58228	T	0.980013608932495	0.73133	D	0.938506	0.81930	D	0.6313992	0.74373	0.7226988	0.83624	0.6313992	0.74374	0.7226988	0.83625	-4.825	0.34881	T	.	.	0.193	0.47665	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.075747	0.84686	28.4	0.99734088989705905	0.82975	0.96236	0.68162	D	ALL	0.900681	0.84649	D	0.884332807390303	0.90972	10.65309	0.858182380993439	0.93484	12.07389	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.34	5.34	0.75982	9.132000	0.93737	11.508000	0.92991	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.174	0.89688	401	0.82673	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	800.98	35	chr10	97401168	.	G	A	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.460e-01;DP=797;ExcessHet=0.0000;FS=1.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=-6.150e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:38,34:72:99:815,0,984	20	0	1	0
chr10	101006872	101006872	C	T	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.C1054T:p.R352W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.581	P	0.001	D	0.998	D	1.79	L	0.61	T	-0.806	T	0.164	T	0.764	4.518	24.3	3.17	0.607	1.193	13.087	0.276	0.116010814835	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924657673	1.526e-05	3.831e-05	1.567e-05	1.483e-05	0.0004	9.81e-06	8.32e-06	7.101e-05	2.958e-05	0	2.893e-05	9.086e-05	0	0	0.0004	1.219e-05	0	4.05e-05	6.578e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.068	0.44106	T	0.977	0.58535	D	0.581	0.50218	P	0.000561	0.43413	D	0.195957	0.998493	0.44993	D	2.105	0.58435	M	0.61	0.53516	T	-4.7	0.79829	D	0.381	0.42247	-0.8059	0.54795	T	0.164	0.50176	T	10	0.3054611	0.48063	T	0.116011	0.79537	D	0.276	0.59253	.	.	0.551663723333	0.54823	0.44117365238653544	0.44034	0.452373610566	0.44962	0.731557548046	0.71733	T	0.232391	0.59894	T	0.0968641	0.63951	D	-0.0986379	0.63504	T	0.395498492301823	0.28772	T	0.890411	0.62412	D	0.43412915	0.63021	0.4630955	0.68830	0.43412915	0.63022	0.4630955	0.68831	-6.625	0.51244	T	.	.	0.171	0.37558	B	.;.	.;.	4.637270	0.73792	26.0	0.99915215516181755	0.98379	0.82672	0.41868	D	AEFDBCI	0.717002	0.66866	D	0.257859650992913	0.54028	3.569552	0.237440363705687	0.51937	3.372202	0.999999850651305	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.1	3.17	0.35510	1.290000	0.32925	4.001000	0.41074	0.524000	0.24156	0.879000	0.30968	1.000000	0.68203	0.979000	0.57723	0.2929:0.7071:0.0:0.0	13.087	0.58558	554	0.71839	.;.	.	.	.	.	.	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	1956.11	33	chr10	101006872	.	C	T	1956.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.82;DP=874;ExcessHet=0.1072;FS=0.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.838;SOR=0.807	GT:AD:DP:GQ:PL	0/1:21,26:47:99:711,0,458	19	0	2	0
chr10	102066534	102066534	C	T	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.C1060T:p.H354Y,	Hermansky-Pudlak syndrome 6	.	0	1515	7	0	0	7	0.00230491	.	.	494109	not_specified|not_provided|Hermansky-Pudlak_syndrome_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.001	B	0.004	B	0.040	N	1.000	N	0.4	N	-1.1	T	-0.962	T	0.208	T	0.166	-0.059	3.712	1.13	0.324	0.357	9.902	0.080	0.017421491451	0.0004	.	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0003752	58	154602	rs149692177	0.0003	0.0003	0.0003	0.0003	0.0062	0.0003	0.0003	0.0046	0.0041	0	0.0002	0.0013	0	3.748e-05	0.0062	0.0003	0.0004	0.0002	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	9.62e-05	0	0.0003	0.0012	0	0	0	0.0005	0.0009	0	0.297	0.14645	T	0.545	0.09588	T	0.001	0.07471	B	0.004	0.10090	B	0.039543	0.24158	N	0.407957	1	0.08975	N	0.77	0.19370	N	-1.1	0.77336	T	-1.84	0.43149	N	0.207	0.22998	-0.9617	0.38858	T	0.208	0.56717	T	10	0.022665799	0.00572	T	0.017421	0.39111	T	0.080	0.23350	.	.	0.371718192555	0.36778	0.5225928693087791	0.52182	0.550565468982	0.51920	0.488987207413	0.37298	T	0.232892	0.59957	T	-0.35371	0.04499	T	-0.388372	0.34741	T	0.0305371545255184	0.02072	T	0.569643	0.20265	T	0.05374947	0.10217	0.07234307	0.15597	0.05374947	0.10217	0.07234307	0.15597	-4.402	0.29585	T	0.14166376916505227	0.15956	0.076	0.05935	B	.	.	1.444972	0.18651	13.85	0.852437211366744	0.15772	0.10009	0.15631	N	AEFDGBCI	0.071452	0.14224	N	-1.03145122456286	0.07956	0.3714085	-0.961473709549294	0.10658	0.5381762	0.999925226716909	0.46280	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	5.09	1.13	0.19758	0.829000	0.27102	0.378000	0.17749	-0.182000	0.10109	0.007000	0.17678	0.055000	0.21918	0.652000	0.32748	0.0:0.7185:0.0:0.2815	9.902	0.40525	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	3818.11	35	chr10	102066534	.	C	T	3818.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.510;DP=1025;ExcessHet=0.1072;FS=1.292;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.784;SOR=0.776	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1598,0,2259	19	0	2	0
chr10	103379720	103379720	G	A	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon4:c.G1226A:p.S409N	.	.	426	1064	30	2	0	34	0.0157262	.	.	806380	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.43	T	0.004	B	0.004	B	0.000	D	1.000	D	0	N	0.64	T	-1.052	T	0.056	T	0.071	1.185	9.817	5.64	2.645	4.689	11.099	0.048	.	0.0056	0.00399361	0.0056	0.0011	0.0016	0	0.0003	0.0062	0.0055	0.0140	0.0057373	887	154602	rs142451092	0.0076	0.0076	0.0075	0.0078	0.0134	0.0075	0.0074	0.0121	0.0119	0.0009	0.0017	0.0087	2.524e-05	0.0004	0.0134	0.0083	0.0069	0.0128	0.0042	0.0042	0.0042	0.0043	0.0131	0.0040	0.0039	0.0105	0.0095	0.0013	0	0.0021	0.0113	0	0.0002	0	0.0065	0.0062	0.0131	0.422	0.09776	T	0.293	0.20811	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.84330	D	0.036225	0.999757	0.48800	D	0.44	0.12706	N	0.64	0.52867	T	-1.11	0.28703	N	0.176	0.18920	-1.0525	0.13709	T	0.056	0.23413	T	10	0.0035065114	0.00063	T	.	.	.	0.048	0.13305	.	.	0.529862097387	0.52634	0.3373209658794253	0.33645	0.713057731645	0.61797	0.604621291161	0.53557	T	0.013891	0.11931	T	-0.560698	0.00251	T	-0.567149	0.15713	T	0.0121472111995332	0.00194	T	0.79622	0.43953	T	0.13390729	0.31129	0.15192956	0.35767	0.13390729	0.31129	0.15192956	0.35766	-4.102	0.25320	T	.	.	0.094	0.14339	B	.	.	2.200970	0.28072	17.67	0.89981633994300625	0.19274	0.96506	0.69479	D	AEFBI	0.528536	0.55002	D	-0.143862010913901	0.35496	2.03962	0.105540337948869	0.44831	2.757352	0.99482769110017	0.33818	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.64	5.64	0.86480	4.786000	0.62117	5.017000	0.46715	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.1431:0.0:0.8569:0.0	11.099	0.47386	242	0.90534	.	.	.	.	.	.	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	1790.11	34	chr10	103379720	.	G	A	1790.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.900e-02;DP=803;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.688;SOR=0.673	GT:AD:DP:GQ:PL	0/1:26,40:66:99:1062,0,684	19	0	2	0
chr10	105200069	105200069	C	T	exonic	SORCS3	.	nonsynonymous SNV	SORCS3:NM_014978:exon15:c.C2080T:p.R694W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.959	D	0.000	N	1.000	D	3.205	M	1.56	T	-0.664	T	0.214	T	0.478	4.181	21.7	4.23	0.903	1.203	8.378	0.306	0.0601097493562	.	.	3.298e-05	0	0	0	0	4.499e-05	0	6.061e-05	2.59e-05	4	154602	rs202188584	3.49e-05	3.489e-05	2.451e-05	4.539e-05	0.0002	2.698e-05	2.439e-05	2.995e-05	2.038e-05	5.981e-05	2.237e-05	0	2.519e-05	0.0005	0.0002	8.096e-06	6.627e-05	6.957e-05	4.6e-05	4.597e-05	1.285e-05	8.072e-05	6.545e-05	2.109e-05	1.527e-05	1.171e-05	6.25e-06	0	0	6.545e-05	0	0	0.0003	0	4.41e-05	0	0	0.01	0.56456	D	0.001	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000002	0.62929	N	0.057204	0.999822	0.49512	D	3.57	0.93460	H	1.56	0.29602	T	-6.64	0.92217	D	0.433	0.49874	-0.6638	0.62108	T	0.214	0.57494	T	9	0.4287163	0.57347	T	0.06011	0.67892	D	0.306	0.62729	.	.	0.566010919861	0.56265	0.9112356988839926	0.91097	1.11478728915	0.78149	0.448437571526	0.31731	T	0.340982	0.70994	T	-0.190448	0.22193	T	-0.329814	0.41489	T	0.77723645977726	0.44878	D	0.941806	0.78262	D	0.44616818	0.63798	0.34546185	0.60228	0.44616818	0.63799	0.34546185	0.60228	-8.838	0.66648	D	.	.	0.158	0.35288	B	.;.	.;.	4.537813	0.71295	25.7	0.99930053286944798	0.99334	0.84807	0.43897	D	AEFI	0.637561	0.61630	D	0.573142110490475	0.71502	5.66059	0.501722569310322	0.68107	5.174565	0.00124647765639028	0.08372	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	4.23	0.49319	0.972000	0.29007	1.123000	0.24260	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1237:0.759:0.0:0.1173	8.378	0.31614	127	0.94899	Sortilin, C-terminal|VPS10;Sortilin, C-terminal|VPS10	.	.	.	.	.	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	1333.98	41	chr10	105200069	.	C	T	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=854;ExcessHet=0.0000;FS=1.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.829;SOR=0.566	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1348,0,1660	20	0	1	0
chr10	109888578	109888578	T	C	exonic	XPNPEP1	.	nonsynonymous SNV	XPNPEP1:NM_001324128:exon4:c.A91G:p.T31A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.116	B	0.034	B	0.000	D	1.000	D	2.055	M	.	.	-0.707	T	0.237	T	0.322	3.444	17.66	5.82	2.229	3.586	14.759	0.119	0.00561056718364	.	.	4.269e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs759432545	9.613e-06	1.026e-05	2.73e-06	1.658e-05	0.0001	5.58e-06	4.36e-06	8.099e-05	6.316e-05	0	0	0	0	0	0	0	3.323e-05	0.0001	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.008	0.68238	D	0.013	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.051146	0.999915	0.51042	D	.	.	.	.	.	.	-2.76	0.58733	D	0.321	0.40164	-0.7070	0.60100	T	0.237	0.60379	T	9	0.19192293	0.34899	T	0.005611	0.14500	T	0.119	0.33137	0.286	0.24440	0.117191471859	0.11215	0.49048063471689357	0.48968	0.576793255271	0.53631	0.468958586454	0.34537	T	.	.	.	-0.191914	0.21977	T	-0.265139	0.48309	T	0.607243537902832	0.36690	D	0.857514	0.54691	D	.	.	.	.	.	.	.	.	-7.361	0.59154	T	.	.	0.133	0.28664	B	.;.;.;.;.	.;.;.;.;.	3.627695	0.51366	23.1	0.99544787885473607	0.70773	0.89145	0.49436	D	AEFDBCI	0.531049	0.55149	D	0.0916658710626273	0.46075	2.853528	0.249911911393808	0.52643	3.437932	0.999999966863158	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.82	5.82	0.92740	3.570000	0.53578	6.194000	0.54806	0.644000	0.52426	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.759	0.69213	963	0.08280	Creatinase, N-terminal;.;.;Creatinase, N-terminal;Creatinase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	807.98	36	chr10	109888578	.	T	C	807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=759;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-2.642e+00;SOR=0.453	GT:AD:DP:GQ:PL	0/1:28,31:59:99:822,0,617	20	0	1	0
chr10	118691288	118691288	T	A	exonic	CACUL1	.	nonsynonymous SNV	CACUL1:NM_153810:exon7:c.A1002T:p.E334D,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.007	B	0.004	B	0.000	D	1.000	D	0.345	N	-1.17	T	-0.935	T	0.197	T	0.256	2.402	13.99	0.962	0.518	0.839	6.642	0.225	0.0318111140075	.	.	1.661e-05	0	0	0.0001	0	1.502e-05	0	0	1.29e-05	2	154602	rs777492509	1.984e-05	1.984e-05	1.089e-05	2.889e-05	0.0002	1.392e-05	1.204e-05	0.0001	0.0001	0	0	0	0.0001	0	0.0002	5.397e-06	1.656e-05	0.0002	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.239	0.17761	T	0.134	0.34241	T	0.007	0.14184	B	0.004	0.10090	B	0.000000	0.84330	D	0.049835	0.999608	0.47795	D	0.695	0.17993	N	-1.17	0.78199	T	-0.88	0.23808	N	0.326	0.36674	-0.9350	0.43394	T	0.197	0.55129	T	10	0.113934696	0.21421	T	0.031811	0.53799	D	0.225	0.52323	0.416	0.45544	0.305926609036	0.30200	0.6087788196422214	0.60809	0.310517131312	0.33367	0.640804290771	0.58679	T	0.058224	0.30783	T	-0.263705	0.12470	T	-0.316246	0.42984	T	0.078059288964762	0.09737	T	0.756024	0.37907	T	0.1335744	0.31064	0.12740986	0.30671	0.1335744	0.31064	0.12740986	0.30670	-4.153	0.26068	T	.	.	0.089	0.12132	B	.	.	2.039937	0.25929	16.94	0.98604562863045264	0.43559	0.93516	0.58430	D	AEFDGBI	0.346499	0.44129	N	-0.440859111220908	0.24050	1.295936	-0.267855218730286	0.29163	1.631756	0.949874333951446	0.27867	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.97	0.962	0.18763	0.857000	0.27486	0.758000	0.21291	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.299:0.1308:0.5702	6.642	0.22104	353	0.85335	.	.	.	.	.	.	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	900.98	36	chr10	118691288	.	T	A	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.790e-01;DP=796;ExcessHet=0.0000;FS=2.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-1.000e-01;SOR=0.849	GT:AD:DP:GQ:PL	0/1:56,40:96:99:915,0,1426	20	0	1	0
chr10	122676837	122676837	G	A	exonic	LOC112577516	.	stopgain	LOC112577516:NM_001364461:exon3:c.G158A:p.W53X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	38.43	58	chr10	122676837	.	G	A	38.43	.	AC=2;AF=0.091;AN=22;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2444;MLEAC=2;MLEAF=0.091;MQ=60.00;QD=19.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	10	1	0	10
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	2|2:0,0,231,0:231:99:1|1:124021236_CG_C:9940,9940,9940,695,695,0,9940,9940,695,9940:124021236	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	2|2:0,0,231,0:231:99:1|1:124021236_CG_C:9940,9940,9940,695,695,0,9940,9940,695,9940:124021236	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|1:100,21:121:99:0|1:124989533_G_A:499,0,4085:124989533	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	0/1:109,15:124:93:93,0,3636	1	0	20	0
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|1:113,20:133:99:0|1:124994489_T_G:500,0,4664:124994489	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|1:119,24:143:99:0|1:124994489_T_G:614,0,4895:124994489	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|1:119,24:143:99:0|1:124994489_T_G:614,0,4860:124994489	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|1:117,27:144:99:0|1:124994523_G_A:725,0,4768:124994523	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	0/1:110,31:141:99:467,0,3171	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	0/1:113,33:146:99:444,0,3278	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|1:124,34:158:99:0|1:124994577_C_A:988,0,5020:124994577	0	0	21	0
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S	.	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.041	B	0.069	B	0.000	N	0.999	D	1.21	L	-1.93	D	-0.330	T	0.453	T	0.622	2.408	14.01	3.79	0.824	5.018	11.226	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1345.64	103	chr10	125003062	.	T	A	1345.64	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.762e+00;DP=2793;ExcessHet=1.7912;FS=10.332;InbreedingCoeff=-0.3044;MLEAC=8;MLEAF=0.286;MQ=57.06;MQRankSum=-6.687e+00;QD=2.31;ReadPosRankSum=1.25;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,6:81:26:0|1:125003062_T_A:26,0,3114:125003062	8	0	6	7
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F	.	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.946	D	0.000	N	1.000	D	1.455	L	0.6	T	-0.651	T	0.246	T	0.862	4.563	24.7	3.79	0.824	8.033	11.226	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	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	.	.	.	.	.	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	1343.45	102	chr10	125003065	.	T	A	1343.45	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.729e+00;DP=2798;ExcessHet=1.7912;FS=10.427;InbreedingCoeff=-0.3097;MLEAC=8;MLEAF=0.286;MQ=57.07;MQRankSum=-6.630e+00;QD=2.30;ReadPosRankSum=1.20;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,6:82:23:0|1:125003062_T_A:23,0,3136:125003062	8	0	6	7
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X	.	.	432	1023	67	0	0	67	0.0317085	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	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	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,10:127:68:0|1:125039033_T_A:68,0,4871:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	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	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,10:127:68:0|1:125039033_T_A:68,0,4871:125039033	9	0	12	0
chr10	125859758	125859758	C	T	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon3:c.G694A:p.V232M,	.	.	430	1090	2	0	0	2	0.00091659	.	.	1462179	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.965	D	0.727	P	0.065	N	1.000	N	2.8	M	2.14	T	-0.897	T	0.126	T	0.324	1.861	12.18	3.12	0.293	1.347	16.121	0.184	0.00864235651168	7.7e-05	.	0.0003	0	8.637e-05	0.0001	0	0.0001	0	0.0015	0.0002199	34	154602	rs368692405	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0011	0.0010	5.974e-05	4.472e-05	0.0008	0.0003	0	0.0017	7.914e-05	0.0004	0.0013	0.0001	0.0001	6.427e-05	0.0002	0.0006	7.583e-05	6.287e-05	0.0002	9.007e-05	2.416e-05	0	6.545e-05	0.0006	0	0	0	0.0002	0	0.0006	0.039	0.42487	D	0.08	0.41913	T	0.93	0.51791	P	0.191	0.36391	B	0.065132	0.21903	N	0.478949	0.752039	0.29628	N	2.455	0.71248	M	2.14	0.19450	T	-1.21	0.30762	N	0.258	0.29197	-0.8975	0.48244	T	0.126	0.43112	T	10	0.04130611	0.02775	T	0.008642	0.22829	T	0.184	0.45763	.	.	0.446510307777	0.44274	0.36675737830681443	0.36589	0.281262430898	0.30601	0.344441562891	0.17100	T	0.141621	0.47677	T	-0.449549	0.01136	T	-0.464074	0.26158	T	0.0606883793537044	0.07277	T	0.846115	0.52582	T	0.05722129	0.11359	0.07216455	0.15538	0.05722129	0.11359	0.07216455	0.15538	-9.133	0.68549	D	.	.	0.117	0.23918	B	.	.	3.484000	0.48668	22.7	0.91467083949721328	0.20738	0.52409	0.29125	D	AEFGBI	0.202316	0.32891	N	-0.49159725905741	0.22356	1.193124	-0.565432884083291	0.20396	1.098729	0.999005654070081	0.38186	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.99	3.12	0.34986	1.079000	0.30378	3.938000	0.40583	-0.889000	0.02397	0.466000	0.26691	0.995000	0.32472	0.871000	0.41478	0.2119:0.7881:0.0:0.0	16.121	0.81166	952	0.10565	Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1354.98	36	chr10	125859758	.	C	T	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=840;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=-1.833e+00;SOR=0.577	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1369,0,1688	20	0	1	0
chr10	132202758	132202758	C	T	exonic	DPYSL4	.	nonsynonymous SNV	DPYSL4:NM_006426:exon12:c.C1394T:p.A465V,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.064	B	0.02	B	0.051	N	1.000	N	1.04	L	-0.77	T	-0.969	T	0.209	T	0.041	-0.261	2.748	2.22	0.952	1.630	8.996	0.071	0.040247359347	7.7e-05	.	5.909e-05	0.0002	0	0	0.0002	6.129e-05	0	0	4.53e-05	7	154602	rs146961857	2.191e-05	2.189e-05	1.908e-05	2.478e-05	0.0005	1.586e-05	1.357e-05	0.0001	7.55e-05	8.964e-05	0	0	0	0	0.0005	1.529e-05	0.0001	1.16e-05	7.882e-05	7.879e-05	8.988e-05	6.724e-05	0.0002	4.495e-05	3.511e-05	0.0001	9.933e-05	0.0002	0	0	0	0	0	0	2.94e-05	0	0	0.519	0.07283	T	0.536	0.09897	T	0.064	0.23455	B	0.02	0.19048	B	0.051320	0.22993	N	0.461406	1	0.08975	N	1.63	0.41750	L	-0.77	0.73523	T	-1.16	0.29727	N	0.262	0.29659	-0.9693	0.37345	T	0.209	0.56852	T	10	0.10536465	0.19471	T	0.040247	0.59269	D	0.071	0.20720	.	.	0.642944841451	0.63999	0.6627667693811404	0.66213	0.284517017937	0.30878	0.386804848909	0.23218	T	0.175434	0.52502	T	-0.376959	0.03256	T	-0.542584	0.18043	T	0.0217123085932806	0.00877	T	0.886111	0.61235	D	0.03079653	0.02804	0.03172122	0.01801	0.03079653	0.02804	0.03172122	0.01801	-5.658	0.43318	T	.	.	0.080	0.07602	B	.	.	2.607416	0.33856	19.46	0.81826981684612343	0.13879	0.12450	0.17276	N	AEFDBI	0.074022	0.14824	N	-0.89323559201199	0.11002	0.5286765	-0.918001991649903	0.11670	0.5959267	0.715102503306369	0.22865	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.13	2.22	0.27116	1.933000	0.39783	2.631000	0.33693	0.599000	0.40250	0.002000	0.15269	0.026000	0.21063	0.001000	0.02609	0.0:0.7526:0.0:0.2474	8.996	0.35214	994	0.00715	.	.	.	.	.	.	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	1918.98	38	chr10	132202758	.	C	T	1918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1141;ExcessHet=0.0000;FS=1.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=2.59;SOR=0.601	GT:AD:DP:GQ:PL	0/1:60,77:137:99:1933,0,1301	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	0/2:352,73,137:562:99:4570,2588,17221,0,11316,13888	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|3:356,0,58,65:479:99:0|1:1017461_G_T:1678,2741,17686,314,15262,15088,0,14948,12533,14750:1017461	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|3:356,0,58,64:478:99:0|1:1017461_G_T:1616,2687,17636,252,15200,15026,0,14948,12513,14756:1017461	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|2:357,60,64:481:99:0|1:1017461_G_T:1613,168,14978,0,12471,14798:1017461	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|2:354,62,64:480:84:0|1:1017461_G_T:1622,84,14762,0,12261,14672:1017461	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|2:351,59,64:474:99:0|1:1017461_G_T:1631,210,14771,0,12261,14546:1017461	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|2:360,58,64:482:99:0|1:1017461_G_T:1604,252,15193,0,12681,14924:1017461	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|3:364,0,55,64:483:99:0|1:1017461_G_T:1592,2687,17964,378,15650,15482,0,15280,12965,15092:1017461	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|2:376,54,64:494:99:0|1:1017461_G_T:1546,411,15994,0,13489,15721:1017461	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	0/2:374,60,64:498:99:.:.:1525,236,12487,0,10557,15762	0	0	15	2
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	0/1:298,151,64:513:99:.:.:3437,0,9702,2051,7927,16428	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|1:468,63,1:532:99:0|1:1017575_C_*:1222,0,19635,2596,19477,22061:1017575	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|1:472,63,0:535:99:0|1:1017575_C_*:1209,0,19840,2630,19608,22172:1017575	6	0	1	13
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	0/1:321,157,63:541:99:.:.:3541,0,10330,2275,8700,17959	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|1:569,74,0:643:99:0|1:1017463_TTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG_T:1033,0,23625,2745,23831,26577:1017463	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|1:569,74,0:643:99:0|1:1017463_TTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG_T:1033,0,23625,2745,23831,26577:1017463	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|1:569,74,0:643:99:0|1:1017463_TTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG_T:1033,0,23625,2745,23831,26577:1017463	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|1:569,74,0:643:99:0|1:1017463_TTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG_T:1033,0,23625,2745,23831,26577:1017463	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|1:569,74,0:643:99:0|1:1017463_TTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG_T:1033,0,23625,2745,23831,26577:1017463	7	0	4	9
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	0/1:416,148,0:564:99:.:.:2903,0,11396,4152,11838,15990	9	0	11	0
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	0/1:123,15,12:150:99:.:.:238,0,5105,129,4671,5565	5	0	15	0
chr11	1018227	1018227	-	GAGGTTTTG	exonic	MUC6	.	nonframeshift insertion	MUC6:NM_005961:exon31:c.4573_4574insCAAAACCTC:p.S1524_L1525insPKP,	.	.	407	1107	6	0	2	8	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199616524	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.072e-05	0.0009	2.702e-05	1.414e-05	6.925e-05	5.51e-06	2.53e-06	5.11e-06	1.91e-06	0	0	6.925e-05	0	0	0	0	3.08e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	76.19	174	chr11	1018227	.	A	AGAGGTTTTG,*	76.19	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=-3.980e-01;DP=3891;ExcessHet=0.3300;FS=0.901;InbreedingCoeff=-0.1200;MLEAC=1,2;MLEAF=0.028,0.056;MQ=56.92;MQRankSum=-6.414e+00;QD=0.13;ReadPosRankSum=-1.720e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/2:134,2,12:148:79:79,320,5940,0,5470,5884	15	0	1	3
chr11	1018227	1018227	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	76.19	174	chr11	1018227	.	A	AGAGGTTTTG,*	76.19	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=-3.980e-01;DP=3891;ExcessHet=0.3300;FS=0.901;InbreedingCoeff=-0.1200;MLEAC=1,2;MLEAF=0.028,0.056;MQ=56.92;MQRankSum=-6.414e+00;QD=0.13;ReadPosRankSum=-1.720e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/2:134,2,12:148:79:79,320,5940,0,5470,5884	15	0	1	3
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:133,12,13:158:36:.:.:136,36,5591,0,5057,5518	5	0	5	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	0/1:170,15,14:199:42:.:.:118,0,7093,42,6550,7138	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|1:2,141,0:143:99:1|1:1095948_C_G:5349,412,0,5354,423,5364:1095948	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|1:0,148,0,0:148:99:1|1:1095948_C_G:5684,444,0,5684,444,5684,5684,444,5684,5684:1095948	0	19	0	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:227,102,0:329:99:3104,0,8731,3786,9150,12936	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:227,102,0:329:99:.:.:3104,0,8731,3786,9150,12936	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	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	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:227,102,0:329:99:.:.:3104,0,8731,3786,9150,12936	1	0	17	1
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:195,102,6:303:99:.:.:3659,0,8143,3685,5177,8301	0	0	11	8
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	1/1:0,83,0:83:99:.:.:2520,247,0,2520,247,2520	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:6,0,2:8:5:.:.:69,77,87,0,11,5	1	0	1	12
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	1/1:0,9,0:9:27:282,27,0,282,27,282	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	0/1:115,17:132:99:.:.:381,0,4242	14	0	6	1
chr11	1097517	1097586	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	122.03	280	chr11	1097517	.	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	*,C	122.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.890e-01;DP=4451;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=50.11;MQRankSum=-6.312e+00;QD=0.28;ReadPosRankSum=2.03;SOR=0.749	GT:AD:DP:GQ:PL	0/2:169,0,20:189:99:136,644,7301,0,6657,6530	19	0	1	0
chr11	1097518	1097586	GGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	622	891	5	3	1	12	0.00613497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0045	0.0018	0.0030	0.0024	0.0023	0.0023	0.0023	0.0023	0.0024	0.0021	0.0018	0.0008	0.0052	0.0019	0.0024	0.0033	0.0019	4.707e-05	0.0008	1.834e-05	7.737e-05	8.495e-05	1.776e-05	1.199e-05	2.881e-05	1.734e-05	0	0	0	0	0	0.0002	0	8.495e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	122.03	280	chr11	1097517	.	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	*,C	122.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.890e-01;DP=4451;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=50.11;MQRankSum=-6.312e+00;QD=0.28;ReadPosRankSum=2.03;SOR=0.749	GT:AD:DP:GQ:PL	0/2:169,0,20:189:99:136,644,7301,0,6657,6530	19	0	1	0
chr11	1097520	1097520	T	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394082476	0.0051	0.0082	0.0050	0.0051	0.0055	0.0050	0.0049	0.0054	0.0053	0.0004	0.0026	0.0043	0	0.0160	0.0044	0.0055	0.0050	0.0016	0.0028	0.0060	0.0027	0.0030	0.0046	0.0025	0.0024	0.0040	0.0037	0.0005	0	0.0009	0.0038	0	0.0104	0	0.0046	0.0071	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.05263	149.78	280	chr11	1097520	.	T	G,*	149.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.167e+00;DP=4463;ExcessHet=0.1072;FS=0.823;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=33.60;MQRankSum=1.32;QD=0.62;ReadPosRankSum=-1.456e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/2:169,0,20:189:99:136,644,7301,0,6657,6530	17	0	1	2
chr11	1097520	1097520	T	0	exonic	MUC2	.	.	.	.	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	149.78	280	chr11	1097520	.	T	G,*	149.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.167e+00;DP=4463;ExcessHet=0.1072;FS=0.823;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=33.60;MQRankSum=1.32;QD=0.62;ReadPosRankSum=-1.456e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/2:169,0,20:189:99:136,644,7301,0,6657,6530	17	0	1	2
chr11	1097538	1097586	CCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.362e-05	7.074e-05	3.414e-05	3.308e-05	3.737e-05	2.516e-05	2.21e-05	2.665e-05	2.344e-05	0	0	0	2.997e-05	3.286e-05	0	3.737e-05	8.088e-05	0	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	202.03	280	chr11	1097537	.	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	C,*	202.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.41;DP=4097;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.32;MQRankSum=-6.900e+00;QD=0.47;ReadPosRankSum=-6.401e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:169,0,20:189:99:.:.:136,644,7301,0,6657,6530	19	0	1	0
chr11	1097537	1097586	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	202.03	280	chr11	1097537	.	CCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	C,*	202.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.41;DP=4097;ExcessHet=0.1072;FS=4.260;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.32;MQRankSum=-6.900e+00;QD=0.47;ReadPosRankSum=-6.401e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:169,0,20:189:99:.:.:136,644,7301,0,6657,6530	19	0	1	0
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3942.28	175	chr11	1097542	.	C	T,*	3942.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.89;DP=3986;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=53.25;MQRankSum=-9.900e-01;QD=7.17;ReadPosRankSum=-1.372e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:169,0,20:189:99:.:.:136,644,7301,0,6657,6530	18	0	2	0
chr11	1097542	1097542	C	0	exonic	MUC2	.	.	.	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3942.28	175	chr11	1097542	.	C	T,*	3942.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.89;DP=3986;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=53.25;MQRankSum=-9.900e-01;QD=7.17;ReadPosRankSum=-1.372e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:169,0,20:189:99:.:.:136,644,7301,0,6657,6530	18	0	2	0
chr11	1097560	1097564	AACGA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0034	0.0020	0.0022	0.0032	0.0020	0.0020	0.0020	0.0019	0.0024	0.0023	0.0035	0.0020	0.0085	0.0032	0.0018	0.0026	0.0023	0.0016	0.0013	0.0012	0.0020	0.0020	0.0013	0.0012	0.0016	0.0014	0.0013	0.0035	0.0018	0.0011	0.0016	0.0008	0	0.0020	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	49.03	172	chr11	1097559	.	CAACGA	C,*	49.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.02;DP=3902;ExcessHet=0.1072;FS=1.659;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.22;MQRankSum=-8.040e+00;QD=0.16;ReadPosRankSum=-3.922e+00;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:169,0,20:189:99:.:.:136,644,7301,0,6657,6530	19	0	1	0
chr11	1097559	1097564	CAACGA	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	49.03	172	chr11	1097559	.	CAACGA	C,*	49.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.02;DP=3902;ExcessHet=0.1072;FS=1.659;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.22;MQRankSum=-8.040e+00;QD=0.16;ReadPosRankSum=-3.922e+00;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:169,0,20:189:99:.:.:136,644,7301,0,6657,6530	19	0	1	0
chr11	1097560	1097560	A	0	exonic	MUC2	.	.	.	.	.	36	182	1	1	6	9	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	502.64	172	chr11	1097560	.	A	C,*	502.64	.	AC=3,2;AF=0.094,0.063;AN=32;BaseQRankSum=2.96;DP=3898;ExcessHet=0.0454;FS=0.723;InbreedingCoeff=0.1765;MLEAC=3,2;MLEAF=0.094,0.063;MQ=33.04;MQRankSum=0.067;QD=1.50;ReadPosRankSum=-2.820e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:169,0,20:189:99:.:.:136,644,7301,0,6657,6530	12	1	1	5
chr11	1097561	1097561	A	0	exonic	MUC2	.	.	.	.	.	747	760	8	1	6	16	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	70.26	172	chr11	1097561	.	A	*,T	70.26	.	AC=3,2;AF=0.125,0.083;AN=24;BaseQRankSum=-1.230e+00;DP=3863;ExcessHet=1.3000;FS=0.790;InbreedingCoeff=-0.1465;MLEAC=4,2;MLEAF=0.167,0.083;MQ=53.93;MQRankSum=-6.511e+00;QD=0.08;ReadPosRankSum=-2.930e+00;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,20,0:189:99:.:.:136,0,6530,644,6657,7301	7	0	3	9
chr11	1097563	1097563	G	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283237635	0.0067	0.0062	0.0063	0.0072	0.0186	0.0066	0.0065	0.0153	0.0140	0.0012	0.0033	0.0108	0.0003	0.0068	0.0186	0.0074	0.0061	0.0043	0.0032	0.0046	0.0031	0.0033	0.0055	0.0028	0.0026	0.0047	0.0044	0.0008	0.0049	0.0023	0.0065	0.0004	0.0014	0	0.0055	0.0082	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	0.1053	1930.44	172	chr11	1097563	.	G	A,*	1930.44	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=1.72;DP=3756;ExcessHet=0.0082;FS=1.823;InbreedingCoeff=0.2675;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.30;MQRankSum=-1.506e+00;QD=5.01;ReadPosRankSum=0.719;SOR=0.820	GT:AD:DP:GQ:PL	0/2:169,0,20:189:99:136,644,7301,0,6657,6530	16	1	0	2
chr11	1097563	1097563	G	0	exonic	MUC2	.	.	.	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1930.44	172	chr11	1097563	.	G	A,*	1930.44	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=1.72;DP=3756;ExcessHet=0.0082;FS=1.823;InbreedingCoeff=0.2675;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.30;MQRankSum=-1.506e+00;QD=5.01;ReadPosRankSum=0.719;SOR=0.820	GT:AD:DP:GQ:PL	0/2:169,0,20:189:99:136,644,7301,0,6657,6530	16	1	0	2
chr11	1097584	1097584	C	0	exonic	MUC2	.	.	.	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,20,0:189:99:.:.:136,0,6530,644,6657,7301	5	0	2	12
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,20,0:189:99:.:.:136,0,6530,644,6657,7301	5	0	2	12
chr11	1097586	1097586	T	0	exonic	MUC2	.	.	.	.	.	793	716	5	2	6	15	0.00624566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	34.69	172	chr11	1097586	.	T	*,C	34.69	.	AC=2,1;AF=0.100,0.050;AN=20;BaseQRankSum=2.33;DP=4017;ExcessHet=0.4139;FS=1.843;InbreedingCoeff=0.0053;MLEAC=3,2;MLEAF=0.150,0.100;MQ=54.85;MQRankSum=-8.086e+00;QD=0.06;ReadPosRankSum=3.06;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,20,0:189:99:.:.:136,0,6530,644,6657,7301	7	0	2	11
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	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	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,9,0:97:99:0|1:1097750_G_A:113,0,3585,378,3612,3990:1097750	13	0	4	3
chr11	1097805	1097805	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.542e-06	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	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,9,0:97:99:0|1:1097750_G_A:113,0,3585,378,3612,3990:1097750	13	0	4	3
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.0625	369.07	124	chr11	1098120	.	C	A	369.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.38;DP=2676;ExcessHet=0.1072;FS=2.287;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=36.93;MQRankSum=-3.180e-01;QD=1.62;ReadPosRankSum=-1.326e+00;SOR=0.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,10:104:99:0|1:1098120_C_A:130,0,3858:1098120	14	0	2	5
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1111	300.66	117	chr11	1098124	.	C	T	300.66	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.399;DP=2552;ExcessHet=0.1072;FS=2.458;InbreedingCoeff=-0.2353;MLEAC=4;MLEAF=0.222;MQ=35.88;MQRankSum=-6.880e-01;QD=1.42;ReadPosRankSum=-5.510e-01;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,9:94:99:0|1:1098120_C_A:122,0,3504:1098120	7	0	2	12
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|1:94,18,0:112:99:0|1:1098716_A_G:473,0,3800,755,3845,4595:1098716	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|1:96,15,0:111:99:0|1:1098716_A_G:341,0,3893,629,3929,4553:1098716	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|1:105,14,0:119:99:0|1:1098716_A_G:272,0,4309,587,4345,4929:1098716	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|2:104,5,14:123:99:0|1:1098716_A_G:272,433,4754,0,4183,4309:1098716	6	0	3	3
chr11	1098825	1098825	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	697.62	108	chr11	1098825	.	T	A,*	697.62	.	AC=4,2;AF=0.154,0.077;AN=26;BaseQRankSum=3.00;DP=3021;ExcessHet=1.7912;FS=0.664;InbreedingCoeff=-0.3114;MLEAC=5,3;MLEAF=0.192,0.115;MQ=36.82;MQRankSum=0.477;QD=0.77;ReadPosRankSum=-2.954e+00;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,8,0:108:35:0|1:1098716_A_G:35,0,4115,335,4140,4482:1098716	7	0	4	8
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	1/1:0,152,0:152:99:.:.:4743,454,0,3915,463,4324	0	15	0	0
chr11	1099851	1099851	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.002	B	.	.	1.000	N	0.345	N	3.27	T	-0.933	T	0.011	T	0.134	-1.821	0.009	-0.844	0.094	-1.678	4.571	0.012	0.012106942887	.	.	8.291e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs765730473	3.353e-05	3.352e-05	3.54e-05	3.164e-05	4.317e-05	2.567e-05	2.313e-05	3.344e-05	2.956e-05	0	0	0	0	0	0	4.317e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3689.98	43	chr11	1099851	.	C	G	3689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.429e+00;DP=1599;ExcessHet=0.0000;FS=1.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=1.35;SOR=0.609	GT:AD:DP:GQ:PL	0/1:155,152:307:99:3704,0,3993	20	0	1	0
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:453,0,123:576:99:0|1:1185018_A_C:3801,5165,24186,0,19021,18651:1185018	7	0	3	5
chr11	1233087	1233087	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon18:c.G2140T:p.G714C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.964	D	.	.	1.000	N	1.385	L	-2.73	D	-0.017	T	0.707	D	0.269	0.279	5.512	-4.25	-0.499	1.525	7.921	0.305	0.217444228226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	2.052e-06	1.368e-06	0	.	0	0	.	.	0	0	0	0	2.071e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	.	.	.	0.97	0.56973	D	0.79	0.57710	P	.	.	.	.	1	0.08975	N	1.79	0.46772	L	-2.73	0.90679	D	-2.92	0.61129	D	0.313	0.35301	-0.0169	0.81903	T	0.707	0.89933	D	9	0.22654334	0.39512	T	0.217444	0.87609	D	0.305	0.62620	.	.	0.206203607746	0.20212	0.9058611395536527	0.90559	.	.	0.424123942852	0.28404	T	0.133315	0.46392	T	0.0599127	0.59602	T	-0.151716	0.59091	T	0.589309096336365	0.35979	D	0.781422	0.41649	T	0.25329432	0.48351	0.20075594	0.44023	0.25329432	0.48351	0.20075594	0.44022	-7.421	0.57052	T	.	.	0.429	0.61130	A	.	.	1.375924	0.17868	13.41	0.79341005134608811	0.12698	0.00796	0.03248	N	AEFDBHI	0.098871	0.19913	N	-0.473528752376496	0.22951	1.229067	-0.740716702087102	0.15951	0.8414552	0.0278558632417337	0.13798	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.86	-4.25	0.03508	1.467000	0.34930	-0.195000	0.11000	0.614000	0.49286	0.019000	0.19563	0.000000	0.08366	0.023000	0.12082	0.1544:0.0:0.2788:0.5668	7.921	0.29010	970	0.06235	Trypsin Inhibitor-like, cysteine rich 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	856.98	38	chr11	1233087	.	G	T	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=857;ExcessHet=0.0000;FS=1.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.24;ReadPosRankSum=1.30;SOR=0.527	GT:AD:DP:GQ:PL	0/1:64,40:104:99:871,0,1600	20	0	1	0
chr11	1248327	1248327	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11447T:p.T3816M,	.	.	434	1079	9	0	0	9	0.00415321	.	.	2227925	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.987	D	0.64	P	.	.	1.000	N	1.975	M	2.27	T	-1.059	T	0.054	T	0.096	0.259	5.398	-5.39	-0.895	-0.690	2.469	0.066	0.00485645972326	.	0.00139776	0.0016	0.0002	0.0010	0.0015	0.0029	0.0018	0.0012	0.0016	0.0001229	19	154602	rs201948297	0.0028	0.0030	0.0029	0.0027	0.0066	0.0027	0.0027	0.0050	0.0044	0.0005	0.0017	0.0027	0.0007	0.0016	0.0066	0.0031	0.0025	0.0018	0.0016	0.0017	0.0015	0.0017	0.0023	0.0014	0.0014	0.0020	0.0019	0.0004	0	0.0022	0.0017	0.0004	0.0018	0.0034	0.0023	0.0024	0.0011	0.197	0.20607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.09	0.20122	T	-0.5	0.15782	N	0.028	0.00618	-1.0589	0.12032	T	0.054	0.22959	T	9	0.008440405	0.00191	T	0.004856	0.12161	T	0.066	0.19193	.	.	0.043077524339	0.03247	0.27986162754402993	0.27899	.	.	0.191385239363	0.00250	T	0.035321	0.23671	T	-0.6685	0.00056	T	-0.739815	0.03898	T	0.0207374325317446	0.00773	T	0.368563	0.08641	T	0.013436387	0.00059	0.026994731	0.00822	0.013436387	0.00059	0.026994731	0.00822	-8.743	0.66027	D	.	.	0.115	0.23183	B	.	.	-0.150960	0.03351	0.592	0.49371029527055171	0.04199	0.02152	0.06328	N	AEFI	0.052130	0.09276	N	-0.686384343782334	0.16408	0.8357438	-1.00506885666809	0.09673	0.482642	3.11286626288464E-4	0.06498	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.01	-5.39	0.02457	-3.773000	0.00416	-7.730000	0.01097	-3.191000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2768:0.3513:0.273:0.0989	2.469	0.04281	958	0.09170	.	.	.	.	.	.	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	380.98	75	chr11	1248327	.	C	T	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=1461;ExcessHet=0.0000;FS=24.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.32;MQRankSum=-3.745e+00;QD=3.63;ReadPosRankSum=3.95;SOR=1.761	GT:AD:DP:GQ:PL	0/1:77,28:105:99:395,0,2169	20	0	1	0
chr11	1248372	1248372	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11492T:p.A3831V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.207	B	0.111	B	.	.	1.000	N	1.295	L	2.36	T	-1.010	T	0.042	T	0.079	0.686	7.667	0.616	0.237	-1.758	7.689	0.006	0.00121889163949	.	.	0.0006	0.0001	0.0034	0.0003	0.0006	0.0003	0	0.0002	6.5e-06	1	154602	rs199586219	0.0003	0.0007	0.0003	0.0003	0.0019	0.0003	0.0003	0.0014	0.0012	0.0003	0.0017	0.0002	0.0002	0.0004	0.0019	0.0002	0.0004	0.0002	0.0004	0.0007	0.0005	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	0.0005	0	0.0006	0.0006	0.0002	9.588e-05	0.0034	0.0004	0	0.0004	0.51	0.07497	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.17	0.19020	T	-0.17	0.09627	N	0.014	0.00160	-1.0097	0.27012	T	0.042	0.17869	T	9	0.011316478	0.00248	T	0.001219	0.01608	T	0.006	0.00375	.	.	0.043077524339	0.03247	0.1818541254700433	0.18104	.	.	0.174305215478	0.00052	T	0.036198	0.24012	T	-0.354178	0.04470	T	-0.746529	0.03623	T	0.00457457471139263	0.00049	T	0.291471	0.05330	T	0.018547935	0.00377	0.036938038	0.03242	0.018547935	0.00376	0.036938038	0.03241	-0.572	0.00629	T	.	.	0.103	0.18497	B	.	.	-0.035196	0.04045	0.935	0.67230953212728517	0.08293	0.02297	0.06607	N	AEFI	0.045591	0.07473	N	-0.99025520339052	0.08811	0.4145676	-1.13315455608529	0.07074	0.342763	2.03380709558814E-4	0.05948	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.6	0.616	0.16789	0.517000	0.22539	0.042000	0.13882	-0.652000	0.04383	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7342:0.2658:0.0	7.689	0.27725	958	0.09170	.	.	.	.	.	.	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	62.98	75	chr11	1248372	.	C	T	62.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.118;DP=1435;ExcessHet=0.0000;FS=44.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.91;MQRankSum=-2.890e+00;QD=0.47;ReadPosRankSum=-1.350e-01;SOR=5.281	GT:AD:DP:GQ:PL	0/1:121,13:134:77:77,0,4418	20	0	1	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	0/1:18,17:35:99:449,0,524	19	0	2	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,84,0:153:99:.:.:2998,0,2414,3206,2676,5882	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,84,0:153:99:.:.:2998,0,2414,3206,2676,5882	11	0	8	0
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	0/2:69,0,84:153:99:.:.:2998,3206,5882,0,2676,2414	3	3	5	0
chr11	3731470	3731470	T	C	exonic	NUP98	.	nonsynonymous SNV	NUP98:NM_001365129:exon13:c.A1510G:p.T504A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.001	B	0.002	B	0.000	N	0.991	N	0.485	N	.	.	-1.005	T	0.051	T	0.137	0.950	8.876	4.42	0.946	1.906	7.998	0.057	0.00141440645871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464877132	1.579e-05	1.642e-05	1.093e-05	2.071e-05	1.893e-05	1.052e-05	8.79e-06	1.216e-05	1.032e-05	0	0	0	0	0	0	1.893e-05	3.323e-05	0	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	0.356	0.12070	T	0.54	0.12668	T	0.001	0.07471	B	0.002	0.06944	B	0.000137	0.49741	N	0.183269	0.990601	0.24149	N	-0.345	0.03330	N	.	.	.	-0.14	0.09796	N	0.084	0.10056	-1.0054	0.28337	T	0.051	0.21533	T	9	0.04568118	0.03668	T	0.001414	0.02088	T	0.074	0.21613	0.145	0.04843	0.174091166621	0.17034	0.2290657622806023	0.22821	0.186280126932	0.20939	0.535473644733	0.43805	T	0.038426	0.24835	T	-0.199592	0.20863	T	-0.524476	0.19841	T	0.0425102818968834	0.04149	T	0.779122	0.41282	T	0.061436575	0.12722	0.10668686	0.25671	0.061436575	0.12722	0.10668686	0.25670	-6.048	0.46753	T	.	.	0.056	0.00658	B	.;.;.;.;.	.;.;.;.;.	2.458581	0.31669	18.81	0.86235986046314872	0.16402	0.85787	0.44959	D	AEFDGBI	0.105441	0.21067	N	-0.506617924084914	0.21866	1.163518	-0.287142160938435	0.28522	1.590914	0.796030726159292	0.24101	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	4.42	0.52775	1.903000	0.39488	3.460000	0.38507	0.609000	0.47794	0.965000	0.33920	1.000000	0.68203	0.996000	0.76049	0.0:0.1743:0.0:0.8257	7.998	0.29438	538	0.73119	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1108.98	35	chr11	3731470	.	T	C	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.351e+00;DP=828;ExcessHet=0.0000;FS=2.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=-6.540e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1123,0,1475	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	1/2:0,43,30,0,0,0:73:99:.:.:2377,1223,1268,1232,0,1505,2457,1322,1461,2706,2457,1322,1461,2706,2706,2457,1322,1461,2706,2706,2706	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	1/2:0,43,30,0,0,0:73:99:.:.:2377,1223,1268,1232,0,1505,2457,1322,1461,2706,2457,1322,1461,2706,2706,2457,1322,1461,2706,2706,2706	0	5	0	0
chr11	6538718	6538718	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon16:c.G3233A:p.R1078H,	.	.	.	.	.	.	.	.	.	.	.	2428193	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.056	B	0.016	B	.	.	0.989	N	0	N	0.11	T	-1.022	T	0.078	T	0.162	1.490	10.93	-0.893	0.013	-0.394	9.324	0.025	0.0122951806365	.	0.000199681	0.0003	0	0	0.0019	0	0.0002	0	0.0003	5.82e-05	9	154602	rs371752828	5.152e-05	5.13e-05	3.952e-05	6.387e-05	0.0003	4.176e-05	3.838e-05	0.0002	0.0002	0.0001	0	3.977e-05	0.0002	0	0	1.763e-05	0.0003	0.0003	6.565e-05	6.561e-05	3.854e-05	9.397e-05	0.0010	3.513e-05	2.614e-05	0.0004	0.0003	2.406e-05	0	0	0	0.0006	0	0	1.47e-05	0	0.0010	0.569	0.06204	T	0.0	0.92824	D	0.056	0.22806	B	0.016	0.17743	B	.	.	.	.	0.999653	0.20771	N	0.205	0.09354	N	0.11	0.61208	T	-0.59	0.17624	N	0.136	0.13341	-1.0220	0.23063	T	0.078	0.30982	T	9	0.0077114403	0.00175	T	0.012295	0.30730	T	0.025	0.05312	0.435	0.48664	0.233785782151	0.22967	0.06074189850731075	0.06014	0.156989701927	0.17727	0.238761171699	0.02680	T	0.031505	0.22070	T	-0.405213	0.02140	T	-0.483578	0.24067	T	0.0206664675509117	0.00766	T	0.570043	0.20293	T	0.026347315	0.01680	0.043153014	0.05303	0.026347315	0.01680	0.043153014	0.05303	-3.891	0.22167	T	.	.	0.078	0.06849	B	.;.	.;.	0.645004	0.10137	6.879	0.94415692412414165	0.24817	0.03000	0.07863	N	AEFDBI	0.036273	0.04807	N	-0.921360789886201	0.10344	0.4938141	-0.828505707898611	0.13806	0.7181492	0.997718022459209	0.35940	0.634777	0.41761	0	0.643519	0.57511	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.46	-0.893	0.10031	-0.178000	0.09775	-5.860000	0.01572	0.676000	0.76740	0.008000	0.17931	0.000000	0.08366	0.862000	0.40904	0.487:0.0:0.513:0.0	9.324	0.37141	457	0.78953	Dynein heavy chain, domain-2;Dynein heavy chain, domain-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	1	0	0	0	0.02381	1249.98	35	chr11	6538718	.	G	A	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.919e+00;DP=811;ExcessHet=0.0000;FS=1.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=2.12;SOR=0.463	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1264,0,1327	20	0	1	0
chr11	7488155	7488155	C	T	exonic	OLFML1	.	nonsynonymous SNV	OLFML1:NM_001370501:exon2:c.C158T:p.T53M	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.893	P	0.007	N	1.000	D	1.935	M	-2.37	D	0.486	D	0.695	D	0.352	6.030	37	5.76	2.727	1.470	15.468	0.381	0.0744318907498	0.0035	0.00119808	0.0033	0.0003	0.0022	0.0001	0.0018	0.0050	0.0044	0.0014	0.003357	519	154602	rs141351486	0.0039	0.0040	0.0039	0.0040	0.0047	0.0039	0.0038	0.0046	0.0045	0.0004	0.0019	0.0005	7.577e-05	0.0023	0.0009	0.0047	0.0025	0.0019	0.0029	0.0029	0.0031	0.0027	0.0050	0.0027	0.0026	0.0046	0.0044	0.0006	0	0.0018	0	0.0002	0.0024	0	0.0050	0.0014	0.0029	0.006	0.61437	D	0.118	0.36233	T	0.999	0.77913	D	0.893	0.63340	P	0.007169	0.31557	N	0.312904	0.90867	0.81001	D	2.3	0.65703	M	-2.37	0.88220	D	-1.57	0.37955	N	0.138	0.13626	0.486	0.90353	D	0.695	0.89499	D	10	0.0083782375	0.00190	T	0.074432	0.72040	D	0.381	0.69863	.	.	0.834664510851	0.83308	0.4450700977327562	0.44425	0.0302393628944	0.03118	0.390642702579	0.23760	T	0.005727	0.05178	T	-0.157893	0.27084	T	0.00261665	0.70505	D	0.0119953741734701	0.00189	T	0.718628	0.33152	T	0.059298266	0.12034	0.11526132	0.27824	0.059298266	0.12033	0.11526132	0.27823	-6.094	0.47059	T	.	.	0.151	0.33435	B	.;.	.;.	3.540780	0.49724	22.8	0.99706995143598653	0.81074	0.44276	0.27283	N	AEFBI	0.803421	0.72857	D	0.533007235476481	0.69054	5.302826	0.5033264236078	0.68216	5.189223	0.999999886065036	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.76	5.76	0.90726	1.800000	0.38469	2.234000	0.31556	0.599000	0.40250	0.595000	0.27706	0.978000	0.30204	0.959000	0.51448	0.0:1.0:0.0:0.0	15.468	0.75146	783	0.47268	.;.	.	.	.	.	.	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	999.98	35	chr11	7488155	.	C	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.070e-01;DP=775;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.261;SOR=0.478	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1014,0,747	20	0	1	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	20646.17	38	chr11	12294842	.	A	C,*	20646.17	.	AC=13,3;AF=0.382,0.088;AN=34;BaseQRankSum=1.48;DP=1943;ExcessHet=0.0321;FS=0.000;InbreedingCoeff=0.1821;MLEAC=15,3;MLEAF=0.441,0.088;MQ=59.98;MQRankSum=0.00;QD=20.18;ReadPosRankSum=1.33;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,58,6:65:56:1|0:12294839_CCTA_C:2726,269,56,1855,0,2188:12294839	6	2	6	4
chr11	17645766	17645766	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon55:c.G8600A:p.G2867E	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	U	1.000	D	2.35	M	-0.26	T	0.027	D	0.470	T	0.96	4.748	26.5	5.03	2.349	9.041	18.390	0.784	0.363220153986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs907875442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	0.000027	0.55875	U	0.000000	1	0.81001	D	2.19	0.61577	M	-0.38	0.69027	T	-7.03	0.93810	D	0.958	0.96758	0.027	0.82784	D	0.470	0.79615	T	8	0.9312945	0.92467	D	0.36322	0.92564	D	0.784	0.92827	0.762	0.89053	0.517047913619	0.51347	0.8224564286535236	0.82202	.	.	0.848792076111	0.89432	D	0.645381	0.89174	D	0.339774	0.85819	D	0.250286	0.85633	D	0.996150612831116	0.88774	D	0.928407	0.73561	D	0.84891707	0.87256	0.8922011	0.94423	0.84891707	0.87257	0.8922011	0.94423	-11.867	0.84197	D	.	.	0.996	0.95940	P	.;.	.;.	5.076338	0.84698	28.4	0.9975164426379437	0.84305	0.98439	0.82789	D	AEFBI	0.899083	0.84308	D	0.560327656848576	0.70714	5.542132	0.589398487875803	0.74179	6.093086	0.999999999363928	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	9.163000	0.93904	11.713000	0.94685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.390	0.90422	686	0.59327	Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, 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	0.02381	2484.98	125	chr11	17645766	.	G	A	2484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=1021;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=0.341;SOR=0.712	GT:AD:DP:GQ:PL	0/1:128,98:226:99:2499,0,3319	20	0	1	0
chr11	30495338	30495338	G	A	exonic	MPPED2	.	nonsynonymous SNV	MPPED2:NM_001145399:exon4:c.C494T:p.S165L	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.997	D	0.000	D	1.000	D	3.085	M	1.24	T	-0.441	T	0.304	T	0.887	4.915	28.4	5.61	2.650	9.869	19.643	0.485	0.0525054662897	0.0003	0.000798722	0.0006	0.0004	0.0049	0.0003	0	5.994e-05	0.0011	0.0004	0.0005692	88	154602	rs144495334	0.0003	0.0003	0.0003	0.0003	0.0057	0.0003	0.0002	0.0052	0.0049	2.987e-05	0.0057	0	0.0010	1.872e-05	0.0003	6.116e-05	0.0003	0.0002	0.0005	0.0005	0.0005	0.0006	0.0036	0.0004	0.0004	0.0028	0.0026	0.0002	0	0.0036	0	0.0015	0	0	0.0001	0	0.0004	0.001	0.78490	D	0.015	0.62352	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	1.24	0.36691	T	-4.53	0.78388	D	0.909	0.91968	-0.4414	0.70683	T	0.304	0.67538	T	10	0.053617626	0.05581	T	0.052505	0.65097	D	0.485	0.77399	.	.	0.263709349026	0.25991	0.8058972692396706	0.80544	1.63655336071	0.89319	0.850828528404	0.89741	D	0.788106	0.94468	D	-0.0563512	0.43475	T	0.148198	0.80071	D	0.0942263037873719	0.11709	T	0.952405	0.81824	D	0.62661314	0.74117	0.5587524	0.74473	0.62661314	0.74118	0.5587524	0.74474	-13.124	0.93130	D	.	.	0.258	0.49255	B	.;.	.;.	6.068400	0.94484	34	0.99920090035580578	0.98721	0.99105	0.91299	D	AEFDBI	0.942453	0.94706	D	0.99601972041454	0.95620	13.79702	0.952734524991619	0.97485	16.21001	0.999999999988394	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	10.003000	0.99689	11.816000	0.97088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.643	0.95759	713	0.56348	.;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3160.98	33	chr11	30495338	.	G	A	3160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.946;DP=931;ExcessHet=0.0000;FS=1.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-4.890e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/1:113,122:235:99:3175,0,2727	20	0	1	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	0/3:11,5,0,15:31:59:270,153,684,318,552,655,0,59,202,107	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	0/3:11,5,0,15:31:59:270,153,684,318,552,655,0,59,202,107	0	0	0	0
chr11	33606778	33606778	A	C	exonic	KIAA1549L	.	nonsynonymous SNV	KIAA1549L:NM_012194:exon14:c.A5017C:p.T1673P,	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.007	B	0.01	B	0.093	N	1.000	N	1.04	L	.	.	-1.079	T	0.048	T	0.342	1.172	9.769	-7.46	-1.359	1.323	3.938	0.130	0.00277276727028	0.0002	0.000599042	0.0012	0.0001	0.0014	0	0	0.0014	0	0.0019	0.0008732	135	154602	rs199776321	0.0008	0.0008	0.0007	0.0009	0.0123	0.0007	0.0007	0.0100	0.0092	0.0008	0.0010	0.0137	0	0	0.0123	0.0003	0.0021	0.0017	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0006	0.0004	0.0002	0	0.0009	0.0118	0	0	0.0102	0.0004	0.0005	0.0008	0.284	0.15303	T	0.152	0.32249	T	.	.	.	.	.	.	0.093459	0.20223	N	0.556859	1	0.08975	N	0.11	0.08516	N	.	.	.	-0.14	0.09135	N	0.141	0.14054	-1.0785	0.07641	T	0.048	0.20434	T	9	0.0030603409	0.00050	T	0.002773	0.05752	T	0.130	0.35528	.	.	0.0846915920261	0.08053	0.14824664572716612	0.14746	0.226095506065	0.25162	0.281315803528	0.07677	T	0.025846	0.19245	T	-0.438906	0.01313	T	-0.409401	0.32295	T	0.000340188431040199	0.00003	T	0.527447	0.17405	T	0.056069683	0.10981	0.06587879	0.13414	0.056069683	0.10981	0.06587879	0.13413	-2.616	0.06625	T	.	.	0.056	0.01470	B	.;.	.;.	0.343854	0.07174	3.759	0.75016758292641461	0.10914	0.19262	0.20592	N	AEFBI	0.190347	0.31758	N	-1.31153977468518	0.03542	0.1584078	-1.37334065366999	0.03538	0.165257	0.687568234478271	0.22551	0.706548	0.73137	0	0.670034	0.63936	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.43	-7.46	0.01225	1.067000	0.30227	0.031000	0.13732	-0.133000	0.13014	0.157000	0.23755	0.000000	0.08366	0.416000	0.27139	0.1052:0.1132:0.4511:0.3305	3.938	0.08811	669	0.61081	.;.	.	.	.	.	.	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	735.98	33	chr11	33606778	.	A	C	735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-1.027e+00;SOR=0.772	GT:AD:DP:GQ:PL	0/1:26,30:56:99:750,0,594	20	0	1	0
chr11	34133036	34133036	A	G	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon14:c.A1412G:p.N471S	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.987	D	0.000	D	1.000	D	2.37	M	1.25	T	-0.703	T	0.217	T	0.115	4.334	22.8	4.5	0.968	7.512	11.716	0.332	0.0255008910487	0.0009	0.000399361	0.0002	0.0019	0.0003	0	0	2.998e-05	0	0.0001	0.000194	30	154602	rs149555377	8.346e-05	8.345e-05	9.394e-05	7.288e-05	0.0015	7.136e-05	6.685e-05	0.0011	0.0010	0.0015	0.0002	3.826e-05	0.0001	0	0.0002	3.777e-05	0.0001	8.116e-05	0.0005	0.0005	0.0005	0.0005	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0	0	0	0	0	8.824e-05	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	1.25	0.36512	T	-4.51	0.78222	D	0.358	0.39962	-0.7031	0.60290	T	0.217	0.57863	T	10	0.08174348	0.13415	T	0.025501	0.48466	D	0.332	0.65424	.	.	0.522875369128	0.51932	0.6723916896434081	0.67177	0.464639868286	0.45926	0.527358293533	0.42662	T	0.414645	0.76814	T	-0.450535	0.01121	T	-0.426415	0.30343	T	0.166019632683585	0.18305	T	0.950605	0.81072	D	0.531735	0.68929	0.5396374	0.73394	0.531735	0.68930	0.5396374	0.73395	-10.575	0.77277	D	.	.	0.135	0.41557	B	.;.;.	.;.;.	3.593129	0.50711	23.0	0.99881019574183427	0.95733	0.98708	0.85845	D	AEFBI	0.899200	0.84333	D	0.662143530271264	0.77157	6.620911	0.608328937287298	0.75545	6.329292	0.990929220664812	0.32314	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.5	0.54382	7.498000	0.80396	1.998000	0.30109	0.756000	0.94297	1.000000	0.71638	0.500000	0.25199	0.956000	0.50813	0.9308:0.0:0.0692:0.0	11.716	0.50921	333	0.86326	GNAT domain;.;GNAT 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	2407.98	40	chr11	34133036	.	A	G	2407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=1243;ExcessHet=0.0000;FS=4.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.107;SOR=1.022	GT:AD:DP:GQ:PL	0/1:107,94:201:99:2422,0,2667	20	0	1	0
chr11	34167970	34167970	G	A	exonic	ABTB2	.	nonsynonymous SNV	ABTB2:NM_145804:exon6:c.C1586T:p.A529V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	2.54	M	-0.67	T	0.243	D	0.563	D	0.947	4.417	23.4	5.03	2.329	9.869	18.351	0.764	0.217777810377	.	.	2.493e-05	0	0	0	0	4.525e-05	0	0	2.59e-05	4	154602	rs764089581	1.026e-05	1.026e-05	8.168e-06	1.238e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	2.59	0.75718	M	-0.67	0.72458	T	-3.52	0.68412	D	0.934	0.93959	0.243	0.86628	D	0.563	0.84114	D	10	0.8966032	0.89015	D	0.217778	0.87625	D	0.764	0.92004	.	.	0.880139730637	0.87896	0.9067367156958642	0.90646	0.657197582544	0.58683	0.794866919518	0.81182	T	0.241774	0.61038	T	0.303805	0.83271	D	0.306276	0.88485	D	0.929013788700104	0.59282	D	0.995	0.98400	D	0.7040845	0.78280	0.6437883	0.79179	0.7040845	0.78282	0.6437883	0.79180	-10.841	0.78778	D	.	.	0.828	0.78606	P	.	.	4.914213	0.80885	27.4	0.99922686417028017	0.98852	0.99122	0.91549	D	AEFDGBI	0.923587	0.90029	D	0.77835847062695	0.84735	8.371413	0.700519280654167	0.82416	7.761972	0.999999999999999	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	10.003000	0.99689	11.815000	0.97057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.0:0.0:1.0:0.0	18.351	0.90280	429	0.80881	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2483.98	34	chr11	34167970	.	G	A	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=909;ExcessHet=0.0000;FS=3.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.268;SOR=0.506	GT:AD:DP:GQ:PL	0/1:95,97:192:99:2498,0,2392	20	0	1	0
chr11	43798364	43798364	G	T	exonic	HSD17B12	.	nonsynonymous SNV	HSD17B12:NM_016142:exon4:c.G328T:p.A110S,	.	.	.	.	.	.	.	.	.	.	.	2222041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.96	T	0.001	B	0.006	B	0.331	N	0.995	N	-0.475	N	0.82	T	-0.624	T	0.344	T	0.112	-2.193	0.005	-4.49	-1.968	-0.351	7.003	0.192	0.0587749261476	.	.	1.651e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs374709974	1.781e-05	1.779e-05	1.09e-05	2.478e-05	0.0002	1.239e-05	1.053e-05	4.088e-05	2.665e-05	0.0001	4.482e-05	0	0	0	0.0002	7.201e-06	6.631e-05	8.126e-05	1.315e-05	1.314e-05	0	2.691e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	0	0.0005	0	1.0	0.04289	T	1.0	0.04029	T	0.001	0.07471	B	0.006	0.12133	B	0.331414	0.14108	N	0.701358	1	0.08975	N	0.08	0.08321	N	0.82	0.92457	T	1.17	0.01664	N	0.203	0.22486	-0.6238	0.63831	T	0.344	0.70916	T	10	0.02707839	0.00860	T	0.058775	0.67435	D	0.192	0.47115	.	.	0.349429436713	0.34558	0.5575696856345499	0.55683	0.238141893923	0.26361	0.233509257436	0.02238	T	0.174216	0.52336	T	-0.260539	0.12836	T	-0.375354	0.36265	T	0.00410560648896651	0.00044	T	0.766023	0.39401	T	0.017317273	0.00263	0.029979907	0.01398	0.017317273	0.00263	0.029979907	0.01398	-2.659	0.06965	T	.	.	0.082	0.10304	B	.;.;.	.;.;.	-1.444638	0.00330	0.006	0.2467333010467983	0.01102	0.04305	0.09854	N	AEFDBI	0.093515	0.18919	N	-2.06590474048733	0.00152	0.006510806	-2.05001706348108	0.00239	0.01053993	0.987685375625619	0.31320	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.09	-4.49	0.03257	-0.582000	0.05907	-1.851000	0.04612	-2.178000	0.00363	0.016000	0.19238	0.000000	0.08366	0.024000	0.12247	0.4818:0.0:0.3739:0.1443	7.003	0.24000	692	0.58729	.;.;.	.	.	.	.	.	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	1391.98	33	chr11	43798364	.	G	T	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.410e-01;DP=804;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-2.618e+00;SOR=0.670	GT:AD:DP:GQ:PL	0/1:64,59:123:99:1406,0,1544	20	0	1	0
chr11	46347720	46347720	-	CGTCCAGCGGCTC	exonic	DGKZ	.	frameshift insertion	DGKZ:NM_001199266:exon1:c.61_62insCGTCCAGCGGCTC:p.E26Vfs*133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	57.94	23	chr11	46347720	.	T	TCGTCCAGCGGCTC	57.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e-01;DP=531;ExcessHet=0.0000;FS=2.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.60;MQRankSum=-4.389e+00;QD=2.76;ReadPosRankSum=2.27;SOR=0.932	GT:AD:DP:GQ:PL	0/1:18,3:21:72:72,0,727	20	0	1	0
chr11	47349804	47349804	C	G	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon5:c.G624C:p.Q208H,	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	YES	1	1518	2	1	0	4	0.00131579	.	.	51945	not_specified|Cardiovascular_phenotype|Cardiomyopathy|not_provided|Left_ventricular_noncompaction_10|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_4	MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	2.75	M	-0.31	T	0.213	D	0.534	D	0.909	4.439	23.6	4.8	2.385	3.328	18.212	0.613	0.274588298659	0.0004	.	0.0002	0	0	0	0	0.0003	0.0012	0	0.0001423	22	154602	rs202139499	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	2.988e-05	0	0.0049	0	0	0.0024	1.349e-05	0.0003	2.324e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	1.972e-05	1.124e-05	2.404e-05	0	0	0.0058	0	0	0.0136	5.879e-05	0	0.0002	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.47	0.71715	M	-0.31	0.68030	T	-3.94	0.73378	D	0.932	0.93723	0.213	0.86124	D	0.534	0.82757	D	9	0.17741412	0.32775	T	0.274588	0.90007	D	0.613	0.84879	0.51	0.60693	0.919661246558	0.91885	0.7024127926520404	0.70182	0.803777723304	0.66371	0.613187491894	0.54766	T	0.621553	0.88145	D	0.163679	0.70541	D	0.18902	0.82512	D	0.312912847421033	0.25533	T	0.886911	0.61435	D	0.44138905	0.63492	0.5282706	0.72745	0.55306375	0.70127	0.4735367	0.69485	-7.626	0.58492	D	0.7603870661206449	0.84221	0.339	0.70276	B	.;.;.	.;.;.	2.922653	0.38803	20.8	0.99713173107143882	0.81493	0.96663	0.70280	D	AEFDGBI	0.917420	0.88501	D	0.651018964258453	0.76436	6.485945	0.568237069518269	0.72677	5.847478	0.99999999999999	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	2.782000	0.47445	0.841000	0.22043	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.337000	0.25363	0.0:1.0:0.0:0.0	18.212	0.89810	18	0.98631	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	33	chr11	47349804	.	C	G	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.148e+00;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=1.72;SOR=0.597	GT:AD:DP:GQ:PL	0/1:33,41:74:99:995,0,855	20	0	1	0
chr11	55888207	55888207	G	A	exonic	TRIM51	.	nonsynonymous SNV	TRIM51:NM_032681:exon4:c.G683A:p.G228E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.303	B	0.085	B	.	.	1.000	N	1.53	L	3.7	T	-0.941	T	0.009	T	0.098	-2.024	0.006	-0.646	-0.155	0.207	3.151	0.014	0.000989934768874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.12246	T	0.303	0.32643	B	0.085	0.29395	B	.	.	.	.	1	0.08975	N	1.275	0.32135	L	3.7	0.04079	T	-0.24	0.36189	N	0.05	0.03841	-0.9412	0.42426	T	0.009	0.03403	T	9	0.044476718	0.03409	T	9.9E-4	0.01050	T	0.014	0.01968	0.346	0.34112	0.124217242631	0.12060	0.05937135007338447	0.05877	0.185589099654	0.20870	0.533439993858	0.43520	T	0.005372	0.04821	T	-0.368282	0.03682	T	-0.766788	0.02875	T	0.0818083356579155	0.10218	T	0.492351	0.18877	T	0.04562816	0.07501	0.06680091	0.13734	0.04562816	0.07501	0.06680091	0.13734	-3.587	0.17669	T	.	.	0.128	0.27192	B	.;.	.;.	-0.233524	0.02923	0.426	0.21573073719521005	0.00828	0.00042	0.00346	N	AEFI	0.024269	0.01474	N	-1.13034707264578	0.06109	0.2803565	-1.26178230555701	0.04959	0.2351719	1.17597556729356E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.757	-0.646	0.10895	-0.153000	0.10130	-4.875000	0.01946	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3738:0.0:0.6262:0.0	3.151	0.06099	163	0.93656	.;.	.	.	.	.	.	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	965.98	34	chr11	55888207	.	G	A	965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=773;ExcessHet=0.0000;FS=1.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-9.120e-01;SOR=0.969	GT:AD:DP:GQ:PL	0/1:38,39:77:99:980,0,934	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|2:181,0,19:200:99:0|1:56375926_G_A:253,798,8398,0,7600,7543:56375926	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|2:181,0,19:200:99:0|1:56375926_G_A:253,798,8398,0,7600,7543:56375926	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|2:181,0,19:200:99:0|1:56375926_G_A:253,798,8398,0,7600,7543:56375926	1	0	3	1
chr11	60869160	60869160	G	A	exonic	ZP1	.	nonsynonymous SNV	ZP1:NM_207341:exon2:c.G212A:p.R71Q,	Oocyte maturation defect 1, Autosomal recessive	.	149	1343	27	3	0	33	0.0121368	.	.	2224241	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.01	B	0.001	B	0.813	N	1.000	N	1.735	L	1.91	T	-1.001	T	0.033	T	0.093	0.413	6.245	-5.18	-0.989	-1.374	7.474	0.027	0.00510725465637	0.0040	0.00319489	0.0033	0.0027	0.0021	0.0002	0.0005	0.0036	0.0022	0.0060	0.0032341	500	154602	rs140966353	0.0036	0.0036	0.0035	0.0037	0.0123	0.0035	0.0035	0.0100	0.0092	0.0023	0.0026	0.0072	5.038e-05	0.0003	0.0123	0.0036	0.0043	0.0056	0.0029	0.0029	0.0028	0.0030	0.0046	0.0027	0.0026	0.0032	0.0030	0.0025	0	0.0041	0.0078	0	0.0006	0.0102	0.0031	0.0038	0.0046	0.279	0.15561	T	0.331	0.18505	T	0.01	0.15535	B	0.001	0.04355	B	0.813309	0.09234	N	0.892825	1	0.08975	N	0.46	0.12951	N	1.91	0.23283	T	-0.35	0.12847	N	0.314	0.35408	-1.0011	0.29602	T	0.033	0.14029	T	10	0.007021308	0.00160	T	0.005107	0.12970	T	0.027	0.05988	.	.	0.0482279557977	0.04254	0.4175740929164195	0.41673	0.0750845404494	0.08422	0.270309835672	0.06182	T	0.033341	0.22872	T	-0.691409	0.00041	T	-0.764433	0.02956	T	0.00270313092441496	0.00028	T	0.725427	0.33942	T	0.041597556	0.06155	0.041831125	0.04843	0.03818147	0.05038	0.035043903	0.02681	-4.572	0.31818	T	0.13999414575074068	0.15628	0.082	0.08948	B	.	.	0.521294	0.08901	5.681	0.9543046288191338	0.26922	0.01474	0.04912	N	AEFGBI	0.041938	0.06443	N	-1.18969183863936	0.05155	0.2343442	-1.3221762622758	0.04145	0.1948726	0.999019229266028	0.38212	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.19	-5.18	0.02624	-1.189000	0.03170	-3.097000	0.03064	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.837000	0.39485	0.1948:0.331:0.4742:0.0	7.474	0.26533	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	1	0	0	1	0	0	0	0.02381	1570.98	37	chr11	60869160	.	G	A	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.284;DP=843;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=1.24;SOR=0.836	GT:AD:DP:GQ:PL	0/1:83,68:151:99:1585,0,1952	20	0	1	0
chr11	61484728	61484728	A	G	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon5:c.A422G:p.Q141R	.	.	420	1083	19	0	0	19	0.00869565	.	.	712920	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.386	B	0.124	B	0.162	N	0.855	N	1.95	M	1.49	T	-0.980	T	0.073	T	0.143	2.208	13.34	5.33	2.028	1.745	7.983	0.062	.	0.0057	0.00499201	0.0074	0.0013	0.0035	0.0004	0.0054	0.0088	0.0064	0.0127	0.0068434	1058	154602	rs146231065	0.0079	0.0079	0.0078	0.0079	0.0102	0.0078	0.0077	0.0096	0.0094	0.0013	0.0034	0.0035	0.0001	0.0045	0.0099	0.0087	0.0072	0.0102	0.0057	0.0057	0.0063	0.0051	0.0093	0.0054	0.0053	0.0087	0.0085	0.0016	0	0.0043	0.0026	0.0004	0.0036	0.0068	0.0093	0.0066	0.0083	0.532	0.06980	T	0.214	0.27414	T	0.386	0.34500	B	0.124	0.32546	B	0.162044	0.17633	N	0.548000	0.999996	0.08975	N	2.52	0.73523	M	0.9	0.45248	T	-1.39	0.34397	N	0.309	0.38848	-0.9796	0.35094	T	0.073	0.29707	T	9	0.0050240457	0.00108	T	.	.	.	0.062	0.17934	.	.	0.44318313171	0.43938	0.37915771285481725	0.37830	0.136013082225	0.15338	0.337984144688	0.16136	T	0.021627	0.16810	T	-0.547716	0.00301	T	-0.545252	0.17784	T	0.0224581996817643	0.00961	T	0.553645	0.19140	T	0.10898179	0.25765	0.08190894	0.18652	0.10898179	0.25765	0.08190894	0.18652	-3.265	0.14010	T	.	.	0.082	0.08705	B	.;.	.;.	1.827259	0.23215	15.93	0.9881692540833007	0.46720	0.10955	0.16308	N	AEFDBHCI	0.062962	0.12137	N	-0.201305311371067	0.33080	1.872806	-0.167050394461141	0.32757	1.866839	0.999595031790758	0.40745	0.638212	0.43195	0	0.670034	0.63936	0	0.596874	0.31795	0	0.59522	0.37078	0	.	.	5.33	5.33	0.75683	1.751000	0.37967	3.990000	0.40980	0.756000	0.94297	0.122000	0.23210	0.993000	0.31925	0.911000	0.44643	0.9082:0.0:0.0918:0.0	7.983	0.29357	715	0.56137	.;.	.	.	.	.	rs146231065	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	1083.98	37	chr11	61484728	.	A	G	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.800e-02;DP=805;ExcessHet=0.0000;FS=2.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-1.793e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1098,0,1352	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|1:74,17:91:99:0|1:61740527_G_C:254,0,2612:61740527	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|1:74,17:91:99:0|1:61740527_G_C:253,0,2636:61740527	0	0	21	0
chr11	61740534	61740534	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1925C:p.I642T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.966	D	0.000	D	1.000	D	2.14	M	1.62	T	-0.753	T	0.179	T	0.931	3.211	16.76	4.41	1.764	7.925	13.945	0.630	0.0533207713132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.981	0.59675	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	1.62	0.28189	T	-3.44	0.67477	D	0.962	0.97207	-0.7533	0.57763	T	0.179	0.52536	T	10	0.8921055	0.88555	D	0.053321	0.65423	D	0.630	0.85769	0.681	0.81885	0.304565745084	0.30068	0.7744194937475786	0.77391	0.666986608579	0.59222	0.869130373001	0.92444	D	0.75206	0.93213	D	0.265718	0.80056	D	0.143909	0.79798	D	0.9852654337883	0.76310	D	0.940673	0.77758	D	0.6597242	0.75884	0.5518828	0.74088	0.6597242	0.75885	0.5518828	0.74088	-12.743	0.88276	D	.	.	0.996	0.95780	P	.	.	4.310021	0.65883	24.9	0.99513605803015515	0.68799	0.99537	0.97199	D	AEFBI	0.889702	0.82402	D	0.670673455613988	0.77712	6.727655	0.622032396737468	0.76541	6.510446	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	7.903000	0.86133	7.733000	0.67792	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	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	0.04762	518.13	45	chr11	61740534	.	T	C	518.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.553e+00;DP=1567;ExcessHet=0.1072;FS=202.737;InbreedingCoeff=-0.0510;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.58;ReadPosRankSum=0.399;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,18:89:99:0|1:61740527_G_C:269,0,2528:61740527	19	0	2	0
chr11	64117928	64117928	C	T	exonic	FLRT1	.	nonsynonymous SNV	FLRT1:NM_001384466:exon3:c.C1661T:p.A554V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.998	D	0.000	D	1.000	D	2.085	M	-0.11	T	-0.240	T	0.421	T	0.694	3.915	19.91	5.17	2.584	7.813	17.827	0.258	0.0817704843658	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs142645704	3.284e-05	3.283e-05	3.676e-05	2.888e-05	4.047e-05	2.544e-05	2.249e-05	3.085e-05	2.753e-05	0	0	0	2.519e-05	0	0	4.047e-05	1.656e-05	1.16e-05	1.314e-05	1.313e-05	2.568e-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	0.1	0.30515	T	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.11	0.64445	T	-1.79	0.42191	N	0.686	0.69213	-0.2402	0.76621	T	0.421	0.76637	T	10	0.6749946	0.70937	D	0.08177	0.73755	D	0.258	0.56959	.	.	0.352477664867	0.34857	0.6641113869571723	0.66348	0.992740038689	0.74138	0.646227836609	0.59449	T	.	.	.	0.108924	0.65240	D	-0.081315	0.64808	T	0.942724645137787	0.61719	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.52873	B	.	.	4.484525	0.69992	25.5	0.999258425067588	0.99042	0.99574	0.97595	D	AEFBI	0.928342	0.91241	D	0.748901216520327	0.82833	7.861442	0.706170295889619	0.82848	7.869772	0.999999999999993	0.74766	0.62174	0.39705	0	0.547309	0.14657	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.17	5.17	0.70848	6.167000	0.71757	4.923000	0.46060	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0:1.0:0.0:0.0	17.827	0.88579	453	0.79178	.	.	.	.	.	.	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	1778.98	115	chr11	64117928	.	C	T	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=1857;ExcessHet=0.0000;FS=1.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.830;SOR=0.802	GT:AD:DP:GQ:PL	0/1:94,69:163:99:1793,0,2301	20	0	1	0
chr11	64307271	64307271	C	T	exonic	ESRRA	.	nonsynonymous SNV	ESRRA:NM_001282450:exon2:c.C92T:p.T31I	.	.	406	1112	4	0	0	4	0.00179533	.	.	712992	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.465	P	0.014	B	0.008	N	0.999	N	0	N	-2.85	D	-0.259	T	0.501	D	0.256	0.571	7.085	4.3	2.399	1.314	12.470	0.233	0.0674654032388	0.0046	0.00359425	0.0033	0.0096	0.0043	0.0001	0.0002	0.0036	0.0011	0.0007	0.0034605	535	154602	rs117285599	0.0034	0.0034	0.0035	0.0033	0.0083	0.0033	0.0033	0.0075	0.0072	0.0083	0.0047	0.0039	2.519e-05	0.0006	0.0079	0.0036	0.0047	0.0010	0.0047	0.0047	0.0048	0.0046	0.0088	0.0044	0.0043	0.0080	0.0077	0.0088	0	0.0067	0.0032	0	0.0003	0.0136	0.0031	0.0095	0.0002	0.392	0.10802	T	0.194	0.28669	T	0.0	0.36447	B	0.0	0.16862	B	0.007991	0.31082	N	0.340567	0.999305	0.21385	N	0.345	0.11182	N	-2.85	0.95352	D	-0.75	0.31778	N	0.357	0.39861	-0.2594	0.76104	T	0.501	0.81149	D	10	0.004929304	0.00106	T	0.067465	0.70173	D	0.233	0.53499	.	.	0.715926139253	0.71343	0.24652187048215393	0.24566	0.674172896119	0.59628	0.615705370903	0.55121	T	0.105429	0.41588	T	-0.281891	0.10467	T	-0.171437	0.57311	T	0.00545724112597076	0.00059	T	0.786121	0.42437	T	0.10203361	0.24106	0.06268524	0.12302	0.10203361	0.24106	0.06268524	0.12301	-5.818	0.44818	T	.	.	0.149	0.32922	B	.;.;.;.	.;.;.;.	2.372734	0.30450	18.44	0.94867085906681881	0.25685	0.75970	0.37226	D	AEFGBCI	0.157037	0.28249	N	-0.363558059168466	0.26777	1.463996	-0.22132315680875	0.30773	1.735567	0.999998842783608	0.74766	0.643511	0.44296	0	0.672317	0.65289	0	0.685571	0.62057	0	0.631631	0.49550	0	.	.	4.3	4.3	0.50540	0.886000	0.27878	5.917000	0.51107	0.599000	0.40250	0.006000	0.17386	0.999000	0.35428	0.340000	0.25432	0.0:1.0:0.0:0.0	12.470	0.55118	649	0.63102	.;.;.;.	.	.	.	.	.	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	657.98	34	chr11	64307271	.	C	T	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-01;DP=747;ExcessHet=0.0000;FS=3.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-7.360e-01;SOR=0.339	GT:AD:DP:GQ:PL	0/1:26,28:54:99:672,0,703	20	0	1	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	0/1:98,96:194:99:2556,0,2504	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	1/2:0,29,20,0:49:99:2077,807,700,1206,0,1144,2048,801,1207,2034	5	4	8	0
chr11	68312749	68312749	-	GCT	exonic	LRP5	.	nonframeshift insertion	LRP5:NM_002335:exon1:c.35_36insGCT:p.L20_A21insL,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	26	179	10	6	5	27	0.0578947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	951.96	12	chr11	68312746	.	CGCT	CGCTGCT,C	951.96	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-8.330e-01;DP=282;ExcessHet=1.1607;FS=1.068;InbreedingCoeff=-0.1413;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=0.100;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,7,0:9:62:.:.:278,0,62,284,83,367	16	0	4	0
chr11	72828397	72828397	G	A	exonic	ATG16L2	.	nonsynonymous SNV	ATG16L2:NM_001318766:exon15:c.G1193A:p.R398Q	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.961	D	0.015	N	1.000	D	2.19	M	0.22	T	-0.669	T	0.290	T	0.358	3.916	19.92	4.13	2.505	1.075	8.286	0.115	0.038819636988	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761722652	1.505e-05	1.505e-05	1.089e-05	1.925e-05	0.0009	9.85e-06	8.41e-06	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	8.993e-06	8.279e-05	0	1.972e-05	2.627e-05	2.569e-05	1.346e-05	6.545e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	6.545e-05	0	0	0	0	0	0	0	0.007	0.59928	D	0.013	0.63109	D	0.997	0.70673	D	0.961	0.70482	D	0.014808	0.28424	N	0.294731	0.997904	0.81001	D	2.395	0.69210	M	0.22	0.59851	T	-2.17	0.50012	N	0.496	0.52918	-0.6687	0.61888	T	0.290	0.66162	T	10	0.29033917	0.46614	T	0.03882	0.58447	D	0.171	0.43483	0.287	0.24601	0.798034202707	0.79615	0.319072417270717	0.31820	0.70483266819	0.61353	0.419741213322	0.27800	T	0.042935	0.26341	T	-0.0339331	0.46842	T	-0.286519	0.46134	T	0.849949479103088	0.50161	D	0.888611	0.70849	D	0.1541438	0.34904	0.12978597	0.31199	0.1541438	0.34904	0.12978597	0.31198	-12.196	0.85792	D	.	.	0.108	0.20625	B	.;.;.	.;.;.	5.291931	0.88853	29.8	0.99939996278657761	0.99767	0.79023	0.39082	D	AEFDGBHCI	0.049344	0.08514	N	0.403308693542803	0.61605	4.363776	0.385902563530381	0.60694	4.259991	0.999999999686016	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.80507	0.99327	0	0.592323	0.36904	0	.	.	5.06	4.13	0.47661	1.006000	0.29449	6.567000	0.55956	0.676000	0.76740	0.975000	0.34726	1.000000	0.68203	0.978000	0.57271	0.1809:0.0:0.8191:0.0	8.286	0.31088	509	0.75304	WD40-repeat-containing domain;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	0	0	0	0	0.02381	1567.98	34	chr11	72828397	.	G	A	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=824;ExcessHet=0.0000;FS=5.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=1.25;SOR=0.772	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1582,0,1364	20	0	1	0
chr11	77702384	77702384	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon6:c.A845G:p.D282G,	.	.	441	1056	21	4	0	29	0.0135451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.001	B	0.046	N	0.999	D	0.895	L	1.4	T	-0.431	T	0.423	T	0.273	2.171	13.22	3.43	0.998	1.681	8.596	0.126	.	0.0012	0.00299521	0.0020	9.968e-05	0.0010	0	0.0002	0.0014	0.0022	0.0079	0.0017788	275	154602	rs149599829	0.0013	0.0013	0.0010	0.0016	0.0254	0.0013	0.0012	0.0220	0.0207	0.0007	0.0005	0.0023	7.565e-05	0.0003	0.0254	0.0008	0.0023	0.0078	0.0012	0.0012	0.0011	0.0013	0.0093	0.0010	0.0010	0.0072	0.0064	0.0002	0	0.0012	0.0023	0	0.0004	0.0340	0.0011	0.0038	0.0093	0.074	0.34621	T	0.145	0.33000	T	0.001	0.07471	B	0.001	0.04355	B	0.046415	0.23442	N	0.370958	0.956621	0.46578	D	1.445	0.36358	L	-2.04	0.86415	D	-2.62	0.63090	D	0.156	0.17140	-0.4306	0.71047	T	0.423	0.76783	T	10	0.0058239996	0.00130	T	.	.	.	0.126	0.34673	.	.	0.388737156453	0.38486	0.06564192176107955	0.06503	0.0250102987337	0.02547	0.317823112011	0.13091	T	0.021387	0.33439	T	-0.34498	0.05051	T	-0.26333	0.48490	T	0.0134633381867005	0.00245	T	0.765923	0.39354	T	0.12443495	0.29197	0.14633854	0.34674	0.12443495	0.29197	0.14633854	0.34673	-4.973	0.36633	T	.	.	0.087	0.18497	B	.;.;.;.	.;.;.;.	2.676665	0.34910	19.76	0.98318563966930406	0.40212	0.91193	0.53043	D	AEFBI	0.412134	0.48233	N	-0.267957841629931	0.30392	1.694271	-0.0931855098408182	0.35671	2.066501	0.0647651325479164	0.15339	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.81	3.43	0.38372	1.231000	0.32226	4.158000	0.42192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0687:0.1293:0.802	8.596	0.32876	533	0.73433	.;.;.;.	.	.	.	.	.	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	2859.11	42	chr11	77702384	.	T	C	2859.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.523e+00;DP=972;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.716;SOR=0.561	GT:AD:DP:GQ:PL	0/1:41,60:101:99:1472,0,1058	19	0	2	0
chr11	92883327	92883327	G	A	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon24:c.G12871A:p.A4291T	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.932	P	0.263	B	.	.	1.000	D	1.5	L	-0.79	T	-0.409	T	0.403	T	0.099	2.557	14.51	3.54	0.657	1.700	8.030	0.117	0.0564082926914	.	.	7.008e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs756553194	5.277e-05	5.336e-05	3.136e-05	7.44e-05	0.0005	4.285e-05	3.96e-05	0.0004	0.0003	0	0	0	0	0	0.0004	2.519e-05	4.979e-05	0.0005	3.943e-05	3.94e-05	3.854e-05	4.035e-05	0.0004	1.715e-05	1.129e-05	7.276e-05	3.024e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0004	0.081	0.58626	T	0.015	0.61642	D	0.013	0.16609	B	0.002	0.06944	B	.	.	.	.	0.540768	0.32052	D	1.1	0.28011	L	-0.79	0.85542	T	-0.4	0.15379	N	0.327	0.36779	-0.4087	0.71752	T	0.403	0.75345	T	9	0.08283183	0.13713	T	0.056408	0.66592	D	0.117	0.32689	.	.	0.394843243715	0.39102	0.41165908933856704	0.41081	.	.	0.597300171852	0.52523	T	0.043276	0.26449	T	-0.323934	0.06581	T	-0.366826	0.37260	T	0.0956183448433876	0.11868	T	.	.	.	0.047216397	0.08035	0.08888413	0.20752	0.047216397	0.08035	0.08888413	0.20751	-3.605	0.17929	T	.	.	0.081	0.08657	B	.;.;.	.;.;.	2.479864	0.31973	18.90	0.99352979349330162	0.60656	0.70046	0.34430	D	AEFBHCI	0.185833	0.31315	N	-0.223378050240857	0.32175	1.81182	-0.205397258784875	0.31341	1.772822	0.996719424988892	0.34950	0.533608	0.22052	0	0.59043	0.45803	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.42	3.54	0.39650	1.772000	0.38182	2.878000	0.35310	0.676000	0.76740	0.954000	0.33273	0.999000	0.35428	0.620000	0.31896	0.0724:0.0:0.6431:0.2845	8.030	0.29619	701	0.57775	.;.;.	.	.	.	.	.	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	1881.98	41	chr11	92883327	.	G	A	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.266e+00;DP=925;ExcessHet=0.0000;FS=3.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=0.250;SOR=0.443	GT:AD:DP:GQ:PL	0/1:57,70:127:99:1896,0,1555	20	0	1	0
chr11	95026776	95026776	T	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1219G:p.F407V,	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.003	B	.	.	1.000	N	0.345	N	1.77	T	-0.989	T	0.019	T	0.132	-0.476	1.807	-1.49	-0.428	-0.016	2.449	0.003	.	0.0072	0.00279553	0.0059	0.0006	0.0099	0	0	0.0068	0	0.0065	0.0020116	311	154602	rs143234858	0.0104	0.0098	0.0105	0.0102	0.0120	0.0102	0.0102	0.0118	0.0117	0.0016	0.0037	0.0005	0	0.0107	0.0026	0.0120	0.0085	0.0047	0.0068	0.0068	0.0074	0.0061	0.0113	0.0064	0.0063	0.0107	0.0104	0.0019	0	0.0032	0.0009	0	0.0093	0.0034	0.0113	0.0066	0.0033	0.436	0.09374	T	0.333	0.18395	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.77	0.25841	T	0.79	0.01893	N	0.097	0.07811	-0.9890	0.32853	T	0.019	0.07846	T	9	0.004265785	0.00085	T	.	.	.	0.003	0.00094	.	.	0.043077524339	0.03247	0.15765746771663278	0.15686	0.463039974516	0.45817	0.356590986252	0.18889	T	0.001397	0.00857	T	-0.666727	0.00057	T	-0.719452	0.04823	T	0.000738389523539531	0.00007	T	0.217178	0.02724	T	0.02557602	0.01512	0.033147153	0.02162	0.02557602	0.01512	0.033147153	0.02161	-2.47	0.05580	T	.	.	0.080	0.07650	B	.	.	-0.385564	0.02267	0.234	0.33409785763846811	0.01988	0.00132	0.00814	N	AEFDBI	0.024669	0.01565	N	-1.29220034184438	0.03768	0.168928	-1.37451679846921	0.03525	0.1646331	0.536882318896718	0.21221	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	-1.49	0.08259	-0.394000	0.07357	-4.566000	0.02092	-1.134000	0.01451	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4209:0.3167:0.2625	2.449	0.04238	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5363.68	39	chr11	95026776	.	T	G	5363.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.501;DP=1182;ExcessHet=0.3300;FS=2.431;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-3.490e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:84,61:145:99:1600,0,2226	18	0	3	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	1/1:1,97,0:98:99:.:.:4143,286,0,4145,293,4152	0	17	3	0
chr11	103283029	103283029	G	C	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon73:c.G10834C:p.D3612H	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	2	1514	6	0	0	6	0.00197759	.	.	222018	Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy|not_specified|Asphyxiating_thoracic_dystrophy_3	MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MedGen:CN169374|MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.817	P	0.693	P	0.006	N	1.000	D	0.55	N	3.08	T	-1.068	T	0.016	T	0.752	4.173	21.6	5.44	2.551	6.566	18.038	0.259	.	0.0055	0.00519169	0.0074	0.0018	0.0319	0	0.0010	0.0070	0.0060	0.0019	0.0069145	1069	154602	rs116872934	0.0068	0.0068	0.0069	0.0066	0.0275	0.0066	0.0066	0.0262	0.0256	0.0011	0.0275	0.0056	0	0.0011	0.0017	0.0071	0.0052	0.0028	0.0063	0.0063	0.0061	0.0065	0.0244	0.0059	0.0058	0.0224	0.0216	0.0021	0	0.0244	0.0058	0	0.0008	0.0034	0.0065	0.0047	0.0031	0.041	0.41915	D	0.114	0.36765	T	0.066	0.45613	B	0.145	0.53889	B	0.006273	0.01117	N	2.962910	0.998733	0.81001	D	1.39	0.34934	L	3.08	0.08460	T	-1.97	0.45587	N	0.573	0.60410	-1.0679	0.09880	T	0.016	0.06616	T	10	0.006396532	0.00145	T	.	.	.	0.259	0.57090	.	.	0.411001663086	0.40716	0.3808785964054901	0.38002	0.0753896777869	0.08455	0.654516041279	0.60627	T	0.120994	0.44364	T	-0.325177	0.06482	T	-0.217559	0.52971	T	0.0147985303923625	0.00311	T	0.891911	0.62748	D	0.15489395	0.35035	0.18020076	0.40804	0.163431	0.36483	0.19564216	0.43251	-5.063	0.37516	T	0.3102136810837569	0.40807	0.155	0.43707	B	.;.;.;.	.;.;.;.	4.130079	0.61802	24.4	0.99472390284296797	0.66419	0.96970	0.71943	D	AEFBI	0.599546	0.59252	D	0.258743143391408	0.54072	3.573837	0.401653450492819	0.61669	4.370164	0.915540330848709	0.26486	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	6.545000	0.73784	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.038	0.89235	624	0.65661	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	463.98	41	chr11	103283029	.	G	C	463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.044;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.44;ReadPosRankSum=-1.330e-01;SOR=0.583	GT:AD:DP:GQ:PL	0/1:49,23:72:99:478,0,1252	20	0	1	0
chr11	105979645	105979645	G	A	exonic	GRIA4	.	nonsynonymous SNV	GRIA4:NM_000829:exon17:c.G2615A:p.R872H,	.	.	433	1087	2	0	0	2	0.000919118	.	.	962920	GRIA4-related_disorder|Neurodevelopmental_disorder_with_or_without_seizures_and_gait_abnormalities|Inborn_genetic_diseases	.|MONDO:MONDO:0060641,MedGen:C4693391,OMIM:617864|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.959	D	0.000	D	1.000	D	2.51	M	2.55	T	-1.030	T	0.117	T	0.823	4.770	26.8	5.61	2.624	9.830	19.625	0.364	0.00594189244539	.	.	4.943e-05	0	0	0	0	8.992e-05	0	0	3.88e-05	6	154602	rs756483110	4.107e-05	4.104e-05	2.86e-05	5.366e-05	0.0002	3.246e-05	2.921e-05	2.456e-05	2.145e-05	0	0	0.0006	2.519e-05	0	0.0002	3.33e-05	4.971e-05	2.319e-05	3.285e-05	3.284e-05	5.138e-05	1.345e-05	4.409e-05	1.261e-05	7.98e-06	1.17e-05	6.25e-06	0	0	0	0.0006	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.959	0.70163	D	0.000003	0.62929	D	0.000000	1	0.81001	D	2.43	0.70455	M	2.55	0.13795	T	-1.93	0.44852	N	0.373	0.41656	-1.0300	0.20454	T	0.117	0.41253	T	10	0.27101368	0.44637	T	0.005942	0.15490	T	0.364	0.68407	0.572	0.69564	0.677451283365	0.67471	0.5090803722464851	0.50830	2.3112671158	0.96577	0.829971551895	0.86558	D	0.242314	0.61103	T	-0.0158066	0.49449	T	-0.0789536	0.64981	T	0.377470397368388	0.28085	T	0.930507	0.74278	D	0.26278287	0.49341	0.3089058	0.56907	0.26278287	0.49341	0.3089058	0.56907	-4.4	0.29557	T	.	.	0.395	0.59313	A	.;.	.;.	5.170867	0.86670	29.0	0.99934680016143984	0.99535	0.99008	0.89887	D	AEFBI	0.930819	0.91870	D	0.926113768107269	0.92980	11.74582	0.906705686700801	0.95858	14.04192	0.999999932934469	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	9.964000	0.99056	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.625	0.95670	669	0.61081	.;.	.	.	.	.	.	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	1801.98	35	chr11	105979645	.	G	A	1801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.893e+00;DP=812;ExcessHet=0.0000;FS=1.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=0.052;SOR=0.836	GT:AD:DP:GQ:PL	0/1:49,78:127:99:1816,0,1158	20	0	1	0
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	0/1:97,22:119:75:.:.:75,0,3053	2	0	13	6
chr11	111875316	111875316	A	G	exonic	FDXACB1	.	nonsynonymous SNV	FDXACB1:NM_138378:exon5:c.T1481C:p.L494S,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	0.999	D	2.18	M	-0.35	T	0.399	D	0.655	D	0.845	4.136	21.3	6.07	2.326	7.465	16.629	0.706	0.0843986154979	.	0.000399361	0.0003	0	0	0.0030	0	4.517e-05	0.0011	0.0004	0.0002587	40	154602	rs201937600	0.0001	0.0001	0.0001	0.0002	0.0034	0.0001	0.0001	0.0029	0.0028	0	0	0	0.0034	0	0	3.508e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0027	8.164e-05	6.721e-05	0.0016	0.0013	0	0	0	0	0.0027	0	0	2.94e-05	0.0009	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.96	0.70309	D	0.000141	0.49130	D	0.128820	0.999311	0.46639	D	2.36	0.67893	M	-0.35	0.68616	T	-2.17	0.49018	N	0.737	0.73735	0.399	0.89075	D	0.655	0.88004	D	10	0.0951308	0.16967	T	0.084399	0.74318	D	0.706	0.89468	.	.	0.826602860868	0.82496	0.8785579567618712	0.87822	0.346059605865	0.36514	0.54585981369	0.45273	T	0.174639	0.52393	T	-0.0510484	0.44287	T	0.152423	0.80338	D	0.0894504657957652	0.11152	T	0.659534	0.26859	T	0.15561391	0.35161	0.28888303	0.54906	0.15561391	0.35160	0.28888303	0.54905	-8.264	0.62855	D	.	.	0.683	0.72250	P	.	.	4.473539	0.69731	25.4	0.99848168582167796	0.92750	0.98521	0.83668	D	AEFBI	0.880411	0.80705	D	0.803135374643206	0.86301	8.841782	0.796486582693926	0.89547	10.02042	0.999999992567934	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.07	6.07	0.98675	7.645000	0.82580	11.188000	0.88560	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.629	0.84866	87	0.96348	.	.	.	.	.	.	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	2241.98	36	chr11	111875316	.	A	G	2241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=930;ExcessHet=0.0000;FS=0.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.241;SOR=0.745	GT:AD:DP:GQ:PL	0/1:92,84:176:99:2256,0,2459	20	0	1	0
chr11	118902505	118902505	G	A	exonic	BCL9L	.	nonsynonymous SNV	BCL9L:NM_182557:exon6:c.C1238T:p.T413M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.001	D	1.000	D	0.805	L	-1.02	T	0.077	D	0.483	T	0.684	3.298	17.08	4.25	2.214	7.356	16.841	0.564	0.313144192296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403588343	6.18e-06	6.84e-06	1.367e-06	1.104e-05	6.713e-05	2.91e-06	2.11e-06	1.78e-05	8.93e-06	0	6.713e-05	0	0	0	0	4.497e-06	0	1.16e-05	6.569e-06	6.566e-06	0	1.345e-05	6.539e-05	0	0	.	.	0	0	6.539e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000576	0.43250	D	0.000000	0.999998	0.58761	D	0.805	0.20218	L	-1.02	0.76300	T	-4.35	0.76900	D	0.66	0.66959	0.077	0.83746	D	0.483	0.80291	T	10	0.54894257	0.64144	D	0.313144	0.91247	D	0.564	0.82175	0.313	0.28774	0.689243855345	0.68657	0.5868796524234968	0.58617	0.794315739272	0.65970	0.890811741352	0.95361	D	0.742598	0.92883	D	0.0532959	0.58766	T	0.0146262	0.71281	D	0.988121509552002	0.78501	D	0.930407	0.74741	D	0.51188695	0.67789	0.42060244	0.66018	0.51188695	0.67790	0.42060244	0.66019	-13.129	0.89886	D	.	.	0.950	0.92161	P	.;.	.;.	4.886953	0.80198	27.3	0.99862625107609593	0.94093	0.94417	0.61099	D	AEFBCI	0.780507	0.71238	D	0.524496871311265	0.68544	5.231667	0.518837285937694	0.69260	5.334886	0.999999993800881	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.25	4.25	0.49658	7.465000	0.79922	11.736000	0.95093	0.608000	0.46601	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	16.841	0.85833	343	0.85802	B-cell lymphoma 9, beta-catenin binding domain;B-cell lymphoma 9, beta-catenin 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	0.04762	1437.08	40	chr11	118902505	.	G	A	1437.08	.	AC=2;AF=0.048;AN=42;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.22;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1465,126,0	20	1	0	0
chr11	123994528	123994528	C	T	exonic	OR10G6	.	nonsynonymous SNV	OR10G6:NM_001355219:exon1:c.G634A:p.D212N,	.	.	795	712	14	1	0	16	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0131	0.0026	0	0	0.0161	0.0169	0	0.0088	0.0027102	419	154602	rs17128087	0.0125	0.0059	0.0126	0.0125	0.0156	0.0121	0.0120	0.0151	0.0148	0.0015	0.0085	0.0084	0	0.0116	0.0077	0.0156	0.0116	0.0096	0.0100	0.0100	0.0105	0.0094	0.0154	0.0096	0.0094	0.0146	0.0143	0.0028	0	0.0086	0.0087	0.0002	0.0108	0.0170	0.0154	0.0123	0.0097	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.16725	.	.	.	.	.	.	.	0.0054508448	0.00120	T	.	.	.	.	.	.	.	.	.	0.12436243897469361	0.12362	.	.	.	.	.	0.019733	0.15664	T	-0.438119	0.01327	T	-0.388478	0.34729	T	.	.	.	0.953705	0.82322	D	0.066010684	0.14162	0.1682235	0.38766	0.066010684	0.14161	0.1682235	0.38765	-5.832	0.44852	T	.	.	0.145	0.31882	B	.	.	2.654133	0.34565	19.66	0.74879977236506545	0.10862	0.02657	0.07269	N	AEFBI	0.036726	0.04940	N	.	.	.	.	.	.	1.40757368021625E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.062806	0.01542	0	.	.	4.58	3.66	0.41111	-0.329000	0.07978	0.369000	0.17657	0.551000	0.28136	0.000000	0.06391	0.004000	0.18990	0.457000	0.28051	0.0:0.7748:0.1435:0.0817	9.499	0.38171	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4507.66	34	chr11	123994528	.	C	T	4507.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.65;DP=1618;ExcessHet=0.0000;FS=9.525;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.10;ReadPosRankSum=-1.890e-01;SOR=0.727	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3809,360,0	19	1	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	0/2:7,0,6:13:99:229,250,473,0,223,205	3	7	5	0
chr12	226465	226465	C	T	exonic	SLC6A13	.	nonsynonymous SNV	SLC6A13:NM_001190997:exon7:c.G709A:p.G237S	.	.	409	1095	15	3	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.875	M	-1.49	T	0.483	D	0.652	D	0.986	5.496	35	5.34	2.484	7.753	19.027	0.926	0.113246560177	0.0015	0.000998403	0.0013	0.0006	0.0023	0	0	0.0017	0.0066	0.0005	0.0013001	201	154602	rs140655819	0.0012	0.0012	0.0012	0.0012	0.0142	0.0012	0.0011	0.0117	0.0108	0.0010	0.0023	0.0135	0	9.362e-05	0.0142	0.0009	0.0023	0.0004	0.0014	0.0014	0.0015	0.0012	0.0025	0.0012	0.0011	0.0019	0.0017	0.0007	0.0011	0.0025	0.0115	0	9.422e-05	0.0170	0.0012	0.0052	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	-1.49	0.81235	T	-5.24	0.84674	D	0.981	0.99100	0.483	0.90305	D	0.652	0.87869	D	10	0.104839474	0.19349	T	0.113247	0.79168	D	0.926	0.98192	.	.	0.83007336595	0.82846	0.8233017222909504	0.82287	0.19809157167	0.22186	0.622243762016	0.56046	T	0.372501	0.73667	T	0.0865726	0.62800	D	0.345412	0.90134	D	0.0352300457780154	0.02848	T	0.921108	0.86607	D	0.93738484	0.94981	0.85962284	0.92153	0.93738484	0.94981	0.85962284	0.92153	-10.723	0.81108	D	.	.	0.926	0.84656	P	.;.	.;.	4.885162	0.80157	27.3	0.99875432349529991	0.95244	0.93505	0.58400	D	AEFBHCI	0.939912	0.94116	D	0.869689627001227	0.90197	10.29623	0.816349215019553	0.90905	10.62512	0.999999995234613	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	7.841000	0.85097	4.890000	0.45755	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	19.027	0.92915	929	0.16858	.;.	.	.	.	.	.	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	1057.98	33	chr12	226465	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=0.535;SOR=0.596	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1072,0,727	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	0/1:50,23:73:24:.:.:24,0,713	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	1/2:0,7,44,0,0:51:99:1891,1641,1746,257,0,135,1905,1711,270,1967,1905,1711,270,1967,1967	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	1/2:0,7,44,0,0:51:99:1891,1641,1746,257,0,135,1905,1711,270,1967,1905,1711,270,1967,1967	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	1/2:0,7,44,0,0:51:99:1891,1641,1746,257,0,135,1905,1711,270,1967,1905,1711,270,1967,1967	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	1/2:0,7,44,0,0:51:99:1891,1641,1746,257,0,135,1905,1711,270,1967,1905,1711,270,1967,1967	0	0	0	0
chr12	6775339	6775339	G	A	exonic	LAG3	.	nonsynonymous SNV	LAG3:NM_002286:exon5:c.G848A:p.R283H,	.	.	404	1117	1	0	0	1	0.000447427	.	.	2390598	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.004	B	0.005	B	0.336	N	1.000	N	0.035	N	2.67	T	-0.952	T	0.013	T	0.102	0.431	6.341	-5.45	-0.902	-0.765	9.734	0.024	0.0064506697607	0.0002	0.000199681	8.237e-05	0	0	0.0005	0	7.492e-05	0	6.057e-05	7.76e-05	12	154602	rs201789511	6.977e-05	6.977e-05	6.398e-05	7.563e-05	0.0002	5.846e-05	5.457e-05	8.198e-05	5.784e-05	5.974e-05	0.0001	0	0.0002	3.744e-05	0	6.835e-05	0.0001	2.319e-05	3.939e-05	4.593e-05	5.139e-05	2.686e-05	0.0004	1.714e-05	1.129e-05	6.84e-05	2.862e-05	2.406e-05	0	0	0	0.0004	0	0	4.41e-05	0	0	0.282	0.20381	T	0.764	0.04571	T	0.002	0.09854	B	0.003	0.08700	B	0.336059	0.14037	N	0.692253	0.999921	0.19486	N	-0.425	0.02884	N	2.67	0.12473	T	1.05	0.01314	N	0.14	0.19861	-0.9522	0.40590	T	0.013	0.05321	T	10	0.015864372	0.00333	T	0.006451	0.16985	T	0.024	0.04979	.	.	0.0954503805726	0.09146	0.24293373105549773	0.24207	0.106778675347	0.12062	0.230743840337	0.02023	T	0.125383	0.45105	T	-0.564998	0.00237	T	-0.749033	0.03523	T	0.0177669227957557	0.00505	T	0.721628	0.33490	T	0.025138741	0.01419	0.03612586	0.02998	0.025138741	0.01419	0.03612586	0.02997	-4.012	0.23983	T	.	.	0.061	0.01075	B	.;.	.;.	0.234922	0.06159	2.605	0.71138271652754248	0.09528	0.00616	0.02727	N	AEFDGBI	0.031824	0.03479	N	-1.31839455868656	0.03465	0.1548144	-1.27741559467591	0.04736	0.224145	0.999999703451367	0.74766	0.676563	0.55306	0	0.586065	0.33999	0	0.673471	0.61138	0	0.491896	0.07777	0	.	.	5.55	-5.45	0.02411	-0.961000	0.03955	-2.043000	0.04299	-0.668000	0.04312	0.001000	0.13787	0.000000	0.08366	0.493000	0.28859	0.2806:0.1326:0.5868:0.0	9.734	0.39546	398	0.82839	.;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	1	0	0	0	0.02381	1320.98	36	chr12	6775339	.	G	A	1320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.768;DP=819;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-9.840e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1335,0,1547	20	0	1	0
chr12	6867505	6867505	T	G	exonic	TPI1	.	nonsynonymous SNV	TPI1:NM_001159287:exon1:c.T50G:p.I17R,	Hemolytic anemia due to triosephosphate isomerase deficiency, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	799727	Triosephosphate_isomerase_deficiency|not_provided	MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	D	0.55	N	.	.	-0.906	T	0.132	T	0.592	4.072	20.9	4.83	2.026	1.739	9.470	0.212	.	.	0.00379393	0.0061	0.0186	0.0135	0	0.0038	0.0072	0.0144	0.0020	0.0019857	307	154602	rs1800202	0.0029	0.0029	0.0028	0.0030	0.0142	0.0028	0.0028	0.0116	0.0107	0.0077	0.0028	0.0033	0	0.0005	0.0142	0.0030	0.0038	0.0014	0.0038	0.0038	0.0039	0.0036	0.0075	0.0035	0.0034	0.0069	0.0066	0.0075	0	0.0030	0.0032	0	0.0003	0.0102	0.0026	0.0066	0.0010	0.16	0.23721	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	0.787072	0.34339	D	0	0.06538	N	.	.	.	-0.14	0.09135	N	0.51	0.64648	-0.9062	0.47308	T	0.132	0.44288	T	6	0.008082598	0.00183	T	.	.	.	0.212	0.50341	.	.	0.320526991862	0.31653	0.372608539368895	0.37174	1.55062128731	0.87895	.	.	.	0.338815	0.70804	T	-0.208331	0.19614	T	-0.0663391	0.65887	T	0.0957783388441354	0.11886	T	0.506949	0.16072	T	0.2115633	0.43484	0.3442252	0.60123	0.2115633	0.43484	0.3442252	0.60122	.	.	.	.	.	0.241	0.47535	B	.;.	.;.	2.450291	0.31553	18.78	0.98053470916860053	0.37890	0.93928	0.59599	D	AEDGBHCIJ	0.175372	0.30254	N	0.0823494648003706	0.45642	2.817205	0.162212944011888	0.47791	3.004	0.999999999570313	0.74766	0.006267	0.00052	3	0.093493	0.02558	3	0.47417	0.07244	0	0.273489	0.05413	2	.	.	4.83	4.83	0.61880	2.119000	0.41582	5.668000	0.49244	0.536000	0.24961	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	0.1977:0.0:0.0:0.8023	9.470	0.38004	645	0.63593	.;.	.	.	.	.	.	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	642.98	29	chr12	6867505	.	T	G	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.86;ReadPosRankSum=0.956;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,17:36:99:0|1:6867505_T_G:657,0,722:6867505	20	0	1	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	2/3:0,0,22,33,0,0,0:55:99:.:.:2144,2199,2485,1296,1341,1231,861,1197,0,1380,2199,2485,1341,1197,2485,2199,2485,1341,1197,2485,2485,2199,2485,1341,1197,2485,2485,2485	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	2/3:0,0,22,33,0,0,0:55:99:.:.:2144,2199,2485,1296,1341,1231,861,1197,0,1380,2199,2485,1341,1197,2485,2199,2485,1341,1197,2485,2485,2199,2485,1341,1197,2485,2485,2485	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	2/3:0,0,22,33,0,0,0:55:99:.:.:2144,2199,2485,1296,1341,1231,861,1197,0,1380,2199,2485,1341,1197,2485,2199,2485,1341,1197,2485,2485,2199,2485,1341,1197,2485,2485,2485	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	2/3:0,0,22,33,0,0,0:55:99:.:.:2144,2199,2485,1296,1341,1231,861,1197,0,1380,2199,2485,1341,1197,2485,2199,2485,1341,1197,2485,2485,2199,2485,1341,1197,2485,2485,2485	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	2/3:0,0,22,33,0,0,0:55:99:.:.:2144,2199,2485,1296,1341,1231,861,1197,0,1380,2199,2485,1341,1197,2485,2199,2485,1341,1197,2485,2485,2199,2485,1341,1197,2485,2485,2485	1	0	2	0
chr12	7066625	7066625	G	C	exonic	C1S	.	nonsynonymous SNV	C1S:NM_001346850:exon7:c.G478C:p.V160L	C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	738859	C1S-related_disorder|Complement_component_C1s_deficiency|Ehlers-Danlos_syndrome,_periodontal_type_2|not_provided	.|MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.006	B	0.041	B	0.002	N	0.888	N	0.47	N	0.29	T	-1.016	T	0.044	T	0.397	1.254	10.09	2.82	0.331	1.894	7.526	0.150	.	0.0002	0.00299521	0.0003	0.0005	0	0.0025	0	5.998e-05	0	0	0.0003169	49	154602	rs2239170	0.0010	0.0010	0.0010	0.0009	0.0334	0.0009	0.0009	0.0319	0.0313	0.0007	2.237e-05	0	0.0334	0	0.0009	2.446e-05	0.0003	5.806e-05	0.0006	0.0006	0.0006	0.0006	0.0112	0.0005	0.0004	0.0089	0.0080	0.0007	0	0	0	0.0112	0	0	1.47e-05	0	0	0.137	0.25979	T	0.83	0.05685	T	0.006	0.13644	B	0.041	0.23986	B	0.001654	0.38382	N	0.000000	0.887845	0.27935	N	0.395	0.12235	N	0.29	0.58897	T	-0.24	0.10833	N	0.199	0.28028	-1.0158	0.25078	T	0.044	0.19029	T	10	0.0066300035	0.00150	T	.	.	.	0.150	0.39571	.	.	0.530632850524	0.52711	0.2995537523824234	0.29868	0.242998774807	0.26804	0.436232924461	0.30062	T	0.040418	0.25519	T	-0.434291	0.01397	T	-0.352584	0.38908	T	0.00749798443730332	0.00087	T	0.814119	0.46793	T	0.16418761	0.36610	0.12114432	0.29231	0.18638858	0.40044	0.14856558	0.35112	-3.217	0.12689	T	0.3055844114630754	0.40321	0.296	0.52679	B	.;.;.;.;.	.;.;.;.;.	2.253153	0.28784	17.91	0.95691586546147411	0.27569	0.83358	0.42481	D	AEFBI	0.817322	0.73884	D	-0.832790146233257	0.12477	0.6084542	-0.668691653326194	0.17745	0.9449416	0.995733855006593	0.34294	0.614807	0.35715	0	0.610034	0.51514	0	0.616094	0.41390	0	0.530356	0.10902	0	.	.	5.6	2.82	0.32061	2.008000	0.40513	2.910000	0.35502	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.639000	0.32395	0.4176:0.0:0.5824:0.0	7.526	0.26822	707	0.57054	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	969.98	37	chr12	7066625	.	G	C	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=772;ExcessHet=0.0000;FS=2.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-8.530e-01;SOR=1.024	GT:AD:DP:GQ:PL	0/1:34,35:69:99:984,0,929	20	0	1	0
chr12	7210125	7210125	C	T	exonic	PEX5	.	nonsynonymous SNV	PEX5:NM_001374648:exon14:c.C1711T:p.R571C	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	489459	Peroxisome_biogenesis_disorder_2B|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	2.675	M	-1.69	D	0.622	D	0.742	D	0.918	4.797	27.1	5.1	2.659	5.914	18.705	0.812	0.187842931052	7.7e-05	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs372635542	1.779e-05	1.779e-05	2.722e-06	3.3e-05	0.0001	1.237e-05	1.051e-05	7.123e-05	5.481e-05	0	0	0	0	0	0	1.259e-05	1.656e-05	0.0001	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.973	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	-1.69	0.82985	D	-7.47	0.95394	D	0.931	0.94668	0.622	0.92183	D	0.742	0.91177	D	10	0.91211313	0.90575	D	0.187843	0.85964	D	0.812	0.93931	.	.	0.925969750452	0.92521	0.8564900530578679	0.85612	0.996931653358	0.74268	0.771281838417	0.77617	T	0.87162	0.97232	D	0.245763	0.78202	D	0.351913	0.90391	D	0.933996856212616	0.60115	D	0.997067	0.98870	D	0.9125579	0.92534	0.6779074	0.81081	0.9125579	0.92535	0.6779074	0.81082	-11.08	0.80528	D	.	.	0.917	0.83976	P	.;.;.;.;.;.	.;.;.;.;.;.	5.826710	0.93721	33	0.99942050583078856	0.99824	0.98690	0.85623	D	AEFBI	0.835359	0.75327	D	0.795255192267667	0.85806	8.687988	0.746054290053443	0.85862	8.708891	0.999999981106916	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.1	5.1	0.68917	4.944000	0.63262	7.564000	0.60548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.732000	0.35165	0.0:1.0:0.0:0.0	18.705	0.91597	.	.	.;.;.;.;.;.	.	.	.	.	.	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	953.98	37	chr12	7210125	.	C	T	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.342;DP=816;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-1.007e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:49,40:89:99:968,0,1195	20	0	1	0
chr12	9893095	9893095	C	T	exonic	KLRF2	.	nonsynonymous SNV	KLRF2:NM_001190765:exon4:c.C293T:p.T98M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	1.845	L	1.1	T	-0.962	T	0.139	T	0.391	3.300	17.09	2.33	1.650	-0.144	8.238	0.082	0.00646076189535	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs184171143	2.024e-05	1.915e-05	2.284e-05	1.758e-05	2.525e-05	1.404e-05	1.209e-05	6.73e-06	5.18e-06	0	0	0.0003	0	8.856e-05	0	1.206e-05	3.457e-05	2.525e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.49	0.72568	M	1.1	0.39050	T	-3.57	0.68999	D	0.292	0.33030	-0.9619	0.38819	T	0.139	0.45734	T	7	0.3011326	0.47656	T	0.006461	0.17014	T	0.082	0.23913	0.564	0.68499	0.273070737957	0.26916	0.24065691084354113	0.23979	.	.	0.404463708401	0.25689	T	0.205602	0.56471	T	-0.192406	0.21906	T	-0.386376	0.34977	T	0.849195778369904	0.50096	D	0.573543	0.20534	T	0.30446163	0.53302	0.28622434	0.54630	0.30446163	0.53302	0.28622434	0.54629	-8.018	0.61193	D	.	.	0.210	0.43775	B	.	.	3.461618	0.48248	22.6	0.99821336667331928	0.90414	0.03239	0.08258	N	AEFI	0.037224	0.05085	N	-0.293349395973298	0.29405	1.630306	-0.425316966997606	0.24257	1.327325	1.38069521865557E-4	0.05486	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.33	2.33	0.27981	-0.120000	0.10633	1.623000	0.27698	0.333000	0.19617	0.056000	0.21631	0.003000	0.18671	0.988000	0.63387	0.0:1.0:0.0:0.0	8.238	0.30800	889	0.27310	C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-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	909.98	37	chr12	9893095	.	C	T	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-5.010e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:42,40:82:99:924,0,937	20	0	1	0
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	0/1:109,13,0:122:58:58,0,3297,385,3336,3721	4	3	11	0
chr12	11353347	11353347	T	0	exonic	PRB1	.	.	.	.	.	9	207	2	0	8	10	0.00480769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3832.93	201	chr12	11353347	.	T	C,*	3832.93	.	AC=2,3;AF=0.067,0.100;AN=30;BaseQRankSum=1.82;DP=4251;ExcessHet=0.0840;FS=5.948;InbreedingCoeff=0.3842;MLEAC=3,4;MLEAF=0.100,0.133;MQ=54.28;MQRankSum=2.23;QD=4.99;ReadPosRankSum=2.17;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:194,69,0:263:99:.:.:1636,0,5270,2215,5477,7692	11	0	2	6
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	0/1:109,44,0:153:99:.:.:1106,0,3990,1551,3976,5704	2	8	6	3
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE,	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,75,0:76:57:0|1:11353474_C_CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT:2718,0,57,2961,308,4023:11353474	8	3	1	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,75,0:76:57:0|1:11353474_C_CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT:2718,0,57,2961,308,4023:11353474	8	3	1	7
chr12	14806358	14806358	T	A	exonic	SMCO3	.	nonsynonymous SNV	SMCO3:NM_001013698:exon2:c.A323T:p.D108V,	.	.	429	1081	11	1	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.028	U	1.000	D	0.345	N	2.51	T	-1.048	T	0.015	T	0.305	2.116	13.03	3.93	0.919	1.830	7.999	0.075	0.0148101114526	0.0023	0.00219649	0.0022	0.0009	0.0017	0	0.0002	0.0031	0.0056	0.0015	0.0023092	357	154602	rs139378466	0.0025	0.0025	0.0024	0.0025	0.0027	0.0024	0.0024	0.0026	0.0026	0.0005	0.0023	0.0062	0	0.0004	0.0026	0.0027	0.0029	0.0013	0.0020	0.0020	0.0021	0.0020	0.0031	0.0019	0.0018	0.0027	0.0026	0.0006	0	0.0028	0.0058	0	0	0.0068	0.0031	0.0024	0.0010	0.002	0.72154	D	0.008	0.67890	D	0.0	0.02946	B	0.001	0.04355	B	0.027676	0.25720	U	0.181927	1	0.81001	D	0.345	0.11182	N	2.51	0.14284	T	-4.64	0.79316	D	0.219	0.24510	-1.0485	0.14818	T	0.015	0.05849	T	10	0.0068520904	0.00156	T	0.01481	0.35167	T	0.075	0.21907	.	.	0.101711395817	0.09552	0.7404788375968961	0.73992	0.0336946848938	0.03538	0.576851665974	0.49642	T	0.01042	0.09410	T	-0.518793	0.00447	T	-0.521978	0.20094	T	0.0576532758263408	0.06794	T	0.710329	0.32115	T	0.45509708	0.64364	0.47957408	0.69857	0.45509708	0.64365	0.47957408	0.69857	-3.879	0.21988	T	.	.	0.133	0.28807	B	.	.	2.694520	0.35184	19.83	0.98479322266389002	0.41954	0.84461	0.43543	D	AEFBI	0.210189	0.33610	N	-0.324376812644855	0.28224	1.555038	-0.145530136779802	0.33581	1.922384	0.981547362596277	0.30277	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.11	3.93	0.44666	2.585000	0.45776	5.838000	0.50223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.181:0.0:0.0:0.819	7.999	0.29447	720	0.55521	.	.	.	.	.	.	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	3004.98	35	chr12	14806358	.	T	A	3004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.324e+00;DP=935;ExcessHet=0.0000;FS=2.164;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=1.08;SOR=0.840	GT:AD:DP:GQ:PL	0/1:123,119:242:99:3019,0,3289	20	0	1	0
chr12	16551226	16551226	C	T	exonic	LMO3	.	nonsynonymous SNV	LMO3:NM_001001395:exon4:c.G434A:p.R145H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.748	P	0.000	D	1.000	D	0.69	N	1.68	T	-0.942	T	0.117	T	0.603	3.793	19.26	5.28	2.429	7.167	18.900	0.243	0.039140301991	.	.	8.245e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs777979802	4.868e-06	1.026e-05	5.547e-06	4.184e-06	3.033e-05	2.02e-06	1.3e-06	7.3e-07	2e-07	3.033e-05	0	0	0	1.873e-05	0	2.751e-06	1.677e-05	1.166e-05	6.578e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.027	0.58613	D	0.848	0.46844	P	0.29	0.40682	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	1.3	0.35590	T	-0.76	0.21215	N	0.382	0.51226	-0.9424	0.42234	T	0.117	0.41275	T	10	0.28789634	0.46371	T	0.03914	0.58635	D	0.243	0.54921	0.504	0.59770	0.498896430806	0.49526	0.43412315816201086	0.43329	2.43300071254	0.97277	0.76084625721	0.76054	T	0.09143	0.38793	T	-0.0890566	0.38231	T	-0.268846	0.47937	T	0.933633029460907	0.60053	D	0.969903	0.89229	D	0.2423076	0.47156	0.14305143	0.34011	0.2423076	0.47156	0.14305143	0.34010	-6.134	0.51274	T	.	.	0.229	0.49196	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.836108	0.78912	27.0	0.9982498186935822	0.90764	0.99692	0.98713	D	AEFI	0.969435	0.99183	D	0.470038105301828	0.65348	4.811279	0.551443510158475	0.71497	5.663936	0.999999992871398	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	7.245000	0.77681	5.986000	0.52250	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.900	0.92412	940	0.13648	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1136.98	33	chr12	16551226	.	C	T	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=763;ExcessHet=0.0000;FS=0.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.564;SOR=0.818	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1151,0,866	20	0	1	0
chr12	21765733	21765733	G	A	exonic	KCNJ8	.	nonsynonymous SNV	KCNJ8:NM_004982:exon3:c.C1265T:p.S422L,	.	.	0	1515	7	0	0	7	0.00230491	.	.	167406	Cardiovascular_phenotype|Brugada_syndrome|KCNJ8-related_disorder|not_provided|Hypertrophic_cardiomyopathy	MedGen:CN230736|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.013	B	0.004	B	0.243	N	1.000	N	0	N	-1.12	T	-0.952	T	0.199	T	0.254	0.811	8.258	4.45	1.487	2.410	9.499	0.187	0.0194152558076	0.0015	0.000199681	0.0016	9.615e-05	0.0010	0.0001	0	0.0025	0.0033	0.0010	0.0014618	226	154602	rs72554071	0.0011	0.0011	0.0010	0.0011	0.0045	0.0010	0.0010	0.0032	0.0027	0.0002	0.0007	0.0310	0	7.488e-05	0.0045	0.0004	0.0028	0.0009	0.0012	0.0012	0.0013	0.0011	0.0006	0.0011	0.0010	0.0005	0.0004	0.0001	0.0011	0.0005	0.0328	0	9.432e-05	0.0034	0.0006	0.0028	0.0006	0.21	0.19639	T	0.247	0.23914	T	0.013	0.16609	B	0.004	0.10090	B	0.243235	0.15666	N	0.650929	1	0.08975	N	0.345	0.11182	N	-1.12	0.77593	T	-0.62	0.18248	N	0.104	0.08786	-0.9524	0.40555	T	0.199	0.55499	T	10	0.0040097833	0.00077	T	0.019415	0.41777	T	0.187	0.46274	.	.	0.425148423609	0.42132	0.6132004647008038	0.61252	0.932174325602	0.71871	0.362425088882	0.19739	T	0.264	0.63551	T	-0.364457	0.03884	T	-0.356891	0.38413	T	0.0120851045618877	0.00192	T	0.684232	0.29249	T	0.068914935	0.15055	0.08378752	0.19227	0.07222775	0.16049	0.07127815	0.15244	-3.866	0.21794	T	.	.	.	.	.	.	.	2.304429	0.29492	18.14	0.93033629694933062	0.22635	0.44658	0.27366	N	AEFBI	0.602448	0.59431	D	-0.670389501032449	0.16868	0.8632347	-0.556396499684281	0.20637	1.112709	0.00978492626089505	0.11913	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	4.45	0.53365	2.485000	0.44909	5.319000	0.48286	0.654000	0.53741	0.077000	0.22263	0.978000	0.30204	0.917000	0.45243	0.1593:0.0:0.8407:0.0	9.499	0.38171	746	0.52331	.	.	.	.	.	.	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	0.02381	2932.98	34	chr12	21765733	.	G	A	2932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.86;DP=934;ExcessHet=0.0000;FS=2.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.428;SOR=0.543	GT:AD:DP:GQ:PL	0/1:127,110:237:99:2947,0,3066	20	0	1	0
chr12	30726042	30726042	G	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001385538:exon7:c.C761G:p.P254R	.	.	436	1007	74	5	0	84	0.0400381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	0.980	D	1.65	L	2.21	T	0.305	D	0.569	D	0.82	3.816	19.38	4.72	1.348	4.493	15.950	0.205	.	0.0062	0.0111821	0.0092	0.0008	0.0064	0	0.0041	0.0086	0.0188	0.0251	0.0086092	1331	154602	rs73079976	0.0075	0.0076	0.0068	0.0082	0.0250	0.0074	0.0073	0.0228	0.0225	0.0009	0.0059	0.0069	2.561e-05	0.0043	0.0250	0.0068	0.0083	0.0237	0.0062	0.0062	0.0061	0.0064	0.0255	0.0059	0.0058	0.0218	0.0204	0.0012	0	0.0109	0.0101	0.0002	0.0027	0.0340	0.0075	0.0142	0.0255	0.007	0.72154	D	0.012	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000820	0.41658	D	0.244148	0.870816	0.39633	D	2.175	0.60977	M	1.72	0.80301	T	-4.19	0.76822	D	0.718	0.76481	0.305	0.87642	D	0.569	0.84399	D	10	0.0067775548	0.00154	T	.	.	.	0.205	0.49236	.	.	0.648614416266	0.64569	0.5195242696993202	0.51875	0.359186557532	0.37614	0.546116471291	0.45309	T	0.181502	0.53319	T	-0.0767919	0.40235	T	0.135171	0.79231	D	0.0256440277215045	0.01358	T	0.950705	0.86917	D	.	.	.	.	.	.	.	.	-13.034	0.89503	D	.	.	0.856	0.83681	P	.;.;.;.;.	.;.;.;.;.	4.065732	0.60367	24.2	0.99821863177600145	0.90502	0.62678	0.31854	D	ALL	0.618364	0.60420	D	0.593248100385037	0.72752	5.855505	0.574672674676995	0.73129	5.920273	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.62	4.72	0.59248	3.892000	0.55947	7.436000	0.58833	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.864:0.136	15.950	0.79616	917	0.20147	.;.;.;.;.	.	.	.	.	.	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	1353.11	34	chr12	30726042	.	G	C	1353.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.455;DP=800;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=2.01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:36,27:63:99:568,0,793	19	0	2	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,29,2:60:99:.:.:343,0,450,399,523,940	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,29,2:60:99:.:.:343,0,450,399,523,940	2	0	14	4
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.014	B	0.05	B	0.000	D	1.000	D	0.75	N	-1.01	T	-0.745	T	0.273	T	0.19	2.602	14.66	4.49	2.533	5.695	14.373	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	835.24	35	chr12	39764778	.	G	A	835.24	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-2.930e+00;DP=1096;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2409;MLEAC=5;MLEAF=0.156;MQ=60.00;MQRankSum=0.00;QD=2.54;ReadPosRankSum=0.399;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,15:60:1:.:.:1,0,978	10	0	6	5
chr12	40367664	40367664	G	A	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon51:c.G7483A:p.V2495I,	.	.	30	1485	7	0	0	7	0.00235136	.	.	324728	not_provided|Autosomal_dominant_Parkinson_disease_8	MedGen:C3661900|MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060,Orphanet:411602	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.103	B	0.027	B	0.000	N	1.000	N	0.885	L	1.32	T	-1.052	T	0.056	T	0.283	2.042	12.79	1.26	-0.044	1.541	9.044	0.022	0.00343320907525	0.0002	0.000798722	0.0012	0	0.0004	0	0	0.0001	0	0.0080	0.0009573	148	154602	rs150062967	0.0006	0.0006	0.0004	0.0008	0.0082	0.0006	0.0006	0.0077	0.0075	0.0001	4.559e-05	0	2.549e-05	1.885e-05	0.0021	0.0001	0.0008	0.0082	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0.0002	0	0	0	0	0	0	0.0001	0.0005	0.0060	0.183	0.21718	T	0.238	0.24549	T	0.103	0.25884	B	0.027	0.21085	B	0.000201	0.47681	N	0.180568	0.97367	0.25534	N	0.71	0.18616	N	1.32	0.35219	T	-0.31	0.12099	N	0.105	0.08925	-1.0521	0.13818	T	0.056	0.23527	T	10	0.008224636	0.00187	T	0.003433	0.07725	T	0.022	0.04323	.	.	0.685966507736	0.68328	0.3195491980259057	0.31867	0.161546350324	0.18234	0.259788602591	0.04865	T	0.138615	0.47220	T	-0.51548	0.00467	T	-0.507113	0.21612	T	0.020248652370605	0.00725	T	0.729327	0.34443	T	0.09870768	0.23286	0.096570276	0.22951	0.09870768	0.23286	0.096570276	0.22950	-3.711	0.19481	T	0.2327476567871969	0.31503	0.067	0.02370	B	.	.	1.900903	0.24143	16.29	0.91485720313398411	0.20758	0.76231	0.37372	D	AEFI	0.190411	0.31764	N	-0.546262754479384	0.20601	1.087204	-0.409894505019044	0.24706	1.354478	0.00390683138488209	0.10332	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.3	1.26	0.20534	1.717000	0.37612	1.052000	0.23646	-0.135000	0.12811	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.3094:0.0:0.6906:0.0	9.044	0.35496	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	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	0.04762	1636.11	33	chr12	40367664	.	G	A	1636.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.60;DP=818;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.932;SOR=0.658	GT:AD:DP:GQ:PL	0/1:53,44:97:99:1018,0,1086	19	0	2	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	33722.39	1039	chr12	40482890	.	T	A,*	33722.39	.	AC=5,6;AF=0.208,0.250;AN=24;BaseQRankSum=0.827;DP=22349;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.5849;MLEAC=7,8;MLEAF=0.292,0.333;MQ=57.60;MQRankSum=-2.364e+01;QD=2.90;ReadPosRankSum=3.73;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:739,123,0:862:99:0|1:40482890_T_A:2320,0,29111,4543,29481,34024:40482890	1	0	5	9
chr12	40482938	40482938	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	12831.45	1036	chr12	40482938	.	C	T,*	12831.45	.	AC=5,1;AF=0.156,0.031;AN=32;BaseQRankSum=1.18;DP=20058;ExcessHet=1.7912;FS=0.805;InbreedingCoeff=-0.2537;MLEAC=6,1;MLEAF=0.188,0.031;MQ=58.43;MQRankSum=-2.514e+01;QD=1.97;ReadPosRankSum=-3.109e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:795,68,0:863:99:0|1:40482890_T_A:462,0,33177,2855,33382,36237:40482890	10	0	5	5
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	0/1:389,371,0:760:99:9857,0,10738,11024,11850,22875	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	0/1:356,344,0:700:99:9622,0,9768,10691,10799,21490	4	9	7	0
chr12	40485294	40485294	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.201e-06	2.053e-06	2.232e-06	0	1.314e-06	0	0	.	.	0	0	0	0	0	0	1.314e-06	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	0.025	7979.33	684	chr12	40485294	.	T	C	7979.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=7.20;DP=16934;ExcessHet=0.0000;FS=1.106;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=58.53;MQRankSum=6.56;QD=12.93;ReadPosRankSum=-4.139e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/1:341,276:617:99:7993,0,10401	19	0	1	1
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	0/2:784,0,25,0:809:99:.:.:935,1027,33785,0,32679,32601,2252,33917,32849,34970	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	0/2:784,0,25,0:809:99:.:.:935,1027,33785,0,32679,32601,2252,33917,32849,34970	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	0/2:761,0,16:777:99:.:.:756,646,32004,0,31354,31329	3	0	6	3
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	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	0.2222	243.92	150	chr12	40509053	.	T	A	243.92	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-5.870e-01;DP=3382;ExcessHet=0.6776;FS=1.041;InbreedingCoeff=-0.3078;MLEAC=6;MLEAF=0.333;MQ=59.49;MQRankSum=-1.058e+01;QD=0.36;ReadPosRankSum=2.61;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,12:149:92:0|1:40509053_T_A:92,0,5690:40509053	5	0	4	12
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	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	0.1667	223.58	151	chr12	40509056	.	G	A	223.58	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-8.510e-01;DP=3396;ExcessHet=0.3300;FS=1.041;InbreedingCoeff=-0.2842;MLEAC=5;MLEAF=0.278;MQ=59.51;MQRankSum=-1.061e+01;QD=0.46;ReadPosRankSum=2.69;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,12:149:92:0|1:40509053_T_A:92,0,5690:40509053	6	0	3	12
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	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	0.1667	232.05	153	chr12	40509061	.	G	C	232.05	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.618e+00;DP=3425;ExcessHet=0.3300;FS=1.041;InbreedingCoeff=-0.2751;MLEAC=5;MLEAF=0.278;MQ=59.52;MQRankSum=-1.068e+01;QD=0.48;ReadPosRankSum=2.62;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,12:147:98:0|1:40509053_T_A:98,0,5633:40509053	6	0	3	12
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	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	0.1667	235.27	153	chr12	40509062	.	A	C	235.27	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-9.720e-01;DP=3311;ExcessHet=0.3300;FS=1.049;InbreedingCoeff=-0.2775;MLEAC=5;MLEAF=0.278;MQ=59.52;MQRankSum=-1.068e+01;QD=0.48;ReadPosRankSum=2.59;SOR=0.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,12:146:99:0|1:40509053_T_A:101,0,5591:40509053	6	0	3	12
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	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	0.1111	135.05	163	chr12	40509076	.	G	A	135.05	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.145e+00;DP=3209;ExcessHet=0.1072;FS=1.064;InbreedingCoeff=-0.2414;MLEAC=4;MLEAF=0.222;MQ=59.56;MQRankSum=-1.104e+01;QD=0.44;ReadPosRankSum=2.23;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,11:141:50:0|1:40509076_G_A:50,0,5317:40509076	7	0	2	12
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	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	0.1111	95.14	165	chr12	40509081	.	T	C	95.14	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.490e-01;DP=3196;ExcessHet=0.1072;FS=1.075;InbreedingCoeff=-0.2346;MLEAC=3;MLEAF=0.167;MQ=59.60;MQRankSum=-1.111e+01;QD=0.31;ReadPosRankSum=2.04;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,10:144:17:0|1:40509076_G_A:17,0,5447:40509076	7	0	2	12
chr12	48202959	48202959	C	T	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.G334A:p.E112K,	.	.	426	1087	8	1	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.036	B	0.008	B	0.001	N	0.641	D	3.15	M	4.42	T	-1.142	T	0.015	T	0.3	1.231	9.990	3.03	0.776	2.747	10.076	0.110	0.0130829676447	0.0009	0.000599042	0.0007	0.0014	0.0003	0	0.0003	0.0006	0.0011	0.0016	0.0006921	107	154602	rs139287640	0.0006	0.0006	0.0005	0.0007	0.0063	0.0005	0.0005	0.0044	0.0038	0.0014	0.0004	0	0	0.0002	0.0063	0.0005	0.0006	0.0013	0.0009	0.0009	0.0010	0.0008	0.0019	0.0008	0.0007	0.0013	0.0012	0.0016	0	0.0008	0	0	0	0	0.0006	0.0024	0.0019	0.011	0.55530	D	0.018	0.59732	D	0.036	0.20732	B	0.008	0.13708	B	0.001369	0.39242	N	0.000000	0.640719	0.32873	D	2.79	0.81396	M	4.42	0.02177	T	-3.71	0.70674	D	0.296	0.33469	-1.1424	0.01271	T	0.015	0.06234	T	10	0.019116491	0.00423	T	0.013083	0.32199	T	0.110	0.31079	.	.	0.509583022956	0.50597	0.5561287259014127	0.55539	0.0289611678545	0.02984	0.241896286607	0.02963	T	0.010823	0.09734	T	-0.509294	0.00507	T	-0.523356	0.19955	T	0.0526913534350067	0.05966	T	0.642236	0.25428	T	0.45900226	0.64609	0.44578376	0.67714	0.45900226	0.64609	0.44578376	0.67715	-7.974	0.60892	D	.	.	0.317	0.54309	B	.	.	0.954667	0.13308	9.812	0.98544171865697927	0.42757	0.92933	0.56905	D	AEFDBCI	0.397452	0.47352	N	-0.48566313691321	0.22550	1.204859	-0.481073721941947	0.22675	1.232808	0.794603398362657	0.24076	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.83	3.03	0.34070	1.559000	0.35928	-0.073000	0.12273	-0.843000	0.02775	0.492000	0.26894	0.000000	0.08366	0.033000	0.13494	0.0:0.8457:0.0:0.1543	10.076	0.41535	736	0.53558	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	2025.98	37	chr12	48202959	.	C	T	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1255;ExcessHet=0.0000;FS=2.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-1.749e+00;SOR=0.718	GT:AD:DP:GQ:PL	0/1:70,70:140:99:2040,0,1754	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|1:47,26,0:73:99:0|1:52949249_G_A:950,0,1895,1092,1974,3065:52949249	0	0	20	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;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	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:68,24:92:99:105,0,1266	6	0	10	5
chr12	56101239	56101239	G	A	exonic	ERBB3	.	nonsynonymous SNV	ERBB3:NM_001982:exon27:c.G3380A:p.R1127H,	Lethal congenital contractural syndrome 2, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	725197	ERBB3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.87	P	0.000	D	1.000	D	0.975	L	-1.28	T	-0.297	T	0.283	T	0.449	4.682	25.9	6.17	2.941	5.279	17.796	0.310	.	7.7e-05	0.00379393	0.0008	0	0	0.0084	0	1.499e-05	0.0044	0.0010	0.0008344	129	154602	rs2271188	0.0005	0.0005	0.0004	0.0005	0.0120	0.0005	0.0004	0.0111	0.0107	0	4.472e-05	0.0004	0.0120	0	0.0002	3.867e-05	0.0014	0.0010	0.0007	0.0007	0.0007	0.0007	0.0116	0.0006	0.0006	0.0093	0.0084	2.41e-05	0	0.0018	0.0006	0.0116	0	0	2.941e-05	0.0057	0.0008	0.029	0.47745	D	0.193	0.59732	T	0.991	0.77913	D	0.635	0.61806	P	0.000226	0.47286	D	0.083689	0.999999	0.81001	D	1.585	0.39878	L	-1.33	0.81478	T	-1.77	0.44852	N	0.174	0.19459	-0.2970	0.75068	T	0.283	0.65458	T	10	0.008962393	0.00203	T	.	.	.	0.310	0.63162	.	.	0.954619617015	0.95414	0.3019822743100278	0.30111	1.07145803725	0.76827	0.540646791458	0.44537	T	0.456335	0.79514	T	-0.271583	0.11581	T	-0.15776	0.58553	T	0.0913640494094828	0.11379	T	0.725127	0.34400	T	0.041431516	0.06099	0.04690981	0.06640	0.049809422	0.08902	0.059955698	0.11338	-4.541	0.31421	T	.	.	0.278	0.51139	B	.;.;.;.;.	.;.;.;.;.	3.676149	0.52298	23.2	0.99946294083735165	0.99901	0.95052	0.63263	D	AEFDBI	0.815670	0.73759	D	0.584381881694755	0.72200	5.768336	0.646551783260694	0.78353	6.859412	0.999999999999594	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	5.510000	0.66737	7.615000	0.62066	-0.108000	0.15293	0.970000	0.34288	1.000000	0.68203	0.764000	0.36293	0.0:0.0:1.0:0.0	17.796	0.88482	462	0.78611	.;.;.;.;.	.	.	.	.	.	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	0.04762	2691.08	37	chr12	56101239	.	G	A	2691.08	.	AC=2;AF=0.048;AN=42;DP=969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.29;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2719,258,0	20	1	0	0
chr12	56106718	56106718	-	AA	splicing	PA2G4	NM_006191:exon2:c.217+2->AA	.	.	.	.	12	180	28	5	1	39	0.0954774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0014	0.0031	0.0003	0.0096	0.0002	0.0004	0.0028	0.0011	0.0002689	7	26028	rs34728522	0.0009	0.0013	0.0009	0.0009	0.0130	0.0009	0.0008	0.0120	0.0116	0.0040	0.0004	0.0006	0.0130	0.0003	0.0002	0.0003	0.0026	0.0011	0.0013	0.0014	0.0013	0.0013	0.0126	0.0011	0.0011	0.0101	0.0092	0.0016	0	0.0018	0.0006	0.0126	0	0	0.0002	0.0069	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	4355.8	33	chr12	56106718	.	T	TA,TAA	4355.8	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.16;DP=919;ExcessHet=0.0409;FS=3.717;InbreedingCoeff=0.2976;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-9.390e-01;SOR=0.623	GT:AD:DP:GQ:PL	2/2:2,7,55:72:9:2074,1445,1307,123,9,0	17	0	3	0
chr12	56138934	56138934	C	G	exonic	ESYT1	.	nonsynonymous SNV	ESYT1:NM_001184796:exon24:c.C2543G:p.S848W	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.978	D	0.731	P	0.412	N	0.982	N	1.65	L	-0.51	T	-0.760	T	0.174	T	0.431	2.578	14.58	4.33	2.406	3.868	12.513	0.312	.	.	0.00359425	0.0006	0	0	0.0066	0	1.499e-05	0.0044	0.0010	0.0007374	114	154602	rs79083300	0.0005	0.0005	0.0004	0.0005	0.0112	0.0004	0.0004	0.0104	0.0100	0	4.472e-05	0.0004	0.0112	0	0	1.349e-05	0.0018	0.0010	0.0007	0.0007	0.0007	0.0006	0.0108	0.0006	0.0005	0.0085	0.0077	2.407e-05	0	0.0016	0.0006	0.0108	0	0	1.47e-05	0.0066	0.0008	0.176	0.22312	T	0.01	0.65728	D	0.975	0.58756	D	0.673	0.55321	P	0.412054	0.12984	N	0.751846	0.982091	0.24989	N	2.32	0.66415	M	-0.51	0.70597	T	-2.66	0.57599	D	0.406	0.45520	-0.7602	0.57394	T	0.174	0.51737	T	10	0.0057319105	0.00128	T	.	.	.	0.312	0.63375	.	.	0.589813230912	0.58657	0.37745737568756366	0.37660	.	.	0.394630670547	0.24320	T	0.101409	0.40814	T	-0.338752	0.05474	T	-0.255085	0.49313	T	0.0727380858391694	0.09031	T	0.860814	0.55431	D	0.14128143	0.32561	0.13400665	0.32120	0.14128143	0.32561	0.13400665	0.32120	-7.659	0.58722	D	.	.	0.152	0.35788	B	.;.	.;.	3.871253	0.56201	23.7	0.97447235962417456	0.34012	0.48036	0.28117	N	AEFDBIJ	0.410742	0.48150	N	0.0451563198937624	0.43918	2.675622	-0.0998740218848403	0.35396	2.047333	0.999999994145174	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.33	4.33	0.51083	3.909000	0.56076	4.882000	0.45676	0.541000	0.25215	0.101000	0.22814	0.825000	0.27162	0.097000	0.18139	0.0:1.0:0.0:0.0	12.513	0.55359	310	0.87484	C2 domain|C2 domain|C2 domain|Extended synaptotagmin, C2B 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	3881.08	35	chr12	56138934	.	C	G	3881.08	.	AC=2;AF=0.048;AN=42;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.34;SOR=0.950	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3909,360,0	20	1	0	0
chr12	59775376	59775376	A	G	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.A1081G:p.T361A	.	.	429	1081	10	2	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	P	0.644	P	0.000	D	1.000	D	1.82	L	1.01	T	-0.989	T	0.145	T	0.496	3.834	19.47	3.33	0.479	5.203	11.077	0.189	0.0169708297731	0.0002	0.00179712	0.0015	9.61e-05	0.0005	0	0	0.0001	0.0022	0.0098	0.0012872	199	154602	rs143304922	0.0007	0.0007	0.0004	0.0010	0.0096	0.0007	0.0007	0.0091	0.0089	0	8.946e-05	3.826e-05	0	1.872e-05	0.0043	0.0001	0.0010	0.0096	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0065	0.0058	7.288e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0005	0.0086	0.02	0.52492	D	0.088	0.41913	T	0.868	0.47740	P	0.644	0.52249	P	0.000069	0.52346	D	0.198001	0.998489	0.46174	D	1.995	0.54099	M	1.01	0.41058	T	-1.99	0.48850	N	0.632	0.66615	-0.9891	0.32828	T	0.145	0.46823	T	9	0.010718942	0.00237	T	0.016971	0.38471	T	0.189	0.46613	.	.	0.577534042849	0.57422	0.45691763541533287	0.45609	0.200536113412	0.22454	0.504253149033	0.39420	T	0.183169	0.54321	T	-0.403557	0.02194	T	-0.344925	0.39786	T	0.0933221570739685	0.11607	T	0.90391	0.70896	D	0.54180837	0.69497	0.17784451	0.40414	0.54180837	0.69498	0.17784451	0.40413	-3.492	0.16320	T	.	.	0.214	0.50472	B	.;.;.;.;.	.;.;.;.;.	3.607230	0.50976	23.0	0.99684936706490079	0.79507	0.95673	0.65672	D	AEFI	0.543630	0.55888	D	0.213590797103061	0.51858	3.363847	0.184636665345029	0.49006	3.109056	0.00357927579864097	0.10184	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.77	3.33	0.37245	4.425000	0.59623	6.107000	0.53619	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.7452:0.0:0.0:0.2548	11.077	0.47257	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3814.08	33	chr12	59775376	.	A	G	3814.08	.	AC=2;AF=0.048;AN=42;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.32;SOR=1.227	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3842,354,0	20	1	0	0
chr12	68315024	68315024	C	T	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G583A:p.G195S	.	.	404	1110	8	0	0	8	0.00359066	.	.	2357063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.338	B	0.115	B	0.830	U	1.000	D	1.01	L	2.04	T	-1.105	T	0.043	T	0.059	0.719	7.828	3.31	1.122	0.953	10.861	0.023	0.00541390108865	0.0002	.	0.0001	0	0.0003	0	0	0.0002	0	6.057e-05	0.00011	17	154602	rs144852918	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0006	0.0005	0	1.872e-05	0.0016	9.532e-05	0.0002	0.0002	0.0001	0.0001	0.0001	6.728e-05	0.0003	6.514e-05	5.325e-05	0.0001	7.894e-05	0	0	0.0003	0	0	0	0	0.0002	0	0	0.479	0.08384	T	0.748	0.04877	T	0.338	0.33405	B	0.115	0.31843	B	0.829914	0.06936	U	1.198670	0.999792	0.20333	N	0.205	0.09354	N	2.04	0.20808	T	0.07	0.06138	N	0.109	0.11197	-1.1055	0.03486	T	0.043	0.18618	T	9	0.05632651	0.06297	T	0.005414	0.13893	T	0.023	0.04649	.	.	0.0762999501168	0.06990	0.06914594770923387	0.06852	0.0655717025688	0.07314	0.243989020586	0.03161	T	0.049687	0.28379	T	-0.566963	0.00231	T	-0.71803	0.04891	T	0.0154180391318784	0.00346	T	0.662034	0.27102	T	0.06483477	0.13796	0.06837326	0.14270	0.06483477	0.13796	0.06837326	0.14270	-3.174	0.12165	T	.	.	0.077	0.10739	B	.;.	.;.	1.451049	0.18718	13.89	0.28380979477497476	0.01454	0.20724	0.21145	N	AEFBI	0.074720	0.14985	N	-0.729873752788828	0.15185	0.7631115	-0.755862520560692	0.15578	0.8200134	0.657769230049849	0.22236	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.21	3.31	0.37025	0.974000	0.29033	0.946000	0.22888	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.9056:0.0:0.0944	10.861	0.46034	925	0.17918	.;.	.	.	.	.	.	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	6818.08	44	chr12	68315024	.	C	T	6818.08	.	AC=2;AF=0.048;AN=42;DP=1203;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.47;SOR=0.856	GT:AD:DP:GQ:PL	1/1:0,210:210:99:6846,630,0	20	1	0	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/3:5,0,0,6:11:22:68,80,119,80,119,119,0,39,39,22	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/3:5,0,0,6:11:22:68,80,119,80,119,119,0,39,39,22	3	0	8	0
chr12	92736528	92736528	C	T	exonic	PLEKHG7	.	nonsynonymous SNV	PLEKHG7:NM_001377329:exon6:c.C746T:p.S249F,	.	.	1308	213	0	1	0	2	0.0046729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0002393	37	154602	rs374119571	0.0009	0.0007	0.0009	0.0010	0.0069	0.0009	0.0009	0.0046	0.0038	0.0002	0.0020	0.0101	3.77e-05	0.0002	0.0069	0.0008	0.0021	0.0004	0.0013	0.0013	0.0013	0.0013	0.0025	0.0011	0.0011	0.0019	0.0017	0.0003	0	0.0025	0.0112	0	0.0006	0.0068	0.0012	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02568385	0.00755	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612239	0.23293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.46002	B	.	.	3.763770	0.54020	23.4	0.58610663107701022	0.06032	0.79698	0.39543	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.990451401318075	0.32159	0.164513	0.03853	0	0.195528	0.04277	0	0.060301	0.00762	0	0.062806	0.01542	0	0.776784	0.45955	5.43	4.54	0.55220	3.835000	0.55508	2.559000	0.33304	-0.176000	0.10722	0.995000	0.38783	0.980000	0.30356	0.114000	0.18915	0.0:0.9223:0.0:0.0777	13.199	0.59182	945	0.12563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	85.29	1	chr12	92736528	.	C	T	85.29	.	AC=2;AF=0.091;AN=22;DP=71;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3472;MLEAC=3;MLEAF=0.136;MQ=60.00;QD=21.32;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	10	1	0	10
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	0/1:14,18,0,0,0:32:99:628,0,484,670,538,1209,670,538,1209,1209,670,538,1209,1209,1209	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	0/1:14,18,0,0,0:32:99:628,0,484,670,538,1209,670,538,1209,1209,670,538,1209,1209,1209	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	0/1:14,18,0,0,0:32:99:628,0,484,670,538,1209,670,538,1209,1209,670,538,1209,1209,1209	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	0/1:14,18,0,0,0:32:99:628,0,484,670,538,1209,670,538,1209,1209,670,538,1209,1209,1209	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	0/4:133,0,0,0,13:146:99:.:.:128,531,6119,531,6119,6119,531,6119,6119,6119,0,5588,5588,5588,5549	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	0/4:133,0,0,0,13:146:99:.:.:128,531,6119,531,6119,6119,531,6119,6119,6119,0,5588,5588,5588,5549	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	0/4:133,0,0,0,13:146:99:.:.:128,531,6119,531,6119,6119,531,6119,6119,6119,0,5588,5588,5588,5549	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|2:70,0,17,0:87:99:0|1:103985728_A_ATTGAGAGC:487,700,3594,0,2894,2843,700,3594,2894,3594:103985728	11	0	2	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|2:0,0,23:23:69:1|1:111598949_GGCT_G:921,921,921,69,69,0:111598949	2	0	0	0
chr12	113174650	113174650	T	C	exonic	DDX54	.	nonsynonymous SNV	DDX54:NM_001111322:exon10:c.A1058G:p.Y353C	.	.	421	1076	23	2	0	27	0.012391	.	.	3214305	DDX54-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.721	P	0.509	P	0.000	D	1.000	D	2.385	M	2.75	T	-1.144	T	0.035	T	0.651	3.113	16.40	2.89	0.860	5.010	10.174	0.168	.	0.0055	0.00459265	0.0081	0.0017	0.0030	0	0.0033	0.0079	0.0104	0.0229	0.0075937	1174	154602	rs147338699	0.0081	0.0081	0.0077	0.0085	0.0216	0.0080	0.0079	0.0207	0.0204	0.0010	0.0027	0.0007	0	0.0031	0.0153	0.0082	0.0069	0.0216	0.0060	0.0060	0.0059	0.0060	0.0195	0.0056	0.0055	0.0163	0.0151	0.0013	0.0066	0.0048	0.0006	0.0002	0.0024	0.0136	0.0093	0.0061	0.0195	0.001	0.78490	D	0.002	0.79402	D	0.721	0.42361	P	0.509	0.47904	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	2.75	0.11622	T	-7.56	0.95216	D	0.634	0.64733	-1.1441	0.01212	T	0.035	0.15074	T	10	0.012401342	0.00267	T	.	.	.	0.168	0.42943	.	.	0.289847578895	0.28608	0.80917870018676	0.80872	1.15342620932	0.79294	0.77030390501	0.77471	T	0.649898	0.89363	D	-0.340216	0.05373	T	-0.244553	0.50352	T	0.0771233992701485	0.09615	T	0.970903	0.89805	D	0.7732722	0.82244	0.6463017	0.79319	0.7732722	0.82245	0.6463017	0.79320	-10.993	0.79702	D	.	.	0.483	0.63806	A	.;.	.;.	3.787968	0.54506	23.5	0.99774537716718648	0.86174	0.84068	0.43153	D	ALL	0.693729	0.65297	D	0.204167983758401	0.51401	3.321623	0.184206757599351	0.48982	3.107004	0.999999569695521	0.74766	0.77792	0.99625	0	0.67197	0.64623	0	0.854111	0.99894	0	0.636	0.56748	0	.	.	5.44	2.89	0.32713	4.982000	0.63547	3.999000	0.41057	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.574000	0.30748	0.2649:0.0:0.0:0.7351	10.174	0.42103	724	0.55085	.;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	0.02381	875.98	34	chr12	113174650	.	T	C	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.226e+00;DP=747;ExcessHet=0.0000;FS=1.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.552;SOR=0.425	GT:AD:DP:GQ:PL	0/1:18,33:51:99:890,0,526	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	0/2:44,0,47:93:99:1757,1902,3802,0,1914,1843	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	0/2:32,6,15,0,4,0:57:99:550,193,1256,0,1061,1355,659,1322,1210,1787,601,937,759,1429,1413,659,1322,1210,1787,1429,1787	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	0/2:32,6,15,0,4,0:57:99:550,193,1256,0,1061,1355,659,1322,1210,1787,601,937,759,1429,1413,659,1322,1210,1787,1429,1787	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	0/2:32,6,15,0,4,0:57:99:550,193,1256,0,1061,1355,659,1322,1210,1787,601,937,759,1429,1413,659,1322,1210,1787,1429,1787	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	0/2:32,6,15,0,4,0:57:99:550,193,1256,0,1061,1355,659,1322,1210,1787,601,937,759,1429,1413,659,1322,1210,1787,1429,1787	4	0	0	0
chr12	122729619	122729619	G	A	exonic	HCAR1	.	nonsynonymous SNV	HCAR1:NM_032554:exon1:c.C721T:p.L241F,	.	.	425	1073	24	0	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.983	D	0.037	N	1.000	N	2.23	M	0.99	T	-0.832	T	0.226	T	0.661	2.328	13.74	4.62	1.326	1.981	10.171	0.256	0.0188093097858	0.0010	0.00219649	0.0023	9.614e-05	0.0013	0	0.0003	0.0019	0.0055	0.0078	0.0022639	350	154602	rs140482291	0.0021	0.0021	0.0019	0.0024	0.0140	0.0021	0.0021	0.0116	0.0107	0.0007	0.0020	0.0081	0	0.0005	0.0140	0.0017	0.0028	0.0081	0.0016	0.0016	0.0015	0.0017	0.0066	0.0014	0.0014	0.0048	0.0042	0.0004	0	0.0019	0.0066	0	0.0003	0.0068	0.0019	0.0047	0.0066	0.011	0.55530	D	0.03	0.54159	D	0.998	0.73220	D	0.983	0.75793	D	0.037419	0.24405	N	0.295265	0.999998	0.08975	N	1.93	0.51437	L	0.99	0.41750	T	-2.22	0.49846	N	0.135	0.13198	-0.8322	0.53159	T	0.226	0.59108	T	10	0.007065475	0.00161	T	0.018809	0.40992	T	0.256	0.56694	.	.	0.637577279198	0.63459	0.30858399806346204	0.30771	0.650799847485	0.58349	0.424611747265	0.28471	T	0.140204	0.47462	T	-0.366664	0.03766	T	-0.294898	0.45261	T	0.0235094242187121	0.01085	T	0.69953	0.30934	T	0.22321285	0.44937	0.23477186	0.48703	0.22321285	0.44937	0.23477186	0.48702	-6.629	0.51274	T	.	.	0.204	0.42948	B	.	.	3.194699	0.43421	21.7	0.99814953146800689	0.89885	0.23035	0.21944	N	AEFBHCI	0.093794	0.18972	N	0.18923069861687	0.50682	3.255928	0.0251009080533347	0.40883	2.447117	0.999939323708171	0.46732	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	4.62	0.56946	0.098000	0.15027	3.535000	0.38974	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.608000	0.31589	0.0918:0.0:0.9082:0.0	10.171	0.42086	459	0.78817	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2200.98	34	chr12	122729619	.	G	A	2200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.290e-01;DP=826;ExcessHet=0.0000;FS=2.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.75;ReadPosRankSum=-5.380e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/1:46,78:124:99:2215,0,1186	20	0	1	0
chr12	123861023	123861023	C	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon38:c.C6407T:p.T2136M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.034	B	0.042	B	0.241	N	1.000	N	1.6	L	1.07	T	-1.009	T	0.096	T	0.105	0.321	5.742	1.99	-0.113	2.814	9.361	0.069	0.00730271558682	8.3e-05	.	1.657e-05	0	0	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs372604094	1.642e-05	1.642e-05	1.906e-05	1.375e-05	2.236e-05	1.111e-05	9.33e-06	1.093e-05	8.81e-06	0	2.236e-05	0	0	0	0	1.709e-05	4.969e-05	1.159e-05	1.973e-05	1.97e-05	3.856e-05	0	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	0.034	0.20480	B	0.042	0.24114	B	0.240912	0.15714	N	0.569325	1	0.08975	N	1.63	0.41750	L	.	.	.	.	.	.	.	.	-1.0088	0.27292	T	0.096	0.36107	T	10	0.08688903	0.14813	T	0.007303	0.19361	T	0.069	0.20116	.	.	0.104622674875	0.10061	0.1739697675666965	0.17316	0.159114722111	0.17954	0.246786475182	0.03437	T	0.004937	0.04364	T	-0.298246	0.08826	T	-0.602541	0.12598	T	0.0537201932055915	0.06142	T	0.50265	0.15781	T	0.018998364	0.00424	0.045687106	0.06204	0.018998364	0.00424	0.045687106	0.06203	-3.317	0.13958	T	.	.	0.062	0.01367	B	.;.	.;.	1.691359	0.21548	15.25	0.87223627802113757	0.17075	0.23830	0.22201	N	AEFBI	0.044625	0.07202	N	-0.800575777671166	0.13295	0.65397	-0.750690113536489	0.15705	0.8273246	9.49937795369835E-4	0.08042	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.59	1.99	0.25423	2.802000	0.47612	0.110000	0.14769	-0.715000	0.03906	0.997000	0.40164	0.000000	0.08366	0.537000	0.29868	0.0:0.2687:0.0:0.7313	9.361	0.37357	608	0.67185	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase 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	785.98	40	chr12	123861023	.	C	T	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e-01;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=0.544;SOR=0.696	GT:AD:DP:GQ:PL	0/1:41,33:74:99:800,0,1064	20	0	1	0
chr12	123873673	123873673	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon45:c.G7547A:p.R2516H	.	.	434	1082	6	0	0	6	0.00276498	.	.	753192	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.000	U	1.000	D	2.415	M	1.22	T	-0.592	T	0.253	T	0.706	4.749	26.6	5.51	2.599	7.952	19.417	0.441	.	.	0.00239617	0.0030	0	0.0002	0	0	1.823e-05	0.0013	0.0209	0.0020828	322	154602	rs552303091	0.0010	0.0010	0.0006	0.0015	0.0167	0.0010	0.0010	0.0159	0.0157	5.98e-05	6.755e-05	0	0	0.0003	0.0003	8.999e-06	0.0009	0.0167	0.0006	0.0006	0.0003	0.0010	0.0189	0.0005	0.0005	0.0158	0.0146	0	0	0	0	0	0.0002	0	4.409e-05	0.0005	0.0189	.	.	.	.	.	.	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.62929	U	0.000000	0.999994	0.58761	D	2.485	0.72352	M	.	.	.	.	.	.	.	.	-0.5919	0.65144	T	0.253	0.62258	T	10	0.010256082	0.00229	T	.	.	.	0.441	0.74447	0.571	0.69431	0.454987352986	0.45123	0.52873461296907	0.52797	0.301522529725	0.32488	0.682573199272	0.64638	T	0.032285	0.22418	T	-0.252847	0.13751	T	-0.122348	0.61609	T	0.135493998602017	0.15880	T	0.956904	0.83579	D	0.47960675	0.65876	0.5302917	0.72860	0.47960675	0.65877	0.5302917	0.72860	-5.596	0.42755	T	.	.	0.120	0.24700	B	.;.	.;.	4.589598	0.72579	25.9	0.99940904705676037	0.99797	0.98178	0.80279	D	AEFBI	0.926009	0.90646	D	0.83452232204339	0.88208	9.493442	0.800462108434435	0.89824	10.13727	0.996440659766596	0.34750	0.549168	0.22868	0	0.610034	0.51514	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.51	5.51	0.81769	8.078000	0.89313	7.416000	0.58680	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	19.417	0.94696	649	0.63102	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1036.98	39	chr12	123873673	.	G	A	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.285e+00;DP=817;ExcessHet=0.0000;FS=1.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-1.880e-01;SOR=0.539	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1051,0,1508	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	0/2:7,0,48,0,0:55:97:1370,1391,1632,0,241,97,1391,1632,241,1632,1391,1632,241,1632,1632	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	0/2:7,0,48,0,0:55:97:1370,1391,1632,0,241,97,1391,1632,241,1632,1391,1632,241,1632,1632	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	0/2:7,0,48,0,0:55:97:1370,1391,1632,0,241,97,1391,1632,241,1632,1391,1632,241,1632,1632	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	0/2:7,0,48,0,0:55:97:1370,1391,1632,0,241,97,1391,1632,241,1632,1391,1632,241,1632,1632	0	1	2	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	1/2:0,21,19,0,0:40:99:.:.:1679,696,604,663,0,561,1540,692,658,1490,1540,692,658,1490,1490	4	2	6	0
chr12	132696032	132696032	A	G	exonic	PXMP2	.	nonsynonymous SNV	PXMP2:NM_018663:exon3:c.A385G:p.M129V,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.248	B	0.064	B	0.000	D	1.000	D	2.04	M	-2.37	D	-0.241	T	0.556	D	0.843	1.220	9.951	4.07	0.825	4.671	9.362	0.603	0.0608010023908	.	.	4.972e-05	0	0	0	0	1.502e-05	0	0.0003	3.88e-05	6	154602	rs759389423	3.711e-05	3.694e-05	2.733e-05	4.702e-05	0.0007	2.907e-05	2.604e-05	0.0003	0.0003	0	0	0	0	0	0.0007	1.353e-05	3.324e-05	0.0004	6.577e-06	6.569e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.412	0.10083	T	0.209	0.45744	T	0.248	0.31148	B	0.064	0.27215	B	0.000000	0.84330	D	0.036602	1	0.81001	D	2.92	0.84325	M	-2.37	0.88220	D	-1.87	0.43717	N	0.5	0.53269	-0.2414	0.76590	T	0.556	0.83771	D	10	0.31846392	0.49244	T	0.060801	0.68123	D	0.603	0.84345	0.611	0.74418	0.395441342475	0.39163	0.5049186554633976	0.50413	0.0706192734653	0.07910	0.433945983648	0.29749	T	0.198484	0.55549	T	0.0935574	0.63587	D	0.216622	0.84003	D	0.198937308167013	0.20358	T	0.70513	0.31914	T	0.19299152	0.40990	0.15605001	0.36553	0.19299152	0.40990	0.15605001	0.36552	-6.234	0.48197	T	0.28060332096780033	0.37584	0.267	0.50138	B	.;.	.;.	2.376673	0.30503	18.46	0.91534051306791731	0.20810	0.95375	0.64475	D	AEFBI	0.814794	0.73692	D	-0.0548777595029683	0.39385	2.321743	0.056379262019533	0.42381	2.562428	0.560825645244543	0.21412	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.22	4.07	0.46726	4.642000	0.61079	5.780000	0.49798	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9137:0.0:0.0863:0.0	9.362	0.37364	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	888.98	36	chr12	132696032	.	A	G	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.373e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.130;SOR=0.591	GT:AD:DP:GQ:PL	0/1:38,38:76:99:903,0,1062	20	0	1	0
chr12	133121579	133121579	C	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.G340C:p.D114H,	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	.	.	.	.	3.08	T	-1.029	T	0.025	T	0.218	0.485	6.631	0.497	0.265	1.491	5.000	0.016	0.00525391171147	.	0.000399361	0.0027	0	0	0	0.0025	0.0042	0.0053	0.0022	0.0004657	72	154602	rs148080897	0.0015	0.0014	0.0014	0.0016	0.0126	0.0015	0.0014	0.0103	0.0094	9.495e-05	0.0010	0.0037	0	0.0043	0.0126	0.0014	0.0014	0.0021	0.0016	0.0016	0.0016	0.0017	0.0021	0.0015	0.0014	0.0018	0.0017	0.0001	0	0.0017	0.0026	0	0.0051	0	0.0021	0.0038	0.0006	0.008	0.58626	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.40313	L	3.08	0.08460	T	-4.32	0.76655	D	0.127	0.12055	-1.0288	0.20843	T	0.025	0.10866	T	5	0.006249815	0.00141	T	0.005254	0.13402	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.05119870933458279	0.05061	0.116064697105	0.13092	0.301476657391	0.10621	T	0.059445	0.31117	T	-0.592725	0.00161	T	-0.626291	0.10698	T	0.0661600689887891	0.08102	T	0.360464	0.08297	T	0.16370904	0.36530	0.1732918	0.39646	0.16370904	0.36529	0.1732918	0.39645	-6.752	0.52201	T	.	.	0.203	0.42863	B	.	.	2.106485	0.26808	17.25	0.98436527277746133	0.41464	0.10290	0.15837	N	AEFBI	0.057132	0.10617	N	-0.535498910583918	0.20940	1.107668	-0.720208325404347	0.16457	0.8707259	2.64431072120241E-4	0.06244	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.46	0.497	0.16109	-0.306000	0.08217	0.107000	0.14728	0.599000	0.40250	0.000000	0.06391	0.161000	0.23262	0.235000	0.22869	0.0:0.5982:0.1806:0.2211	5.000	0.13603	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	1405.98	48	chr12	133121579	.	C	G	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.287;DP=925;ExcessHet=0.0000;FS=4.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.857;SOR=0.737	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1420,0,1699	20	0	1	0
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S	.	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.003	B	0.004	B	0.000	D	0.875	D	1.355	L	2.52	T	-1.046	T	0.025	T	0.081	1.269	10.14	3.89	0.878	4.282	8.371	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	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	0	0	0	0	0.07143	439.72	33	chr13	19705699	.	T	C	439.72	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.880e-01;DP=1098;ExcessHet=0.3300;FS=2.966;InbreedingCoeff=-0.0761;MLEAC=3;MLEAF=0.071;MQ=46.46;MQRankSum=-4.174e+00;QD=1.07;ReadPosRankSum=-1.520e+00;SOR=1.114	GT:AD:DP:GQ:PL	0/1:102,12:114:15:15,0,2780	18	0	3	0
chr13	20189095	20189095	T	C	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.A487G:p.M163V,	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	YES	0	1517	5	0	0	5	0.00164528	.	.	34240	Nonsyndromic_genetic_hearing_loss|not_provided|Hearing_impairment|not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Autosomal_recessive_nonsyndromic_hearing_loss_1A	MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MedGen:CN169374|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.91	P	0.493	P	0.000	D	1.000	A	1.065	L	-3.46	D	0.757	D	0.753	D	0.95	3.688	18.74	5.47	2.199	7.948	15.850	0.869	0.136638597594	.	0.000399361	0.0002	0	8.669e-05	0	0	0.0001	0	0.0006	0.0001423	22	154602	rs80338949	9.098e-05	9.098e-05	6.262e-05	0.0001	0.0010	7.824e-05	7.305e-05	0.0007	0.0007	2.987e-05	0	3.826e-05	2.519e-05	0	0.0010	3.058e-05	0.0002	0.0009	0.0001	0.0001	8.994e-05	0.0001	0.0004	7.086e-05	5.744e-05	7.293e-05	3.03e-05	0	0.0077	6.538e-05	0	0	0	0.0034	8.819e-05	0	0.0004	0.228	0.18434	T	0.168	0.30631	T	0.91	0.50240	P	0.493	0.47443	P	0.000000	0.84330	D	0.000000	1	0.81001	A	1.21	0.30464	L	-3.46	0.94508	D	-2.16	0.48850	N	0.931	0.93605	0.757	0.93876	D	0.753	0.91584	D	9	0.22010407	0.38698	T	0.136639	0.81913	D	0.869	0.96059	.	.	0.90055262458	0.89956	0.888205943506865	0.88789	0.0819803898389	0.09232	0.548286676407	0.45616	T	0.698456	0.91296	D	0.169962	0.71120	D	0.382208	0.91508	D	0.222906827926636	0.21608	T	0.890911	0.62511	D	0.6709068	0.76481	0.58499855	0.75935	0.71046257	0.78634	0.63297105	0.78583	-4.344	0.28789	T	0.2314200946753116	0.31317	0.367	0.57665	A	.;.;.	.;.;.	3.774401	0.54236	23.5	0.99279528565013442	0.57869	0.97246	0.73556	D	AEFBCI	0.961360	0.98255	D	0.495358156547513	0.66819	4.999655	0.569371384536678	0.72757	5.86017	0.999999999999769	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	6.201000	0.72052	3.537000	0.38984	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.850	0.78700	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2339.98	39	chr13	20189095	.	T	C	2339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.193e+00;DP=998;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-3.830e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:74,90:164:99:2354,0,2169	20	0	1	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	1/2:2,30,20,0:52:99:1285,444,350,643,0,647,1225,479,702,1245	1	1	4	0
chr13	25096284	25096286	AGA	-	exonic	PABPC3	.	nonframeshift deletion	PABPC3:NM_030979:exon1:c.86_88del:p.K30del,	.	.	432	1066	24	0	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0015	9.614e-05	0.0010	0.0002	0	0.0017	0.0022	0.0033	0.0003458	9	26028	rs773401999	0.0012	0.0012	0.0010	0.0013	0.0104	0.0011	0.0011	0.0083	0.0075	0.0002	0.0014	0.0170	2.519e-05	0	0.0104	0.0006	0.0027	0.0038	0.0010	0.0010	0.0010	0.0010	0.0046	0.0009	0.0008	0.0031	0.0026	0.0002	0	0.0012	0.0144	0	0	0.0068	0.0006	0.0052	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6500.07	33	chr13	25096283	.	GAGA	G	6500.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.557;DP=988;ExcessHet=0.1072;FS=6.724;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=19.70;ReadPosRankSum=1.12;SOR=0.443	GT:AD:DP:GQ:PL	0/1:94,90:184:99:3496,0,3676	19	0	2	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|1:221,47,0:268:99:0|1:25097005_A_G:1308,0,9138,1974,9280,11253:25097005	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|2:221,0,47:268:99:0|1:25097005_A_G:1308,1974,11253,0,9280,9138:25097005	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|2:221,0,47:268:99:0|1:25097005_A_G:1308,1974,11253,0,9280,9138:25097005	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|1:212,47,0:259:99:0|1:25097005_A_G:1335,0,8740,1974,8881,10855:25097005	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	0/2:37,2,16:55:99:.:.:609,495,1878,0,1361,1398	14	0	0	0
chr13	38689807	38689807	C	A	exonic	FREM2	.	stopgain	FREM2:NM_207361:exon1:c.C2463A:p.Y821X,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	A	.	.	.	.	.	.	.	.	.	8.996	41	2.77	0.811	0.169	11.610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000775	0.41888	D	0.249082	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.759	0.75742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.099867	0.96141	35	0.99651990985997241	0.77380	0.70237	0.34508	D	AEFBCI	0.321798	0.42448	N	0.484280776219817	0.66171	4.915861	0.306440176747559	0.55919	3.754643	0.999877768147035	0.44625	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.8	2.77	0.31614	0.343000	0.19686	0.400000	0.17989	0.594000	0.32500	0.641000	0.28093	0.032000	0.21310	0.967000	0.53440	0.0:0.7767:0.0:0.2233	11.610	0.50311	938	0.14419	.	.	.	.	.	.	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	93.12	37	chr13	38689807	.	C	A	93.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.397e+00;DP=1521;ExcessHet=0.1072;FS=246.519;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.446;SOR=8.468	GT:AD:DP:GQ:PL	0/1:148,37:185:94:94,0,4228	19	0	2	0
chr13	38691375	38691375	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.G4031A:p.R1344H,	Fraser syndrome, Autosomal recessive	YES	2	1496	24	0	0	24	0.00795756	.	.	334576	FREM2-related_disorder|Isolated_cryptophthalmia|Fraser_syndrome_2|Congenital_anomaly_of_kidney_and_urinary_tract|not_provided|not_specified|Congenital_diaphragmatic_hernia	.|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.527	P	0.085	B	0.000	D	1.000	D	1.275	L	0.57	T	-0.999	T	0.122	T	0.741	3.091	16.32	5.81	2.746	7.985	17.017	0.218	0.00828160330622	0.0019	0.00199681	0.0037	0.0008	0.0010	0.0001	0.0056	0.0036	0.0055	0.0090	0.003454	534	154602	rs143044921	0.0030	0.0030	0.0028	0.0033	0.0093	0.0030	0.0029	0.0088	0.0086	0.0005	0.0009	0.0015	2.519e-05	0.0063	0.0049	0.0027	0.0032	0.0093	0.0025	0.0025	0.0023	0.0028	0.0050	0.0023	0.0022	0.0034	0.0033	0.0003	0	0.0014	0.0020	0.0002	0.0055	0.0068	0.0038	0.0009	0.0050	0.191	0.21066	T	0.194	0.28120	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.57	0.54347	T	-2.35	0.51968	N	0.649	0.66016	-0.9987	0.30283	T	0.122	0.42357	T	10	0.00933212	0.00211	T	0.008282	0.21928	T	0.218	0.51265	.	.	0.574670332726	0.57135	0.5975888075421643	0.59689	0.194995630506	0.21838	0.400006681681	0.25069	T	.	.	.	-0.223529	0.17514	T	-0.0864691	0.64427	T	0.0267143234646331	0.01504	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23360	B	.	.	4.336853	0.66495	25.0	0.99908027591708826	0.97801	0.98242	0.80858	D	AEFBI	0.877977	0.80295	D	0.325135943766178	0.57442	3.911485	0.481565071732744	0.66771	4.995424	0.999999999820025	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	8.113000	0.89423	9.943000	0.82671	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1269:0.8731:0.0	17.017	0.86294	938	0.14419	.	.	.	.	.	.	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	2860.11	37	chr13	38691375	.	G	A	2860.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.21;DP=1330;ExcessHet=0.1072;FS=3.289;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.38;SOR=0.813	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1505,0,2415	19	0	2	0
chr13	42300459	42300459	A	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.A1713C:p.K571N,	.	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	0.993	D	2.075	M	1.91	T	-0.948	T	0.131	T	0.21	2.894	15.64	3.19	1.068	1.235	9.029	0.086	0.0244543123646	0.0015	0.000199681	0.0018	0.0005	0.0007	0.0002	0	0.0026	0.0022	0.0013	0.0017852	276	154602	rs63263761	0.0024	0.0024	0.0024	0.0024	0.0029	0.0023	0.0023	0.0028	0.0028	0.0003	0.0003	0	5.038e-05	0.0003	0.0007	0.0029	0.0013	0.0017	0.0015	0.0015	0.0018	0.0011	0.0028	0.0013	0.0012	0.0024	0.0023	0.0005	0	0.0003	0	0	0.0004	0	0.0028	0.0009	0.0008	0.001	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.99	0.78936	D	0.000002	0.62929	D	0.056177	0.993	0.41837	D	2.215	0.62545	M	1.91	0.23283	T	-1.37	0.33998	N	0.61	0.62696	-0.9482	0.41279	T	0.131	0.44148	T	10	0.049710065	0.04598	T	0.024454	0.47448	T	0.086	0.25016	0.291	0.25241	0.612931835457	0.60981	0.5791552588564759	0.57844	0.328080897004	0.34932	0.658848464489	0.61243	T	0.124958	0.45035	T	-0.487294	0.00672	T	-0.467613	0.25774	T	0.0274438557142892	0.01608	T	0.880312	0.59828	D	0.30550373	0.53394	0.34610397	0.60283	0.30550373	0.53394	0.34610397	0.60283	-5.3	0.39943	T	.	.	0.621	0.69747	P	.	.	2.945607	0.39182	20.9	0.99836413770655441	0.91714	0.89102	0.49369	D	AEFBCI	0.332199	0.43168	N	0.456105258242521	0.64550	4.712106	0.403818553170386	0.61800	4.385578	0.996985623668977	0.35173	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.63	3.19	0.35720	1.219000	0.32083	2.612000	0.33583	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7917:0.0:0.2083:0.0	9.029	0.35412	689	0.59000	.	.	.	.	.	.	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	2519.98	35	chr13	42300459	.	A	C	2519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.562e+00;DP=1100;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.38;ReadPosRankSum=-1.444e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,65:130:99:0|1:42300459_A_C:2534,0,2534:42300459	20	0	1	0
chr13	42300460	42300460	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G1714C:p.G572R,	.	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.075	M	0.96	T	-0.584	T	0.274	T	0.914	3.549	18.10	5.63	2.803	7.504	20.043	0.325	0.0502184205417	0.0015	0.000199681	0.0018	0.0005	0.0007	0.0002	0	0.0026	0.0022	0.0013	0.0017852	276	154602	rs74623853	0.0024	0.0024	0.0024	0.0024	0.0029	0.0023	0.0023	0.0028	0.0028	0.0003	0.0003	0	5.038e-05	0.0003	0.0007	0.0029	0.0013	0.0017	0.0015	0.0015	0.0018	0.0011	0.0028	0.0013	0.0012	0.0024	0.0023	0.0005	0	0.0003	0	0	0.0004	0	0.0028	0.0009	0.0008	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000005	0.62929	D	0.060487	1	0.81001	D	2.255	0.64187	M	0.96	0.42888	T	-2.8	0.59226	D	0.904	0.90476	-0.5844	0.65443	T	0.274	0.64546	T	10	0.13056836	0.24847	T	0.050218	0.64147	D	0.325	0.64725	0.336	0.32491	0.524456804389	0.52091	0.5809211186057059	0.58021	0.331336736303	0.35210	0.717214345932	0.69641	T	0.141083	0.47595	T	-0.0673264	0.41755	T	0.135641	0.79261	D	0.0337307783289981	0.02593	T	0.958204	0.84269	D	0.61634964	0.73568	0.6605272	0.80110	0.61634964	0.73569	0.6605272	0.80111	-5.447	0.41369	T	.	.	0.837	0.79107	P	.	.	4.654354	0.74232	26.1	0.99912715898164861	0.98167	0.97201	0.73286	D	AEFBCI	0.871059	0.79228	D	0.849951053904342	0.89105	9.836831	0.841100586641926	0.92485	11.45386	0.999999995138716	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.595000	0.81968	11.909000	0.99543	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.043	0.97597	689	0.59000	.	.	.	.	.	.	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	2519.98	35	chr13	42300460	.	G	C	2519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.150e-01;DP=1101;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.38;ReadPosRankSum=-1.381e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,65:130:99:0|1:42300459_A_C:2534,0,2534:42300459	20	0	1	0
chr13	45549921	45549921	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon13:c.A1618G:p.T540A,	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.997	N	1.59	L	2.83	T	-1.087	T	0.049	T	0.458	4.019	20.6	5.69	2.169	4.253	12.338	0.156	.	0.0031	0.00159744	0.0054	0.0005	0	0	0	0.0120	0	0.0015	0.0014942	231	154602	rs138019495	0.0046	0.0044	0.0046	0.0045	0.0137	0.0045	0.0044	0.0112	0.0103	0.0007	0.0050	0.0338	0	0.0003	0.0137	0.0044	0.0060	0.0018	0.0032	0.0032	0.0035	0.0029	0.0041	0.0030	0.0029	0.0037	0.0036	0.0007	0	0.0036	0.0288	0	0	0.0102	0.0041	0.0071	0.0010	0.026	0.46910	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.997368	0.22689	N	2.365	0.68172	M	2.83	0.10771	T	-2.79	0.59059	D	0.616	0.63204	-1.0875	0.05960	T	0.049	0.21026	T	9	0.008849382	0.00200	T	.	.	.	0.156	0.40720	.	.	0.238705975628	0.23479	0.44365976478026536	0.44283	.	.	0.385409414768	0.23020	T	0.021439	0.16695	T	-0.456514	0.01033	T	-0.427023	0.30274	T	0.030507663835992	0.02067	T	0.439356	0.12115	T	0.22631073	0.45309	0.246806	0.50198	0.22631073	0.45309	0.246806	0.50197	-7.945	0.60694	D	.	.	0.201	0.42506	B	.	.	3.981063	0.58523	24.0	0.99785391619804342	0.87131	0.95332	0.64308	D	AEFBI	0.475758	0.51946	N	0.642509673075055	0.75883	6.385696	0.643250272920954	0.78111	6.810606	0.981287287864448	0.30242	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.69	5.69	0.88346	2.942000	0.48711	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.338	0.54406	704	0.57414	.	.	.	.	.	.	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	928.98	33	chr13	45549921	.	T	C	928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.814;DP=787;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-5.000e-02;SOR=0.927	GT:AD:DP:GQ:PL	0/1:41,37:78:99:943,0,1076	20	0	1	0
chr13	46895722	46895722	G	T	exonic	HTR2A	.	stopgain	HTR2A:NM_000621:exon2:c.C185A:p.S62X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	.	.	.	.	0.136	N	1.000	A	.	.	.	.	.	.	.	.	.	7.138	38	5.7	2.688	2.968	15.347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136357	0.18449	N	0.494436	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.893	0.89242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518762	0.94859	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	8.848748	0.98108	38	0.99510317709855978	0.68558	0.87896	0.47596	D	AEFBI	0.048264	0.08217	N	0.79143061957133	0.85567	8.614413	0.652908153675004	0.78827	6.955367	0.99999678137226	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.209000	0.50824	9.906000	0.82388	0.676000	0.76740	0.790000	0.29595	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.347	0.74059	917	0.20147	.;.;.	.	.	.	.	.	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	43.98	36	chr13	46895722	.	G	T	43.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.205e+00;DP=974;ExcessHet=0.0000;FS=66.931;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.600;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,22:181:58:0|1:46895722_G_T:58,0,6063:46895722	20	0	1	0
chr13	49220340	49220340	G	A	exonic	MLNR	.	startloss	MLNR:NM_001507:exon1:c.G3A:p.M1?,	.	.	433	1058	29	2	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.963	D	0.549	P	0.001	U	1.000	D	.	.	-0.36	T	-0.323	T	0.335	T	0.827	2.899	15.66	4.34	1.960	1.434	13.991	0.420	.	.	0.00479233	0	0	.	0	.	0	0	0	0.0006404	99	154602	rs372763744	0.0062	0.0056	0.0058	0.0066	0.0177	0.0060	0.0060	0.0168	0.0164	0.0007	0.0085	0.0036	0.0001	0.0089	0.0117	0.0057	0.0070	0.0177	0.0048	0.0048	0.0052	0.0045	0.0156	0.0045	0.0044	0.0128	0.0117	0.0008	0	0.0064	0.0035	0	0.0068	0.0276	0.0062	0.0071	0.0156	0.02	0.49613	D	0.148	0.32675	T	0.963	0.55692	D	0.549	0.49194	P	0.000765	0.41888	U	0.104565	0.999962	0.52935	D	.	.	.	-0.36	0.68754	T	-1.02	0.26843	N	0.783	0.77978	-0.3234	0.74327	T	0.335	0.70182	T	9	0.015151739	0.00318	T	.	.	.	0.420	0.72930	0.977	0.99785	0.847761603604	0.84629	0.4019045423288962	0.40106	.	.	.	.	.	0.026416	0.19553	T	-0.167037	0.25684	T	0.00354358	0.70565	D	0.0671573362189728	0.08246	T	0.9	0.65058	D	0.61442816	0.73465	0.45621848	0.68392	0.61442816	0.73466	0.45621848	0.68392	-9.405	0.70266	D	.	.	.	.	.	.	.	2.523876	0.32617	19.10	0.98712100844934947	0.45069	0.76434	0.37486	D	AEFDBHCIJ	0.017900	0.00502	N	0.176614935791642	0.50078	3.201316	0.135532556535436	0.46379	2.884915	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.34	4.34	0.51267	0.962000	0.28877	6.214000	0.55048	0.582000	0.30178	0.817000	0.29947	1.000000	0.68203	0.028000	0.12845	0.0:0.0:1.0:0.0	13.991	0.63881	660	0.61921	.	.	.	.	.	.	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	501.11	23	chr13	49220340	.	G	A	501.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.413e+00;DP=524;ExcessHet=0.1072;FS=4.874;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=1.12;SOR=0.145	GT:AD:DP:GQ:PL	0/1:12,10:22:99:311,0,419	19	0	2	0
chr13	49630893	49630893	G	A	exonic	ARL11	.	stopgain	ARL11:NM_138450:exon2:c.G446A:p.W149X,	.	.	416	1056	49	1	0	51	0.0235784	.	.	702719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.810	27.2	5.32	2.490	3.559	17.994	.	.	0.0080	0.00579073	0.0099	0.0011	0.0073	0	0.0068	0.0133	0.0165	0.0100	0.0096894	1498	154602	rs34301344	0.0097	0.0097	0.0095	0.0098	0.0225	0.0095	0.0095	0.0193	0.0181	0.0017	0.0078	0.0214	0	0.0062	0.0225	0.0101	0.0097	0.0107	0.0080	0.0080	0.0080	0.0079	0.0112	0.0076	0.0074	0.0106	0.0103	0.0016	0.0329	0.0097	0.0187	0.0004	0.0063	0.0238	0.0112	0.0104	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.259	0.29313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275648	0.80940	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.128608	0.98504	39	0.99204731995395834	0.55381	0.95789	0.66160	D	AEFDBI	0.082690	0.16746	N	0.707159327269664	0.80103	7.220512	0.539516920279059	0.70672	5.53964	0.999999996113154	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.32	5.32	0.75377	3.180000	0.50595	11.047000	0.85249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.527000	0.29637	0.0:0.0:1.0:0.0	17.994	0.89101	414	0.81871	.	.	.	.	.	rs34301344	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	5609.68	38	chr13	49630893	.	G	A	5609.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.798;DP=1082;ExcessHet=0.3300;FS=2.490;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-8.600e-02;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,77:137:99:.:.:2059,0,1476	18	0	3	0
chr13	51739117	51739117	G	A	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon7:c.G667A:p.V223I,	.	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.01	B	0.000	D	1.000	D	1.07	L	0.42	T	-1.040	T	0.062	T	0.044	1.148	9.675	5.32	2.941	5.740	7.247	0.111	.	0.0052	0.00359425	0.0023	0.0150	0.0023	0	0	0.0009	0.0011	0.0017	0.0021539	333	154602	rs77486739	0.0012	0.0013	0.0012	0.0012	0.0143	0.0012	0.0012	0.0132	0.0128	0.0143	0.0024	0.0013	0	1.875e-05	0.0137	0.0007	0.0031	0.0016	0.0049	0.0049	0.0052	0.0047	0.0142	0.0046	0.0045	0.0133	0.0129	0.0142	0	0.0041	0.0012	0	0	0.0102	0.0010	0.0062	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049499	0.999829	0.49512	D	0.77	0.19370	N	0.42	0.56937	T	0.3	0.04091	N	0.099	0.08088	-1.0401	0.17283	T	0.062	0.25994	T	10	0.006444901	0.00146	T	.	.	.	0.111	0.31313	.	.	0.436780212511	0.43300	0.03989879060847398	0.03935	0.292032833551	0.31608	0.546645700932	0.45383	T	0.011824	0.10494	T	-0.547364	0.00303	T	-0.547351	0.17580	T	0.019515675990676	0.00655	T	0.818018	0.47523	T	0.0341658	0.03783	0.054201543	0.09276	0.0341658	0.03782	0.054201543	0.09275	-0.516	0.00593	T	.	.	0.059	0.00861	B	.	.	2.512268	0.32452	19.05	0.38941181998068136	0.02657	0.89001	0.49211	D	AEFBI	0.280583	0.39437	N	-0.0793378337852234	0.38299	2.241043	0.16210152155543	0.47785	3.003696	0.999999999245909	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	6.17	5.32	0.75377	5.889000	0.69508	8.565000	0.77582	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2059:0.0:0.7941:0.0	7.247	0.25302	906	0.23090	WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1520.98	33	chr13	51739117	.	G	A	1520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=1.29;SOR=0.648	GT:AD:DP:GQ:PL	0/1:80,65:145:99:1535,0,2027	20	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:61,30:96:67:67,0,947	5	0	15	1
chr13	98521776	98521776	G	A	exonic	STK24	.	nonsynonymous SNV	STK24:NM_003576:exon1:c.C77T:p.T26M,	.	.	.	.	.	.	.	.	.	0.0002	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.063	B	0.038	B	.	.	1.000	D	0	N	-0.61	T	-0.998	T	0.139	T	0.151	0.033	4.183	1.59	0.487	1.300	6.040	0.063	0.16062451393	.	.	8.245e-06	9.617e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs775447860	4.771e-06	5.612e-06	3.493e-06	5.839e-06	5.652e-05	1.27e-06	3.5e-07	9.5e-07	3.6e-07	5.652e-05	0	0	0	0	0	5.712e-06	0	0	6.581e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.078	0.33923	T	0.105	0.38016	T	0.063	0.23376	B	0.038	0.23361	B	.	.	.	.	1	0.81001	D	0	0.06538	N	-0.61	0.71779	T	0.21	0.04776	N	0.171	0.18239	-0.9982	0.30423	T	0.139	0.45791	T	9	0.10951829	0.20433	T	0.160625	0.84059	D	0.063	0.18251	0.223	0.14665	0.494013581214	0.49034	0.267405203572658	0.26653	0.655370170623	0.58582	.	.	.	0.047857	0.27847	T	-0.222738	0.17621	T	-0.376196	0.36166	T	0.0869894420204776	0.10857	T	0.207979	0.02486	T	0.050053786	0.08985	0.0693039	0.14584	0.050053786	0.08984	0.0693039	0.14584	-5.266	0.39606	T	.	.	0.107	0.20078	B	.	.	1.704276	0.21705	15.31	0.80679826295799062	0.13317	0.42895	0.26979	N	AEFDBHCI	0.094839	0.19170	N	-0.762877655968355	0.14286	0.7103884	-0.674546069380328	0.17598	0.9364753	0.999731820994669	0.42341	0.421363	0.06395	0	0.550933	0.16991	0	0.37387	0.06007	3	0.613276	0.41899	0	.	.	2.8	1.59	0.22622	1.283000	0.32843	0.972000	0.23065	-0.124000	0.13482	0.994000	0.38300	0.998000	0.33993	0.113000	0.18872	0.0:0.0:0.2768:0.7232	6.040	0.18954	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	1027.98	34	chr13	98521776	.	G	A	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=800;ExcessHet=0.0000;FS=2.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.939;SOR=0.674	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1042,0,1052	20	0	1	0
chr13	109140432	109140432	G	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon32:c.G4220A:p.R1407H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.069	N	1.000	N	0.69	N	0.87	T	-1.047	T	0.078	T	0.212	0.536	6.903	1.9	0.372	-0.086	7.307	0.040	0.00429514466575	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262632475	2.838e-06	4.104e-06	1.407e-06	4.292e-06	1.206e-05	6.6e-07	4.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.745e-06	0	1.206e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36310	T	0.434	0.13634	T	0.0	0.02946	B	0.0	0.01387	B	0.069053	0.02228	N	2.815490	1	0.08975	N	0.745	0.18958	N	0.87	0.46412	T	-0.91	0.24460	N	0.015	0.00407	-1.0466	0.15361	T	0.078	0.31072	T	9	0.078783244	0.12596	T	0.004295	0.10404	T	0.040	0.10527	0.361	0.36548	0.354648800996	0.35079	0.13851628065401286	0.13774	0.74495331588	0.63459	0.541201710701	0.44615	T	0.026505	0.27260	T	-0.362757	0.03976	T	-0.563881	0.16014	T	0.0526106009399876	0.05953	T	.	.	.	0.039810725	0.05566	0.042385496	0.05034	0.039810725	0.05566	0.042385496	0.05034	-4.773	0.34275	T	0.4190325336970469	0.50809	0.125	0.26357	B	.;.;.	.;.;.	0.381724	0.07536	4.186	0.95969425444753587	0.28326	0.04086	0.09547	N	AEFDBI	0.081957	0.16590	N	-0.969835667473015	0.09253	0.4371405	-0.970254164624888	0.10456	0.526786	0.999767194748889	0.42728	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.72	1.9	0.24770	0.192000	0.16902	-0.669000	0.07943	0.507000	0.23093	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1004:0.4176:0.4819:0.0	7.307	0.25627	982	0.03397	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	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	1561.08	33	chr13	109140432	.	G	A	1561.08	.	AC=2;AF=0.048;AN=42;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.91;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1589,162,0	20	1	0	0
chr13	113404072	113404072	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G4118A:p.R1373Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1175940521	0.0002	0.0006	0.0002	0.0002	0.0024	0.0002	0.0002	0.0012	0.0009	6.948e-05	0.0024	0.0015	6.119e-05	0.0011	0.0011	0.0001	0.0003	0.0010	0.0011	0.0036	0.0012	0.0009	0.0021	0.0008	0.0007	0.0008	0.0006	0.0010	0	0.0016	0.0075	0.0021	0.0010	0	0.0004	0.0068	0	.	.	.	0.392	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	0.06473833	0.08630	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00652	0.05951	T	.	.	.	.	.	.	.	.	.	0.494351	0.15306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	0.023703	0.04450	1.173	0.56905517594466126	0.05653	0.00019	0.00214	N	AEFBI	.	.	.	.	.	.	.	.	.	0.9873297687184	0.31238	0.056701	0.00814	0	0.085267	0.02369	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0518733	0.10782	2.74	-0.191	0.12601	-2.302000	0.01217	.	.	-1.856000	0.00566	0.000000	0.06391	.	.	0.000000	0.00833	0.1706:0.1117:0.176:0.5417	1.443	0.02216	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	0.09524	379.15	37	chr13	113404072	.	C	T,*	379.15	.	AC=2,2;AF=0.048,0.048;AN=42;DP=2873;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=2,2;MLEAF=0.048,0.048;MQ=42.22;QD=0.38;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,18,0:18:50:.:.:407,50,0,408,51,408	18	1	0	0
chr13	113404072	113404072	C	0	exonic	LOC101928841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	379.15	37	chr13	113404072	.	C	T,*	379.15	.	AC=2,2;AF=0.048,0.048;AN=42;DP=2873;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=2,2;MLEAF=0.048,0.048;MQ=42.22;QD=0.38;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,18,0:18:50:.:.:407,50,0,408,51,408	18	1	0	0
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,42,0:42:99:.:.:1351,126,0,1351,126,1351	4	5	6	3
chr14	19747467	19747467	C	T	exonic	OR4Q3	.	nonsynonymous SNV	OR4Q3:NM_172194:exon1:c.C40T:p.L14F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.865	P	0.386	B	0.048	U	1.000	N	1.335	L	7.6	T	-0.662	T	0.001	T	0.33	1.376	10.53	4.32	2.238	1.043	14.326	0.113	0.00402871539646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230555829	2.065e-06	8.893e-06	1.37e-06	2.766e-06	4.751e-05	5.5e-07	1.5e-07	7.87e-06	2.95e-06	0	4.751e-05	3.906e-05	0	0	0	0	0	0	6.582e-06	6.57e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.521	0.07235	T	0.491	0.11515	T	0.865	0.47557	P	0.386	0.44011	B	0.048111	0.23282	U	0.211883	0.921477	0.27282	N	1.825	0.47900	L	7.6	0.00354	T	-1.54	0.37375	N	0.479	0.51405	-0.6617	0.62201	T	0.001	0.00318	T	10	0.20370671	0.36535	T	0.004029	0.09587	T	0.113	0.31778	0.589	0.71749	0.238705975628	0.23479	0.08334783652779561	0.08268	.	.	0.481939524412	0.36324	T	0.011164	0.09998	T	-0.213481	0.18892	T	-0.544427	0.17865	T	0.782861411571503	0.45229	D	0.79872	0.44372	T	0.14641547	0.33518	0.11176384	0.26962	0.14641547	0.33518	0.11176384	0.26961	-5.743	0.44074	T	.	.	0.131	0.28948	B	.;.	.;.	2.312658	0.29604	18.18	0.99761544863867602	0.85091	0.47688	0.28039	N	AEFGBI	0.138864	0.26029	N	0.0180985914597247	0.42677	2.576024	0.044960424297849	0.41827	2.519547	0.00128826430663138	0.08410	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.32	4.32	0.50899	0.877000	0.27756	-3.679000	0.02611	0.584000	0.30380	0.080000	0.22340	0.000000	0.08366	0.976000	0.56436	0.0:1.0:0.0:0.0	14.326	0.66081	994	0.00715	.;.	.	.	.	.	.	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	0.025	43.33	69	chr14	19747467	.	C	T	43.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.305e+00;DP=1215;ExcessHet=0.0000;FS=58.534;InbreedingCoeff=-0.0372;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=-9.110e-01;SOR=6.325	GT:AD:DP:GQ:PL	0/1:92,27:119:57:57,0,1587	19	0	1	1
chr14	24123015	24123015	C	A	exonic	DCAF11	.	nonsynonymous SNV	DCAF11:NM_001163484:exon14:c.C1444A:p.H482N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	3.745	H	-1.45	T	0.784	D	0.775	D	0.704	4.635	25.4	5.33	2.778	6.737	16.560	0.809	0.193495999084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297015208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.568e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.006	0.72224	D	0.99	0.73220	D	0.921	0.68788	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.525	0.99052	H	-1.45	0.80899	T	-6.33	0.91609	D	0.86	0.85660	0.784	0.94219	D	0.775	0.92353	D	10	0.9579358	0.95171	D	0.193496	0.86307	D	0.809	0.93816	0.824	0.93592	0.85649186809	0.85511	0.6594570802713323	0.65882	2.9596807467	0.99163	0.669818639755	0.62812	T	0.160838	0.50484	T	0.250944	0.78689	D	0.122687	0.78412	D	0.99898761510849	0.95793	D	.	.	.	0.86711246	0.88634	0.80800146	0.88773	0.86711246	0.88636	0.80800146	0.88774	-17.455	0.99244	D	.	.	0.970	0.91596	P	.;.;.;.;.	.;.;.;.;.	4.972758	0.82304	27.8	0.99199157102063118	0.55231	0.94268	0.60628	D	AEFBHCI	0.895752	0.83610	D	0.97865948886177	0.95050	13.265	0.90064286568061	0.95601	13.779	0.999999999999992	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	6.723000	0.74552	7.594000	0.61341	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.560	0.84401	895	0.25842	WD40-repeat-containing domain;WD40-repeat-containing 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	2119.98	34	chr14	24123015	.	C	A	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.630e-01;DP=867;ExcessHet=0.0000;FS=2.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.394;SOR=0.941	GT:AD:DP:GQ:PL	0/1:90,82:172:99:2134,0,2366	20	0	1	0
chr14	24369886	24369886	G	C	exonic	NFATC4	.	nonsynonymous SNV	NFATC4:NM_001198965:exon2:c.G488C:p.G163A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.106	B	0.028	B	0.035	N	1.000	D	1.1	L	2.5	T	-1.041	T	0.023	T	0.312	-1.016	0.238	2.88	0.764	6.002	5.059	0.065	0.00303407710471	.	.	9.562e-06	0	0	0	0	1.718e-05	0	0	6.5e-06	1	154602	rs767549810	6.169e-06	6.156e-06	6.818e-06	5.512e-06	8.1e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.1e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.013	0.54683	D	0.0	0.92824	D	0.003	0.26037	B	0.005	0.21332	B	0.035258	0.24668	N	0.240807	0.944955	0.26675	N	0	0.06538	N	2.5	0.14408	T	-0.25	0.23372	N	0.216	0.25377	-1.0414	0.16890	T	0.023	0.09968	T	10	0.12099093	0.22927	T	0.003034	0.06517	T	0.065	0.18881	0.266	0.21261	0.311889312631	0.30795	0.36967912360475663	0.36881	0.885137563501	0.69946	0.468043684959	0.34412	T	0.102108	0.40951	T	-0.193849	0.21696	T	-0.491047	0.23282	T	0.122010176189655	0.14625	T	.	.	.	0.034892127	0.04004	0.0360071	0.02962	0.034892127	0.04004	0.0360071	0.02962	-3.986	0.23594	T	.	.	0.086	0.12465	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.106313	0.26800	17.24	0.11940875477908797	0.00194	0.97080	0.72572	D	AEFDBI	0.620830	0.60574	D	-0.295005273804389	0.29339	1.626214	-0.198408606878406	0.31595	1.789541	0.999990827025107	0.74766	0.732398	0.92422	0	0.693144	0.66847	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	3.8	2.88	0.32617	4.719000	0.61629	4.953000	0.46294	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.1184:0.2185:0.6631:0.0	5.059	0.13885	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	749.98	39	chr14	24369886	.	G	C	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=1103;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.891;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,22:75:99:0|1:24369877_G_C:764,0,2070:24369877	20	0	1	0
chr14	45226775	45226775	G	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon10:c.C1808A:p.T603K,	.	.	877	636	8	1	0	10	0.00780031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.863	P	0.979	N	0.515	N	1.5	L	2.02	T	-0.989	T	0.083	T	0.253	2.131	13.08	2.94	0.610	1.568	5.273	0.058	.	7.8e-05	0.00399361	0.0057	0	0	0	0	0.0013	0.0039	0.0164	0.0014295	221	154602	rs144591732	0.0012	0.0013	0.0007	0.0017	0.0156	0.0012	0.0011	0.0148	0.0145	3.758e-05	0.0003	0.0020	0	0	0.0034	0.0003	0.0015	0.0156	0.0010	0.0010	0.0006	0.0015	0.0168	0.0009	0.0008	0.0138	0.0128	7.223e-05	0	0.0004	0.0032	0	0	0.0103	0.0007	0.0014	0.0168	0.021	0.49117	D	0.051	0.47828	T	0.998	0.73220	D	0.863	0.61398	P	0.979405	0.07830	N	1.011430	0.514574	0.31619	N	1.78	0.46185	L	2.02	0.21119	T	-1.35	0.33598	N	0.131	0.12627	-0.9885	0.32978	T	0.083	0.32671	T	10	0.0066874623	0.00152	T	.	.	.	0.058	0.16647	.	.	0.344017737713	0.34012	0.17169480644439244	0.17089	0.0285527149791	0.02937	0.577752172947	0.49770	T	0.002494	0.01884	T	-0.494596	0.00613	T	-0.470906	0.25418	T	0.0670183516689708	0.08227	T	0.412859	0.10744	T	0.07779437	0.17678	0.10648939	0.25619	0.07779437	0.17678	0.10648939	0.25619	-2.134	0.03732	T	.	.	0.1	0.17146	B	.	.	2.316029	0.29649	18.19	0.9555788179128617	0.27231	0.69889	0.34367	D	AEFBI	0.100684	0.20239	N	0.261643419797473	0.54217	3.587877	0.193644771548225	0.49497	3.152246	0.00906498830387248	0.11790	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	3.91	2.94	0.33188	1.593000	0.36297	1.219000	0.24962	0.590000	0.31872	0.987000	0.36337	0.910000	0.28117	0.990000	0.65344	0.2161:0.0:0.7839:0.0	5.273	0.14948	788	0.46569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1495.11	35	chr14	45226775	.	G	T	1495.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.503;DP=815;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.424;SOR=0.664	GT:AD:DP:GQ:PL	0/1:30,27:57:99:682,0,755	19	0	2	0
chr14	55138184	55138184	C	A	exonic	LGALS3	.	nonsynonymous SNV	LGALS3:NM_002306:exon3:c.C158A:p.A53D	.	.	416	1073	31	2	0	35	0.0160477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.109	B	0.031	B	0.768	N	1.000	N	2.31	M	3.54	T	-0.900	T	0.207	T	0.376	2.023	12.72	0.524	-0.427	0.520	13.127	0.130	.	0.0015	0.00798722	0.0058	0.0003	0.0006	0	0	0.0020	0.0071	0.0328	0.0050581	782	154602	rs201924703	0.0033	0.0033	0.0025	0.0042	0.0291	0.0033	0.0032	0.0281	0.0277	0.0004	0.0010	0.0072	0	1.884e-05	0.0132	0.0016	0.0044	0.0291	0.0021	0.0021	0.0016	0.0026	0.0298	0.0019	0.0018	0.0259	0.0244	0.0005	0.0011	0.0020	0.0069	0.0002	0	0.0102	0.0014	0.0033	0.0298	0.004	0.65419	D	0.062	0.45318	T	0.109	0.26142	B	0.031	0.21939	B	0.767646	0.09572	N	0.903066	1	0.08975	N	3.16	0.88528	M	0.32	0.58468	T	-4.93	0.81755	D	0.412	0.45237	-0.8996	0.48034	T	0.207	0.56581	T	10	0.004808992	0.00102	T	.	.	.	0.130	0.35528	.	.	0.602985972322	0.59981	0.5503381023068328	0.54959	0.0885378025442	0.10014	0.487728774548	0.37124	T	0.160339	0.70105	T	-0.386193	0.02846	T	-0.305204	0.44173	T	0.106454618515583	0.13053	T	0.79912	0.44420	T	0.37960795	0.59288	0.19941917	0.43822	0.37960795	0.59288	0.19941917	0.43821	-12.984	0.89298	D	.	.	0.336	0.62767	B	.;.;.	.;.;.	1.812654	0.23033	15.86	0.8394795148226204	0.15010	0.10011	0.15632	N	AEFDBHCI	0.211168	0.33699	N	-1.02846673017558	0.08016	0.3744216	-1.10042699446044	0.07693	0.3751844	0.999990175683471	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.76	0.524	0.16260	0.707000	0.25379	0.522000	0.19173	-0.172000	0.11096	0.000000	0.06391	0.001000	0.17328	0.007000	0.07825	0.0:0.5225:0.4133:0.0642	13.127	0.58778	888	0.27761	.;.;.	.	.	.	.	.	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	1944.98	34	chr14	55138184	.	C	A	1944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.760e+00;DP=856;ExcessHet=0.0000;FS=8.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=0.196;SOR=0.958	GT:AD:DP:GQ:PL	0/1:47,77:124:99:1959,0,1256	20	0	1	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	0/1:48,25:73:99:231,0,890	0	0	21	0
chr14	58365301	58365301	G	A	splicing	ARID4A	NM_023001:exon20:c.3211+1G>A;NM_023000:exon20:c.3211+1G>A;NM_002892:exon20:c.3211+1G>A	.	.	.	.	431	1077	13	1	0	15	0.00691563	1.0000	0.932	265402	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.580	18.24	5.37	2.522	8.290	19.092	.	.	0.0048	0.00199681	0.0041	0.0016	0.0017	0	0.0036	0.0059	0.0035	0.0028	0.0042755	661	154602	rs62621193	0.0058	0.0058	0.0059	0.0057	0.0116	0.0057	0.0057	0.0094	0.0086	0.0013	0.0019	0.0098	0	0.0038	0.0116	0.0066	0.0051	0.0029	0.0037	0.0037	0.0041	0.0032	0.0060	0.0034	0.0033	0.0055	0.0053	0.0010	0	0.0022	0.0081	0.0002	0.0034	0.0034	0.0060	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0639939	0.60112	T	0.327108	0.89389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.550151	0.95389	35	0.98911125578790615	0.48381	0.99635	0.98202	D	AEFBI	.	.	.	1.1821638468762	0.99370	22.22698	1.03610099662319	0.99211	21.24358	0.999999999820252	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.125526	0.03468	0	0.117559	0.03655	0	0.983059	0.89644	5.37	5.37	0.76949	8.494000	0.90314	11.754000	0.95474	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.092	0.93212	875	0.30485	.;.;.;.	.	.	.	.	rs62621193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	570.98	39	chr14	58365301	.	G	A	570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.360e-01;DP=798;ExcessHet=0.0000;FS=1.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-7.500e-01;SOR=1.041	GT:AD:DP:GQ:PL	0/1:27,23:50:99:585,0,753	20	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.021	B	0.012	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.084	T	0.073	T	0.364	1.006	9.108	3.35	0.508	0.640	7.200	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	4406.61	113	chr14	64158707	.	T	C	4406.61	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-3.043e+00;DP=2681;ExcessHet=14.4320;FS=209.673;InbreedingCoeff=-0.5275;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.08;SOR=12.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,33:94:99:.:.:454,0,1202	6	0	14	1
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	1/1:0,9,0:9:27:387,27,0,387,27,387	0	19	0	0
chr14	73595534	73595534	-	A	exonic	ACOT4	.	frameshift insertion	ACOT4:NM_152331:exon3:c.1147dupA:p.I383Nfs*11,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349009587	1.371e-05	1.436e-05	1.635e-05	1.104e-05	0.0004	8.95e-06	7.28e-06	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0001	1.16e-05	3.944e-05	3.94e-05	3.855e-05	4.037e-05	0.0001	1.716e-05	1.13e-05	4.74e-05	3.054e-05	0.0001	0	6.547e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1490.94	44	chr14	73595534	.	T	TA	1490.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=926;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.96;ReadPosRankSum=0.574;SOR=0.346	GT:AD:DP:GQ:PL	0/1:36,47:83:99:1505,0,1097	20	0	1	0
chr14	73944787	73944787	T	C	exonic	FAM161B	.	nonsynonymous SNV	FAM161B:NM_152445:exon3:c.A473G:p.Q158R,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.001	B	0.001	B	0.006	N	0.994	N	1.59	L	1.59	T	-1.054	T	0.038	T	0.125	0.586	7.163	1.41	0.432	0.549	5.184	0.042	0.00441601301351	0.0032	0.00239617	0.0009	0.0097	8.876e-05	0	0	1.579e-05	0	0	0.0007438	115	154602	rs114761543	0.0003	0.0003	0.0004	0.0003	0.0111	0.0003	0.0003	0.0101	0.0098	0.0111	0.0003	0	0	0	0.0009	2.738e-06	0.0009	2.431e-05	0.0031	0.0031	0.0033	0.0030	0.0110	0.0029	0.0028	0.0102	0.0099	0.0110	0	0.0010	0	0	0	0	1.47e-05	0.0024	0	0.138	0.25873	T	0.248	0.23845	T	.	.	.	.	.	.	0.005506	0.32736	N	0.145433	0.993879	0.23631	N	.	.	.	1.59	0.28836	T	-0.49	0.15578	N	0.126	0.11912	-1.0541	0.13278	T	0.038	0.16548	T	10	0.00389269	0.00074	T	0.004416	0.10781	T	0.042	0.11227	.	.	0.0482279557977	0.04254	.	.	0.071680334375	0.08030	0.279273360968	0.07391	T	.	.	.	-0.610143	0.00126	T	-0.638816	0.09756	T	0.0082229762841218	0.00098	T	0.506949	0.16072	T	.	.	.	.	.	.	.	.	-1.614	0.02014	T	.	.	.	.	.	.	.	1.604513	0.20508	14.78	0.85028727591010811	0.15642	0.55830	0.29963	D	AEFDBCI	0.079791	0.16121	N	-0.667365206609092	0.16956	0.868448	-0.587900758026447	0.19807	1.064432	0.999929217620763	0.46280	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.1	1.41	0.21461	0.881000	0.27811	-0.193000	0.11018	-0.120000	0.14102	1.000000	0.71638	0.003000	0.18671	0.097000	0.18139	0.0:0.272:0.1608:0.5672	5.184	0.14500	410	0.82135	.	.	.	.	.	.	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	1081.98	35	chr14	73944787	.	T	C	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.894e+00;DP=795;ExcessHet=0.0000;FS=2.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.463;SOR=0.418	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1096,0,1062	20	0	1	0
chr14	73944869	73944869	G	A	exonic	FAM161B	.	nonsynonymous SNV	FAM161B:NM_152445:exon3:c.C391T:p.R131C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.981	D	0.050	N	0.963	D	1.59	L	1.46	T	-0.958	T	0.097	T	0.402	3.340	17.24	4.02	1.437	1.968	8.102	0.092	0.0157268311284	0.0030	0.00199681	0.0009	0.0089	9.69e-05	0	0	5.128e-05	0	0	0.0006727	104	154602	rs143308491	0.0003	0.0003	0.0004	0.0003	0.0090	0.0003	0.0003	0.0081	0.0078	0.0090	0.0003	0	0	0	0.0010	0.0001	0.0008	1.399e-05	0.0027	0.0027	0.0028	0.0026	0.0093	0.0025	0.0024	0.0085	0.0082	0.0093	0	0.0008	0	0.0002	0	0	0.0001	0.0024	0	0.023	0.48186	D	0.003	0.76473	D	.	.	.	.	.	.	0.050225	0.23090	N	0.393919	0.962644	0.38302	D	.	.	.	1.46	0.32238	T	-2.24	0.50175	N	0.469	0.50508	-0.9579	0.39571	T	0.097	0.36471	T	10	0.009785891	0.00220	T	0.015727	0.36624	T	0.092	0.26621	.	.	0.380730819819	0.37686	.	.	0.1285214489	0.14489	0.302573889494	0.10785	T	.	.	.	-0.438528	0.01319	T	-0.39473	0.33999	T	0.0297409505613066	0.01950	T	0.782822	0.41925	T	.	.	.	.	.	.	.	.	-4.865	0.35339	T	.	.	.	.	.	.	.	4.545409	0.71481	25.7	0.99915981551328958	0.98379	0.86388	0.45658	D	AEFDBCI	0.253825	0.37326	N	0.479516045303702	0.65894	4.880376	0.442522366356442	0.64238	4.674461	0.999992278330976	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.91	4.02	0.45968	2.794000	0.47545	4.870000	0.45558	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0808:0.0:0.7633:0.1558	8.102	0.30022	410	0.82135	.	.	.	.	.	.	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	524.98	33	chr14	73944869	.	G	A	524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=745;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=1.01;SOR=1.189	GT:AD:DP:GQ:PL	0/1:24,20:44:99:539,0,608	20	0	1	0
chr14	73950477	73950477	G	T	exonic	COQ6	.	nonsynonymous SNV	COQ6:NM_182476:exon1:c.G145T:p.A49S,	Coenzyme Q10 deficiency, primary, 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	211679	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.17	T	0.942	P	0.674	P	0.000	D	1.000	D	0.955	L	0.88	T	-1.084	T	0.051	T	0.287	5.279	33	5.01	2.615	5.939	18.570	0.123	.	0.0084	0.0071885	0.0029	0.0316	0.0015	0	0	6.953e-05	0	0	0.0020892	323	154602	rs61743884	0.0008	0.0008	0.0009	0.0007	0.0287	0.0008	0.0008	0.0272	0.0266	0.0287	0.0012	0	0	0	0.0015	7.836e-05	0.0016	4.695e-05	0.0075	0.0075	0.0080	0.0070	0.0261	0.0071	0.0070	0.0248	0.0243	0.0261	0	0.0025	0	0	0	0	0.0001	0.0047	0	0.151	0.32610	T	0.287	0.27679	T	0.942	0.52977	P	0.638	0.52030	P	0.000000	0.84330	D	0.050026	1	0.81001	D	1.765	0.45800	L	0.88	0.46028	T	-1.21	0.40468	N	0.618	0.65587	-1.0843	0.06535	T	0.051	0.21767	T	10	0.009027332	0.00204	T	.	.	.	0.123	0.34020	.	.	0.40032279838	0.39643	0.6771371330353263	0.67652	0.495590999531	0.48094	0.554670453072	0.46515	T	0.161637	0.50597	T	-0.451068	0.01113	T	-0.399754	0.33412	T	0.0615513612225333	0.07411	T	0.918208	0.70605	D	0.29572505	0.52518	0.44345033	0.67561	0.35614502	0.57541	0.41237625	0.65442	-6.428	0.49728	T	0.2405651125944539	0.32585	0.169	0.40730	B	.;.	.;.	4.720386	0.75923	26.4	0.99753920468575874	0.84460	0.87322	0.46826	D	ALL	0.832310	0.75071	D	0.483756489115404	0.66142	4.911925	0.539311901297496	0.70657	5.537527	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.01	5.01	0.66477	6.176000	0.71885	9.715000	0.81346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	18.570	0.91085	415	0.81806	.;.	.	.	.	.	.	Likely benign	0	0	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	1678.98	36	chr14	73950477	.	G	T	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.654e+00;DP=919;ExcessHet=0.0000;FS=2.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-3.500e-02;SOR=0.858	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1693,0,1895	20	0	1	0
chr14	74358236	74358236	A	G	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.A1453G:p.N485D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.047	U	1.000	N	0	N	0.98	T	-1.042	T	0.046	T	0.022	1.734	11.76	-0.76	-0.044	0.130	7.147	0.082	0.0033985678896	0.0006	0.000798722	0.0002	0.0025	8.67e-05	0	0	0	0	0	0.000194	30	154602	rs113674861	9.451e-05	9.508e-05	0.0001	6.885e-05	0.0030	8.143e-05	7.659e-05	0.0025	0.0023	0.0030	0.0002	0	0	0	0	0	0.0005	1.16e-05	0.0007	0.0007	0.0008	0.0006	0.0026	0.0006	0.0006	0.0022	0.0020	0.0026	0	0.0002	0	0	0	0	0	0.0014	0	0.098	0.30800	T	0.051	0.47828	T	0.0	0.02946	B	0.0	0.01387	B	0.046831	0.23401	U	0.382752	1	0.08975	N	0	0.06538	N	0.98	0.42122	T	-0.26	0.11185	N	0.074	0.04790	-1.0420	0.16711	T	0.046	0.19760	T	10	0.0047881603	0.00101	T	0.003399	0.07633	T	0.082	0.23913	.	.	0.110392049598	0.10638	0.18069673887857454	0.17988	0.49452677245	0.48011	0.341589361429	0.16676	T	0.018585	0.14954	T	-0.669168	0.00056	T	-0.738916	0.03936	T	0.00452570824809543	0.00048	T	0.291871	0.05342	T	0.18270437	0.39502	0.076556616	0.16967	0.18270437	0.39502	0.076556616	0.16966	-1.803	0.02518	T	.	.	0.075	0.05623	B	.	.	0.022987	0.04442	1.170	0.96586338991899512	0.30351	0.03806	0.09138	N	AEFDBCI	0.032001	0.03531	N	-1.11455551327828	0.06383	0.2936866	-1.1426947631258	0.06900	0.3337225	0.999950452449774	0.48110	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	4.29	-0.76	0.10485	0.044000	0.13876	3.166000	0.36590	0.691000	0.84096	0.004000	0.16614	0.990000	0.31317	0.005000	0.06747	0.4957:0.0:0.5043:0.0	7.147	0.24764	269	0.89438	.	.	.	.	.	.	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	1215.98	78	chr14	74358236	.	A	G	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.020e-01;DP=917;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-7.340e-01;SOR=0.729	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1230,0,1239	20	0	1	0
chr14	74809527	74809527	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.C4669G:p.P1557A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.11	B	0.037	B	0.004	N	1.000	N	0.345	N	.	.	-1.057	T	0.059	T	0.304	2.203	13.32	5.09	2.361	2.750	12.555	0.027	0.00520135931946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.08	0.41913	T	.	.	.	.	.	.	0.004008	0.34221	N	0.207799	1	0.08975	N	.	.	.	.	.	.	-1.77	0.41809	N	0.394	0.43514	-1.0572	0.12465	T	0.059	0.24649	T	9	0.12590471	0.23931	T	0.005201	0.13248	T	0.027	0.05988	0.195	0.10705	0.0675242888579	0.06100	0.5812892183569102	0.58057	0.531795332221	0.50662	0.438879489899	0.30424	T	0.022654	0.17431	T	-0.0836076	0.39125	T	-0.357873	0.38298	T	0.505337655544281	0.32825	D	0.845715	0.52486	T	0.24184598	0.47105	0.15684956	0.36704	0.24184598	0.47105	0.15684956	0.36703	-6.656	0.51478	T	.	.	0.079	0.14293	B	.;.	.;.	3.683178	0.52433	23.2	0.99086080182414982	0.52100	0.83926	0.43016	D	AEFBI	0.102716	0.20598	N	-0.402367563969886	0.25386	1.377673	-0.252498129824024	0.29686	1.665141	0.940101291003349	0.27417	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	2.790000	0.47512	7.168000	0.57719	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.924000	0.46004	0.0:0.7783:0.2217:0.0	12.555	0.55597	707	0.57054	.;.	.	.	.	.	.	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	1517.98	39	chr14	74809527	.	C	G	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.807;DP=903;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=2.37;SOR=0.631	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1532,0,1753	20	0	1	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|1:11,2,0:13:51:0|1:77027445_C_T:51,0,455,84,461,545:77027445	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|1:11,2,0:13:51:0|1:77027445_C_T:51,0,455,84,461,545:77027445	6	6	8	0
chr14	77253308	77253308	G	A	exonic	TMEM63C	.	nonsynonymous SNV	TMEM63C:NM_020431:exon23:c.G2152A:p.E718K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.003	B	0.001	B	0.814	N	1.000	N	1.39	L	2.33	T	-0.945	T	0.034	T	0.44	0.891	8.620	3.63	2.510	0.529	9.430	0.095	0.00279728162475	.	.	3.972e-05	0	0	0	0	3.516e-05	0	0.0002	2.59e-05	4	154602	rs773117217	1.576e-05	1.574e-05	1.363e-05	1.792e-05	0.0002	1.05e-05	8.77e-06	9.857e-05	7.89e-05	0	2.246e-05	0	0	0	0	7.203e-06	0	0.0002	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.644	0.04943	T	0.7	0.05727	T	0.003	0.11197	B	0.001	0.04355	B	0.813907	0.06844	N	1.101310	0.999716	0.20609	N	2.52	0.73523	M	2.33	0.16492	T	-0.02	0.07299	N	0.356	0.39760	-0.9451	0.41797	T	0.034	0.14464	T	10	0.075905055	0.11791	T	0.002797	0.05840	T	0.095	0.27398	0.35	0.34760	0.082315109003	0.07666	0.5047991917394284	0.50401	0.45656381799	0.45305	0.316335141659	0.12866	T	0.016244	0.13465	T	-0.337066	0.05594	T	-0.516442	0.20656	T	0.0407819567247152	0.03832	T	0.594241	0.21993	T	0.11599338	0.27365	0.09147283	0.21508	0.11599338	0.27365	0.09147283	0.21507	-6.86	0.53004	T	.	.	0.077	0.06205	B	.	.	1.257511	0.16549	12.61	0.65799001067388774	0.07875	0.45317	0.27512	N	AEFDBI	0.067477	0.13268	N	-0.593480760281434	0.19142	0.999501	-0.508464719802757	0.21923	1.188273	0.923606118345255	0.26749	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	3.63	0.40741	0.531000	0.22759	2.693000	0.34103	0.676000	0.76740	0.307000	0.25387	0.998000	0.33993	0.180000	0.21296	0.0:0.0:0.7164:0.2836	9.430	0.37765	698	0.58074	.	.	.	.	.	.	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	1026.98	34	chr14	77253308	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.980e-01;DP=770;ExcessHet=0.0000;FS=2.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.477;SOR=0.454	GT:AD:DP:GQ:PL	0/1:28,45:73:99:1041,0,584	20	0	1	0
chr14	77478638	77478638	G	A	exonic	ISM2	.	nonsynonymous SNV	ISM2:NM_199296:exon5:c.C1051T:p.R351W,	.	.	.	.	.	.	.	.	.	.	.	2199487	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.003	N	1.000	D	.	.	-0.17	T	0.026	D	0.471	T	0.559	3.062	16.22	5.14	2.396	5.182	18.597	0.441	0.0923128771401	.	.	2.474e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs747609625	1.984e-05	2.121e-05	2.314e-05	1.65e-05	0.0010	1.392e-05	1.203e-05	0.0005	0.0003	0	0.0002	0	2.519e-05	0	0.0010	8.094e-06	6.624e-05	2.319e-05	2.63e-05	2.627e-05	1.285e-05	4.039e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.002991	0.35606	N	0.226724	0.999999	0.81001	D	.	.	.	-0.17	0.65563	T	-6.69	0.92433	D	0.711	0.71410	0.026	0.82772	D	0.471	0.79674	T	9	0.864162	0.85650	D	0.092313	0.75868	D	0.441	0.74447	.	.	0.556342864924	0.55293	0.6927989029883779	0.69219	0.569464043504	0.53127	0.265485644341	0.05561	T	0.173969	0.52302	T	-0.0753495	0.40467	T	-0.170164	0.57427	T	0.977763235569	0.72000	D	0.987301	0.95681	D	0.5542655	0.70193	0.61164284	0.77406	0.5542655	0.70194	0.61164284	0.77407	-11.21	0.80797	D	.	.	0.169	0.37235	B	.	.	4.189471	0.63134	24.5	0.99879048333613774	0.95572	0.96769	0.70840	D	AEFDGBI	0.732733	0.67939	D	0.383302677303129	0.60518	4.241475	0.270878946493208	0.53846	3.551677	0.999999747840092	0.74766	0.580535	0.33130	0	0.624146	0.53433	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	5.278000	0.65401	2.161000	0.30982	0.672000	0.70159	0.999000	0.42656	0.167000	0.23311	0.033000	0.13494	0.0:0.0:1.0:0.0	18.597	0.91188	821	0.40814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	34	chr14	77478638	.	G	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.174;DP=820;ExcessHet=0.0000;FS=2.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.59;ReadPosRankSum=-5.280e-01;SOR=0.381	GT:AD:DP:GQ:PL	0/1:23,40:63:99:996,0,478	20	0	1	0
chr14	79280502	79280502	A	G	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001105250:exon1:c.A211G:p.I71V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811	P	0.377	B	.	.	1.000	D	1.04	L	1.44	T	-1.101	T	0.082	T	0.392	3.005	16.02	6.02	2.311	7.028	15.116	0.114	0.0123158850353	0.0008	0.000199681	0.0001	0.0007	0	0	0.0006	5.994e-05	0.0011	0	0.00011	17	154602	rs151275223	4.722e-05	4.72e-05	4.494e-05	4.952e-05	0.0008	3.795e-05	3.477e-05	0.0005	0.0005	0.0008	2.236e-05	0	0	0.0003	0.0002	2.428e-05	0	0	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0001	0	0	0.0004	0	0.0001	0	0	0.057	0.37966	T	0.063	0.45110	T	0.19	0.45403	B	0.133	0.43762	B	.	.	.	.	1	0.81001	D	1.95	0.52479	M	1.37	0.35775	T	-0.12	0.08809	N	0.337	0.45709	-1.1009	0.03984	T	0.082	0.32178	T	8	0.060200423	0.07357	T	0.012316	0.30787	T	0.114	0.32008	.	.	0.0934897674506	0.08844	.	.	.	.	.	.	.	0.129314	0.45751	T	-0.339297	0.05436	T	-0.345658	0.39702	T	0.141672000288963	0.16418	T	0.928907	0.73860	D	.	.	.	.	.	.	.	.	-2.032	0.03304	T	0.15640891155536654	0.18815	0.250	0.53808	B	.;.;.	.;.;.	2.924596	0.38838	20.8	0.99733583868663933	0.82975	0.93189	0.57558	D	AEFBCI	0.832042	0.75048	D	0.297337609141693	0.56014	3.765547	0.446263536278231	0.64478	4.703829	0.999999999712914	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.606884	0.38211	0	0.56751	0.32155	0	.	.	6.02	6.02	0.97559	7.034000	0.76239	9.313000	0.79976	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.116	0.72075	873	0.30802	.;.;.	.	.	.	.	.	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	0.02381	2232.98	33	chr14	79280502	.	A	G	2232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.641;DP=826;ExcessHet=0.0000;FS=1.494;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=-1.347e+00;SOR=0.883	GT:AD:DP:GQ:PL	0/1:46,86:132:99:2247,0,987	20	0	1	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	0/1:17,17:34:99:168,0,159	9	0	10	2
chr14	88840883	88840883	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366535:exon3:c.A254G:p.K85R	Bardet-Biedl syndrome 8, Autosomal recessive	.	0	1473	45	4	0	53	0.0176726	.	.	193761	not_specified|Bardet-Biedl_syndrome_8|not_provided|Bardet-Biedl_syndrome|Retinitis_pigmentosa	MedGen:CN169374|MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.73	T	0.865	P	0.824	P	0.000	D	1.000	D	0.29	N	-1.02	T	-0.968	T	0.106	T	0.372	1.455	10.81	5.09	1.903	4.963	14.859	0.138	.	0.0032	0.0071885	0.0059	0.0006	0.0030	0	0.0005	0.0040	0.0122	0.0240	0.005595	865	154602	rs150880478	0.0047	0.0047	0.0040	0.0053	0.0232	0.0046	0.0045	0.0223	0.0220	0.0005	0.0035	0.0008	0	0.0006	0.0177	0.0038	0.0050	0.0232	0.0035	0.0035	0.0034	0.0036	0.0263	0.0033	0.0032	0.0226	0.0212	0.0007	0	0.0042	0.0014	0	0.0006	0.0238	0.0042	0.0057	0.0263	0.574	0.08660	T	1.0	0.08808	T	0.003	0.12996	B	0.003	0.16862	B	0.000000	0.84330	D	0.048705	0.998721	0.81001	D	0.63	0.15941	N	-1.07	0.76948	T	-0.35	0.17210	N	0.13	0.24135	-0.9675	0.37713	T	0.106	0.38734	T	10	0.007837504	0.00178	T	.	.	.	0.349	0.67049	.	.	0.815756240397	0.81402	0.32855384335387705	0.32768	0.469398045918	0.46249	0.551525473595	0.46072	T	0.04129	0.25811	T	-0.327425	0.06309	T	-0.225514	0.52205	T	0.0430550078249923	0.04247	T	0.871513	0.70013	D	.	.	.	.	.	.	.	.	-3.003	0.10213	T	.	.	0.066	0.04002	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.496810	0.32224	18.98	0.98253644681263119	0.39594	0.87280	0.46771	D	AEFDGBI	0.523395	0.54702	D	0.121874717811164	0.47484	2.973543	0.232126589072069	0.51640	3.344667	0.999999556930636	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	4.991000	0.63616	9.335000	0.80166	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	14.859	0.69997	410	0.82135	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	7561.11	33	chr14	88840883	.	A	G	7561.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=1280;ExcessHet=0.1072;FS=1.769;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-8.740e-01;SOR=0.567	GT:AD:DP:GQ:PL	0/1:156,160:316:99:4219,0,3818	19	0	2	0
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	1/3:0,16,0,38,0,0,0:56:99:.:.:2282,1274,1192,2079,1255,2056,805,0,801,1027,2079,1255,2056,801,2056,2079,1255,2056,801,2056,2056,2079,1255,2056,801,2056,2056,2056	1	5	3	0
chr14	94382724	94382724	C	A	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon2:c.G514T:p.G172W	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	.	0	1513	8	0	1	9	0.00263678	.	.	464171	Alpha-1-antitrypsin_deficiency|not_provided|SERPINA1-related_disorder	MONDO:MONDO:0013282,MedGen:C0221757,OMIM:613490,Orphanet:60|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.973	D	0.819	P	0.023	N	1.000	N	2.225	M	-1.85	D	-0.110	T	0.660	D	0.437	1.695	11.63	-4.93	-0.358	-2.629	9.366	0.485	0.0587426484985	0.0007	0.000599042	0.0010	9.61e-05	8.637e-05	0	0.0002	0.0011	0.0022	0.0027	0.0009638	149	154602	rs112030253	0.0010	0.0010	0.0010	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0002	4.472e-05	0.0002	0	3.744e-05	0.0007	0.0011	0.0006	0.0021	0.0006	0.0006	0.0005	0.0007	0.0017	0.0005	0.0005	0.0008	0.0008	0.0002	0	0.0002	0	0	9.409e-05	0	0.0010	0	0.0017	0.027	0.55530	D	0.01	0.65728	D	0.875	0.57599	P	0.696	0.59018	P	0.022532	0.01574	N	2.336340	1	0.08975	N	2.395	0.69210	M	-1.85	0.84267	D	-2.2	0.49519	N	0.259	0.29659	-0.1098	0.79872	T	0.660	0.88174	D	10	0.029742062	0.01100	T	0.058743	0.67424	D	0.485	0.77399	.	.	0.977864749313	0.97762	0.4452613774014515	0.44444	0.215731861427	0.24104	0.219703227282	0.01293	T	0.466565	0.80125	T	-0.3308	0.06051	T	-0.253805	0.49441	T	0.0796956732036453	0.09947	T	0.272373	0.04609	T	0.33910653	0.56208	0.19167094	0.42639	0.3401979	0.56296	0.27308917	0.53224	-6.795	0.52522	T	0.35474475033001834	0.45167	0.177	0.45483	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.351875	0.07252	3.849	0.92586613311583188	0.22046	0.16582	0.19455	N	AEFDBHCI	0.842670	0.75976	D	-0.916680854695814	0.10451	0.4995213	-1.16609721185769	0.06483	0.3122437	0.999999447055887	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.79	-4.93	0.02839	-1.462000	0.02470	-15.955000	0.00333	-0.970000	0.01946	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4119:0.3859:0.2022	9.366	0.37384	912	0.21483	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|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	1	0	0	0	0.02381	1832.98	36	chr14	94382724	.	C	A	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=859;ExcessHet=0.0000;FS=4.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-1.293e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/1:84,71:155:99:1847,0,2033	20	0	1	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	0/1:46,44:90:99:.:.:559,0,629	0	0	21	0
chr14	96316628	96316628	T	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon21:c.A3266G:p.N1089S,	.	.	442	1079	1	0	0	1	0.000463177	.	.	3218581	ATG2B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.001	U	1.000	N	1.1	L	1.02	T	-1.136	T	0.033	T	0.029	1.825	12.06	-10.1	-2.049	-0.345	16.360	0.094	.	8.4e-05	0.00239617	0.0006	0.0001	0	0.0070	0	6.029e-05	0.0011	0.0007	0.0006468	100	154602	rs79425071	0.0007	0.0007	0.0006	0.0007	0.0204	0.0006	0.0006	0.0193	0.0188	0	0	0.0005	0.0204	0	0.0005	4.498e-05	0.0003	0.0008	0.0005	0.0005	0.0004	0.0005	0.0100	0.0004	0.0003	0.0079	0.0071	2.406e-05	0	0	0.0009	0.0100	0	0	7.35e-05	0	0.0019	0.163	0.23450	T	0.091	0.40110	T	0.0	0.02946	B	0.0	0.01387	B	0.000541	0.43581	U	0.146914	0.99999	0.08975	N	0	0.06538	N	1.02	0.40749	T	-0.66	0.19085	N	0.087	0.06454	-1.1364	0.01499	T	0.033	0.14290	T	10	0.0029176474	0.00047	T	.	.	.	0.094	0.27141	.	.	0.0954503805726	0.09146	0.09776781721915277	0.09707	0.131963620614	0.14876	0.285580992699	0.08282	T	0.003199	0.02606	T	-0.68301	0.00046	T	-0.750148	0.03480	T	0.0081635601971739	0.00097	T	0.764624	0.39166	T	0.02237829	0.00897	0.04430552	0.05711	0.02237829	0.00897	0.04430552	0.05711	-2.784	0.08037	T	.	.	0.050	0.00148	B	.	.	-0.319805	0.02531	0.303	0.69675964802500656	0.09049	0.06198	0.12183	N	AEFGBI	0.046483	0.07725	N	-1.49536575187024	0.01882	0.08258719	-1.57871306307474	0.01786	0.08127744	0.999999162950471	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.55	-10.1	0.00330	-0.354000	0.07731	-5.216000	0.01803	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.0:0.6287:0.0895:0.2818	16.360	0.83090	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	1135.98	34	chr14	96316628	.	T	C	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.091;DP=786;ExcessHet=0.0000;FS=4.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.135;SOR=0.948	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1150,0,1350	20	0	1	0
chr14	104179635	104179635	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon15:c.G5494A:p.E1832K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.955	D	.	.	1.000	D	2.005	M	-1.45	T	0.397	D	0.636	D	0.488	4.819	27.3	4.56	2.087	7.397	17.337	0.463	0.656236721077	.	.	0.0002	0.0007	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs756446886	6.337e-05	6.225e-05	5.96e-05	6.725e-05	0.0002	5.222e-05	4.87e-05	7.345e-05	5.14e-05	0	0	4.042e-05	0.0002	0	0.0002	6.889e-05	3.479e-05	5.123e-05	5.915e-05	5.91e-05	3.855e-05	8.073e-05	0.0002	3.078e-05	2.211e-05	5.285e-05	2.835e-05	4.826e-05	0	0.0002	0	0	0	0	5.881e-05	0	0	0.003	0.68238	D	0.013	0.63109	D	1.0	0.90584	D	0.955	0.69585	D	.	.	.	.	0.999999	0.58761	D	1.995	0.54099	M	-1.45	0.80899	T	-3.14	0.64019	D	0.618	0.63374	0.397	0.89049	D	0.636	0.87254	D	9	0.45253634	0.58788	T	0.656237	0.97102	D	0.463	0.75956	.	.	0.893892692631	0.89284	0.22985109683397584	0.22900	0.470077644791	0.46295	0.732959091663	0.71938	T	0.168398	0.51539	T	-0.107221	0.35228	T	-0.0698251	0.65639	T	0.306647865732913	0.25276	T	0.943106	0.78551	D	0.3442896	0.56618	0.35617682	0.61132	0.3442896	0.56618	0.35617682	0.61132	-3.592	0.17742	T	.	.	0.248	0.48303	B	.;.	.;.	4.694014	0.75243	26.3	0.99921971644385443	0.98787	0.95393	0.64544	D	AEFDBI	0.873736	0.79625	D	0.607030000606913	0.73620	5.995773	0.536945669727684	0.70497	5.513572	0.999999999965518	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.56	4.56	0.55644	9.740000	0.98054	11.532000	0.93092	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.099000	0.18236	0.0:0.0:1.0:0.0	17.337	0.87172	565	0.70868	.;.	.	.	.	.	.	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	384.98	33	chr14	104179635	.	G	A	384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.55;ReadPosRankSum=0.020;SOR=0.793	GT:AD:DP:GQ:PL	0/1:35,16:51:99:399,0,934	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	2/2:0,0,8:8:27:365,365,365,27,27,0	11	3	4	0
chr14	104945711	104945711	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9440G:p.D3147G	.	.	437	1064	20	1	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.998	D	.	.	1.000	N	3.325	M	4.56	T	-1.104	T	0.036	T	0.339	0.800	8.209	2.95	1.358	0.673	9.203	0.069	0.00160606406043	.	0.000599042	0.0006	0	0.0009	0	0	0.0004	0.0011	0.0018	0.0005045	78	154602	rs200045846	0.0003	0.0004	0.0002	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	2.988e-05	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0016	0.0002	0.0003	0.0003	0.0002	0.0012	0.0002	0.0001	0.0005	0.0003	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0012	0.022	0.48642	D	0.061	0.45530	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.795	0.81503	M	4.56	0.01933	T	-3.73	0.70920	D	0.205	0.22742	-1.1040	0.03640	T	0.036	0.15553	T	9	0.017894953	0.00385	T	0.001606	0.02574	T	0.069	0.20116	.	.	0.107399877778	0.10242	0.019300944833428736	0.01884	.	.	0.214619427919	0.01022	T	0.111464	0.42697	T	-0.454045	0.01069	T	-0.432244	0.29680	T	0.155301952476957	0.17518	T	0.668433	0.27736	T	0.11593374	0.27352	0.11815223	0.28522	0.11593374	0.27352	0.11815223	0.28522	-8.936	0.67284	D	.	.	0.179	0.39047	B	.	.	2.686068	0.35051	19.79	0.98138199759592337	0.38580	0.15688	0.19033	N	AEFBI	.	.	.	-0.0467745553855719	0.39747	2.348942	-0.350656538561117	0.26488	1.463424	2.72927506228462E-4	0.06300	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	2.95	2.95	0.33285	4.109000	0.57562	-2.102000	0.04210	0.603000	0.45986	0.248000	0.24829	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.1821:0.8179	9.203	0.36433	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1045.98	76	chr14	104945711	.	T	C	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.520e+00;DP=3426;ExcessHet=0.0000;FS=6.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.48;MQRankSum=0.662;QD=12.02;ReadPosRankSum=1.75;SOR=0.255	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1060,0,1240	20	0	1	0
chr14	104946203	104946204	AC	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8947_8948del:p.V2983Qfs*80	.	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0007	3.84e-05	1	26028	rs757107721	0.0003	0.0004	0.0002	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	3.003e-05	0.0005	0	0	0	0.0059	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0	0	0.0005	0	0	9.656e-05	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2461.94	36	chr14	104946202	.	GAC	G	2461.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=4001;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.92;MQRankSum=-1.199e+00;QD=15.58;ReadPosRankSum=0.00;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,78:158:99:0|1:104946202_GAC_G:2476,0,2251:104946202	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	1|2:0,80,78:158:99:1|0:104946202_GAC_G:6870,2875,2476,2683,0,2251:104946202	1	7	12	0
chr14	104946206	104946206	-	GC	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8944_8945insGC:p.D2982Gfs*10	.	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0008	3.84e-05	1	26028	rs745545429	0.0003	0.0004	0.0002	0.0004	0.0060	0.0003	0.0003	0.0044	0.0038	3.011e-05	0.0005	0	0	0	0.0060	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0006	0	0	9.779e-05	0	0.0004	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2461.94	180	chr14	104946206	.	T	TGC	2461.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=4874;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.27;MQRankSum=-1.199e+00;QD=15.58;ReadPosRankSum=0.390;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,78:158:99:0|1:104946202_GAC_G:2476,0,2251:104946202	20	0	1	0
chr14	104994748	104994748	G	A	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_174891:exon5:c.G967A:p.D323N,	.	.	411	1096	14	1	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.606	P	0.031	B	0.937	N	1.000	N	0.365	N	.	.	-1.029	T	0.030	T	0.068	0.805	8.234	-0.564	-0.422	-0.072	7.000	0.051	0.00317260751494	8.3e-05	0.000599042	0.0005	0	0.0006	0	0	0.0004	0	0.0016	0.0004722	73	154602	rs200272722	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0040	3.085e-05	0.0005	0	0	0	0.0062	0.0002	0.0007	0.0018	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0004	0	0	9.416e-05	0	0.0003	0.0009	0.0025	0.507	0.08762	T	0.412	0.14456	T	0.606	0.39465	P	0.031	0.21939	B	0.936976	0.08380	N	0.959023	1	0.08975	N	.	.	.	.	.	.	-1.65	0.47008	N	0.059	0.04188	-1.0289	0.20811	T	0.030	0.12804	T	9	0.006056577	0.00136	T	0.003173	0.06936	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.24883442652854282	0.24797	0.117908866914	0.13276	.	.	.	0.072555	0.34482	T	-0.591096	0.00165	T	-0.646472	0.09203	T	0.014728854302732	0.00307	T	0.536546	0.19140	T	0.059315845	0.12040	0.034095634	0.02415	0.059315845	0.12039	0.034095634	0.02415	-3.299	0.13724	T	.	.	0.145	0.31980	B	.;.;.	.;.;.	0.204959	0.05893	2.333	0.85221806567649572	0.15760	0.05460	0.11339	N	AEFBCI	0.025915	0.01855	N	-0.998479758405893	0.08637	0.4056948	-1.09236291925277	0.07850	0.3835069	0.999396745369358	0.39470	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.67	-0.564	0.11185	-0.027000	0.12319	0.989000	0.23179	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4312:0.0:0.5688:0.0	7.000	0.23982	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	1508.98	42	chr14	104994748	.	G	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.857;DP=919;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.719;SOR=0.743	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1523,0,1076	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	0/1:43,8,0:51:99:.:.:193,0,1705,323,1764,2086	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|1:41,8,0:49:99:0|1:20534635_TCC_*:251,0,1700,476,1815,2724:20534635	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|2:41,0,8:49:99:0|1:20534635_TCC_*:251,476,2724,0,1815,1700:20534635	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|1:41,8,0:49:99:0|1:20534635_TCC_*:251,0,1700,476,1815,2724:20534635	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|1:41,8,0:49:99:0|1:20534635_TCC_*:251,0,1700,476,1815,2724:20534635	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|2:41,0,8:49:99:0|1:20534635_TCC_*:251,476,2724,0,1815,1700:20534635	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|2:41,0,8:49:99:0|1:20534635_TCC_*:251,476,2724,0,1815,1700:20534635	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|1:41,8,0:49:99:0|1:20534635_TCC_*:251,0,1700,476,1815,2724:20534635	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|1:41,8,0:49:99:0|1:20534635_TCC_*:251,0,1700,476,1815,2724:20534635	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|1:41,8,0:49:99:0|1:20534635_TCC_*:251,0,1700,476,1815,2724:20534635	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|2:41,0,8:49:99:0|1:20534635_TCC_*:251,476,2724,0,1815,1700:20534635	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|1:41,8,0:49:99:0|1:20534635_TCC_*:251,0,1700,476,1815,2724:20534635	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|2:41,0,8:49:99:0|1:20534635_TCC_*:251,476,2724,0,1815,1700:20534635	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|2:41,0,8:49:99:0|1:20534635_TCC_*:251,476,2724,0,1815,1700:20534635	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|2:41,0,8:49:99:0|1:20534635_TCC_*:251,476,2724,0,1815,1700:20534635	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|1:41,8,0:49:99:0|1:20534635_TCC_*:251,0,1700,476,1815,2724:20534635	5	0	10	2
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	1/1:0,50:50:99:1651,150,0	1	16	3	1
chr15	22607629	22607629	C	T	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.G1810A:p.V604M,	.	.	448	1047	27	0	0	27	0.0127298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	.	.	.	.	2.15	T	-1.008	T	0.049	T	0.216	-0.033	3.846	0.829	-0.212	1.658	3.264	0.061	0.000205736360255	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201794505	0.0074	0.0094	0.0074	0.0074	0.0123	0.0073	0.0072	0.0104	0.0102	0.0082	0.0109	0.0099	0.0047	0.0024	0.0123	0.0071	0.0079	0.0110	0.0082	0.0100	0.0085	0.0079	0.0132	0.0078	0.0077	0.0106	0.0096	0.0096	0.0266	0.0081	0.0099	0.0064	0.0019	0.0240	0.0078	0.0079	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	699.98	38	chr15	22607629	.	C	T	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=769;ExcessHet=0.0000;FS=1.096;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=46.60;MQRankSum=-1.250e+00;QD=13.73;ReadPosRankSum=0.457;SOR=0.458	GT:AD:DP:GQ:PL	0/1:22,29:51:99:714,0,515	20	0	1	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5455	544.05	2	chr15	22768275	.	C	G,*	544.05	.	AC=8,4;AF=0.364,0.182;AN=22;BaseQRankSum=1.14;DP=74;ExcessHet=0.1935;FS=1.619;InbreedingCoeff=0.2348;MLEAC=12,6;MLEAF=0.545,0.273;MQ=53.08;MQRankSum=-9.670e-01;QD=15.11;ReadPosRankSum=-9.900e-02;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2,0:3:31:0|1:22768275_C_G:81,0,31,84,37,121:22768275	3	3	2	10
chr15	22768297	22768297	A	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	115.02	2	chr15	22768297	.	A	C,*	115.02	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=0.00;DP=69;ExcessHet=0.0840;FS=0.000;InbreedingCoeff=0.1846;MLEAC=2,5;MLEAF=0.067,0.167;MQ=52.92;MQRankSum=-5.240e-01;QD=6.77;ReadPosRankSum=-1.282e+00;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,4,0:5:26:0|1:22768275_C_G:125,0,26,128,37,164:22768275	11	0	1	6
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	0|1:1,4,0,0:5:26:0|1:22768275_C_G:125,0,26,128,37,164,128,37,164,164:22768275	11	0	1	4
chr15	22769367	22769367	T	C	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327727541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.0066	0.0062	0.0062	0.0150	0.0057	0.0056	0.0135	0.0130	0.0150	0.0021	0.0058	0.0068	0.0008	0.0008	0	0.0028	0.0050	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	2/2:0,0,1:1:4:48,48,48,4,4,0	13	0	2	3
chr15	22769367	22769367	T	0	exonic	GOLGA6L7	.	.	.	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	2/2:0,0,1:1:4:48,48,48,4,4,0	13	0	2	3
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	0/2:72,0,11:83:99:.:.:247,464,3417,0,2954,2919	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	0/1:72,11,0:83:99:.:.:247,0,2919,464,2954,3417	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	1/2:0,67,60:127:99:.:.:4718,2051,2409,2756,0,2569	0	0	2	0
chr15	23647358	23647358	T	C	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.A385G:p.M129V,	Schaaf-Yang syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	429621	not_specified|Inborn_genetic_diseases|not_provided|Prader-Willi_syndrome	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0008	0.0008	0	0	0	0.0011	0.0063	0.0005	0.0002975	46	154602	rs188762916	0.0014	0.0013	0.0015	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	0.0003	0.0015	0.0003	2.798e-05	0.0005	0.0012	0.0016	0.0012	0.0003	0.0011	0.0011	0.0012	0.0010	0.0025	0.0010	0.0009	0.0019	0.0016	0.0002	0	0.0025	0	0	0.0005	0	0.0016	0.0019	0.0004	.	.	.	0.313	0.19539	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.56317	.	.	.	.	.	.	.	0.023264885	0.00604	T	.	.	.	.	.	.	.	0.0675242888579	0.06100	0.1989686982458704	0.19813	.	.	0.797494769096	0.81582	T	0.163854	0.50908	T	-0.406012	0.02113	T	-0.386063	0.35012	T	.	.	.	0.513449	0.16474	T	0.2542526	0.48452	0.5673049	0.74952	0.38520002	0.59690	0.48625168	0.70266	-6.405	0.49548	T	.	.	0.200	0.42375	B	.;.	.;.	2.338661	0.29965	18.29	0.36637019273675059	0.02368	0.05186	0.11007	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.995270308025664	0.34040	0.110573	0.02883	0	0.063388	0.01293	0	0.119651	0.03204	0	0.079188	0.02158	0	0.0678676	0.16082	3.76	-2.74	0.05582	1.004000	0.29423	1.836000	0.29152	0.654000	0.53741	0.029000	0.20367	1.000000	0.68203	0.997000	0.79791	0.1499:0.3823:0.0:0.4677	4.693	0.12170	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	1	0	0	0	0	0	0	0.02381	1124.98	34	chr15	23647358	.	T	C	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.260e-01;DP=835;ExcessHet=0.0000;FS=3.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.083;SOR=1.101	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1139,0,1244	20	0	1	0
chr15	28842324	28842324	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1780A:p.A594T,	.	.	734	778	8	2	0	12	0.00765306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00499201	.	.	.	.	.	.	.	.	0.0068388	178	26028	rs138481228	0.0095	0.0079	0.0095	0.0095	0.0102	0.0094	0.0093	0.0100	0.0100	0.0013	0.0031	0.0065	0	0.0078	0.0096	0.0102	0.0085	0.0083	0.0059	0.0059	0.0060	0.0058	0.0092	0.0056	0.0054	0.0086	0.0084	0.0013	0	0.0046	0.0081	0	0.0062	0.0102	0.0092	0.0047	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006117761	0.00138	T	.	.	.	.	.	.	.	.	.	0.004366120247626335	0.00410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306369	0.05889	T	0.026401768	0.01693	0.1082772	0.26080	0.026401768	0.01693	0.1082772	0.26079	-3.038	0.10596	T	.	.	0.089	0.12228	B	.	.	-0.198033	0.03100	0.490	0.77294282673265802	0.11816	0.00108	0.00689	N	AEFDI	.	.	.	.	.	.	.	.	.	2.59472011197163E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0476782	0.07194	1.07	-2.14	0.06725	-0.591000	0.05848	-5.039000	0.01875	0.111000	0.17629	0.009000	0.18154	0.000000	0.08366	0.052000	0.15357	0.0:0.6008:0.3992:0.0	6.425	0.20967	946	0.12043	.	GOLGA6L7P	Artery_Aorta	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	119.16	7	chr15	28842324	.	C	T	119.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.30;DP=211;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0522;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.27;ReadPosRankSum=-7.920e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:5,2:7:28:28,0,121	19	0	2	0
chr15	30089817	30089817	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.G992A:p.R331H,	.	.	466	1049	7	0	0	7	0.00332542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	.	.	.	.	.	.	1.000	N	.	.	1.96	T	-0.999	T	0.035	T	0.155	-1.218	0.064	-0.881	-0.324	2.673	3.086	0.065	0.000900771032752	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488768645	0.0001	0.0006	9.951e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0002	0.0002	7.818e-05	2.532e-05	0.0004	0.0002	6.575e-05	0.0002	0.0010	0.0005	0.0029	0.0004	0.0005	0.0009	0.0004	0.0004	0.0005	0.0004	0.0008	0	0.0003	0	0.0002	0.0005	0	0.0004	0.0012	0.0009	0.196	0.20683	T	0.607	0.07766	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.96	0.22270	T	-0.41	0.14000	N	0.036	0.01068	-0.9994	0.30087	T	0.035	0.15117	T	6	0.079330474	0.12748	T	9.01E-4	0.00844	T	.	.	.	.	0.0611884634855	0.05136	0.08154418905999827	0.08089	1.58871443814	0.88490	.	.	.	0.001544	0.00986	T	-0.310092	0.07740	T	-0.613364	0.11713	T	0.0723647512045235	0.08979	T	.	.	.	0.018165141	0.00338	0.026209326	0.00698	0.018165141	0.00337	0.026209326	0.00698	-5.732	0.43977	T	.	.	0.065	0.01960	B	.	.	1.046405	0.14271	10.85	0.52266347466046803	0.04716	0.06355	0.12354	N	AEFI	0.059543	0.11253	N	-0.810811843792159	0.13033	0.6392938	-0.978440891905038	0.10270	0.5161716	1.86297986819133E-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	-0.881	0.10070	3.050000	0.49568	-0.274000	0.10324	-0.727000	0.03751	1.000000	0.71638	0.000000	0.08366	0.000000	0.00833	0.3332:0.2282:0.4386:0.0	3.086	0.05900	483	0.77230	.	.	.	.	.	.	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	0.1	174.61	39	chr15	30089817	.	G	A	174.61	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.10;DP=737;ExcessHet=0.0082;FS=15.051;InbreedingCoeff=0.3664;MLEAC=4;MLEAF=0.100;MQ=36.04;MQRankSum=-9.540e-01;QD=3.01;ReadPosRankSum=-5.390e-01;SOR=2.820	GT:AD:DP:GQ:PL	1/1:0,5:5:15:134,15,0	17	1	2	1
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	1/1:0,95,0:97:99:3815,292,0,3526,291,3359	0	10	0	0
chr15	40206324	40206324	A	G	exonic	BUB1B	.	nonsynonymous SNV	BUB1B:NM_001211:exon15:c.A1875G:p.I625M,	Colorectal cancer, somatic;Mosaic variegated aneuploidy syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	464183	Mosaic_variegated_aneuploidy_syndrome_1	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300,Orphanet:1052	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.988	D	0.826	P	0.000	D	1.000	N	1.79	L	2.38	T	-1.075	T	0.058	T	0.201	3.153	16.54	1.87	0.350	1.059	2.594	0.096	0.00692025849505	.	0.000199681	0.0002	0	0	0.0022	0	0	0	0	0.0001294	20	154602	rs541881263	3.557e-05	3.557e-05	2.859e-05	4.263e-05	0.0011	2.762e-05	2.501e-05	0.0008	0.0008	0	0	0	0.0011	0	0	1.799e-06	3.312e-05	4.637e-05	3.283e-05	3.281e-05	6.424e-05	0	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0	0	0.008	0.61437	D	0.056	0.47336	T	0.98	0.62325	D	0.674	0.59373	P	0.000358	0.45440	D	0.097486	0.999997	0.08975	N	2.175	0.60977	M	2.38	0.15843	T	-0.45	0.14782	N	0.128	0.15187	-1.0754	0.08266	T	0.058	0.24391	T	10	0.013186306	0.00281	T	0.00692	0.18317	T	0.096	0.27654	0.529	0.63560	0.789892508457	0.78794	0.3535328335751481	0.35267	0.238024109319	0.26353	0.508973896503	0.40078	T	0.207311	0.56692	T	-0.540974	0.00331	T	-0.563078	0.16089	T	0.118855988507333	0.14318	T	0.59564	0.22108	T	0.045874964	0.07584	0.06166477	0.11944	0.045874964	0.07584	0.06166477	0.11943	-4.044	0.26592	T	.	.	0.070	0.04119	B	.;.	.;.	2.464181	0.31747	18.84	0.99517764276461707	0.69040	0.21102	0.21282	N	AEFDBI	0.035675	0.04632	N	-0.102597681259485	0.37280	2.166613	-0.175648982003127	0.32434	1.845244	0.61341096060228	0.21823	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	1.87	0.24559	1.119000	0.30872	0.180000	0.15620	-0.348000	0.05616	0.635000	0.28042	0.000000	0.08366	0.979000	0.57723	0.2895:0.4506:0.115:0.1449	2.594	0.04555	759	0.50631	.;.	.	.	.	.	.	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	2243.98	33	chr15	40206324	.	A	G	2243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=859;ExcessHet=0.0000;FS=2.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.394;SOR=0.532	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2258,0,2053	20	0	1	0
chr15	40856300	40856300	G	A	exonic	SPINT1	.	nonsynonymous SNV	SPINT1:NM_001032367:exon9:c.G1313A:p.R438Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.839	P	0.237	B	0.002	N	1.000	N	2.2	M	-3.68	D	0.526	D	0.758	D	0.729	3.059	16.21	5.38	2.692	3.823	16.407	0.608	0.11408444042	7.7e-05	0.000399361	0.0002	0	0	0.0016	0	7.494e-05	0	6.056e-05	0.0001488	23	154602	rs200944233	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0013	0.0012	0	0	0	0.0016	1.872e-05	0	0.0001	0.0003	6.956e-05	0.0001	0.0001	8.996e-05	0.0001	0.0031	7.574e-05	6.28e-05	0.0019	0.0016	0	0	6.539e-05	0	0.0031	0	0	1.47e-05	0	0	0.084	0.35349	T	0.294	0.20745	T	0.598	0.42074	P	0.174	0.35961	B	0.001554	0.38671	N	0.296958	1	0.81001	D	2.77	0.80896	M	-3.68	0.97292	D	-0.14	0.10656	N	0.382	0.42345	0.526	0.90906	D	0.758	0.91753	D	10	0.030551314	0.01183	T	0.114084	0.79282	D	0.608	0.84613	.	.	0.897704188702	0.89669	0.4328157636921333	0.43198	0.289894027274	0.31394	0.386019527912	0.23107	T	0.086461	0.37729	T	0.00457938	0.52285	T	0.233794	0.84854	D	0.0707039729706138	0.08749	T	0.877412	0.59112	D	0.115876086	0.27339	0.095650144	0.22695	0.115876086	0.27338	0.095650144	0.22694	-5.456	0.50425	T	.	.	0.097	0.15832	B	.;.;.;.	.;.;.;.	3.289230	0.45099	22.1	0.99828648867927161	0.91026	0.95505	0.64988	D	AEFDGBI	0.694809	0.65368	D	0.24652095923294	0.53466	3.515413	0.312930338511392	0.56300	3.793058	0.99999965391553	0.74766	0.67177	0.52595	0	0.615513	0.52658	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.38	5.38	0.77279	5.005000	0.63724	3.991000	0.40989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	16.407	0.83509	182	0.92924	.;.;.;.	.	.	.	.	.	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	1213.98	38	chr15	40856300	.	G	A	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=0.861;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,33:84:99:0|1:40856300_G_A:1228,0,1943:40856300	20	0	1	0
chr15	41818074	41818074	C	T	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_001265611:exon17:c.C1970T:p.T657I	Nephronophthisis 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	739607	MAPKBP1-related_disorder|Nephronophthisis_20|not_provided	.|MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.67	L	1.56	T	-0.656	T	0.243	T	0.793	4.785	26.9	5.51	2.574	5.886	19.409	0.361	0.0575422703992	0.0012	0.000399361	0.0003	0.0037	8.639e-05	0	0	0	0	0	0.0002652	41	154602	rs139165608	0.0001	0.0001	0.0002	0.0001	0.0051	0.0001	0.0001	0.0045	0.0042	0.0051	0.0003	0	0	0	0.0002	1.799e-06	0.0003	2.319e-05	0.0011	0.0011	0.0010	0.0012	0.0037	0.0010	0.0009	0.0032	0.0030	0.0037	0	0.0009	0	0	0	0	0	0.0009	0	0.001	0.78490	D	0.004	0.74150	D	0.994	0.73220	D	0.963	0.70837	D	0.000000	0.84330	D	0.045170	0.999999	0.58761	D	2.3	0.65703	M	1.56	0.40749	T	-4.08	0.74742	D	0.599	0.62188	-0.6565	0.62430	T	0.243	0.61189	T	10	0.017060488	0.00362	T	0.057542	0.67003	D	0.361	0.68141	.	.	0.327401308167	0.32341	0.7842984482825909	0.78380	1.14559421498	0.79068	0.847851872444	0.89290	D	0.186215	0.53944	T	-0.207019	0.19802	T	-0.070016	0.65625	T	0.0494991257882125	0.05412	T	0.825317	0.48765	T	0.5288976	0.68767	0.4658815	0.69006	0.5288976	0.68768	0.4658815	0.69006	-9.71	0.73021	D	.	.	0.817	0.81728	P	.;.;.	.;.;.	4.028699	0.59562	24.1	0.99890910196642346	0.96513	0.99475	0.96487	D	AEFGBI	0.765778	0.70215	D	0.672221916768434	0.77813	6.747492	0.662326128966952	0.79531	7.102277	0.999999999998825	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	6.004000	0.70371	7.699000	0.66186	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:1.0:0.0:0.0	19.409	0.94653	216	0.91608	.;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	0	0	0	0	0.02381	1389.98	35	chr15	41818074	.	C	T	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=848;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=-1.309e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1404,0,1244	20	0	1	0
chr15	41876136	41876136	C	G	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon21:c.G4100C:p.R1367T,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.468	P	0.158	B	0.582	N	1.000	N	1.245	L	1.39	T	-1.056	T	0.022	T	0.144	1.497	10.96	-0.663	-0.028	0.209	2.736	0.058	.	0.0002	0.00459265	0.0027	0	0.0002	0.0344	0.0014	0.0003	0.0011	0.0001	0.0023544	364	154602	rs2290558	0.0009	0.0009	0.0009	0.0009	0.0242	0.0009	0.0008	0.0229	0.0224	0	0.0002	0.0010	0.0242	0.0016	0	0.0001	0.0012	6.958e-05	0.0013	0.0013	0.0011	0.0016	0.0276	0.0012	0.0011	0.0239	0.0225	0	0	0.0004	0.0006	0.0276	0.0023	0	0.0003	0.0009	0	0.531	0.07002	T	0.027	0.55341	D	0.468	0.36503	P	0.158	0.34617	B	0.581528	0.05538	N	1.240090	1	0.08975	N	1.39	0.34934	L	1.39	0.33842	T	-1.2	0.30555	N	0.211	0.23506	-1.0564	0.12672	T	0.022	0.09193	T	10	0.004202634	0.00084	T	.	.	.	0.058	0.16647	.	.	0.477451190609	0.47374	0.07632805171012425	0.07568	.	.	0.283500254154	0.07986	T	0.005084	0.04516	T	-0.598671	0.00148	T	-0.604157	0.12463	T	0.0101630387943461	0.00137	T	0.530647	0.17608	T	0.09197323	0.21566	0.051773738	0.08400	0.09197323	0.21566	0.051773738	0.08399	-4.093	0.25187	T	.	.	0.102	0.18206	B	.	.	0.727063	0.10963	7.626	0.61798167087445977	0.06800	0.04545	0.10182	N	AEFDGBI	0.092980	0.18818	N	-0.817586577442208	0.12861	0.629687	-0.91734122471519	0.11685	0.5968222	0.668459692553681	0.22348	0.646311	0.45356	0	0.541168	0.11318	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.24	-0.663	0.10837	0.569000	0.23342	0.516000	0.19122	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.004000	0.06068	0.1091:0.3911:0.1179:0.3818	2.736	0.04916	198	0.92335	.	.	.	.	.	.	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	582.98	40	chr15	41876136	.	C	G	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.068;SOR=0.627	GT:AD:DP:GQ:PL	0/1:18,22:40:99:597,0,393	20	0	1	0
chr15	42675927	42675927	A	T	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon20:c.A1826T:p.D609V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	0.55	N	-0.28	T	-0.761	T	0.153	T	0.691	2.724	15.07	4.38	2.333	3.177	7.732	0.347	0.129688247253	.	0.000798722	5.694e-05	0	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs187004039	4.766e-05	4.515e-05	3.421e-05	6.146e-05	0.0013	3.843e-05	3.506e-05	0.0010	0.0009	0	0	0	0.0013	0	0	9.269e-07	0.0002	0.0001	0.0001	0.0001	7.726e-05	0.0002	0.0033	8.186e-05	6.739e-05	0.0021	0.0017	0	0	0	0	0.0033	0	0	0	0	0.0004	0.0	0.91255	D	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	0.999757	0.48800	D	2.25	0.63811	M	-0.28	0.67543	T	-3.12	0.77143	D	0.383	0.42443	-0.7613	0.57334	T	0.153	0.48222	T	7	0.022488058	0.00563	T	0.129688	0.81176	D	0.347	0.66863	.	.	0.628044946261	0.62500	0.3973583382635932	0.39650	.	.	0.367960005999	0.20539	T	0.138414	0.47188	T	-0.194735	0.21566	T	-0.0583573	0.66448	T	0.17490220692937	0.18907	T	0.781422	0.41649	T	0.25254762	0.48271	0.317995	0.57771	0.25254762	0.48270	0.317995	0.57770	-2.664	0.07006	T	.	.	0.166	0.39425	B	.;.	.;.	3.981842	0.58545	24.0	0.99232243073980431	0.56246	0.95345	0.64359	D	AEFGBI	0.298367	0.40770	N	0.136072156031681	0.48151	3.031271	0.217142592808118	0.50797	3.268146	0.99160779382956	0.32545	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.55	4.38	0.52019	3.205000	0.50792	5.279000	0.48175	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	0.7806:0.1417:0.0777:0.0	7.732	0.27957	94	0.96106	.;.	.	.	.	.	.	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	1298.98	37	chr15	42675927	.	A	T	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-02;DP=824;ExcessHet=0.0000;FS=9.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-5.360e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1313,0,1296	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	0/1:180,180,0:360:99:.:.:4035,0,4867,4574,5373,9947	9	2	9	0
chr15	42687884	42687884	C	G	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.C6306G:p.D2102E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	.	.	.	.	.	.	1.000	N	0.49	N	0.07	T	-1.022	T	0.071	T	0.027	2.559	14.52	-2.75	0.061	-0.523	2.34	0.088	0.0332129405883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.221e-07	6.84e-07	0	1.463e-06	2.798e-05	0	0	.	.	0	0	0	2.798e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698	0.04200	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.145	0.08828	N	0.07	0.61677	T	-0.39	0.13611	N	0.013	0.00142	-1.0225	0.22899	T	0.071	0.29066	T	7	0.049752116	0.04610	T	0.033213	0.54826	D	0.088	0.25558	0.031	0.00008	0.0666544352282	0.05500	0.012645211082829384	0.01223	.	.	0.218173280358	0.01206	T	0.003049	0.02453	T	-0.306149	0.08092	T	-0.677539	0.07135	T	0.0464627834961034	0.04868	T	0.282272	0.04954	T	0.04066147	0.05847	0.032782238	0.02066	0.04066147	0.05846	0.032782238	0.02066	-2.906	0.09203	T	.	.	0.202	0.42606	B	.	.	0.503794	0.08731	5.502	0.94936434305988415	0.25826	0.02822	0.07558	N	AEFDGBI	0.043169	0.06790	N	-0.844617416329441	0.12182	0.5922837	-0.952171146033122	0.10873	0.5504311	0.999772128723892	0.42865	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.95	-2.75	0.05564	-0.363000	0.07645	0.959000	0.22978	0.599000	0.40250	0.000000	0.06391	0.990000	0.31317	0.133000	0.19684	0.5062:0.2183:0.1185:0.157	2.34	0.03997	91	0.96221	.	.	.	.	.	.	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	2476.98	38	chr15	42687884	.	C	G	2476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=1439;ExcessHet=0.0000;FS=1.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=-3.890e-01;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,68:162:99:0|1:42687884_C_G:2491,0,3671:42687884	20	0	1	0
chr15	44598762	44598762	C	T	exonic	SPG11	.	nonsynonymous SNV	SPG11:NM_001160227:exon22:c.G3761A:p.C1254Y	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.32	M	-1.55	D	0.508	D	0.732	D	0.942	4.448	23.7	6.03	2.854	5.558	20.567	0.748	0.124263262594	.	.	8.246e-06	9.641e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs765788274	1.368e-06	1.368e-06	2.722e-06	0	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-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	0.991	0.79672	D	0.000004	0.62929	D	0.105780	1	0.81001	D	2.7	0.79018	M	-1.55	0.81727	D	-8.28	0.97330	D	0.91	0.91162	0.508	0.90654	D	0.732	0.90830	D	10	0.8965622	0.89011	D	0.124263	0.80558	D	0.748	0.91328	.	.	0.896610966253	0.89558	0.7483631404161051	0.74782	0.299618368744	0.32332	0.747462749481	0.74072	T	0.541733	0.84322	D	0.279467	0.81271	D	0.345187	0.90126	D	0.996544897556305	0.89565	D	0.878912	0.63332	D	0.7336119	0.79928	0.9178329	0.96245	0.7336119	0.79930	0.9178329	0.96245	-7.939	0.62121	D	0.8627618995513873	0.92578	0.909	0.84389	P	.;.;.;.	.;.;.;.	4.537215	0.71281	25.6	0.99751726200645507	0.84305	0.97897	0.77954	D	AEFBI	0.695066	0.65386	D	0.850742668715354	0.89148	9.854713	0.840038599409771	0.92422	11.41652	0.999999999992236	0.74766	0.75658	0.98901	0	0.724815	0.89359	0	0.643519	0.47002	0	0.656636	0.63459	0	.	.	6.03	6.03	0.97798	5.653000	0.67639	5.899000	0.50862	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.567	0.99354	141	0.94388	.;.;.;.	.	.	.	.	.	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	0.02381	1272.98	36	chr15	44598762	.	C	T	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.544e+00;DP=782;ExcessHet=0.0000;FS=2.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=0.411;SOR=0.575	GT:AD:DP:GQ:PL	0/1:32,54:86:99:1287,0,851	20	0	1	0
chr15	48520811	48520811	C	T	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon10:c.G995A:p.R332H,	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1472171	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Marfan_syndrome	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.167	B	0.018	B	0.000	D	1.000	D	1.79	L	-3.16	D	0.317	D	0.745	D	0.428	4.287	22.4	5.65	2.941	5.682	19.914	0.459	0.102967309227	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.066e-05	1.29e-05	2	154602	rs748929044	2.189e-05	2.189e-05	2.586e-05	1.788e-05	8.116e-05	1.584e-05	1.356e-05	3.765e-05	2.662e-05	0	0	0	0	0	0	2.158e-05	1.656e-05	8.116e-05	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.05	0.39575	D	0.028	0.54934	D	.	.	.	.	.	.	0.000001	0.62929	D	0.102090	1	0.81001	D	.	.	.	-3.16	0.92996	D	-3.78	0.71519	D	0.435	0.47395	0.317	0.87822	D	0.745	0.91309	D	10	0.43720043	0.57870	T	0.102967	0.77674	D	0.459	0.75687	.	.	0.729498838671	0.72709	.	.	1.50559008858	0.87129	0.691678524017	0.65947	T	.	.	.	0.0803622	0.62083	D	-0.0254877	0.68667	D	0.876788914203644	0.52667	D	0.960504	0.85148	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50609	B	.	.	5.442819	0.90959	32	0.99876483193388688	0.95328	0.96417	0.69036	D	ALL	0.798760	0.72522	D	0.239037407595599	0.53098	3.480389	0.400893849214677	0.61621	4.364747	0.999999999999998	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.650271	0.49498	0	0.735409	0.98432	0	.	.	5.65	5.65	0.86881	5.937000	0.69877	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.914	0.97044	635	0.64580	.	.	.	.	.	.	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	1039.98	36	chr15	48520811	.	C	T	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.473;DP=797;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.584;SOR=0.586	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1054,0,1102	20	0	1	0
chr15	48843451	48843451	G	C	exonic	SHC4	.	nonsynonymous SNV	SHC4:NM_203349:exon10:c.C1441G:p.Q481E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.115	B	0.086	B	0.085	N	1.000	N	0.895	L	3.57	T	-1.046	T	0.053	T	0.289	0.974	8.977	5.0	2.591	1.475	13.345	0.048	0.00506380552288	.	.	8.248e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs762053961	2.052e-06	2.052e-06	2.723e-06	1.375e-06	5.975e-05	5.5e-07	1.5e-07	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	1.656e-05	0	6.572e-06	6.566e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.503	0.09209	T	1.0	0.01155	T	0.016	0.26429	B	0.024	0.29521	B	0.084939	0.20669	N	0.438805	1	0.08975	N	1.59	0.40313	L	3.57	0.29342	T	-0.33	0.14193	N	0.194	0.29889	-1.0461	0.15505	T	0.053	0.22462	T	10	0.07437709	0.11362	T	0.005064	0.12815	T	0.048	0.13305	0.234	0.16305	0.427368086475	0.42351	0.24465190171238133	0.24379	0.155766135501	0.17579	0.31767642498	0.13068	T	0.074686	0.43603	T	-0.335537	0.05704	T	-0.538224	0.18472	T	0.119738021707469	0.14405	T	0.763424	0.38984	T	0.09783444	0.23067	0.11468611	0.27685	0.09783444	0.23067	0.11468611	0.27684	-3.925	0.22738	T	.	.	0.067	0.05800	B	.;.;.	.;.;.	1.072704	0.14550	11.12	0.35930082614591474	0.02283	0.16733	0.19524	N	AEFI	0.146615	0.27011	N	-0.587456672638184	0.19325	1.01049	-0.509461220099322	0.21896	1.186688	0.456176183539183	0.20584	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	1.077000	0.30353	7.315000	0.58141	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.204000	0.22012	0.0:0.0:0.8433:0.1567	13.345	0.60005	255	0.89985	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	603.98	34	chr15	48843451	.	G	C	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.291e+00;DP=738;ExcessHet=0.0000;FS=2.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.681;SOR=0.340	GT:AD:DP:GQ:PL	0/1:25,23:48:99:618,0,749	20	0	1	0
chr15	48890768	48890768	C	T	exonic	SHC4	.	nonsynonymous SNV	SHC4:NM_203349:exon3:c.G700A:p.G234R,	.	.	.	.	.	.	.	.	.	.	.	2676611	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.864	P	0.784	P	0.000	D	1.000	D	2.36	M	2.46	T	-1.034	T	0.116	T	0.686	4.726	26.3	5.39	2.814	4.192	19.34	0.184	0.0215869082054	0.0004	0.000399361	5.766e-05	0.0005	8.637e-05	0	0	1.498e-05	0	0	7.12e-05	11	154602	rs149221308	4.72e-05	4.72e-05	4.084e-05	5.363e-05	0.0015	3.794e-05	3.476e-05	0.0012	0.0010	0.0015	0	0	0	0	0	0	0.0003	2.319e-05	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	6.539e-05	0	0	0	0	0	0	0	0.022	0.48642	D	0.033	0.53072	D	0.864	0.47514	P	0.784	0.57456	P	0.000001	0.84330	D	0.000000	0.999922	0.51308	D	1.995	0.54099	M	2.46	0.14907	T	-5.35	0.84742	D	0.659	0.66873	-1.0341	0.19141	T	0.116	0.40942	T	10	0.32067674	0.49440	T	0.021587	0.44379	T	0.184	0.45763	0.542	0.65446	0.696367886986	0.69375	0.42814666691527975	0.42731	0.253272488002	0.27901	0.608705937862	0.54133	T	0.290117	0.66290	T	-0.303505	0.08332	T	-0.249274	0.49888	T	0.323841763195842	0.25977	T	0.905509	0.66687	D	0.6343421	0.74530	0.7391795	0.84583	0.6343421	0.74531	0.7391795	0.84584	-8.628	0.65274	D	.	.	0.228	0.46085	B	.	.	4.321248	0.66132	24.9	0.99940301954594268	0.99767	0.95949	0.66854	D	AEFGBI	0.654074	0.62689	D	0.676165536215076	0.78071	6.79825	0.674881879044124	0.80476	7.307271	0.99999999998465	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.39	5.39	0.77615	4.317000	0.58976	4.715000	0.44476	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.34	0.94325	344	0.85734	PTB/PI domain|Phosphotyrosine interaction  domain, Shc-like|PTB/PI domain|PTB/PI domain|Phosphotyrosine interaction  domain, Shc-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	1024.98	33	chr15	48890768	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.473;SOR=0.646	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1039,0,907	20	0	1	0
chr15	48992287	48992287	T	C	exonic	SECISBP2L	.	nonsynonymous SNV	SECISBP2L:NM_014701:exon17:c.A3128G:p.N1043S	.	.	421	1100	1	0	0	1	0.000454339	.	.	2355026	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.396	N	1.000	N	0.345	N	-0.61	T	-0.982	T	0.107	T	0.024	-1.605	0.014	-8.41	-1.699	-0.469	6.110	0.079	0.0138710660462	0.0004	.	0.0001	0.0008	0.0002	0	0	6.021e-05	0	6.275e-05	0.0001423	22	154602	rs145854377	8.218e-05	8.209e-05	7.768e-05	8.672e-05	0.0026	7.009e-05	6.559e-05	0.0016	0.0013	0.0012	4.535e-05	0	0	0	0.0026	4.498e-05	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0002	0.0007	0.0006	0.0009	0	0	0	0	0	0.0068	0.0001	0.0005	0	0.338	0.12796	T	0.194	0.29153	T	0.0	0.02946	B	0.0	0.01387	B	0.395935	0.13190	N	0.703897	1	0.08975	N	0.255	0.09829	N	-0.62	0.71895	T	-0.37	0.13226	N	0.057	0.06720	-0.9823	0.34468	T	0.107	0.39027	T	10	0.016802818	0.00356	T	0.013871	0.33594	T	0.079	0.23065	.	.	0.210429274316	0.20668	0.19185748753039714	0.19103	0.165552891	0.18672	0.303120076656	0.10867	T	0.007557	0.06959	T	-0.543935	0.00317	T	-0.646837	0.09177	T	0.010538394200262	0.00146	T	0.69713	0.30670	T	0.013053542	0.00048	0.017225293	0.00028	0.013053542	0.00048	0.017225293	0.00028	-2.055	0.03706	T	.	.	0.065	0.02012	B	.;.	.;.	-0.915258	0.00900	0.033	0.37949500490053634	0.02531	0.15252	0.18820	N	AEFBCI	0.031709	0.03443	N	-1.79723563953983	0.00552	0.02376389	-1.86698415606245	0.00568	0.02519615	0.999997930202128	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-8.41	0.00840	-0.454000	0.06845	-2.310000	0.03917	-0.731000	0.03728	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.0976:0.4686:0.1003:0.3335	6.110	0.19315	716	0.55970	.;.	.	.	.	.	.	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	968.98	60	chr15	48992287	.	T	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.368e+00;DP=1005;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.02;SOR=0.397	GT:AD:DP:GQ:PL	0/1:30,40:70:99:983,0,803	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	0/1:74,35:124:64:64,0,1453	4	0	13	4
chr15	53705981	53705981	T	C	exonic	WDR72	.	nonsynonymous SNV	WDR72:NM_182758:exon10:c.A1048G:p.T350A,	Amelogenesis imperfecta, type IIA3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2382227	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.816	P	0.158	B	0.000	D	0.867	D	2.14	M	2.34	T	-1.009	T	0.045	T	0.64	2.699	14.98	5.77	2.202	3.429	15.268	0.128	0.00753007949164	0.0006	0.000399361	0.0001	0.0014	0	0	0	0	0	0	0.0001229	19	154602	rs138509133	3.831e-05	3.831e-05	4.764e-05	2.888e-05	0.0013	3.025e-05	2.719e-05	0.0010	0.0009	0.0013	0	0	0	0	0	0	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0	0	0	0	0	0	0.0005	0	0.173	0.23095	T	0.209	0.28764	T	0.816	0.45573	P	0.158	0.34617	B	0.000006	0.62929	D	0.065858	0.866762	0.35487	D	1.95	0.52479	M	2.34	0.40218	T	-1.42	0.39314	N	0.591	0.68169	-1.0093	0.27136	T	0.045	0.19397	T	10	0.0326429	0.01420	T	0.00753	0.19979	T	0.128	0.35103	.	.	0.213573922156	0.20996	0.5573298079852335	0.55659	0.036072396587	0.03809	0.627411603928	0.56779	T	0.023438	0.17891	T	-0.333229	0.05870	T	-0.29197	0.45566	T	0.0700068401055901	0.08652	T	0.709529	0.32034	T	0.16180551	0.36215	0.18341325	0.41329	0.16180551	0.36215	0.18341325	0.41328	-8.253	0.62781	D	0.489895577446836	0.56699	0.123	0.29995	B	.;.;.;.;.	.;.;.;.;.	3.641686	0.51634	23.1	0.99201993664612986	0.55321	0.94782	0.62311	D	AEFI	0.578522	0.57969	D	0.318908195553475	0.57119	3.878163	0.401766130208602	0.61675	4.370955	0.11552411250434	0.16757	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	3.384000	0.52216	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.268	0.73380	921	0.19240	.;.;.;.;.	.	.	.	.	.	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	1034.98	35	chr15	53705981	.	T	C	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=768;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.820;SOR=0.578	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1049,0,827	20	0	1	0
chr15	55466987	55466987	T	C	exonic	DNAAF4	.	nonsynonymous SNV	DNAAF4:NM_001033559:exon5:c.A580G:p.K194E	Ciliary dyskinesia, primary, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.587	P	0.225	B	0.538	U	1.000	N	0	N	3.37	T	-1.046	T	0.052	T	0.348	-0.433	1.986	1.25	0.259	-0.137	3.415	0.025	0.0022396211705	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375381061	1.398e-06	3.421e-06	0	2.812e-06	3.214e-05	2.3e-07	9e-08	.	.	3.214e-05	0	0	0	0	0	0	1.696e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.16358	T	0.678	0.06836	T	0.587	0.38961	P	0.225	0.38015	B	0.538238	0.05297	U	1.298900	1	0.08975	N	.	.	.	2.69	0.46028	T	-0.51	0.19509	N	0.129	0.14196	-1.0455	0.15680	T	0.052	0.22114	T	10	0.05284649	0.05383	T	0.00224	0.04260	T	0.025	0.05312	0.209	0.12639	0.436239592564	0.43243	0.2341318917520675	0.23328	0.0611604920737	0.06807	0.391032367945	0.23816	T	0.001727	0.01148	T	-0.17975	0.23772	T	-0.495975	0.22766	T	0.0188925433903933	0.00599	T	0.564244	0.19889	T	0.06191256	0.12875	0.042601142	0.05110	0.06191256	0.12874	0.042601142	0.05110	-3.51	0.16572	T	0.13321935295039253	0.14277	0.064	0.02257	B	.;.;.;.	.;.;.;.	-0.075334	0.03791	0.799	0.84426479221199102	0.15285	0.01833	0.05688	N	AEI	0.042175	0.06512	N	-1.15541559654664	0.05691	0.2601152	-1.16721175956437	0.06464	0.3112531	5.79464058165074E-5	0.04171	0.638212	0.43195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	3.56	1.25	0.20475	-0.238000	0.08995	0.719000	0.20997	-0.680000	0.04236	0.000000	0.06391	0.895000	0.27885	0.558000	0.30364	0.0:0.1283:0.2387:0.633	3.415	0.06946	824	0.40336	.;.;.;.	.	.	.	.	.	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	939.98	35	chr15	55466987	.	T	C	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.09;ReadPosRankSum=-7.470e-01;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,26:55:99:0|1:55466987_T_C:954,0,1078:55466987	20	0	1	0
chr15	57528663	57528663	A	G	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon13:c.A3049G:p.M1017V	.	.	425	1064	33	0	0	33	0.0152707	.	.	3213679	CGNL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.001	B	0.157	N	1.000	N	-0.695	N	-0.98	T	-1.012	T	0.110	T	0.201	1.076	9.394	-0.596	0.011	0.331	2.857	0.094	0.0128928824856	0.0031	0.00219649	0.0041	0.0007	0.0017	0	0.0009	0.0047	0.0066	0.0089	0.003868	598	154602	rs143875419	0.0034	0.0034	0.0031	0.0036	0.0160	0.0033	0.0032	0.0133	0.0123	0.0007	0.0015	0.0151	0	0.0006	0.0160	0.0030	0.0046	0.0083	0.0024	0.0024	0.0025	0.0023	0.0054	0.0022	0.0021	0.0038	0.0032	0.0007	0	0.0009	0.0147	0.0002	0.0005	0.0102	0.0034	0.0038	0.0054	0.265	0.16305	T	0.298	0.20486	T	0.0	0.02946	B	0.001	0.04355	B	0.156728	0.17791	N	0.563027	1	0.08975	N	0.755	0.19153	N	-0.98	0.75789	T	-0.99	0.26200	N	0.346	0.38746	-1.0123	0.26196	T	0.110	0.39604	T	10	0.0060846806	0.00137	T	0.012893	0.31852	T	0.094	0.27141	.	.	0.388812400583	0.38497	0.0765844821428655	0.07594	0.0182184612372	0.01780	0.310427963734	0.11972	T	0.091985	0.38910	T	-0.458515	0.01004	T	-0.425287	0.30471	T	0.0058445083489316	0.00064	T	0.717028	0.32946	T	0.047262155	0.08048	0.07580144	0.16726	0.047262155	0.08048	0.07580144	0.16725	-4.751	0.34015	T	.	.	0.125	0.26325	B	.	.	1.777765	0.22607	15.69	0.82642809633882053	0.14299	0.12191	0.17116	N	AEFGBCI	0.120387	0.23454	N	-0.961790081571864	0.09429	0.4462266	-0.873752528690523	0.12717	0.655819	0.997561962709294	0.35763	0.706548	0.73137	0	0.627178	0.54094	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	-0.596	0.11072	0.367000	0.20116	2.695000	0.34117	0.731000	0.85647	0.023000	0.19925	1.000000	0.68203	0.998000	0.85391	0.3895:0.328:0.0665:0.2159	2.857	0.05232	350	0.85473	Myosin tail|Myosin tail	.	.	.	.	.	Likely benign	0	0	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	457.98	34	chr15	57528663	.	A	G	457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.357e+00;DP=738;ExcessHet=0.0000;FS=4.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.090e-01;SOR=0.260	GT:AD:DP:GQ:PL	0/1:30,20:50:99:472,0,826	20	0	1	0
chr15	62068167	62068167	C	G	exonic	C2CD4A	.	nonsynonymous SNV	C2CD4A:NM_207322:exon2:c.C554G:p.P185R,	.	.	439	1030	50	3	0	56	0.026465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.926	P	0.528	P	0.020	N	1.000	N	2.3	M	1.54	T	-1.036	T	0.089	T	0.155	2.429	14.08	2.27	0.540	1.115	5.297	0.048	.	.	0.0131789	0.03	.	.	.	.	0	.	0.0349	0.0009379	145	154602	rs559668449	0.0070	0.0059	0.0070	0.0070	0.0219	0.0069	0.0068	0.0196	0.0190	0.0013	0.0054	0.0016	0	0.0004	0.0219	0.0071	0.0080	0.0210	0.0050	0.0050	0.0048	0.0052	0.0240	0.0047	0.0046	0.0205	0.0192	0.0011	0	0.0077	0.0023	0.0002	0.0001	0.0103	0.0066	0.0086	0.0240	0.19	0.21144	T	0.466	0.12386	T	0.926	0.51467	P	0.528	0.48482	P	0.020106	0.27110	N	0.407190	1	0.08975	N	2.23	0.63091	M	1.54	0.30133	T	-2.83	0.59710	D	0.106	0.09066	-1.0358	0.18606	T	0.089	0.34271	T	10	0.0044558644	0.00091	T	.	.	.	0.048	0.13305	.	.	0.415564226483	0.41173	0.07747823605056867	0.07683	.	.	0.872018814087	0.92856	D	0.03263	0.22570	T	-0.537915	0.00345	T	-0.535066	0.18784	T	0.171884057492972	0.18707	T	0.483152	0.14651	T	0.09187982	0.21540	0.20716713	0.44964	0.09187982	0.21540	0.20716713	0.44963	-3.416	0.15273	T	.	.	0.178	0.38889	B	.	.	3.650064	0.51800	23.1	0.98715369769127048	0.45113	0.13037	0.17627	N	AEFDBCI	0.110325	0.21882	N	-0.298369936313342	0.29211	1.617939	-0.515289432310434	0.21738	1.177369	0.995113771093858	0.33959	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.19	2.27	0.27501	1.022000	0.29655	4.841000	0.45285	0.426000	0.20854	0.002000	0.15269	0.653000	0.25975	0.253000	0.23340	0.2009:0.6818:0.0:0.1173	5.297	0.15066	868	0.31772	.	.	.	.	.	.	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	225.46	21	chr15	62068167	.	C	G	225.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.970e-01;DP=462;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0488;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=1.83;SOR=0.838	GT:AD:DP:GQ:PL	0/1:10,2:12:13:13,0,243	19	0	2	0
chr15	65076904	65076904	G	A	exonic	KBTBD13	.	nonsynonymous SNV	KBTBD13:NM_001101362:exon1:c.G89A:p.G30D,	Nemaline myopathy 6, autosomal dominant, Autosomal dominant	.	4	1466	49	3	0	55	0.0184131	.	.	255321	Nemaline_myopathy_6|not_provided|not_specified	MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.007	B	0.009	B	.	.	0.539	N	-0.77	N	-0.46	T	-0.962	T	0.054	T	0.27	-0.961	0.322	2.65	1.142	2.317	6.114	0.070	.	0.0029	0.00339457	0.0163	0.0012	0.0229	0	0.0056	0.0232	0.0217	0.0122	0.004269	660	154602	rs138484272	0.0045	0.0045	0.0043	0.0048	0.0209	0.0044	0.0044	0.0175	0.0162	0.0010	0.0044	0.0245	7.96e-05	0.0006	0.0209	0.0039	0.0058	0.0096	0.0033	0.0033	0.0034	0.0032	0.0085	0.0031	0.0030	0.0064	0.0057	0.0007	0	0.0027	0.0210	0.0004	0.0006	0.0102	0.0044	0.0052	0.0085	1.0	0.00964	T	1.0	0.01155	T	0.007	0.14184	B	0.009	0.14300	B	.	.	.	.	0.538675	0.31430	N	-0.695	0.01866	N	-0.46	0.70014	T	3.17	0.00119	N	0.179	0.19325	-0.9619	0.38819	T	0.054	0.23034	T	9	0.0052545667	0.00115	T	.	.	.	0.070	0.20419	.	.	0.278968121808	0.27521	0.47289678639966026	0.47208	0.695823666407	0.60829	0.672580480576	0.63206	T	0.108013	0.42070	T	-0.437458	0.01338	T	-0.393193	0.34177	T	0.0051036057448719	0.00055	T	0.643236	0.25495	T	0.09718357	0.22903	0.14858682	0.35117	0.09718357	0.22902	0.14858682	0.35116	-0.14	0.00402	T	0.06970129347696491	0.02634	0.131	0.28203	B	.	.	1.861609	0.23646	16.10	0.89021080283419685	0.18446	0.67065	0.33298	D	AEFDBI	0.236386	0.35884	N	-0.67063207486362	0.16862	0.8628127	-0.451751334981901	0.23499	1.281822	0.89356670736271	0.25909	0.582742	0.33608	0	0.588066	0.40923	0	0.578056	0.29568	0	0.620976	0.48614	0	.	.	4.58	2.65	0.30588	2.348000	0.43701	3.884000	0.40256	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.635000	0.32288	0.4083:0.0:0.5917:0.0	6.114	0.19340	315	0.87208	BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1323.11	35	chr15	65076904	.	G	A	1323.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.020e-01;DP=790;ExcessHet=0.1072;FS=0.789;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.930e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:21,17:38:99:422,0,612	19	0	2	0
chr15	73927562	73927562	-	GCC	exonic	LOXL1	.	nonframeshift insertion	LOXL1:NM_005576:exon1:c.779_780insGCC:p.P267_D268insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0158	0.0104	0.0208	0	.	0.0085	0.0175	0.0187	0.0005763	15	26028	rs776481735	0.0045	0.0035	0.0041	0.0050	0.0200	0.0044	0.0044	0.0192	0.0188	0.0017	0.0024	0.0148	0.0005	0.0075	0.0079	0.0032	0.0056	0.0200	0.0031	0.0031	0.0030	0.0031	0.0238	0.0028	0.0027	0.0199	0.0184	0.0017	0.0011	0.0017	0.0059	0.0012	0.0029	0.0070	0.0029	0.0044	0.0238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	994.69	87	chr15	73927562	.	T	TGCC	994.69	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=1736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-6.520e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/1:39,27:66:99:1008,0,1555	18	0	1	2
chr15	74075735	74075735	A	G	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon9:c.T707C:p.I236T,	.	.	492	1022	8	0	0	8	0.00389864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.478	P	0.065	B	.	.	1.000	N	2.265	M	1.88	T	-1.021	T	0.060	T	0.186	2.103	12.99	1.51	0.978	3.246	7.195	0.088	.	.	.	0.0266	0	0	0	0.0714	0.0071	0	0.1047	0.0008861	137	154602	rs773671731	0.0019	0.0023	0.0013	0.0024	0.0162	0.0018	0.0018	0.0154	0.0151	0.0001	0.0009	0.0047	0	0.0021	0.0021	0.0007	0.0019	0.0162	0.0017	0.0022	0.0014	0.0020	0.0173	0.0015	0.0014	0.0138	0.0125	0.0002	0	0.0016	0.0037	0	0.0056	0.0108	0.0010	0.0029	0.0173	0.015	0.52492	D	0.009	0.66756	D	0.478	0.36706	P	0.065	0.27321	B	.	.	.	.	1	0.08975	N	2.65	0.77586	M	1.88	0.23884	T	-2.95	0.61580	D	0.101	0.08366	-1.0210	0.23389	T	0.060	0.25054	T	9	0.0056511164	0.00125	T	.	.	.	0.088	0.25558	0.409	0.44395	0.101711395817	0.09552	0.28949658689042135	0.28862	3.21115196292	0.99499	0.529025614262	0.42897	T	0.120839	0.44336	T	-0.198571	0.21012	T	-0.52301	0.19990	T	0.0608228038820783	0.07298	T	0.90391	0.66280	D	0.12767006	0.29868	0.12087362	0.29167	0.12767006	0.29868	0.12087362	0.29167	-8.908	0.67103	D	.	.	0.674	0.71900	P	.	.	2.922249	0.38794	20.8	0.98723343158482113	0.45230	0.33268	0.24787	N	AEFI	0.108075	0.21511	N	-0.440337393974588	0.24069	1.297024	-0.572697343504138	0.20206	1.087585	0.00170578783311951	0.08799	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.51	1.51	0.22094	3.439000	0.52642	7.797000	0.69042	0.355000	0.20016	0.973000	0.34540	0.964000	0.29435	0.001000	0.02609	1.0:0.0:0.0:0.0	7.195	0.25026	829	0.39537	.	.	.	.	.	.	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	0.025	175.34	34	chr15	74075735	.	A	G	175.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.94;DP=491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0261;MLEAC=1;MLEAF=0.025;MQ=32.11;MQRankSum=2.90;QD=7.97;ReadPosRankSum=-7.400e-02;SOR=0.157	GT:AD:DP:GQ:PL	0/1:16,6:22:99:189,0,442	19	0	1	1
chr15	75289647	75289647	T	C	exonic	GOLGA6D	.	nonsynonymous SNV	GOLGA6D:NM_001145224:exon9:c.T707C:p.I236T,	.	.	557	944	19	2	0	23	0.0120356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.833	P	0.139	B	.	.	1.000	N	2.265	M	1.88	T	-1.021	T	0.058	T	0.213	1.987	12.60	2.28	1.007	3.868	8.469	0.119	0.00796519432275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215069065	0.0044	0.0042	0.0033	0.0053	0.0253	0.0042	0.0042	0.0242	0.0238	0.0002	0.0016	0.0082	0	0.0039	0.0046	0.0020	0.0034	0.0253	0.0018	0.0019	0.0014	0.0023	0.0167	0.0015	0.0014	0.0118	0.0102	0	0	0.0016	0.0032	0	0.0059	0.0119	0.0014	0.0013	0.0167	0.005	0.63226	D	0.009	0.66756	D	0.833	0.46172	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	2.65	0.77586	M	1.88	0.23884	T	-2.95	0.61580	D	0.253	0.28616	-1.0210	0.23389	T	0.058	0.24391	T	9	0.012281328	0.00265	T	0.007965	0.21110	T	0.119	0.33137	0.4	0.42917	0.0666544352282	0.05500	0.33568783136035263	0.33481	3.32765753199	0.99616	0.713933944702	0.69163	T	0.127012	0.45376	T	-0.188671	0.22454	T	-0.508789	0.21439	T	0.852578818798065	0.50389	D	0.90061	0.66280	D	0.16182752	0.36218	0.16693573	0.38538	0.16182752	0.36218	0.16693573	0.38538	-8.982	0.67581	D	.	.	0.737	0.74489	P	.;.	.;.	2.992315	0.39950	21.1	0.98367542472321956	0.40709	0.79108	0.39138	D	AEFI	0.156180	0.28149	N	-0.232537073474553	0.31805	1.787172	-0.381771426266653	0.25540	1.405196	0.0122133597378084	0.12295	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.28	2.28	0.27583	3.837000	0.55524	4.870000	0.45558	0.203000	0.17936	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.0:1.0	8.469	0.32136	508	0.75398	.;.	.	.	.	.	.	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	0.02632	93.02	12	chr15	75289647	.	T	C	93.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.50;DP=236;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0452;MLEAC=1;MLEAF=0.026;MQ=27.01;MQRankSum=-1.132e+00;QD=4.65;ReadPosRankSum=0.619;SOR=0.197	GT:AD:DP:GQ:PL	0/1:14,6:20:99:106,0,368	18	0	1	2
chr15	77018522	77018522	C	T	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon3:c.C203T:p.T68M	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	2	1505	15	0	0	15	0.00495868	.	.	333093	Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome|Autoinflammatory_syndrome|Behcet_disease|not_provided	MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.975	D	0.000	D	0.998	D	2.045	M	2.22	T	-1.052	T	0.095	T	0.427	2.583	14.60	2.8	2.136	2.113	12.880	0.110	.	0.0003	0.00259585	0.0041	0	0	0	0	0.0009	0	0.0138	0.0014036	217	154602	rs201872851	0.0012	0.0012	0.0009	0.0015	0.0106	0.0011	0.0011	0.0101	0.0098	0.0002	0.0002	3.954e-05	0.0001	0.0004	0.0022	0.0006	0.0011	0.0106	0.0008	0.0008	0.0007	0.0009	0.0131	0.0007	0.0007	0.0105	0.0095	0.0001	0.0088	0.0001	0	0.0010	9.422e-05	0	0.0006	0.0005	0.0131	0.081	0.40068	T	0.006	0.70582	D	0.997	0.70673	D	0.96	0.70309	D	0.000132	0.49741	D	0.129712	0.998273	0.44710	D	2.695	0.78878	M	2.22	0.18248	T	-3.34	0.67359	D	0.649	0.67391	-1.0518	0.13899	T	0.095	0.35818	T	10	0.008586079	0.00194	T	.	.	.	0.110	0.31079	.	.	0.444102476654	0.44032	0.20512035705097484	0.20429	0.273339174114	0.29833	0.542813420296	0.44843	T	0.217498	0.57996	T	-0.437978	0.01329	T	-0.394083	0.34074	T	0.0456250258513416	0.04715	T	0.805819	0.75281	T	0.20762521	0.42974	0.32661963	0.58568	0.2633664	0.49401	0.28573403	0.54577	-6.632	0.51297	T	0.299791559136237	0.39707	0.095	0.14888	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.616532	0.73258	26.0	0.99715263890427619	0.81633	0.69683	0.34285	D	AEFDBI	0.312195	0.41771	N	0.404765875198445	0.61682	4.372834	0.338445706913134	0.57815	3.948715	0.999990992634835	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.81	2.8	0.31881	3.602000	0.53818	4.862000	0.45480	0.549000	0.26987	0.995000	0.38783	1.000000	0.68203	0.901000	0.43729	0.0:0.8341:0.1659:0.0	12.880	0.57400	294	0.88270	FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;.;FCH domain|F-BAR domain|FCH domain;F-BAR domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	346.98	33	chr15	77018522	.	C	T	346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=736;ExcessHet=0.0000;FS=3.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.500;SOR=1.006	GT:AD:DP:GQ:PL	0/1:20,15:35:99:361,0,488	20	0	1	0
chr15	78800271	78800271	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon2:c.C377T:p.P126L,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2814405	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.203	B	0.029	B	0.798	N	1.000	N	1.65	L	3.38	T	-1.037	T	0.022	T	0.276	0.098	4.527	3.76	2.095	0.188	14.687	0.112	0.0143355731595	0.0013	0.00119808	0.0029	0.0008	0.0022	0	0.0016	0.0040	0.0014	0.0022	0.0023609	365	154602	rs61754850	0.0031	0.0031	0.0031	0.0031	0.0035	0.0030	0.0030	0.0034	0.0034	0.0004	0.0011	0.0045	0	0.0009	0.0002	0.0035	0.0028	0.0024	0.0021	0.0021	0.0022	0.0020	0.0038	0.0019	0.0019	0.0034	0.0032	0.0007	0	0.0007	0.0032	0	0.0003	0	0.0038	0.0014	0.0027	0.038	0.42783	D	0.088	0.40586	T	0.203	0.29776	B	0.029	0.21540	B	0.797685	0.09348	N	0.910047	1	0.08975	N	1.675	0.43121	L	3.38	0.05778	T	-4.26	0.76174	D	0.247	0.27910	-1.0374	0.18109	T	0.022	0.09284	T	10	0.008744389	0.00198	T	0.014336	0.34391	T	0.112	0.31546	.	.	0.474643619859	0.47091	0.48952274910169474	0.48872	0.200827059013	0.22483	0.688226163387	0.65451	T	0.031088	0.21883	T	-0.565788	0.00234	T	-0.584401	0.14154	T	0.0443665306092564	0.04486	T	0.446155	0.12501	T	0.10231262	0.24175	0.10287422	0.24668	0.10231262	0.24175	0.10287422	0.24667	-5.037	0.37239	T	.	.	0.089	0.12084	B	.	.	1.179933	0.15702	12.04	0.80685856799656974	0.13320	0.15787	0.19081	N	AEFDBI	0.106886	0.21312	N	-0.660229358954852	0.17163	0.8808279	-0.702048938662317	0.16909	0.8967393	0.763175771759835	0.23544	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.76	3.76	0.42368	0.014000	0.13228	3.323000	0.37562	-0.109000	0.15193	0.000000	0.06391	0.999000	0.35428	0.000000	0.00833	0.0:0.0:1.0:0.0	14.687	0.68662	590	0.68897	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	2174.98	40	chr15	78800271	.	G	A	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.222;DP=2057;ExcessHet=0.0000;FS=4.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=2.91;QD=13.43;ReadPosRankSum=-7.020e-01;SOR=0.412	GT:AD:DP:GQ:PL	0/1:75,87:162:99:2189,0,1795	20	0	1	0
chr15	79463092	79463092	C	T	exonic	MINAR1	.	nonsynonymous SNV	MINAR1:NM_015206:exon3:c.C2324T:p.P775L,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	B	0.11	B	0.128	N	0.971	D	0	N	0.86	T	-1.084	T	0.055	T	0.161	1.529	11.06	3.05	1.133	2.873	7.162	0.081	0.0130803287656	.	0.000399361	0.0002	0	8.657e-05	0	0	3.007e-05	0	0.0010	0.0001358	21	154602	rs577670709	5.952e-05	5.951e-05	2.178e-05	9.765e-05	0.0009	4.883e-05	4.562e-05	0.0007	0.0007	0	0	0	0	0	0.0002	6.296e-06	3.312e-05	0.0009	5.252e-05	5.249e-05	3.854e-05	6.712e-05	0.0014	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0014	0.115	0.28520	T	0.338	0.18125	T	.	.	.	.	.	.	0.127884	0.18751	N	0.594645	0.970839	0.38827	D	.	.	.	0.86	0.46777	T	-4.71	0.79915	D	0.343	0.38438	-1.0841	0.06572	T	0.055	0.23300	T	9	0.031481206	0.01284	T	0.01308	0.32199	T	0.081	0.23632	0.614	0.74768	0.276482976112	0.27267	0.20327638799426895	0.20244	0.0963971141014	0.10881	0.443109542131	0.31002	T	.	.	.	-0.474462	0.00797	T	-0.510656	0.21248	T	0.303259521722794	0.25138	T	0.879712	0.59601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06710	B	.	.	2.007262	0.25502	16.79	0.88221813177776975	0.17809	0.64219	0.32337	D	AEFDBHCI	0.180768	0.30808	N	-0.395905690537063	0.25614	1.391768	-0.294444021123059	0.28282	1.57576	0.621958974853711	0.21893	0.533608	0.22052	0	0.588015	0.36545	0	0.685742	0.62368	0	0.836244	0.99985	0	.	.	5.16	3.05	0.34272	2.897000	0.48363	2.065000	0.30414	0.599000	0.40250	0.998000	0.41325	0.157000	0.23230	0.802000	0.37819	0.4371:0.4452:0.1177:0.0	7.162	0.24847	951	0.11083	.	.	.	.	.	.	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	1255.98	34	chr15	79463092	.	C	T	1255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=797;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-3.730e-01;SOR=0.817	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1270,0,1720	20	0	1	0
chr15	80941946	80941946	C	G	exonic	CEMIP	.	nonsynonymous SNV	CEMIP:NM_018689:exon25:c.C3505G:p.P1169A	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.988	D	0.696	P	0.000	D	0.999	D	1.79	L	1.07	T	-1.010	T	0.091	T	0.295	2.649	14.82	5.76	2.720	7.169	19.950	0.176	.	0.0012	0.00319489	0.0029	0.0004	0.0005	0.0187	0.0006	0.0022	0.0044	0.0017	0.0026196	405	154602	rs16972583	0.0020	0.0020	0.0020	0.0021	0.0196	0.0020	0.0019	0.0185	0.0180	0.0001	0.0005	0.0039	0.0196	0.0008	0	0.0015	0.0021	0.0020	0.0017	0.0017	0.0017	0.0016	0.0180	0.0015	0.0014	0.0151	0.0140	0.0003	0	0.0005	0.0032	0.0180	0.0008	0	0.0016	0.0005	0.0019	0.39	0.10838	T	0.263	0.22828	T	0.988	0.62325	D	0.696	0.54017	P	0.000000	0.84330	D	0.000000	0.998697	0.45291	D	2.2	0.62015	M	1.07	0.39586	T	-1.49	0.36385	N	0.787	0.79214	-1.0095	0.27074	T	0.091	0.34928	T	10	0.0049253404	0.00105	T	.	.	.	0.176	0.44373	.	.	0.482500522706	0.47881	0.6980729888512734	0.69748	1.14086051484	0.78920	0.456891417503	0.32885	T	0.108134	0.42092	T	-0.454302	0.01065	T	-0.407764	0.32482	T	0.0462701278855304	0.04833	T	0.920308	0.71149	D	0.09519161	0.22398	0.20924327	0.45261	0.09519161	0.22398	0.20924327	0.45260	-4.297	0.28135	T	.	.	0.158	0.34840	B	.;.;.	.;.;.	3.465983	0.48328	22.6	0.99029114659797246	0.50764	0.98430	0.82696	D	AEFDBI	0.743409	0.68672	D	0.357304827265003	0.59126	4.089541	0.340383280896566	0.57929	3.960843	0.999999997623724	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.76	5.76	0.90726	7.251000	0.77723	5.681000	0.49295	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	19.950	0.97198	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	1232.98	37	chr15	80941946	.	C	G	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=873;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-5.850e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1247,0,1543	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	0/1:42,7,3:52:27:27,0,978,105,898,1112	8	0	5	0
chr15	84239998	84239998	-	ACGTGAACAGGAGGAGAGGCA	exonic	GOLGA6L4	.	nonframeshift insertion	GOLGA6L4:NM_001267536:exon6:c.644_645insACGTGAACAGGAGGAGAGGCA:p.E219_D220insERQREQE,	.	.	985	495	13	25	4	67	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	.	0	1.29e-05	2	154602	rs779561802	0.0105	0.0058	0.0101	0.0109	0.2682	0.0102	0.0101	0.2596	0.2561	0.0231	0.0037	0.0223	0.2682	0.0079	0.0042	0.0006	0.0141	0.0199	0.0008	0.0050	0.0003	0.0013	0.0208	0.0004	0.0003	0.0027	0.0017	0.0068	0	0	0	0	0	0	0.0001	0.0143	0.0208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3522.01	6	chr15	84239998	.	T	A,TACGTGAACAGGAGGAGAGGCA	3522.01	.	AC=6,3;AF=0.250,0.125;AN=24;BaseQRankSum=-1.282e+00;DP=208;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.6093;MLEAC=9,5;MLEAF=0.375,0.208;MQ=41.82;MQRankSum=2.07;QD=30.81;ReadPosRankSum=0.425;SOR=0.357	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,20:20:59:.:.:625,626,626,59,60,0	7	2	1	9
chr15	84512239	84512239	T	C	exonic	GOLGA6L4	.	unknown	UNKNOWN,	.	.	761	744	17	0	0	17	0.0112957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs369997800	0.0139	0.0100	0.0140	0.0138	0.1652	0.0136	0.0135	0.1613	0.1598	0.0014	0.0007	0.0026	0.1652	0.0049	0.0029	0.0009	0.0116	0.0209	0.0024	0.0033	0.0023	0.0025	0.0521	0.0022	0.0021	0.0458	0.0433	0.0005	0	0.0007	0.0007	0.0521	0.0029	0	0.0004	0.0018	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	244.98	34	chr15	84512239	.	T	C	244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.870e-01;DP=732;ExcessHet=0.0000;FS=1.447;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=41.95;MQRankSum=1.06;QD=8.45;ReadPosRankSum=-6.880e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/1:17,12:29:99:259,0,447	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	0/1:48,45,0:93:99:1184,0,1163,1328,1298,2626	0	11	9	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.505	P	0.383	B	0.000	D	1.000	D	1.175	L	.	.	-0.761	T	0.199	T	0.564	3.915	19.91	6.17	2.371	7.297	16.003	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	499.17	33	chr15	88530840	.	T	C	499.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.938e+00;DP=1723;ExcessHet=1.1607;FS=140.205;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.604;SOR=10.408	GT:AD:DP:GQ:PL	0/1:100,24:124:54:54,0,2307	15	0	5	1
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	0/1:39,31,0,0:72:99:1041,0,1460,1193,1565,2844,1193,1565,2844,2844	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	0/1:39,31,0,0:72:99:1041,0,1460,1193,1565,2844,1193,1565,2844,2844	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	0/1:39,31,0,0:72:99:1041,0,1460,1193,1565,2844,1193,1565,2844,2844	8	0	10	0
chr15	89648269	89648269	C	T	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.G1429A:p.A477T,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	8	1512	1	1	0	3	0.00099108	.	.	195060	Acrocallosal_syndrome|Multiple_epiphyseal_dysplasia,_Al-Gazali_type|Hydrolethalus_syndrome_2|not_specified|not_provided	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MONDO:MONDO:0011778,MedGen:C1846722,OMIM:607131,Orphanet:166024|MONDO:MONDO:0013585,MedGen:C3279899,OMIM:614120,Orphanet:2189|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.203	U	1.000	N	-0.345	N	-0.55	T	-1.024	T	0.083	T	0.047	0.956	8.901	-6.82	-1.495	-0.014	2.060	0.118	.	.	0.00279553	0.0002	0.0059	0	0	0	0	0	0	0.0001294	20	154602	rs527804875	0.0003	0.0003	0.0003	0.0003	0.0113	0.0003	0.0003	0.0103	0.0100	0.0113	0.0005	0	0	0	0.0005	6.56e-06	0.0006	1.276e-05	0.0028	0.0028	0.0032	0.0023	0.0099	0.0026	0.0025	0.0091	0.0088	0.0099	0	0.0007	0	0	0	0	2.941e-05	0.0005	0	0.559	0.06401	T	0.57	0.08808	T	0.0	0.02946	B	0.0	0.01387	B	0.202867	0.16556	U	0.509246	1	0.08975	N	-0.755	0.01709	N	-0.55	0.71068	T	-1.19	0.30346	N	0.025	0.00485	-1.0242	0.22344	T	0.083	0.32614	T	10	0.003024429	0.00050	T	.	.	.	0.118	0.32913	.	.	0.0551355673512	0.04727	0.20072929745993545	0.19989	0.0178254394699	0.01746	0.567517876625	0.48327	T	0.109971	0.42429	T	-0.593427	0.00160	T	-0.615798	0.11518	T	0.00343643856898533	0.00036	T	0.287571	0.05177	T	0.03143527	0.02984	0.047239993	0.06762	0.03143527	0.02983	0.047239993	0.06762	-4.898	0.35713	T	0.13609706674692976	0.14853	0.063	0.01470	B	.	.	-0.030485	0.04076	0.952	0.91576409410832538	0.20856	0.00751	0.03122	N	AEFDBI	0.028504	0.02523	N	-1.768020141321	0.00628	0.02708967	-1.83670617464958	0.00648	0.02883882	0.99999819227737	0.74766	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.604944	0.38103	0	.	.	3.41	-6.82	0.01537	0.009000	0.13117	1.035000	0.23510	-0.210000	0.08370	0.000000	0.06391	0.119000	0.22882	0.011000	0.09372	0.417:0.3174:0.1282:0.1374	2.060	0.03372	843	0.36859	.	.	.	.	.	.	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	840.98	36	chr15	89648269	.	C	T	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=859;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-2.650e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:38,36:74:99:855,0,845	20	0	1	0
chr15	89750582	89750582	C	T	exonic	MESP1	.	nonsynonymous SNV	MESP1:NM_018670:exon1:c.G650A:p.R217H,	.	.	.	.	.	.	.	.	.	.	.	1632067	not_provided|MESP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.6	T	0.024	B	0.001	B	.	.	1.000	N	0	N	-1.19	T	-1.077	T	0.034	T	0.101	1.886	12.27	0.54	-0.068	-2.016	3.644	0.067	.	.	0.00878594	0.0033	0.0714	0	0	0	0	0	0	0.0011125	172	154602	rs144221449	0.0006	0.0007	0.0007	0.0006	0.0262	0.0006	0.0006	0.0246	0.0239	0.0262	0.0017	0	0	0	0.0007	6.819e-06	0.0014	6.627e-05	0.0075	0.0075	0.0082	0.0067	0.0261	0.0071	0.0070	0.0248	0.0243	0.0261	0	0.0027	0	0	0	0	4.411e-05	0.0052	0.0002	0.145	0.25154	T	0.616	0.07543	T	0.024	0.19075	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-1.19	0.78427	T	0.46	0.03140	N	0.077	0.05162	-1.0774	0.07861	T	0.034	0.14421	T	9	0.00254637	0.00039	T	.	.	.	0.067	0.19503	.	.	0.191931220699	0.18833	0.10593136907520866	0.10523	0.551235762849	0.51968	0.661490440369	0.61623	T	0.093455	0.39215	T	-0.554386	0.00274	T	-0.547483	0.17567	T	0.0038373784091033	0.00041	T	0.508249	0.16142	T	0.025223192	0.01436	0.043048576	0.05269	0.025223192	0.01436	0.043048576	0.05269	-5.771	0.44321	T	.	.	0.108	0.20313	B	.	.	0.410290	0.07812	4.504	0.98309925362738926	0.40135	0.02554	0.07084	N	AEFDGBCI	0.131376	0.25029	N	-1.27836638739179	0.03937	0.1767858	-1.29010027339585	0.04563	0.2155344	0.999997763816409	0.74766	0.455138	0.09556	0	0.56911	0.20461	1	0.503968	0.08637	0	0.56751	0.32155	0	.	.	3.58	0.54	0.16354	-2.084000	0.01451	-0.323000	0.09949	-0.238000	0.07553	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5463:0.2085:0.2452	3.644	0.07715	609	0.67094	.	.	.	.	.	.	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	132.98	33	chr15	89750582	.	C	T	132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.984;DP=901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.54;ReadPosRankSum=-6.360e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:17,7:24:99:147,0,400	20	0	1	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|2:0,16,14:30:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1192,504,461,612,0,605:89776889	0	0	0	0
chr15	90765340	90765340	C	T	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon9:c.C2119T:p.P707S	Bloom syndrome, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	132939	BLM-related_disorder|not_provided|not_specified|Bloom_syndrome|Hereditary_cancer-predisposing_syndrome	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.018	B	0.047	B	0.000	D	1.000	D	0.115	N	-0.97	T	-0.805	T	0.226	T	0.533	2.661	14.86	5.6	2.644	1.569	17.123	0.284	0.0184591890883	0.0016	0.000998403	0.0016	0.0004	0.0016	0	0.0003	0.0022	0.0022	0.0012	0.00174	269	154602	rs146077918	0.0020	0.0020	0.0020	0.0021	0.0023	0.0020	0.0019	0.0022	0.0022	0.0004	0.0018	0.0009	2.52e-05	0.0004	0.0021	0.0023	0.0019	0.0016	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0014	0.0023	0.0022	0.0003	0.0044	0.0029	0.0012	0	0.0003	0	0.0026	0.0019	0.0010	0.095	0.31235	T	0.323	0.27679	T	0.018	0.17786	B	0.047	0.24832	B	0.000065	0.52346	D	0.168793	0.999987	0.54805	D	0.98	0.24916	L	-0.97	0.75670	T	-4.41	0.79659	D	0.153	0.19459	-0.8053	0.54831	T	0.226	0.59007	T	10	0.014493585	0.00305	T	0.018459	0.40531	T	0.284	0.60219	.	.	0.864008763442	0.86269	0.5265579632617995	0.52579	0.102639998988	0.11614	0.454432964325	0.32550	T	0.228798	0.59444	T	-0.294338	0.09205	T	-0.194619	0.55155	T	0.0430593173252616	0.04249	T	0.950905	0.81262	D	0.32163432	0.54777	0.41443408	0.65587	0.42169252	0.62205	0.435562	0.67038	-6.941	0.53602	T	0.14693495229786818	0.16988	0.082	0.18622	B	.;.	.;.	2.618897	0.34026	19.51	0.99203767697127287	0.55351	0.93001	0.57076	D	AEFBI	0.468795	0.51545	N	-0.160683240991684	0.34782	1.989516	0.0668568496794711	0.42895	2.602599	0.999999981836099	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	1.661000	0.37024	3.975000	0.40857	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.123	0.86585	636	0.64483	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	915.98	36	chr15	90765340	.	C	T	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=-6.230e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:24,39:63:99:930,0,515	20	0	1	0
chr15	90876318	90876318	C	T	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon3:c.C241T:p.R81C	.	.	364	1140	17	1	0	19	0.00826446	.	.	2814491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.989	D	0.586	P	0.051	N	1.000	D	2.785	M	1.45	T	-0.937	T	0.094	T	0.383	3.104	16.37	3.67	1.170	1.792	11.108	0.144	.	0.0023	0.00199681	0.0027	0.0002	0.0043	0	0	0.0040	0.0022	0.0005	0.0025226	390	154602	rs148110342	0.0019	0.0019	0.0018	0.0020	0.0187	0.0018	0.0018	0.0159	0.0148	0.0006	0.0041	0.0440	0.0003	1.883e-05	0.0187	0.0009	0.0046	0.0005	0.0023	0.0023	0.0022	0.0023	0.0059	0.0021	0.0020	0.0050	0.0046	0.0004	0	0.0059	0.0409	0.0002	0	0	0.0011	0.0076	0.0006	0.07	0.46513	T	0.174	0.70582	T	0.989	0.62824	D	0.586	0.50343	P	0.050699	0.23048	N	0.447962	0.999957	0.52396	D	2.535	0.73915	M	1.45	0.32482	T	-2.77	0.85921	D	0.398	0.43899	-0.9372	0.43057	T	0.094	0.35604	T	10	0.00404045	0.00079	T	.	.	.	0.144	0.38394	.	.	0.561097471998	0.55770	0.6000992533537909	0.59940	1.53222317347	0.87605	0.355705976486	0.18759	T	0.548407	0.84664	D	-0.417001	0.01788	T	-0.373875	0.36436	T	0.0450712634716505	0.04615	T	0.756024	0.48387	T	0.397754	0.60576	0.2696546	0.52848	0.397754	0.60577	0.2696546	0.52847	-9.266	0.69394	D	.	.	0.235	0.49078	B	.;.;.;.	.;.;.;.	5.478016	0.91348	32	0.99817111299830841	0.90061	0.81348	0.40770	D	AEFDGBCI	0.461300	0.51112	N	0.12144743292192	0.47464	2.971798	0.0456702509744604	0.41862	2.522201	0.999963247579836	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.58	3.67	0.41236	1.852000	0.38988	3.185000	0.36675	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.996000	0.76049	0.0:0.9142:0.0:0.0858	11.108	0.47436	702	0.57624	Peptidase S8, pro-domain;Peptidase S8, pro-domain;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	0	0	0	0	0.04762	2059.11	35	chr15	90876318	.	C	T	2059.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.29;DP=824;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.765;SOR=0.689	GT:AD:DP:GQ:PL	0/1:33,40:73:99:1152,0,811	19	0	2	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	0/1:49,33,0,0:82:99:1207,0,1957,1354,2058,3412,1354,2058,3412,3412	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	0/1:49,33,0,0:82:99:1207,0,1957,1354,2058,3412,1354,2058,3412,3412	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	0/1:49,33,0,0:82:99:1207,0,1957,1354,2058,3412,1354,2058,3412,3412	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	0/1:31,34:65:99:792,0,837	15	0	6	0
chr16	2181251	2181251	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C2117T:p.S706L,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.823	P	.	.	0.934	D	1.7	L	-0.87	T	0.085	D	0.461	T	0.497	2.316	13.70	4.36	2.255	2.742	15.608	0.356	0.327442115516	0.0004	.	0.0008	0	0.0004	0	0	0.0010	0.0016	0.0013	0.0005757	89	154602	rs201599923	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0008	0.0008	3.003e-05	0.0006	0.0088	0	2.391e-05	0.0012	0.0003	0.0009	0.0010	0.0005	0.0005	0.0006	0.0005	0.0012	0.0004	0.0004	0.0008	0.0007	0.0001	0	0.0012	0.0084	0	0	0	0.0003	0.0019	0.0004	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.823	0.59197	P	.	.	.	.	0.93438	0.37086	D	2.835	0.82492	M	-0.87	0.74583	T	-3.52	0.68412	D	0.577	0.59901	0.085	0.83901	D	0.461	0.79083	T	9	0.015591562	0.00327	T	0.327442	0.91653	D	0.356	0.67691	.	.	0.680576452069	0.67785	0.24430633137355906	0.24344	0.908973883068	0.70969	0.688389718533	0.65474	T	0.256561	0.62749	T	-0.200054	0.20796	T	-0.126261	0.61284	T	0.0835097838006507	0.10430	T	0.836316	0.50742	T	0.41777763	0.61944	0.54894245	0.73922	0.41777763	0.61944	0.54894245	0.73923	-13.021	0.89451	D	.	.	0.529	0.65877	A	.	.	4.811163	0.78275	26.9	0.99866097324157022	0.94457	0.91095	0.52850	D	AEFBI	0.472874	0.51780	N	0.496678498786778	0.66896	5.009831	0.4667712420424	0.65802	4.869915	0.187162154472355	0.17952	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.562822	0.20929	0	.	.	4.36	4.36	0.51643	5.257000	0.65294	11.741000	0.95195	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0:0.0:1.0:0.0	15.608	0.76433	650	0.62973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1612.08	34	chr16	2181251	.	G	A	1612.08	.	AC=2;AF=0.048;AN=42;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.24;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1640,150,0	20	1	0	0
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	1/1:0,113:113:99:3575,339,0	19	1	1	0
chr16	3092545	3092545	C	T	exonic	ZSCAN10	.	nonsynonymous SNV	ZSCAN10:NM_001282416:exon2:c.G250A:p.A84T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	.	.	1.000	D	.	.	.	.	-1.060	T	0.053	T	.	0.481	6.612	-9.65	-2.247	.	3.149	0.030	0.0123704668036	.	.	9.549e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs766128760	1.758e-05	2.394e-05	1.44e-05	2.087e-05	5.471e-05	1.189e-05	1e-05	1.746e-05	1.039e-05	3.205e-05	0	0	5.471e-05	0	0	1.501e-05	1.762e-05	5.337e-05	6.572e-06	6.566e-06	0	1.345e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.855	0.02705	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.12	0.08106	T	0.1	0.05810	N	0.033	0.00882	-1.0601	0.11731	T	0.053	0.22539	T	7	0.024837166	0.00698	T	0.01237	0.30882	T	0.030	0.07022	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.253211	0.13708	T	-0.601496	0.12685	T	0.0212823264501554	0.00830	T	0.205479	0.02425	T	.	.	.	.	.	.	.	.	-5.563	0.42453	T	.	.	0.104	0.18787	B	.	.	-0.368442	0.02333	0.250	0.36813449652224989	0.02389	0.01643	0.05285	N	AEFDBHCI	0.025528	0.01761	N	-1.80760559202086	0.00527	0.02268006	-1.93318598860049	0.00420	0.01858953	0.999998318621478	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.82	-9.65	0.00450	-6.753000	0.00068	.	.	-1.763000	0.00674	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.117:0.4028:0.2393:0.2409	3.149	0.06094	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2933.08	35	chr16	3092545	.	C	T	2933.08	.	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=30.55;SOR=0.778	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2961,288,0	20	1	0	0
chr16	3589698	3589698	G	T	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon12:c.C3940A:p.Q1314K,	Fanconi anemia, complementation group P, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	341389	Fanconi_anemia|Fanconi_anemia_complementation_group_P|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.958	D	0.477	P	0.623	U	1.000	N	1.5	L	5.3	T	-0.821	T	0.006	T	0.227	2.316	13.70	6.07	2.884	2.827	16.144	0.122	0.0639836125001	7.7e-05	.	0.0003	9.636e-05	8.648e-05	0	0	0.0004	0.0011	0.0001	0.0002135	33	154602	rs142040192	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0026	2.987e-05	0.0001	0.0006	0	0	0.0043	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	7.237e-05	0	6.546e-05	0	0	0	0	0.0004	0.0005	0	0.136	0.26085	T	0.269	0.22426	T	0.958	0.54977	D	0.477	0.46994	P	0.622834	0.10761	U	0.580559	0.99988	0.19925	N	1.445	0.36358	L	5.3	0.01093	T	-0.67	0.19297	N	0.246	0.27792	-0.8209	0.53877	T	0.006	0.02206	T	10	0.098507315	0.17815	T	0.063984	0.69136	D	0.122	0.33800	.	.	0.241078983079	0.23725	0.21400031943291542	0.21316	0.0874347992655	0.09857	0.224024504423	0.01555	T	0.07126	0.34164	T	-0.451384	0.01109	T	-0.580181	0.14528	T	0.0369921701535479	0.03154	T	0.433957	0.11861	T	0.1427332	0.32834	0.08858551	0.20664	0.1427332	0.32833	0.08858551	0.20664	-3.894	0.22212	T	.	.	0.126	0.26576	B	.	.	2.029930	0.25802	16.89	0.7823442188661599	0.12213	0.66788	0.33200	D	ALL	0.200785	0.32749	N	-0.0289631156781996	0.40547	2.409814	-0.0540568249879941	0.37315	2.183185	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	6.07	6.07	0.98675	2.512000	0.45146	.	.	0.271000	0.18527	0.121000	0.23193	0.076000	0.22303	0.377000	0.26268	0.0:0.0:1.0:0.0	16.144	0.81363	587	0.69154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4978.08	79	chr16	3589698	.	G	T	4978.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.508e+00;DP=1015;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=31.91;ReadPosRankSum=1.56;SOR=0.239	GT:AD:DP:GQ:PL	1/1:1,155:156:99:5006,464,0	20	1	0	0
chr16	10472122	10472124	TGT	-	exonic	ATF7IP2	.	nonframeshift deletion	ATF7IP2:NM_024997:exon8:c.1365_1367del:p.V456del	.	.	499	979	36	8	0	52	0.0258706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00499201	0.0096	0.0018	0.0069	0.0001	0.0023	0.0119	0.0113	0.0152	0.0022284	58	26028	rs566280429	0.0090	0.0093	0.0088	0.0093	0.0263	0.0089	0.0088	0.0228	0.0215	0.0018	0.0068	0.0396	5.147e-05	0.0015	0.0263	0.0087	0.0099	0.0146	0.0078	0.0078	0.0081	0.0075	0.0129	0.0074	0.0073	0.0103	0.0095	0.0025	0.0022	0.0081	0.0415	0.0002	0.0018	0.0034	0.0104	0.0099	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4093.64	33	chr16	10472121	.	ATGT	A	4093.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.243e+00;DP=881;ExcessHet=0.3300;FS=4.933;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.57;ReadPosRankSum=-4.880e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/1:60,35:95:99:1254,0,2414	18	0	3	0
chr16	10915605	10915605	A	G	exonic	CIITA	.	nonsynonymous SNV	CIITA:NM_001286403:exon12:c.A1172G:p.K391R	Bare lymphocyte syndrome, type II, complementation group A, Autosomal recessive	.	1	1509	11	1	0	13	0.00428901	.	.	324009	MHC_class_II_deficiency	MONDO:MONDO:0008855,MedGen:C2931418,OMIM:PS209920,Orphanet:572	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.9	T	0.462	P	0.138	B	0.126	N	0.997	N	0.895	L	0.64	T	-0.867	T	0.155	T	0.141	1.264	10.12	-2.12	-0.643	0.348	5.908	0.034	.	0.0002	0.0127796	0.0074	0.0003	0.0008	0.0003	0	4.496e-05	0.0044	0.0532	0.0065329	1010	154602	rs140103491	0.0033	0.0033	0.0019	0.0047	0.0513	0.0032	0.0032	0.0501	0.0495	0.0003	6.708e-05	0	0.0002	1.873e-05	0.0016	0.0001	0.0035	0.0513	0.0021	0.0021	0.0011	0.0031	0.0628	0.0019	0.0018	0.0570	0.0547	0.0002	0	6.543e-05	0	0.0010	0	0	4.413e-05	0.0005	0.0628	0.163	0.31532	T	0.151	0.32355	T	.	.	.	.	.	.	0.125656	0.18834	N	0.482604	0.997326	0.22705	N	.	.	.	-0.78	0.73631	T	-1.04	0.27259	N	0.27	0.30800	-0.8670	0.50754	T	0.155	0.48568	T	10	0.0020398796	0.00029	T	.	.	.	0.034	0.08419	.	.	0.573511999043	0.57018	0.4218809977158536	0.42105	0.114923731027	0.12965	0.368581175804	0.20629	T	.	.	.	-0.482221	0.00718	T	-0.428209	0.30139	T	0.00630568679686327	0.00070	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	-2.522	0.05933	T	.	.	0.078	0.13174	B	.;.;.	.;.;.	1.527027	0.19596	14.34	0.9602820981138519	0.28494	0.58734	0.30722	D	AEFBCI	0.159411	0.28521	N	-1.16667540384039	0.05511	0.2514213	-1.1171993138108	0.07371	0.3583035	0.993198737492739	0.33121	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.6	-2.12	0.06766	0.258000	0.18156	.	.	-0.706000	0.03979	0.958000	0.33488	0.016000	0.20520	0.691000	0.33868	0.377:0.4529:0.1701:0.0	5.908	0.18252	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	532.98	33	chr16	10915605	.	A	G	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.120e-01;DP=744;ExcessHet=0.0000;FS=2.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=1.76;SOR=1.085	GT:AD:DP:GQ:PL	0/1:28,24:52:99:547,0,726	20	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	1/1:0,170,0:170:99:.:.:5078,507,0,5078,507,5078	2	11	4	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	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	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:89,66:180:99:337,0,1184	1	0	20	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|1:61,10:71:99:0|1:14667707_GCCCC_G:125,0,2418:14667707	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|1:61,10,0,0:71:99:0|1:14667707_GCCCC_G:125,0,2418,307,2448,2756,307,2448,2756,2756:14667707	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|1:61,10,0,0:71:99:0|1:14667707_GCCCC_G:125,0,2418,307,2448,2756,307,2448,2756,2756:14667707	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|1:61,10,0,0:71:99:0|1:14667707_GCCCC_G:125,0,2418,307,2448,2756,307,2448,2756,2756:14667707	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	1/1:0,4,0:4:12:.:.:109,12,0,109,12,109	8	2	7	3
chr16	23557328	23557328	T	C	exonic	EARS2	.	nonsynonymous SNV	EARS2:NM_001083614:exon1:c.A16G:p.R6G	Combined oxidative phosphorylation deficiency 12, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	140893	Leukoencephalopathy-thalamus_and_brainstem_anomalies-high_lactate_syndrome|EARS2-related_disorder|not_specified|not_provided	MONDO:MONDO:0013971,MedGen:C4706421,OMIM:614924,Orphanet:314051|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.022	N	1.000	N	0	N	1.2	T	-1.048	T	0.028	T	0.242	2.306	13.67	1.05	0.404	0.349	5.484	0.037	.	0.0041	0.00419329	0.0125	0.0026	0.0130	0	0.0013	0.0196	0	0.0090	0.0047477	734	154602	rs113722817	0.0073	0.0072	0.0073	0.0074	0.0114	0.0072	0.0072	0.0091	0.0083	0.0014	0.0069	0.0065	2.689e-05	0.0013	0.0114	0.0082	0.0063	0.0058	0.0049	0.0049	0.0051	0.0046	0.0080	0.0046	0.0045	0.0074	0.0072	0.0012	0	0.0055	0.0058	0	0.0004	0.0068	0.0080	0.0080	0.0044	0.023	0.48642	D	0.093	0.40426	T	0.0	0.02946	B	0.0	0.01387	B	0.021597	0.26803	N	0.381489	1	0.18198	N	0	0.06538	N	1.2	0.38556	T	-1.26	0.31778	N	0.301	0.34981	-1.0478	0.15016	T	0.028	0.11882	T	10	0.004332006	0.00088	T	.	.	.	0.037	0.09474	.	.	0.349870743963	0.34602	0.4687599814179169	0.46794	0.214983796661	0.24033	0.494522184134	0.38066	T	0.134706	0.46610	T	-0.432051	0.01441	T	-0.386423	0.34969	T	0.00631334472927374	0.00070	T	0.707729	0.31835	T	0.10470248	0.24754	0.13278492	0.31856	0.088645786	0.20686	0.1184578	0.28592	-5.099	0.38533	T	.	.	0.108	0.20313	B	.;.;.;.	.;.;.;.	1.958329	0.24878	16.56	0.87500689752274308	0.17272	0.67477	0.33447	D	AEFDGBHCI	0.043186	0.06796	N	-0.998109585377985	0.08645	0.4060867	-0.989902524221882	0.10011	0.5015554	0.999999999999847	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.99	1.05	0.19280	0.088000	0.14821	-0.032000	0.12782	0.661000	0.55757	0.000000	0.06391	0.039000	0.21534	0.072000	0.16771	0.1702:0.0:0.3526:0.4772	5.484	0.16032	309	0.87553	.;.;.;.	.	.	.	.	rs113722817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	131.98	35	chr16	23557328	.	T	C	131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.370e-01;DP=643;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.28;ReadPosRankSum=0.212;SOR=0.551	GT:AD:DP:GQ:PL	0/1:18,7:25:99:146,0,502	20	0	1	0
chr16	23690925	23690925	G	C	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon21:c.C2531G:p.A844G	.	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.955	P	0.871	P	0.000	D	1.000	D	3.165	M	1.46	T	-0.652	T	0.163	T	0.268	2.281	13.58	3.25	0.306	6.648	12.983	0.256	0.0362566802527	0.0061	0.00379393	0.0061	0.0006	0.0042	0	0.0008	0.0086	0.0033	0.0066	0.0061577	952	154602	rs56129167	0.0067	0.0067	0.0066	0.0067	0.0111	0.0066	0.0065	0.0089	0.0081	0.0013	0.0054	0.0025	5.038e-05	0.0011	0.0111	0.0076	0.0058	0.0057	0.0045	0.0045	0.0047	0.0042	0.0074	0.0042	0.0041	0.0068	0.0066	0.0012	0	0.0050	0.0037	0	0.0004	0.0068	0.0074	0.0052	0.0046	0.008	0.58626	D	0.008	0.67890	D	0.883	0.48537	P	0.696	0.54017	P	0.000008	0.62929	D	0.108387	0.999997	0.58761	D	2.56	0.74772	M	1.46	0.32238	T	-3.69	0.70432	D	0.331	0.55713	-0.6521	0.62622	T	0.163	0.49897	T	10	0.011900961	0.00258	T	0.036257	0.56875	D	0.256	0.56694	.	.	0.81614728916	0.81441	0.5763600142811136	0.57565	0.343511193933	0.36281	0.39019715786	0.23698	T	0.365229	0.73068	T	-0.460266	0.00979	T	-0.427943	0.30168	T	0.0691613059369251	0.08533	T	0.911209	0.71446	D	0.10167715	0.24019	0.25943178	0.51691	0.10167715	0.24019	0.25943178	0.51690	-11.167	0.80566	D	.	.	0.300	0.53017	B	.;.	.;.	3.287382	0.45070	22.1	0.96385354483013386	0.29634	0.99235	0.93223	D	AEFDBHCI	0.882883	0.81137	D	0.0809927769215171	0.45577	2.811882	-0.0374607007012318	0.38037	2.235413	0.99999957927638	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.465395	0.07113	1	0.711	0.71501	0	.	.	5.22	3.25	0.36363	6.815000	0.75031	5.904000	0.50927	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.1529:0.0:0.8471:0.0	12.983	0.57974	365	0.84644	KEN domain|KEN domain|PUB domain;KEN domain|KEN domain|PUB 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	1107.98	39	chr16	23690925	.	G	C	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.757;DP=795;ExcessHet=0.0000;FS=2.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=5.000e-03;SOR=0.409	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1122,0,1068	20	0	1	0
chr16	24548962	24548962	C	T	exonic	RBBP6	.	nonsynonymous SNV	RBBP6:NM_006910:exon3:c.C284T:p.A95V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.003	B	0.004	B	0.220	N	0.857	N	-0.205	N	2.62	T	-1.010	T	0.042	T	0.226	-0.761	0.786	3.0	0.406	1.934	7.599	0.022	0.00496804992221	7.7e-05	.	9.764e-05	0	0.0003	0	0	8.451e-05	0.0028	0	6.47e-05	10	154602	rs145572792	2.744e-05	3.078e-05	2.456e-05	3.034e-05	0.0005	2.068e-05	1.821e-05	0.0001	7.557e-05	2.993e-05	8.994e-05	0	0	0	0.0005	1.802e-05	0	0.0001	2.629e-05	2.627e-05	2.571e-05	2.69e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.412e-05	0	0	0.298	0.14595	T	0.827	0.05327	T	0.0	0.11197	B	0.0	0.10090	B	0.220293	0.16154	N	0.635133	0.857406	0.28407	N	-0.145	0.04423	N	1.03	0.43279	T	0.24	0.14978	N	0.099	0.08088	-1.0102	0.26854	T	0.042	0.18035	T	10	0.028746516	0.01005	T	0.004968	0.12535	T	0.022	0.04323	.	.	0.15499578495	0.15088	0.23505639637972725	0.23420	0.808132428717	0.66601	0.358046412468	0.19101	T	0.001	0.26823	T	-0.370954	0.03546	T	-0.544925	0.17815	T	0.00863358799659611	0.00106	T	0.633837	0.26583	T	0.02123723	0.00716	0.03400295	0.02391	0.02123723	0.00716	0.03400295	0.02390	-3.535	0.19673	T	.	.	0.061	0.04316	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.263825	0.28933	17.96	0.53878930631816924	0.05026	0.26788	0.23093	N	AEFGBI	0.037075	0.05041	N	-0.920487014926032	0.10364	0.4948785	-0.680080412625064	0.17459	0.9284608	0.999974828294402	0.50053	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	3.0	0.33773	1.920000	0.39655	5.095000	0.47387	-1.100000	0.01511	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1241:0.0753:0.0:0.8007	7.599	0.27233	465	0.78421	.;.;.;.;.;.;.	.	.	.	.	.	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	1200.98	41	chr16	24548962	.	C	T	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=1.82;SOR=0.718	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1215,0,1423	20	0	1	0
chr16	27363679	27363679	G	A	exonic	IL4R	.	nonsynonymous SNV	IL4R:NM_001257406:exon10:c.G2327A:p.C776Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.009	B	0.003	B	0.001	N	1.000	N	0	N	3.06	T	-0.965	T	0.011	T	0.156	1.085	9.428	-4.05	-0.564	-1.943	1.638	0.048	0.00267536073436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.132	0.34477	T	0.009	0.15093	B	0.003	0.08700	B	0.001024	0.00727	N	3.532640	1	0.08975	N	0.345	0.11182	N	3.06	0.08634	T	-1.2	0.30555	N	0.084	0.06990	-0.9652	0.38171	T	0.011	0.04274	T	10	0.04179746	0.02868	T	0.002675	0.05463	T	0.048	0.13305	0.14	0.04369	0.119812018005	0.11559	0.05812819747927824	0.05753	0.249488963526	0.27528	0.299871504307	0.10382	T	0.071865	0.34312	T	-0.314577	0.07351	T	-0.689644	0.06410	T	0.0875999291916613	0.10931	T	0.387561	0.09552	T	0.054364152	0.10421	0.06864598	0.14364	0.054364152	0.10421	0.06864598	0.14364	-5.234	0.39285	T	0.11488501619721625	0.10216	0.090	0.14477	B	.;.;.	.;.;.	-0.986457	0.00790	0.026	0.46012673931490849	0.03654	0.02201	0.06424	N	AEFBCI	0.025778	0.01823	N	-1.61181419131981	0.01206	0.05246171	-1.64390945537551	0.01408	0.06363113	0.999922201023646	0.46280	0.743674	0.98306	0	0.702456	0.74545	0	0.630245	0.45026	0	0.711	0.71501	0	.	.	4.73	-4.05	0.03730	-1.886000	0.01710	-0.944000	0.06837	-1.056000	0.01626	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.126:0.288:0.3311:0.2549	1.638	0.02580	906	0.23090	.;.;.	.	.	.	.	.	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	1455.98	36	chr16	27363679	.	G	A	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.890e+00;DP=970;ExcessHet=0.0000;FS=1.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-2.026e+00;SOR=0.558	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1470,0,1945	20	0	1	0
chr16	28836352	28836352	C	T	exonic	ATXN2L	.	nonsynonymous SNV	ATXN2L:NM_148414:exon23:c.C3166T:p.R1056C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.0	B	0.063	N	1.000	D	.	.	0.79	T	-1.029	T	0.086	T	0.199	1.708	11.67	2.99	1.379	1.954	6.280	0.152	0.193664168697	.	.	8.372e-06	0	0	0	0	0	0	6.244e-05	1.29e-05	2	154602	rs371371679	5.475e-06	6.156e-06	0	1.101e-05	2.238e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.238e-05	0	0	0	0	5.397e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.083	0.41405	T	0.001	0.07471	B	0.0	0.01387	B	0.063001	0.22056	N	0.328529	0.853234	0.81001	D	.	.	.	0.79	0.49068	T	-0.62	0.18248	N	0.363	0.40465	-1.0287	0.20876	T	0.086	0.33578	T	9	0.11948708	0.22612	T	0.193664	0.86317	D	0.152	0.39956	0.178	0.08503	0.143184338766	0.13958	0.15584057251368172	0.15505	0.453934619371	0.45076	0.786255657673	0.79873	T	.	.	.	-0.23681	0.15759	T	-0.477307	0.24733	T	0.805246889591217	0.46714	D	0.728227	0.34274	T	.	.	.	.	.	.	.	.	-3.875	0.21928	T	.	.	0.483	0.63816	A	.	.	2.316654	0.29664	18.19	0.99598946261440147	0.74101	0.54440	0.29616	D	AEFDBHCI	0.173163	0.30023	N	-0.165848597331413	0.34563	1.974292	-0.0321579766992102	0.38272	2.252416	0.714734372951225	0.22861	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.06	2.99	0.33673	2.690000	0.46668	5.819000	0.50068	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7796:0.0:0.2204	6.280	0.20213	311	0.87433	.	.	.	.	.	.	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	108.98	37	chr16	28836352	.	C	T	108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.643e+00;DP=835;ExcessHet=0.0000;FS=70.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=1.22;SOR=6.183	GT:AD:DP:GQ:PL	0/1:66,21:87:99:123,0,1458	20	0	1	0
chr16	29806843	29806843	C	T	exonic	MAZ	.	nonsynonymous SNV	MAZ:NM_001042539:exon1:c.C142T:p.L48F	.	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.997	D	0.972	D	0.021	U	1.000	D	0	N	2.97	T	-0.979	T	0.040	T	0.254	2.688	14.95	2.44	1.105	0.215	8.628	0.069	0.182777347137	.	.	8.861e-06	0	0	0	0	1.627e-05	0	0	6.5e-06	1	154602	rs746668933	1.453e-05	2.121e-05	1.977e-05	9.227e-06	1.649e-05	9.29e-06	7.49e-06	1.004e-05	8.21e-06	0	0	0	0	0	0	1.649e-05	3.884e-05	0	6.754e-06	1.316e-05	0	1.386e-05	2.436e-05	0	0	.	.	2.436e-05	0	0	0	0	0	0	0	0	0	0.01	0.91255	D	0.073	0.92824	T	0.994	0.66517	D	0.931	0.66596	D	0.020792	0.01539	U	15.684000	0.543174	0.34348	D	0	0.06538	N	2.97	0.10482	T	0.79	0.68178	N	0.26	0.39861	-0.9789	0.35254	T	0.040	0.17319	T	10	0.11615363	0.21903	T	0.182777	0.85642	D	0.069	0.20116	0.189	0.09907	0.182106788282	0.17826	0.148482199271661	0.14770	0.0132338804341	0.01271	0.868602931499	0.92368	D	0.11078	0.42575	T	-0.234965	0.15996	T	-0.52345	0.19946	T	0.427674293518066	0.29974	T	0.765423	0.39305	T	0.07385236	0.16532	0.08014302	0.18103	0.07385236	0.16532	0.08014302	0.18103	-4.523	0.32806	T	.	.	0.685	0.86689	P	.;.;.;.;.;.	.;.;.;.;.;.	3.135304	0.42385	21.5	0.99232916901686941	0.56278	0.23428	0.22073	N	ALL	0.144482	0.26746	N	-0.159052227721518	0.34852	1.99454	-0.239780544342796	0.30125	1.69352	0.999999999999092	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.504199	0.09095	0	0.621717	0.48901	0	.	.	2.44	2.44	0.28875	0.150000	0.16082	6.512000	0.55810	0.152000	0.17698	0.081000	0.22364	1.000000	0.68203	0.859000	0.40722	0.0:1.0:0.0:0.0	8.628	0.33063	280	0.88949	.;.;.;.;.;.	.	.	.	.	.	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	370.98	33	chr16	29806843	.	C	T	370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.709;DP=749;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.197;SOR=0.864	GT:AD:DP:GQ:PL	0/1:29,18:47:99:385,0,653	20	0	1	0
chr16	31360327	31360327	C	G	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725G:p.A242G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.066	B	0.017	B	.	.	1.000	N	1.59	L	-1.67	D	-0.634	T	0.401	T	0.139	1.112	9.536	2.6	1.320	0.319	9.258	0.101	0.0292488694906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.21144	T	0.139	0.33666	T	0.066	0.23586	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.67	0.82806	D	-1.69	0.40274	N	0.088	0.09207	-0.6345	0.63380	T	0.401	0.75252	T	9	0.10642916	0.19721	T	0.029249	0.51792	D	0.101	0.28911	0.418	0.45873	0.631602580773	0.62858	0.580785584084518	0.58007	0.215413561457	0.24069	0.279822796583	0.07467	T	0.211377	0.57213	T	-0.102727	0.35974	T	-0.385336	0.35098	T	0.0759893885118709	0.09467	T	0.432057	0.11757	T	0.32753953	0.55269	0.21408725	0.45945	0.32753953	0.55269	0.21408725	0.45944	-5.329	0.40229	T	.	.	0.111	0.23430	B	.;.	.;.	1.367027	0.17764	13.36	0.90572996767062097	0.19827	0.16201	0.19278	N	AEFDBI	0.108268	0.21544	N	-0.724559140907063	0.15332	0.7717987	-0.765275220444868	0.15348	0.8067251	0.999857510691531	0.44174	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.73	2.6	0.30173	0.727000	0.25667	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.162:0.6806:0.1574:0.0	9.258	0.36757	287	0.88635	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	0.08824	87.54	43	chr16	31360327	.	C	G	87.54	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.288e+00;DP=930;ExcessHet=0.3300;FS=312.897;InbreedingCoeff=-0.1554;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=-4.310e-01;SOR=9.289	GT:AD:DP:GQ:PL	0/1:20,11:35:21:21,0,326	14	0	3	4
chr16	32253604	32253604	C	A	exonic	TP53TG3D	.	nonsynonymous SNV	TP53TG3D:NM_001243722:exon1:c.C251A:p.T84N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00523611580767	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246807324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.38	0.34050	T	-3.5	0.68178	D	0.09	0.06854	.	.	.	.	.	.	.	0.14317742	0.27187	T	0.005236	0.13341	T	.	.	.	.	0.143184338766	0.13958	0.001598307572914942	0.00147	2.49876639053	0.97613	0.545498967171	0.45222	T	.	.	.	-0.440714	0.01281	T	-0.720539	0.04769	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.553230	0.19905	14.49	0.59800606792481914	0.06310	0.00534	0.02469	N	AEFDBCI	0.036559	0.04890	N	.	.	.	.	.	.	0.00886385683440265	0.11755	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.253	-0.507	0.11386	0.173000	0.16538	-3.375000	0.02835	0.191000	0.17858	0.060000	0.21767	0.000000	0.08366	0.060000	0.15972	.	.	.	721	0.55360	.	.	.	.	.	.	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	965.02	34	chr16	32253604	.	C	A	965.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=35.45;MQRankSum=-1.177e+00;QD=5.27;ReadPosRankSum=-8.140e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/1:130,53:183:99:979,0,3193	20	0	1	0
chr16	50354816	50354816	G	A	exonic	BRD7	.	nonsynonymous SNV	BRD7:NM_001173984:exon3:c.C365T:p.T122I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.045	B	0.067	B	0.145	N	0.994	N	1.5	L	2.2	T	-1.045	T	0.048	T	0.137	2.179	13.24	4.79	1.427	2.814	9.578	0.035	0.00471649051731	7.7e-05	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs144462361	1.233e-05	1.231e-05	6.816e-06	1.79e-05	0.0002	7.71e-06	6.36e-06	8.896e-05	7.061e-05	0	0	0	0	0	0	3.598e-06	1.661e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43708	D	0.127	0.35082	T	0.026	0.21781	B	0.03	0.27542	B	0.144624	0.18172	N	0.599175	0.993687	0.23667	N	1.59	0.40313	L	2.2	0.18570	T	-1.17	0.29933	N	0.19	0.24634	-1.0447	0.15913	T	0.048	0.20553	T	10	0.063076794	0.08163	T	0.004716	0.11722	T	0.035	0.08770	.	.	0.182106788282	0.17826	0.3240848259367409	0.32321	0.15899387495	0.17942	0.370338976383	0.20881	T	0.077288	0.35619	T	-0.416674	0.01797	T	-0.576621	0.14848	T	0.110127635300159	0.13437	T	0.861414	0.55526	D	0.08296541	0.19138	0.06925609	0.14568	0.08296541	0.19137	0.06925609	0.14567	-4.039	0.24385	T	.	.	0.105	0.19276	B	.;.	.;.	3.494013	0.48848	22.7	0.99577107569731271	0.72742	0.53383	0.29358	D	AEFGBCI	0.181664	0.30898	N	-0.24238778265595	0.31407	1.760821	-0.123691941922398	0.34437	1.980908	0.99992522821679	0.46280	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.691587	0.68394	0	.	.	5.74	4.79	0.60909	2.602000	0.45921	5.867000	0.50493	0.672000	0.70159	0.138000	0.23473	0.996000	0.32793	1.000000	0.97212	0.071:0.0:0.7877:0.1413	9.578	0.38632	556	0.71678	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	928.02	35	chr16	50354816	.	G	A	928.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.560e-01;DP=807;ExcessHet=0.0000;FS=1.873;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-9.950e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/1:36,38:74:99:942,0,900	20	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.68	T	-1.008	T	0.075	T	0.027	-0.551	1.503	-2.28	-0.568	-0.033	2.621	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	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	0.1429	1574.94	129	chr16	50669118	.	A	G	1574.94	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.087e+00;DP=2354;ExcessHet=1.7912;FS=129.128;InbreedingCoeff=-0.1838;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=0.663;SOR=9.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,15:133:21:0|1:50669118_A_G:21,0,4205:50669118	15	0	6	0
chr16	55810597	55810597	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon11:c.A1235G:p.K412R	Carboxylesterase 1 deficiency (3)	.	0	1521	1	0	0	1	0.000328623	.	.	3293316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.003	B	0.015	B	0.006	N	0.972	N	0.81	L	-0.33	T	-1.018	T	0.135	T	0.15	1.655	11.49	1.11	0.171	0.527	3.688	0.028	0.0168709245548	.	.	6.589e-05	0	0	0.0002	0	7.492e-05	0	6.056e-05	6.47e-05	10	154602	rs776903994	6.02e-05	6.02e-05	5.989e-05	6.05e-05	0.0003	4.961e-05	4.626e-05	9.791e-05	7.838e-05	0	0	0	0.0001	1.872e-05	0.0003	5.396e-05	0.0001	0.0002	6.571e-05	6.566e-05	7.708e-05	5.38e-05	0.0002	3.517e-05	2.616e-05	6.803e-05	5.087e-05	0	0	0	0	0.0002	0	0	0.0001	0	0	0.173	0.22573	T	0.258	0.28669	T	0.001	0.11197	B	0.009	0.17295	B	0.005662	0.32605	N	0.267834	0.972454	0.25600	N	0.255	0.09829	N	-0.33	0.68329	T	-1.7	0.40468	N	0.18	0.19995	-1.0175	0.24528	T	0.135	0.44933	T	10	0.1012007	0.18476	T	0.016871	0.38326	T	0.028	0.06331	.	.	0.543910352347	0.54045	0.1484405005793061	0.14766	0.0246498814523	0.02506	0.293488740921	0.09433	T	0.032348	0.48469	T	-0.335177	0.05730	T	-0.454807	0.27168	T	0.0158405529939267	0.00371	T	0.705629	0.35599	T	0.27089873	0.50161	0.19777122	0.43576	0.27089873	0.50160	0.19777122	0.43575	-3.917	0.23759	T	0.2261652758075441	0.30564	0.082	0.08899	B	.;.;.;.	.;.;.;.	1.282996	0.16827	12.79	0.99035719073005257	0.50895	0.27643	0.23335	N	AEBI	0.424320	0.48954	N	-0.730118525393465	0.15179	0.7627105	-0.675017966408331	0.17586	0.9357868	0.00275886722076499	0.09683	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.69	1.11	0.19640	0.381000	0.20348	-3.782000	0.02540	0.643000	0.52288	0.142000	0.23535	0.000000	0.08366	0.973000	0.55318	0.0:0.2043:0.1918:0.6039	3.688	0.07869	928	0.17405	.;.;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	998.98	33	chr16	55810597	.	T	C	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.813;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-1.080e-01;SOR=0.688	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1013,0,830	20	0	1	0
chr16	58403263	58403263	G	A	exonic	GINS3	.	nonsynonymous SNV	GINS3:NM_022770:exon2:c.G352A:p.G118R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	1.0	D	0.997	D	0.000	D	1.000	D	0.78	N	2.34	T	-1.132	T	0.075	T	0.778	3.971	20.3	5.86	2.937	6.150	19.551	0.192	0.0294674584139	0.0008	0.000399361	0.0004	0.0002	0.0002	0	0	0.0006	0.0011	0	0.0003687	57	154602	rs148150477	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0007	0.0006	2.987e-05	0.0002	0	0	0	0	0.0007	0.0004	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0	0	0	0.0006	0	0	0.141	0.25560	T	0.223	0.25670	T	0.985	0.61118	D	0.317	0.41633	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.085	0.27262	L	2.34	0.16351	T	-0.91	0.24460	N	0.414	0.45426	-1.1318	0.01698	T	0.075	0.30179	T	10	0.091691375	0.16084	T	0.029467	0.51971	D	0.192	0.47115	0.554	0.67133	0.250579442822	0.24687	0.7904237355566981	0.78994	0.405184930583	0.41409	0.713505506516	0.69101	T	0.024439	0.18465	T	-0.226468	0.17117	T	-0.196639	0.54965	T	0.0529470582550342	0.06009	T	0.918208	0.70605	D	0.6142513	0.73456	0.39989963	0.64541	0.6142513	0.73457	0.39989963	0.64541	-1.455	0.01674	T	.	.	0.361	0.57305	A	.;.	.;.	3.956664	0.58003	23.9	0.99862740480059176	0.94093	0.97971	0.78532	D	AEFBI	0.777259	0.71012	D	0.480161013294722	0.65932	4.885204	0.567976467320301	0.72657	5.844538	0.999999999999966	0.74766	0.758104	0.99027	0	0.724815	0.89359	0	0.709663	0.75317	0	0.665031	0.64506	0	.	.	5.86	5.86	0.93936	6.232000	0.72264	6.650000	0.56213	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.551	0.95311	866	0.32446	GINS subunit, domain A;GINS subunit, domain A	.	.	.	.	.	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	1365.98	33	chr16	58403263	.	G	A	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.503;DP=793;ExcessHet=0.0000;FS=3.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.921e+00;SOR=0.400	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1380,0,1392	20	0	1	0
chr16	67649600	67649600	C	G	exonic	CARMIL2	.	nonsynonymous SNV	CARMIL2:NM_001013838:exon20:c.C1900G:p.R634G	.	.	.	.	.	.	.	.	.	.	.	1384906	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.835	P	0.274	B	0.005	N	0.732	N	0.895	L	0.86	T	-0.973	T	0.061	T	0.467	2.475	14.23	4.11	1.108	2.110	8.927	0.084	0.0149965868522	.	0.000798722	0.0002	0.0018	0.0002	0	0	0	0	0	0.0001294	20	154602	rs201500298	5.732e-05	5.541e-05	5.842e-05	5.621e-05	0.0020	4.689e-05	4.344e-05	0.0016	0.0014	0.0020	7.048e-05	0	0	0	0.0002	1.854e-06	0.0002	1.169e-05	0.0003	0.0003	0.0005	0.0002	0.0012	0.0003	0.0002	0.0010	0.0009	0.0012	0	0.0001	0	0	0	0	0	0	0	0.021	0.50132	D	0.02	0.59732	D	0.016	0.17332	B	0.005	0.11217	B	0.005013	0.33181	N	0.277445	0.78653	0.29822	N	.	.	.	0.86	0.46777	T	-3.97	0.73684	D	0.313	0.35301	-0.9733	0.36496	T	0.061	0.25635	T	10	0.021226525	0.00504	T	0.014997	0.35474	T	0.084	0.24469	.	.	0.344251166708	0.34027	0.6170914291753081	0.61641	1.15342620932	0.79294	0.353585422039	0.18449	T	0.319288	0.69059	T	-0.379401	0.03143	T	-0.342387	0.40074	T	0.0841879625858921	0.10514	T	0.606339	0.29175	T	0.40946925	0.61382	0.22517768	0.47454	0.40946925	0.61383	0.22517768	0.47453	-5.054	0.38002	T	0.2306740502528228	0.31213	0.169	0.37198	B	.;.	.;.	3.729525	0.53338	23.4	0.99345898515015696	0.60371	0.90803	0.52290	D	AEFDBI	0.546635	0.56066	D	-0.0709832661320852	0.38669	2.268372	0.0360307445611457	0.41401	2.486705	0.999997442847632	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.63947	0.58350	0	.	.	5.09	4.11	0.47350	2.696000	0.46719	2.201000	0.31287	0.599000	0.40250	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.15:0.7709:0.0:0.079	8.927	0.34808	45	0.97767	.;.	.	.	.	.	.	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	868.98	33	chr16	67649600	.	C	G	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=769;ExcessHet=0.0000;FS=2.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.246;SOR=0.446	GT:AD:DP:GQ:PL	0/1:28,33:61:99:883,0,632	20	0	1	0
chr16	67842902	67842902	-	CAGCAGCAGCAGCAGCAACAGCAGCAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.348_349insCAGCAGCAGCAGCAGCAACAGCAGCAG:p.Q132_S133insQQQQQQQQQ,	.	.	0	219	4	0	3	7	0.00904977	.	.	1544425	THAP11-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0005	0.0028	0.0046	0.0006	0.0017	0.0037	0.0055	0.0001153	3	26028	.	0.0017	0.0038	0.0016	0.0018	0.0054	0.0016	0.0016	0.0050	0.0048	0.0009	0.0012	0.0005	0.0043	0.0010	0.0025	0.0014	0.0016	0.0054	0.0026	0.0026	0.0025	0.0026	0.0063	0.0023	0.0023	0.0044	0.0038	0.0017	0	0.0019	0.0003	0.0057	0.0011	0.0035	0.0031	0.0034	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1445.05	34	chr16	67842902	.	A	ACAGCAGCAGCAGCAGCAACAGCAGCAG,AGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	1445.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.798;DP=823;ExcessHet=0.1072;FS=1.964;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.43;MQRankSum=0.00;QD=18.53;ReadPosRankSum=0.891;SOR=0.957	GT:AD:DP:GQ:PL	0/1:22,26,0:48:99:839,0,768,910,845,1755	19	0	1	0
chr16	67842902	67842902	-	GCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	exonic	THAP11	.	frameshift insertion	THAP11:NM_020457:exon1:c.348_349insGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG:p.Q117Afs*137,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1445.05	34	chr16	67842902	.	A	ACAGCAGCAGCAGCAGCAACAGCAGCAG,AGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	1445.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.798;DP=823;ExcessHet=0.1072;FS=1.964;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.43;MQRankSum=0.00;QD=18.53;ReadPosRankSum=0.891;SOR=0.957	GT:AD:DP:GQ:PL	0/1:22,26,0:48:99:839,0,768,910,845,1755	19	0	1	0
chr16	68822084	68822084	A	G	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon11:c.A1612G:p.T538A	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	0	1521	1	0	0	1	0.000328623	.	.	1457324	Hereditary_diffuse_gastric_adenocarcinoma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.01	B	0.456	N	1.000	N	0.77	N	0.14	T	-0.979	T	0.130	T	0.196	-0.531	1.584	4.21	0.832	-0.083	2.515	0.134	0.0317840558297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.28271	T	0.235	0.24767	T	0.001	0.07471	B	0.002	0.06944	B	0.456499	0.04844	N	1.348280	1	0.08975	N	1.1	0.28011	L	0.14	0.60854	T	-0.44	0.14588	N	0.035	0.27792	-0.9786	0.35322	T	0.130	0.43907	T	10	0.09063172	0.15805	T	0.031784	0.53784	D	0.134	0.36365	0.486	0.56939	0.804625370448	0.80279	0.24054157842991092	0.23968	0.247179053754	0.27258	0.288926303387	0.08766	T	0.359687	0.72605	T	-0.163802	0.26177	T	-0.473067	0.25186	T	0.0457077611768035	0.04731	T	0.0435956	0.00345	T	0.03553879	0.04203	0.035239056	0.02738	0.03553879	0.04202	0.035239056	0.02738	-6.659	0.51501	T	0.08171985185264466	0.04247	0.067	0.03026	B	.;.;.;.;.	.;.;.;.;.	0.090106	0.04941	1.511	0.76694514987543927	0.11572	0.05811	0.11749	N	AEFBI	0.167444	0.29411	N	-0.827891977258328	0.12601	0.6152212	-0.808809796583138	0.14283	0.7454593	0.999955536616111	0.48110	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.34	4.21	0.48984	0.072000	0.14482	2.284000	0.31916	0.743000	0.86499	0.000000	0.06391	0.001000	0.17328	0.031000	0.13245	0.4789:0.298:0.0796:0.1435	2.515	0.04382	334	0.86273	.;.;.;.;.	.	.	.	.	.	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	1749.98	33	chr16	68822084	.	A	G	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=826;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-2.600e-02;SOR=0.787	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1764,0,1570	20	0	1	0
chr16	68828263	68828263	G	A	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2071A:p.V691I	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	150609	not_provided|Hereditary_diffuse_gastric_adenocarcinoma|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified	MedGen:C3661900|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.971	D	0.591	P	0.001	D	0.946	N	-0.505	N	-1.04	T	-0.761	T	0.190	T	0.126	1.641	11.45	2.76	0.458	1.111	11.276	0.228	0.0140434405786	.	.	8.237e-06	9.615e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs587781351	1.026e-05	1.026e-05	1.089e-05	9.626e-06	0.0002	6.16e-06	4.89e-06	0.0001	8.675e-05	0.0002	0	0	0	0	0	8.993e-07	8.279e-05	1.159e-05	3.283e-05	3.281e-05	3.854e-05	2.686e-05	9.622e-05	1.26e-05	7.98e-06	3.242e-05	1.91e-05	9.622e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.971	0.57185	D	0.591	0.50479	P	0.000539	0.43581	D	0.000000	0.966766	0.26644	N	-0.13	0.04535	N	-1.04	0.76561	T	-0.08	0.08187	N	0.181	0.19995	-0.7615	0.57324	T	0.190	0.54183	T	10	0.18117097	0.33336	T	0.014043	0.33885	T	0.228	0.52768	0.556	0.67409	0.72085163809	0.71839	0.71783546990474	0.71726	0.272877571369	0.29797	0.6313996315	0.57344	T	0.16855	0.51560	T	-0.25607	0.13365	T	-0.424075	0.30608	T	0.2069177846103	0.20791	T	0.79532	0.51368	T	0.04889869	0.08596	0.044841737	0.05900	0.04889869	0.08596	0.044841737	0.05899	-6.813	0.56031	T	0.12841883047636451	0.13296	0.081	0.09578	B	.;.;.	.;.;.	3.045533	0.40845	21.2	0.98283596933481809	0.39879	0.39717	0.26275	N	AEFBCI	0.206247	0.33253	N	-0.405762416083499	0.25266	1.370309	-0.362474441919875	0.26126	1.441073	0.0208018724913799	0.13292	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.77	2.76	0.31527	1.958000	0.40027	5.758000	0.49667	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.982000	0.59238	0.2007:0.0:0.7993:0.0	11.276	0.48399	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic 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	2031.98	37	chr16	68828263	.	G	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=962;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-1.450e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/1:73,81:154:99:2046,0,1645	20	0	1	0
chr16	68927998	68927998	C	G	exonic	TANGO6	.	nonsynonymous SNV	TANGO6:NM_024562:exon13:c.C2558G:p.T853R,	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.952	D	0.001	D	0.997	D	1.995	M	-0.24	T	-0.535	T	0.144	T	0.331	3.884	19.74	4.41	2.512	0.900	11.035	0.233	.	0.0109	0.00838658	0.0034	0.0359	0.0027	0.0001	0	0.0001	0.0028	0	0.0025744	398	154602	rs61730958	0.0011	0.0011	0.0012	0.0010	0.0378	0.0011	0.0010	0.0361	0.0354	0.0378	0.0018	0	0	0	0.0023	8.01e-05	0.0025	0.0002	0.0094	0.0094	0.0095	0.0091	0.0325	0.0089	0.0088	0.0310	0.0304	0.0325	0	0.0035	0	0	0	0	8.82e-05	0.0071	0	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.952	0.69102	D	0.000551	0.43413	D	0.259480	0.996802	0.43428	D	2.76	0.80626	M	-0.24	0.66834	T	-3.86	0.72471	D	0.656	0.66615	-0.5349	0.67356	T	0.144	0.46587	T	10	0.012568265	0.00270	T	.	.	.	0.233	0.53499	.	.	0.62009270483	0.61701	0.68624563950522	0.68564	0.466506225267	0.46054	0.372905313969	0.21248	T	0.20785	0.56761	T	-0.357897	0.04250	T	-0.261804	0.48644	T	0.0361429466646185	0.03006	T	0.843516	0.52087	T	0.6143235	0.73460	0.6081901	0.77215	0.6143235	0.73461	0.6081901	0.77216	-14.961	0.95760	D	.	.	0.119	0.24566	B	.	.	2.813876	0.37048	20.4	0.99484599387080819	0.67069	0.32816	0.24677	N	AEFBI	0.063186	0.12192	N	0.386529461759474	0.60690	4.260889	0.301172144026919	0.55609	3.72377	0.141455943513219	0.17280	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	4.41	0.52588	1.298000	0.33017	2.549000	0.33255	0.581000	0.30040	0.001000	0.13787	0.738000	0.26462	0.973000	0.55318	0.0:0.858:0.0:0.142	11.035	0.47014	304	0.87780	RNA polymerase II assembly factor Rtp1, 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	0.02381	924.98	34	chr16	68927998	.	C	G	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.559;DP=816;ExcessHet=0.0000;FS=12.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.19;ReadPosRankSum=-1.012e+00;SOR=1.802	GT:AD:DP:GQ:PL	0/1:75,38:113:99:939,0,2050	20	0	1	0
chr16	69119798	69119798	G	C	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.C631G:p.P211A	.	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.003	B	0.042	N	1.000	N	.	.	1.92	T	-1.052	T	0.028	T	0.092	0.982	9.008	-0.357	0.248	1.343	2.114	0.028	.	.	0.00419329	0.0115	0.0018	0.0053	0	0.125	0.0056	0.0076	0.0153	0.0015394	238	154602	rs185866245	0.0043	0.0038	0.0035	0.0050	0.0134	0.0042	0.0041	0.0127	0.0124	0.0005	0.0021	0.0028	0	0.0063	0.0043	0.0034	0.0034	0.0134	0.0027	0.0027	0.0025	0.0029	0.0124	0.0025	0.0024	0.0099	0.0090	0.0004	0	0.0038	0.0032	0	0.0041	0.0035	0.0032	0.0019	0.0124	0.0	0.91255	D	0.373	0.16328	T	0.001	0.07471	B	0.003	0.08700	B	0.041520	0.23942	N	0.299706	0.999993	0.58761	D	.	.	.	1.92	0.23082	T	0.14	0.05405	N	0.246	0.27792	-1.0519	0.13872	T	0.028	0.12147	T	9	0.0026232302	0.00040	T	.	.	.	0.028	0.06331	.	.	0.247872288689	0.24386	0.0850487383074622	0.08438	.	.	0.483097851276	0.36483	T	0.015917	0.13255	T	-0.581976	0.00187	T	-0.597068	0.13057	T	0.0214830953862535	0.00852	T	0.445855	0.12478	T	0.050773207	0.09225	0.05342995	0.08997	0.050773207	0.09224	0.05342995	0.08996	-5.831	0.44844	T	.	.	0.079	0.07177	B	.	.	2.220679	0.28336	17.76	0.90590718042576435	0.19844	0.32714	0.24653	N	AEFDBCI	0.080978	0.16379	N	-0.463881499344363	0.23272	1.248528	-0.392717760883038	0.25212	1.385206	0.0372603808181577	0.14287	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-0.357	0.11953	1.121000	0.30897	2.798000	0.34835	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.974000	0.55675	0.1664:0.2872:0.3989:0.1476	2.114	0.03483	202	0.92131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6341.9	34	chr16	69119798	.	G	C	6341.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.610e-01;DP=981;ExcessHet=0.0082;FS=0.920;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=59.96;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.900;SOR=0.637	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1159,0,1114	18	1	2	0
chr16	70120596	70120596	G	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322117:exon3:c.G104T:p.R35L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.009	B	0.015	B	0.941	N	1.000	N	0	N	-0.47	T	-1.023	T	0.128	T	0.142	-0.033	3.846	-1.64	-0.158	0.557	5.189	0.042	0.0152657655964	.	.	6.629e-05	0	0	0	0.0006	5.999e-05	0	0	3.84e-05	1	26028	rs745759217	4.955e-05	0.0018	5.754e-05	4.149e-05	6.341e-05	4.017e-05	3.692e-05	5.111e-05	4.687e-05	0	0	0	0	0	0	6.341e-05	3.328e-05	0	1.978e-05	0.0009	2.579e-05	1.349e-05	1.477e-05	5.26e-06	2.46e-06	.	.	0	0	0	0	0	0.0002	0	1.477e-05	0	0	0.416	0.09958	T	0.578	0.08565	T	0.009	0.15093	B	0.015	0.17295	B	0.940547	0.08357	N	0.972503	1	0.18198	N	0	0.06538	N	-0.47	0.70133	T	-0.17	0.09627	N	0.125	0.11769	-1.0234	0.22606	T	0.128	0.43585	T	10	0.04269439	0.03043	T	0.015266	0.35904	T	0.042	0.11227	.	.	0.218112801441	0.21410	0.258975416307323	0.25811	0.555731023393	0.52264	0.31756272912	0.13051	T	0.005222	0.04667	T	-0.182616	0.23347	T	-0.500092	0.22338	T	0.0145011785517235	0.00295	T	0.593441	0.21910	T	0.03477801	0.03967	0.029928848	0.01387	0.03477801	0.03967	0.029928848	0.01387	-3.234	0.12901	T	.	.	0.105	0.19235	B	.;.	.;.	0.164631	0.05545	2.005	0.15222067162141983	0.00364	0.05037	0.10822	N	AEFDBI	0.087500	0.17741	N	-1.3825091507911	0.02802	0.1242519	-1.39904425459602	0.03262	0.1518285	5.97899955856435E-4	0.07414	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.567339	0.31927	0	.	.	4.13	-1.64	0.07874	0.224000	0.17520	1.990000	0.30074	-0.303000	0.06174	0.000000	0.06391	0.375000	0.24588	0.003000	0.05239	0.5506:0.2803:0.1691:0.0	5.189	0.14526	230	0.91032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	38.12	39	chr16	70120596	.	G	T	38.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=1507;ExcessHet=0.1072;FS=6.172;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=56.39;MQRankSum=-8.025e+00;QD=0.13;ReadPosRankSum=-1.056e+00;SOR=1.294	GT:AD:DP:GQ:PL	0/1:116,14:130:21:21,0,3218	19	0	2	0
chr16	70128846	70128846	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon3:c.C124T:p.R42C	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.455	M	-1.71	D	0.772	D	0.773	D	0.788	3.705	18.82	4.37	1.971	5.371	14.045	0.897	0.118915447535	0.0030	.	0.0052	0.0012	0.0022	0	0.0039	0.0082	0	0.0007	0.0003074	8	26028	rs199978223	0.0029	0.0088	0.0029	0.0029	0.0035	0.0028	0.0028	0.0034	0.0034	0.0006	0.0010	0.0012	5.039e-05	0.0015	0.0026	0.0035	0.0025	0.0003	0.0025	0.0055	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0009	0	0.0021	0.0020	0	0.0024	0.0034	0.0040	0.0038	0.0008	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	3.425	0.91960	M	-1.71	0.83157	D	-6.77	0.92782	D	0.907	0.94904	0.772	0.94060	D	0.773	0.92279	D	10	0.13158509	0.25043	T	0.118915	0.79908	D	0.897	0.97097	.	.	0.953785314089	0.95329	0.881366352675146	0.88104	1.52708143552	0.87520	0.732797145844	0.71915	T	0.449152	0.84137	T	0.292995	0.82400	D	0.183091	0.82174	D	0.10227920114994	0.12607	T	0.957504	0.83996	D	0.94084775	0.95333	0.7894737	0.87613	0.94084775	0.95334	0.7894737	0.87614	-9.945	0.73582	D	.	.	0.846	0.80063	P	.;.;.	.;.;.	5.834438	0.93752	33	0.99934935317314788	0.99579	0.95877	0.66538	D	AEFGBI	0.656569	0.62851	D	0.754384090607961	0.83190	7.952887	0.638423896273874	0.77752	6.740092	0.241499713014263	0.18576	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	5.314000	0.65589	7.544000	0.60141	0.514000	0.23422	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	14.045	0.64223	209	0.91859	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	0.07143	2048.68	39	chr16	70128846	.	C	T	2048.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.125;DP=1349;ExcessHet=0.3300;FS=0.679;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=35.90;MQRankSum=0.886;QD=3.16;ReadPosRankSum=-2.550e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:150,47:197:99:875,0,3960	18	0	3	0
chr16	70156668	70156668	G	A	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.G2129A:p.R710H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.000	D	1.000	D	1.68	L	-1.12	T	0.170	D	0.596	D	0.902	4.148	21.4	6.03	2.868	7.971	19.563	0.755	0.104283487791	7.9e-05	0.000798722	0.0004	0.0002	8.639e-05	0	0	2.997e-05	0	0.0029	0.0003752	58	154602	rs369206950	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0.0003	2.236e-05	0	5.038e-05	0	0	2.518e-05	0.0003	0.0029	0.0002	0.0002	0.0001	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	0.0002	0	0	0	0	0	0	4.409e-05	0	0.0041	0.002	0.72154	D	0.004	0.76473	D	1.0	0.90584	D	0.978	0.74104	D	0.000002	0.62929	D	0.060606	1	0.81001	D	1.7	0.43825	L	-1.12	0.77593	T	-2.84	0.63782	D	0.627	0.81658	0.170	0.85404	D	0.596	0.85574	D	10	0.035084307	0.01742	T	0.104283	0.77878	D	0.755	0.91626	.	.	0.922887805294	0.92210	0.764059668460142	0.76353	0.350766976389	0.36924	0.722492992878	0.70410	T	0.317875	0.86014	T	0.046698	0.57918	T	0.290311	0.87693	D	0.115198148770378	0.13954	T	0.960604	0.90093	D	0.29823765	0.52746	0.25352502	0.51001	0.30209807	0.53092	0.28794125	0.54807	-9.043	0.67974	D	.	.	0.184	0.40984	B	.;.;.;.;.	.;.;.;.;.	4.959381	0.81993	27.7	0.99916182528960207	0.98449	0.97384	0.74407	D	AEFDGBCI	0.909881	0.86709	D	0.740566717580453	0.82290	7.726091	0.729994899732807	0.84655	8.353131	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	8.097000	0.89373	8.447000	0.77209	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.661000	0.32996	0.0:0.0:1.0:0.0	19.563	0.95376	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1726.98	43	chr16	70156668	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.650;DP=1134;ExcessHet=0.0000;FS=0.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.12;ReadPosRankSum=1.59;SOR=0.655	GT:AD:DP:GQ:PL	0/1:254,83:337:99:1741,0,7102	20	0	1	0
chr16	71449753	71449753	T	C	exonic	ZNF23	.	nonsynonymous SNV	ZNF23:NM_001304494:exon3:c.A98G:p.E33G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.868	P	0.393	B	0.155	N	1.000	N	-0.11	N	1.19	T	-1.076	T	0.040	T	0.184	-0.214	2.961	1.49	0.299	0.558	5.102	0.029	0.00935978973252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.68238	T	0.135	0.34124	T	0.18	0.29046	B	0.04	0.23831	B	0.154559	0.17857	N	0.472817	1	0.08975	N	0.88	0.21560	L	1.19	0.37578	T	-1.0	0.32791	N	0.187	0.20395	-1.0763	0.08083	T	0.040	0.17362	T	10	0.064076304	0.08444	T	0.00936	0.24553	T	0.029	0.06676	0.185	0.09388	0.340273420219	0.33633	0.07636895168248027	0.07572	0.137404868956	0.15494	0.260840833187	0.04991	T	0.066319	0.32914	T	-0.190795	0.22141	T	-0.51184	0.21125	T	0.158344283699989	0.17748	T	0.227877	0.24909	T	0.049584284	0.08826	0.035816584	0.02907	0.049584284	0.08825	0.035816584	0.02906	-4.431	0.31330	T	.	.	0.085	0.26886	B	.;.;.;.;.;.	.;.;.;.;.;.	1.927178	0.24478	16.41	0.89252014607652541	0.18638	0.00005	0.00104	N	AEFDBCI	0.079711	0.16104	N	-1.02158275272229	0.08157	0.3814743	-1.08050973794219	0.08085	0.3959712	0.0879130568330179	0.16047	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.76	1.49	0.21966	2.157000	0.41946	2.614000	0.33594	-0.147000	0.12262	0.133000	0.23395	0.972000	0.29809	0.006000	0.07323	0.0:0.1026:0.1844:0.713	5.102	0.14100	293	0.88320	.;.;.;.;.;.	.	.	.	.	.	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	1098.98	34	chr16	71449753	.	T	C	1098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.812;SOR=0.740	GT:AD:DP:GQ:PL	0/1:62,41:103:99:1113,0,1499	20	0	1	0
chr16	72787701	72787703	GCC	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7831_7833del:p.G2613del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	1/2:0,101,76,0:177:99:7137,3134,3090,4019,0,3809,7169,3279,4050,7297	16	0	3	0
chr16	72787703	72787703	-	GCC	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7830_7831insGGC:p.G2613_S2614insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	1/2:0,101,76,0:177:99:7137,3134,3090,4019,0,3809,7169,3279,4050,7297	16	0	3	0
chr16	72957835	72957835	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_006885:exon2:c.G2311A:p.G771R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.963	D	0.002	U	1.000	D	1.1	L	-0.73	T	-0.199	T	0.439	T	0.75	2.576	14.57	5.77	2.724	7.573	19.998	0.352	0.0657006717323	.	.	3.52e-05	0	0	0	0	4.86e-05	0	6.079e-05	3.23e-05	5	154602	rs746690503	1.643e-05	1.71e-05	1.362e-05	1.927e-05	2.522e-05	1.112e-05	9.34e-06	1.175e-05	9.55e-06	0	0	0	2.522e-05	0	0	1.799e-05	3.317e-05	1.16e-05	1.972e-05	2.627e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.041	0.41915	D	0.069	0.43913	T	1.0	0.90584	D	0.963	0.70837	D	0.002056	0.37364	U	0.000000	1	0.81001	D	1.61	0.41143	L	-0.73	0.73100	T	-1.91	0.44471	N	0.605	0.62273	-0.1993	0.77689	T	0.439	0.77790	T	10	0.7589694	0.76199	D	0.065701	0.69658	D	0.352	0.67326	0.397	0.42426	0.134007934775	0.12933	0.5679313975537079	0.56721	0.486458548763	0.47507	0.749977231026	0.74443	T	0.122524	0.44626	T	0.0919486	0.63408	D	-0.00506861	0.70007	D	0.590653717517853	0.36032	D	0.757524	0.38090	T	0.107928604	0.25519	0.17191213	0.39408	0.107928604	0.25519	0.17191213	0.39407	-6.971	0.53822	T	.	.	0.740	0.74608	P	.;.	.;.	4.259169	0.64710	24.7	0.99678274904151398	0.79043	0.99793	0.99505	D	AEFDBIJ	0.936855	0.93377	D	0.670752138140934	0.77716	6.728652	0.691650556579473	0.81744	7.598977	0.999999999999998	0.74766	0.580535	0.33130	0	0.54472	0.11627	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	7.658000	0.82741	4.803000	0.44983	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.135000	0.19760	0.0:1.0:0.0:0.0	19.998	0.97395	670	0.60992	.;.	.	.	.	.	.	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	2450.98	123	chr16	72957835	.	C	T	2450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=2272;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=-1.030e-01;SOR=0.736	GT:AD:DP:GQ:PL	0/1:78,89:167:99:2465,0,1846	20	0	1	0
chr16	75414590	75414590	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon2:c.G170A:p.S57N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.003	B	0.001	B	0.234	N	0.997	N	1.59	L	0.92	T	-1.042	T	0.106	T	0.131	4.170	21.6	5.64	2.658	2.103	15.216	0.095	0.00761520582534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.39820	T	0.226	0.25438	T	0.003	0.11197	B	0.001	0.04355	B	0.233843	0.15860	N	0.673458	0.996543	0.22981	N	1.95	0.52479	M	0.92	0.44461	T	-0.63	0.34795	N	0.19	0.20793	-1.0416	0.16830	T	0.106	0.38636	T	10	0.14283314	0.27125	T	0.007615	0.20192	T	0.095	0.27398	0.157	0.06070	0.629112818682	0.62608	0.02188016319116512	0.02140	0.0131043289129	0.01263	0.479553222656	0.35995	T	0.036751	0.24220	T	-0.229881	0.16666	T	-0.567985	0.15635	T	0.479482755643933	0.31878	T	0.562144	0.19863	T	0.11928983	0.28089	0.078210615	0.17497	0.11928983	0.28089	0.078210615	0.17497	-3.813	0.20999	T	.	.	0.064	0.17189	B	.;.;.	.;.;.	2.067376	0.26289	17.07	0.9942059769889221	0.63742	0.67476	0.33447	D	AEFBI	0.266404	0.38333	N	-0.0348032291430037	0.40283	2.389696	0.154357485495578	0.47373	2.968535	0.999999663528292	0.74766	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	2.160000	0.41975	0.180000	0.15620	0.599000	0.40250	1.000000	0.71638	0.965000	0.29475	0.997000	0.79791	0.0:1.0:0.0:0.0	15.216	0.72954	635	0.64580	.;.;.	.	.	.	.	.	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	0.1111	191.42	45	chr16	75414590	.	C	T	191.42	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.369e+00;DP=983;ExcessHet=0.6776;FS=179.431;InbreedingCoeff=-0.1639;MLEAC=5;MLEAF=0.139;MQ=59.99;MQRankSum=0.00;QD=0.87;ReadPosRankSum=-9.360e-01;SOR=8.688	GT:AD:DP:GQ:PL	0/1:33,11:44:23:23,0,532	14	0	4	3
chr16	78115103	78115103	C	T	exonic	WWOX	.	nonsynonymous SNV	WWOX:NM_001291997:exon3:c.C19T:p.R7W	Epileptic encephalopathy, early infantile, 28, Autosomal recessive;Esophageal squamous cell carcinoma, somatic;Spinocrebellar ataxia, autosomal recessive 12, Autosomal recessive	.	2	1446	71	3	0	77	0.0259347	.	.	215521	not_specified|Developmental_and_epileptic_encephalopathy,_28|Developmental_and_epileptic_encephalopathy,_1|Autosomal_recessive_spinocerebellar_ataxia_12|not_provided	MedGen:CN169374|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322,Orphanet:284282|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	1.75	L	0.69	T	0.058	D	0.488	T	0.76	4.306	22.6	4.64	1.485	4.493	9.680	0.478	.	0.0057	0.00579073	0.0076	0.0019	0.0021	0.0013	0.0067	0.0080	0.0056	0.0169	0.0072185	1116	154602	rs141361080	0.0076	0.0076	0.0074	0.0078	0.0169	0.0075	0.0074	0.0162	0.0159	0.0017	0.0031	0.0017	0.0005	0.0101	0.0104	0.0075	0.0068	0.0169	0.0057	0.0057	0.0052	0.0062	0.0164	0.0054	0.0053	0.0135	0.0124	0.0015	0.0011	0.0063	0.0003	0.0017	0.0077	0.0238	0.0077	0.0024	0.0164	0.017	0.91255	D	0.026	0.76473	D	0.999	0.90584	D	0.855	0.77976	P	0.000004	0.62929	D	0.063541	0.999936	0.51612	D	2.215	0.62545	M	-1.29	0.80474	T	-4.51	0.87611	D	0.712	0.72567	0.058	0.83399	D	0.488	0.80525	T	10	0.014221847	0.00299	T	.	.	.	0.478	0.76946	.	.	0.871509983124	0.87026	0.700688383716545	0.70009	.	.	0.504459321499	0.39449	T	0.496922	0.81901	T	-0.114249	0.34068	T	0.0773926	0.75403	D	0.0251814037871313	0.01296	T	0.977402	0.92360	D	0.24572647	0.47533	0.17291698	0.39581	0.26095876	0.49153	0.16274048	0.37787	-12.231	0.89198	D	0.5718421197101098	0.63897	0.191	0.60899	B	.;.;.;.;.;.	.;.;.;.;.;.	5.359359	0.89882	31	0.99907486830016112	0.97801	0.93570	0.58578	D	AEFBI	0.634543	0.61437	D	0.431051714139771	0.63136	4.541765	0.424547021946113	0.63096	4.536986	0.959671742177644	0.28441	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.6	4.64	0.57399	4.540000	0.60375	4.104000	0.41881	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.142:0.788:0.0:0.07	9.680	0.39228	887	0.27948	.;.;.;.;.;.	.	.	.	.	.	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	2498.98	40	chr16	78115103	.	C	T	2498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.479;DP=1125;ExcessHet=0.0000;FS=5.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.846;SOR=1.019	GT:AD:DP:GQ:PL	0/1:77,99:176:99:2513,0,1711	20	0	1	0
chr16	85655727	85655727	A	T	exonic	GSE1	.	nonsynonymous SNV	GSE1:NM_001134473:exon5:c.A487T:p.M163L	.	.	381	1127	14	0	0	14	0.00617284	0.0007	0	703863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.57	T	0.01	B	0.003	B	0.000	D	0.999	D	1.295	L	1.47	T	-1.083	T	0.050	T	0.694	2.263	13.52	2.15	0.697	4.922	9.670	0.193	.	0.0028	0.00279553	0.0032	0.0027	0.0015	0.0002	0.0008	0.0034	0.0025	0.0080	0.0031047	480	154602	rs151194801	0.0029	0.0029	0.0026	0.0031	0.0081	0.0028	0.0028	0.0076	0.0074	0.0026	0.0022	0.0040	5.049e-05	0.0008	0.0058	0.0027	0.0033	0.0081	0.0026	0.0026	0.0026	0.0027	0.0087	0.0024	0.0023	0.0066	0.0059	0.0024	0	0.0013	0.0032	0.0002	0.0010	0	0.0031	0.0019	0.0087	0.144	0.25255	T	0.317	0.29540	T	0.006	0.15535	B	0.001	0.08700	B	0.000000	0.84330	D	0.115413	0.998768	0.45406	D	1.81	0.47622	L	1.47	0.31987	T	-1.07	0.43334	N	0.698	0.70263	-1.0834	0.06702	T	0.050	0.21378	T	10	0.0076492727	0.00174	T	.	.	.	0.193	0.47281	0.113	0.02240	0.216624796971	0.21254	0.578017275652566	0.57730	.	.	0.802392959595	0.82329	T	0.101135	0.40759	T	-0.325232	0.06478	T	-0.235384	0.51248	T	0.0131205379348841	0.00231	T	0.793221	0.43505	T	0.2871086	0.51723	0.16584592	0.38345	0.2871086	0.51723	0.16584592	0.38344	-6.546	0.50640	T	.	.	0.253	0.48797	B	.;.;.;.	.;.;.;.	3.270610	0.44771	22.0	0.81696290854396003	0.13814	0.95259	0.64030	D	AEFBCI	0.626681	0.60941	D	-0.342235722194514	0.27558	1.512964	-0.209525126502462	0.31191	1.76304	0.997746312825063	0.35977	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.79	2.15	0.26590	4.952000	0.63320	5.942000	0.51497	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.8281:0.0:0.1719:0.0	9.670	0.39171	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	525.98	33	chr16	85655727	.	A	T	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.167e+00;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=-3.940e-01;SOR=0.517	GT:AD:DP:GQ:PL	0/1:31,23:54:99:540,0,948	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	1/1:0,79,0,0,0,0:79:99:3520,234,0,3523,238,3527,3523,238,3527,3527,3523,238,3527,3527,3527,3523,238,3527,3527,3527,3527	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	1/1:0,79,0,0,0,0:79:99:3520,234,0,3523,238,3527,3523,238,3527,3527,3523,238,3527,3527,3527,3523,238,3527,3527,3527,3527	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	1/1:0,79,0,0,0,0:79:99:3520,234,0,3523,238,3527,3523,238,3527,3527,3523,238,3527,3527,3527,3523,238,3527,3527,3527,3527	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	1/1:0,79,0,0,0,0:79:99:3520,234,0,3523,238,3527,3523,238,3527,3527,3523,238,3527,3527,3527,3523,238,3527,3527,3527,3527	4	4	6	0
chr16	88436564	88436578	CTTCCCGGGAACACC	-	exonic	ZNF469	.	nonframeshift deletion	ZNF469:NM_001367624:exon3:c.9094_9108del:p.L3032_T3036del,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1473	47	2	0	51	0.017017	.	.	132460	Cardiovascular_phenotype|Keratoconus_1|Ehlers-Danlos_syndrome|Brittle_cornea_syndrome_1|not_provided	MedGen:CN230736|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0046	0.0012	0.0028	0	0	0.0043	0.0060	0.0060	0.0003842	10	26028	rs1483100952	0.0025	0.0024	0.0023	0.0028	0.0212	0.0025	0.0024	0.0182	0.0170	0.0012	0.0022	0.0050	0	0.0002	0.0212	0.0023	0.0033	0.0061	0.0021	0.0021	0.0018	0.0023	0.0073	0.0019	0.0018	0.0054	0.0047	0.0005	0.0055	0.0020	0.0035	0.0002	9.406e-05	0.0272	0.0029	0.0014	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3004.94	62	chr16	88436563	.	GCTTCCCGGGAACACC	G	3004.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=1171;ExcessHet=0.0000;FS=2.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.32;ReadPosRankSum=0.365;SOR=0.684	GT:AD:DP:GQ:PL	0/1:86,78:164:99:3019,0,3361	20	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:73,28:101:99:202,0,1637	5	0	12	4
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	.	3	1387	124	8	0	140	0.0480439	.	.	137995	Fanconi_anemia_complementation_group_A|not_specified|not_provided|Fanconi_anemia|FANCA-related_disorder	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.468	P	0.143	B	0.179	N	1.000	N	1.61	L	-1.88	D	-0.709	T	0.315	T	0.357	-0.052	3.749	1.56	0.073	1.381	4.561	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	1	0	1	0	0.119	4261.42	36	chr16	89767168	.	G	C	4261.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.680e-01;DP=861;ExcessHet=0.0409;FS=2.815;InbreedingCoeff=0.3189;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.895;SOR=0.883	GT:AD:DP:GQ:PL	0/1:28,37:65:99:928,0,655	17	1	3	0
chr16	90009419	90009419	C	T	exonic	DBNDD1	.	nonsynonymous SNV	DBNDD1:NM_001042610:exon2:c.G43A:p.E15K	.	.	422	1094	6	0	0	6	0.00273473	.	.	2201502	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.728	P	0.366	B	0.117	N	0.962	N	2.2	M	1.55	T	-1.051	T	0.069	T	0.35	2.962	15.87	3.94	1.031	2.204	11.151	0.098	0.0202762082611	0.0004	0.000998403	0.0009	0.0001	0.0022	0	0	0.0009	0.0023	0.0009	0.0007762	120	154602	rs201800670	0.0006	0.0006	0.0006	0.0006	0.0038	0.0006	0.0006	0.0026	0.0022	0.0002	0.0017	0.0016	0	0	0.0038	0.0006	0.0008	0.0005	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0013	0.0026	0	0	0	0.0010	0.0014	0.0010	0.004	0.68238	D	0.084	0.66756	T	0.728	0.42542	P	0.366	0.43381	B	0.117431	0.19153	N	0.505809	0.961993	0.26084	N	2.135	0.59519	M	1.55	0.29866	T	-1.86	0.49846	N	0.399	0.45898	-1.0513	0.14036	T	0.069	0.28147	T	9	0.0068715215	0.00156	T	0.020276	0.42842	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.26324308742957114	0.26237	0.44625824241	0.44504	0.489405095577	0.37355	T	0.074383	0.34925	T	-0.445424	0.01202	T	-0.425828	0.30409	T	0.0385339778986064	0.03427	T	0.855114	0.54640	D	0.15155777	0.34448	0.1643971	0.38084	0.15155777	0.34447	0.1643971	0.38084	-4.782	0.40996	T	.	.	0.109	0.35684	B	.;.;.;.	.;.;.;.	4.122651	0.61634	24.4	0.998648731782252	0.94276	0.83088	0.42236	D	AEFDGBI	0.110535	0.21916	N	-0.143488096186244	0.35513	2.04075	-0.203898688213008	0.31396	1.776404	0.999996075129988	0.74766	0.615465	0.37627	0	0.480063	0.06835	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	4.92	3.94	0.44807	1.787000	0.38336	3.158000	0.36555	0.599000	0.40250	0.864000	0.30684	0.999000	0.35428	0.130000	0.19568	0.0:0.8135:0.1865:0.0	11.151	0.47685	745	0.52414	.;.;.;.	.	.	.	.	.	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	1997.98	33	chr16	90009419	.	C	T	1997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.578e+00;DP=865;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.087;SOR=0.836	GT:AD:DP:GQ:PL	0/1:80,88:168:99:2012,0,1945	20	0	1	0
chr17	746794	746794	G	A	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.C1249T:p.R417C,	.	.	.	.	.	.	.	.	.	.	.	2331162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.001	D	1.000	D	1.995	M	1.99	T	-1.008	T	0.142	T	0.927	2.950	15.83	5.84	2.779	4.403	19.135	0.247	0.018377203381	0.0002	.	5.816e-05	0	0	0	0	9.032e-05	0	6.058e-05	4.53e-05	7	154602	rs370614163	5.063e-05	5.062e-05	5.31e-05	4.814e-05	5.577e-05	4.126e-05	3.779e-05	4.439e-05	4.029e-05	0	0	0	2.519e-05	3.753e-05	0	5.577e-05	9.938e-05	3.478e-05	7.231e-05	7.224e-05	0.0001	2.692e-05	0.0001	3.973e-05	3.129e-05	6.803e-05	5.087e-05	4.828e-05	0	0	0	0	0	0	0.0001	0	0	0.024	0.47745	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000971	0.40836	D	0.245608	0.999999	0.81001	D	2.535	0.73915	M	1.99	0.21666	T	-5.31	0.84457	D	0.789	0.78546	-1.0082	0.27479	T	0.142	0.46331	T	10	0.741629	0.74998	D	0.018377	0.40424	T	0.247	0.55478	.	.	0.512942373286	0.50937	0.4276191536691283	0.42678	0.69926860194	0.61024	0.366067111492	0.20266	T	0.183547	0.53593	T	0.0807619	0.62129	D	0.0808863	0.75638	D	0.625006556510925	0.37412	D	0.920408	0.71216	D	0.27068034	0.50139	0.26117897	0.51892	0.27068034	0.50139	0.26117897	0.51891	-3.755	0.20134	T	.	.	0.399	0.59499	A	.;.	.;.	4.986965	0.82651	27.8	0.99913307688857611	0.98238	0.96558	0.69741	D	AEFGBCI	0.694088	0.65320	D	0.67505535200045	0.77999	6.783826	0.646106612199456	0.78321	6.853	0.999999653401408	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	4.575000	0.60619	11.910000	0.99563	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.0:1.0:0.0	19.135	0.93407	943	0.12886	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2174.98	33	chr17	746794	.	G	A	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=1796;ExcessHet=0.0000;FS=2.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=1.14;SOR=0.542	GT:AD:DP:GQ:PL	0/1:66,81:147:99:2189,0,1592	20	0	1	0
chr17	2324278	2324278	G	A	exonic	TSR1	.	nonsynonymous SNV	TSR1:NM_018128:exon15:c.C2333T:p.T778I,	.	.	420	1087	14	1	0	16	0.00730594	.	.	3210534	TSR1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.781	P	0.334	B	0.000	D	1.000	D	0	N	2.71	T	-0.972	T	0.022	T	0.72	4.359	23.0	4.92	2.277	9.706	17.098	0.328	0.015573889284	.	0.00259585	0.0023	9.775e-05	0.0017	0	0.0012	0.0026	0.0013	0.0060	0.0020957	324	154602	rs141644586	0.0017	0.0018	0.0016	0.0018	0.0054	0.0017	0.0016	0.0050	0.0048	0.0003	0.0014	0.0039	0	0.0012	0.0047	0.0015	0.0024	0.0054	0.0017	0.0017	0.0016	0.0017	0.0075	0.0015	0.0014	0.0055	0.0049	0.0003	0	0.0022	0.0032	0.0002	0.0010	0.0102	0.0020	0.0033	0.0075	0.04	0.42199	D	0.036	0.52060	D	0.781	0.44300	P	0.334	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.71	0.12055	T	-4.67	0.79571	D	0.674	0.68169	-0.9718	0.36819	T	0.022	0.09513	T	10	0.012049884	0.00261	T	0.015574	0.36375	T	0.328	0.65026	.	.	0.517104213562	0.51352	0.7157283914635781	0.71515	0.521668995998	0.49930	0.705295443535	0.67911	T	0.168169	0.51508	T	-0.28306	0.10346	T	-0.178557	0.56657	T	0.0806617079686739	0.10072	T	0.957504	0.83996	D	0.66671205	0.76257	0.52545553	0.72583	0.66671205	0.76258	0.52545553	0.72583	-9.113	0.68421	D	.	.	0.317	0.54279	B	.	.	3.791724	0.54583	23.5	0.99897748403918818	0.97048	0.97204	0.73304	D	AEFDBCI	0.898383	0.84161	D	0.305920468281092	0.56453	3.80992	0.43935198592711	0.64038	4.649846	0.999999998703384	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.92	4.92	0.64147	9.842000	0.98352	8.643000	0.77902	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.098	0.86515	648	0.63242	.	.	.	.	.	.	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	0.07143	5026.68	34	chr17	2324278	.	G	A	5026.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.760e-01;DP=889;ExcessHet=0.3300;FS=0.974;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.79;ReadPosRankSum=-2.700e-02;SOR=0.775	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,38:75:99:.:.:1464,0,1439	18	0	3	0
chr17	2695086	2695086	C	T	exonic	CLUH	.	nonsynonymous SNV	CLUH:NM_001366661:exon16:c.G2623A:p.G875S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.076	B	0.019	B	0.000	D	0.978	D	-0.06	N	-1.26	T	-0.770	T	0.234	T	0.391	1.678	11.57	5.64	2.663	7.485	18.699	0.331	0.0273261013615	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445078084	1.096e-05	1.094e-05	9.541e-06	1.24e-05	2.255e-05	6.49e-06	5.25e-06	6.53e-06	5.03e-06	0	2.255e-05	3.835e-05	0	0	0	1.17e-05	0	1.161e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.413e-05	0	2.941e-05	0	0	0.879	0.02550	T	0.883	0.03196	T	0.027	0.19556	B	0.019	0.18783	B	0.000001	0.84330	D	0.055041	0.977672	0.39389	D	0.39	0.12200	N	-1.26	0.79176	T	0.52	0.02853	N	0.498	0.55106	-0.7704	0.56836	T	0.234	0.60099	T	10	0.2330744	0.40317	T	0.027326	0.50151	D	0.331	0.65325	0.266	0.21261	0.336933722576	0.33308	0.3718391103603266	0.37097	0.316282306173	0.33892	0.774609088898	0.78114	T	0.012099	0.10690	T	-0.0324498	0.47061	T	-0.201523	0.54503	T	0.26691888768251	0.23615	T	0.962804	0.86152	D	0.10642468	0.25164	0.17651509	0.40191	0.10642468	0.25164	0.17651509	0.40190	-6.212	0.48020	T	.	.	0.145	0.51549	B	.;.;.	.;.;.	4.312302	0.65933	24.9	0.70133537730446815	0.09196	0.98181	0.80306	D	AEFDBCI	0.947731	0.95861	D	-0.135982107693151	0.35833	2.063301	0.0951813420282528	0.44305	2.714899	0.999999970957066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.566000	0.81367	7.660000	0.64180	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:1.0:0.0:0.0	18.699	0.91577	911	0.21964	CLU central domain|CLU central domain;CLU central domain|CLU central domain;CLU central domain|CLU central 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	966.98	33	chr17	2695086	.	C	T	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.120e-01;DP=772;ExcessHet=0.0000;FS=1.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.96;ReadPosRankSum=-6.500e-02;SOR=0.527	GT:AD:DP:GQ:PL	0/1:23,34:57:99:981,0,644	20	0	1	0
chr17	4169280	4169280	A	G	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon24:c.T3421C:p.S1141P	.	.	428	1092	2	0	0	2	0.000914913	.	.	2436683	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.853	P	0.504	P	0.000	D	1.000	D	-1.175	N	.	.	-1.022	T	0.044	T	0.757	3.260	16.94	5.55	2.110	5.890	10.548	0.204	0.0317158082585	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779897564	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0	0	0.0006	0.0002	0.0001	2.526e-05	0.0001	0.0001	0.0001	9.413e-05	0.0003	7.577e-05	6.281e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0003	0	0	.	.	.	0.843	0.11691	T	0.001	0.47048	B	0.004	0.47761	B	0.000004	0.62929	D	0.063541	1	0.81001	D	-0.85	0.01485	N	0.89	0.46412	T	.	.	.	0.485	0.61341	-1.0225	0.22899	T	0.044	0.19029	T	9	0.1908789	0.34750	T	0.031716	0.53731	D	0.204	0.49076	0.519	0.62066	0.824805125736	0.82314	0.837359896593853	0.83695	0.55280381684	0.52074	0.744704425335	0.73664	T	0.035674	0.23812	T	-0.155149	0.27508	T	-0.165803	0.57826	T	0.150031177525666	0.17106	T	0.937606	0.76517	D	0.3517106	0.57200	0.43867314	0.67245	0.3517106	0.57200	0.43867314	0.67245	-8.559	0.64819	D	.	.	0.134	0.31048	B	.;.;.	.;.;.	2.902969	0.38485	20.7	0.99757176201781239	0.84772	0.97287	0.73806	D	AEFDGBI	0.830173	0.74894	D	-0.118346070433177	0.36594	2.117329	0.114982761989801	0.45313	2.796778	0.999989392536876	0.51787	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	5.862000	0.69313	11.261000	0.91078	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.8466:0.0:0.0:0.1534	10.548	0.44259	329	0.86514	FYVE zinc finger;.;.	.	.	.	.	.	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	842.98	33	chr17	4169280	.	A	G	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=765;ExcessHet=0.0000;FS=4.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=0.377;SOR=1.329	GT:AD:DP:GQ:PL	0/1:34,30:64:99:857,0,839	20	0	1	0
chr17	4674894	4674894	G	A	exonic	PELP1	.	nonsynonymous SNV	PELP1:NM_014389:exon12:c.C1337T:p.A446V	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.908	P	0.377	B	0.000	D	0.988	N	0.345	N	1.51	T	-1.011	T	0.077	T	0.604	1.040	9.249	5.19	2.705	4.755	16.252	0.209	0.0117089123032	.	.	0.0001	0	8.646e-05	0	0	4.508e-05	0	0.0005	8.41e-05	13	154602	rs773234059	6.158e-05	6.156e-05	3.268e-05	9.078e-05	0.0017	5.096e-05	4.716e-05	0.0009	0.0007	2.987e-05	4.472e-05	0	0	0	0.0017	1.529e-05	4.969e-05	0.0007	2.63e-05	2.627e-05	2.57e-05	2.693e-05	0.0004	8.15e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.052	0.39097	T	0.002	0.83351	D	0.908	0.50127	P	0.377	0.43762	B	0.000108	0.50451	D	0.136000	0.987698	0.24490	N	0.805	0.20218	L	0.91	0.44856	T	-1.51	0.36787	N	0.696	0.70175	-1.0111	0.26573	T	0.077	0.30767	T	10	0.51496845	0.62313	D	0.011709	0.29605	T	0.209	0.49871	.	.	0.463397627057	0.45963	0.6838945383333682	0.68328	0.537372367957	0.51041	0.565545856953	0.48049	T	0.024672	0.18600	T	-0.33885	0.05468	T	-0.353425	0.38812	T	0.0784600561480795	0.09790	T	0.887511	0.61533	D	0.08512955	0.19735	0.14361331	0.34125	0.08512955	0.19735	0.14361331	0.34124	-6.639	0.51350	T	.	.	0.293	0.52418	B	.;.;.;.	.;.;.;.	3.093073	0.41652	21.4	0.93187519780163264	0.22851	0.89661	0.50269	D	AEFDBI	0.503054	0.53520	D	0.133738260230833	0.48043	3.021682	0.165159127304959	0.47952	3.017766	0.996158970414557	0.34559	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	4.159000	0.57939	11.771000	0.95863	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	16.252	0.82316	778	0.48011	Uncharacterised domain NUC202;Uncharacterised domain NUC202;Uncharacterised domain NUC202;Uncharacterised domain NUC202	.	.	.	.	.	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	2183.98	36	chr17	4674894	.	G	A	2183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=953;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=0.843;SOR=0.734	GT:AD:DP:GQ:PL	0/1:76,86:162:99:2198,0,1864	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	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	0|2:21,0,23:44:99:0|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:932,995,1823,0,828,701:4933876	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	1|2:0,23,21:44:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3707,817,723,1181,0,907:4933876	0	10	6	1
chr17	7384513	7384513	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon7:c.C896A:p.A299D	.	.	418	1062	39	3	0	45	0.0207469	.	.	3217119	TNK1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.879	P	0.659	P	0.028	N	0.968	D	0.25	N	-1.65	D	-0.394	T	0.246	T	0.483	5.216	33	4.03	1.485	2.355	11.511	0.354	.	0.0066	0.00299521	0.0114	0.0023	0.0117	0	0.0014	0.0156	0.0215	0.0078	0.005912	914	154602	rs61730812	0.0083	0.0083	0.0084	0.0082	0.0250	0.0082	0.0081	0.0216	0.0203	0.0016	0.0067	0.0095	0	0.0006	0.0250	0.0094	0.0100	0.0036	0.0058	0.0058	0.0066	0.0051	0.0092	0.0055	0.0054	0.0086	0.0084	0.0018	0	0.0065	0.0072	0	0.0004	0.0408	0.0092	0.0142	0.0037	.	.	.	0.216	0.30143	T	0.853	0.48338	P	0.529	0.52771	P	0.028213	0.25637	N	0.280839	0.967537	0.38600	D	0.445	0.12748	N	-1.65	0.82625	D	.	.	.	0.451	0.55019	-0.3939	0.72219	T	0.246	0.61542	T	10	0.0139044225	0.00294	T	.	.	.	.	.	.	.	0.919329187289	0.91851	0.49443603386165175	0.49364	0.812905501583	0.66818	0.624475359917	0.56361	T	0.160806	0.50480	T	-0.29015	0.09621	T	-0.18245	0.56297	T	0.0225062001981507	0.00965	T	.	.	.	0.3468623	0.56822	0.3383932	0.59617	0.3468623	0.56822	0.3383932	0.59617	-7.8	0.59699	D	.	.	0.187	0.44847	B	.;.	.;.	4.194530	0.63243	24.6	0.99758617379124681	0.84851	0.77145	0.37899	D	AEFDGBHCI	0.501372	0.53423	D	-0.0255679916352551	0.40700	2.421557	-0.00384026937174498	0.39541	2.346067	0.999999999639966	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	5.0	4.03	0.46115	2.279000	0.43094	3.265000	0.37119	0.599000	0.40250	0.073000	0.22155	0.996000	0.32793	0.997000	0.79791	0.0:0.9126:0.0:0.0874	11.511	0.49744	192	0.92531	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	665.98	34	chr17	7384513	.	C	A	665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=722;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.702;SOR=1.099	GT:AD:DP:GQ:PL	0/1:23,26:49:99:680,0,543	20	0	1	0
chr17	7386977	7386991	CCTCTTTCCACAGCC	-	exonic	TNK1	.	frameshift deletion	TNK1:NM_003985:exon9:c.1233_1234del:p.P412Rfs*105,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.221e-07	6.84e-07	1.421e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.743e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1861.94	36	chr17	7386976	.	TCCTCTTTCCACAGCC	T	1861.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.308;DP=834;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=2.07;SOR=0.872	GT:AD:DP:GQ:PL	0/1:77,51:128:99:1876,0,3051	20	0	1	0
chr17	7758572	7758572	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon14:c.C2129T:p.P710L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	0.36	T	-0.172	T	0.418	T	0.603	5.163	32	5.91	2.809	6.874	19.073	0.446	0.0275278183198	.	.	4.121e-05	0.0002	0	0	0	4.496e-05	0	0	3.23e-05	5	154602	rs778991094	3.694e-05	3.694e-05	3.267e-05	4.125e-05	5.974e-05	2.894e-05	2.592e-05	3.373e-05	3.038e-05	5.974e-05	2.236e-05	0	2.519e-05	0	0	4.406e-05	1.656e-05	0	9.203e-05	9.194e-05	0.0001	8.075e-05	0.0003	5.53e-05	4.366e-05	0.0002	0.0001	0.0003	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	0.36	0.57880	T	-8.03	0.96581	D	0.718	0.75834	-0.1719	0.78382	T	0.418	0.76422	T	10	0.7411179	0.74964	D	0.027528	0.50329	D	0.446	0.74797	.	.	0.60361576897	0.60044	0.8878294434246381	0.88751	0.962073559811	0.73047	0.660084724426	0.61421	T	0.298706	0.67125	T	-0.139679	0.29941	T	-0.158981	0.58444	T	0.967608034610748	0.67964	D	0.938406	0.76842	D	0.6797611	0.76956	0.67748857	0.81058	0.6797611	0.76957	0.67748857	0.81059	-7.761	0.59430	D	.	.	0.567	0.67492	P	.;.	.;.	5.116819	0.85570	28.6	0.9991725621337475	0.98518	0.97154	0.73007	D	AEFDBI	0.771768	0.70630	D	0.913622083711754	0.92412	11.40783	0.883505387569979	0.94813	13.06354	0.999999413941121	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.932000	0.75683	7.674000	0.64943	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.073	0.93128	214	0.91692	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	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	834.98	34	chr17	7758572	.	C	T	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.61;ReadPosRankSum=-1.931e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:64,33:97:99:849,0,1665	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	1/1:2,55,0,0,0,0:57:99:1882,120,0,1890,165,1935,1890,165,1935,1935,1890,165,1935,1935,1935,1890,165,1935,1935,1935,1935	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	1/1:2,55,0,0,0,0:57:99:1882,120,0,1890,165,1935,1890,165,1935,1935,1890,165,1935,1935,1935,1890,165,1935,1935,1935,1935	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	1/1:2,55,0,0,0,0:57:99:1882,120,0,1890,165,1935,1890,165,1935,1935,1890,165,1935,1935,1935,1890,165,1935,1935,1935,1935	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	1/1:2,55,0,0,0,0:57:99:1882,120,0,1890,165,1935,1890,165,1935,1935,1890,165,1935,1935,1935,1890,165,1935,1935,1935,1935	0	14	0	0
chr17	7925713	7925713	G	A	exonic	KCNAB3	.	stopgain	KCNAB3:NM_004732:exon7:c.C508T:p.R170X,	.	.	387	1129	6	0	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.840	27.5	3.57	1.388	0.034	13.716	.	.	.	.	0.0002	0	0.0002	0.0001	0	0.0002	0	0.0002	0.0001617	25	154602	rs61745617	0.0001	0.0001	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0001	0.0002	0.0006	0	1.872e-05	0.0028	0.0001	0.0003	0.0003	0.0001	0.0001	7.719e-05	0.0001	0.0003	6.525e-05	5.334e-05	8.894e-05	5.398e-05	0	0	0.0003	0.0014	0	0	0	8.825e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.056844	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.34	0.38129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371528	0.88158	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.300832	0.97402	37	0.99699332229263382	0.80522	0.47742	0.28051	N	AEFDBI	0.254152	0.37353	N	0.453179566303899	0.64382	4.691647	0.269139706072698	0.53746	3.542074	0.0772722850272549	0.15754	0.615465	0.37627	0	0.633656	0.55848	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	5.83	3.57	0.40014	0.081000	0.14677	2.985000	0.35856	-0.153000	0.12021	0.702000	0.28645	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.5724:0.4276	13.716	0.62178	572	0.70300	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	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	2109.98	46	chr17	7925713	.	G	A	2109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.933;DP=1045;ExcessHet=0.0000;FS=1.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-9.700e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/1:79,84:163:99:2124,0,1845	20	0	1	0
chr17	7937187	7937187	C	G	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon7:c.C852G:p.S284R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.999	D	0.996	D	0.001	D	0.942	D	0.895	L	0.88	T	-0.780	T	0.233	T	0.86	3.180	16.64	-0.024	0.128	0.628	8.790	0.277	0.0318542559781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.252	0.23570	T	0.999	0.77913	D	0.996	0.84481	D	0.000727	0.42129	D	0.188084	0.942354	0.37368	D	0.205	0.09354	N	-0.14	0.65006	T	-0.75	0.21003	N	0.5	0.54496	-0.7803	0.56286	T	0.233	0.59977	T	10	0.18890473	0.34466	T	0.031854	0.53836	D	0.277	0.59375	0.269	0.21735	0.730438685338	0.72804	0.6659606303200777	0.66533	0.867839928353	0.69282	0.62681388855	0.56693	T	0.025	0.18611	T	0.195382	0.73461	D	0.0428765	0.73116	D	0.765474617481232	0.44170	D	0.70113	0.35642	T	0.062948346	0.13203	0.085058406	0.19613	0.062948346	0.13202	0.085058406	0.19612	-2.097	0.03809	T	.	.	0.420	0.60656	A	.;.;.;.	.;.;.;.	2.735446	0.35818	20.0	0.99558244010448482	0.71583	0.92051	0.54836	D	AEFDBI	0.230903	0.35421	N	-0.0386776570644641	0.40110	2.376451	-0.0578671974024748	0.37151	2.171454	0.110309543224778	0.16629	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	-0.0242	0.13266	0.412000	0.20852	0.404000	0.18035	-0.176000	0.10722	1.000000	0.71638	0.995000	0.32472	0.994000	0.71098	0.0:0.5569:0.0:0.4431	8.790	0.34005	707	0.57054	.;.;.;.	.	.	.	.	.	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	1421.98	35	chr17	7937187	.	C	G	1421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=838;ExcessHet=0.0000;FS=4.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-6.460e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:84,58:142:99:1436,0,2075	20	0	1	0
chr17	8012552	8012552	C	T	exonic	GUCY2D	.	nonsynonymous SNV	GUCY2D:NM_000180:exon10:c.C2059T:p.H687Y,	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	998038	Cone-rod_dystrophy_6|Night_blindness,_congenital_stationary,_type1i|Leber_congenital_amaurosis_1|Choroidal_dystrophy,_central_areolar,_1|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777,Orphanet:1872|MONDO:MONDO:0032811,MedGen:C5231408,OMIM:618555|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500,Orphanet:75377|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.004	B	0.007	B	0.000	D	0.694	N	-1.32	N	-1.6	D	-0.741	T	0.204	T	0.528	-0.918	0.401	5.34	2.776	2.072	11.961	0.303	0.0388486519081	.	.	0.0001	0	0.0002	0	0	0.0001	0.0011	0.0002	8.41e-05	13	154602	rs751340355	7.252e-05	7.251e-05	7.896e-05	6.601e-05	0.0004	6.115e-05	5.7e-05	0.0002	0.0002	0	0.0004	0	0	0	0	4.947e-05	0.0001	0.0003	4.599e-05	4.596e-05	6.422e-05	2.69e-05	0.0003	2.109e-05	1.527e-05	8.882e-05	5.39e-05	0	0	0.0003	0	0	0	0	4.41e-05	0	0	1.0	0.00964	T	0.816	0.03875	T	0.004	0.12183	B	0.007	0.12992	B	0.000086	0.51296	D	0.000000	0.693777	0.30167	N	-0.805	0.01590	N	-1.6	0.82165	D	2.76	0.00179	N	0.258	0.29197	-0.7414	0.58381	T	0.204	0.56197	T	10	0.11764017	0.22222	T	0.038849	0.58465	D	0.303	0.62400	.	.	0.839038645063	0.83750	0.6927715124008303	0.69217	0.263583704205	0.28913	0.487227499485	0.37055	T	0.199898	0.55731	T	-0.20453	0.20155	T	-0.231246	0.51652	T	0.0204728691415224	0.00747	T	0.767723	0.39623	T	0.0682483	0.14853	0.08903461	0.20796	0.0682483	0.14853	0.08903461	0.20795	-4.723	0.33681	T	0.03276371317297675	0.00129	0.093	0.14155	B	.	.	1.858956	0.23613	16.09	0.59071717002060675	0.06138	0.62622	0.31837	D	AEFDBI	0.212120	0.33784	N	-0.38534571705772	0.25991	1.415078	-0.131773353980741	0.34118	1.958952	0.952137603564047	0.27998	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.34	5.34	0.75982	2.123000	0.41620	3.372000	0.37939	0.596000	0.33519	0.823000	0.30032	1.000000	0.68203	0.366000	0.26021	0.0:0.9172:0.0:0.0828	11.961	0.52295	649	0.63102	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase 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	690.98	35	chr17	8012552	.	C	T	690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.633e+00;DP=808;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=1.15;SOR=0.864	GT:AD:DP:GQ:PL	0/1:39,31:70:99:705,0,1036	20	0	1	0
chr17	10523831	10523831	C	T	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon36:c.G5229A:p.M1743I	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.0	B	0.220	N	1.000	N	0.3	N	-1.1	T	-1.006	T	0.149	T	0.113	0.796	8.191	-9.68	-1.956	-4.859	5.975	0.198	0.0127865930747	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1042299	3.42e-06	3.42e-06	2.723e-06	4.125e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.423	0.09746	T	0.163	0.31125	T	0.0	0.02946	B	0.0	0.01387	B	0.219838	0.16165	N	0.440276	1	0.81001	D	0.565	0.15224	N	-1.1	0.77336	T	0.25	0.04456	N	0.249	0.28146	-1.0065	0.28004	T	0.149	0.47487	T	10	0.06756088	0.09430	T	0.012787	0.31668	T	0.198	0.48105	0.413	0.45052	0.32980341726	0.32591	0.18926248756716582	0.18844	0.377242744359	0.39159	0.566785991192	0.48224	T	0.129254	0.45741	T	-0.184615	0.23052	T	-0.502963	0.22040	T	0.0405007787048817	0.03782	T	0.654235	0.26451	T	0.048848353	0.08579	0.03834892	0.03684	0.048848353	0.08579	0.03834892	0.03684	-0.922	0.00917	T	0.15926143194542594	0.19352	0.092	0.15966	B	.;.	.;.	-1.649551	0.00217	0.003	0.75013498224509823	0.10912	0.04783	0.10497	N	AEFBI	0.080918	0.16366	N	-1.60076502729641	0.01260	0.05485549	-1.65012036285472	0.01375	0.06212121	0.745832044900636	0.23283	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.4	-9.68	0.00441	-3.962000	0.00366	-12.695000	0.00507	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.1684:0.5131:0.1561:0.1625	5.975	0.18606	425	0.81160	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	1	0	0	0	0.02381	1374.98	38	chr17	10523831	.	C	T	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.769e+00;DP=879;ExcessHet=0.0000;FS=1.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=-1.445e+00;SOR=0.518	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1389,0,1315	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	1/1:0,4,0:4:12:180,12,0,180,12,180	5	7	8	0
chr17	17270967	17270967	G	A	exonic	COPS3	.	nonsynonymous SNV	COPS3:NM_001316356:exon2:c.C26T:p.T9M	.	.	435	1074	13	0	0	13	0.00601573	.	.	2338714	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.891	P	0.432	B	0.000	D	1.000	D	0.345	N	0.93	T	-1.038	T	0.088	T	0.77	4.550	24.6	5.52	2.752	9.685	18.776	0.247	0.0166037733078	.	0.000399361	0.0003	0	0.0004	0	0	0.0003	0.0011	0.0008	0.0003105	48	154602	rs147175757	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0002	0.0032	0.0027	2.987e-05	0.0006	0.0007	2.519e-05	0	0.0045	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0007	0.0005	2.408e-05	0	0.0011	0.0006	0	0	0.0068	0.0001	0.0024	0.0004	0.11	0.29688	T	0.109	0.37872	T	0.891	0.49025	P	0.432	0.45448	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.5	0.37844	L	0.93	0.44065	T	-1.49	0.41239	N	0.648	0.65930	-1.0383	0.17832	T	0.088	0.33913	T	10	0.11189371	0.20969	T	0.016604	0.37934	T	0.247	0.55478	.	.	0.499331887115	0.49568	0.3663468224563598	0.36548	0.628598450742	0.56923	0.855083107948	0.90379	D	0.219592	0.58264	T	-0.178982	0.23886	T	-0.119026	0.61883	T	0.042003400236306	0.04055	T	0.980102	0.93255	D	0.24284342	0.47216	0.18541554	0.41653	0.24284342	0.47216	0.18541554	0.41652	-6.105	0.47623	T	.	.	0.125	0.29751	B	.;.;.;.	.;.;.;.	5.275240	0.88578	29.6	0.99866367590375171	0.94457	0.99336	0.94674	D	AEFBI	0.918247	0.88702	D	0.484457815633573	0.66183	4.917188	0.593304688198876	0.74456	6.140564	0.999999989919915	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.788000	0.98207	9.754000	0.81484	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	18.776	0.91877	851	0.35303	.;.;.;.	.	.	.	.	.	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	581.98	33	chr17	17270967	.	G	A	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-1.220e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:43,26:69:99:596,0,1077	20	0	1	0
chr17	18317476	18317476	C	T	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon1:c.C1687T:p.P563S,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.001	B	0.425	N	1.000	N	0.345	N	1.48	T	-1.030	T	0.044	T	0.114	-1.398	0.023	5.05	1.529	0.648	11.841	0.097	0.00504753955247	.	0.00119808	0.0006	0.0002	0	0	0	1.502e-05	0	0.0041	0.0004916	76	154602	rs200520378	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	2.987e-05	4.472e-05	0	2.519e-05	0	0.0009	2.968e-05	0.0003	0.0041	0.0001	0.0001	0.0001	0.0001	0.0025	7.57e-05	6.276e-05	0.0014	0.0011	4.81e-05	0	0	0	0	0	0	5.88e-05	0	0.0025	0.221	0.18889	T	0.519	0.10501	T	0.0	0.02946	B	0.001	0.04355	B	0.425160	0.12820	N	0.747973	1	0.08975	N	1.355	0.33814	L	1.48	0.31731	T	-0.67	0.19297	N	0.079	0.05414	-1.0298	0.20519	T	0.044	0.19111	T	10	0.003555864	0.00064	T	0.005048	0.12784	T	0.097	0.27909	.	.	0.0846915920261	0.08053	0.4365567616013322	0.43572	0.0483416464701	0.05284	0.240195050836	0.02808	T	0.008682	0.07952	T	-0.625632	0.00102	T	-0.671735	0.07498	T	0.0231691952955885	0.01044	T	.	.	.	0.0968963	0.22830	0.044957165	0.05943	0.0968963	0.22830	0.044957165	0.05942	-1.892	0.02798	T	.	.	0.067	0.02548	B	.	.	0.190341	0.05766	2.209	0.37771591860586828	0.02509	0.45170	0.27479	N	AEFBCI	0.172718	0.29976	N	-0.826717188580293	0.12630	0.6168489	-0.750243183381743	0.15716	0.8279547	0.999999601574933	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	6.03	5.05	0.67566	0.148000	0.16042	1.439000	0.26511	0.599000	0.40250	0.000000	0.06391	0.007000	0.19602	0.001000	0.02609	0.0:0.919:0.0:0.081	11.841	0.51625	507	0.75469	Folliculin/SMCR8, tripartite DENN 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	1167.98	43	chr17	18317476	.	C	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=2215;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=0.803;SOR=0.616	GT:AD:DP:GQ:PL	0/1:64,47:111:99:1182,0,1575	20	0	1	0
chr17	29073992	29073992	G	A	exonic	TIAF1	.	nonsynonymous SNV	TIAF1:NM_004740:exon1:c.C208T:p.R70C,	.	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.002	B	.	.	1.000	N	0	N	.	.	-1.019	T	0.025	T	0.085	0.996	9.066	-6.21	-1.251	-0.317	3.467	0.115	.	0.0079	0.00359425	0.0056	0.0021	0.0038	0	0.0012	0.0089	0.0022	0.0006	0.0061966	958	154602	rs115111915	0.0087	0.0087	0.0090	0.0084	0.0104	0.0086	0.0085	0.0103	0.0102	0.0023	0.0052	0.0083	5.038e-05	0.0016	0.0016	0.0104	0.0069	0.0005	0.0064	0.0064	0.0067	0.0060	0.0093	0.0061	0.0059	0.0087	0.0085	0.0034	0	0.0081	0.0089	0	0.0012	0.0136	0.0093	0.0100	0.0013	.	.	.	0.152	0.32249	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.092	0.07125	-1.0187	0.24139	T	0.025	0.10688	T	8	0.0034545362	0.00061	T	.	.	.	.	.	.	.	0.139678290688	0.13603	0.01665693375854248	0.01620	0.267289047537	0.29270	0.230452418327	0.02002	T	0.002592	0.01984	T	-0.620891	0.00109	T	-0.65232	0.08793	T	0.00862947792009919	0.00106	T	0.478252	0.14398	T	0.19761428	0.41633	0.086252645	0.19971	0.19761428	0.41633	0.086252645	0.19971	-4.025	0.24177	T	.	.	0.170	0.37331	B	.	.	0.559357	0.09281	6.061	0.81430019436358825	0.13681	0.00815	0.03299	N	AEFBCI	0.044571	0.07187	N	-1.14972097517527	0.05784	0.2645968	-1.19317304276541	0.06023	0.2886944	0.95747027176351	0.28306	0.722319	0.85440	0	0.643519	0.57511	0	0.698795	0.65105	0	0.530356	0.10902	0	.	.	4.61	-6.21	0.01887	-0.634000	0.05575	-0.187000	0.11075	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.788000	0.37229	0.5317:0.103:0.2579:0.1075	3.467	0.07120	249	0.90233	.	.	.	.	.	rs115111915	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	1789.98	33	chr17	29073992	.	G	A	1789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=840;ExcessHet=0.0000;FS=1.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.100;SOR=0.651	GT:AD:DP:GQ:PL	0/1:68,68:136:99:1804,0,1707	20	0	1	0
chr17	32321248	32321248	C	T	exonic	RHBDL3	.	nonsynonymous SNV	RHBDL3:NM_001363835:exon8:c.C1133T:p.S378L,	.	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.002	B	.	.	1.000	N	.	.	-0.43	T	-0.958	T	0.121	T	0.057	2.313	13.69	-11.2	-2.402	-0.971	1.002	0.147	.	0.0004	0.000798722	0.0007	0	0.0004	0.0004	0	0.0002	0.0023	0.0034	0.0005239	81	154602	rs200744203	0.0006	0.0006	0.0005	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	0	8.945e-05	3.826e-05	0.0007	0	0.0014	0.0004	0.0004	0.0042	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	2.405e-05	0	0.0001	0	0	0	0	0.0003	0	0.0037	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.43	0.69657	T	0.75	0.02007	N	.	.	-0.9584	0.39479	T	0.121	0.42058	T	8	0.0052678287	0.00115	T	.	.	.	0.147	0.38986	.	.	0.183819452728	0.17975	.	.	.	.	.	.	.	0.00646	0.05891	T	-0.55049	0.00290	T	-0.564355	0.15971	T	0.0167075810970935	0.00428	T	0.376562	0.08996	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18331	B	.	.	-0.385169	0.02269	0.235	0.83689378121183922	0.14865	0.00722	0.03040	N	AEFDBI	0.031628	0.03420	N	-1.41421741166131	0.02513	0.1110872	-1.563874008089	0.01882	0.08580454	0.999999987625058	0.74766	0.706298	0.61202	0	0.573078	0.20572	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.6	-11.2	0.00099	-0.606000	0.05750	-3.025000	0.03129	-1.917000	0.00510	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.1951:0.2973:0.2015:0.3061	1.002	0.01387	939	0.14249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1697.98	33	chr17	32321248	.	C	T	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=842;ExcessHet=0.0000;FS=2.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.832;SOR=0.962	GT:AD:DP:GQ:PL	0/1:82,66:148:99:1712,0,1978	20	0	1	0
chr17	32474816	32474816	G	T	exonic	PSMD11	.	nonsynonymous SNV	PSMD11:NM_001270482:exon8:c.G841T:p.G281W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.445	M	-1.0	T	0.376	D	0.589	D	0.882	4.661	25.7	5.2	2.698	9.190	16.260	0.613	0.0804131713779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.942	0.52977	P	0.753	0.56122	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-1.0	0.76037	T	-7.43	0.94843	D	0.809	0.80669	0.376	0.88732	D	0.589	0.85281	D	10	0.86807096	0.86059	D	0.080413	0.73454	D	0.782	0.92746	0.493	0.58048	0.737800549552	0.73545	0.8155746020591057	0.81513	1.76035964692	0.91122	0.907638669014	0.97242	D	0.479431	0.80884	T	0.401247	0.89986	D	0.338587	0.89859	D	0.999186336994171	0.96464	D	0.993101	0.97798	D	0.8357761	0.86307	0.7840474	0.87277	0.8357761	0.86309	0.7840474	0.87278	-14.127	0.93462	D	.	.	0.978	0.90926	P	.;.;.	.;.;.	6.288784	0.94951	34	0.99319733739824889	0.59317	0.98142	0.79959	D	AEFDBCI	0.953933	0.97064	D	0.697268921211665	0.79451	7.080829	0.709606973726974	0.83107	7.93605	0.999999991732678	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	9.310000	0.95328	11.713000	0.94685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.260	0.82360	865	0.32612	Proteasome component (PCI) domain;Proteasome component (PCI) domain;Proteasome component (PCI) 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	86.98	33	chr17	32474816	.	G	T	86.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.046e+00;DP=843;ExcessHet=0.0000;FS=80.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.12;SOR=6.665	GT:AD:DP:GQ:PL	0/1:105,27:132:99:101,0,2337	20	0	1	0
chr17	36166162	36166162	C	G	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon13:c.G1483C:p.A495P	.	.	554	963	5	0	0	5	0.00258933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.977	D	0.726	P	0.205	U	1.000	N	0	N	2.47	T	-1.026	T	0.037	T	0.212	1.788	11.94	.	0.107	-0.095	.	0.057	0.00330790858622	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421688407	0.0022	0.0030	0.0022	0.0022	0.0026	0.0022	0.0021	0.0017	0.0017	0.0002	0.0009	0.0253	2.522e-05	0.0084	0.0026	0.0018	0.0027	0.0005	0.0032	0.0031	0.0032	0.0032	0.0033	0.0029	0.0028	0.0029	0.0027	0.0004	0.0085	0.0009	0.0319	0	0.0155	0	0.0033	0.0018	0.0003	.	.	.	0.0	0.92824	D	0.977	0.58535	D	0.726	0.55126	P	0.204926	0.03346	U	4.049530	1	0.08975	N	0.805	0.20218	L	.	.	.	.	.	.	0.118	0.10769	-1.0265	0.21593	T	0.037	0.15986	T	8	0.0059387684	0.00133	T	0.003308	0.07359	T	.	.	0.433	0.48336	0.043077524339	0.03247	0.014489744751948279	0.01405	.	.	0.488563030958	0.37238	T	0.015175	0.12778	T	-0.344356	0.05092	T	-0.477374	0.24726	T	0.35944202542305	0.27387	T	0.718628	0.33152	T	0.13764189	0.31861	0.2370088	0.48987	0.13764189	0.31861	0.2370088	0.48986	-2.873	0.08876	T	.	.	0.123	0.25721	B	.	.	1.987498	0.25252	16.69	0.99269707133131924	0.57525	0.29642	0.23875	N	AEFHCI	0.051504	0.09106	N	-0.679724582598656	0.16601	0.8472234	-0.903593119990411	0.12009	0.6152854	1.45639810336036E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.890000	0.27931	-0.046000	0.12607	0.295000	0.18837	0.001000	0.13787	0.001000	0.17328	0.061000	0.16044	.	.	.	882	0.29131	.	.	.	.	.	.	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	150.33	36	chr17	36166162	.	C	G	150.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.281;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.06;MQRankSum=-2.156e+00;QD=1.03;ReadPosRankSum=-2.130e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/1:126,20:146:99:164,0,3092	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	0/1:59,60:119:99:550,0,719	0	0	21	0
chr17	39742588	39742588	C	T	exonic	GRB7	.	nonsynonymous SNV	GRB7:NM_001030002:exon3:c.C178T:p.R60C	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.855	P	0.156	N	0.999	N	1.87	L	0.19	T	-0.696	T	0.298	T	0.439	0.376	6.041	4.13	1.135	0.715	13.654	0.169	0.112684722811	.	0.000199681	0.0003	0	8.643e-05	0	0.0002	0.0004	0.0011	0.0001	0.0002329	36	154602	rs61638836	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0053	7.557e-05	0.0001	0.0007	0.0001	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	9.056e-05	7.018e-05	0	0	0.0002	0.0035	0	9.425e-05	0	0.0002	0	0.0002	0.004	0.72154	D	0.003	0.79402	D	0.995	0.77913	D	0.677	0.60933	P	0.156225	0.17806	N	0.590531	0.999064	0.21661	N	2.435	0.70606	M	0.19	0.60236	T	-4.34	0.78976	D	0.489	0.54234	-0.6964	0.60610	T	0.298	0.66933	T	10	0.011388212	0.00249	T	0.112685	0.79092	D	0.169	0.43123	.	.	0.740631002128	0.73830	0.34236696209850515	0.34149	0.733179984162	0.62827	0.302884399891	0.10832	T	0.412822	0.83449	T	-0.206915	0.19816	T	-0.275317	0.47281	T	0.139545407109847	0.16235	T	0.940906	0.78138	D	0.1760244	0.38494	0.15793046	0.36905	0.1760244	0.38493	0.15793046	0.36904	-7.029	0.54753	T	.	.	0.213	0.44122	B	.;.;.;.;.;.	.;.;.;.;.;.	4.315466	0.66008	24.9	0.72944394408015711	0.10151	0.21934	0.21575	N	AEFBI	0.271607	0.38742	N	-0.0893298339603682	0.37860	2.208797	-0.261567858457869	0.29376	1.645269	0.999984037804085	0.51787	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.63947	0.58350	0	.	.	5.13	4.13	0.47661	0.657000	0.24647	4.078000	0.41716	0.599000	0.40250	0.020000	0.19661	0.999000	0.35428	0.215000	0.22324	0.1563:0.8437:0.0:0.0	13.654	0.61801	590	0.68897	.;.;.;.;.;.	.	.	.	.	.	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	1164.98	53	chr17	39742588	.	C	T	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=986;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.943e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/1:53,44:97:99:1179,0,1319	20	0	1	0
chr17	40993808	40993808	C	T	exonic	KRTAP3-3	.	nonsynonymous SNV	KRTAP3-3:NM_033185:exon1:c.G290A:p.G97D,	.	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.085	B	0.057	B	0.252	N	0.993	N	.	.	1.87	T	-1.039	T	0.053	T	0.214	-0.595	1.336	4.8	1.383	0.470	9.510	0.041	0.00280950989534	7.7e-05	0.000199681	0.0006	9.632e-05	0.0009	0	0	0.0004	0	0.0024	0.0005433	84	154602	rs368702159	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0027	0.0023	5.974e-05	0.0005	0.0008	0	0	0.0040	0.0002	0.0009	0.0024	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	0.0003	0.0012	0	0	0	0.0004	0.0019	0.0002	0.747	0.03620	T	0.152	0.32249	T	0.085	0.24868	B	0.057	0.26280	B	0.252389	0.15482	N	0.630917	0.992893	0.23807	N	.	.	.	1.87	0.24085	T	-0.82	0.22508	N	0.183	0.19861	-1.0386	0.17740	T	0.053	0.22307	T	9	0.013206512	0.00281	T	0.00281	0.05869	T	0.041	0.10877	.	.	0.314716216878	0.31082	0.09344851848870168	0.09276	0.34989876258	0.36836	0.30668258667	0.11406	T	0.005354	0.04800	T	-0.571177	0.00218	T	-0.599709	0.12835	T	0.0120510934403371	0.00191	T	.	.	.	0.048656538	0.08516	0.07998882	0.18057	0.048656538	0.08515	0.07998882	0.18056	-4.65	0.32794	T	.	.	0.085	0.10111	B	.	.	0.861408	0.12337	8.878	0.17646016997763231	0.00523	0.18353	0.20225	N	AEFGBI	0.072297	0.14424	N	-0.353712650571673	0.27136	1.48641	-0.290783467502863	0.28401	1.583308	0.00111137648523761	0.08239	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.79	4.8	0.61157	0.468000	0.21763	0.043000	0.13895	0.581000	0.30040	0.353000	0.25784	0.000000	0.08366	0.060000	0.15972	0.0:0.8968:0.0:0.1032	9.510	0.38234	213	0.91726	.	.	.	.	.	.	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	1737.98	34	chr17	40993808	.	C	T	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.800e-01;DP=887;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.07;MQRankSum=-7.950e-01;QD=11.43;ReadPosRankSum=1.25;SOR=0.817	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1752,0,2039	20	0	1	0
chr17	41350572	41350572	G	A	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon1:c.C196T:p.R66C,	.	.	410	1058	53	1	0	55	0.0253339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.000	D	1.000	D	2.935	M	-3.36	D	1.017	D	0.898	D	0.971	4.496	24.1	4.23	1.520	7.713	14.546	0.922	0.436287017873	0.0035	0.000798722	0.0043	0.0006	0.0037	0.0001	0.0008	0.0053	0.0055	0.0065	0.0040038	619	154602	rs140696036	0.0036	0.0036	0.0033	0.0038	0.0201	0.0035	0.0034	0.0171	0.0160	0.0005	0.0040	0.0231	5.038e-05	0.0009	0.0201	0.0030	0.0058	0.0061	0.0031	0.0031	0.0033	0.0029	0.0041	0.0028	0.0027	0.0033	0.0032	0.0006	0	0.0041	0.0236	0	0.0011	0.0034	0.0037	0.0071	0.0039	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.976	0.73562	D	0.000007	0.62929	D	0.000000	0.999999	0.58761	D	3.46	0.92336	M	-3.36	0.94067	D	-7.9	0.96191	D	0.976	0.98657	1.017	0.97482	D	0.898	0.96625	D	10	0.02853188	0.00984	T	0.436287	0.94078	D	0.922	0.98041	.	.	0.538421760271	0.53494	0.9097202378544089	0.90946	0.757084658312	0.64061	0.711831569672	0.68859	T	0.690892	0.91012	D	0.187443	0.72727	D	0.498946	0.94577	D	0.0767523785386575	0.09567	T	.	.	.	0.7987579	0.83826	0.78658015	0.87434	0.7987579	0.83828	0.78658015	0.87435	-9.252	0.69305	D	.	.	0.846	0.79557	P	.	.	5.387492	0.90267	31	0.9993401679230427	0.99535	0.99283	0.93924	D	AEFBI	0.909503	0.86623	D	0.807964928911192	0.86601	8.938252	0.733904308135246	0.84951	8.437471	0.683773634918903	0.22510	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.22	4.23	0.49319	8.096000	0.89369	6.317000	0.55438	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8528:0.1472	14.546	0.67619	150	0.94078	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4051.11	35	chr17	41350572	.	G	A	4051.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.07;DP=1254;ExcessHet=0.1072;FS=5.064;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.79;MQRankSum=0.629;QD=15.23;ReadPosRankSum=1.40;SOR=0.999	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1787,0,1320	19	0	2	0
chr17	41612360	41612360	T	A	exonic	KRT16	.	nonsynonymous SNV	KRT16:NM_005557:exon1:c.A329T:p.D110V,	Pachyonychia congenita 1, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, focal, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.1	B	0.036	B	0.019	N	0.998	N	0.345	N	-1.5	D	-0.834	T	0.245	T	0.232	0.235	5.266	-3.55	-0.550	0.565	13.437	0.208	0.047051497993	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208726114	6.841e-06	6.84e-06	5.445e-06	8.25e-06	7.194e-06	3.46e-06	2.52e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	3.312e-05	0	6.578e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.011	0.55530	D	0.019	0.59159	D	0.1	0.25713	B	0.036	0.22909	B	0.019219	0.27308	N	0.176243	0.998158	0.22321	N	2.215	0.62545	M	-1.5	0.81318	D	-5.09	0.82961	D	0.219	0.24510	-0.8337	0.53061	T	0.245	0.61366	T	10	0.14504978	0.27519	T	0.047051	0.62746	D	0.208	0.49714	.	.	0.26169431596	0.25797	0.8821383981802624	0.88181	0.44841457362	0.44671	0.245622083545	0.03321	T	0.353107	0.72045	T	-0.0753838	0.40462	T	-0.34606	0.39656	T	0.740497052669525	0.42764	D	0.546745	0.18722	T	0.2577745	0.48824	0.26231897	0.52022	0.2577745	0.48824	0.26231897	0.52021	-14.573	0.94770	D	0.3239939228707384	0.42214	0.594	0.68632	P	.	.	2.162080	0.27548	17.50	0.65803745349277232	0.07876	0.07454	0.13471	N	AEFBI	0.129780	0.24809	N	-1.28681846887349	0.03833	0.1719481	-1.35556205499314	0.03740	0.1751093	0.906931877092199	0.26245	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-3.55	0.04343	-0.034000	0.12176	-0.157000	0.11360	-0.133000	0.13014	0.000000	0.06391	0.003000	0.18671	0.003000	0.05239	0.0:0.1604:0.0:0.8396	13.437	0.60537	312	0.87382	.	.	.	.	.	.	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	2835.98	35	chr17	41612360	.	T	A	2835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.018e+00;DP=959;ExcessHet=0.0000;FS=1.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.73;MQRankSum=-2.760e-01;QD=12.12;ReadPosRankSum=-7.760e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:123,111:234:99:2850,0,3403	20	0	1	0
chr17	45115378	45115378	T	C	exonic	PLCD3	.	nonsynonymous SNV	PLCD3:NM_133373:exon9:c.A1526G:p.E509G,	.	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.001	B	0.137	N	1.000	N	.	.	-0.03	T	-1.048	T	0.111	T	0.234	0.694	7.704	1.95	0.550	2.009	4.630	0.050	0.00607007113588	0.0013	0.000998403	0.0034	0.0009	0.0007	0	0	0.0054	0.0029	0.0021	0.0001921	5	26028	rs201091708	0.0020	0.0020	0.0020	0.0020	0.0025	0.0019	0.0019	0.0023	0.0022	0.0004	0.0009	0.0001	0	0.0002	0.0025	0.0024	0.0016	0.0013	0.0016	0.0016	0.0017	0.0015	0.0028	0.0015	0.0014	0.0025	0.0024	0.0005	0	0.0017	0	0.0002	0	0	0.0028	0.0010	0.0013	.	.	.	0.128	0.34959	T	0.001	0.07471	B	0.001	0.04355	B	0.136918	0.18430	N	0.554792	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.276	0.31253	-1.0483	0.14875	T	0.111	0.39982	T	9	0.004010886	0.00078	T	0.00607	0.15875	T	.	.	.	.	0.33085137897	0.32697	0.28596511527058166	0.28509	.	.	0.414021372795	0.27013	T	0.169042	0.51627	T	-0.492702	0.00628	T	-0.478175	0.24641	T	0.0012408485801334	0.00012	T	0.375062	0.08943	T	0.10462618	0.24735	0.08688255	0.20157	0.10462618	0.24735	0.08688255	0.20157	-6.516	0.50410	T	.	.	0.068	0.02797	B	.	.	1.607074	0.20540	14.80	0.93778404646514868	0.23735	0.50954	0.28783	D	AEFBI	0.225374	0.34947	N	-0.761437026362282	0.14324	0.7126234	-0.793559396281998	0.14652	0.7667219	0.992846858212306	0.32989	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.03	1.95	0.25130	0.993000	0.29281	1.450000	0.26598	0.665000	0.62972	0.001000	0.13787	0.983000	0.30585	0.080000	0.17246	0.0:0.1151:0.1945:0.6904	4.630	0.11881	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	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	918.11	29	chr17	45115378	.	T	C	918.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.388e+00;DP=742;ExcessHet=0.1072;FS=3.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-8.360e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/1:19,18:37:99:436,0,522	19	0	2	0
chr17	47847984	47847984	T	G	exonic	SP6	.	nonsynonymous SNV	SP6:NM_001258248:exon2:c.A446C:p.Q149P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.03	B	0.004	B	0.001	D	0.987	D	1.04	L	3.0	T	-1.050	T	0.023	T	0.632	2.171	13.22	4.35	1.828	2.162	12.666	0.133	0.0120425842032	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1366176782	4.167e-06	4.788e-06	4.134e-06	4.2e-06	0.0005	1.5e-06	9.9e-07	0.0001	7.697e-05	0	0	0	0	0	0.0005	2.724e-06	0	0	1.315e-05	1.314e-05	1.286e-05	1.346e-05	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	0.249	0.17183	T	0.311	0.19660	T	0.03	0.20002	B	0.004	0.10090	B	0.000936	0.41028	D	0.000000	0.986599	0.40456	D	0.695	0.17993	N	3.0	0.09167	T	-1.3	0.32590	N	0.182	0.19728	-1.0503	0.14313	T	0.023	0.09741	T	10	0.14483336	0.27481	T	0.012043	0.30251	T	0.133	0.36157	0.275	0.22687	0.745843774664	0.74355	0.470068491341586	0.46925	0.933116055964	0.71916	0.808741509914	0.83299	D	0.125162	0.45068	T	-0.104618	0.35658	T	-0.388053	0.34780	T	0.349636912345886	0.27005	T	0.745725	0.36599	T	0.31800088	0.54470	0.39468765	0.64156	0.31800088	0.54470	0.39468765	0.64156	-2.018	0.03250	T	.	.	0.181	0.39288	B	.;.	.;.	3.214457	0.43774	21.8	0.9667344853464509	0.30672	0.80981	0.40484	D	AEFDBHCI	0.698721	0.65631	D	-0.222907517752408	0.32195	1.813093	-0.0641167960206687	0.36885	2.152401	0.999999936530653	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	4.35	4.35	0.51454	3.167000	0.50493	6.155000	0.54254	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.666	0.56206	324	0.86790	.;.	.	.	.	.	.	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	676.98	33	chr17	47847984	.	T	G	676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.248e+00;SOR=0.730	GT:AD:DP:GQ:PL	0/1:32,27:59:99:691,0,864	20	0	1	0
chr17	50538888	50538888	-	C	exonic	EPN3	.	frameshift insertion	EPN3:NM_017957:exon4:c.687dupC:p.A232Sfs*31,	.	.	406	1112	4	0	0	4	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0005	0.0001488	23	154602	rs773848705	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0002	9.091e-05	2.322e-05	0	0	1.887e-05	0.0007	0.0002	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.257e-05	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	604.94	26	chr17	50538888	.	T	TC	604.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.730;DP=728;ExcessHet=0.0000;FS=1.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.08;SOR=0.512	GT:AD:DP:GQ:PL	0/1:18,24:42:99:619,0,434	20	0	1	0
chr17	56981165	56981165	T	G	exonic	SCPEP1	.	nonsynonymous SNV	SCPEP1:NM_021626:exon2:c.T160G:p.W54G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.000	D	1.000	D	3.535	H	-2.33	D	0.925	D	0.845	D	0.969	4.485	24.0	5.84	2.231	7.352	14.788	0.913	0.320153073464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.895	0.96086	H	-2.33	0.87910	D	-12.03	0.99635	D	0.891	0.89020	0.925	0.96029	D	0.845	0.94829	D	10	0.9828249	0.98384	D	0.320153	0.91449	D	0.913	0.97700	0.908	0.98109	0.956158281397	0.95569	0.9578512702388418	0.95770	0.621136693719	0.56409	0.652670502663	0.60365	T	0.909318	0.98280	D	0.473237	0.93456	D	0.441996	0.93373	D	0.999727070331573	0.98678	D	0.929907	0.74113	D	0.98713696	0.99602	0.95667875	0.98789	0.98713696	0.99602	0.95667875	0.98789	-13.495	0.91299	D	.	.	0.882	0.81567	P	.;.;.	.;.;.	5.615645	0.92564	32	0.97953111618788735	0.37122	0.97915	0.78093	D	AEFDBI	0.926200	0.90693	D	0.95479390242763	0.94173	12.55634	0.891642385814117	0.95197	13.39912	0.999999999999168	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.599000	0.82008	7.711000	0.66806	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.788	0.69441	38	0.97995	.;.;.	.	.	.	.	.	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	1688.98	39	chr17	56981165	.	T	G	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.704;DP=867;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.182e+00;SOR=0.781	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1703,0,1594	20	0	1	0
chr17	60214624	60214624	C	T	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon17:c.G2018A:p.S673N,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.192	B	0.038	B	0.000	D	1.000	D	0.14	N	0.88	T	-1.082	T	0.046	T	0.316	1.983	12.59	5.39	2.539	5.994	19.155	0.107	0.0169414887257	0.0037	0.00359425	0.0025	0.0032	0.0029	0	0.0006	0.0034	0.0044	0.0002	0.0004334	67	154602	rs145100882	0.0029	0.0029	0.0029	0.0028	0.0034	0.0028	0.0028	0.0031	0.0031	0.0034	0.0030	0.0041	0	0.0006	0.0031	0.0032	0.0031	0.0005	0.0033	0.0033	0.0033	0.0034	0.0054	0.0031	0.0030	0.0045	0.0041	0.0036	0	0.0054	0.0075	0	0.0006	0	0.0034	0.0061	0.0004	0.439	0.09291	T	0.515	0.10643	T	0.192	0.29441	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	0.999935	0.51612	D	0.205	0.09354	N	0.88	0.64630	T	-0.27	0.11366	N	0.813	0.82862	-1.0819	0.06984	T	0.046	0.19879	T	10	0.0094648	0.00213	T	0.016941	0.38428	T	0.107	0.30369	.	.	0.406146819375	0.40232	0.4046660478698234	0.40382	1.92396519443	0.93020	0.841219186783	0.88280	D	0.019184	0.15329	T	-0.375461	0.03326	T	-0.314521	0.43171	T	0.024950035593921	0.01266	T	0.915408	0.69775	D	0.2175455	0.44241	0.17208616	0.39438	0.2175455	0.44241	0.17208616	0.39437	-8.417	0.63878	D	.	.	0.185	0.54477	B	.;.;.;.	.;.;.;.	3.829109	0.55335	23.6	0.95241863368645463	0.26487	0.96309	0.68510	D	AEFI	0.579273	0.58014	D	-0.0512052293758373	0.39548	2.33402	0.172975533842135	0.48370	3.053967	0.99233394173267	0.32802	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.39	5.39	0.77615	6.076000	0.70901	7.668000	0.64620	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.155	0.93491	704	0.57414	Ubiquitin-like domain, USP-type;Ubiquitin-like domain, USP-type;Ubiquitin-like domain, USP-type;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	613.98	34	chr17	60214624	.	C	T	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.52;MQRankSum=-2.876e+00;QD=9.16;ReadPosRankSum=0.281;SOR=0.656	GT:AD:DP:GQ:PL	0/1:40,27:67:99:628,0,900	20	0	1	0
chr17	63535774	63535774	T	G	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon6:c.T1207G:p.L403V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	1.865	L	-4.95	D	1.093	D	0.939	D	0.703	1.132	9.612	3.39	1.020	3.959	9.026	0.870	0.168911186946	.	.	2.477e-05	0	0	0	0	4.511e-05	0	0	2.59e-05	4	154602	rs555700503	2.257e-05	2.257e-05	1.906e-05	2.613e-05	2.878e-05	1.61e-05	1.416e-05	2.082e-05	1.782e-05	0	2.236e-05	0	0	0	0	2.878e-05	0	0	3.284e-05	3.283e-05	3.852e-05	2.688e-05	7.348e-05	1.26e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.001	0.91255	D	0.024	0.56640	D	0.999	0.77913	D	0.99	0.78936	D	0.000003	0.62929	D	0.000000	0.912948	0.48635	D	2.09	0.57893	M	-4.95	0.98428	D	-2.91	0.61284	D	0.7	0.70527	1.093	0.99374	D	0.939	0.97996	D	10	0.76275784	0.76472	D	0.168911	0.84688	D	0.870	0.96096	.	.	0.79706668669	0.79517	0.76571216505367	0.76520	0.688068891837	0.60415	0.868728458881	0.92386	D	0.800496	0.94908	D	0.18885	0.72858	D	0.213789	0.83859	D	0.431077328439979	0.30101	T	0.991201	0.97285	D	0.68783927	0.77394	0.6196035	0.77844	0.68783927	0.77396	0.6196035	0.77845	-11.427	0.85350	D	.	.	0.620	0.80562	P	.;.;.;.;.	.;.;.;.;.	3.484059	0.48668	22.7	0.85468584359486577	0.15912	0.89273	0.49638	D	AEFDGBI	0.788287	0.71782	D	0.320258816889986	0.57188	3.885372	0.228537709169651	0.51438	3.326202	0.999887425594265	0.44867	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.36	3.39	0.37919	4.167000	0.57999	0.885000	0.22426	-0.356000	0.05535	1.000000	0.71638	0.998000	0.33993	0.978000	0.57271	0.0:0.8171:0.0:0.1829	9.026	0.35392	816	0.41767	.;.;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1548.98	33	chr17	63535774	.	T	G	1548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.697e+00;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.771;SOR=0.645	GT:AD:DP:GQ:PL	0/1:91,65:156:99:1563,0,2656	20	0	1	0
chr17	63842470	63842470	C	A	exonic	SMARCD2	.	nonsynonymous SNV	SMARCD2:NM_001098426:exon1:c.G205T:p.A69S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.001	B	0.0	B	0.286	N	1.000	D	0.49	N	0.95	T	-1.095	T	0.060	T	0.293	3.091	16.32	3.36	1.171	0.889	10.306	0.044	0.256284214272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.474	0.12107	T	0.001	0.07471	B	0.0	0.01387	B	0.285958	0.14857	N	0.641330	0.845727	0.35139	D	0.345	0.11182	N	0.95	0.43279	T	0.04	0.06488	N	0.185	0.20129	-1.0947	0.04795	T	0.060	0.25237	T	10	0.09975335	0.26298	T	0.256284	0.89324	D	0.044	0.11924	0.162	0.06618	0.273495378476	0.26946	0.037918791273339525	0.03737	0.560178183246	0.52553	0.855686306953	0.90469	D	0.005031	0.37753	T	-0.188739	0.22443	T	-0.508887	0.21430	T	0.130136609077454	0.15394	T	0.429857	0.22547	T	0.15958463	0.35840	0.18164176	0.41040	0.15958463	0.35840	0.18164176	0.41040	-4.983	0.36655	T	.	.	0.063	0.02609	B	.;.;.	.;.;.	2.706754	0.35366	19.88	0.96844842672158193	0.31320	0.24835	0.22516	N	AEFDBHCIJ	0.117698	0.23045	N	-0.535740300288746	0.20933	1.107208	-0.3738662936547	0.25779	1.419767	0.999999987741251	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.36	3.36	0.37579	0.192000	0.16902	2.970000	0.35794	0.398000	0.20534	0.972000	0.34453	0.996000	0.32793	0.964000	0.52637	0.0:0.7993:0.2007:0.0	10.306	0.42862	857	0.34089	.;.;.	.	.	.	.	.	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	0.05556	31.47	5	chr17	63842470	.	C	A	31.47	.	AC=2;AF=0.056;AN=36;DP=115;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4687;MLEAC=1;MLEAF=0.028;MQ=60.00;QD=15.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	17	1	0	3
chr17	67959642	67959642	-	CCTCCAGCCCCTCCAGCCCCTCCAGCC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8028_8029insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2684_P2685insAPPAPPAPP	.	.	428	734	271	57	32	417	0.207771	.	.	1264390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.484e-05	0	0	0.0005	0	0.0003	0.0001153	3	26028	.	0.0022	0.0024	0.0023	0.0022	0.0074	0.0022	0.0021	0.0056	0.0049	0.0006	0.0003	0.0030	0	0.0008	0.0074	0.0025	0.0026	0.0008	0.0019	0.0021	0.0020	0.0018	0.0029	0.0017	0.0016	0.0026	0.0024	0.0007	0	0.0018	0.0026	0	0.0006	0.0145	0.0029	0.0025	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	13627.31	45	chr17	67959642	.	T	TCCTCCAGCC,TCCTCCAGCCCCTCCAGCCCCTCCAGCC	13627.31	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.749;DP=1382;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.25;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:46,24,0:70:99:840,0,1861,980,1933,2913	14	1	5	0
chr17	74541725	74541725	C	G	exonic	CD300C	.	nonsynonymous SNV	CD300C:NM_006678:exon4:c.G539C:p.S180T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.984	D	0.835	P	0.060	N	1.000	N	2.265	M	3.77	T	-1.072	T	0.029	T	0.133	1.374	10.52	2.68	1.267	-0.079	5.053	0.064	0.00393319799752	.	.	8.594e-06	0	0	0	0	0	0	6.175e-05	6.5e-06	1	154602	rs756766390	1.163e-05	1.163e-05	6.809e-06	1.651e-05	0.0002	7.09e-06	5.79e-06	0.0001	8.65e-05	0	0	0	0	0	0	8.996e-07	1.657e-05	0.0002	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.014	0.53172	D	0.035	0.52389	D	0.984	0.60733	D	0.835	0.59863	P	0.060137	0.22271	N	0.388031	1	0.08975	N	2.09	0.57893	M	3.77	0.03863	T	-2.24	0.50175	N	0.126	0.11912	-1.0717	0.09043	T	0.029	0.12453	T	10	0.15202978	0.28724	T	0.003933	0.09274	T	0.064	0.18567	0.377	0.39156	0.192905019026	0.18896	0.3249372805120886	0.32406	0.454903777487	0.45175	0.300647497177	0.10498	T	0.018008	0.14594	T	-0.440101	0.01292	T	-0.666351	0.07844	T	0.37496355175972	0.27989	T	0.379462	0.09138	T	0.08810559	0.20541	0.08477001	0.19526	0.08810559	0.20540	0.08477001	0.19525	-7.231	0.55703	T	.	.	0.109	0.20972	B	.	.	1.712487	0.21803	15.36	0.97815535748454341	0.36161	0.05103	0.10904	N	AEFDBI	0.045206	0.07365	N	-0.0581111149310517	0.39241	2.310902	-0.233665204178718	0.30339	1.707313	0.00998223022611051	0.11946	0.487112	0.14033	0	0.563428	0.19063	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.74	2.68	0.30839	0.407000	0.20770	-1.065000	0.06439	-0.242000	0.07441	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.2094:0.6849:0.0:0.1057	5.053	0.13858	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	1188.98	34	chr17	74541725	.	C	G	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-02;DP=804;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.750;SOR=0.803	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1203,0,1542	20	0	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:19,0,0,18,0:37:99:.:.:633,694,1476,694,1476,1476,0,782,782,728,694,1476,1476,782,1476	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:19,0,0,18,0:37:99:.:.:633,694,1476,694,1476,1476,0,782,782,728,694,1476,1476,782,1476	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:19,0,0,18,0:37:99:.:.:633,694,1476,694,1476,1476,0,782,782,728,694,1476,1476,782,1476	12	1	1	0
chr17	74949250	74949250	G	A	exonic	OTOP3	.	stopgain	OTOP3:NM_001272005:exon7:c.G1571A:p.W524X	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.702	36	4.45	2.031	9.407	17.077	.	.	0.0008	0.000199681	0.0009	0.0002	0.0004	0	0	0.0011	0.0011	0.0015	0.0008861	137	154602	rs138894640	0.0010	0.0010	0.0010	0.0010	0.0015	0.0010	0.0009	0.0012	0.0012	0.0002	0.0005	0.0031	0	9.365e-05	0.0002	0.0011	0.0008	0.0015	0.0007	0.0007	0.0008	0.0007	0.0017	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0012	0.0026	0	9.411e-05	0	0.0010	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.000106	0.50451	D	0.085847	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275823	0.80956	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	12.362906	0.99976	58	0.99663319850889853	0.78074	0.96648	0.70202	D	AEFBCI	0.346924	0.44158	N	0.837282746262068	0.88373	9.553849	0.688312703260124	0.81492	7.539125	0.999997929330282	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.45	4.45	0.53365	9.533000	0.97129	11.681000	0.94222	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	17.077	0.86465	929	0.16858	.;.	.	.	.	.	.	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	2608.98	33	chr17	74949250	.	G	A	2608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=1074;ExcessHet=0.0000;FS=1.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=4.000e-03;SOR=0.592	GT:AD:DP:GQ:PL	0/1:80,98:178:99:2623,0,2038	20	0	1	0
chr17	78121050	78121050	C	T	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon12:c.G1498A:p.D500N	Epidermodysplasia verruciformis, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.738	P	0.023	N	1.000	N	1.445	L	0.77	T	-0.260	T	0.365	T	0.082	1.846	12.13	3.93	2.010	1.390	15.725	0.117	0.200297886743	.	.	8.4e-06	0	0	0	0	1.537e-05	0	0	6.5e-06	1	154602	rs771079792	2.738e-06	3.42e-06	2.724e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.38	0.65728	T	0.073	0.48942	B	0.028	0.47728	B	0.022678	0.26589	N	0.412430	1	0.81001	D	2.17	0.60663	M	0.77	0.70833	T	-3.58	0.69118	D	0.329	0.37405	-0.2604	0.76077	T	0.365	0.72537	T	10	0.1809043	0.33296	T	0.200298	0.86700	D	0.117	0.32689	0.353	0.35246	0.273938319068	0.27005	0.09520068982967517	0.09452	0.469182032742	0.46230	0.328891336918	0.14766	T	0.135512	0.46737	T	-0.122152	0.32774	T	-0.413239	0.31852	T	0.882315456867218	0.53242	D	0.80392	0.58680	T	0.26321915	0.49386	0.24813187	0.50357	0.26321915	0.49386	0.24813187	0.50356	-8.478	0.64283	D	.	.	0.089	0.20934	B	.;.;.;.;.	.;.;.;.;.	2.598910	0.33727	19.43	0.98194344647934673	0.39062	0.49528	0.28454	N	AEFDGBCI	0.319763	0.42307	N	0.00946617069874074	0.42285	2.544892	0.00212218460073429	0.39815	2.366428	0.999999976101357	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.93	3.93	0.44666	3.277000	0.51358	3.774000	0.39765	0.596000	0.33519	0.992000	0.37556	0.999000	0.35428	0.600000	0.31387	0.0:1.0:0.0:0.0	15.725	0.77510	835	0.38313	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1542.98	34	chr17	78121050	.	C	T	1542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.428e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.666;SOR=0.665	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1557,0,1638	20	0	1	0
chr17	81239940	81239940	A	G	exonic	NDUFAF8	.	nonsynonymous SNV	NDUFAF8:NM_001353403:exon2:c.A34G:p.T12A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.52	74	chr17	81239940	.	A	G	34.52	.	AC=2;AF=0.071;AN=28;DP=74;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3566;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=17.26;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	13	1	0	7
chr17	81456493	81456493	G	C	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon16:c.G4766C:p.G1589A	.	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.038	B	0.022	B	0.894	N	1.000	N	1.265	L	1.86	T	-0.980	T	0.041	T	0.251	-0.221	2.930	-2.97	-0.229	0.178	5.863	0.023	0.028019301639	.	.	5.974e-05	0	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs782267112	2.469e-05	2.226e-05	2.683e-05	2.287e-05	0.0007	1.432e-05	1.12e-05	0.0002	0.0001	0	0	0	0	0	0.0007	2.513e-05	6.497e-05	1.592e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.257	0.23365	T	0.038	0.21002	B	0.022	0.19653	B	0.893820	0.07312	N	1.065200	1	0.08975	N	.	.	.	1.86	0.24285	T	-0.82	0.22508	N	0.085	0.06190	-0.9802	0.34955	T	0.041	0.17657	T	10	0.045243204	0.03574	T	0.028019	0.50755	D	0.023	0.04649	0.24	0.17218	0.0138822411134	0.00435	0.21954434511336082	0.21870	0.153732000618	0.17347	0.313986480236	0.12510	T	0.247488	0.61714	T	-0.33049	0.06075	T	-0.559197	0.16453	T	0.0660289241773486	0.08083	T	0.586041	0.21661	T	0.034115084	0.03767	0.044221245	0.05680	0.034115084	0.03767	0.044221245	0.05679	-3.522	0.16741	T	.	.	0.076	0.06069	B	.;.	.;.	0.280550	0.06573	3.064	0.58303643223588542	0.05963	0.04513	0.10139	N	AEFDBI	0.068256	0.13457	N	-1.29670629974667	0.03715	0.1664539	-1.37808737336819	0.03487	0.1627339	0.979033526138329	0.29984	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.463824	0.07026	1	.	.	4.14	-2.97	0.05195	-0.079000	0.11321	1.369000	0.25941	-0.122000	0.13826	0.000000	0.06391	0.015000	0.20450	0.002000	0.04165	0.0858:0.4451:0.3457:0.1234	5.863	0.18009	.	.	.;.	.	.	.	.	.	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	796.98	38	chr17	81456493	.	G	C	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.090e-01;DP=777;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=0.014;SOR=0.546	GT:AD:DP:GQ:PL	0/1:48,35:83:99:811,0,1244	20	0	1	0
chr17	81550334	81550334	G	A	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon3:c.C1160T:p.P387L,	.	.	422	1098	2	0	0	2	0.000909918	.	.	2370482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.883	P	0.158	B	0.093	N	1.000	N	1.59	L	1.51	T	-1.042	T	0.044	T	0.153	2.327	13.74	1.17	0.456	-0.051	5.716	0.055	0.00669370942764	.	.	6.01e-05	0.0001	0	0	0	9.5e-05	0	0	5.17e-05	8	154602	rs774616486	4.998e-05	4.994e-05	5.586e-05	4.404e-05	0.0010	4.062e-05	3.737e-05	0.0005	0.0003	2.987e-05	0.0002	0	2.519e-05	0	0.0010	4.407e-05	6.625e-05	4.638e-05	7.227e-05	7.223e-05	5.138e-05	9.415e-05	0.0007	3.971e-05	3.127e-05	0.0004	0.0003	2.413e-05	0	0.0007	0	0	0	0	0	0	0	0.357	0.12032	T	0.271	0.22291	T	0.883	0.48537	P	0.158	0.34617	B	0.093198	0.20236	N	0.496107	1	0.08975	N	1.995	0.54099	M	1.51	0.30937	T	-3.09	0.70553	D	0.117	0.10626	-1.0420	0.16711	T	0.044	0.18824	T	10	0.08248615	0.13620	T	0.006694	0.17671	T	0.055	0.15663	.	.	0.276898752692	0.27294	0.2431528970689813	0.24229	0.355051239597	0.37268	0.342267036438	0.16777	T	0.199113	0.55629	T	-0.41806	0.01760	T	-0.589981	0.13668	T	0.0769916698336601	0.09598	T	0.540746	0.18332	T	0.040081196	0.05654	0.046977483	0.06665	0.040081196	0.05653	0.046977483	0.06665	-4.795	0.34533	T	.	.	0.072	0.04159	B	.;.;.	.;.;.	1.022892	0.14027	10.59	0.93547833051062501	0.23378	0.11912	0.16941	N	AEFDBI	0.095229	0.19243	N	-0.48386864932096	0.22609	1.208439	-0.605206792767176	0.19358	1.038302	0.999925710543968	0.46280	0.67177	0.52595	0	0.672317	0.65289	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.24	1.17	0.19998	0.000000	0.12910	-0.118000	0.11753	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.282000	0.24066	0.1711:0.0:0.645:0.1839	5.716	0.17230	.	.	.;.;.	.	.	.	.	.	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	36	chr17	81550334	.	G	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e-01;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=1.35;SOR=0.732	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1502,0,1691	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	2/2:12,0,250:262:99:.:.:6882,6914,7121,599,805,0	3	2	4	0
chr18	9887405	9887414	CCAAGGAGGG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:7,250,0:260:99:1|1:9887403_GCC_G:7245,694,0,7738,1165,10722:9887403	7	3	4	6
chr18	9887406	9887414	CAAGGAGGG	-	exonic	TXNDC2	.	nonframeshift deletion	TXNDC2:NM_001098529:exon2:c.927_935del:p.K310_G312del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.676e-05	1.869e-05	1.541e-05	1.814e-05	5.184e-05	1.006e-05	7.98e-06	7.41e-06	5.4e-06	5.184e-05	0	0	3.629e-05	7.729e-05	0	1.466e-05	0	1.809e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:7,250,0:260:99:1|1:9887403_GCC_G:7245,694,0,7738,1165,10722:9887403	7	3	4	6
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,250,0:262:99:1|1:9887403_GCC_G:7259,687,0,7918,1330,11658:9887403	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:9,250,0:262:99:1|1:9887403_GCC_G:7259,687,0,7918,1330,11658:9887403	7	3	8	2
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:20,11:31:77:77,0,452	11	0	9	1
chr18	14763932	14763932	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon7:c.A1067G:p.E356G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.005	B	0.004	B	.	.	1.000	N	-0.205	N	1.52	T	-0.999	T	0.026	T	0.081	-1.960	0.007	-0.47	-0.738	-1.276	.	0.001	0.0122353406664	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189736829	1.372e-06	2.052e-06	1.364e-06	1.379e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.07330	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.52	0.30669	T	0.01	0.06868	N	0.036	0.01068	-0.9986	0.30311	T	0.026	0.11353	T	8	0.043631345	0.03233	T	0.012235	0.30616	T	0.001	0.00016	0.206	0.12216	0.0611884634855	0.05136	0.041265565778957326	0.04071	0.0311442194996	0.03231	0.493805766106	0.37967	T	0.002051	0.01461	T	-0.375597	0.03320	T	-0.777296	0.02536	T	0.0308144814612847	0.02116	T	0.264174	0.04286	T	0.027503526	0.01952	0.08654061	0.20057	0.027503526	0.01952	0.08654061	0.20057	-5.341	0.40347	T	.	.	0.141	0.30997	B	.	.	-0.280009	0.02706	0.354	0.33804021952212465	0.02033	0.00079	0.00540	N	AEFI	0.022788	0.01185	N	-1.64942167895752	0.01037	0.04500166	-1.72688737511905	0.01023	0.04590113	5.15593110392241E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-1.283000	0.02904	.	.	-2.489000	0.00267	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	1	0	0	0	0.04762	4248.11	37	chr18	14763932	.	A	G	4248.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.920e-01;DP=1008;ExcessHet=0.1072;FS=1.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=0.654;SOR=0.582	GT:AD:DP:GQ:PL	0/1:44,72:116:99:1967,0,1148	19	0	2	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	0/1:17,18:35:99:171,0,312	1	0	20	0
chr18	34879715	34879715	G	A	exonic	DTNA	.	nonsynonymous SNV	DTNA:NM_001198943:exon10:c.G1147A:p.D383N	Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	3123955	Left_ventricular_noncompaction_1	MONDO:MONDO:0011403,MedGen:C1858725,OMIM:604169,Orphanet:54260	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.948	D	0.002	N	1.000	D	0.695	N	2.26	T	-0.996	T	0.060	T	0.2	2.365	13.87	4.25	1.294	4.053	12.242	0.067	0.0116061941816	.	.	8.287e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs778924121	1.916e-05	1.915e-05	1.225e-05	2.613e-05	0.0010	1.328e-05	1.144e-05	0.0005	0.0003	5.975e-05	6.71e-05	0	0	0	0.0010	1.079e-05	1.656e-05	4.638e-05	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	0.02	0.91255	D	0.392	0.42261	T	0.745	0.64738	P	0.091	0.54860	B	0.002067	0.37317	N	0.267560	0.676062	0.33719	D	0.805	0.20218	L	2.23	0.18414	T	-0.8	0.22508	N	0.252	0.37197	-0.9960	0.31028	T	0.060	0.25090	T	10	0.14706224	0.27871	T	0.011606	0.29407	T	0.067	0.19503	0.257	0.19845	0.359294529755	0.35537	0.2106367304942179	0.20979	0.446009560045	0.44480	0.403208971024	0.25516	T	0.21879	0.58162	T	-0.321216	0.06798	T	-0.517653	0.20533	T	0.347344756126404	0.26914	T	0.986801	0.95481	D	0.065859266	0.14116	0.04226688	0.04993	0.065859266	0.14115	0.04226688	0.04993	-3.823	0.21178	T	0.14091245427346158	0.15807	0.072	0.12228	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.186979	0.43288	21.7	0.99658423393578266	0.77757	0.92047	0.54827	D	AEFI	0.332793	0.43209	N	-0.260597737568967	0.30683	1.713111	-0.285001691629128	0.28592	1.595399	0.999963976885734	0.48965	0.693126	0.56070	0	0.563428	0.19063	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	5.12	4.25	0.49658	4.122000	0.57661	8.611000	0.77769	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0795:0.0:0.9205:0.0	12.242	0.53863	851	0.35303	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	577.98	35	chr18	34879715	.	G	A	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=0.697;SOR=0.552	GT:AD:DP:GQ:PL	0/1:30,24:54:99:592,0,806	20	0	1	0
chr18	46105276	46105276	A	G	exonic	HAUS1	.	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.A113G:p.H38R,	.	.	454	1066	2	0	0	2	0.000937207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.078	B	0.033	B	0.023	N	1.000	N	1.1	L	.	.	-1.076	T	0.027	T	0.116	2.518	14.38	2.98	0.853	3.608	7.415	0.074	.	0.0085	0.00658946	0.0024	0.0257	0.0010	0	0	8.999e-05	0.0011	0.0002	0.0021863	338	154602	rs114001067	0.0007	0.0007	0.0008	0.0006	0.0237	0.0007	0.0007	0.0223	0.0218	0.0237	0.0013	3.827e-05	0	0	0.0023	5.307e-05	0.0017	9.275e-05	0.0067	0.0067	0.0070	0.0063	0.0228	0.0063	0.0062	0.0216	0.0211	0.0228	0	0.0035	0	0	0	0	0.0001	0.0028	0	0.018	0.50676	D	0.053	0.47336	T	0.078	0.24389	B	0.033	0.22329	B	0.023199	0.26489	N	0.443761	1	0.81001	D	1.905	0.50856	L	.	.	.	-3.24	0.65171	D	0.448	0.54409	-1.0761	0.08124	T	0.027	0.11574	T	9	0.0052914917	0.00116	T	.	.	.	0.074	0.21613	.	.	0.229264304666	0.22521	0.47974532840378037	0.47894	0.112426820879	0.12689	0.357190489769	0.18976	T	0.206745	0.56617	T	-0.503866	0.00544	T	-0.477621	0.24699	T	0.0202877158329974	0.00728	T	0.829117	0.49388	T	0.14885712	0.33964	0.24905397	0.50468	0.14885712	0.33964	0.24905397	0.50467	-2.126	0.03697	T	.	.	0.104	0.42273	B	.;.;.	.;.;.	3.234090	0.44118	21.9	0.97141731770233086	0.32547	0.70410	0.34579	D	AEFDGBCI	0.303270	0.41129	N	-0.217040135495136	0.32434	1.829133	-0.0700460620275244	0.36634	2.134532	0.999997131502984	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.4	2.98	0.33575	2.449000	0.44592	8.039000	0.76306	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.986000	0.61781	0.7795:0.1451:0.0754:0.0	7.415	0.26213	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	0.02381	987.98	35	chr18	46105276	.	A	G	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.643e+00;DP=795;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=1.04;SOR=0.590	GT:AD:DP:GQ:PL	0/1:53,44:97:99:1002,0,1449	20	0	1	0
chr18	47246885	47246885	C	G	exonic	SKOR2	.	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2299C:p.E767Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	.	.	.	.	.	.	1.000	D	0.695	N	-1.08	T	-0.418	T	0.350	T	0.16	0.991	9.046	4.35	2.272	3.313	13.913	0.212	0.34930389242	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896692419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.251	0.17069	T	0.4	0.15010	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.08	0.77078	T	-0.87	0.23590	N	0.229	0.25745	-0.4185	0.71440	T	0.350	0.71407	T	7	0.22317582	0.39088	T	0.349304	0.92225	D	0.212	0.50341	0.06	0.00210	0.283272178027	0.27931	0.1125741580534125	0.11185	0.944579039114	0.72368	0.690085291862	0.65719	T	.	.	.	-0.0810401	0.39547	T	-0.354185	0.38725	T	0.410286843776703	0.29329	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34927	B	.;.	.;.	2.916933	0.38706	20.8	0.95541194497080018	0.27190	0.73322	0.35867	D	AEFDBCI	0.216191	0.34146	N	0.0231676954860764	0.42909	2.594422	0.0635171190653749	0.42729	2.589672	0.991132522791556	0.32384	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.35	4.35	0.51454	3.741000	0.54810	5.712000	0.49429	0.524000	0.24156	0.988000	0.36536	1.000000	0.68203	0.149000	0.20271	0.0:1.0:0.0:0.0	13.913	0.63385	872	0.31118	.;.	.	.	.	.	.	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	1716.98	43	chr18	47246885	.	C	G	1716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.876;DP=919;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=1.36;SOR=0.798	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1731,0,1346	20	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.97	D	0.000	D	1.000	D	2.14	M	1.12	T	-0.636	T	0.251	T	0.859	4.345	22.9	5.97	2.288	9.339	15.443	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	998.11	35	chr18	51177112	.	A	G	998.11	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.966e+00;DP=1568;ExcessHet=1.7912;FS=106.025;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.704;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,12:121:94:0|1:51177112_A_G:94,0,4278:51177112	14	0	6	1
chr18	59225572	59225572	T	G	exonic	GRP	.	nonsynonymous SNV	GRP:NM_001012512:exon2:c.T220G:p.Y74D	.	.	434	1083	5	0	0	5	0.00230309	.	.	2350375	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.021	B	0.021	B	0.955	N	1.000	N	1.7	L	1.34	T	-0.961	T	0.064	T	0.52	1.574	11.22	-4.47	-1.090	0.258	1.182	0.040	0.00674750783151	0.0002	.	0.0002	0	0	0	0	0.0003	0	6.058e-05	0.0001229	19	154602	rs374866055	0.0001	0.0001	0.0001	0.0001	0.0042	9.536e-05	9.016e-05	0.0029	0.0024	0	4.472e-05	0.0026	0	0	0.0042	2.788e-05	0.0003	0.0002	8.547e-05	8.534e-05	0.0001	6.725e-05	0.0002	4.96e-05	3.965e-05	.	.	2.409e-05	0	6.547e-05	0.0020	0	0	0.0068	0	0.0005	0.0002	0.088	0.33585	T	0.018	0.61642	D	0.012	0.18474	B	0.009	0.19346	B	0.955312	0.08260	N	0.976842	1	0.08975	N	1.465	0.36909	L	1.3	0.35590	T	-5.71	0.87457	D	0.332	0.39760	-0.9607	0.39050	T	0.064	0.26632	T	10	0.01652065	0.00349	T	0.006748	0.17840	T	0.163	0.42028	.	.	0.297031009988	0.29315	0.4948388366197035	0.49404	0.312340773906	0.33537	0.368663668633	0.20640	T	0.373304	0.73732	T	-0.317592	0.07096	T	-0.434297	0.29448	T	0.046915277838707	0.04949	T	0.522748	0.17058	T	0.11569133	0.27297	0.2409287	0.49478	0.11569133	0.27296	0.2409287	0.49477	-2.939	0.13302	T	.	.	0.175	0.38336	B	.;.;.	.;.;.	0.833389	0.12048	8.604	0.7945276910553063	0.12748	0.04476	0.10088	N	AEFDBI	0.072157	0.14391	N	-1.0141051000883	0.08310	0.3892169	-1.13274943323984	0.07081	0.3431496	0.965595431093013	0.28842	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.03	-4.47	0.03278	0.362000	0.20020	-1.524000	0.05246	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.1265:0.2286:0.261:0.3839	1.182	0.01734	887	0.27948	.;.;.	.	.	.	.	.	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	1292.98	33	chr18	59225572	.	T	G	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=791;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.602;SOR=0.491	GT:AD:DP:GQ:PL	0/1:44,55:99:99:1307,0,937	20	0	1	0
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, 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	0.5	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,7:16:97:0|1:79373905_C_G:97,0,169:79373905	0	0	10	11
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.019	B	0.031	B	0.000	D	1.000	D	0.325	N	-1.0	T	-0.993	T	0.086	T	0.404	1.590	11.27	3.95	2.415	0.944	7.951	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, 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	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,7,0:16:97:0|1:79373905_C_G:97,0,169,123,189,312:79373905	4	0	7	9
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.682	P	0.361	B	0.000	D	1.000	D	0.83	L	-1.06	T	-0.935	T	0.119	T	0.428	2.268	13.54	3.95	2.415	0.944	7.951	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, 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	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,7,0:16:97:0|1:79373905_C_G:97,0,169,123,189,312:79373905	4	0	7	9
chr19	287703	287703	G	A	exonic	PLPP2	.	nonsynonymous SNV	PLPP2:NM_003712:exon3:c.C253T:p.R85C	.	.	430	1079	13	0	0	13	0.00598802	.	.	3185283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.899	P	0.003	N	1.000	D	2.175	M	1.41	T	-0.033	T	0.427	T	0.36	1.818	12.04	5.03	2.339	5.071	12.888	0.269	.	0.0053	0.00319489	0.0055	0.0012	0.0011	0	0.0083	0.0075	0.0100	0.0048	0.0052975	819	154602	rs61745392	0.0073	0.0073	0.0075	0.0072	0.0081	0.0072	0.0072	0.0080	0.0079	0.0012	0.0010	0.0110	2.519e-05	0.0090	0.0042	0.0081	0.0066	0.0050	0.0046	0.0046	0.0048	0.0043	0.0072	0.0043	0.0042	0.0067	0.0065	0.0011	0	0.0014	0.0081	0	0.0073	0	0.0072	0.0047	0.0050	0.01	0.56456	D	0.014	0.62352	D	1.0	0.90584	D	0.899	0.63802	P	0.002594	0.36278	N	0.301489	0.999784	0.50806	D	.	.	.	-0.96	0.75553	T	-4.29	0.76414	D	0.468	0.55886	-0.0327	0.81573	T	0.427	0.77048	T	10	0.009733021	0.00219	T	.	.	.	0.269	0.58381	.	.	0.883236127117	0.88209	0.8945985127888705	0.89430	1.14340301719	0.79003	0.414103150368	0.27024	T	0.397734	0.75602	T	-0.265803	0.12229	T	-0.150859	0.59167	T	0.0284881090014217	0.01760	T	0.759724	0.38410	T	0.26032472	0.49088	0.17647563	0.40184	0.26032472	0.49088	0.17647563	0.40183	-11.849	0.84108	D	.	.	0.107	0.38871	B	.;.;.;.;.	.;.;.;.;.	4.618677	0.73312	26.0	0.99827801071768196	0.91026	0.94292	0.60703	D	AEFDBI	0.755928	0.69535	D	0.560018066947519	0.70694	5.539335	0.501810052330444	0.68114	5.175376	0.971136005609381	0.29263	0.722319	0.85440	0	0.547309	0.14657	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	5.126000	0.64561	7.216000	0.57834	0.662000	0.56354	1.000000	0.71638	0.999000	0.35428	0.655000	0.32830	0.0:0.0:0.8368:0.1632	12.888	0.57446	988	0.01987	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2390.11	35	chr19	287703	.	G	A	2390.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=858;ExcessHet=0.1072;FS=1.945;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.31;SOR=0.536	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1193,0,1014	19	0	2	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	1/1:0,52,0,0:52:99:.:.:2098,147,0,2105,155,2113,2105,155,2113,2113	1	10	5	0
chr19	868108	868108	C	G	exonic	MED16	.	nonsynonymous SNV	MED16:NM_005481:exon16:c.G2627C:p.R876P,	.	.	425	1067	30	0	0	30	0.0138632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.146	B	0.011	B	0.042	N	1.000	N	0	N	1.36	T	-1.040	T	0.034	T	0.181	0.674	7.606	-1.68	-1.487	-1.920	5.483	0.011	.	0.0076	0.00399361	0.0090	0.0035	0.0029	0.0001	0.0038	0.0130	0.0088	0.0069	0.0081047	1253	154602	rs147510499	0.0095	0.0095	0.0094	0.0097	0.0133	0.0094	0.0093	0.0108	0.0103	0.0022	0.0037	0.0269	2.521e-05	0.0036	0.0133	0.0105	0.0083	0.0060	0.0075	0.0075	0.0074	0.0076	0.0119	0.0071	0.0070	0.0112	0.0109	0.0020	0.0066	0.0050	0.0239	0	0.0026	0.0102	0.0119	0.0118	0.0048	0.0	0.91255	D	0.025	0.56192	D	0.146	0.27821	B	0.011	0.15521	B	0.042390	0.01905	N	3.220600	1	0.08975	N	0	0.06538	N	1.36	0.34452	T	-0.05	0.07736	N	0.117	0.19325	-1.0405	0.17162	T	0.034	0.14552	T	10	0.0022740662	0.00033	T	.	.	.	0.011	0.01250	.	.	0.0482279557977	0.04254	0.3392394637746466	0.33836	.	.	0.239911496639	0.02783	T	0.033685	0.23013	T	-0.565992	0.00234	T	-0.575397	0.14959	T	0.00780645400498342	0.00091	T	0.268873	0.04498	T	0.1468006	0.33589	0.11648169	0.28118	0.1468006	0.33588	0.11648169	0.28117	-2.904	0.09183	T	.	.	0.088	0.54961	B	.;.;.	.;.;.	-0.013505	0.04192	1.017	0.83938401413453423	0.15004	0.02277	0.06569	N	AEFBCI	0.054650	0.09954	N	-1.71477409777989	0.00790	0.03415921	-1.82465292834229	0.00683	0.03041107	0.999943868519029	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	0.84	-1.68	0.07773	-0.534000	0.06238	-1.958000	0.04434	-2.637000	0.00226	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3511:0.0:0.6489	5.483	0.16026	994	0.00715	.;.;.	CFD	Whole_Blood	.	.	.	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	427.98	33	chr19	868108	.	C	G	427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.444;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=1.64;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,18:43:99:0|1:868108_C_G:442,0,680:868108	20	0	1	0
chr19	2939269	2939291	CACCACCCTTACCCAAGGAGGCA	0	exonic	ZNF77	.	.	.	.	.	542	911	21	2	46	71	0.0135355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1384.19	45	chr19	2939269	.	CACCACCCTTACCCAAGGAGGCA	*,C	1384.19	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.05;DP=2044;ExcessHet=0.0082;FS=4.200;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.54;MQRankSum=4.48;QD=2.58;ReadPosRankSum=-2.704e+00;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:22,58,74:154:99:1|0:2939235_GCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACA_G:3613,1401,2021,819,0,2418:2939235	18	0	2	0
chr19	4523613	4523613	C	T	exonic	PLIN5	.	nonsynonymous SNV	PLIN5:NM_001013706:exon8:c.G1307A:p.G436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.455	P	0.076	B	0.348	U	1.000	N	0.55	N	2.72	T	-0.992	T	0.013	T	0.225	2.404	14.00	-5.87	-0.327	-1.104	3.102	0.018	0.00696863771327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301943215	7.546e-06	7.524e-06	1.092e-05	4.138e-06	3.025e-05	4.05e-06	2.96e-06	3.81e-06	2.76e-06	3.025e-05	0	0	0	0	0	8.103e-06	1.66e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.04	0.42199	D	0.029	0.54541	D	0.455	0.36245	P	0.076	0.28435	B	0.347519	0.13867	U	0.593178	1	0.08975	N	1.32	0.33002	L	2.72	0.11947	T	-0.15	0.09297	N	0.161	0.16864	-0.9924	0.31985	T	0.013	0.04985	T	10	0.0777145	0.12298	T	0.006969	0.18458	T	0.018	0.03083	0.272	0.22210	0.16115917748	0.15686	0.16510025739991357	0.16430	0.296269785918	0.32015	0.373286962509	0.21303	T	0.007209	0.06625	T	-0.279391	0.10732	T	-0.639103	0.09734	T	0.129286572337151	0.15315	T	0.438156	0.12052	T	0.05325261	0.10051	0.0697988	0.14751	0.05325261	0.10051	0.0697988	0.14750	-3.933	0.22798	T	.	.	0.079	0.07224	B	.	.	0.227201	0.06087	2.532	0.89640925969431529	0.18972	0.03268	0.08306	N	AEFDGBHCI	0.158870	0.28459	N	-1.13664868835922	0.06002	0.2751796	-1.27251857214605	0.04805	0.2275724	0.999995963484123	0.74766	0.696267	0.57585	0	0.688826	0.66785	0	0.691665	0.62940	0	0.691587	0.68394	0	.	.	4.43	-5.87	0.02107	-0.396000	0.07338	-0.097000	0.11987	0.331000	0.19555	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5041:0.2608:0.14:0.0952	3.102	0.05949	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	0.02381	1852.98	33	chr19	4523613	.	C	T	1852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=815;ExcessHet=0.0000;FS=1.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=2.25;SOR=0.776	GT:AD:DP:GQ:PL	0/1:43,68:111:99:1867,0,940	20	0	1	0
chr19	7083547	7083547	C	T	exonic	ZNF557	.	nonsynonymous SNV	ZNF557:NM_001044387:exon8:c.C1096T:p.H366Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.892	P	.	.	1.000	N	3.855	H	-2.17	D	0.102	D	0.813	D	0.408	1.748	11.81	1.32	1.050	6.265	8.549	0.308	0.0167671570937	.	.	8.278e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs764790786	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.74150	D	0.998	0.73220	D	0.826	0.63276	P	.	.	.	.	0.999757	0.20482	N	3.46	0.92336	M	-2.17	0.86624	D	-6.0	0.89534	D	0.411	0.45142	0.102	0.84219	D	0.813	0.93701	D	9	0.72105336	0.73664	D	0.016767	0.38181	T	0.308	0.62947	0.715	0.85051	0.909513407726	0.90860	0.11405885459200515	0.11333	0.246522649584	0.27189	0.673878192902	0.63390	T	0.554181	0.84958	D	0.111981	0.65558	D	-0.0769228	0.65128	T	0.965709209442139	0.67350	D	0.867413	0.56831	D	0.28949997	0.51945	0.34895843	0.60528	0.28949997	0.51945	0.34895843	0.60528	-9.907	0.73365	D	.	.	0.960	0.88082	P	.;.	.;.	2.080799	0.26466	17.13	0.95224764204005263	0.26449	0.00026	0.00253	N	AEFDGBHCI	0.434996	0.49582	N	0.238884205364406	0.53093	3.479689	-0.0747164686180176	0.36438	2.120637	0.999977075651531	0.50053	0.460665	0.09802	0	0.552637	0.17590	0	0.486962	0.07600	0	0.636168	0.56350	0	.	.	1.32	1.32	0.20897	4.879000	0.62792	2.817000	0.34941	0.294000	0.18828	0.997000	0.40164	0.999000	0.35428	0.005000	0.06747	0.0:1.0:0.0:0.0	8.549	0.32598	946	0.12043	.;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	0	0	0	0	0.02381	1294.98	44	chr19	7083547	.	C	T	1294.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.694;DP=795;ExcessHet=0.0000;FS=3.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.334;SOR=0.797	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1309,0,1359	20	0	1	0
chr19	8073154	8073154	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon62:c.G7846A:p.G2616R	.	.	421	1080	21	0	0	21	0.00962861	.	.	728505	FBN3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.994	D	0.872	P	0.155	U	1.000	N	-0.33	N	-2.95	D	-0.285	T	0.506	D	0.171	1.079	9.404	2.06	0.259	-0.153	8.820	0.292	.	0.0054	0.00199681	0.0065	0.0010	0.0034	0	0.0117	0.0088	0.0078	0.0038	0.0063	974	154602	rs142418616	0.0076	0.0076	0.0077	0.0075	0.0084	0.0075	0.0074	0.0082	0.0082	0.0008	0.0029	0.0087	2.519e-05	0.0128	0.0052	0.0084	0.0062	0.0034	0.0049	0.0049	0.0048	0.0050	0.0073	0.0046	0.0045	0.0068	0.0066	0.0009	0.0022	0.0016	0.0066	0	0.0134	0.0034	0.0073	0.0033	0.0025	0.104	0.29959	T	0.109	0.37449	T	0.975	0.58077	D	0.768	0.56752	P	0.155159	0.17839	U	0.560283	1	0.08975	N	0.32	0.10341	N	-2.95	0.91903	D	-2.46	0.53736	N	0.197	0.28146	-0.2854	0.75393	T	0.506	0.81392	D	10	0.005774915	0.00129	T	.	.	.	0.292	0.61157	0.557	0.67547	0.74081485506	0.73849	0.5158238274866157	0.51505	0.761114285655	0.64272	0.411991000175	0.26732	T	0.151781	0.49188	T	-0.369907	0.03599	T	-0.297583	0.44978	T	0.0363183276733586	0.03037	T	0.450155	0.12692	T	0.19684997	0.41529	0.114007376	0.27517	0.19684997	0.41529	0.114007376	0.27517	-3.685	0.19097	T	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.438732	0.18577	13.81	0.97445608208339296	0.34002	0.09174	0.14982	N	AEFDBHCIJ	0.082163	0.16633	N	-0.566560742728089	0.19967	1.049155	-0.69816074903773	0.17006	0.9023293	0.999999920714553	0.74766	0.695654	0.57023	0	0.48864	0.07623	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	4.24	2.06	0.25932	-0.296000	0.08323	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.7637:0.1511:0.0852	8.820	0.34177	734	0.53889	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding 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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2880.98	68	chr19	8073154	.	C	T	2880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.602;DP=1267;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.33;ReadPosRankSum=2.79;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,76:129:99:0|1:8073154_C_T:2895,0,1874:8073154	20	0	1	0
chr19	8334003	8334003	G	T	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon5:c.C1541A:p.S514Y,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.681	P	0.371	B	.	.	1.000	N	1.5	L	1.62	T	-1.054	T	0.073	T	0.283	2.399	13.98	2.14	0.421	0.414	8.005	0.022	0.0305231919329	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452263683	4.992e-06	7.524e-06	1.412e-06	8.644e-06	0.0004	2.08e-06	1.34e-06	7.268e-05	3.021e-05	0	0	0	0	5.269e-05	0.0004	9.192e-07	0	2.476e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.022	0.58613	D	0.681	0.41422	P	0.371	0.43568	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	1.62	0.32722	T	-1.66	0.39692	N	0.237	0.26717	-1.0544	0.13198	T	0.073	0.29451	T	9	0.13614258	0.25903	T	0.030523	0.52819	D	0.022	0.04323	0.265	0.21103	0.404453528171	0.40057	0.156205849202821	0.15541	.	.	0.697434008121	0.66774	T	0.051456	0.43590	T	-0.0333782	0.46924	T	-0.285722	0.46216	T	0.234629211777509	0.22170	T	0.687031	0.29593	T	0.034728087	0.03952	0.05842535	0.10794	0.034728087	0.03952	0.05842535	0.10793	-9.285	0.69513	D	.	.	0.140	0.35456	B	.;.;.	.;.;.	1.645038	0.20990	15.00	0.95742532760347698	0.27702	0.16184	0.19270	N	AEFDBHCI	0.129338	0.24747	N	-0.504340532272225	0.21939	1.167986	-0.641318979910894	0.18437	0.984859	0.99923483702541	0.38840	0.562547	0.31514	0	0.627178	0.54094	0	0.64067	0.45733	0	0.635551	0.53088	0	.	.	4.36	2.14	0.26518	0.041000	0.13813	.	.	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.003000	0.05239	0.091:0.1616:0.7474:0.0	8.005	0.29482	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	1088.98	33	chr19	8334003	.	G	T	1088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.784e+00;DP=1069;ExcessHet=0.0000;FS=2.068;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=1.92;SOR=0.430	GT:AD:DP:GQ:PL	0/1:28,40:68:99:1103,0,743	20	0	1	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	0/1:207,83,36,0:332:99:.:.:3523,0,8679,1976,7421,10798,4171,9028,11004,13198	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	0/1:209,80,36:325:99:.:.:2733,0,8533,1850,7267,10518	1	0	19	0
chr19	9991816	9991816	G	A	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon23:c.C1919T:p.P640L,	.	.	424	1076	22	0	0	22	0.0101196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.859	P	0.000	D	1.000	D	2.565	M	-3.82	D	1.001	D	0.904	D	0.482	2.201	13.32	4.66	2.124	6.175	15.062	0.683	0.296443081361	0.0007	0.00119808	0.0010	9.666e-05	0.0003	0	0.0002	0.0010	0	0.0036	0.0009444	146	154602	rs151176273	0.0008	0.0008	0.0007	0.0009	0.0037	0.0008	0.0007	0.0025	0.0023	0.0002	0.0002	3.897e-05	0	3.761e-05	0.0037	0.0008	0.0008	0.0027	0.0007	0.0007	0.0007	0.0007	0.0058	0.0006	0.0005	0.0041	0.0036	0.0001	0	0.0001	0	0	0	0.0034	0.0010	0.0014	0.0058	0.054	0.38633	T	0.018	0.59732	D	0.999	0.77913	D	0.859	0.61184	P	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	2.86	0.83026	M	-3.82	0.95761	D	-7.23	0.94300	D	0.584	0.60495	1.001	0.97203	D	0.904	0.96809	D	10	0.025926322	0.00773	T	0.296443	0.90738	D	0.683	0.88396	.	.	0.804351698535	0.80252	0.29623743940503844	0.29536	0.105708572132	0.11951	0.653525233269	0.60486	T	0.408938	0.76412	T	-0.121212	0.32925	T	0.0488077	0.73506	D	0.200539408267616	0.20445	T	0.794521	0.43681	T	0.3363261	0.55986	0.39785033	0.64389	0.3363261	0.55986	0.39785033	0.64389	-7.423	0.57066	T	.	.	0.079	0.07365	B	.	.	4.291821	0.65461	24.8	0.9956156682471784	0.71831	0.01522	0.05020	N	AEFBCI	0.693747	0.65298	D	0.573008536735112	0.71492	5.659333	0.477590354732156	0.66506	4.961174	0.43948931293767	0.20441	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.66	4.66	0.57857	6.435000	0.73336	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:0.0:1.0:0.0	15.062	0.71625	918	0.19598	.	.	.	.	.	.	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	1468.98	35	chr19	9991816	.	G	A	1468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=856;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=1.23;SOR=0.764	GT:AD:DP:GQ:PL	0/1:37,53:90:99:1483,0,839	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	0/2:43,0,60:103:99:2229,2359,4102,0,1743,1562	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|1:79,44,0:123:99:0|1:12430718_C_A:1598,0,3152,1836,3285,5121:12430718	5	4	10	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	1/2:0,2,14,0,0,0,0:16:36:.:.:624,544,573,80,0,36,627,564,82,642,627,564,82,642,642,627,564,82,642,642,642,627,564,82,642,642,642,642	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	1/2:0,2,14,0,0,0,0:16:36:.:.:624,544,573,80,0,36,627,564,82,642,627,564,82,642,642,627,564,82,642,642,642,627,564,82,642,642,642,642	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	1/2:0,2,14,0,0,0,0:16:36:.:.:624,544,573,80,0,36,627,564,82,642,627,564,82,642,642,627,564,82,642,642,642,627,564,82,642,642,642,642	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	1/2:0,2,14,0,0,0,0:16:36:.:.:624,544,573,80,0,36,627,564,82,642,627,564,82,642,642,627,564,82,642,642,642,627,564,82,642,642,642,642	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	1/2:0,2,14,0,0,0,0:16:36:.:.:624,544,573,80,0,36,627,564,82,642,627,564,82,642,642,627,564,82,642,642,642,627,564,82,642,642,642,642	2	3	6	0
chr19	14655062	14655062	C	T	exonic	ADGRE3	.	nonsynonymous SNV	ADGRE3:NM_001289158:exon5:c.G341A:p.R114Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.005	B	0.001	B	.	.	1.000	N	-1.7	N	2.92	T	-0.910	T	0.006	T	0.047	-1.220	0.063	-2.8	-0.579	-0.605	8.017	0.012	0.00275363869599	0.0002	0.000199681	6.591e-05	0.0005	8.649e-05	0	0	1.498e-05	0	6.057e-05	5.82e-05	9	154602	rs147235913	4.173e-05	4.241e-05	4.628e-05	3.713e-05	0.0010	3.311e-05	3.001e-05	0.0007	0.0006	0.0010	2.236e-05	0	0	0	0.0002	1.079e-05	0.0001	8.116e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	2.92	0.09915	T	1.75	0.00728	N	0.159	0.16586	-0.9098	0.46879	T	0.006	0.02093	T	9	0.017352313	0.00370	T	0.002754	0.05694	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.07610563573250735	0.07546	0.159749721989	0.18028	0.189997524023	0.00225	T	5.57E-4	0.00219	T	-0.717507	0.00029	T	-0.886457	0.00603	T	0.0089885121888617	0.00112	T	0.30317	0.05747	T	0.018241463	0.00345	0.037181057	0.03318	0.018241463	0.00345	0.037181057	0.03318	-3.64	0.18437	T	.	.	0.067	0.02399	B	.;.	.;.	-0.725324	0.01263	0.066	0.32274455508986311	0.01861	0.00061	0.00447	N	AEFBI	0.021137	0.00909	N	-1.9795056393729	0.00234	0.01003452	-1.92944458699501	0.00428	0.01891902	3.44951454819653E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.64	-2.8	0.05477	-0.291000	0.08379	.	.	-2.776000	0.00191	0.030000	0.20431	0.002000	0.18203	0.000000	0.00833	0.0:0.4226:0.0:0.5774	8.017	0.29548	958	0.09170	.;GAIN domain, 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	1	0	0	0	0.02381	1127.98	35	chr19	14655062	.	C	T	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.254;SOR=0.706	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1142,0,1229	20	0	1	0
chr19	16952051	16952051	-	AGTCCACGAAGAAGGGCTTGAAGGTCTTCAGCAGGG	exonic	CPAMD8	.	nonframeshift insertion	CPAMD8:NM_015692:exon20:c.2425_2426insCCCTGCTGAAGACCTTCAAGCCCTTCTTCGTGGACT:p.D808_F809insSLLKTFKPFFVD,	Anterior segement dysgenesis 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2114.94	34	chr19	16952051	.	A	AAGTCCACGAAGAAGGGCTTGAAGGTCTTCAGCAGGG	2114.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.14;ReadPosRankSum=-2.324e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:50,55:105:99:2129,0,1887	20	0	1	0
chr19	17102390	17102390	A	G	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon2:c.A673G:p.T225A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.008	B	0.121	N	0.880	N	-0.7	N	-2.16	D	-0.815	T	0.231	T	0.032	-0.193	3.060	1.83	0.633	1.356	5.568	0.127	0.0416193277103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	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	6.568e-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	.	.	.	.	.	.	0.121404	0.18997	N	0.440604	0.879713	0.28070	N	-0.965	0.01239	N	-2.16	0.86549	D	1.09	0.01246	N	0.039	0.01274	-0.8150	0.54244	T	0.231	0.59707	T	10	0.05293876	0.05406	T	0.041619	0.60024	D	0.127	0.34888	0.422	0.46529	0.168254554758	0.16434	0.5273786756027093	0.52661	0.716506363215	0.61995	0.441761016846	0.30818	T	0.19453	0.55033	T	-0.177758	0.24070	T	-0.493113	0.23065	T	0.0284197117740509	0.01750	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	-2.138	0.03750	T	.	.	0.049	0.00125	B	.;.;.;.	.;.;.;.	0.593132	0.09614	6.389	0.48559236615087564	0.04062	0.40174	0.26378	N	AEFBCI	0.053435	0.09629	N	-0.879021417472396	0.11343	0.5468719	-0.642114206809549	0.18416	0.9836849	0.184151291093735	0.17912	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	1.83	0.24279	1.722000	0.37665	1.027000	0.23450	-0.137000	0.12594	0.943000	0.32764	0.332000	0.24378	0.987000	0.62547	0.558:0.0:0.442:0.0	5.568	0.16466	964	0.07719	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class IX myosin, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class IX 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	1	0	0	0	0.02381	1759.98	34	chr19	17102390	.	A	G	1759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=882;ExcessHet=0.0000;FS=3.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-1.441e+00;SOR=0.450	GT:AD:DP:GQ:PL	0/1:89,73:162:99:1774,0,2239	20	0	1	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	0|2:17,0,5,0:22:66:0|1:17286670_G_T:66,117,624,0,507,493,117,624,507,624:17286670	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	1/2:0,5,11:16:66:.:.:606,339,491,113,0,66	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	1/1:0,16,0:16:83:.:.:1110,83,0,947,101,1000	0	10	3	0
chr19	18258063	18258063	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3221A:p.R1074H	.	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.092	B	0.002	B	0.158	N	1.000	N	0.55	N	3.99	T	-0.962	T	0.007	T	0.205	0.984	9.016	1.52	0.662	0.761	7.229	0.073	.	0.0038	0.00299521	0.0047	0.0012	0.0047	0.0001	0.0002	0.0066	0.0092	0.0034	0.0042884	663	154602	rs141048177	0.0041	0.0041	0.0040	0.0042	0.0265	0.0040	0.0040	0.0231	0.0218	0.0014	0.0049	0.0208	2.519e-05	0.0003	0.0265	0.0040	0.0053	0.0035	0.0036	0.0036	0.0038	0.0033	0.0054	0.0033	0.0032	0.0045	0.0041	0.0010	0	0.0054	0.0216	0	0.0003	0.0374	0.0043	0.0104	0.0037	0.163	0.23450	T	0.095	0.48336	T	0.092	0.25296	B	0.002	0.06944	B	0.157719	0.03014	N	1.971570	1	0.08975	N	.	.	.	3.94	0.03597	T	-0.59	0.17624	N	0.075	0.11626	-0.9618	0.38839	T	0.007	0.02518	T	10	0.0044397414	0.00091	T	.	.	.	0.073	0.21317	.	.	0.0138822411134	0.00435	0.45776120767345174	0.45694	0.222400704968	0.24772	0.377672582865	0.21925	T	0.021313	0.16617	T	-0.62893	0.00097	T	-0.674686	0.07311	T	0.00170340232547441	0.00017	T	0.509649	0.16214	T	0.028322374	0.02152	0.030063309	0.01416	0.028322374	0.02151	0.030063309	0.01415	-5.103	0.40376	T	.	.	0.105	0.19559	B	.;.;.;.	.;.;.;.	1.248499	0.16447	12.55	0.94216204161609229	0.24461	0.05184	0.11004	N	AEFDBCI	0.064026	0.12409	N	-1.13637647039827	0.06007	0.2754035	-1.18334913895505	0.06187	0.2970505	1.35823505308899E-4	0.05486	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.58	1.52	0.22158	0.373000	0.20215	0.117000	0.14863	-0.881000	0.02461	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3029:0.6971:0.0	7.229	0.25209	871	0.31377	.;.;.;.	.	.	.	.	.	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	2018.11	33	chr19	18258063	.	C	T	2018.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.56;DP=889;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.320e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:56,37:93:99:930,0,1339	19	0	2	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70,0:70:99:1|1:20624371_G_GA:3127,211,0,3127,211,3127:20624371	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,71,0:71:99:1|1:20624371_G_GA:3096,210,0,3096,210,3096:20624371	0	4	3	7
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2164.49	46	chr19	21383393	.	G	T,*	2164.49	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=0.252;DP=1021;ExcessHet=0.1217;FS=4.260;InbreedingCoeff=0.2222;MLEAC=3,3;MLEAF=0.071,0.071;MQ=59.82;MQRankSum=0.00;QD=6.66;ReadPosRankSum=0.637;SOR=0.514	GT:AD:DP:GQ:PL	0/2:42,0,35:77:99:1330,1457,3194,0,1737,1620	16	0	2	0
chr19	23222731	23222731	G	A	exonic	ZNF724	.	nonsynonymous SNV	ZNF724:NM_001355404:exon4:c.C1514T:p.P505L	.	.	428	1089	4	1	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.856	P	0.394	B	.	.	0.997	D	.	.	2.3	T	-1.077	T	0.035	T	0.238	2.469	14.21	1.08	0.482	4.743	4.601	0.151	0.00235868783148	.	0.000199681	0.0009	0.0002	0.0025	0	0.0002	0.0010	0.0023	0.0002	0.0007374	114	154602	rs183425731	0.0006	0.0006	0.0006	0.0006	0.0044	0.0005	0.0005	0.0031	0.0026	0.0002	0.0012	0.0055	0	5.767e-05	0.0044	0.0005	0.0011	0.0001	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0002	0.0033	0.0014	0.0060	0	0	0	0.0007	0.0009	0.0002	0.059	0.37536	T	0.037	0.51737	D	0.856	0.47190	P	0.394	0.44277	B	.	.	.	.	0.99748	0.43926	D	.	.	.	2.3	0.16953	T	-7.53	0.95131	D	0.21	0.23380	-1.0772	0.07901	T	0.035	0.14943	T	8	0.009216875	0.00208	T	0.002359	0.04590	T	0.151	0.39764	.	.	0.438701194649	0.43488	0.016223407822603078	0.01578	0.572525695287	0.53339	.	.	.	0.146277	0.48380	T	-0.496552	0.00598	T	-0.521417	0.20151	T	0.0963786890783795	0.11954	T	0.126787	0.00989	T	0.15778415	0.35534	0.21991439	0.46748	0.15778415	0.35534	0.21991439	0.46747	-6.822	0.52722	T	.	.	0.390	0.58988	A	.	.	2.157585	0.27483	17.48	0.99460012781796991	0.65736	0.79423	0.39353	D	AEFBCI	0.152597	0.27731	N	0.048457945503461	0.44072	2.687953	-0.032323550132101	0.38264	2.251887	2.20926905466135E-4	0.05997	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	1.08	1.08	0.19456	4.982000	0.63547	.	.	0.239000	0.18229	1.000000	0.71638	0.000000	0.08366	0.949000	0.49496	0.2333:0.0:0.7667:0.0	4.601	0.11746	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2080.98	47	chr19	23222731	.	G	A	2080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.110e-01;DP=2144;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=-9.320e-01;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,60:128:99:0|1:23222731_G_A:2095,0,2464:23222731	20	0	1	0
chr19	23653444	23653444	T	C	exonic	ZNF675	.	nonsynonymous SNV	ZNF675:NM_138330:exon4:c.A1489G:p.T497A,	.	.	433	1087	2	0	0	2	0.000919118	.	.	3354663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.019	B	0.014	B	.	.	1.000	N	-0.495	N	2.29	T	-0.982	T	0.015	T	0.031	-1.677	0.012	0.886	0.257	-2.565	1.448	0.013	0.000747697054204	0.0002	0.000199681	0.0004	0.0001	0.0002	0	0	0.0005	0.0022	0.0004	0.0003493	54	154602	rs147297608	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0004	0.0004	2.987e-05	6.714e-05	0	0	0	0.0009	0.0004	0.0003	0.0004	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.75e-05	0.0001	0.0001	7.255e-05	0	0.0003	0	0	0	0	0.0002	0	0	0.113	0.28772	T	0.395	0.15255	T	0.019	0.17989	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	2.29	0.17113	T	-1.47	0.35991	N	0.028	0.00618	-0.9817	0.34608	T	0.015	0.06042	T	9	0.033495873	0.01528	T	7.48E-4	0.00529	T	0.013	0.01715	.	.	0.0920862733494	0.08535	0.010185291196648637	0.00980	0.0204523279217	0.02011	0.334325790405	0.15586	T	0.006303	0.05736	T	-0.642291	0.00081	T	-0.830381	0.01255	T	0.010980476202643	0.00158	T	0.466353	0.13696	T	0.032577023	0.03311	0.04078023	0.04486	0.032577023	0.03310	0.04078023	0.04486	-5.387	0.40794	T	.	.	0.099	0.16582	B	.	.	0.212369	0.05959	2.398	0.52421078818015743	0.04745	0.00500	0.02358	N	AEFBCI	0.014887	0.00256	N	-1.26612999487781	0.04091	0.1839727	-1.30303719517648	0.04390	0.2069976	9.94591867481728E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.886	0.886	0.18329	-1.242000	0.03018	.	.	0.238000	0.18221	0.000000	0.06391	0.002000	0.18203	0.008000	0.08271	0.3179:0.244:0.0:0.4381	1.448	0.02224	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1158.98	33	chr19	23653444	.	T	C	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=781;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=0.925;QD=11.59;ReadPosRankSum=1.67;SOR=0.907	GT:AD:DP:GQ:PL	0/1:55,45:100:99:1173,0,1496	20	0	1	0
chr19	32996094	32996094	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon11:c.G1352A:p.R451Q,	.	.	.	.	.	.	.	.	.	.	.	3483056	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.046	B	0.007	B	0.024	N	1.000	N	0.49	N	2.41	T	-1.011	T	0.019	T	0.09	1.372	10.51	-0.709	0.050	0.398	4.739	0.054	0.00712084965663	7.7e-05	0.000199681	9.071e-05	0	0	0.0002	0	3.001e-05	0	0.0004	7.76e-05	12	154602	rs374206352	3.9e-05	3.899e-05	3.131e-05	4.676e-05	0.0004	3.047e-05	2.783e-05	0.0003	0.0003	0	0	0	7.557e-05	0	0	1.529e-05	1.656e-05	0.0004	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.981e-05	0	0	0	0	0.0002	0	0	0	0	0.0006	0.241	0.17643	T	0.22	0.25907	T	0.046	0.21875	B	0.007	0.12992	B	0.024112	0.26321	N	0.431386	0.999997	0.08975	N	0.51	0.13489	N	2.41	0.15492	T	-0.14	0.09135	N	0.112	0.09914	-1.0109	0.26635	T	0.019	0.07893	T	10	0.025955558	0.00775	T	0.007121	0.18869	T	0.054	0.15330	.	.	0.242244723065	0.23846	0.21334737960487213	0.21250	0.382972438731	0.39630	0.18659734726	0.00171	T	0.018194	0.14708	T	-0.566837	0.00231	T	-0.715739	0.05003	T	0.0460753022834534	0.04797	T	0.783822	0.42110	T	0.04721303	0.08032	0.0409682	0.04550	0.04721303	0.08031	0.0409682	0.04549	-6.751	0.52193	T	.	.	0.071	0.03811	B	.	.	1.400714	0.18148	13.57	0.98884233796617482	0.47877	0.03861	0.09220	N	AEFGBI	0.058593	0.11005	N	-0.821474645837258	0.12762	0.6241763	-0.778429375995421	0.15023	0.7880734	0.0129595430551048	0.12397	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.86	-0.709	0.10671	0.215000	0.17352	-1.126000	0.06253	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.345000	0.25546	0.1788:0.3852:0.0:0.436	4.739	0.12378	688	0.59122	BRO1 domain|BRO1 domain|BRO1 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	894.98	35	chr19	32996094	.	C	T	894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=-1.476e+00;QD=9.94;ReadPosRankSum=-3.460e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:54,36:90:99:909,0,1344	20	0	1	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K,	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1023	424	67	8	566	0.214286	.	.	142703	not_specified|Brugada_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.005	B	.	.	1.000	N	.	.	-2.5	D	-0.696	T	0.422	T	0.055	1.698	11.64	1.84	0.750	0.862	5.129	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	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	1	0	0.1429	11159.49	111	chr19	35034040	.	G	C,A	11159.49	.	AC=4,2;AF=0.095,0.048;AN=42;BaseQRankSum=-5.360e-01;DP=1237;ExcessHet=1.7912;FS=0.520;InbreedingCoeff=-0.1667;MLEAC=4,2;MLEAF=0.095,0.048;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-2.200e-02;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,52,0:98:99:0|1:35034035_C_A:1979,0,1773,2117,1929,4047:35034035	15	0	4	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,20:53:99:.:.:743,842,2206,0,1364,1298	13	0	1	0
chr19	35940494	35940494	G	A	exonic	LRFN3	.	nonsynonymous SNV	LRFN3:NM_024509:exon2:c.G1069A:p.E357K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.011	B	0.019	B	0.002	N	0.841	N	0.4	N	1.71	T	-1.101	T	0.033	T	0.395	1.730	11.74	3.51	2.381	0.637	5.416	0.085	0.0354340731409	.	.	0.0001	0	0.0002	0.0001	0	0	0.0028	0.0006	9.06e-05	14	154602	rs751331252	8.225e-05	8.345e-05	4.91e-05	0.0001	0.0010	7.016e-05	6.565e-05	0.0008	0.0007	0	2.245e-05	0	0	0	0	2.879e-05	8.296e-05	0.0010	4.598e-05	4.596e-05	2.569e-05	6.722e-05	0.0008	2.109e-05	1.526e-05	0.0003	0.0002	0	0	6.541e-05	0	0.0002	0	0	1.47e-05	0	0.0008	0.035	0.43708	D	0.077	0.42436	T	0.011	0.15914	B	0.019	0.18783	B	0.002349	0.36727	N	0.000000	0.840691	0.28635	N	0.49	0.13296	N	1.71	0.26737	T	-0.2	0.10136	N	0.244	0.28028	-1.1011	0.03961	T	0.033	0.14117	T	10	0.027206779	0.00871	T	0.035434	0.56343	D	0.085	0.24743	0.556	0.67409	0.324576393752	0.32066	0.5590103974890667	0.55828	0.870241491543	0.69372	0.577299952507	0.49705	T	0.005835	0.05277	T	-0.434406	0.01395	T	-0.464247	0.26139	T	0.0307933017611504	0.02113	T	0.483352	0.14674	T	0.04646985	0.07784	0.05984852	0.11301	0.04646985	0.07783	0.05984852	0.11300	-6.783	0.52433	T	.	.	0.216	0.44553	B	.;.	.;.	2.759943	0.36197	20.2	0.99687181929551294	0.79641	0.25230	0.22636	N	AEFDBI	0.121843	0.23671	N	-0.465887854224109	0.23204	1.244473	-0.348555330005996	0.26554	1.467463	0.0441053848336079	0.14598	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.6	3.51	0.39297	0.431000	0.21163	5.120000	0.47580	-0.177000	0.10537	0.005000	0.17040	1.000000	0.68203	0.880000	0.42090	0.2234:0.0:0.7766:0.0	5.416	0.15675	787	0.46738	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	497.98	40	chr19	35940494	.	G	A	497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.260e+00;DP=760;ExcessHet=0.0000;FS=1.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=0.878;SOR=0.399	GT:AD:DP:GQ:PL	0/1:16,19:35:99:512,0,464	20	0	1	0
chr19	36009376	36009376	C	A	exonic	ALKBH6	.	nonsynonymous SNV	ALKBH6:NM_032878:exon7:c.G715T:p.A239S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.99	D	0.936	D	.	.	1.000	D	0.11	N	.	.	-0.921	T	0.144	T	0.386	4.154	21.5	4.48	1.321	2.782	11.863	0.136	0.0571045517868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.798e-06	1.368e-05	1.716e-06	1.888e-06	3.365e-05	3e-07	1.1e-07	.	.	0	0	0	0	4.296e-05	0	0	0	3.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.05031	T	0.667	0.06738	T	0.949	0.63424	P	0.57	0.67150	P	.	.	.	.	0.923	0.81001	D	0.635	0.15989	N	.	.	.	0.53	0.02808	N	0.129	0.12341	-0.9210	0.45417	T	0.144	0.46641	T	8	0.15831658	0.29773	T	0.057105	0.66846	D	0.136	0.36778	0.287	0.24601	0.371531589858	0.36766	0.4047141500932037	0.40387	2.18073481268	0.95573	0.690184056759	0.65733	T	0.006118	0.05559	T	-0.0554183	0.43619	T	-0.317381	0.42862	T	0.635153591632843	0.37833	D	0.787021	0.42574	T	0.0841045	0.19450	0.0738741	0.16102	0.0841045	0.19450	0.0738741	0.16101	-3.587	0.17669	T	.	.	0.079	0.07272	B	.;.	.;.	3.054455	0.41000	21.3	0.99440072264835622	0.64720	0.81235	0.40682	D	ALL	0.658910	0.63002	D	0.0463831049159649	0.43976	2.680191	0.0932338512386881	0.44209	2.706973	1.0	0.98316	0.789315	0.99827	0	0.594344	0.48745	0	0.768056	0.98339	0	0.618803	0.45993	0	.	.	5.51	4.48	0.53973	2.135000	0.41735	3.862000	0.40142	0.597000	0.34315	0.826000	0.30074	1.000000	0.68203	0.381000	0.26357	0.0:0.9153:0.0:0.0847	11.863	0.51756	744	0.52588	.;Alpha-ketoglutarate-dependent dioxygenase AlkB-like|Oxoglutarate/iron-dependent dioxygenase	.	.	.	.	.	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	150.98	22	chr19	36009376	.	C	A	150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.88;ReadPosRankSum=0.201;SOR=1.112	GT:AD:DP:GQ:PL	0/1:11,6:17:99:165,0,275	20	0	1	0
chr19	37363383	37363383	T	C	exonic	ZNF875	.	nonsynonymous SNV	ZNF875:NM_001329773:exon4:c.T1408C:p.C470R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.935	H	-2.05	D	0.757	D	0.809	D	0.889	2.552	14.49	2.58	1.433	6.612	10.350	0.636	0.0340206529056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999998	0.81001	D	4.135	0.97499	H	-2.05	0.85799	D	-11.47	0.99449	D	0.676	0.72209	0.757	0.93884	D	0.809	0.93554	D	9	0.9204794	0.91403	D	0.034021	0.55387	D	0.636	0.86078	0.738	0.87063	0.89265337133	0.89159	0.22891025975944262	0.22806	0.289271763004	0.31336	0.774953901768	0.78166	T	0.436478	0.80800	T	0.424562	0.91256	D	0.372078	0.91147	D	0.998771131038666	0.95127	D	0.754025	0.37642	T	0.93288463	0.94526	0.8844643	0.93876	0.93288463	0.94527	0.8844643	0.93876	-10.981	0.79554	D	.	.	0.918	0.87293	P	.;.;.;.;.;.	.;.;.;.;.;.	3.527942	0.49482	22.8	0.99659418927396026	0.77820	0.98760	0.86500	D	AEFDBI	0.789416	0.71861	D	0.683429757904828	0.78549	6.893645	0.47970057852637	0.66645	4.979275	0.999999926168804	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.58	2.58	0.30011	5.090000	0.64332	.	.	0.659000	0.54702	1.000000	0.71638	0.912000	0.28152	0.819000	0.38590	0.0:0.0:0.0:1.0	10.350	0.43109	689	0.59000	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	2224.98	35	chr19	37363383	.	T	C	2224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.980e-01;DP=1401;ExcessHet=0.0000;FS=3.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-4.580e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/1:105,89:194:99:2239,0,2879	20	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	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	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,14:84:99:0|1:37887093_A_G:138,0,2485:37887093	5	0	11	5
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|1:70,14:84:99:0|1:37887093_A_G:138,0,2485:37887093	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|1:68,14:82:99:0|1:37887093_A_G:144,0,2416:37887093	1	0	15	5
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N,	.	.	426	1062	32	2	0	36	0.0166667	.	.	549788	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.06	T	0.58	P	0.232	B	0.001	N	0.996	D	1.61	L	-0.34	T	-1.097	T	0.016	T	0.023	2.492	14.29	1.52	0.230	2.665	8.821	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	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	5404.66	35	chr19	38815889	.	C	T	5404.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.670e-01;DP=954;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.90;ReadPosRankSum=-9.660e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1371,0,1261	19	1	1	0
chr19	38921639	38921639	C	T	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_017827:exon4:c.G422A:p.R141H,	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	2730609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.012	B	0.001	B	0.008	N	.	.	1.1	L	0.89	T	-1.060	T	0.066	T	0.104	1.119	9.563	-1.31	-0.009	-1.379	7.330	0.028	0.0051382172283	.	.	5.866e-05	9.837e-05	0	0	0	3.047e-05	0	0.0002	4.53e-05	7	154602	rs779303412	5.746e-05	5.746e-05	5.989e-05	5.5e-05	0.0007	4.743e-05	4.366e-05	0.0002	0.0001	8.961e-05	4.472e-05	0	0	0	0.0007	4.496e-05	0.0002	0.0002	1.97e-05	1.97e-05	3.853e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.411e-05	0	0	0	0	0	0	2.94e-05	0	0	0.165	0.23271	T	0.182	0.30339	T	0.007	0.14184	B	0.001	0.04355	B	0.008275	0.30928	N	0.333921	.	.	.	1.355	0.33814	L	0.89	0.45636	T	-1.25	0.31576	N	0.172	0.18376	-1.0599	0.11781	T	0.066	0.27052	T	9	0.064609885	0.08593	T	0.005138	0.13063	T	0.028	0.06331	0.478	0.55663	0.276065633971	0.27208	.	.	.	.	.	.	.	0.103481	0.41217	T	-0.523334	0.00421	T	-0.697361	0.05971	T	0.0336798785994503	0.02585	T	.	.	.	0.033927903	0.03710	0.034381066	0.02495	0.033927903	0.03710	0.034381066	0.02494	-7.086	0.54659	T	.	.	0.081	0.08272	B	.;.	.;.	0.737677	0.11073	7.721	0.98931284464465108	0.48750	0.05863	0.11809	N	AEFDBCI	0.061574	0.11782	N	-0.98227580421725	0.08982	0.4232724	-1.02992366348367	0.09131	0.4525707	0.941094238286629	0.27461	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.57	-1.31	0.08749	-1.629000	0.02132	-3.885000	0.02474	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.0:0.4555:0.0:0.5445	7.330	0.25751	668	0.61153	.;.	.	.	.	.	.	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	348.98	33	chr19	38921639	.	C	T	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=740;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-2.416e+00;SOR=0.813	GT:AD:DP:GQ:PL	0/1:27,15:42:99:363,0,635	20	0	1	0
chr19	39203896	39203896	C	T	exonic	SYCN	.	nonsynonymous SNV	SYCN:NM_001080468:exon1:c.G359A:p.G120E,	.	.	422	1098	2	0	0	2	0.000909918	.	.	2240952	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.918	D	0.001	D	0.996	N	1.955	M	0.64	T	-0.800	T	0.241	T	0.683	2.219	13.38	3.96	2.038	5.709	13.553	0.263	0.026120060171	.	.	2.985e-05	0	0	0	0	1.735e-05	0	0.0002	1.94e-05	3	154602	rs751304845	4.387e-05	4.378e-05	5.318e-05	3.446e-05	0.0005	3.516e-05	3.2e-05	0.0001	7.557e-05	2.989e-05	2.251e-05	0	0	0	0.0005	4.232e-05	4.979e-05	0.0001	4.597e-05	4.593e-05	6.425e-05	2.687e-05	8.824e-05	2.108e-05	1.526e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0.0034	8.824e-05	0	0	0.01	0.56456	D	0.031	0.53788	D	0.997	0.70673	D	0.918	0.65394	D	0.000816	0.41658	D	0.090415	0.995607	0.23248	N	2.645	0.77386	M	0.64	0.52867	T	-6.88	0.93217	D	0.628	0.64223	-0.8002	0.55133	T	0.241	0.60881	T	10	0.7391561	0.74833	D	0.02612	0.49051	D	0.263	0.57612	0.517	0.61763	0.406120066682	0.40223	0.8295754062324342	0.82915	0.683597874997	0.60172	0.506132781506	0.39682	T	0.479274	0.80875	T	-0.0933871	0.37518	T	-0.135252	0.60527	T	0.683853268623352	0.39964	D	0.573743	0.20563	T	0.5646815	0.70768	0.6887695	0.81691	0.5646815	0.70769	0.6887695	0.81692	-5.414	0.41054	T	.	.	0.365	0.57554	A	.	.	3.652462	0.51842	23.2	0.98367190939192928	0.40709	0.91393	0.53443	D	AEFDBI	0.724156	0.67354	D	0.255851181588532	0.53927	3.559875	0.0828213870209732	0.43684	2.665184	0.996739454093382	0.34966	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	3.96	3.96	0.45097	4.264000	0.58657	.	.	0.524000	0.24156	0.572000	0.27522	0.147000	0.23145	0.101000	0.18331	0.0:1.0:0.0:0.0	13.553	0.61204	520	0.74355	.	.	.	.	.	.	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	812.98	39	chr19	39203896	.	C	T	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.710e-01;DP=782;ExcessHet=0.0000;FS=0.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.137;SOR=0.565	GT:AD:DP:GQ:PL	0/1:47,33:80:99:827,0,1339	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|2:0,17,20:37:99:0|1:40667960_TTGC_T:1571,846,789,678,0,643:40667960	4	8	8	0
chr19	45144962	45144962	C	T	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon9:c.C1096T:p.L366F,	.	.	406	1102	14	0	0	14	0.00631199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.014	N	1.000	D	2.645	M	-1.5	D	0.031	D	0.435	T	0.878	4.049	20.8	3.63	1.193	2.940	10.267	0.828	.	.	0.00299521	0.0055	0.0018	0.0110	0	0	0.0048	0.0076	0.0061	0.0020828	322	154602	rs146723120	0.0098	0.0093	0.0099	0.0098	0.0113	0.0097	0.0096	0.0111	0.0110	0.0016	0.0026	0.0008	2.801e-05	0.0110	0.0033	0.0113	0.0078	0.0054	0.0077	0.0077	0.0077	0.0076	0.0117	0.0073	0.0072	0.0111	0.0108	0.0022	0.0493	0.0022	0.0006	0.0004	0.0141	0	0.0117	0.0038	0.0072	0.004	0.65419	D	0.086	0.40909	T	.	.	.	.	.	.	0.013611	0.28787	N	0.318910	0.999719	0.48481	D	2.85	0.82803	M	-1.5	0.81318	D	-3.37	0.66665	D	0.868	0.86511	0.031	0.82872	D	0.435	0.77510	T	8	0.013455033	0.00285	T	.	.	.	0.828	0.94541	.	.	0.598116539115	0.59492	0.7204627216306844	0.71989	.	.	0.755184829235	0.75213	T	0.252006	0.62233	T	0.0177854	0.54082	T	0.263159	0.86239	D	0.0185308713044781	0.00569	T	0.905609	0.66735	D	0.30629918	0.53463	0.31038934	0.57050	0.30629918	0.53463	0.31038934	0.57049	-7.431	0.57123	T	.	.	0.875	0.81176	P	.	.	4.347695	0.66745	25.0	0.99879613756968999	0.95572	0.84915	0.44010	D	AEFDBI	0.479137	0.52141	N	0.273710996863994	0.54821	3.64675	0.257900779730125	0.53099	3.480709	0.999716271027713	0.42101	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.66	3.63	0.40741	3.234000	0.51019	3.942000	0.40610	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.972000	0.54974	0.0:0.9035:0.0:0.0965	10.267	0.42637	929	0.16858	.	.	.	.	.	rs146723120	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	1816.11	36	chr19	45144962	.	C	T	1816.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.541;DP=795;ExcessHet=0.1072;FS=0.624;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.542;SOR=0.632	GT:AD:DP:GQ:PL	0/1:25,39:64:99:1091,0,650	19	0	2	0
chr19	48921293	48921293	G	A	exonic	NUCB1	.	nonsynonymous SNV	NUCB1:NM_006184:exon11:c.G1142A:p.R381H,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.001	B	0.001	B	0.085	N	0.983	N	-0.345	N	2.25	T	-0.953	T	0.014	T	0.071	2.057	12.84	-0.032	0.108	2.069	6.522	0.017	0.00704993720002	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772993506	6.93e-06	8.893e-06	5.507e-06	8.373e-06	2.595e-05	3.5e-06	2.56e-06	1.96e-06	1.29e-06	0	0	0	2.595e-05	0	0	5.437e-06	3.357e-05	1.193e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.265	0.22694	T	0.001	0.07471	B	0.0	0.01387	B	0.084912	0.20670	N	0.533090	0.982758	0.24939	N	0.895	0.22405	L	2.25	0.17761	T	0.53	0.02808	N	0.103	0.08646	-0.9534	0.40380	T	0.014	0.05753	T	10	0.048405528	0.04288	T	0.00705	0.18676	T	0.017	0.02790	0.226	0.15109	0.219573609325	0.21563	0.14077260956668808	0.14000	0.348646433695	0.36727	0.453892886639	0.32476	T	0.066119	0.32863	T	-0.322213	0.06718	T	-0.700613	0.05793	T	0.159408104869381	0.17828	T	0.838216	0.51127	T	0.021549104	0.00763	0.0348003	0.02613	0.021549104	0.00763	0.0348003	0.02613	-4.526	0.31227	T	.	.	0.068	0.02702	B	.;.	.;.	3.150379	0.42647	21.6	0.97157066461357822	0.32612	0.42131	0.26810	N	AEFDBCI	0.357308	0.44839	N	-0.676196906376727	0.16700	0.853216	-0.512048210627918	0.21826	1.182553	0.0216329292042841	0.13365	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.11	-0.0316	0.13236	1.869000	0.39156	5.278000	0.48172	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.58:0.0:0.42:0.0	6.522	0.21478	744	0.52588	.;.	.	.	.	.	.	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	765.98	39	chr19	48921293	.	G	A	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.951;DP=796;ExcessHet=0.0000;FS=4.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=-2.870e-01;SOR=0.283	GT:AD:DP:GQ:PL	0/1:20,30:50:99:780,0,435	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	0/1:21,16,0,0:37:99:.:.:558,0,740,621,789,1410,621,789,1410,1410	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	0/1:21,16,0,0:37:99:.:.:558,0,740,621,789,1410,621,789,1410,1410	5	4	8	0
chr19	49182889	49182889	G	A	exonic	TRPM4	.	stopgain	TRPM4:NM_001321285:exon6:c.G513A:p.W171X	Progressive familial heart block, type IB, Autosomal dominant	.	0	1513	9	0	0	9	0.0029654	.	.	243380	Progressive_familial_heart_block_type_IB|Cardiovascular_phenotype|Sudden_cardiac_death|not_specified|not_provided	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN230736|EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	5.070	31	-0.786	0.083	0.598	4.739	.	.	0.0007	0.000399361	0.0016	0.0004	0.0006	0	0.0065	0.0019	0	0.0008	0.0013195	204	154602	rs71352737	0.0018	0.0018	0.0018	0.0018	0.0054	0.0017	0.0017	0.0039	0.0034	0.0004	0.0002	0	0	0.0051	0.0054	0.0020	0.0012	0.0005	0.0016	0.0016	0.0015	0.0018	0.0022	0.0015	0.0014	0.0020	0.0018	0.0003	0	0.0005	0.0003	0	0.0066	0	0.0022	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.601	0.62442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.163103	0.26282	T	-0.0132297	0.69474	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.633348	0.92690	32	0.97466819956511719	0.34115	0.07213	0.13237	N	AEFDBI	0.048137	0.08182	N	0.0531138847885988	0.44286	2.705398	-0.37024840436156	0.25888	1.426515	6.99465648457758E-4	0.07645	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.44	-0.786	0.10394	0.670000	0.24838	0.612000	0.20040	0.657000	0.54293	0.010000	0.18352	0.031000	0.21272	0.001000	0.02609	0.1435:0.4387:0.4178:0.0	4.739	0.12378	723	0.55174	.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	290.98	14	chr19	49182889	.	G	A	290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=592;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.138;SOR=0.693	GT:AD:DP:GQ:PL	0/1:19,10:29:99:305,0,558	20	0	1	0
chr19	49463885	49463885	G	A	exonic	ALDH16A1	.	nonsynonymous SNV	ALDH16A1:NM_001145396:exon8:c.G977A:p.R326H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.927	P	0.224	B	0.530	N	1.000	N	0	N	-0.99	T	-1.004	T	0.089	T	0.11	0.528	6.862	1.62	0.173	0.392	10.262	0.204	0.0159308885237	0.0029	0.00199681	0.0008	0.0087	8.64e-05	0	0	0	0	0.0003	0.0006856	106	154602	rs113108384	0.0002	0.0002	0.0002	0.0002	0.0071	0.0002	0.0002	0.0064	0.0061	0.0071	0.0003	0	0	0	0.0003	8.996e-06	0.0003	0.0004	0.0022	0.0022	0.0022	0.0021	0.0074	0.0020	0.0019	0.0068	0.0065	0.0074	0	0.0010	0	0	0	0	2.943e-05	0.0014	0.0002	0.014	0.54683	D	0.218	0.26066	T	0.927	0.51527	P	0.224	0.37970	B	0.530368	0.11645	N	0.803175	1	0.08975	N	0.345	0.11182	N	-0.99	0.75911	T	-0.23	0.10656	N	0.141	0.16864	-1.0040	0.28755	T	0.089	0.34243	T	10	0.0059390366	0.00133	T	0.015931	0.36930	T	0.204	0.49076	.	.	0.284150004643	0.28039	0.6794850944113203	0.67887	0.0878513026773	0.09920	0.297228455544	0.09989	T	0.09191	0.49492	T	-0.458279	0.01008	T	-0.425795	0.30414	T	0.00957876851159017	0.00124	T	0.431557	0.11736	T	0.06437559	0.13653	0.041652977	0.04782	0.06437559	0.13652	0.041652977	0.04782	-5.657	0.43309	T	.	.	0.062	0.01884	B	.;.;.	.;.;.	2.331660	0.29866	18.26	0.95212634333105972	0.26421	0.03270	0.08308	N	AEFBI	0.070205	0.13927	N	-1.05363209796568	0.07516	0.3494253	-1.1067385654398	0.07571	0.3687699	0.592413533345831	0.21657	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.02	1.62	0.22817	0.988000	0.29216	4.353000	0.43094	-0.189000	0.09497	0.542000	0.27283	1.000000	0.68203	0.022000	0.11911	0.2538:0.0:0.7462:0.0	10.262	0.42611	799	0.44747	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase 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	1409.98	36	chr19	49463885	.	G	A	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.290e+00;DP=957;ExcessHet=0.0000;FS=1.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.23;ReadPosRankSum=-1.612e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/1:124,71:195:99:1424,0,2980	20	0	1	0
chr19	49659696	49659696	C	T	exonic	IRF3	.	nonsynonymous SNV	IRF3:NM_001197122:exon8:c.G1252A:p.A418T,	.	.	417	1088	17	0	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0990043704477	0.0006	0.000599042	0.0009	0	0.0008	0	0	0.0009	0	0.0024	0.0007827	121	154602	rs141490768	0.0006	0.0006	0.0006	0.0006	0.0061	0.0006	0.0006	0.0045	0.0039	5.974e-05	0.0008	0.0012	0	0	0.0061	0.0005	0.0008	0.0019	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	9.633e-05	0	0.0011	0.0012	0	0	0.0102	0.0007	0.0009	0.0027	.	.	.	0.849	0.03517	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-4.42	0.98183	D	.	.	.	0.08	0.08088	.	.	.	.	.	.	.	0.00934276	0.00211	T	0.099004	0.77036	D	.	.	.	.	0.997809601061	0.99778	0.12079864673696854	0.12006	0.709368004076	0.61626	0.259905189276	0.04880	T	0.010685	0.09625	T	-0.211879	0.19114	T	-0.0832929	0.64662	T	.	.	.	0.321068	0.08182	T	.	.	.	.	.	.	.	.	-4.709	0.33513	T	.	.	0.087	0.35829	B	.;.;.	.;.;.	-0.087595	0.03715	0.762	0.81608462009875571	0.13770	0.76696	0.37636	D	ALL	0.080190	0.16208	N	.	.	.	.	.	.	0.999810827222841	0.43459	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.46	-5.76	0.02183	-0.175000	0.09816	-0.046000	0.12607	-0.313000	0.06017	0.884000	0.31069	0.471000	0.25053	0.705000	0.34296	0.1064:0.4035:0.2844:0.2057	2.835	0.05172	819	0.41190	.;.;.	.	.	.	.	.	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	1289.98	36	chr19	49659696	.	C	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=860;ExcessHet=0.0000;FS=1.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-3.760e-01;SOR=0.484	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1304,0,1057	20	0	1	0
chr19	49889804	49889804	T	C	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.A1459G:p.M487V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.000	U	1.000	N	0	N	1.66	T	-1.010	T	0.014	T	0.029	-0.547	1.521	-6.95	-2.015	-0.360	3.706	0.041	.	0.0068	0.00678914	0.0021	0.0218	0.0011	0	0	4.756e-05	0	0	0.001837	284	154602	rs113830574	0.0006	0.0006	0.0006	0.0006	0.0213	0.0006	0.0006	0.0200	0.0194	0.0213	0.0012	0	0	0	0.0009	4.172e-05	0.0015	5.198e-05	0.0067	0.0067	0.0067	0.0067	0.0234	0.0063	0.0062	0.0221	0.0216	0.0234	0	0.0023	0	0	0	0	2.941e-05	0.0038	0	0.625	0.05229	T	0.482	0.11829	T	0.001	0.09854	B	0.0	0.04355	B	0.000006	0.00162	U	767.443000	1	0.08975	N	-0.345	0.03330	N	1.66	0.27650	T	-0.25	0.11008	N	0.089	0.06720	-1.0105	0.26760	T	0.014	0.05369	T	10	0.0030534565	0.00050	T	.	.	.	0.041	0.10877	.	.	0.0138822411134	0.00435	0.7965805998128296	0.79611	1.04424032132	0.75900	0.219934567809	0.01306	T	0.087313	0.37914	T	-0.739252	0.00021	T	-0.816407	0.01526	T	0.00319421367100959	0.00034	T	0.316468	0.06291	T	0.06776504	0.14705	0.052241318	0.08568	0.06776504	0.14704	0.052241318	0.08567	-2.567	0.07455	T	.	.	0.060	0.01271	B	.;.;.	.;.;.	-0.296489	0.02632	0.332	0.41451891657363621	0.02992	0.03718	0.09006	N	AEFGBHCI	0.069216	0.13690	N	-1.68936116222601	0.00880	0.03808619	-1.77633578610355	0.00838	0.03743223	0.999999999227736	0.74766	0.656854	0.48797	0	0.672317	0.65289	0	0.606884	0.38211	0	0.699908	0.69081	0	.	.	3.47	-6.95	0.01470	0.308000	0.19071	0.253000	0.16451	0.347000	0.19874	0.005000	0.17040	0.002000	0.18203	0.003000	0.05239	0.1244:0.2133:0.5059:0.1564	3.706	0.07931	633	0.64743	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1438.98	33	chr19	49889804	.	T	C	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.510e+00;DP=849;ExcessHet=0.0000;FS=0.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-2.500e-01;SOR=0.812	GT:AD:DP:GQ:PL	0/1:77,62:139:99:1453,0,2027	20	0	1	0
chr19	49960686	49960686	G	T	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon2:c.C326A:p.P109H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.070	N	1.000	N	3.155	M	1.97	T	-0.831	T	0.237	T	0.304	2.268	13.54	2.24	1.762	0.230	5.478	0.109	.	0.0014	0.00439297	0.0016	0.0201	0.0008	0	0	0.0002	0	0	0.0010758	28	26028	rs141545538	0.0005	0.0005	0.0005	0.0004	0.0174	0.0005	0.0004	0.0162	0.0157	0.0174	0.0007	0	0	0	0.0005	2.878e-05	0.0010	4.638e-05	0.0049	0.0050	0.0050	0.0048	0.0181	0.0046	0.0045	0.0170	0.0165	0.0181	0	0.0015	0	0	0	0	2.946e-05	0.0029	0	0.026	0.46910	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.070480	0.21537	N	0.408875	1	0.08975	N	3.325	0.90780	M	1.97	0.22067	T	-7.24	0.94326	D	0.221	0.24758	-0.8307	0.53257	T	0.237	0.60403	T	10	0.0060087144	0.00135	T	.	.	.	0.115	0.32236	.	.	0.458644561121	0.45486	0.3785114795205576	0.37766	2.84684013171	0.99016	0.236102074385	0.02450	T	0.054552	0.29757	T	-0.501671	0.00560	T	-0.479112	0.24540	T	0.109495697139118	0.13370	T	0.59724	0.22604	T	0.50904065	0.67624	0.34855044	0.60493	0.50904065	0.67625	0.34855044	0.60493	-10.051	0.74544	D	.	.	0.810	0.77745	P	.;.	.;.	2.509386	0.32405	19.03	0.99288317508275725	0.58184	0.03661	0.08919	N	AEFDGBI	0.041536	0.06327	N	-0.251199276636312	0.31055	1.737625	-0.472459661730906	0.22915	1.247078	0.00117013660001147	0.08293	0.487112	0.14033	0	0.547309	0.14657	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.28	2.24	0.27264	0.393000	0.20543	0.655000	0.20452	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.156:0.0:0.844:0.0	5.478	0.15998	681	0.59854	Immunoglobulin V-set domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3655.98	36	chr19	49960686	.	G	T	3655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=3666;ExcessHet=0.0000;FS=2.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.49;MQRankSum=-9.000e-03;QD=8.04;ReadPosRankSum=-1.743e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,112:455:99:0|1:49960685_G_C:3670,0,13963:49960685	20	0	1	0
chr19	51340472	51340472	A	T	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon3:c.T1150A:p.F384I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.997	D	0.995	D	.	.	0.993	N	0	N	-0.8	T	-0.801	T	0.293	T	0.33	2.597	14.65	3.04	1.256	4.246	7.509	0.273	0.463025943619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.949e-06	4.788e-06	2.894e-06	3.007e-06	3.772e-06	6.9e-07	4.7e-07	8.8e-07	6e-07	0	0	0	0	0	0	3.772e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	.	.	.	.	0.993433	0.23712	N	1.59	0.40313	L	-0.8	0.73845	T	-0.91	0.24460	N	0.399	0.43995	-0.8015	0.55056	T	0.293	0.66498	T	9	0.39501184	0.55163	T	0.463026	0.94547	D	0.273	0.58883	0.379	0.39482	0.363356657567	0.35953	0.44968346313313673	0.44886	.	.	0.750316739082	0.74493	T	0.002845	0.02237	T	-0.0320332	0.47121	T	-0.28379	0.46414	T	0.788107074534072	0.45566	D	0.50435	0.15896	T	0.13304906	0.30960	0.20910308	0.45241	0.13304906	0.30959	0.20910308	0.45240	-6.028	0.46514	T	.	.	0.820	0.78216	P	.	.	4.430486	0.68699	25.3	0.98458956847333245	0.41711	0.89783	0.50473	D	ALL	0.349606	0.44334	N	0.0508376483490407	0.44181	2.696883	0.016642393607275	0.40488	2.417049	0.999999883381844	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	3.04	3.04	0.34171	0.990000	0.29242	.	.	0.579000	0.29447	0.999000	0.42656	1.000000	0.68203	0.610000	0.31640	1.0:0.0:0.0:0.0	7.509	0.26729	976	0.04745	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	0	0	0	0	0	0	0	0.02381	995.98	76	chr19	51340472	.	A	T	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.260e-01;DP=1466;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=1.45;SOR=0.620	GT:AD:DP:GQ:PL	0/1:55,42:97:99:1010,0,1441	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|2:29,0,25:54:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:937,1028,2250,0,1222,1147:52384817	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|1:29,11,0,0:40:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:374,0,1185,462,1218,1680,462,1218,1680,1680:52384817	13	0	3	0
chr19	53353112	53353112	C	T	exonic	ZNF845	.	nonsynonymous SNV	ZNF845:NM_138374:exon4:c.C2437T:p.R813C	.	.	412	1103	6	1	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.998	D	0.935	D	.	.	1.000	N	1.535	L	3.19	T	-1.042	T	0.035	T	0.108	0.884	8.589	-0.552	-0.359	-0.561	3.500	0.056	0.00132717297459	0.0013	0.000998403	0.0010	0.0004	0.0003	0.0040	0.0002	0.0009	0.0011	0.0009	0.000912	141	154602	rs185841540	0.0009	0.0009	0.0010	0.0009	0.0029	0.0009	0.0009	0.0024	0.0023	0.0002	0.0004	3.859e-05	0.0029	5.66e-05	0.0005	0.0010	0.0008	0.0008	0.0009	0.0009	0.0010	0.0009	0.0057	0.0008	0.0007	0.0040	0.0035	0.0002	0	0.0003	0	0.0057	9.612e-05	0	0.0013	0.0014	0.0004	0.084	0.32929	T	0.192	0.28300	T	0.998	0.73220	D	0.935	0.67021	D	.	.	.	.	1	0.08975	N	0.93	0.23535	L	3.19	0.07353	T	-2.68	0.57275	D	0.144	0.19593	-1.0416	0.16830	T	0.035	0.15291	T	9	0.005784631	0.00129	T	0.001327	0.01885	T	0.056	0.15993	.	.	0.318540980066	0.31459	0.02176848010166769	0.02128	0.651714769352	0.58392	0.251920580864	0.03973	T	0.005829	0.05277	T	-0.677995	0.00049	T	-0.744889	0.03688	T	0.0491619605712485	0.05352	T	0.262274	0.04237	T	0.06725012	0.14545	0.06491781	0.13081	0.06725012	0.14544	0.06491781	0.13081	-7.645	0.58624	D	.	.	0.456	0.62898	A	.;.	.;.	0.967655	0.13443	9.954	0.97692638481148131	0.35382	0.03440	0.08579	N	AEFGBCI	0.022216	0.01082	N	-0.762286583428568	0.14301	0.7112952	-1.04552326389401	0.08800	0.4344858	0.00108863858751969	0.08206	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.1	-0.552	0.11227	-2.372000	0.01152	.	.	-2.961000	0.00149	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4178:0.2024:0.0:0.3798	3.500	0.07230	994	0.00715	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	.	.	.	.	.	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	2323.98	61	chr19	53353112	.	C	T	2323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.711e+00;DP=1292;ExcessHet=0.0000;FS=4.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.065e+00;SOR=0.441	GT:AD:DP:GQ:PL	0/1:100,95:195:99:2338,0,2726	20	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	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	0/1:217,62:279:99:938,0,6170	4	0	16	1
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D,	.	.	438	644	313	127	0	567	0.30566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0/1:340,57:397:99:505,0,10093	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	0/1:444,60:504:99:1166,0,12916	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	0/1:472,60:532:99:.:.:1078,0,19508	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|1:506,38:544:73:0|1:54752482_T_C:73,0,20893:54752482	7	2	11	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|1:232,22:254:99:0|1:54760643_A_G:215,0,9467:54760643	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|1:232,23:255:99:0|1:54760643_A_G:257,0,9474:54760643	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|1:231,25:256:99:0|1:54760665_T_C:355,0,9392:54760665	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|1:224,25:249:99:0|1:54760665_T_C:375,0,9330:54760665	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|1:218,25:243:99:0|1:54760665_T_C:394,0,9076:54760665	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|1:209,25:234:99:0|1:54760665_T_C:421,0,8672:54760665	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|1:509,59:568:99:0|1:54773456_T_C:945,0,20842:54773456	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	0/1:525,95:620:99:2373,0,14805	12	0	9	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	0/1:89,102,5:196:99:.:.:2634,0,2289,2940,2618,8112	8	1	9	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,20:270:87:0|1:54805010_A_G:87,0,10396:54805010	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,20:270:87:0|1:54805010_A_G:87,0,10436:54805010	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,23:275:99:0|1:54805010_A_G:207,0,10512:54805010	11	0	10	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|1:239,27:266:99:0|1:54805010_A_G:414,0,9954:54805010	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	0/1:205,41:246:99:.:.:1046,0,5780	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|1:200,31:231:99:0|1:54805940_TCTC_T:700,0,8305:54805940	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|1:202,33:235:99:0|1:54805940_TCTC_T:778,0,8383:54805940	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|1:221,43:264:99:0|1:54805940_TCTC_T:1140,0,9150:54805940	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|1:231,49:280:99:0|1:54805940_TCTC_T:1342,0,9499:54805940	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|1:299,63:362:99:0|1:54806034_C_A:1736,0,12337:54806034	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|1:299,63:362:99:0|1:54806034_C_A:1736,0,12337:54806034	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|1:323,59:382:99:0|1:54806034_C_A:1505,0,13385:54806034	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|1:344,55:399:99:0|1:54806034_C_A:1274,0,14279:54806034	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|1:338,52:390:99:0|1:54806034_C_A:1166,0,14036:54806034	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|1:333,50:383:99:0|1:54806034_C_A:1097,0,13832:54806034	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|1:322,45:367:99:0|1:54806034_C_A:920,0,13385:54806034	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|1:301,45:346:99:0|1:54808838_C_T:983,0,12470:54808838	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|1:308,48:356:99:0|1:54808838_C_T:1088,0,12768:54808838	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|1:308,48:356:99:0|1:54808838_C_T:1088,0,12768:54808838	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	0/1:302,51:353:99:1236,0,8070	7	0	14	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T	.	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.017	B	0.016	B	.	.	1.000	N	1.91	M	7.22	T	-0.957	T	0.001	T	0.113	-0.230	2.891	-1.44	-0.785	-0.866	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	0.15	3117.3	35	chr19	54830166	.	G	C	3117.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-4.161e+00;DP=4417;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.67;MQRankSum=-1.789e+01;QD=1.56;ReadPosRankSum=-1.700e-02;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,20:260:99:0|1:54830166_G_C:117,0,9999:54830166	14	0	6	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C	.	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.004	B	.	.	1.000	N	1.505	L	7.16	T	-0.972	T	0.001	T	0.117	-0.254	2.778	0.569	0.567	0.678	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	0.15	3228.3	35	chr19	54830177	.	C	T	3228.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.737e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.794e+01;QD=1.57;ReadPosRankSum=1.91;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,21:273:99:0|1:54830166_G_C:123,0,10511:54830166	14	0	6	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P	.	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.003	B	.	.	1.000	N	0.605	N	7.24	T	-0.908	T	0.001	T	0.094	-2.412	0.003	-1.14	-1.579	-0.469	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	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	0.15	3252.3	35	chr19	54830178	.	G	C	3252.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.995e+00;DP=4479;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.62;MQRankSum=-1.808e+01;QD=1.58;ReadPosRankSum=2.10;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,22:275:99:0|1:54830166_G_C:162,0,10557:54830166	14	0	6	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T	.	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.007	B	.	.	1.000	N	0.895	L	7.02	T	-0.948	T	0.001	T	0.085	-3.212	0.001	-0.727	-0.235	-0.860	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.15	3351.3	35	chr19	54830217	.	T	C	3351.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.492e+00;DP=4457;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.828e+01;QD=1.65;ReadPosRankSum=4.76;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,22:272:99:0|1:54830166_G_C:171,0,10431:54830166	14	0	6	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M	.	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.015	B	0.004	B	.	.	1.000	N	0.05	N	7.16	T	-0.949	T	0.001	T	0.116	-0.161	3.214	0.569	-0.221	-0.021	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.15	3297.3	35	chr19	54830219	.	T	A	3297.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.982e+00;DP=4460;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.66;MQRankSum=-1.825e+01;QD=1.62;ReadPosRankSum=4.19;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,22:272:99:0|1:54830166_G_C:171,0,10431:54830166	14	0	6	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M	.	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.226	B	0.042	B	.	.	1.000	N	0.66	N	7.16	T	-0.970	T	0.001	T	0.116	-0.776	0.741	-1.01	-0.398	-1.561	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0.15	3090.3	35	chr19	54830226	.	C	T	3090.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.236e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.69;MQRankSum=-1.825e+01;QD=1.51;ReadPosRankSum=2.95;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,22:275:99:0|1:54830166_G_C:162,0,10557:54830166	14	0	6	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6	.	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2796.99	35	chr19	54830252	.	TC	T	2796.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.582e+00;DP=4357;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.62;MQRankSum=-1.642e+01;QD=1.45;ReadPosRankSum=-1.343e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,21:260:99:0|1:54830166_G_C:162,0,9972:54830166	15	0	6	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2545.27	35	chr19	54830255	.	AAAG	A	2545.27	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.717e+00;DP=4318;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.64;MQRankSum=-1.636e+01;QD=1.34;ReadPosRankSum=-1.346e+00;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,20:251:99:0|1:54830166_G_C:144,0,9639:54830166	14	0	6	1
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	0/2:185,89,73:347:99:.:.:2258,527,5170,0,2883,8762	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|1:251,31:282:99:0|1:54855608_TCTC_T:546,0,10446:54855608	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|1:252,29:281:99:0|1:54855608_TCTC_T:459,0,10469:54855608	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|1:170,36:206:99:0|1:54865794_T_C:1000,0,7030:54865794	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|1:172,36:208:99:0|1:54865794_T_C:994,0,7114:54865794	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|1:167,35:202:99:0|1:54865794_T_C:967,0,6907:54865794	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|1:164,35:199:99:0|1:54865794_T_C:976,0,6781:54865794	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|1:165,34:199:99:0|1:54865794_T_C:931,0,6826:54865794	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|1:162,34:196:99:0|1:54865794_T_C:940,0,6700:54865794	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|1:156,31:187:99:0|1:54865794_T_C:832,0,6457:54865794	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|1:157,30:187:99:0|1:54865794_T_C:787,0,6453:54865794	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|1:152,27:179:99:0|1:54865794_T_C:670,0,6239:54865794	7	0	13	1
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|1:237,35:272:99:0|1:54866416_T_C:733,0,9843:54866416	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	1/1:0,71,0:71:99:.:.:3193,220,0,3193,220,3193	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	1/1:0,71,0:71:99:.:.:3193,220,0,3193,220,3193	0	18	2	0
chr19	55912526	55912526	C	G	exonic	NLRP13	.	nonsynonymous SNV	NLRP13:NM_001321057:exon5:c.G1291C:p.V431L	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.993	D	.	.	1.000	N	2.355	M	-0.83	T	-0.582	T	0.483	T	0.356	2.760	15.19	0.085	-0.022	-0.219	3.418	0.287	0.0594253782644	.	.	6.59e-05	0	0	0	0	0.0001	0	6.057e-05	5.17e-05	8	154602	rs759986648	5.267e-05	5.267e-05	5.173e-05	5.363e-05	0.0007	4.277e-05	3.953e-05	0.0002	0.0001	0	0	0.0015	5.038e-05	0	0.0007	1.079e-05	0.0002	8.115e-05	4.6e-05	4.597e-05	3.854e-05	5.381e-05	4.41e-05	2.109e-05	1.527e-05	1.171e-05	6.25e-06	0	0	0	0.0009	0	0	0	4.41e-05	0.0005	0	0.041	0.41915	D	0.019	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.999982	0.18198	N	2.605	0.76211	M	-0.83	0.74159	T	-1.8	0.42384	N	0.115	0.16028	-0.5816	0.65554	T	0.483	0.80291	T	9	0.17134601	0.31849	T	0.059425	0.67659	D	0.287	0.60574	0.758	0.88730	0.471052466308	0.46733	0.19073547872646465	0.18991	0.048874627405	0.05341	0.286559551954	0.08424	T	0.033969	0.23133	T	-0.174047	0.24626	T	-0.318654	0.42723	T	0.148870552500353	0.17013	T	0.555844	0.19272	T	0.08175647	0.18801	0.07667778	0.17005	0.08175647	0.18801	0.07667778	0.17005	-7.164	0.55222	T	.	.	0.282	0.51480	B	.;.	.;.	1.233662	0.16288	12.44	0.97377218342507688	0.33652	0.14043	0.18191	N	AEFBI	0.061046	0.11644	N	-0.421690024375016	0.24710	1.33619	-0.719761436948641	0.16469	0.871362	2.02292347156819E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.55	0.085	0.13750	-0.152000	0.10145	-2.311000	0.03916	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.170000	0.20979	0.2492:0.5939:0.0:0.1569	3.418	0.06954	895	0.25842	.;.	.	.	.	.	.	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	1897.98	34	chr19	55912526	.	C	G	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=3266;ExcessHet=0.0000;FS=1.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.428;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,77:170:99:0|1:55912526_C_G:1912,0,3632:55912526	20	0	1	0
chr19	57327923	57327923	G	A	exonic	ZNF543	.	nonsynonymous SNV	ZNF543:NM_213598:exon4:c.G461A:p.R154H,	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.0	B	.	.	1.000	N	-0.455	N	2.08	T	-0.985	T	0.017	T	0.042	-1.227	0.060	-5.73	-2.841	-3.501	7.132	0.024	0.00148122106756	7.7e-05	0.000599042	0.0007	9.684e-05	0.0005	0	0	0.0004	0	0.0033	0.0006727	104	154602	rs202039911	0.0007	0.0007	0.0006	0.0008	0.0034	0.0007	0.0006	0.0030	0.0029	0.0001	0.0004	0	2.519e-05	1.874e-05	0.0019	0.0006	0.0005	0.0034	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0003	0.0036	0.0031	9.62e-05	0	0.0004	0	0.0002	0	0.0034	0.0005	0.0009	0.0052	1.0	0.00964	T	0.285	0.21343	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.08	0.20255	T	2.93	0.00151	N	0.031	0.00770	-0.9852	0.33784	T	0.017	0.06807	T	9	0.004888445	0.00104	T	0.001481	0.02267	T	0.024	0.04979	.	.	0.151104730317	0.14643	0.05587867145762792	0.05528	0.0408557262819	0.04386	0.1842032969	0.00139	T	0.017879	0.14511	T	-0.742619	0.00020	T	-0.842862	0.01056	T	0.00797481164980229	0.00094	T	0.0208979	0.00116	T	0.014864829	0.00111	0.036936432	0.03242	0.014864829	0.00111	0.036936432	0.03241	-2.794	0.08128	T	.	.	0.074	0.05188	B	.	.	-1.075837	0.00670	0.019	0.34231471189540569	0.02083	0.00703	0.02985	N	AEFBCI	0.012486	0.00138	N	-2.10197902207713	0.00127	0.005433091	-2.17313806259792	0.00129	0.005652439	0.693962162351813	0.22620	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.87	-5.73	0.02204	-4.036000	0.00349	.	.	-1.540000	0.00981	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4387:0.0:0.4443:0.117	7.132	0.24682	538	0.73119	.	.	.	.	.	.	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	1617.98	33	chr19	57327923	.	G	A	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.568;DP=2126;ExcessHet=0.0000;FS=2.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-3.600e-02;SOR=0.655	GT:AD:DP:GQ:PL	0/1:76,67:143:99:1632,0,1822	20	0	1	0
chr19	58417159	58417159	A	G	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.A506G:p.H169R	.	.	414	1101	7	0	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.958	D	.	.	1.000	D	2.58	M	0.07	T	-0.357	T	0.345	T	0.341	3.126	16.45	3.78	1.720	0.923	6.555	0.287	0.0719061472969	0.0002	0.000599042	0.0005	0	0	0	0	0.0003	0.0011	0.0028	0.0004916	76	154602	rs149429599	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0026	0.0025	5.974e-05	6.711e-05	0	0	5.616e-05	0.0019	0.0003	0.0004	0.0029	0.0003	0.0003	0.0004	0.0003	0.0046	0.0003	0.0002	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	0.0004	0.0005	0.0046	0.04	0.42199	D	0.04	0.53426	D	0.998	0.73220	D	0.958	0.70027	D	.	.	.	.	0.997455	0.22652	N	2.65	0.77586	M	0.07	0.61677	T	-5.43	0.85323	D	0.184	0.19995	-0.3572	0.73345	T	0.345	0.71004	T	9	0.011146396	0.00245	T	0.071906	0.71392	D	0.287	0.60574	.	.	0.776359005846	0.77430	0.6237655610279504	0.62309	0.396773779796	0.40786	0.33080291748	0.15056	T	0.166681	0.51301	T	-0.390031	0.02689	T	-0.337645	0.40612	T	0.164711508338464	0.18213	T	0.348865	0.07732	T	0.342006	0.56439	0.40971482	0.65253	0.342006	0.56439	0.40971482	0.65253	-8.125	0.61919	D	.	.	0.305	0.53347	B	.;.	.;.	2.948223	0.39226	20.9	0.99515071391132726	0.68858	0.52256	0.29088	D	AEFBI	.	.	.	0.243456063168605	0.53315	3.501026	0.0768390299467812	0.43386	2.641452	0.810832668586966	0.24352	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.78	3.78	0.42629	-0.010000	0.12681	0.091000	0.14516	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.899000	0.43558	0.7854:0.0:0.0:0.2146	6.555	0.21652	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1761.98	34	chr19	58417159	.	A	G	1761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=1637;ExcessHet=0.0000;FS=3.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.258;SOR=0.791	GT:AD:DP:GQ:PL	0/1:92,76:168:99:1776,0,2389	20	0	1	0
chr20	3270526	3270526	G	A	exonic	C20orf194	.	nonsynonymous SNV	C20orf194:NM_001009984:exon30:c.C2687T:p.T896M,	.	.	433	1076	11	2	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.005	B	0.004	B	0.683	N	1.000	N	0.755	N	2.19	T	-1.025	T	0.031	T	0.071	1.271	10.15	-6.97	-1.273	0.128	14.476	0.059	0.00706387392754	0.0020	0.000399361	0.0016	0.0001	0.0010	0	0	0.0025	0.0022	0.0010	0.001423	220	154602	rs61734536	0.0010	0.0010	0.0009	0.0011	0.0104	0.0010	0.0009	0.0082	0.0074	0.0004	0.0009	0.0199	7.557e-05	0	0.0104	0.0005	0.0031	0.0009	0.0010	0.0010	0.0012	0.0008	0.0008	0.0009	0.0008	0.0006	0.0006	4.813e-05	0	0.0008	0.0202	0	0	0.0068	0.0008	0.0028	0.0008	0.172	0.22660	T	0.264	0.22761	T	0.005	0.12996	B	0.002	0.06944	B	0.683345	0.10239	N	0.868192	1	0.08975	N	1.155	0.29575	L	2.19	0.18724	T	-1.57	0.37955	N	0.124	0.11626	-1.0246	0.22214	T	0.031	0.13242	T	10	0.002697289	0.00042	T	0.007064	0.18704	T	0.059	0.16972	.	.	0.448498829774	0.44469	0.3119763271510845	0.31110	0.180957177562	0.20352	.	.	.	0.027973	0.20368	T	-0.632024	0.00093	T	-0.739827	0.03897	T	0.0122767947871683	0.00198	T	0.240176	0.03436	T	0.022769598	0.00963	0.07199755	0.15482	0.022769598	0.00963	0.07199755	0.15482	-4.375	0.29216	T	.	.	0.067	0.02370	B	.	.	0.591787	0.09604	6.376	0.93264850271802124	0.22961	0.06461	0.12469	N	AEFBI	0.051133	0.09005	N	-1.41053819242941	0.02545	0.1125367	-1.45039972113467	0.02766	0.1278428	0.020266759278747	0.13241	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.26	-6.97	0.01459	0.092000	0.14905	-1.840000	0.04631	-1.405000	0.01138	0.000000	0.06391	0.000000	0.08366	0.628000	0.32104	0.6024:0.0:0.3976:0.0	14.476	0.67123	376	0.83959	.	.	.	.	.	.	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	719.98	33	chr20	3270526	.	G	A	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.656e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/1:28,28:56:99:734,0,659	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	0/1:76,34:116:52:52,0,1270	5	0	16	0
chr20	20360405	20360405	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon27:c.G3709A:p.V1237I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.0	B	0.002	B	0.007	N	1.000	D	-1.21	N	2.91	T	-0.950	T	0.008	T	0.041	-1.156	0.098	2.95	0.076	0.621	8.530	0.032	0.00857651575642	0.0005	0.000199681	9.93e-05	0.0007	0	0	0	7.534e-05	0	0	8.41e-05	13	154602	rs34849779	3.216e-05	3.215e-05	3.54e-05	2.889e-05	0.0009	2.478e-05	2.221e-05	0.0006	0.0005	0.0009	2.236e-05	0	0	0	0	1.349e-05	3.312e-05	0	0.0001	0.0001	0.0001	9.401e-05	0.0003	6.508e-05	5.32e-05	0.0002	0.0002	0.0003	0	6.535e-05	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.631	0.07173	T	0.0	0.02946	B	0.002	0.06944	B	0.006831	0.31771	N	0.144833	1	0.81001	D	.	.	.	2.91	0.10008	T	-0.04	0.07590	N	0.048	0.01999	-0.9499	0.40989	T	0.008	0.02760	T	10	0.01308164	0.00279	T	0.008577	0.22680	T	0.032	0.07718	.	.	0.0954503805726	0.09146	0.13096742646329565	0.13021	0.0903265079375	0.10186	.	.	.	0.013785	0.11858	T	-0.599671	0.00146	T	-0.793185	0.02078	T	0.019927516579628	0.00693	T	0.448855	0.12628	T	0.031977657	0.03136	0.05253709	0.08675	0.031977657	0.03136	0.05253709	0.08674	-3.757	0.20164	T	.	.	0.066	0.02228	B	.	.	1.221458	0.16152	12.35	0.75065727900612189	0.10932	0.06262	0.12253	N	AEFGBHCI	0.031019	0.03233	N	-1.07610966699765	0.07085	0.3281205	-0.849006393037227	0.13311	0.6898519	0.999894785281669	0.45129	0.59774	0.34471	0	0.600433	0.49495	0	0.596491	0.31596	0	0.691587	0.68394	0	.	.	5.24	2.95	0.33285	0.401000	0.20673	1.834000	0.29138	-0.042000	0.17409	0.994000	0.38300	1.000000	0.68203	0.784000	0.37066	0.6584:0.0:0.3416:0.0	8.530	0.32490	850	0.35610	.	.	.	.	.	.	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	1398.98	34	chr20	20360405	.	G	A	1398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-5.720e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:43,56:99:99:1413,0,997	20	0	1	0
chr20	25057849	25057849	G	T	exonic	ACSS1	.	nonsynonymous SNV	ACSS1:NM_001252675:exon1:c.C254A:p.T85N	.	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.977	D	0.801	P	0.060	N	1.000	D	1.725	L	1.91	T	-0.832	T	0.163	T	0.136	3.100	16.35	3.56	1.989	0.849	10.809	0.046	0.291523353281	0.0015	0.000798722	0.0008	0.0024	0.0002	0	0	0.0007	0	0.0016	0.0006662	103	154602	rs141052908	0.0007	0.0007	0.0007	0.0008	0.0036	0.0007	0.0007	0.0024	0.0020	0.0024	0.0003	3.829e-05	0	3.791e-05	0.0036	0.0007	0.0010	0.0017	0.0013	0.0013	0.0012	0.0014	0.0032	0.0011	0.0011	0.0027	0.0026	0.0032	0	0.0003	0	0	0	0	0.0007	0	0.0021	0.019	0.51853	D	0.017	0.60337	D	0.267	0.31683	B	0.167	0.35118	B	0.060291	0.22259	N	0.425400	0.692654	0.30177	N	2.21	0.62235	M	0.95	0.43279	T	-0.72	0.30140	N	0.311	0.35301	-0.8324	0.53146	T	0.163	0.49914	T	10	0.0134807825	0.00286	T	0.291523	0.90580	D	0.046	0.12618	.	.	0.501685917333	0.49804	0.19554588008794624	0.19471	0.659343310634	0.58801	0.784863948822	0.79663	T	0.16727	0.51383	T	-0.565168	0.00236	T	-0.584608	0.14135	T	0.0126323565037961	0.00211	T	0.843516	0.53298	T	0.11745432	0.27690	0.110436045	0.26629	0.11745432	0.27690	0.110436045	0.26629	-8.856	0.66765	D	.	.	0.123	0.35581	B	.;.;.	.;.;.	2.328489	0.29829	18.25	0.99345844253411786	0.60371	0.30161	0.24011	N	ALL	0.086328	0.17504	N	0.00947331740424828	0.42285	2.54492	0.0267996725078128	0.40962	2.453197	0.999999989773191	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.503968	0.08637	0	0.618803	0.45993	0	.	.	3.56	3.56	0.39892	0.509000	0.22414	3.427000	0.38290	-0.324000	0.05829	0.147000	0.23610	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	10.809	0.45738	793	0.45818	.;Acetyl-coenzyme A synthetase, N-terminal domain;Acetyl-coenzyme A synthetase, N-terminal 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	1093.98	33	chr20	25057849	.	G	T	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=849;ExcessHet=0.0000;FS=0.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.180;SOR=0.848	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1108,0,1032	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:92,36:128:99:160,0,1749	2	0	19	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.59	P	0.275	B	0.000	D	1.000	D	1.555	L	-0.07	T	-0.786	T	0.212	T	0.631	3.317	17.15	5.32	2.004	9.089	15.319	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	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	0.1667	341.57	131	chr20	38497424	.	A	G	341.57	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.982e+00;DP=1625;ExcessHet=2.5830;FS=165.447;InbreedingCoeff=-0.2003;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=-1.800e-01;SOR=9.953	GT:AD:DP:GQ:PL	0/1:75,28:103:45:45,0,1353	14	0	7	0
chr20	39010379	39010379	A	G	exonic	DHX35	.	nonsynonymous SNV	DHX35:NM_001190809:exon12:c.A1229G:p.N410S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.054	B	0.134	B	0.000	N	1.000	D	2.65	M	4.19	T	-1.116	T	0.010	T	0.062	2.852	15.50	4.2	0.921	7.464	11.581	0.220	.	0.0060	0.00519169	0.0020	0.0206	0.0010	0.0002	0	8.995e-05	0.0011	0.0004	0.0018111	280	154602	rs61757594	0.0007	0.0007	0.0008	0.0005	0.0207	0.0006	0.0006	0.0194	0.0189	0.0207	0.0012	3.826e-05	2.519e-05	0	0.0009	8.903e-05	0.0012	0.0003	0.0055	0.0055	0.0062	0.0047	0.0189	0.0052	0.0051	0.0178	0.0173	0.0189	0	0.0023	0	0.0002	0	0	0.0001	0.0028	0.0002	0.012	0.54683	D	0.004	0.74150	D	0.021	0.18474	B	0.02	0.19048	B	0.000000	0.84330	N	0.042162	1	0.81001	D	2.005	0.54552	M	4.19	0.02716	T	-4.84	0.81187	D	0.563	0.58798	-1.1163	0.02580	T	0.010	0.03627	T	10	0.009386122	0.00212	T	.	.	.	0.220	0.51569	.	.	0.382592752248	0.37866	0.562226939321765	0.56149	0.153814078832	0.17355	0.723295807838	0.70527	T	0.157384	0.49997	T	-0.585546	0.00178	T	-0.596953	0.13069	T	0.0793929179806289	0.09908	T	0.918508	0.70719	D	0.39835253	0.60618	0.29175347	0.55201	0.39835253	0.60619	0.29175347	0.55200	-9.347	0.70072	D	.	.	0.285	0.56065	B	.;.;.	.;.;.	3.290249	0.45118	22.1	0.99645231039446758	0.76943	0.98885	0.88157	D	AEFGBI	0.805048	0.72974	D	0.0706432317533472	0.45097	2.772019	0.144702378409919	0.46863	2.925345	0.999999995856896	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.685571	0.62057	0	0.635551	0.53088	0	.	.	5.32	4.2	0.48814	7.424000	0.79433	6.084000	0.53377	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.9289:0.0:0.0711:0.0	11.581	0.50149	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	731.98	38	chr20	39010379	.	A	G	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.417;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=0.235;SOR=0.679	GT:AD:DP:GQ:PL	0/1:51,30:81:99:746,0,1392	20	0	1	0
chr20	42084829	42084829	C	T	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon29:c.G3989A:p.R1330H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.946	D	0.000	D	1.000	D	1.575	L	2.23	T	-1.156	T	0.101	T	0.815	5.441	35	5.55	2.894	3.067	19.698	0.233	0.00338996923949	.	0.000199681	0.0002	0	0.0017	0.0001	0	6.233e-05	0	0	0.0001682	26	154602	rs528913627	9.502e-05	0.0001	9.592e-05	9.408e-05	0.0014	8.075e-05	7.613e-05	0.0011	0.0009	0.0001	0.0014	4.733e-05	5.759e-05	0	0	6.654e-05	5.64e-05	0	0.0001	0.0001	0.0002	8.056e-05	0.0003	7.572e-05	6.277e-05	0.0001	8.282e-05	4.809e-05	0	0.0003	0	0	0	0	0.0001	0	0.0002	0.104	0.33585	T	0.118	0.41573	T	0.998	0.73220	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	2.23	0.18083	T	-2.67	0.57110	D	0.373	0.42737	-1.1561	0.00855	T	0.101	0.37341	T	10	0.058723688	0.06948	T	0.00339	0.07603	T	0.233	0.53499	.	.	0.447033504574	0.44327	0.5911669334988208	0.59046	0.77805699904	0.65136	0.689614057541	0.65650	T	0.629812	0.88512	D	-0.291733	0.09462	T	-0.199094	0.54732	T	0.115681978375941	0.14003	T	0.947905	0.79907	D	0.25659755	0.48700	0.2558852	0.51279	0.25659755	0.48700	0.2558852	0.51278	-8.852	0.66765	D	0.21817682431821145	0.29376	0.296	0.60973	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.207480	0.87374	29.2	0.99935612248537742	0.99579	0.94435	0.61157	D	AEFBCI	0.657448	0.62907	D	0.640306665714284	0.75742	6.360174	0.649949807944201	0.78608	6.910365	0.999999991189163	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	1.687000	0.37298	4.878000	0.45637	0.599000	0.40250	0.830000	0.30133	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.698	0.96034	850	0.35610	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	750.98	35	chr20	42084829	.	C	T	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=771;ExcessHet=0.0000;FS=2.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.597;SOR=1.052	GT:AD:DP:GQ:PL	0/1:36,27:63:99:765,0,895	20	0	1	0
chr20	45221448	45221448	C	G	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon1:c.C59G:p.A20G,	.	.	427	1094	1	0	0	1	0.00045683	.	.	2425244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.994	D	.	.	1.000	N	2.16	M	2.6	T	-1.084	T	0.075	T	0.346	2.424	14.07	1.47	0.574	0.185	4.850	0.088	0.00159096094624	7.7e-05	.	0.0003	0	0	0	0	0.0003	0.0011	0.0008	0.0002264	35	154602	rs374965635	0.0001	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	0	0.0002	0	5.616e-05	0	0.0001	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0003	0	0	0	0.0003	0	9.425e-05	0	0.0004	0	0.0002	0.007	0.59928	D	0.0	0.92824	D	0.997	0.70673	D	0.994	0.82059	D	.	.	.	.	1	0.08975	N	2.25	0.63811	M	2.6	0.13204	T	-2.85	0.60029	D	0.234	0.26354	-1.0838	0.06628	T	0.075	0.30272	T	9	0.11221236	0.21040	T	0.001591	0.02548	T	0.088	0.25558	.	.	0.154104182512	0.14974	0.028440876803967643	0.02794	0.100621667693	0.11367	0.306913733482	0.11440	T	0.008294	0.07627	T	-0.452273	0.01095	T	-0.51635	0.20664	T	0.135841236652924	0.15912	T	0.754325	0.37688	T	0.2285665	0.45577	0.23799306	0.49111	0.2285665	0.45577	0.23799306	0.49110	-3.555	0.17211	T	.	.	0.455	0.62469	A	.	.	2.713635	0.35474	19.91	0.98968269152138499	0.49481	0.01495	0.04959	N	AEFBI	0.026352	0.01964	N	-0.180057984354179	0.33965	1.933126	-0.458011263843188	0.23322	1.271228	1.79699470148217E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.43	1.47	0.21832	0.187000	0.16806	0.087000	0.14465	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.268000	0.23719	0.0:0.8209:0.0:0.1791	4.850	0.12891	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	1	0	0	0	0.02381	843.98	34	chr20	45221448	.	C	G	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e+00;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=-1.860e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:58,35:93:99:858,0,1659	20	0	1	0
chr20	45301396	45301396	C	A	exonic	MATN4	.	nonsynonymous SNV	MATN4:NM_003833:exon5:c.G691T:p.V231F,	.	.	405	1112	5	0	0	5	0.00224316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.025	B	0.067	B	0.969	N	1.000	N	2.135	M	-2.04	D	-0.355	T	0.465	T	0.362	3.047	16.17	-1.97	-0.190	-0.848	13.069	0.367	0.0768439853864	0.0044	0.00119808	0.0036	0.0011	0.0003	0	0.0032	0.0055	0.0034	0.0016	0.0037839	585	154602	rs117930972	0.0057	0.0057	0.0058	0.0056	0.0067	0.0056	0.0055	0.0066	0.0065	0.0008	0.0007	0.0068	2.519e-05	0.0028	0.0010	0.0067	0.0055	0.0017	0.0037	0.0037	0.0040	0.0033	0.0067	0.0034	0.0033	0.0062	0.0060	0.0010	0	0.0007	0.0037	0	0.0024	0	0.0067	0.0019	0.0012	.	.	.	0.094	0.74150	T	0.025	0.19245	B	0.067	0.27542	B	0.968753	0.07764	N	1.018930	0.999992	0.58761	D	2.545	0.74286	M	-2.04	0.85703	D	-2.83	0.67941	D	0.416	0.48411	-0.3547	0.73418	T	0.465	0.79312	T	10	0.012718618	0.00272	T	0.076844	0.72628	D	0.367	0.68670	.	.	0.892668404719	0.89160	0.6889472548172663	0.68834	0.695953659668	0.60835	0.265749633312	0.05595	T	0.30288	0.67526	T	-0.320911	0.06822	T	-0.229177	0.51851	T	0.0559947801699282	0.06523	T	0.918608	0.72522	D	0.6132814	0.73404	0.49997628	0.71091	0.7705081	0.82080	0.5902285	0.76226	-9.874	0.73154	D	0.16280921155331318	0.20020	0.098	0.17911	B	.;.;.	.;.;.	1.062064	0.14436	11.01	0.99397587918076391	0.62656	0.22043	0.21612	N	AEFGBCI	0.162276	0.28843	N	-0.681956351411724	0.16536	0.8433744	-0.736711168161613	0.16049	0.8471967	0.159306856334586	0.17567	0.646311	0.45356	0	0.491513	0.07743	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.89	-1.97	0.07091	-0.596000	0.05816	-10.178000	0.00730	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.793000	0.37436	0.0:0.4902:0.0:0.5098	13.069	0.58462	872	0.31118	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	969.98	41	chr20	45301396	.	C	A	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=819;ExcessHet=0.0000;FS=2.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-2.650e-01;SOR=1.078	GT:AD:DP:GQ:PL	0/1:32,37:69:99:984,0,736	20	0	1	0
chr20	46541318	46541318	C	T	exonic	OCSTAMP	.	nonsynonymous SNV	OCSTAMP:NM_080721:exon3:c.G1657A:p.V553M,	.	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.235	B	0.041	B	.	.	1.000	N	0	N	0.55	T	-1.045	T	0.052	T	0.184	1.245	10.05	2.39	0.958	0.374	6.752	0.053	.	0.0039	0.00479233	0.0092	0.0005	0	0	0.0021	0.0045	0	0.0191	0.0021863	338	154602	rs41283036	0.0059	0.0063	0.0047	0.0068	0.0174	0.0057	0.0056	0.0166	0.0162	0.0010	0.0009	0.0009	9.327e-05	0.0008	0.0070	0.0062	0.0042	0.0174	0.0041	0.0041	0.0041	0.0041	0.0166	0.0038	0.0037	0.0137	0.0126	0.0011	0	0.0010	0.0009	0	0.0003	0.0034	0.0069	0.0028	0.0166	0.126	0.27194	T	0.0	0.92824	D	0.235	0.30743	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.55	0.54728	T	-0.04	0.07590	N	0.106	0.09066	-1.0447	0.15913	T	0.052	0.22153	T	9	0.0036742687	0.00067	T	.	.	.	0.053	0.14996	.	.	0.0666544352282	0.05500	0.4439321696129841	0.44311	.	.	0.352969288826	0.18358	T	0.002521	0.01914	T	-0.55353	0.00278	T	-0.553604	0.16982	T	0.00855540529876737	0.00104	T	0.538946	0.18179	T	0.027286893	0.01899	0.051932193	0.08458	0.027286893	0.01899	0.051932193	0.08457	-4.371	0.29161	T	.	.	0.121	0.25199	B	.	.	1.962532	0.24926	16.58	0.94911563024116052	0.25775	0.06835	0.12859	N	AEFDGBI	0.026489	0.01998	N	-1.00310979624797	0.08538	0.4007426	-1.02828012472796	0.09166	0.4545069	0.640205974196257	0.22046	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	2.39	0.28492	0.380000	0.20331	-0.022000	0.12912	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.8706:0.0:0.1294	6.752	0.22679	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	1725.98	34	chr20	46541318	.	C	T	1725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.750e-01;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.198;SOR=0.758	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1740,0,1535	20	0	1	0
chr20	47651122	47651122	A	0	exonic	NCOA3	.	.	.	.	.	356	888	231	20	27	298	0.132389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4251.95	38	chr20	47651122	.	A	G,*	4251.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-1.168e+00;DP=1198;ExcessHet=0.6776;FS=2.493;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PL	0/1:59,52,0:111:99:1321,0,1694,1465,1841,3718	17	0	3	0
chr20	58439019	58439019	T	G	exonic	VAPB	.	nonsynonymous SNV	VAPB:NM_004738:exon4:c.T390G:p.D130E,	Amyotrophic lateral sclerosis 8, Autosomal dominant;Spinal muscular atrophy, late-onset, Finkel type, Autosomal dominant	.	5	1509	8	0	0	8	0.00264375	.	.	257379	Amyotrophic_lateral_sclerosis_type_8|Inborn_genetic_diseases|not_specified|Adult-onset_proximal_spinal_muscular_atrophy,_autosomal_dominant|not_provided	MONDO:MONDO:0012077,MedGen:C1837728,OMIM:608627,Orphanet:803|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0008453,MedGen:C1854058,OMIM:182980,Orphanet:209335|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.001	B	0.000	D	1.000	D	0.4	N	-0.05	T	-1.017	T	0.096	T	0.038	1.556	11.16	4.38	2.084	1.686	6.134	0.097	0.00767697690241	0.0007	0.000998403	0.0014	0	0.0042	0	0.0003	0.0015	0	0.0007	0.001216	188	154602	rs146459055	0.0007	0.0007	0.0007	0.0008	0.0042	0.0007	0.0007	0.0029	0.0024	2.989e-05	0.0025	0.0054	0	0.0003	0.0042	0.0006	0.0010	0.0007	0.0007	0.0007	0.0007	0.0006	0.0014	0.0006	0.0005	0.0008	0.0006	7.216e-05	0	0.0012	0.0049	0	0.0002	0.0068	0.0007	0.0019	0.0014	0.269	0.16091	T	0.599	0.07972	T	0.0	0.02946	B	0.001	0.04355	B	0.000018	0.62929	D	0.152643	0.996154	0.81001	D	0.85	0.21244	L	-0.05	0.63403	T	-1.42	0.34992	N	0.677	0.68429	-1.0168	0.24755	T	0.096	0.36263	T	10	0.00932765	0.00211	T	0.007677	0.20378	T	0.097	0.27909	0.277	0.23004	0.147330786459	0.14319	0.05608839054146964	0.05549	0.419117525205	0.42472	0.478927195072	0.35909	T	0.131245	0.46063	T	-0.549263	0.00295	T	-0.566992	0.15726	T	0.017787502238044	0.00507	T	0.846215	0.52631	T	0.11105706	0.26245	0.09971356	0.23817	0.10459912	0.24728	0.09309196	0.21971	-2.886	0.09004	T	0.11038164115268624	0.09323	0.099	0.16713	B	.	.	2.891253	0.38292	20.7	0.95911670044801467	0.28161	0.72480	0.35475	D	AEFBCI	0.236160	0.35864	N	-0.38856735492756	0.25875	1.407904	-0.155541574992431	0.33197	1.896382	0.999984446272401	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.48	4.38	0.52019	1.695000	0.37381	1.864000	0.29342	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1438:0.0751:0.0:0.781	6.134	0.19438	506	0.75555	.	.	.	.	.	.	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	1	0	0.04762	1666.08	33	chr20	58439019	.	T	G	1666.08	.	AC=2;AF=0.048;AN=42;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.73;SOR=0.997	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1694,174,0	20	1	0	0
chr20	62327309	62327309	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon38:c.G5036A:p.R1679Q,	.	.	.	.	.	.	.	.	.	.	.	3043975	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.91	T	0.026	B	0.005	B	0.014	N	1.000	N	0.64	N	2.2	T	-0.975	T	0.022	T	0.188	-0.954	0.334	0.751	-0.083	0.088	3.821	0.082	0.0195466682287	7.7e-05	.	5.644e-05	0.0006	0	0	0	0	0	0	2.59e-05	4	154602	rs139647438	3.328e-05	3.489e-05	3.441e-05	3.213e-05	0.0005	2.577e-05	2.279e-05	0.0003	0.0002	0.0005	0	0	0	0	0	2.268e-05	5.038e-05	4.765e-05	0.0001	0.0001	0.0001	6.725e-05	0.0003	6.511e-05	5.322e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	7.35e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.026	0.19406	B	0.005	0.11217	B	0.013942	0.28682	N	0.398510	1	0.08975	N	0.51	0.13489	N	2.2	0.18570	T	-1.17	0.29933	N	0.129	0.12341	-0.9748	0.36170	T	0.022	0.09284	T	10	0.026984632	0.00853	T	0.019547	0.41941	T	0.082	0.23913	.	.	0.308613300994	0.30479	0.23887316252054328	0.23801	.	.	0.458932727575	0.33164	T	0.036612	0.24167	T	-0.516514	0.00461	T	-0.625679	0.10745	T	0.0204304717481136	0.00743	T	0.561944	0.19701	T	0.047277305	0.08055	0.03642525	0.03086	0.047277305	0.08055	0.03642525	0.03086	-4.635	0.32608	T	.	.	0.079	0.07318	B	.	.	1.788077	0.22733	15.74	0.26874591094888961	0.01308	0.05084	0.10881	N	AEFGBHCI	0.057673	0.10764	N	-1.0656003908749	0.07285	0.3379485	-1.03677149889953	0.08985	0.4445603	0.987232909229054	0.31216	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.751	0.17541	0.325000	0.19374	1.617000	0.27666	0.549000	0.26987	0.035000	0.20724	0.950000	0.28999	0.086000	0.17578	0.2662:0.4297:0.0:0.3041	3.821	0.08349	779	0.47767	Laminin IV	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1335.98	39	chr20	62327309	.	C	T	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.10;ReadPosRankSum=-1.690e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1350,0,1122	20	0	1	0
chr20	62813155	62813175	ACCCCTGGGAGCCCATCGGAG	-	exonic	OGFR	.	nonframeshift deletion	OGFR:NM_007346:exon7:c.1540_1560del:p.S517_G523del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1267.94	33	chr20	62813154	.	TACCCCTGGGAGCCCATCGGAG	T	1267.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.619e+00;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.52;MQRankSum=1.38;QD=23.92;ReadPosRankSum=-4.040e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:19,34:53:99:1282,0,694	20	0	1	0
chr20	62813162	62813222	GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA	0	exonic	OGFR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	680.03	55	chr20	62813162	.	GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA	G,*	680.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.204e+00;DP=889;ExcessHet=0.1072;FS=2.557;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.30;ReadPosRankSum=-1.933e+00;SOR=0.470	GT:AD:DP:GQ:PL	0/2:19,0,34:53:99:1282,1339,2137,0,798,694	19	0	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	0/2:19,0,34:53:99:1282,1339,2137,0,798,694	17	1	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	2213.86	12	chr20	62813277	.	A	*,G	2213.86	.	AC=3,6;AF=0.079,0.158;AN=38;BaseQRankSum=-1.555e+00;DP=527;ExcessHet=0.1022;FS=5.579;InbreedingCoeff=0.2459;MLEAC=2,7;MLEAF=0.053,0.184;MQ=54.26;MQRankSum=0.052;QD=19.25;ReadPosRankSum=-3.440e-01;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:4,0,7:11:99:1|0:62813253_AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG_A:264,199,631,0,141,154:62813253	12	1	1	2
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2484.09	12	chr20	62813313	.	G	A,*	2484.09	.	AC=6,3;AF=0.273,0.136;AN=22;BaseQRankSum=1.18;DP=455;ExcessHet=0.3267;FS=2.908;InbreedingCoeff=0.1128;MLEAC=9,3;MLEAF=0.409,0.136;MQ=53.32;MQRankSum=-1.420e-01;QD=23.00;ReadPosRankSum=0.217;SOR=1.040	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,7,0:12:99:1|0:62813253_AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG_A:320,0,159,197,164,626:62813253	4	1	4	10
chr20	62813433	62813433	G	0	exonic	OGFR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1104.12	25	chr20	62813433	.	G	A,*	1104.12	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=1.31;DP=480;ExcessHet=0.0090;FS=0.835;InbreedingCoeff=0.4177;MLEAC=5,2;MLEAF=0.132,0.053;MQ=52.89;MQRankSum=0.203;QD=11.27;ReadPosRankSum=1.31;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,7,0:18:99:.:.:159,0,270,192,290,482	14	1	3	2
chr20	62837209	62837209	G	A	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon30:c.G1730A:p.R577Q,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1611954	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.59	T	1.0	D	0.996	D	0.000	D	1.000	D	1.095	L	-3.37	D	0.540	D	0.814	D	0.597	4.869	27.9	4.8	2.211	4.304	17.843	0.590	0.404568916369	0.0002	0.000199681	0.0004	0	0	0.0001	0.0002	0.0006	0	0.0003	0.0003752	58	154602	rs140377811	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	8.966e-05	8.95e-05	0	0	0.0002	0.0002	0.0003	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.237e-05	0.0001	0.0001	0.0001	0	0	0	0	9.422e-05	0	0.0002	0	0.0004	0.155	0.24183	T	0.024	0.56640	D	1.0	0.90584	D	0.978	0.74104	D	0.000012	0.62929	D	0.068437	0.999959	0.52396	D	0.52	0.13579	N	-3.37	0.94114	D	-1.5	0.36586	N	0.592	0.61172	0.540	0.91103	D	0.814	0.93715	D	10	0.59104776	0.66382	D	0.404569	0.93469	D	0.590	0.83636	.	.	0.893114649504	0.89205	0.4210345473115319	0.42019	0.447049120517	0.44571	0.604531884193	0.53544	T	0.252848	0.62329	T	-0.0858395	0.38762	T	0.00536348	0.70684	D	0.571231544017792	0.35281	D	0.923008	0.71997	D	0.17361823	0.38120	0.14477451	0.34359	0.17361823	0.38119	0.14477451	0.34358	-2.369	0.04946	T	.	.	0.091	0.13174	B	.;.	.;.	5.175755	0.86765	29.0	0.99951800015823744	0.99951	0.94081	0.60055	D	AEFBI	0.812919	0.73553	D	0.415527263851327	0.62275	4.440787	0.427700258513748	0.63295	4.560655	0.999999994370787	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	5.271000	0.65364	11.531000	0.93088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.309000	0.24713	0.0:0.0:1.0:0.0	17.843	0.88632	829	0.39537	.;.	.	.	.	.	.	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	1506.98	36	chr20	62837209	.	G	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.120;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.16;ReadPosRankSum=-7.260e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,39:68:99:0|1:62837209_G_A:1521,0,1100:62837209	20	0	1	0
chr20	63319083	63319083	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon22:c.C2689T:p.P897S,	.	.	433	1079	10	0	0	10	0.00461255	.	.	3307169	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.956	P	0.722	P	0.000	D	1.000	N	1.125	L	4.5	T	-0.922	T	0.009	T	0.352	-0.128	3.373	0.976	-0.060	0.076	7.17	0.071	0.00561344173684	0.0002	.	0.0006	0.0001	8.691e-05	0	0	0.0009	0.0011	0.0006	0.0005175	80	154602	rs200164977	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0012	2.991e-05	0.0004	0.0098	0	0	0.0024	0.0002	0.0009	0.0004	0.0003	0.0003	0.0003	0.0004	0.0002	0.0003	0.0002	6.81e-05	5.092e-05	0	0.0044	0.0002	0.0098	0	0	0	0.0001	0.0010	0.0002	0.19	0.21144	T	0.145	0.35205	T	0.819	0.54666	P	0.334	0.54942	B	0.000171	0.48594	D	0.140481	1	0.08975	N	1.185	0.30054	L	4.5	0.02032	T	-2.89	0.60665	D	0.204	0.22742	-0.9216	0.45334	T	0.009	0.03403	T	10	0.008271068	0.00188	T	0.005613	0.14500	T	0.071	0.20720	.	.	0.257786959452	0.25393	0.1486722946313925	0.14789	0.0376229206276	0.03990	0.524364709854	0.42242	T	0.019398	0.15464	T	-0.447414	0.01169	T	-0.552496	0.17087	T	0.100084526710047	0.12366	T	0.60384	0.22664	T	0.057726633	0.11524	0.08008888	0.18088	0.057726633	0.11524	0.08008888	0.18087	-8.58	0.64957	D	.	.	0.077	0.06387	B	.;.	.;.	0.448904	0.08191	4.926	0.87825934592898192	0.17510	0.07890	0.13880	N	AEFBI	0.103579	0.20749	N	-0.628742977561015	0.18085	0.9360833	-0.795887070540839	0.14595	0.7634494	4.2512773068011E-4	0.06935	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.21	0.976	0.18846	0.078000	0.14615	0.336000	0.17333	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3157:0.376:0.3083:0.0	7.17	0.24889	.	.	Laminin G 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	2090.98	35	chr20	63319083	.	C	T	2090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=908;ExcessHet=0.0000;FS=8.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=0.555;SOR=0.484	GT:AD:DP:GQ:PL	0/1:113,87:200:99:2105,0,2781	20	0	1	0
chr20	63862031	63862031	C	T	exonic	ABHD16B	.	nonsynonymous SNV	ABHD16B:NM_080622:exon1:c.C491T:p.P164L,	.	.	438	1067	16	1	0	18	0.00836431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.153	B	0.019	B	0.001	U	1.000	N	1.59	L	0.79	T	-1.057	T	0.050	T	0.135	1.212	9.921	2.61	0.366	1.187	7.309	0.023	.	0.0078	0.00758786	0.0035	0.0259	0.0037	0	0	0.0021	0.0013	0.0005	0.0033053	511	154602	rs6011194	0.0018	0.0018	0.0018	0.0018	0.0233	0.0017	0.0017	0.0213	0.0207	0.0226	0.0049	0.0105	2.52e-05	2.032e-05	0.0233	0.0008	0.0043	0.0005	0.0078	0.0078	0.0080	0.0075	0.0225	0.0074	0.0072	0.0213	0.0208	0.0225	0	0.0064	0.0098	0	0	0.0170	0.0012	0.0137	0.0002	0.372	0.11478	T	0.311	0.19660	T	0.153	0.28093	B	0.019	0.18783	B	0.000807	0.41658	U	0.157358	0.999981	0.18198	N	1.355	0.33814	L	0.79	0.49068	T	-2.4	0.52776	N	0.193	0.21188	-1.0573	0.12439	T	0.050	0.21456	T	10	0.00417161	0.00083	T	.	.	.	0.023	0.04649	.	.	0.246773566709	0.24272	0.5818548222843871	0.58114	0.502647748094	0.48622	0.412611842155	0.26819	T	0.003824	0.03232	T	-0.565003	0.00237	T	-0.56611	0.15808	T	0.00629099621145202	0.00070	T	0.579042	0.20891	T	0.050344914	0.09082	0.05161922	0.08343	0.050344914	0.09081	0.05161922	0.08342	-5.059	0.37473	T	.	.	0.075	0.05535	B	.	.	1.490981	0.19177	14.13	0.98854030722964048	0.47339	0.13441	0.17858	N	AEFDBHCI	0.050772	0.08907	N	-0.709713287512005	0.15747	0.7963649	-0.744887141531301	0.15848	0.8355254	0.999999471682031	0.74766	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.59	2.61	0.30255	1.292000	0.32948	3.258000	0.37072	0.545000	0.25583	0.008000	0.17931	0.997000	0.33255	0.096000	0.18090	0.0:0.7894:0.0:0.2106	7.309	0.25639	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1258.98	58	chr20	63862031	.	C	T	1258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=947;ExcessHet=0.0000;FS=2.632;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=1.11;SOR=0.460	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1273,0,1375	20	0	1	0
chr21	33511272	33511272	C	T	exonic	GART	.	nonsynonymous SNV	GART:NM_000819:exon17:c.G2294A:p.S765N	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.176	N	1.000	N	1.11	L	2.26	T	-1.009	T	0.027	T	0.048	1.150	9.684	2.26	0.687	0.028	4.549	0.043	0.00820754106356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.272	0.15930	T	0.306	0.19972	T	0.0	0.02946	B	0.001	0.04355	B	0.176279	0.17229	N	0.636881	0.999991	0.08975	N	1.28	0.32218	L	2.26	0.17596	T	-0.39	0.13611	N	0.063	0.03502	-1.0089	0.27261	T	0.027	0.11485	T	10	0.10317451	0.18953	T	0.008208	0.21750	T	0.043	0.11576	0.407	0.44066	0.28297238246	0.27903	0.48847452550041665	0.48767	0.0932375999117	0.10540	0.283710420132	0.08014	T	0.033211	0.22818	T	-0.378459	0.03186	T	-0.781407	0.02411	T	0.0548483468592167	0.06333	T	0.865913	0.56597	D	0.060211282	0.12327	0.058340997	0.10762	0.060211282	0.12327	0.058340997	0.10762	-5.351	0.40445	T	.	.	0.071	0.04681	B	.;.;.	.;.;.	0.876676	0.12494	9.028	0.95456144974075263	0.26983	0.12858	0.17522	N	AEFBHCI	0.057872	0.10816	N	-0.601692097044202	0.18894	0.9845847	-0.516177651924343	0.21714	1.175958	0.999999999508274	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	2.26	0.27418	0.041000	0.13813	0.195000	0.15787	0.599000	0.40250	0.027000	0.20232	0.008000	0.19753	0.661000	0.32996	0.0:0.4465:0.1676:0.386	4.549	0.11505	929	0.16858	PurM-like, C-terminal domain;PurM-like, C-terminal domain;PurM-like, C-terminal 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	882.98	35	chr21	33511272	.	C	T	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=797;ExcessHet=0.0000;FS=4.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.410;SOR=1.179	GT:AD:DP:GQ:PL	0/1:52,33:85:99:897,0,1281	20	0	1	0
chr21	41494370	41494370	G	A	exonic	TMPRSS2	.	nonsynonymous SNV	TMPRSS2:NM_001135099:exon3:c.C335T:p.T112I	.	.	429	1069	24	0	0	24	0.0111008	.	.	705704	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.061	B	0.015	B	0.291	N	1.000	N	1.185	L	0.11	T	-0.701	T	0.331	T	0.482	0.965	8.936	2.45	1.101	0.362	4.167	0.204	.	0.0050	0.00259585	0.0070	0.0018	0.0021	0	0.0103	0.0099	0.0078	0.0044	0.0065976	1020	154602	rs61735793	0.0092	0.0092	0.0092	0.0093	0.0103	0.0091	0.0090	0.0102	0.0101	0.0016	0.0027	0.0078	0	0.0124	0.0054	0.0103	0.0084	0.0046	0.0071	0.0071	0.0074	0.0068	0.0113	0.0068	0.0066	0.0107	0.0104	0.0017	0	0.0070	0.0084	0.0002	0.0077	0.0103	0.0113	0.0052	0.0019	0.108	0.30375	T	0.238	0.27503	T	0.005	0.12996	B	0.011	0.15521	B	0.291495	0.14760	N	0.595751	1	0.08975	N	1.865	0.49290	L	-2.29	0.87830	D	-2.3	0.74427	N	0.207	0.22998	-0.7009	0.60395	T	0.331	0.69843	T	10	0.0059131384	0.00132	T	.	.	.	0.204	0.49076	.	.	0.739343670324	0.73700	0.24467692368200114	0.24381	0.146657270165	0.16552	0.323774218559	0.13992	T	0.124626	0.44978	T	-0.312397	0.07538	T	-0.209837	0.53712	T	0.00135525956842458	0.00013	T	0.605739	0.23564	T	0.047010303	0.07965	0.04055839	0.04409	0.047010303	0.07964	0.04055839	0.04409	-5.659	0.44566	T	.	.	0.083	0.21466	B	.;.;.;.;.;.	.;.;.;.;.;.	0.239755	0.06203	2.651	0.72237763314166381	0.09903	0.03114	0.08053	N	AEFDBI	0.113274	0.22357	N	-0.939352890958234	0.09933	0.4723604	-0.955226339018764	0.10802	0.546421	0.888141719807848	0.25782	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.72	2.45	0.28953	0.251000	0.18025	0.403000	0.18023	-0.132000	0.13132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1558:0.2349:0.6093:0.0	4.167	0.09773	909	0.22467	.;.;.;.;.;.	.	.	.	.	rs61735793	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	2660.98	36	chr21	41494370	.	G	A	2660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.815e+00;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.28;ReadPosRankSum=-1.695e+00;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,70:154:99:0|1:41494369_T_C:2675,0,3316:41494369	20	0	1	0
chr21	41839644	41839644	C	T	exonic	PRDM15	.	nonsynonymous SNV	PRDM15:NM_001040424:exon7:c.G850A:p.V284M	.	.	409	1105	7	1	0	9	0.00405588	.	.	2824774	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.974	D	0.395	B	.	.	1.000	N	0.69	N	3.14	T	-0.980	T	0.014	T	0.067	1.120	9.568	-1.24	-0.216	-0.035	4.934	0.029	0.0224962600895	.	0.000798722	0.0007	0	0.0002	0.0001	0	7.493e-05	0	0.0044	0.0005627	87	154602	rs200127182	0.0004	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	2.987e-05	0.0001	3.826e-05	0	0	0.0017	5.306e-05	0.0005	0.0048	0.0002	0.0002	5.138e-05	0.0003	0.0041	0.0001	0.0001	0.0027	0.0023	0	0	6.532e-05	0	0	0	0	5.879e-05	0.0005	0.0041	0.02	0.68238	D	0.053	0.61642	T	0.974	0.57829	D	0.395	0.44317	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	3.14	0.08721	T	-0.39	0.13611	N	0.253	0.29081	-0.9796	0.35094	T	0.014	0.05657	T	9	0.004703015	0.00099	T	0.022496	0.45395	T	0.029	0.06676	0.291	0.25241	0.043077524339	0.03247	0.1873028831340715	0.18648	0.754488284324	0.63941	0.263549059629	0.05320	T	0.039333	0.25154	T	-0.668023	0.00056	T	-0.732627	0.04210	T	0.0260764487060927	0.01416	T	0.880112	0.59716	D	0.02967756	0.02503	0.0645425	0.12951	0.02967756	0.02502	0.0645425	0.12950	-5.521	0.42351	T	.	.	0.105	0.31708	B	.;.;.;.	.;.;.;.	1.231739	0.16264	12.43	0.995557634473761	0.71459	0.03350	0.08436	N	AEFDBI	0.041485	0.06312	N	-0.745287705308722	0.14762	0.7381015	-0.876710092750686	0.12647	0.6517594	0.958628177900968	0.28374	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.67	-1.24	0.08948	-0.026000	0.12340	0.290000	0.16862	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1352:0.5318:0.0:0.333	4.934	0.13283	981	0.03995	.;.;.;.	.	.	.	.	.	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	3176.11	34	chr21	41839644	.	C	T	3176.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.997;DP=940;ExcessHet=0.1072;FS=3.389;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=2.12;SOR=0.897	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1396,0,1193	19	0	2	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|1:67,9:76:71:0|1:41918930_C_G:71,0,2729:41918930	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|1:67,9:76:71:0|1:41918930_C_G:71,0,2729:41918930	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|1:69,9:78:65:0|1:41918930_C_G:65,0,2772:41918930	12	0	9	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.651	P	0.15	B	0.052	N	1.000	N	1.935	M	1.93	T	-1.030	T	0.042	T	0.298	-0.400	2.125	0.664	-0.152	0.376	4.864	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	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	1	0	0	0	0.119	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,9,0:78:65:0|1:41918930_C_G:65,0,2772,272,2799,3072:41918930	16	0	4	0
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.011	B	0.005	B	0.052	N	1.000	N	1.245	L	1.98	T	-0.968	T	0.029	T	0.147	-0.717	0.918	0.664	-0.152	0.376	4.864	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	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	1	0	0	0	0.119	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,9,0:78:65:0|1:41918930_C_G:65,0,2772,272,2799,3072:41918930	16	0	4	0
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|1:0,102,0:102:99:1|1:44558616_T_G:4511,307,0,4511,307,4511:44558616	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|1:0,100,0:100:99:1|1:44558616_T_G:4451,301,0,4451,301,4451:44558616	0	17	3	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	0/2:154,0,122:276:99:4432,4906,10795,0,5856,5791	3	1	0	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	1/1:0,131:131:99:.:.:3980,393,0	3	11	7	0
chr22	20149762	20149762	G	A	exonic	CCDC188	.	nonsynonymous SNV	CCDC188:NM_001365892:exon4:c.C751T:p.R251C,	.	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	0.76	T	-0.896	T	0.030	T	0.269	3.108	16.39	1.75	1.027	0.669	6.256	0.032	.	.	.	0.0185	0.0418	0.0133	0	0.0833	0.0161	0	0.0168	0.001009	156	154602	rs140968932	0.0003	0.0040	0.0003	0.0003	0.0009	0.0003	0.0003	0.0006	0.0005	0.0009	0.0002	0.0002	0.0001	0.0001	0.0002	0.0003	0.0002	0.0004	3.944e-05	7.224e-05	5.14e-05	2.692e-05	7.239e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	4.413e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.51405	-0.8957	0.48418	T	0.030	0.13023	T	5	0.0076001287	0.00173	T	.	.	.	.	.	.	.	0.487137410055	0.48344	0.2880300405752514	0.28716	.	.	.	.	.	0.153309	0.49410	T	-0.455422	0.01049	T	-0.415928	0.31544	T	0.0792110446656886	0.09885	T	0.746525	0.36724	T	0.09299748	0.21832	0.12022219	0.29014	0.09299748	0.21831	0.12022219	0.29014	-5.198	0.38921	T	.	.	0.320	0.54536	B	.	.	4.814607	0.78358	26.9	0.99857414023084534	0.93639	0.30259	0.24036	N	AEFDGBCI	0.114642	0.22572	N	0.024187269449117	0.42957	2.598166	0.0165763115105079	0.40483	2.416809	0.992194697900315	0.32752	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.11	1.75	0.23707	0.439000	0.21293	2.996000	0.35901	-0.167000	0.11441	0.001000	0.13787	1.000000	0.68203	0.954000	0.50415	0.0:0.1803:0.4496:0.3701	6.256	0.20081	798	0.45050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1166.98	45	chr22	20149762	.	G	A	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=904;ExcessHet=0.0000;FS=5.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.31;MQRankSum=-1.497e+00;QD=8.91;ReadPosRankSum=1.58;SOR=1.185	GT:AD:DP:GQ:PL	0/1:83,48:131:99:1181,0,2110	20	0	1	0
chr22	20858653	20858653	-	GGAGCC	exonic	PI4KA	.	nonframeshift insertion	PI4KA:NM_001362862:exon1:c.72_73insGGCTCC:p.S24_S25insGS	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.33e-05	0	0	0	.	0	0	0.0001	3.84e-05	1	26028	rs775551757	7.811e-05	7.457e-05	7.707e-05	7.917e-05	0.0010	6.565e-05	6.135e-05	0.0007	0.0006	0.0010	0.0009	0	3.394e-05	0	0.0004	1.232e-05	9.042e-05	0.0004	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	0.0003	0	0	0	0	1.472e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	834.94	35	chr22	20858653	.	T	TGGAGCC	834.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=762;ExcessHet=0.0000;FS=1.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.42;ReadPosRankSum=1.05;SOR=0.443	GT:AD:DP:GQ:PL	0/1:21,22:43:99:849,0,796	20	0	1	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	0/1:87,19:106:99:536,0,3555	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	0/1:84,10:94:32:32,0,2264	12	0	9	0
chr22	24868855	24868855	G	A	exonic	SGSM1	.	nonsynonymous SNV	SGSM1:NM_001039948:exon12:c.G1291A:p.V431I	.	.	.	.	.	.	.	.	.	0.9997	0.988	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.954	P	0.454	P	0.001	N	1.000	D	1.385	L	3.2	T	-1.085	T	0.027	T	0.29	1.945	12.46	5.05	2.519	4.940	15.530	0.062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428375094	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.539	0.10714	T	0.511	0.37337	P	0.066	0.27432	B	0.001047	0.40475	N	0.243590	1	0.81001	D	.	.	.	3.29	0.06445	T	-0.13	0.08971	N	0.365	0.40665	-1.0853	0.06353	T	0.027	0.11441	T	10	0.19673869	0.35578	T	0.044757	0.61646	D	0.130	0.35528	0.134	0.03833	0.202312658747	0.19855	0.10247152060561264	0.10177	0.195110510202	0.21846	0.571562886238	0.48899	T	0.00836	0.07680	T	-0.237713	0.15641	T	-0.579235	0.14613	T	0.794788122177124	0.46004	D	0.660634	0.26999	T	0.059132017	0.11982	0.04944427	0.07557	0.059132017	0.11982	0.04944427	0.07557	-3.962	0.23233	T	.	.	0.122	0.25298	B	.;.	.;.	5.135638	0.85965	28.8	0.98935050023063664	0.48826	0.96540	0.69650	D	AEFDBI	0.663171	0.63278	D	0.139985658066367	0.48338	3.047353	0.226901118697597	0.51347	3.317883	0.99999998787568	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.05	5.05	0.67566	5.081000	0.64274	8.226000	0.76832	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.0:1.0:0.0	15.530	0.75692	597	0.68309	.;.	.	.	.	.	.	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	1127.98	35	chr22	24868855	.	G	A	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.464;DP=817;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.00;SOR=0.825	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1142,0,1299	20	0	1	0
chr22	25032673	25032673	T	C	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon2:c.T1606C:p.F536L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.597	N	1.000	N	-0.895	N	.	.	-1.009	T	0.028	T	0.054	0.347	5.884	0.236	0.236	0.134	7.689	0.026	0.00257660700909	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374627169	3.802e-05	3.694e-05	2.545e-05	5.097e-05	0.0012	2.965e-05	2.689e-05	0.0009	0.0008	0.0012	0	0	0	0	0.0005	1.861e-06	0.0002	0	0.0002	0.0002	9.005e-05	0.0002	0.0006	0.0001	9.707e-05	0.0004	0.0004	0.0006	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	0.596781	0.05623	N	1.230860	1	0.08975	N	-0.75	0.01730	N	.	.	.	1.61	0.00644	N	0.091	0.07949	-1.0087	0.27323	T	0.028	0.12103	T	9	0.016078085	0.00338	T	0.002577	0.05206	T	0.026	0.05648	0.127	0.03251	0.0297737177859	0.01360	0.023305093440187014	0.02282	.	.	0.313085228205	0.12373	T	9.64E-4	0.00509	T	-0.338166	0.05516	T	-0.723529	0.04627	T	0.0196572695844929	0.00668	T	0.294771	0.05441	T	0.054676637	0.10523	0.04878288	0.07318	0.054676637	0.10522	0.04878288	0.07318	-1.861	0.02697	T	.	.	0.200	0.48082	B	.;.	.;.	0.361811	0.07345	3.961	0.45241798105238606	0.03536	0.00416	0.02058	N	AEFBI	0.023308	0.01281	N	-1.45616240199449	0.02168	0.09547025	-1.34491495425394	0.03866	0.1812157	0.0569979216602982	0.15076	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.98	0.236	0.14733	0.135000	0.15775	0.289000	0.16851	-0.876000	0.02500	0.034000	0.20669	0.007000	0.19602	0.146000	0.20164	0.0:0.6466:0.0:0.3534	7.689	0.27720	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	1	0	0	0	0.02381	1443.98	36	chr22	25032673	.	T	C	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-3.110e-01;SOR=0.688	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1458,0,1688	20	0	1	0
chr22	25780133	25780133	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon9:c.C2146T:p.R716W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1397723	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.998	D	3.76	H	-1.89	D	0.894	D	0.827	D	0.83	3.110	16.39	4.34	1.222	6.940	14.389	0.799	0.154461098904	7.9e-05	0.000199681	0.0002	0.0005	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs370669904	5.093e-05	5.267e-05	4.923e-05	5.264e-05	0.0002	4.15e-05	3.801e-05	5.869e-05	3.836e-05	0.0001	0	3.858e-05	0	7.718e-05	0.0002	5.321e-05	3.327e-05	2.375e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	7.895e-05	7.216e-05	0	0	0	0	9.416e-05	0	0.0002	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.998041	0.44449	D	3.915	0.96218	H	-1.89	0.84557	D	-7.43	0.94843	D	0.838	0.83371	0.894	0.95595	D	0.827	0.94182	D	10	0.9441782	0.93742	D	0.154461	0.83556	D	0.799	0.93425	.	.	0.955550462803	0.95507	0.8718411209313582	0.87150	0.404533126254	0.41354	0.5344581604	0.43662	T	0.747465	0.93053	D	0.0544266	0.58911	T	0.206846	0.83497	D	0.996365427970886	0.89195	D	0.905809	0.66782	D	0.8853832	0.90115	0.8853867	0.93940	0.8853832	0.90116	0.8853867	0.93941	-7.139	0.55042	T	.	.	0.171	0.37633	B	.;.;.	.;.;.	4.272444	0.65018	24.8	0.99913464179132916	0.98238	0.98236	0.80802	D	AEFDGBI	0.893839	0.83220	D	0.707277734250519	0.80110	7.222172	0.546285370381238	0.71138	5.609577	0.999999584552859	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	4.34	0.51267	3.898000	0.55993	1.364000	0.25903	0.599000	0.40250	0.998000	0.41325	0.964000	0.29435	0.443000	0.27738	0.1486:0.8514:0.0:0.0	14.389	0.66530	982	0.03397	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, 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	1	0	0	0	0	0	0	0.02381	659.98	33	chr22	25780133	.	C	T	659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-3.720e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:27,27:54:99:674,0,593	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	0/1:29,13,0:42:99:493,0,1426,576,1340,1945	17	0	3	0
chr22	29053582	29053582	C	T	exonic	ZNRF3	.	nonsynonymous SNV	ZNRF3:NM_001206998:exon9:c.C2771T:p.P924L	.	.	.	.	.	.	.	.	.	.	.	2305974	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	0.798	N	1.000	N	0	N	3.35	T	-0.948	T	0.011	T	0.084	0.240	5.295	-3.18	-0.369	0.275	7.789	0.082	0.0138458275151	.	.	1.658e-05	0	0	0	0	3.001e-05	0	0	1.94e-05	3	154602	rs772375384	3.08e-05	3.147e-05	3.813e-05	2.339e-05	3.958e-05	2.348e-05	2.096e-05	3e-05	2.672e-05	0	0	0	2.522e-05	0	0	3.958e-05	0	0	6.585e-06	6.57e-06	1.287e-05	0	6.562e-05	0	0	.	.	0	0	6.562e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.375	0.16231	T	0.0	0.02946	B	0.0	0.01387	B	0.798016	0.09345	N	0.885835	0.99999	0.08975	N	0.55	0.14455	N	3.35	0.07125	T	-0.95	0.25332	N	0.031	0.06190	-0.9480	0.41313	T	0.011	0.04227	T	10	0.070913255	0.10381	T	0.013846	0.33560	T	0.082	0.23913	0.112	0.02175	0.043077524339	0.03247	0.1808134346246166	0.18000	0.387601023604	0.40038	0.219023361802	0.01254	T	0.050432	0.28592	T	-0.401946	0.02248	T	-0.707487	0.05426	T	0.0919929017940483	0.11452	T	0.481652	0.14579	T	0.06836914	0.14889	0.04736146	0.06805	0.06836914	0.14889	0.04736146	0.06804	-4.457	0.30322	T	.	.	0.066	0.07650	B	.;.;.	.;.;.	1.161133	0.15498	11.90	0.50612145783248064	0.04415	0.37190	0.25705	N	AEFDBHCI	0.058858	0.11073	N	-1.08598896902474	0.06901	0.3190074	-1.04806115180621	0.08747	0.4316029	0.999520398218034	0.40175	0.646311	0.45356	0	0.588066	0.40923	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	5.98	-3.18	0.04867	0.295000	0.18821	0.267000	0.16613	-0.257000	0.07002	0.994000	0.38300	0.761000	0.26624	0.011000	0.09372	0.1233:0.504:0.0:0.3727	7.789	0.28272	523	0.74147	.;.;.	.	.	.	.	.	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	1530.98	44	chr22	29053582	.	C	T	1530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e-01;DP=1034;ExcessHet=0.0000;FS=2.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.60;ReadPosRankSum=0.187;SOR=0.877	GT:AD:DP:GQ:PL	0/1:103,75:178:99:1545,0,2349	20	0	1	0
chr22	30538899	30538899	G	A	exonic	SEC14L6	.	nonsynonymous SNV	SEC14L6:NM_001193336:exon2:c.C58T:p.R20W,	.	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	D	3.485	M	-2.33	D	0.314	D	0.699	D	0.398	3.282	17.02	0.844	-0.080	2.330	6.911	0.421	.	.	0.00279553	0.0073	0.0010	0.0021	0	0.0252	0.0062	0.0081	0.0078	0.0002305	6	26028	rs9608973	0.0051	0.0051	0.0050	0.0052	0.0211	0.0050	0.0050	0.0180	0.0169	0.0007	0.0025	0.0053	8.366e-05	0.0206	0.0211	0.0045	0.0050	0.0077	0.0049	0.0049	0.0043	0.0055	0.0060	0.0046	0.0045	0.0052	0.0050	0.0010	0	0.0022	0.0060	0.0002	0.0212	0.0170	0.0056	0.0038	0.0060	0.0	0.91255	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.99669	0.43358	D	4.245	0.98026	H	-2.33	0.87910	D	-5.68	0.87223	D	0.342	0.38335	0.314	0.87775	D	0.699	0.89624	D	7	0.008291423	0.00188	T	.	.	.	0.421	0.73005	.	.	0.914993449436	0.91413	0.8568166193691308	0.85644	0.0275583687716	0.02819	0.291940420866	0.09204	T	0.340345	0.70938	T	-0.214602	0.18737	T	-0.0730754	0.65406	T	0.129227198938751	0.15310	T	0.915608	0.69895	D	0.11142177	0.26330	0.13525529	0.32390	0.11142177	0.26330	0.13525529	0.32389	-11.409	0.81853	D	.	.	0.179	0.39029	B	.	.	2.048454	0.26042	16.98	0.99846715317920354	0.92663	0.74829	0.36616	D	AEFDBI	0.328558	0.42918	N	-0.127875198169098	0.36181	2.08796	-0.331579613762432	0.27085	1.500486	0.298767655284456	0.19166	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.33	0.844	0.18083	2.404000	0.44192	-0.340000	0.09823	0.618000	0.50648	0.929000	0.32243	0.000000	0.08366	0.007000	0.07825	0.1088:0.0:0.725:0.1662	6.911	0.23515	340	0.86005	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4259.68	91	chr22	30538899	.	G	A	4259.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.590e-01;DP=1745;ExcessHet=0.3300;FS=0.845;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.688;SOR=0.622	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1321,0,1469	18	0	3	0
chr22	31685748	31685748	T	C	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon9:c.A6235G:p.I2079V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.165	B	0.019	B	0.000	N	1.000	D	-0.255	N	3.36	T	-0.856	T	0.008	T	0.186	0.913	8.713	-1.25	-0.100	-0.262	11.372	0.053	0.0274838708154	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs575667652	7.146e-07	6.84e-07	0	1.449e-06	.	0	0	.	.	0	0	0	0	2.029e-05	0	0	0	0	6.567e-06	6.562e-06	0	1.343e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	0.197	0.20607	T	0.36	0.16964	T	0.165	0.28508	B	0.019	0.18783	B	0.000146	0.49130	N	0.205916	1	0.81001	D	0.05	0.08135	N	3.36	0.05918	T	0.03	0.06612	N	0.11	0.09631	-0.8558	0.51563	T	0.008	0.02679	T	10	0.024404556	0.00670	T	0.027484	0.50293	D	0.053	0.14996	0.176	0.08257	0.043077524339	0.03247	0.659259259361267	0.65862	2.17286694384	0.95518	0.323594212532	0.13966	T	0.004363	0.03768	T	-0.290582	0.09578	T	-0.655177	0.08595	T	0.334392845630646	0.26400	T	0.743426	0.36288	T	0.018805094	0.00404	0.04933542	0.07518	0.018805094	0.00403	0.04933542	0.07518	-4.677	0.33125	T	.	.	0.079	0.07224	B	.	.	0.300864	0.06766	3.282	0.80598643131356795	0.13279	0.02218	0.06456	N	AEFDBCI	0.052276	0.09315	N	-0.836620607101561	0.12381	0.6031894	-0.740253562577387	0.15961	0.842	0.996866803517007	0.35072	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.674467	0.66132	0	.	.	5.64	-1.25	0.08920	-0.248000	0.08872	-0.329000	0.09904	-0.109000	0.15193	0.001000	0.13787	0.000000	0.08366	0.994000	0.71098	0.0:0.5128:0.0:0.4872	11.372	0.48949	134	0.94643	Tantalus-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	1764.98	33	chr22	31685748	.	T	C	1764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.524;DP=866;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=-9.070e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/1:47,64:111:99:1779,0,1182	20	0	1	0
chr22	38586096	38586096	C	A	exonic	FAM227A	.	nonsynonymous SNV	FAM227A:NM_001384270:exon17:c.G1549T:p.A517S,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.002	T	0.051	T	0.071	0.219	5.183	-3.55	-0.751	-0.140	4.500	0.001	0.00212525471675	.	0.000199681	0.0004	0	0	0	0	0	0	0.0010	5.82e-05	9	154602	rs576539997	6.215e-05	5.951e-05	4.37e-05	8.111e-05	0.0010	5.099e-05	4.763e-05	0.0008	0.0007	0	0	0	0	0	0.0004	2.78e-06	6.881e-05	0.0010	3.284e-05	3.281e-05	2.57e-05	4.03e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.18	0.21968	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.01	0.07155	N	0.063	0.03502	-1.0022	0.29284	T	0.051	0.21767	T	5	0.020782381	0.00485	T	0.002125	0.03935	T	0.001	0.00016	0.232	0.16005	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.007098	0.06517	T	-0.614733	0.00119	T	-0.706239	0.05491	T	0.0191120399060652	0.00619	T	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15698	B	.;.	.;.	-0.326778	0.02501	0.294	0.35545244703409512	0.02237	0.00221	0.01247	N	AEFBHI	0.014487	0.00233	N	-1.17778797447224	0.05337	0.2430433	-1.39263466878161	0.03329	0.1551051	5.6317132839383E-4	0.07335	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.83	-3.55	0.04343	-0.314000	0.08132	0.301000	0.16978	-1.660000	0.00814	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5251:0.185:0.29:0.0	4.500	0.11271	727	0.54702	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	260.98	33	chr22	38586096	.	C	A	260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.487;DP=731;ExcessHet=0.0000;FS=2.808;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.55;ReadPosRankSum=-1.400e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/1:33,14:47:99:275,0,778	20	0	1	0
chr22	39225814	39225814	G	A	exonic	PDGFB	.	nonsynonymous SNV	PDGFB:NM_002608:exon6:c.C635T:p.T212M	Basal ganglia calcification, idiopathic, 5, Autosomal dominant;Dermatofibrosarcoma protuberans;Meningioma, SIS-related, Autosomal dominant	.	0	1490	30	2	0	34	0.0112807	.	.	512969	Dermatofibrosarcoma_protuberans|not_provided|not_specified	MONDO:MONDO:0011934,MedGen:C3693482,OMIM:607907,Orphanet:31112|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.032	B	0.016	B	0.542	N	0.993	N	0.345	N	0.93	T	-1.039	T	0.046	T	0.135	2.252	13.49	-1.84	0.107	0.554	1.182	0.026	.	0.0037	0.00319489	0.0056	0.0012	0.0017	0	0.0023	0.0060	0.0055	0.0142	0.0054204	838	154602	rs114786489	0.0063	0.0064	0.0061	0.0066	0.0149	0.0062	0.0062	0.0142	0.0139	0.0012	0.0028	0.0033	7.559e-05	0.0025	0.0042	0.0065	0.0054	0.0149	0.0045	0.0045	0.0044	0.0046	0.0139	0.0042	0.0041	0.0112	0.0102	0.0011	0.0263	0.0041	0.0023	0	0.0013	0	0.0066	0.0052	0.0139	0.1	0.30943	T	0.114	0.36765	T	0.007	0.14184	B	0.004	0.10090	B	0.541526	0.11531	N	0.798927	0.99325	0.23746	N	1.265	0.31966	L	0.93	0.44065	T	-0.65	0.18877	N	0.257	0.35088	-1.0386	0.17740	T	0.046	0.19839	T	10	0.00529024	0.00116	T	.	.	.	0.026	0.05648	.	.	0.258436476835	0.25460	0.2997629068538521	0.29889	0.436062898333	0.43710	0.505595207214	0.39608	T	0.449245	0.79081	T	-0.583624	0.00183	T	-0.599435	0.12859	T	0.00691551287233934	0.00078	T	0.686231	0.29475	T	0.015566687	0.00146	0.028410947	0.01075	0.021147769	0.00703	0.037284758	0.03349	-6.104	0.47141	T	.	.	0.082	0.12132	B	.;.	.;.	2.574122	0.33359	19.32	0.97996070975431393	0.37438	0.24263	0.22339	N	AEFBCI	0.069974	0.13873	N	-0.799490138805889	0.13323	0.6555402	-0.704909117050281	0.16839	0.8926379	0.801800370877876	0.24199	0.67177	0.52595	0	0.588066	0.40923	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.3	-1.84	0.07387	0.778000	0.26393	0.744000	0.21184	-0.106000	0.15538	0.720000	0.28821	0.125000	0.22942	0.856000	0.40543	0.3325:0.1979:0.3403:0.1293	1.182	0.01734	699	0.57969	.;.	.	.	.	.	.	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	2434.11	33	chr22	39225814	.	G	A	2434.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=919;ExcessHet=0.1072;FS=1.014;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.22;SOR=0.785	GT:AD:DP:GQ:PL	0/1:66,44:110:99:1104,0,1717	19	0	2	0
chr22	39418741	39418741	G	A	exonic	TAB1	.	nonsynonymous SNV	TAB1:NM_006116:exon6:c.G560A:p.R187H	.	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.017	N	1.000	D	2.965	M	2.32	T	-0.723	T	0.162	T	0.919	4.705	26.1	4.89	2.539	8.145	18.250	0.469	0.0441738625943	0.0002	0.00119808	0.0006	0	0.0002	0	0.0003	0.0004	0.0022	0.0022	0.0005304	82	154602	rs140879164	0.0005	0.0005	0.0004	0.0006	0.0036	0.0005	0.0004	0.0032	0.0031	2.989e-05	0.0002	0.0011	2.52e-05	0	0.0031	0.0003	0.0007	0.0036	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	7.219e-05	0	0.0002	0.0003	0	0.0003	0	0.0003	0.0005	0.0044	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.97372	D	0.016949	0.27845	N	0.289711	1	0.81001	D	3.58	0.93551	H	2.32	0.16640	T	-4.37	0.77061	D	0.957	0.96644	-0.7230	0.59314	T	0.162	0.49781	T	10	0.1159704	0.21864	T	0.044174	0.61358	D	0.469	0.76355	.	.	0.833701932369	0.83212	0.8499869987663632	0.84960	1.43642037179	0.85895	0.796991467476	0.81506	T	0.404604	0.76102	T	-0.0527564	0.44029	T	0.149337	0.80141	D	0.194534549470721	0.20108	T	0.986201	0.95481	D	0.71293783	0.78769	0.5910687	0.76271	0.71293783	0.78771	0.5910687	0.76272	-12.349	0.86509	D	.	.	0.855	0.80046	P	.;.	.;.	5.858669	0.93846	33	0.99943139847416107	0.99848	0.98343	0.81823	D	AEFBI	0.880297	0.80684	D	0.873474607585982	0.90403	10.38731	0.790624154678768	0.89132	9.851857	0.999999999991149	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	8.333000	0.89937	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	18.250	0.89936	912	0.21483	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase 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	1577.98	40	chr22	39418741	.	G	A	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.402;DP=822;ExcessHet=0.0000;FS=7.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.92;SOR=0.853	GT:AD:DP:GQ:PL	0/1:50,65:115:99:1592,0,1108	20	0	1	0
chr22	42573937	42573937	A	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.A635G:p.Q212R	.	.	428	1066	25	2	1	30	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.001	B	0.340	N	0.851	N	-1.06	N	2.63	T	-0.932	T	0.007	T	0.282	-1.198	0.073	0.677	-0.231	0.253	9.210	0.042	0.00273946324379	0.0018	0.00239617	0.0023	0.0016	0.0004	0.0014	0.0027	0.0032	0.0022	0.0011	0.0030077	465	154602	rs138265477	0.0038	0.0047	0.0038	0.0038	0.0038	0.0037	0.0036	0.0037	0.0037	0.0010	0.0016	0.0099	0.0021	0.0062	0.0037	0.0038	0.0044	0.0026	0.0059	0.0077	0.0058	0.0060	0.0084	0.0055	0.0054	0.0075	0.0073	0.0019	0.0143	0.0049	0.0105	0.0013	0.0062	0.0106	0.0081	0.0048	0.0084	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.340459	0.13971	N	0.660400	1	0.28491	N	-1.545	0.00469	N	2.63	0.12884	T	1.04	0.01350	N	0.018	0.01911	-0.9322	0.43814	T	0.007	0.02518	T	10	0.0032922626	0.00057	T	0.002739	0.05665	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.12637963387391346	0.12563	0.00194193416123	0.00161	0.314020216465	0.12514	T	0.001342	0.00816	T	-0.616796	0.00115	T	-0.649366	0.08998	T	0.00100489590793231	0.00010	T	0.136686	0.03932	T	0.028621312	0.02227	0.04173513	0.04812	0.028621312	0.02227	0.04173513	0.04812	-0.233	0.04655	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.362353	0.02357	0.256	0.69060806457524659	0.08852	0.05371	0.11233	N	AEFDGBCI	0.028698	0.02576	N	-1.69285038434225	0.00867	0.03753006	-1.55999469358862	0.01908	0.08702481	4.14785957651922E-4	0.06899	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	0.677	0.17130	0.374000	0.20232	-0.109000	0.11851	-2.314000	0.00318	0.746000	0.29090	0.000000	0.08366	0.035000	0.13729	0.5051:0.0:0.4949:0.0	9.210	0.36477	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	rs138265477	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	127.11	73	chr22	42573937	.	A	G	127.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=1140;ExcessHet=0.1072;FS=11.950;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.27;MQRankSum=-7.028e+00;QD=0.93;ReadPosRankSum=-2.921e+00;SOR=2.170	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,7:63:63:0|1:42573913_C_T:63,0,2218:42573913	19	0	2	0
chr22	43687497	43687497	A	-	exonic	EFCAB6	.	frameshift deletion	EFCAB6:NM_198856:exon9:c.660delT:p.S220Rfs*5	.	.	460	1060	2	0	0	2	0.000942507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332176428	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4081.07	51	chr22	43687496	.	TA	T	4081.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.45;DP=1300;ExcessHet=0.1072;FS=0.455;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=-5.510e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1867,0,2135	19	0	2	0
chr22	45577061	45577061	G	T	exonic	FBLN1	.	nonsynonymous SNV	FBLN1:NM_006486:exon16:c.G1925T:p.R642L,	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, Autosomal dominant	.	0	1504	18	0	0	18	0.00594845	.	.	268571	FBLN1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.858	P	0.417	B	0.045	N	1.000	D	0.55	N	-1.68	D	-0.253	T	0.376	T	0.71	4.225	22.0	4.54	2.241	5.896	14.574	0.551	0.046547310717	0.0018	0.000399361	0.0017	9.614e-05	0.0027	0	0.0006	0.0023	0.0044	0.0009	0.0015782	244	154602	rs143377110	0.0013	0.0013	0.0012	0.0014	0.0186	0.0013	0.0012	0.0157	0.0146	0.0009	0.0021	0.0127	0	0.0004	0.0186	0.0010	0.0023	0.0010	0.0017	0.0017	0.0014	0.0021	0.0031	0.0015	0.0015	0.0024	0.0022	9.629e-05	0.0505	0.0031	0.0167	0.0002	0.0003	0.0170	0.0013	0.0014	0.0010	0.005	0.63226	D	0.017	0.92824	D	0.858	0.47274	P	0.417	0.44992	B	0.044992	0.23582	N	0.435732	0.998021	0.44427	D	1.735	0.44892	L	-1.78	0.83737	D	-3.19	0.64593	D	0.643	0.65501	-0.2534	0.76268	T	0.376	0.73401	T	10	0.011184275	0.00246	T	0.046547	0.62508	D	0.551	0.81427	.	.	0.815631999301	0.81389	0.7936927725727705	0.79322	1.0843650263	0.77233	0.461398810148	0.33503	T	0.703124	0.91469	D	-0.120787	0.32995	T	0.047863	0.73442	D	0.0553535736537284	0.06416	T	0.871513	0.61048	D	0.19976777	0.41927	0.21708763	0.46361	0.19976777	0.41927	0.21708763	0.46360	-6.885	0.53188	T	.	.	0.219	0.79019	B	.;.	.;.	3.949312	0.57843	23.9	0.99842865535277603	0.92316	0.89333	0.49734	D	AEFBI	0.826185	0.74572	D	0.26061285939923	0.54165	3.582872	0.334114296150176	0.57554	3.921732	0.99953945099933	0.40238	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.54	4.54	0.55220	6.533000	0.73737	6.433000	0.55637	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.974000	0.55675	0.0:0.0:1.0:0.0	14.574	0.67825	889	0.27310	.;.	.	.	.	.	.	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	0	0	0	0	0.02381	2111.98	34	chr22	45577061	.	G	T	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.010e+00;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.077e+00;SOR=0.694	GT:AD:DP:GQ:PL	0/1:91,91:182:99:2126,0,2131	20	0	1	0
chr22	46536878	46536878	G	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.C293G:p.P98R	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.004	B	0.002	B	0.264	U	0.993	N	0	N	-0.2	T	-1.045	T	0.096	T	0.252	1.243	10.04	2.05	0.955	-1.721	3.302	0.050	0.858678672298	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1465526770	1.205e-05	1.231e-05	1.62e-05	7.644e-06	0.0007	6.72e-06	5.18e-06	0.0001	5.322e-05	4.746e-05	0	0	0	0	0.0007	6.572e-06	7.364e-05	2.752e-05	4.712e-05	4.618e-05	5.25e-05	4.146e-05	0.0002	2.156e-05	1.557e-05	5.399e-05	2.866e-05	4.871e-05	0	0.0002	0	0	0	0	3.001e-05	0	0	0.522	0.07211	T	0.234	0.24840	T	0.004	0.12183	B	0.002	0.06944	B	0.264068	0.15257	U	0.502459	0.992895	0.23807	N	0.55	0.14455	N	-0.41	0.69413	T	-1.24	0.31375	N	0.266	0.30118	-1.0447	0.15913	T	0.096	0.36185	T	10	0.17119265	0.31824	T	0.858679	0.98914	D	0.050	0.13987	0.269	0.21735	0.305252298933	0.30134	0.24656596533450545	0.24570	0.76156769911	0.64286	0.845644712448	0.88955	D	0.116125	0.43524	T	-0.137918	0.30222	T	-0.435886	0.29270	T	0.0490674694962522	0.05334	T	0.453455	0.12891	T	0.038059823	0.04999	0.07487225	0.16425	0.038059823	0.04999	0.07487225	0.16425	-2.828	0.08444	T	.	.	0.079	0.07412	B	.	.	1.149791	0.15376	11.80	0.98149227224851776	0.38672	0.03135	0.08088	N	AEFDBCI	0.029506	0.02796	N	-1.00187934797962	0.08565	0.4020537	-0.935256667086079	0.11266	0.5728843	0.999963284198335	0.48965	0.582742	0.33608	0	0.573078	0.20572	0	0.503968	0.08637	0	0.620976	0.48614	0	.	.	2.05	2.05	0.25860	-0.167000	0.09928	1.033000	0.23495	0.454000	0.21428	0.076000	0.22236	0.698000	0.26216	0.023000	0.12082	0.1725:0.2816:0.5458:0.0	3.302	0.06576	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	0.02381	483.98	33	chr22	46536878	.	G	C	483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.253e+00;DP=719;ExcessHet=0.0000;FS=1.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.025;SOR=0.895	GT:AD:DP:GQ:PL	0/1:19,23:42:99:498,0,436	20	0	1	0
chrX	9937400	9937400	G	T	exonic	SHROOM2	.	nonsynonymous SNV	SHROOM2:NM_001320663:exon3:c.G359T:p.G120V	.	.	433	1080	6	3	0	12	0.00552486	.	.	3220449	SHROOM2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.361	B	0.069	B	0.043	N	1.000	P	0.69	N	2.51	T	-1.086	T	0.022	T	0.224	-0.078	3.617	-1.07	-0.216	0.543	1.317	0.029	.	0.0089	0.00980132	0.0049	0.0281	0.0047	0.0046	0	0.0008	0	0.0065	0.003454	534	154602	rs150369562	0.0015	0.0015	0.0014	0.0016	0.0239	0.0014	0.0014	0.0224	0.0217	0.0239	0.0035	0.0034	0.0027	2.497e-05	0.0073	0.0003	0.0030	0.0049	0.0076	0.0077	0.0081	0.0063	0.0231	0.0071	0.0070	0.0217	0.0211	0.0231	0	0.0042	0.0049	0.0051	0	0.0046	0.0005	0.0091	0.0065	0.015	0.52492	D	0.077	0.42436	T	0.361	0.33905	B	0.069	0.27757	B	0.042877	0.01911	N	2.031810	1	0.08975	P	1.1	0.28011	L	2.51	0.44065	T	-2.76	0.71157	D	0.064	0.03613	-1.0864	0.06155	T	0.022	0.09513	T	9	0.0035270452	0.00063	T	.	.	.	0.029	0.06676	.	.	0.477606743035	0.47389	0.18401854649871036	0.18320	0.0929002082005	0.10492	0.426945984364	0.28790	T	0.155189	0.49681	T	-0.703592	0.00035	T	-0.764514	0.02953	T	0.0038654796285825	0.00041	T	0.420158	0.13193	T	0.106283404	0.25131	0.09052009	0.21232	0.106283404	0.25131	0.09052009	0.21232	-4.365	0.29078	T	.	.	0.096	0.15520	B	.;.;.	.;.;.	-0.016838	0.04166	1.004	0.69597972690095622	0.09023	0.28411	0.23546	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998574886012294	0.37226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	-1.07	0.09459	0.312000	0.19147	0.745000	0.21191	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4991:0.164:0.169:0.1679	1.317	0.01981	949	0.11373	.;.;.	.	.	.	.	.	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	1814.98	39	chrX	9937400	.	G	T	1814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=861;ExcessHet=0.0000;FS=7.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-4.000e-03;SOR=1.120	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1829,0,2131	20	0	1	0
chrX	16946888	16946888	-	GCGGCA	exonic	REPS2	.	nonframeshift insertion	REPS2:NM_001080975:exon1:c.27_28insGCGGCA:p.A17_G18insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339902710	0.0002	0.0001	0.0002	0.0001	0.0015	0.0002	0.0001	0.0009	0.0007	0.0014	0.0006	0	0.0015	0.0004	0	0.0001	0.0002	0.0012	0.0005	0.0007	0.0006	0.0005	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0	0	0.0003	0.0005	0	0.0001	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	312.51	4	chrX	16946888	.	G	GGCGGCA	312.51	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.890e-01;DP=175;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=34.72;ReadPosRankSum=1.22;SOR=1.739	GT:AD:DP:GQ:PL	0/1:1,8:9:18:326,0,18	20	0	1	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:38,0,2,36,2,0,0:78:99:1569,1674,3175,1174,2647,2525,0,1520,1391,1411,1575,2934,2397,1294,2966,1674,3175,2647,1520,2934,3175,1674,3175,2647,1520,2934,3175,3175	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:38,0,2,36,2,0,0:78:99:1569,1674,3175,1174,2647,2525,0,1520,1391,1411,1575,2934,2397,1294,2966,1674,3175,2647,1520,2934,3175,1674,3175,2647,1520,2934,3175,3175	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:38,0,2,36,2,0,0:78:99:1569,1674,3175,1174,2647,2525,0,1520,1391,1411,1575,2934,2397,1294,2966,1674,3175,2647,1520,2934,3175,1674,3175,2647,1520,2934,3175,3175	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:38,0,2,36,2,0,0:78:99:1569,1674,3175,1174,2647,2525,0,1520,1391,1411,1575,2934,2397,1294,2966,1674,3175,2647,1520,2934,3175,1674,3175,2647,1520,2934,3175,3175	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:38,0,2,36,2,0,0:78:99:1569,1674,3175,1174,2647,2525,0,1520,1391,1411,1575,2934,2397,1294,2966,1674,3175,2647,1520,2934,3175,1674,3175,2647,1520,2934,3175,3175	8	0	1	0
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:26,2,18,0,0,0,0:46:99:648,634,1827,0,983,987,732,1767,1063,1842,732,1767,1063,1842,1842,732,1767,1063,1842,1842,1842,732,1767,1063,1842,1842,1842,1842	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:26,2,18,0,0,0,0:46:99:648,634,1827,0,983,987,732,1767,1063,1842,732,1767,1063,1842,1842,732,1767,1063,1842,1842,1842,732,1767,1063,1842,1842,1842,1842	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:26,2,18,0,0,0,0:46:99:648,634,1827,0,983,987,732,1767,1063,1842,732,1767,1063,1842,1842,732,1767,1063,1842,1842,1842,732,1767,1063,1842,1842,1842,1842	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:26,2,18,0,0,0,0:46:99:648,634,1827,0,983,987,732,1767,1063,1842,732,1767,1063,1842,1842,732,1767,1063,1842,1842,1842,732,1767,1063,1842,1842,1842,1842	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:26,2,18,0,0,0,0:46:99:648,634,1827,0,983,987,732,1767,1063,1842,732,1767,1063,1842,1842,732,1767,1063,1842,1842,1842,732,1767,1063,1842,1842,1842,1842	7	4	1	0
chrX	44232582	44232582	C	G	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1519C:p.E507Q,	.	.	431	1082	6	3	0	12	0.00551471	.	.	190908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.258	B	0.166	B	0.000	D	0.000	P	1.405	L	-0.31	T	-0.983	T	0.038	T	0.218	2.132	13.09	5.85	2.472	5.249	19.145	0.197	.	0.0016	0.0217219	0.0194	0.0031	0.0831	0.1303	0.0138	0.0017	0.0205	0.0018	0.0089456	1383	154602	rs3747354	0.0050	0.0050	0.0051	0.0046	0.0888	0.0048	0.0048	0.0860	0.0849	0.0008	0.0346	0	0.0888	0.0068	0.0027	0.0011	0.0060	0.0016	0.0064	0.0067	0.0059	0.0076	0.0747	0.0060	0.0059	0.0674	0.0645	0.0014	0	0.0250	0	0.0747	0.0092	0	0.0014	0.0066	0.0023	.	.	.	0.01	0.65728	D	0.258	0.31443	B	0.166	0.35067	B	0.000117	0.50451	D	0.170638	0.0732845	0.36842	P	2.02	0.55341	M	.	.	.	.	.	.	0.112	0.09914	-0.9831	0.34281	T	0.038	0.16203	T	9	0.0062425435	0.00141	T	.	.	.	0.197	0.47942	.	.	.	.	0.8430765146492271	0.84268	0.189476331791	0.21270	0.40534684062	0.25812	T	0.066555	0.32976	T	-0.483765	0.00703	T	-0.410145	0.32208	T	0.00984096645528534	0.00130	T	0.741226	0.36032	T	0.28942853	0.51939	0.28726315	0.54738	0.28942853	0.51939	0.28726315	0.54737	-7.292	0.56138	T	.	.	0.263	0.49721	B	.	.	2.543558	0.32911	19.18	0.99421849844277277	0.63790	0.97979	0.78596	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999999999095	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	5.85	0.93663	5.326000	0.65654	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.228000	0.22680	0.0:1.0:0.0:0.0	19.145	0.93448	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Likely benign	0	0	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	1808.98	36	chrX	44232582	.	C	G	1808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=866;ExcessHet=0.0000;FS=1.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=-1.039e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/1:100,81:181:99:1823,0,2171	20	0	1	0
chrX	45069832	45069832	C	T	exonic	KDM6A	.	nonsynonymous SNV	KDM6A:NM_001291418:exon15:c.C1940T:p.T647M	Kabuki syndrome 2, X-linked dominant	.	1	1240	187	92	2	373	0.13013	.	.	380059	not_specified|Kabuki_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.646	P	0.097	B	0.209	N	1.000	P	0	N	0.76	T	-1.067	T	0.055	T	0.202	0.353	5.916	-2.48	-0.616	-0.793	15.541	0.062	0.153986145614	.	.	0.0002	0	0.0006	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs2230018	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0.0003	5.159e-05	9.944e-05	0	0.0012	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0002	0.0002	3.259e-05	0	9.522e-05	0	0	0	0	0.0003	0.0007	0.0008	0.139	0.25768	T	0.09	0.40267	T	0.646	0.40549	P	0.097	0.30390	B	0.208580	0.16421	N	0.640382	0.999966	0.18878	P	0.345	0.11182	N	0.76	0.49919	T	0.81	0.01839	N	0.052	0.15187	-1.0668	0.10131	T	0.055	0.23110	T	9	0.03868887	0.02304	T	0.153986	0.83517	D	0.062	0.17934	.	.	0.193917141947	0.19028	0.24952797713721842	0.24866	0.11190476299	0.12625	0.237911581993	0.02605	T	0.015006	0.34128	T	-0.617003	0.00115	T	-0.779121	0.02480	T	0.0065993512139926	0.00074	T	0.863414	0.55914	D	0.040850677	0.05909	0.09863973	0.23522	0.053731814	0.10210	0.1197753	0.28907	-5.446	0.41359	T	0.1269424636613506	0.12910	0.068	0.03093	B	.;.;.;.;.	.;.;.;.;.	-1.081137	0.00663	0.018	0.8421640515683424	0.15163	0.07799	0.13795	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999952254868068	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.82	-2.48	0.06052	-0.985000	0.03861	-4.604000	0.02073	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.7711:0.0:0.2289	15.541	0.75790	611	0.66908	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.2381	28040.68	33	chrX	45069832	.	C	A,T	28040.68	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=4.41;DP=1938;ExcessHet=0.0097;FS=0.544;InbreedingCoeff=0.4750;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=-1.040e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/2:98,0,118:216:99:3138,3432,6338,0,2906,2552	14	3	3	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	0/1:140,503:643:99:13997,0,2082	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	0/1:491,137:628:99:2376,0,13817	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	0/1:423,116:539:99:2414,0,13725	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	0/1:364,87:451:99:1807,0,12155	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	0/1:119,280:399:99:8743,0,2423	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|1:253,53:306:99:0|1:55146247_G_C:1402,0,10253:55146247	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|1:249,50,0:299:99:0|1:55146247_G_C:1328,0,10143,2077,10293,12370:55146247	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	0/1:145,134:279:99:3582,0,4360	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|1:235,46:281:99:0|1:55146247_G_C:1224,0,9729:55146247	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|1:235,46,0:281:99:0|1:55146247_G_C:1224,0,9729,1932,9868,11799:55146247	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|1:235,46,0:281:99:0|1:55146247_G_C:1224,0,9729,1932,9868,11799:55146247	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	0/1:75,130:205:99:4137,0,1683	0	1	20	0
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	5/6:0,0,0,0,0,5,6:11:99:433,434,435,434,435,435,434,435,435,435,434,435,435,435,435,251,251,251,251,251,235,183,184,184,184,184,0,167	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	5/6:0,0,0,0,0,5,6:11:99:433,434,435,434,435,435,434,435,435,435,434,435,435,435,435,251,251,251,251,251,235,183,184,184,184,184,0,167	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	5/6:0,0,0,0,0,5,6:11:99:433,434,435,434,435,435,434,435,435,435,434,435,435,435,435,251,251,251,251,251,235,183,184,184,184,184,0,167	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	5/6:0,0,0,0,0,5,6:11:99:433,434,435,434,435,435,434,435,435,435,434,435,435,435,435,251,251,251,251,251,235,183,184,184,184,184,0,167	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	5/6:0,0,0,0,0,5,6:11:99:433,434,435,434,435,435,434,435,435,435,434,435,435,435,435,251,251,251,251,251,235,183,184,184,184,184,0,167	5	3	1	1
chrX	73563364	73563378	CGTCGTCGTCGTCGC	-	exonic	CHIC1	.	nonframeshift deletion	CHIC1:NM_001039840:exon1:c.80_94del:p.P32_S36del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055194208	1.149e-05	1.093e-05	9.892e-06	1.486e-05	0.0001	6.13e-06	4.84e-06	2.988e-05	1.628e-05	0	0	0	0.0001	0	0	9.828e-06	0	2.078e-05	9.289e-06	8.75e-06	1.291e-05	0	1.926e-05	0	0	.	.	0	0	0	0	0	0	0	1.926e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2435.94	33	chrX	73563363	.	ACGTCGTCGTCGTCGC	A	2435.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=908;ExcessHet=0.0000;FS=2.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.137e+00;QD=16.13;ReadPosRankSum=-1.219e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/1:86,65:151:99:2450,0,3349	20	0	1	0
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|1:277,29:306:99:0|1:74591902_T_A:384,0,11526:74591902	8	0	13	0
chrX	87518112	87518117	ACTGGC	-	exonic	KLHL4	.	nonframeshift deletion	KLHL4:NM_019117:exon1:c.219_224del:p.L74_A75del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs746719631	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	7.576e-05	0	0	0	4.939e-05	0	0.0002	2.17e-05	0.0008	7.136e-05	8.702e-05	2.57e-05	0.0002	0.0007	3.463e-05	2.511e-05	0.0001	5.509e-05	3.237e-05	0	0	0	0	0	0	9.395e-05	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2150.94	33	chrX	87518111	.	TACTGGC	T	2150.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.120e-01;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-4.820e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/1:73,57:130:99:2165,0,2893	20	0	1	0
chrX	100850218	100850218	G	A	exonic	NOX1	.	stopgain	NOX1:NM_001271815:exon8:c.C955T:p.R319X	.	.	436	1082	2	2	0	6	0.00276498	.	.	758198	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	1.000	A	.	.	.	.	.	.	.	.	.	4.633	25.4	-0.288	-0.459	3.703	4.623	0.118	.	9.5e-05	0.000794702	0.0002	0	0	0	0	4.199e-05	0.0016	0.0015	0.0002005	31	154602	rs369560908	0.0001	0.0001	9.801e-05	0.0002	0.0015	9.881e-05	9.279e-05	0.0012	0.0011	0	5.681e-05	0	0	0	0.0007	4.278e-05	0.0001	0.0015	8.936e-05	9.575e-05	7.711e-05	0.0001	0.0022	4.808e-05	3.684e-05	0.0010	0.0007	0	0	0	0	0	0	0	7.52e-05	0	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	0.001129	0.40136	N	0.167856	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.929	0.93370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251737	0.78764	D	0.558747	0.95874	D	0.385967433452606	0.28411	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.111888	0.96155	35	0.99761020676472245	0.85091	0.86860	0.46235	D	AEFI	.	.	.	.	.	.	.	.	.	0.00384661828954709	0.10303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.87	-0.288	0.12218	3.953000	0.56407	0.693000	0.20782	0.618000	0.50648	1.000000	0.71638	0.168000	0.23319	0.993000	0.69303	0.1783:0.0:0.5225:0.2992	4.623	0.11852	89	0.96298	FAD-binding 8|FAD-binding domain, ferredoxin reductase-type;FAD-binding 8|FAD-binding domain, ferredoxin reductase-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	669.98	39	chrX	100850218	.	G	A	669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=783;ExcessHet=0.0000;FS=0.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.48;ReadPosRankSum=-9.390e-01;SOR=0.529	GT:AD:DP:GQ:PL	0/1:48,31:79:99:684,0,1221	20	0	1	0
chrX	141906126	141906126	C	0	exonic	MAGEC1	.	.	.	.	.	64	97	38	6	21	71	0.204918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	2402.77	337	chrX	141906126	.	C	T,*	2402.77	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=0.927;DP=4269;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3856;MLEAC=2,4;MLEAF=0.125,0.250;MQ=59.98;MQRankSum=-1.046e+00;QD=7.19;ReadPosRankSum=0.805;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,96,0:203:99:.:.:2409,0,2752,2730,3038,5768	6	0	1	13
chrX	154359007	154359007	T	C	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon26:c.A4451G:p.Q1484R	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	YES	.	.	.	.	.	.	.	.	.	188023	Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Heterotopia,_periventricular,_X-linked_dominant|Melnick-Needles_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_dilatation|Thrombocytopenia|Connective_tissue_disorder|not_provided	MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001724,MedGen:C0265004|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.568	P	0.185	B	0.000	D	1.000	D	0.505	N	-2.04	D	-0.218	T	0.396	T	0.764	3.965	20.3	5.69	1.902	4.133	14.904	0.541	0.135415428427	0.0011	0.000529801	0.0012	0.0005	0.0001	0	0.0007	0.0016	0	0.0014	0.0011255	174	154602	rs200130356	0.0014	0.0014	0.0014	0.0015	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0001	0	0	0.0008	0	0.0017	0.0014	0.0013	0.0008	0.0008	0.0009	0.0007	0.0016	0.0007	0.0007	0.0013	0.0012	0.0002	0	9.318e-05	0	0	0.0002	0.0092	0.0016	0	0.0007	0.119	0.28026	T	0.33	0.18560	T	0.06	0.38507	B	0.063	0.36047	B	0.000024	0.55875	D	0.070231	0.999781	0.49076	D	0.84	0.21119	L	-2.04	0.85703	D	-2.4	0.52776	N	0.477	0.69737	-0.2177	0.77212	T	0.396	0.74844	T	10	0.0398449	0.02505	T	0.135415	0.81787	D	0.541	0.80842	.	.	0.963072075308	0.96268	0.5160326652242518	0.51526	0.551739163039	0.52012	0.398355364799	0.24840	T	0.623533	0.88235	D	-0.102764	0.35968	T	0.0753074	0.75265	D	0.0258719089132402	0.01388	T	0.908809	0.67676	D	0.45605925	0.64425	0.4682193	0.69153	0.40333822	0.60964	0.5360348	0.73190	-5.522	0.42073	T	0.1491582760646051	0.17420	0.108	0.20586	B	.;.;.;.;.	.;.;.;.;.	3.653748	0.51872	23.2	0.99644982529670811	0.76943	0.98745	0.86308	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	5.69	0.88346	4.991000	0.63616	7.891000	0.73051	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:0.0:1.0	14.904	0.70349	81	0.96616	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1448.98	34	chrX	154359007	.	T	C	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.354e+00;DP=775;ExcessHet=0.0000;FS=5.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.46;ReadPosRankSum=-1.930e-01;SOR=0.246	GT:AD:DP:GQ:PL	0/1:31,52:83:99:1463,0,937	20	0	1	0
chrX	155228427	155228427	A	G	exonic	VBP1	.	nonsynonymous SNV	VBP1:NM_001303543:exon4:c.A437G:p.N146S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.248	B	0.112	B	0.000	D	1.000	D	0.59	N	1.04	T	-1.072	T	0.067	T	0.077	1.485	10.91	5.05	1.802	5.883	11.986	0.084	0.025127537451	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1295528091	1.368e-05	1.366e-05	1.498e-05	1.104e-05	0.0005	8.21e-06	6.51e-06	8.525e-05	3.55e-05	0	0	0	0	0	0.0005	1.188e-05	6.515e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.488	0.15157	T	.	.	.	.	.	.	0.000000	0.84330	D	0.084267	0.999921	0.51308	D	.	.	.	1.04	0.40218	T	-0.78	0.23808	N	0.235	0.26475	-1.0716	0.09065	T	0.067	0.27468	T	10	0.33188182	0.50403	T	0.025128	0.48109	D	0.084	0.24469	.	.	0.748486626082	0.74621	0.7655910763476341	0.76508	0.75338876642	0.63892	0.592046022415	0.51783	T	0.023203	0.17756	T	-0.371388	0.03524	T	-0.77125	0.02727	T	0.760936856269836	0.43905	D	0.965003	0.87031	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20972	B	.;.;.	.;.;.	2.884870	0.38188	20.7	0.98707430871616975	0.44996	0.93938	0.59628	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999751209188544	0.42595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	5.05	0.67566	5.874000	0.69399	11.056000	0.85368	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	11.986	0.52438	526	0.73951	.;.;.	.	.	.	.	.	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	1691.98	39	chrX	155228427	.	A	G	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.080e-01;DP=922;ExcessHet=0.0000;FS=0.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.088;SOR=0.687	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1706,0,1338	20	0	1	0