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	NSWES949	WT	HH	HZ	NC
chr1	1333583	1333583	C	T	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon6:c.C1678T:p.R560W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.719	P	0.894	N	1.000	N	1.5	L	-2.46	D	-0.203	T	0.680	D	0.243	1.492	10.94	3.03	0.672	0.909	10.876	0.222	0.164530840919	.	.	4.199e-05	0	0	0	0	7.67e-05	0	0	3.23e-05	5	154602	rs775171243	3.092e-05	3.283e-05	2.189e-05	4.004e-05	0.0003	2.358e-05	2.104e-05	0.0002	0.0002	0	2.237e-05	0	0.0003	0	0.0002	2.159e-05	6.629e-05	2.319e-05	1.313e-05	1.313e-05	1.284e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.011	0.55530	D	0.019	0.59159	D	0.999	0.77913	D	0.719	0.54822	P	0.893623	0.08670	N	0.952315	1	0.08975	N	1.735	0.44892	L	-2.46	0.88924	D	-3.42	0.67241	D	0.206	0.22870	-0.2034	0.77583	T	0.680	0.88940	D	10	0.3914526	0.54921	T	0.164531	0.84361	D	0.222	0.51872	0.493	0.58048	0.68171440691	0.67900	0.6084549249116443	0.60777	.	.	0.445022284985	0.31263	T	0.531608	0.83801	D	-0.121109	0.32943	T	-0.252264	0.49592	T	0.521421551704407	0.33417	D	0.864914	0.56300	D	0.08596081	0.19961	0.07769734	0.17334	0.08596081	0.19961	0.07769734	0.17333	-7.279	0.56046	T	.	.	0.185	0.40032	B	.	.	2.539158	0.32839	19.16	0.99697965911780906	0.80385	0.19637	0.20738	N	AEFDGBHCI	0.149532	0.27364	N	-0.464912231151988	0.23237	1.246438	-0.648867256746001	0.18245	0.9738311	0.999996661764298	0.74766	0.679555	0.55442	0	0.550933	0.16991	0	0.600882	0.32295	2	0.664235	0.64389	0	.	.	4.16	3.03	0.34070	0.870000	0.27662	1.243000	0.25119	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6865:0.3135:0.0:0.0	10.876	0.46120	779	0.47767	.	.	.	.	.	.	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	2025.98	39	chr1	1333583	.	C	T	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.816;DP=1147;ExcessHet=0.0000;FS=3.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=-8.710e-01;SOR=0.426	GT:AD:DP:GQ:PL	0/1:57,74:131:99:2040,0,1428	20	0	1	0
chr1	1628684	1628684	G	A	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170688:exon15:c.G2314A:p.A772T	.	.	406	1107	9	0	0	9	0.00404858	.	.	696233	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.583	P	0.234	B	0.258	N	0.976	N	1.1	L	1.3	T	-1.023	T	0.084	T	0.309	0.935	8.810	2.91	0.817	0.434	7.378	0.011	0.0316488626096	0.0024	0.000199681	0.0040	0.0008	0.0033	0	0	0.0068	0.0043	0.0009	0.0018111	280	154602	rs201947158	0.0036	0.0036	0.0036	0.0036	0.0068	0.0035	0.0035	0.0048	0.0042	0.0009	0.0019	0.0004	0	0.0001	0.0068	0.0043	0.0026	0.0014	0.0026	0.0026	0.0026	0.0025	0.0044	0.0023	0.0023	0.0036	0.0033	0.0010	0.0066	0.0044	0	0	0	0.0102	0.0038	0.0009	0.0021	0.109	0.29288	T	0.31	0.32891	T	0.011	0.15914	B	0.013	0.16460	B	0.258115	0.15371	N	0.626746	0.976259	0.25385	N	.	.	.	1.26	0.66834	T	-1.07	0.27876	N	0.198	0.29544	-1.0232	0.22671	T	0.084	0.32757	T	10	0.007967323	0.00181	T	0.031649	0.53678	D	0.011	0.01250	.	.	0.588023434665	0.58477	0.5382174987818832	0.53746	0.61582868066	0.56069	0.594121456146	0.52076	T	0.272434	0.64482	T	-0.399934	0.02317	T	-0.347535	0.39488	T	0.0778941512107849	0.09715	T	0.911709	0.69895	D	.	.	.	.	.	.	.	.	-5.033	0.37579	T	.	.	0.071	0.10545	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.456864	0.31646	18.80	0.98677947745528782	0.44568	0.55090	0.29777	D	AEFDGBHCI	0.102406	0.20544	N	-0.0366209441383794	0.40202	2.383496	-0.0195370043239827	0.38834	2.293616	0.999999570136493	0.74766	0.72623	0.87236	0	0.581341	0.33841	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	3.83	2.91	0.32903	0.084000	0.14738	2.728000	0.34366	0.614000	0.49286	0.009000	0.18154	1.000000	0.68203	0.997000	0.79791	0.217:0.0:0.783:0.0	7.378	0.26015	809	0.43032	.;.;.;.;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	468.98	31	chr1	1628684	.	G	A	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.697e+00;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.669;SOR=0.631	GT:AD:DP:GQ:PL	0/1:19,18:37:99:483,0,582	20	0	1	0
chr1	7738432	7738432	C	T	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349613:exon6:c.C1261T:p.R421C	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.905	P	0.000	D	1.000	D	1.7	L	1.99	T	-1.066	T	0.098	T	0.824	3.061	16.22	3.93	2.424	1.484	12.851	0.193	0.0352507202143	.	.	.	.	.	.	.	.	.	.	.	.	.	rs374903153	5.473e-06	5.472e-06	8.167e-06	2.75e-06	7.194e-06	2.35e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.049	0.48336	D	0.998	0.73220	D	0.772	0.56930	P	0.000000	0.84330	D	0.000000	0.999819	0.49394	D	1.95	0.52479	M	1.98	0.21865	T	-3.6	0.69357	D	0.563	0.58713	-1.0661	0.10293	T	0.098	0.36703	T	10	0.61075574	0.67431	D	0.035251	0.56218	D	0.193	0.47281	.	.	0.670222840295	0.66744	0.41823707182858655	0.41739	1.41059660293	0.85437	0.336261719465	0.15878	T	0.183742	0.53618	T	0.0860727	0.62745	D	-0.114139	0.62280	T	0.986872911453247	0.77488	D	0.972103	0.89869	D	0.4060008	0.61146	0.3404536	0.59797	0.4060008	0.61147	0.3404536	0.59797	-3.693	0.19215	T	0.1473393957829106	0.17068	0.128	0.27343	B	.	.	4.923297	0.81112	27.5	0.99919089684638029	0.98654	0.89652	0.50254	D	AEFDBI	0.447302	0.50300	N	0.478472409093613	0.65833	4.872675	0.457110820202858	0.65176	4.79071	0.025474128461117	0.13651	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.92	3.93	0.44666	1.487000	0.35149	4.743000	0.44617	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.2828:0.7172:0.0:0.0	12.851	0.57244	787	0.46738	.	.	.	.	.	.	Uncertain significance	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	861.98	34	chr1	7738432	.	C	T	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=764;ExcessHet=0.0000;FS=0.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-2.790e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:43,32:75:99:876,0,1117	20	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.031	N	1.000	N	0.46	N	3.34	T	-0.965	T	0.008	T	0.041	-0.002	4.003	-6.6	-1.007	-4.202	1.562	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	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	0.2778	864.06	40	chr1	7933282	.	T	C	864.06	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.070e-01;DP=693;ExcessHet=6.5132;FS=112.254;InbreedingCoeff=-0.4232;MLEAC=12;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=2.69;ReadPosRankSum=0.238;SOR=9.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,10:41:21:.:.:21,0,672	8	0	10	3
chr1	9007331	9007331	C	T	exonic	SLC2A7	.	nonsynonymous SNV	SLC2A7:NM_207420:exon10:c.G1171A:p.A391T,	.	.	.	.	.	.	.	.	.	.	.	3332557	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.812	P	0.418	B	0.254	U	1.000	N	1.83	L	0.28	T	-0.983	T	0.143	T	0.087	1.735	11.76	0.676	-0.047	0.106	0.728	0.109	0.0129575528599	7.7e-05	0.000199681	5.783e-05	9.673e-05	0.0003	0.0002	0	0	0	0	6.47e-05	10	154602	rs371136367	4.72e-05	4.72e-05	4.492e-05	4.95e-05	0.0003	3.794e-05	3.476e-05	0.0001	0.0001	0.0001	0.0002	0	0.0003	3.744e-05	0.0002	3.507e-05	1.656e-05	2.319e-05	6.565e-05	6.562e-05	8.994e-05	4.027e-05	0.0004	3.514e-05	2.614e-05	6.83e-05	4.29e-05	0.0001	0	6.531e-05	0	0.0004	0	0	1.47e-05	0	0	0.161	0.23631	T	0.171	0.30339	T	0.812	0.45431	P	0.418	0.45020	B	0.253742	0.15455	U	0.554792	1	0.08975	N	2.29	0.65257	M	0.28	0.59037	T	-2.1	0.47852	N	0.281	0.31814	-0.9830	0.34305	T	0.143	0.46404	T	10	0.066818744	0.09221	T	0.012958	0.31981	T	0.109	0.30843	.	.	0.349204839081	0.34528	0.47474260077498426	0.47393	0.0854793780599	0.09655	0.274280190468	0.06707	T	0.11089	0.42595	T	-0.412449	0.01915	T	-0.510221	0.21292	T	0.0856035975884319	0.10688	T	0.187281	0.01953	T	0.16223036	0.36286	0.19069505	0.42486	0.16223036	0.36286	0.19069505	0.42485	-5.466	0.41549	T	.	.	0.098	0.16319	B	.	.	0.910945	0.12853	9.366	0.98395393246390717	0.41010	0.06036	0.12004	N	AEFDBI	0.054345	0.09874	N	-0.453936056542211	0.23607	1.268891	-0.533571723942291	0.21243	1.148297	0.0980620037477851	0.16295	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.8	0.676	0.17125	0.036000	0.13706	-11.058000	0.00639	-0.233000	0.07663	0.039000	0.20931	0.000000	0.08366	0.842000	0.39752	0.3506:0.2827:0.197:0.1697	0.728	0.00891	911	0.21964	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1119.98	36	chr1	9007331	.	C	T	1119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.140e-01;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.06;ReadPosRankSum=1.38;SOR=0.643	GT:AD:DP:GQ:PL	0/1:88,51:139:99:1134,0,2207	20	0	1	0
chr1	9735908	9735908	C	T	exonic	CLSTN1	.	nonsynonymous SNV	CLSTN1:NM_001302883:exon11:c.G1654A:p.E552K	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.983	D	0.563	P	0.000	D	1.000	D	1.735	L	1.38	T	-1.018	T	0.132	T	0.344	3.085	16.30	5.77	2.724	4.859	19.998	0.139	0.0209533776782	0.0003	.	0.0003	9.628e-05	8.645e-05	0	0	0.0004	0	0.0005	0.0002393	37	154602	rs201640412	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	0	8.944e-05	0.0032	0	0	0.0023	5.755e-05	0.0002	0.0006	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.406e-05	0	0.0003	0.0049	0	0	0	8.82e-05	0	0.0010	0.034	0.44029	D	0.065	0.44702	T	0.971	0.60381	D	0.359	0.49647	B	0.000017	0.62929	D	0.152343	0.99999	0.58761	D	1.845	0.48678	L	1.38	0.34050	T	-2.46	0.55339	N	0.351	0.39254	-1.0177	0.24463	T	0.132	0.44425	T	10	0.011742651	0.00255	T	0.020953	0.43640	T	0.139	0.37390	.	.	0.362933182269	0.35899	0.606083415066718	0.60539	0.308157786748	0.33120	0.356569766998	0.18885	T	0.274853	0.64737	T	-0.338137	0.05518	T	-0.374055	0.36415	T	0.0625571763639411	0.07565	T	0.819018	0.47665	T	0.27921283	0.50972	0.21769476	0.46444	0.27921283	0.50972	0.21769476	0.46443	-6.069	0.46853	T	.	.	0.081	0.09627	B	.;.;.	.;.;.	3.217154	0.43821	21.8	0.99838421666627597	0.91886	0.98062	0.79276	D	AEFDBCI	0.619557	0.60495	D	0.237506826046717	0.53026	3.473315	0.216267102189253	0.50749	3.26375	0.999999991845207	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	4.936000	0.63206	3.341000	0.37707	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.682000	0.33600	0.0:1.0:0.0:0.0	19.998	0.97395	819	0.41190	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2759.98	35	chr1	9735908	.	C	T	2759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=979;ExcessHet=0.0000;FS=1.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=1.07;SOR=0.589	GT:AD:DP:GQ:PL	0/1:108,111:219:99:2774,0,2569	20	0	1	0
chr1	10321829	10321829	A	G	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon22:c.A2192G:p.N731S	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	238114	not_provided|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_2|not_specified|Neuroblastoma	MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MedGen:CN169374|Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.969	D	0.000	N	1.000	D	2.29	M	-1.25	T	-0.490	T	0.204	T	0.034	3.622	18.43	-1.04	-0.370	5.008	5.590	0.373	.	0.0002	0.00778754	0.0047	0.0002	0.0002	0.0452	0.0109	0.0013	0.0077	0.0002	0.0041009	634	154602	rs117525287	0.0019	0.0019	0.0020	0.0019	0.0430	0.0019	0.0019	0.0413	0.0406	0.0001	0.0002	0	0.0430	0.0122	0.0007	0.0002	0.0032	0.0004	0.0027	0.0027	0.0021	0.0034	0.0425	0.0025	0.0024	0.0379	0.0361	0.0003	0	0.0004	0	0.0425	0.0125	0	0.0005	0.0019	0.0010	0.01	0.59928	D	0.008	0.69154	D	0.974	0.70673	D	0.969	0.72001	D	0.000007	0.62929	N	0.142496	0.999848	0.52396	D	2.8	0.81625	M	-1.25	0.79072	T	-4.12	0.75854	D	0.377	0.41853	-0.4905	0.68991	T	0.204	0.56128	T	10	0.008233219	0.00187	T	.	.	.	0.373	0.69188	.	.	0.85986107607	0.85850	0.8545034573972254	0.85413	1.09154679072	0.77449	0.731094121933	0.71666	T	0.82017	0.95594	D	-0.451757	0.01103	T	-0.388113	0.34772	T	0.0493439212441444	0.05384	T	0.887111	0.61653	D	0.16564092	0.36849	0.16185565	0.37626	0.14912535	0.34012	0.16083634	0.37440	-12.573	0.87835	D	.	.	0.518	0.70357	A	.;.;.;.;.	.;.;.;.;.	3.126864	0.42236	21.5	0.99455562274353237	0.65530	0.94524	0.61445	D	AEFBI	0.304397	0.41211	N	0.0547612606146839	0.44363	2.711658	-0.068092361401802	0.36717	2.140418	0.00249266329175324	0.09478	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.47	-1.04	0.09555	5.040000	0.63987	4.684000	0.44334	-0.042000	0.17409	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.6303:0.0:0.2568:0.1128	5.590	0.16579	230	0.91032	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	1237.98	33	chr1	10321829	.	A	G	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.506;SOR=0.766	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1252,0,1043	20	0	1	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|1:123,69:192:99:0|1:10326244_G_C:1350,0,4248:10326244	8	0	13	0
chr1	12009684	12009684	T	C	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon17:c.T2162C:p.I721T	Charcot-Marie-Tooth disease, axonal, type 2A2A, Autosomal dominant;Charcot-Marie-Tooth disease, axonal, type 2A2B, Autosomal recessive;Hereditary motor and sensory neuropathy VIA, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	556584	Charcot-Marie-Tooth_disease_type_2|Inborn_genetic_diseases	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.345	B	0.517	P	0.000	N	1.000	D	2.625	M	-4.27	D	1.044	D	0.927	D	0.776	4.246	22.1	5.28	2.217	7.525	14.558	0.868	0.338733812531	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs150946795	6.156e-06	6.156e-06	5.445e-06	6.875e-06	0.0002	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.052	0.47581	T	0.345	0.33546	B	0.517	0.48105	P	0.000088	0.51296	N	0.167380	0.999999	0.81001	D	1.545	0.39105	L	-4.27	0.97101	D	-3.34	0.66325	D	0.546	0.57263	1.044	0.97981	D	0.927	0.97598	D	10	0.73856413	0.74794	D	0.338734	0.91955	D	0.868	0.96022	.	.	0.918256240627	0.91743	0.6251870485183565	0.62451	0.529254811961	0.50493	0.554426789284	0.46480	T	0.835611	0.96117	D	0.292233	0.82338	D	0.245642	0.85415	D	0.851077497005463	0.50259	D	0.918408	0.70674	D	0.46116176	0.64743	0.40530223	0.64934	0.46116176	0.64743	0.40530223	0.64934	-6.814	0.52663	T	0.25146447352264123	0.34027	0.101	0.17615	B	.;.	.;.	4.022701	0.59421	24.1	0.99817598721020739	0.90061	0.97407	0.74553	D	AEFDBCI	0.892314	0.82912	D	0.481066079994326	0.65986	4.891917	0.534211347126823	0.70306	5.485957	0.999999999882782	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	5.949000	0.69973	7.806000	0.69288	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.558	0.67703	774	0.48577	Fzo/mitofusin HR2 domain;Fzo/mitofusin HR2 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	968.98	33	chr1	12009684	.	T	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.506;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-2.330e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,40:93:99:983,0,1405	20	0	1	0
chr1	12111999	12111999	G	A	exonic	TNFRSF8	.	nonsynonymous SNV	TNFRSF8:NM_001281430:exon6:c.G445A:p.V149M	.	.	422	1099	1	0	0	1	0.000454752	.	.	2214974	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	1.0	D	1.0	D	0.000	N	1.000	D	2.16	M	-2.81	D	0.231	D	0.848	D	0.613	3.049	16.17	3.85	2.444	3.808	11.589	0.529	0.0939917334242	7.7e-05	.	4.996e-05	0	0	0.0005	0	3.028e-05	0	0	5.82e-05	9	154602	rs141023619	2.326e-05	2.326e-05	2.314e-05	2.338e-05	0.0003	1.674e-05	1.477e-05	0.0002	0.0001	0	0	0	0.0003	0	0	1.529e-05	6.624e-05	2.319e-05	4.594e-05	4.593e-05	3.853e-05	5.368e-05	0.0006	2.107e-05	1.525e-05	0.0002	8.375e-05	7.213e-05	0	0	0	0.0006	0	0	1.47e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.00162	N	18.782400	0.815353	0.34699	D	2.195	0.61839	M	-2.81	0.91134	D	-2.15	0.48687	N	0.593	0.61256	0.231	0.86426	D	0.848	0.94943	D	10	0.65847814	0.70013	D	0.093992	0.76172	D	0.529	0.80128	.	.	0.78654609881	0.78457	0.6241590821087739	0.62348	0.781399682916	0.65310	0.548348546028	0.45625	T	0.368532	0.73341	T	-0.0536323	0.43895	T	0.0151857	0.71318	D	0.376469466780939	0.28047	T	0.89791	0.64303	D	0.18206774	0.39407	0.18644154	0.41817	0.18206774	0.39407	0.18644154	0.41816	-7.214	0.56522	T	.	.	0.775	0.76143	P	.;.	.;.	4.831363	0.78788	27.0	0.99859612441037993	0.93820	0.87069	0.46499	D	AEFDBI	0.293148	0.40384	N	0.537200381781179	0.69307	5.338269	0.447219869589566	0.64537	4.711287	0.562864320538773	0.21428	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.85	3.85	0.43556	3.832000	0.55485	8.923000	0.78398	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.380000	0.26335	0.0:0.0:1.0:0.0	11.589	0.50193	853	0.34956	.;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 8, 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	1125.98	36	chr1	12111999	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.270e-01;DP=785;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.94;SOR=0.941	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1140,0,952	20	0	1	0
chr1	13198855	13198855	C	T	exonic	PRAMEF13	.	stopgain	PRAMEF13:NM_001291380:exon3:c.G339A:p.W113X,	.	.	983	538	1	0	0	1	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187720908	3.744e-05	3.404e-05	3.589e-05	3.898e-05	0.0006	2.492e-05	2.081e-05	0.0004	0.0003	0	0	0	0.0006	0	0	1.108e-05	7.301e-05	0	4.319e-05	3.683e-05	0	9.116e-05	0.0007	1.147e-05	6.18e-06	0.0001	5.076e-05	0	0	0	0	0.0007	0	0	3.822e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.008848	0.30636	N	0.319304	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.262935	0.64797	24.7	0.98237260034390927	0.39449	0.01579	0.05145	N	AEFI	.	.	.	-0.122519210791451	0.36413	2.104416	-0.519695957106637	0.21619	1.170366	2.21208970121553E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	1.14	0.19817	0.332000	0.19494	0.751000	0.21237	0.284000	0.18682	0.136000	0.23442	0.000000	0.08366	0.018000	0.11154	0.0:1.0:0.0:0.0	5.624	0.16750	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2116.29	33	chr1	13198855	.	C	T	2116.29	.	AC=2;AF=0.083;AN=24;DP=474;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7184;MLEAC=3;MLEAF=0.125;MQ=50.76;QD=32.56;SOR=0.854	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2134,195,0	11	1	0	9
chr1	13308568	13308568	T	C	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.T1106C:p.L369P,	.	.	679	828	13	2	0	17	0.0101614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201731777	0.0009	0.0017	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0009	0.0001	4.652e-05	0.0006	0.0032	0	0.0009	0.0010	0.0003	0.0008	0.0018	0.0008	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0005	0	0.0001	0	0.0006	0.0002	0	0.0013	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1523625	0.28782	T	.	.	.	.	.	.	.	.	.	0.7705504389889053	0.77004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22186215	0.44772	0.23266211	0.48433	0.22186215	0.44772	0.23266211	0.48432	-9.303	0.69626	D	.	.	0.429	0.61140	A	.	.	1.867573	0.23722	16.13	0.30924229698854228	0.01717	0.00334	0.01740	N	AEFI	.	.	.	.	.	.	.	.	.	1.55844724575657E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0434673	0.02580	0.822	0.822	0.17944	0.086000	0.14780	0.350000	0.17468	0.229000	0.18133	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	3.983	0.08994	.	.	.	.	.	.	.	.	Uncertain significance	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	0.07895	78.98	6	chr1	13308568	.	T	C	78.98	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.480e+00;DP=491;ExcessHet=0.3476;FS=28.099;InbreedingCoeff=-0.0989;MLEAC=3;MLEAF=0.079;MQ=30.00;MQRankSum=-5.490e-01;QD=3.04;ReadPosRankSum=-1.465e+00;SOR=3.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,2:9:36:.:.:36,0,217	16	0	3	2
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.073	B	0.06	B	0.141	N	1.000	N	0.895	L	4.64	T	-0.936	T	0.014	T	0.276	1.481	10.90	1.3	0.164	-0.009	4.527	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	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	0.1429	596.83	142	chr1	15518245	.	C	T	596.83	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.421e+00;DP=1813;ExcessHet=1.7912;FS=165.634;InbreedingCoeff=-0.1592;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.402;SOR=11.152	GT:AD:DP:GQ:PL	0/1:101,37:138:99:229,0,2376	15	0	6	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.998	D	0.852	P	0.000	D	0.979	N	1.955	M	2.29	T	-1.078	T	0.076	T	0.404	2.415	14.03	4.1	0.866	2.104	9.034	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	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	0.1071	64.26	74	chr1	15559540	.	G	C	64.26	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-4.176e+00;DP=2293;ExcessHet=0.3300;FS=213.033;InbreedingCoeff=-0.1831;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=0.759;SOR=10.704	GT:AD:DP:GQ:PL	0/1:98,31:129:35:35,0,2158	11	0	3	7
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	0/1:632,94:726:99:887,0,18917	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	0/1:859,130:989:99:970,0,23684	3	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:606,343:949:99:.:.:9498,0,19576	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:810,115:925:99:.:.:707,0,30288	7	0	13	1
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	0/1:416,292:708:99:7509,0,15354	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	0/1:380,319:699:99:7736,0,13750	1	0	20	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1429	7171.99	1271	chr1	16567226	.	A	C	7171.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.095;DP=12314;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1651;MLEAC=6;MLEAF=0.143;MQ=57.63;MQRankSum=-1.564e+00;QD=0.89;ReadPosRankSum=0.304;SOR=0.650	GT:AD:DP:GQ:PL	0/1:1373,262:1635:99:3351,0,37668	15	0	6	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1	1480.07	652	chr1	16569091	.	T	C	1480.07	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.204e+00;DP=5353;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=4;MLEAF=0.100;MQ=43.09;MQRankSum=-2.580e+00;QD=0.65;ReadPosRankSum=-4.830e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:545,72:617:99:187,0,13881	16	0	4	1
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|1:72,18:90:99:0|1:16579293_A_G:539,0,2945:16579293	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|1:72,18:90:99:0|1:16579293_A_G:539,0,2945:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,13:88:99:.:.:264,0,2345	3	0	18	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:53,29:82:99:769,0,1646	2	7	12	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H,	.	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	.	.	.	.	.	.	-0.445	T	0.276	T	0.209	2.959	15.86	.	0.502	5.217	6.740	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1905	3282.72	39	chr1	16760446	.	C	T	3282.72	.	AC=8;AF=0.190;AN=42;BaseQRankSum=2.49;DP=5013;ExcessHet=3.5521;FS=14.600;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.190;MQ=45.78;MQRankSum=-1.759e+00;QD=1.55;ReadPosRankSum=-3.770e-01;SOR=2.106	GT:AD:DP:GQ:PL	0/1:163,34:197:99:514,0,4660	13	0	8	0
chr1	16961117	16961117	C	G	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon27:c.C4392G:p.D1464E,	.	.	446	1058	16	2	0	20	0.0093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	1.04	T	-0.997	T	0.030	T	0.012	-0.741	0.844	-6.7	-1.655	-4.665	0.659	0.056	.	.	0.0145767	0.0964	0	0	0	.	0	0.2	0.1130	0.0020892	323	154602	rs370892836	0.0026	0.0029	0.0015	0.0038	0.0540	0.0025	0.0025	0.0523	0.0516	0.0003	0.0002	0	3.687e-05	7.125e-05	0.0018	0.0002	0.0037	0.0540	0.0018	0.0018	0.0010	0.0027	0.0539	0.0017	0.0016	0.0485	0.0464	0.0002	0	0.0002	0	0.0002	0.0002	0	5.891e-05	0.0005	0.0539	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.04	0.40218	T	0.53	0.02808	N	0.009	0.00081	-0.9969	0.30783	T	0.030	0.12935	T	9	0.0017902851	0.00023	T	.	.	.	0.056	0.15993	0.108	0.01928	.	.	0.07125673055866635	0.07062	0.450877344562	0.44848	0.6814468503	0.64476	T	.	.	.	-0.764804	0.00014	T	-0.841378	0.01078	T	0.0270888147373451	0.01557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11027	B	.	.	-2.208493	0.00063	0.001	0.33647280515608818	0.02015	0.00413	0.02050	N	ALL	0.033471	0.03976	N	-2.04926648805489	0.00165	0.00708564	-2.11192790071391	0.00176	0.007728248	0.999999999156064	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.504199	0.09095	0	0.665054	0.64577	0	.	.	3.71	-6.7	0.01602	-3.024000	0.00704	-6.667000	0.01337	-2.336000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2357:0.3083:0.1224:0.3336	0.659	0.00786	846	0.36215	.	.	.	.	.	.	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	0.04762	456.14	12	chr1	16961117	.	C	G	456.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.128;DP=500;ExcessHet=0.1072;FS=1.177;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.136;SOR=0.990	GT:AD:DP:GQ:PL	0/1:10,8:18:99:196,0,281	19	0	2	0
chr1	19975708	19975708	C	T	exonic	PLA2G2A	.	nonsynonymous SNV	PLA2G2A:NM_001161728:exon5:c.G428A:p.R143H	.	.	420	1097	5	0	0	5	0.00227376	.	.	3191775	PLA2G2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.778	P	0.102	B	0.252	N	1.000	N	1.245	L	2.77	T	-0.972	T	0.013	T	0.205	2.111	13.02	-2.6	-0.292	-1.528	4.749	0.030	0.00703948382991	0.0042	0.00199681	0.0048	0.0011	0.0023	0.0005	0.0015	0.0069	0.0066	0.0036	0.0048382	748	154602	rs34568801	0.0068	0.0069	0.0070	0.0067	0.0080	0.0067	0.0067	0.0079	0.0078	0.0013	0.0029	0.0013	2.519e-05	0.0014	0.0021	0.0080	0.0062	0.0045	0.0043	0.0043	0.0048	0.0037	0.0073	0.0040	0.0039	0.0067	0.0065	0.0015	0.0121	0.0030	0.0012	0	0.0011	0	0.0073	0.0047	0.0029	0.014	0.53172	D	0.135	0.34124	T	0.778	0.44187	P	0.102	0.30857	B	0.251568	0.03650	N	1.784340	1	0.08975	N	2.215	0.62545	M	2.77	0.11407	T	-1.26	0.31778	N	0.104	0.08786	-0.9724	0.36691	T	0.013	0.05129	T	10	0.008064479	0.00183	T	0.007039	0.18649	T	0.030	0.07022	.	.	0.247872288689	0.24386	0.19463051942717013	0.19381	0.730722266612	0.62720	0.217403098941	0.01165	T	0.128146	0.45563	T	-0.627596	0.00099	T	-0.66488	0.07941	T	0.0116120675521292	0.00177	T	0.521048	0.16963	T	0.26416773	0.49483	0.16486873	0.38170	0.27400124	0.50467	0.12765543	0.30724	-6.366	0.49244	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	0.778136	0.11484	8.085	0.91791289719861457	0.21096	0.05516	0.11406	N	AEFDBCI	0.529113	0.55036	D	-0.945954108651652	0.09784	0.4645768	-1.09235456135776	0.07850	0.3835148	0.999799721938068	0.43153	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.2	-2.6	0.05830	-2.448000	0.01085	-12.693000	0.00507	-0.323000	0.05837	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2798:0.2943:0.4259	4.749	0.12427	878	0.29785	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	956.98	34	chr1	19975708	.	C	T	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=776;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-1.116e+00;SOR=0.859	GT:AD:DP:GQ:PL	0/1:30,37:67:99:971,0,669	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	0/1:89,101:190:99:2410,0,2158	19	0	2	0
chr1	22953111	22953111	C	T	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.G1672A:p.D558N,	.	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0063	0	0	0	0.0427	0.0033	0.0625	0	0.0006145	95	154602	rs183423016	0.0044	0.0033	0.0045	0.0044	0.0047	0.0043	0.0043	0.0046	0.0046	0.0006	0.0021	0.0016	0	0.0095	0.0031	0.0047	0.0029	0.0006	0.0033	0.0033	0.0030	0.0036	0.0044	0.0031	0.0030	0.0040	0.0038	0.0008	0	0.0018	0.0003	0	0.0125	0.0034	0.0044	0.0024	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.16	0.60381	M	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.008165479	0.00185	T	.	.	.	.	.	.	.	0.39694197178	0.39312	0.6323432629744559	0.63168	.	.	.	.	.	0.004782	0.04195	T	-0.501457	0.00561	T	-0.49158	0.23225	T	.	.	.	0.936106	0.76057	D	0.11265751	0.26614	0.28331494	0.54324	0.11265751	0.26613	0.28331494	0.54323	-3.972	0.23383	T	.	.	0.673	0.71868	P	.;.	.;.	4.717928	0.75867	26.4	0.86755802676307481	0.16751	0.97941	0.78296	D	AEFDBI	0.605307	0.59607	D	.	.	.	.	.	.	0.999511076539664	0.40117	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.67	3.68	0.41359	5.477000	0.66525	5.489000	0.48743	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.0:0.8232:0.1767:0.0	11.964	0.52315	781	0.47532	.;.	.	.	.	.	.	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	3555.11	37	chr1	22953111	.	C	T	3555.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.028;DP=945;ExcessHet=0.1072;FS=0.966;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.457;SOR=0.788	GT:AD:DP:GQ:PL	0/1:65,75:140:99:1901,0,1564	19	0	2	0
chr1	23751467	23751467	A	G	exonic	ELOA	.	nonsynonymous SNV	ELOA:NM_003198:exon4:c.A940G:p.N314D,	.	.	413	1096	13	0	0	13	0.00589569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	0.069	N	1.000	N	0	N	3.34	T	-0.906	T	0.006	T	0.019	0.407	6.211	0.717	0.086	1.008	8.956	0.042	0.00455877755111	0.0034	0.00219649	0.0032	0.0005	0.0018	0	0.0006	0.0050	0.0034	0.0014	0.0031824	492	154602	rs35797868	0.0034	0.0034	0.0034	0.0034	0.0061	0.0033	0.0033	0.0045	0.0039	0.0005	0.0025	0.0153	2.519e-05	0.0007	0.0061	0.0036	0.0036	0.0015	0.0026	0.0026	0.0027	0.0024	0.0038	0.0024	0.0023	0.0034	0.0033	0.0004	0	0.0024	0.0138	0	0.0008	0.0068	0.0038	0.0028	0.0029	0.292	0.14894	T	0.48	0.14961	T	0.0	0.02946	B	0.0	0.01387	B	0.069205	0.21620	N	0.511947	1	0.08975	N	0	0.06538	N	3.34	0.06063	T	-0.11	0.08653	N	0.089	0.06720	-0.9063	0.47297	T	0.006	0.01981	T	10	0.0031723678	0.00053	T	0.004559	0.11252	T	0.042	0.11227	.	.	0.082315109003	0.07666	0.03013452124847207	0.02962	0.362323139086	0.37892	0.349811136723	0.17894	T	0.038154	0.24739	T	-0.721544	0.00027	T	-0.808684	0.01695	T	0.009974280372262	0.00133	T	0.29657	0.05494	T	0.046090946	0.07654	0.0523956	0.08625	0.046090946	0.07654	0.0523956	0.08624	-3.109	0.11399	T	.	.	0.080	0.15832	B	.;.;.	.;.;.	0.051699	0.04652	1.306	0.95390865642986511	0.26830	0.13423	0.17847	N	ALL	0.119543	0.23327	N	-1.11409369350449	0.06391	0.2940844	-1.07994913376989	0.08096	0.3965636	0.999999841477664	0.74766	0.77792	0.99625	0	0.73237	0.95558	0	0.73237	0.93354	0	0.825845	0.99933	0	.	.	5.64	0.717	0.17352	0.426000	0.21081	0.425000	0.18262	0.756000	0.94297	0.065000	0.21925	0.000000	0.08366	0.010000	0.09038	0.5435:0.0:0.4565:0.0	8.956	0.34978	478	0.77585	.;.;.	.	.	.	.	.	Likely benign	0	0	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	1823.98	33	chr1	23751467	.	A	G	1823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.978e+00;DP=826;ExcessHet=0.0000;FS=2.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-4.490e-01;SOR=0.909	GT:AD:DP:GQ:PL	0/1:59,73:132:99:1838,0,1608	20	0	1	0
chr1	25974613	25974613	C	-	exonic	PAFAH2	.	frameshift deletion	PAFAH2:NM_000437:exon9:c.796delG:p.E266Nfs*28,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	1.5e-05	0	0.0018	0.0002005	31	154602	rs547949556	0.0001	0.0001	5.309e-05	0.0002	0.0019	0.0001	9.7e-05	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0	0	8.993e-07	0.0001	0.0019	6.571e-05	6.567e-05	1.285e-05	0.0001	0.0021	3.517e-05	2.616e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1107.94	34	chr1	25974612	.	TC	T	1107.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.520e-01;DP=757;ExcessHet=0.0000;FS=5.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.59;ReadPosRankSum=-1.536e+00;SOR=0.250	GT:AD:DP:GQ:PL	0/1:28,35:63:99:1122,0,857	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	0|1:12,34,0:46:99:0|1:26282270_C_T:1392,0,402,1428,504,1932:26282270	0	9	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,44,0:62:99:0|1:26282270_C_T:1793,0,623,1848,756,2603:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,44,0:63:99:0|1:26282270_C_T:1790,0,665,1848,798,2645:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:22,0,45:67:99:0|1:26282270_C_T:1790,1856,2695,0,839,702:26282270	1	1	5	4
chr1	26951724	26951724	G	T	exonic	KDF1	.	nonsynonymous SNV	KDF1:NM_152365:exon2:c.C657A:p.F219L,	.	.	426	1087	8	1	0	10	0.00457875	.	.	2107693	not_provided|Ectodermal_dysplasia_12,_hypohidrotic/hair/tooth/nail_type|KDF1-related_disorder	MedGen:C3661900|MONDO:MONDO:0015024,MedGen:C4310616,OMIM:617337|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.91	T	0.27	B	0.147	B	0.000	D	0.991	D	0.145	N	2.11	T	-1.007	T	0.097	T	0.543	0.269	5.456	2.91	0.632	2.904	6.837	0.129	0.00710814544944	7.7e-05	0.000599042	0.0006	0	0.0027	0	0.0015	0.0004	0.0033	0.0002	0.0005239	81	154602	rs141390568	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	2.987e-05	0.0020	0	0	0.0019	0.0045	0.0002	0.0007	0.0002	0.0004	0.0004	0.0003	0.0005	0.0021	0.0003	0.0003	0.0015	0.0013	0	0	0.0021	0.0003	0	0.0011	0.0034	0.0002	0.0009	0.0002	0.817	0.02981	T	1.0	0.01155	T	0.27	0.31762	B	0.147	0.34014	B	0.000130	0.49741	D	0.182306	0.990945	0.41272	D	1.15	0.29295	L	2.11	0.19860	T	-2.2	0.49519	N	0.326	0.36674	-1.0072	0.27789	T	0.097	0.36393	T	10	0.0061787963	0.00139	T	0.007108	0.18841	T	0.210	0.50028	0.156	0.05964	0.12205267543	0.11705	0.31777294114565585	0.31690	1.06235581536	0.76527	.	.	.	0.03671	0.24205	T	-0.439144	0.01308	T	-0.416807	0.31442	T	0.0420856162177448	0.04070	T	0.741726	0.36078	T	0.11176008	0.26407	0.110893056	0.26744	0.08686602	0.20205	0.11440011	0.27614	-2.447	0.05429	T	0.12742676430120856	0.13045	0.960	0.88107	P	.	.	3.604804	0.50935	23.0	0.97352451090183945	0.33529	0.94369	0.60946	D	AEFDBI	0.434710	0.49565	N	-0.214460432926243	0.32539	1.836212	-0.140888317056547	0.33760	1.93462	0.989069017715926	0.31712	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.77	2.91	0.32903	2.965000	0.48892	5.821000	0.50083	-0.133000	0.13014	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.1551:0.1435:0.7014:0.0	6.837	0.23124	590	0.68897	.	.	.	.	.	.	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	1214.98	38	chr1	26951724	.	G	T	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.998e+00;DP=796;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.782;SOR=0.671	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1229,0,1575	20	0	1	0
chr1	27955748	27955748	G	A	exonic	SMPDL3B	.	nonsynonymous SNV	SMPDL3B:NM_001009568:exon6:c.G755A:p.R252Q	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	1.0	D	0.99	D	0.000	D	0.721	D	2.465	M	-2.42	D	0.669	D	0.794	D	0.223	2.636	14.78	3.45	0.248	4.216	14.689	0.426	0.0557122219142	0.0012	0.00179712	0.0024	9.614e-05	0	0.0003	0.0029	0.0024	0.0044	0.0067	0.0021798	337	154602	rs144208397	0.0019	0.0019	0.0017	0.0021	0.0064	0.0018	0.0018	0.0059	0.0057	0.0002	0.0001	0.0126	2.519e-05	0.0036	0.0033	0.0014	0.0020	0.0064	0.0015	0.0015	0.0013	0.0018	0.0064	0.0014	0.0013	0.0047	0.0040	0.0002	0	0.0002	0.0132	0.0008	0.0039	0	0.0014	0.0019	0.0064	0.032	0.44694	D	0.158	0.31629	T	1.0	0.90584	D	0.99	0.78936	D	0.000014	0.62929	D	0.106889	0.720989	0.33617	D	2.605	0.76211	M	-2.42	0.88611	D	-3.0	0.62343	D	0.233	0.31253	0.669	0.92788	D	0.794	0.93004	D	10	0.008205473	0.00186	T	0.055712	0.66336	D	0.426	0.73372	.	.	0.977243864315	0.97699	0.7132078790257588	0.71263	0.336874840187	0.35684	0.217526227236	0.01172	T	0.359239	0.72567	T	-0.309199	0.07818	T	-0.213891	0.53323	T	0.0824133426847049	0.10294	T	0.772623	0.40374	T	0.19201049	0.40852	0.16235138	0.37716	0.19201049	0.40852	0.16235138	0.37715	-6.834	0.53639	T	.	.	0.127	0.26917	B	.;.;.	.;.;.	3.086337	0.41541	21.4	0.99600632141617196	0.74160	0.90098	0.51013	D	AEFDBI	0.457220	0.50875	N	-0.149063258425961	0.35274	2.024037	-0.240162934899754	0.30111	1.692654	0.982420893175803	0.30397	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.34	3.45	0.38602	4.313000	0.58952	5.092000	0.47362	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.1337:0.0:0.8663:0.0	14.689	0.68681	504	0.75712	Calcineurin-like phosphoesterase domain, ApaH type;.;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	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	1768.98	37	chr1	27955748	.	G	A	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=0.556;SOR=0.679	GT:AD:DP:GQ:PL	0/1:66,68:134:99:1783,0,1653	20	0	1	0
chr1	32207927	32207927	G	T	exonic	IQCC	.	stopgain	IQCC:NM_001160042:exon5:c.G1486T:p.G496X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	.	.	.	.	0.071	N	1.000	D	.	.	.	.	.	.	.	.	.	2.724	15.07	1.92	0.506	0.699	3.802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070528	0.21533	N	0.399900	0.999989	0.54805	D	.	.	.	.	.	.	.	.	.	0.347	0.38848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35415	0.86797	D	0.270935	0.86623	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;Low	5.775795	0.93501	33	0.94360861726445799	0.24717	0.06369	0.12370	N	AEFBCI	0.035885	0.04692	N	-0.00616901183682411	0.41575	2.48926	-0.359075217965895	0.26230	1.447414	0.999992578889059	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	3.98	1.92	0.24912	0.701000	0.25293	3.473000	0.38595	0.618000	0.50648	0.014000	0.18986	0.997000	0.33255	0.040000	0.14268	0.5468:0.0:0.4532:0.0	3.802	0.08279	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	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	1242.98	40	chr1	32207927	.	G	T	1242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=837;ExcessHet=0.0000;FS=1.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=1.64;SOR=0.941	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1257,0,1275	20	0	1	0
chr1	33307323	33307323	G	C	exonic	A3GALT2	.	nonsynonymous SNV	A3GALT2:NM_001080438:exon5:c.C466G:p.R156G,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093596269294	0.0011	0.000599042	0.0016	0	0.0003	0	0	0.0016	0.0016	0.0056	0.0007684	20	26028	rs201711967	0.0009	0.0009	0.0007	0.0010	0.0063	0.0008	0.0008	0.0047	0.0041	0.0001	0.0004	0.0256	0	0	0.0063	0.0002	0.0024	0.0034	0.0009	0.0009	0.0008	0.0011	0.0029	0.0008	0.0007	0.0018	0.0014	4.821e-05	0	0.0001	0.0283	0	0	0.0034	0.0002	0.0028	0.0029	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.727	0.72835	.	.	.	.	.	.	.	0.007856667	0.00178	T	0.093596	0.76102	D	.	.	.	.	0.410469974859	0.40663	0.7202289720917042	0.71965	0.61708455629	0.56155	0.807922363281	0.83173	D	0.153025	0.49369	T	-0.157289	0.27179	T	0.000450145	0.70364	D	.	.	.	0.646635	0.25786	T	0.3143262	0.54158	0.28181523	0.54166	0.3143262	0.54158	0.28181523	0.54165	-8.854	0.66752	D	.	.	0.174	0.38172	B	.	.	4.250548	0.64514	24.7	0.68389517952055601	0.08644	0.80960	0.40468	D	AEFDBI	0.240357	0.36215	N	.	.	.	.	.	.	0.999999996042235	0.74766	0.166803	0.03914	0	0.059962	0.00310	0	0.182457	0.04408	0	0.166187	0.04126	0	.	.	3.68	3.68	0.41359	3.022000	0.49342	8.539000	0.77485	0.520000	0.23804	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.7741:0.2259	8.741	0.33719	189	0.92630	.	.	.	.	.	.	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	1152.98	33	chr1	33307323	.	G	C	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=828;ExcessHet=0.0000;FS=2.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-2.730e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1167,0,1460	20	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.985	D	0.002	N	1.000	D	2.775	M	2.53	T	-0.945	T	0.096	T	0.519	3.881	19.73	3.69	0.894	5.415	7.420	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box 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	0.08333	81.64	81	chr1	33864375	.	G	C	81.64	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.805e+00;DP=2391;ExcessHet=0.1072;FS=275.736;InbreedingCoeff=-0.1922;MLEAC=3;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=0.719;SOR=11.733	GT:AD:DP:GQ:PL	0/1:91,41:146:72:72,0,1697	10	0	2	9
chr1	36320499	36320500	GA	-	exonic	SH3D21	.	frameshift deletion	SH3D21:NM_024676:exon11:c.1503_1504del:p.E503Gfs*23	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0003	9.921e-05	0	0	0	0	0	0.0019	0.0002135	33	154602	rs767626565	9.782e-05	9.782e-05	5.309e-05	0.0001	0.0016	8.444e-05	7.921e-05	0.0014	0.0013	0	0	0	0	0	0	1.799e-06	6.623e-05	0.0016	3.943e-05	3.938e-05	2.572e-05	5.375e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	6.541e-05	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2017.94	37	chr1	36320498	.	TGA	T	2017.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.030e-01;DP=879;ExcessHet=0.0000;FS=7.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.02;ReadPosRankSum=-2.740e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/1:56,56:112:99:2032,0,2036	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	1/1:0,17,0:17:51:.:.:540,51,0,540,51,540	0	12	8	0
chr1	41584761	41584761	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.G37A:p.A13T	.	.	428	1093	1	0	0	1	0.000457247	.	.	3202448	HIVEP3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.822	P	0.359	B	0.022	N	0.859	N	0.55	N	3.2	T	-1.038	T	0.008	T	0.117	2.430	14.08	2.52	1.262	0.874	7.494	0.035	.	0.0062	0.00419329	0.0016	0.0164	0.0003	0	0	4.693e-05	0.0025	0	0.0013325	206	154602	rs116266551	0.0004	0.0004	0.0005	0.0003	0.0167	0.0004	0.0004	0.0155	0.0151	0.0167	0.0006	0	2.573e-05	0	0.0013	5.624e-06	0.0010	5.721e-05	0.0043	0.0043	0.0046	0.0039	0.0147	0.0040	0.0039	0.0137	0.0133	0.0147	0	0.0018	0	0	0	0	2.94e-05	0.0043	0	0.015	0.63226	D	0.124	0.35840	T	0.822	0.45767	P	0.359	0.43123	B	0.021969	0.26727	N	0.268098	0.859461	0.28378	N	0.805	0.20218	L	3.19	0.07353	T	-0.2	0.10136	N	0.153	0.15749	-1.0384	0.17802	T	0.008	0.02638	T	10	0.0036333203	0.00066	T	.	.	.	0.035	0.08770	.	.	0.238096912614	0.23440	0.1766380018912037	0.17582	0.221929053935	0.24731	0.45787319541	0.33018	T	0.05603	0.30173	T	-0.621399	0.00108	T	-0.651747	0.08832	T	0.0291592752620616	0.01862	T	0.663034	0.27207	T	0.06557259	0.14026	0.09223937	0.21728	0.06557259	0.14026	0.09223937	0.21728	-3.802	0.20834	T	.	.	0.074	0.05103	B	.;.;.	.;.;.	2.397184	0.30792	18.55	0.99637253572058826	0.76449	0.88090	0.47868	D	AEFDBI	0.236729	0.35913	N	-0.0750237482509981	0.38490	2.255148	-0.000177137125577535	0.39710	2.358534	0.985981726442157	0.30984	0.562547	0.31514	0	0.653731	0.59785	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.55	2.52	0.29514	0.641000	0.24411	1.160000	0.24546	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	1.000000	0.97212	0.2603:0.6552:0.0:0.0845	7.494	0.26650	487	0.76954	.;.;.	.	.	.	.	.	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	1099.98	40	chr1	41584761	.	C	T	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.660e-01;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-2.900e-02;SOR=0.777	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1114,0,1317	20	0	1	0
chr1	44826904	44826904	C	T	exonic	PTCH2	.	nonsynonymous SNV	PTCH2:NM_001166292:exon17:c.G2693A:p.R898H	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, somatic	.	.	.	.	.	.	.	.	0.0002	0.004	516016	Gorlin_syndrome|PTCH2-related_disorder	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.011	B	0.013	B	0.025	N	1.000	D	1.04	L	-3.1	D	-0.258	T	0.564	D	0.289	2.054	12.83	2.23	0.674	2.570	8.761	0.194	0.0652558148137	0.0012	0.000798722	0.0003	0.0029	0.0002	0	0	0	0	6.058e-05	0.0002393	37	154602	rs143534131	7.868e-05	7.867e-05	9.666e-05	6.051e-05	0.0027	6.667e-05	6.202e-05	0.0023	0.0021	0.0027	0.0002	0	0	0	0	4.496e-06	0.0001	3.478e-05	0.0009	0.0009	0.0010	0.0008	0.0033	0.0008	0.0007	0.0028	0.0026	0.0033	0	0.0001	0	0	0	0	2.941e-05	0	0	0.091	0.31987	T	0.104	0.38891	T	0.011	0.15914	B	0.013	0.16460	B	0.025302	0.26110	N	0.264439	0.999692	0.48338	D	1.285	0.32305	L	-3.1	0.92667	D	-2.17	0.49018	N	0.363	0.40465	-0.2576	0.76153	T	0.564	0.84175	D	10	0.01235643	0.00266	T	0.065256	0.69523	D	0.194	0.47447	.	.	0.848878490092	0.84743	0.6723818984379047	0.67176	0.213542894143	0.23869	0.579256474972	0.49980	T	0.611031	0.87673	D	-0.27757	0.10928	T	-0.172007	0.57259	T	0.0178883055406645	0.00516	T	0.810219	0.46129	T	0.060495667	0.12420	0.060773753	0.11629	0.052250538	0.09718	0.06915991	0.14537	-7.126	0.54948	T	.	.	0.070	0.03515	B	.;.	.;.	3.187342	0.43288	21.7	0.9900408939313553	0.50210	0.87767	0.47419	D	ALL	0.533430	0.55288	D	-0.345863493484104	0.27425	1.504522	-0.220094816299133	0.30815	1.738402	0.999999998993696	0.74766	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.677038	0.66255	0	.	.	4.16	2.23	0.27189	2.600000	0.45904	0.773000	0.21413	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.1508:0.7675:0.0:0.0817	8.761	0.33835	476	0.77720	.;.	.	.	.	.	.	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	1752.98	43	chr1	44826904	.	C	T	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.346;DP=927;ExcessHet=0.0000;FS=1.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-1.704e+00;SOR=0.834	GT:AD:DP:GQ:PL	0/1:108,73:181:99:1767,0,2703	20	0	1	0
chr1	45457692	45457692	C	T	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_007170:exon2:c.G94A:p.V32M,	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.119	B	0.063	B	0.641	N	1.000	N	0.345	N	2.46	T	-0.931	T	0.177	T	0.084	0.403	6.187	-7.33	-1.739	-0.638	11.904	0.037	0.0239106135479	0.0025	0.00219649	0.0039	0.0012	0.0031	0	0.0014	0.0047	0.0022	0.0059	0.0037063	573	154602	rs139535559	0.0040	0.0040	0.0040	0.0041	0.0063	0.0040	0.0039	0.0059	0.0057	0.0005	0.0021	0.0069	2.519e-05	0.0013	0.0029	0.0043	0.0036	0.0063	0.0027	0.0027	0.0028	0.0026	0.0072	0.0025	0.0024	0.0054	0.0047	0.0008	0.0011	0.0016	0.0049	0	0.0005	0.0034	0.0042	0.0033	0.0072	0.242	0.18691	T	0.156	0.31833	T	0.007	0.14184	B	0.011	0.15521	B	0.641495	0.05871	N	1.180580	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	-0.14	0.09135	N	0.113	0.12913	-0.9314	0.43933	T	0.177	0.52256	T	10	0.0035657287	0.00064	T	0.023911	0.46889	T	0.037	0.09474	.	.	0.401185642668	0.39728	0.2119062408482869	0.21106	0.199440583256	0.22341	0.291976153851	0.09211	T	0.009183	0.08373	T	-0.545465	0.00310	T	-0.553687	0.16974	T	0.00435145716154146	0.00046	T	0.658334	0.26756	T	0.02780432	0.02024	0.058193475	0.10713	0.02780432	0.02024	0.058193475	0.10712	-4.992	0.36753	T	.	.	0.089	0.12276	B	.;.	.;.	-0.002648	0.04265	1.060	0.90670885882896302	0.19922	0.01462	0.04886	N	AEFI	0.047805	0.08090	N	-1.55302367145856	0.01517	0.06624543	-1.63442238318577	0.01458	0.06597184	0.0181758768570301	0.13029	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.06	-7.33	0.01284	-0.403000	0.07275	-2.453000	0.03735	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.458000	0.28074	0.0:0.606:0.0906:0.3035	11.904	0.51982	153	0.93993	.;.	.	.	.	.	.	Likely benign	0	0	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	3678.11	39	chr1	45457692	.	C	T	3678.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.900e-01;DP=986;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.203;SOR=0.696	GT:AD:DP:GQ:PL	0/1:56,71:127:99:1748,0,1441	19	0	2	0
chr1	46188819	46188819	G	A	exonic	POMGNT1	.	nonsynonymous SNV	POMGNT1:NM_001243766:exon23:c.C2147T:p.A716V,	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, Autosomal recessive;Retinitis pigmentosa 76, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282490	not_provided|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O	MedGen:C3661900|MedGen:CN239202|MONDO:MONDO:0013161,MedGen:C3150417,OMIM:613157,Orphanet:206564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	0.654	N	1.000	N	.	.	1.32	T	-1.016	T	0.029	T	0.098	2.330	13.75	0.939	0.195	0.432	1.818	0.056	.	0.0031	0.00479233	0.0010	0.0113	0.0016	0	0	1.591e-05	0	0	0.0009379	145	154602	rs148903585	0.0004	0.0004	0.0005	0.0003	0.0116	0.0003	0.0003	0.0106	0.0103	0.0116	0.0011	0	0	1.912e-05	0.0003	2.338e-05	0.0009	2.319e-05	0.0034	0.0034	0.0035	0.0034	0.0114	0.0032	0.0031	0.0106	0.0102	0.0114	0	0.0021	0	0	0	0	0.0001	0.0028	0	0.079	0.33753	T	.	.	.	.	.	.	.	.	.	0.654225	0.05941	N	1.250850	1	0.08975	N	.	.	.	1.32	0.35219	T	0.25	0.04456	N	0.1	0.08227	-1.0163	0.24916	T	0.029	0.12497	T	9	0.0029322803	0.00047	T	.	.	.	0.056	0.15993	.	.	0.159798565429	0.15598	0.06121373546112708	0.06061	0.503832317247	0.48685	0.333447396755	0.15454	T	.	.	.	-0.602559	0.00141	T	-0.627923	0.10573	T	0.00885504612654988	0.00110	T	0.205679	0.02432	T	.	.	.	.	.	.	.	.	-3.951	0.23068	T	.	.	0.094	0.14477	B	.	.	0.131557	0.05272	1.769	0.99615665860858893	0.75112	0.09251	0.15045	N	ALL	0.116119	0.22803	N	-0.71341910840986	0.15644	0.7902055	-0.731292514315385	0.16183	0.8548759	0.999502253849179	0.40062	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.62	0.939	0.18631	0.471000	0.21811	-0.672000	0.07929	-0.127000	0.13314	0.005000	0.17040	0.000000	0.08366	0.802000	0.37819	0.153:0.1754:0.4905:0.1811	1.818	0.02917	92	0.96160	.	.	.	.	.	.	Likely benign	0	0	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	1237.98	37	chr1	46188819	.	G	A	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.220e-01;DP=811;ExcessHet=0.0000;FS=2.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.090e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/1:66,52:118:99:1252,0,1674	20	0	1	0
chr1	46219733	46219733	A	G	exonic	LURAP1	.	nonsynonymous SNV	LURAP1:NM_001013615:exon2:c.A233G:p.Q78R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.996	D	0.871	P	0.000	D	1.000	D	0.695	N	.	.	-0.905	T	0.120	T	0.22	2.533	14.43	5.82	2.216	5.980	16.177	0.139	.	0.0049	0.00658946	0.0018	0.0182	0.0018	0	0	3.084e-05	0	0	0.0016171	250	154602	rs140465444	0.0005	0.0005	0.0006	0.0004	0.0162	0.0005	0.0004	0.0150	0.0146	0.0162	0.0015	0	0	1.884e-05	0.0003	2.708e-05	0.0012	2.351e-05	0.0048	0.0048	0.0050	0.0046	0.0160	0.0045	0.0044	0.0150	0.0146	0.0160	0	0.0028	0	0	0	0	0.0002	0.0038	0	0.468	0.08534	T	0.082	0.41573	T	0.996	0.68779	D	0.871	0.61869	P	0.000447	0.44317	D	0.238733	1	0.81001	D	1.15	0.29295	L	.	.	.	-0.84	0.22944	N	0.334	0.37509	-0.9049	0.47458	T	0.120	0.42015	T	9	0.00914973	0.00207	T	.	.	.	0.139	0.37390	.	.	0.542100083394	0.53862	0.3726340020116176	0.37177	0.379959950235	0.39377	0.644112467766	0.59148	T	0.020508	0.16136	T	-0.432141	0.01439	T	-0.379237	0.35812	T	0.0379802283200116	0.03329	T	0.791221	0.43226	T	0.20097661	0.42091	0.17602915	0.40109	0.20097661	0.42091	0.17602915	0.40108	-4.178	0.26432	T	.	.	0.129	0.27583	B	.	.	3.606540	0.50966	23.0	0.98877256026027005	0.47754	0.96036	0.67243	D	AEFDBI	0.770386	0.70535	D	0.457966084086779	0.64657	4.725187	0.530048284710689	0.70023	5.444372	0.999993775429369	0.74766	0.643511	0.44296	0	0.588015	0.36545	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	5.993000	0.70289	11.262000	0.91111	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.177	0.81677	104	0.95701	.	.	.	.	.	.	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	1606.98	33	chr1	46219733	.	A	G	1606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.534;DP=851;ExcessHet=0.0000;FS=0.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.303e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1621,0,1874	20	0	1	0
chr1	46609657	46609657	A	G	exonic	MOB3C	.	stoploss	MOB3C:NM_145279:exon4:c.T649C:p.X217R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	4.791	27.0	5.79	2.207	8.093	14.959	.	.	0.0002	.	1.649e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs149444077	1.847e-05	1.847e-05	2.45e-05	1.238e-05	0.0006	1.265e-05	1.084e-05	0.0004	0.0004	0.0006	2.236e-05	0	0	0	0	0	6.623e-05	1.159e-05	4.6e-05	4.597e-05	6.424e-05	2.69e-05	0.0002	2.109e-05	1.527e-05	7.894e-05	5.589e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0180241	0.49134	T	0.0423098	0.73078	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	2.451444	0.31569	18.78	0.88892487107315221	0.18340	0.99681	0.98618	D	AEFBI	.	.	.	1.15367296284021	0.99010	20.26039	1.01202237881568	0.98846	19.59554	0.999999996366345	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.175069	0.04249	0	0.221052	0.04502	0	0.98122	0.86855	5.79	5.79	0.91751	8.240000	0.89758	11.296000	0.92177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	1.0:0.0:0.0:0.0	14.959	0.70794	165	0.93588	.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1082.98	36	chr1	46609657	.	A	G	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=793;ExcessHet=0.0000;FS=1.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=1.18;SOR=0.515	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1097,0,1450	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,28:28:84:.:.:875,875,875,84,84,0	0	2	0	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	0/1:27,33,0:60:99:1304,0,1027,1386,1127,2512	15	0	5	0
chr1	60040005	60040005	C	T	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon5:c.G659A:p.R220H,	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.001	B	0.574	N	1.000	N	-0.695	N	0.94	T	-0.970	T	0.042	T	0.151	0.623	7.352	-8.79	-2.044	-3.555	17.217	0.047	0.00591110923169	0.0019	0.00139776	0.0026	0.0004	0.0013	0.0002	0.0018	0.0028	0.0011	0.0053	0.0023286	360	154602	rs150454796	0.0021	0.0021	0.0020	0.0022	0.0071	0.0020	0.0020	0.0054	0.0048	0.0009	0.0015	0.0100	0.0001	0.0014	0.0071	0.0018	0.0028	0.0045	0.0018	0.0018	0.0019	0.0018	0.0037	0.0016	0.0016	0.0024	0.0020	0.0003	0	0.0020	0.0075	0.0002	0.0025	0.0068	0.0023	0.0024	0.0037	0.676	0.04482	T	0.322	0.19016	T	0.0	0.02946	B	0.001	0.04355	B	0.574333	0.05498	N	1.228140	1	0.08975	N	-0.515	0.02571	N	0.94	0.43672	T	-0.51	0.15986	N	0.021	0.00339	-0.9697	0.37262	T	0.042	0.18076	T	10	0.005159229	0.00112	T	0.005911	0.15400	T	0.047	0.12962	.	.	0.17948927462	0.17512	0.18253245908563692	0.18172	0.0623679061293	0.06938	.	.	.	0.005315	0.04761	T	-0.656427	0.00066	T	-0.715148	0.05033	T	0.000996837629543356	0.00010	T	0.442656	0.12286	T	0.024146888	0.01219	0.043069344	0.05276	0.024146888	0.01218	0.043069344	0.05276	-7.115	0.54868	T	.	.	0.065	0.01810	B	.	.	-2.662912	0.00021	0.001	0.78058247102254086	0.12138	0.00337	0.01752	N	AEFI	0.028525	0.02529	N	-1.86100754950578	0.00412	0.01772754	-1.88722618413857	0.00519	0.02299955	0.963407202579136	0.28688	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.18	-8.79	0.00709	-3.551000	0.00484	-20.000000	0.00162	-1.748000	0.00692	0.000000	0.06391	0.000000	0.08366	0.560000	0.30412	0.0:0.2006:0.0:0.7994	17.217	0.86829	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	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	1017.98	34	chr1	60040005	.	C	T	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.830e-01;DP=881;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-5.730e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1032,0,1096	20	0	1	0
chr1	60040099	60040099	G	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon5:c.C565G:p.P189A,	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.004	B	0.006	B	0.608	N	1.000	N	1.905	M	1.02	T	-0.970	T	0.087	T	0.125	-0.439	1.960	-0.765	-0.262	1.172	2.030	0.049	0.00719872791336	0.0019	0.00119808	0.0025	0.0004	0.0012	0.0002	0.0018	0.0028	0.0011	0.0050	0.0022639	350	154602	rs11585228	0.0020	0.0020	0.0019	0.0021	0.0071	0.0020	0.0019	0.0054	0.0048	0.0007	0.0015	0.0100	5.038e-05	0.0014	0.0071	0.0018	0.0028	0.0043	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0019	0.0003	0	0.0020	0.0075	0.0002	0.0024	0.0068	0.0023	0.0024	0.0035	0.099	0.30656	T	0.0	0.92824	D	0.004	0.12183	B	0.006	0.12133	B	0.608251	0.10892	N	0.808768	1	0.08975	N	2.175	0.60977	M	1.02	0.40749	T	-3.83	0.72120	D	0.084	0.06059	-0.9696	0.37283	T	0.087	0.33662	T	10	0.009225935	0.00208	T	0.007199	0.19089	T	0.049	0.13647	.	.	0.318252033908	0.31440	0.08055325296208754	0.07990	0.051673236916	0.05686	.	.	.	0.020848	0.16341	T	-0.566595	0.00232	T	-0.586384	0.13980	T	0.00977125481276247	0.00128	T	0.49705	0.15447	T	0.07851274	0.17883	0.08221232	0.18746	0.07851274	0.17882	0.08221232	0.18746	-4.108	0.25408	T	.	.	0.099	0.16538	B	.	.	0.207856	0.05916	2.358	0.58454737945237512	0.05997	0.05983	0.11944	N	AEFI	0.070639	0.14031	N	-0.825917449351535	0.12650	0.6179676	-0.913139151063799	0.11783	0.6024245	5.85137247288541E-4	0.07390	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.03	-0.765	0.10468	1.204000	0.31902	0.437000	0.18385	0.676000	0.76740	0.070000	0.22072	0.001000	0.17328	0.020000	0.11549	0.1797:0.2764:0.402:0.1419	2.030	0.03314	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	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	1107.98	34	chr1	60040099	.	G	C	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.864;DP=869;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=0.183;SOR=0.571	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1122,0,1028	20	0	1	0
chr1	60041001	60041001	T	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon4:c.A473G:p.D158G,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.546	N	1.000	N	0.915	L	2.23	T	-0.953	T	0.025	T	0.027	0.636	7.416	0.441	0.168	-0.493	7.769	0.033	0.00311631352435	0.0020	0.00119808	0.0025	0.0004	0.0012	0.0002	0.0018	0.0028	0.0011	0.0056	0.0022574	349	154602	rs145230176	0.0020	0.0020	0.0019	0.0021	0.0070	0.0020	0.0019	0.0053	0.0047	0.0007	0.0015	0.0101	2.524e-05	0.0014	0.0070	0.0018	0.0026	0.0043	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0019	0.0003	0	0.0020	0.0075	0	0.0025	0.0068	0.0023	0.0024	0.0035	0.704	0.04120	T	0.809	0.03956	T	0.001	0.07471	B	0.002	0.06944	B	0.545901	0.11487	N	0.779066	1	0.08975	N	1.4	0.35362	L	2.23	0.18083	T	-0.88	0.23808	N	0.075	0.04913	-0.9527	0.40503	T	0.025	0.10866	T	10	0.00558576	0.00123	T	0.003116	0.06756	T	0.033	0.08068	.	.	0.139678290688	0.13603	0.1458111418850888	0.14503	0.0654620922164	0.07306	.	.	.	0.002106	0.01509	T	-0.742369	0.00020	T	-0.839009	0.01114	T	0.000320272311906492	0.00003	T	0.432757	0.11777	T	0.048990704	0.08626	0.0663158	0.13568	0.048990704	0.08626	0.0663158	0.13568	-2.906	0.09203	T	.	.	0.075	0.05668	B	.	.	0.055736	0.04680	1.326	0.71697848114821094	0.09717	0.00994	0.03770	N	AEFI	0.031967	0.03522	N	-0.96971236975053	0.09255	0.4372813	-0.929877580288252	0.11391	0.580026	5.61244375151907E-4	0.07335	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	0.441	0.15789	-0.251000	0.08837	-0.680000	0.07891	-0.242000	0.07441	0.002000	0.15269	0.000000	0.08366	0.070000	0.16646	0.0:0.5913:0.0:0.4087	7.769	0.28162	876	0.30350	.	.	.	.	.	.	Likely benign	0	0	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	1571.98	36	chr1	60041001	.	T	C	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-1.224e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1586,0,1851	20	0	1	0
chr1	62274307	62274307	T	C	exonic	KANK4	.	nonsynonymous SNV	KANK4:NM_181712:exon3:c.A797G:p.D266G,	.	.	421	1099	2	0	0	2	0.000909091	.	.	2334503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.533	N	1.000	N	0.55	N	0.98	T	-1.062	T	0.050	T	0.084	0.652	7.497	-4.51	-1.208	0.170	0.994	0.027	0.0049191197081	.	.	9.923e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs200292056	7.114e-05	7.114e-05	5.036e-05	9.213e-05	0.0009	5.98e-05	5.588e-05	0.0003	0.0002	2.987e-05	0	0	0	7.489e-05	0.0009	8.093e-05	3.311e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.258	0.16683	T	0.302	0.20228	T	0.0	0.02946	B	0.0	0.01387	B	0.532929	0.05268	N	1.357540	1	0.18198	N	1.61	0.41143	L	0.98	0.42122	T	-1.22	0.30964	N	0.098	0.07949	-1.0622	0.11215	T	0.050	0.21300	T	10	0.047207475	0.04010	T	0.004919	0.12380	T	0.027	0.05988	.	.	0.101711395817	0.09552	0.41782377554227373	0.41698	0.282967042938	0.30750	0.312653839588	0.12307	T	0.001831	0.01251	T	-0.521186	0.00433	T	-0.701711	0.05733	T	0.0202599699754805	0.00726	T	0.450355	0.12714	T	0.04119719	0.06024	0.046697695	0.06566	0.04119719	0.06023	0.046697695	0.06566	-3.229	0.12838	T	.	.	0.072	0.04277	B	.	.	-0.069179	0.03828	0.819	0.79788533055665001	0.12901	0.15758	0.19067	N	AEFDBI	0.185841	0.31316	N	-1.50977691739615	0.01785	0.07820878	-1.57847489159848	0.01787	0.08134875	0.00823792419919917	0.11637	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.29	-4.51	0.03237	-0.010000	0.12681	-0.864000	0.07130	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1396:0.2493:0.2708:0.3403	0.994	0.01371	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2150.98	55	chr1	62274307	.	T	C	2150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.83;DP=1734;ExcessHet=0.0000;FS=6.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-2.620e-01;SOR=1.032	GT:AD:DP:GQ:PL	0/1:79,77:156:99:2165,0,2003	20	0	1	0
chr1	65392671	65392671	C	T	exonic	DNAJC6	.	nonsynonymous SNV	DNAJC6:NM_001256864:exon12:c.C1709T:p.P570L	Parkinson disease 19a, juvenile-onset, Autosomal recessive;Parkinson disease 19b, early-onset, Autosomal recessive	.	414	1107	1	0	0	1	0.000451467	.	.	1474609	Juvenile_onset_Parkinson_disease_19A	MONDO:MONDO:0014231,MedGen:C3809811,OMIM:615528,Orphanet:391411	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.342	B	0.065	B	0.455	N	1.000	D	0.55	N	-3.29	D	-0.235	T	0.528	D	0.11	2.329	13.74	5.65	2.941	3.165	19.914	0.274	0.0808999968828	.	.	5.84e-05	0	8.688e-05	0	0	9.069e-05	0	0	4.53e-05	7	154602	rs751850074	3.492e-05	3.489e-05	3.406e-05	3.579e-05	0.0003	2.699e-05	2.44e-05	6.099e-05	2.524e-05	0	6.734e-05	0	7.562e-05	0	0.0003	3.239e-05	4.973e-05	4.652e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.022	0.48642	D	0.082	0.51421	T	0.342	0.33490	B	0.037	0.27321	B	0.455317	0.12457	N	0.777423	0.999945	0.54805	D	0.77	0.19370	N	-3.29	0.93787	D	-3.39	0.67589	D	0.222	0.27554	-0.2354	0.76746	T	0.528	0.82448	D	9	0.13149384	0.25026	T	0.081	0.73563	D	0.274	0.59007	.	.	0.158540857583	0.15491	0.1770458586189035	0.17623	0.315404516376	0.33817	0.313168287277	0.12386	T	0.464467	0.80000	T	-0.147112	0.28766	T	-0.256757	0.49146	T	0.153232617096544	0.17359	T	0.927007	0.74183	D	0.10532115	0.24901	0.1183395	0.28567	0.10912958	0.25800	0.10604505	0.25503	-4.663	0.35282	T	.	.	0.075	0.05317	B	.;.;.	.;.;.	3.089385	0.41587	21.4	0.95221188964551418	0.26440	0.72451	0.35461	D	AEFBI	0.389762	0.46885	N	-0.391088428889856	0.25785	1.402357	-0.305345771692193	0.27926	1.553125	0.999999999981278	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.65	5.65	0.86881	3.208000	0.50816	3.239000	0.36954	0.599000	0.40250	0.068000	0.22015	0.284000	0.24125	0.061000	0.16044	0.0:1.0:0.0:0.0	19.914	0.97044	786	0.46839	.;.;.	.	.	.	.	.	Uncertain significance	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	2130.98	40	chr1	65392671	.	C	T	2130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.718;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.921;SOR=0.701	GT:AD:DP:GQ:PL	0/1:65,80:145:99:2145,0,1589	20	0	1	0
chr1	74199718	74199718	A	T	exonic	FPGT;FPGT-TNNI3K	.	nonsynonymous SNV	FPGT-TNNI3K:NM_001112808:exon2:c.A137T:p.D46V	.	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.25	T	0.274	D	0.593	D	0.879	4.275	22.3	4.9	1.959	8.030	13.826	0.801	0.124791761772	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs200157650	0.0001	0.0001	5.99e-05	0.0001	0.0016	8.915e-05	8.4e-05	0.0014	0.0013	0	0	0	0	0	0.0005	3.597e-06	6.623e-05	0.0016	3.282e-05	3.281e-05	2.569e-05	4.027e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000004	0.62929	D	0.000000	1	0.81001	D	3.015	0.86134	M	0.75	0.80214	T	-8.21	0.96839	D	0.906	0.94077	0.274	0.87137	D	0.593	0.85443	D	10	0.38090742	0.54186	T	0.124792	0.80621	D	0.801	0.93504	0.735	0.86806	0.89821584579	0.89720	0.6816163961021032	0.68100	0.203387455224	0.22757	.	.	.	.	.	.	0.102659	0.64579	D	0.355671	0.90539	D	0.485459995347913	0.32097	T	0.928207	0.76932	D	0.3590659	0.57765	0.29257205	0.55284	0.3590659	0.57765	0.29257205	0.55283	-13.283	0.90494	D	.	.	0.866	0.82527	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.074680	0.84663	28.4	0.99382895399208226	0.61979	0.97990	0.78686	D	AEFDGBHCI	0.911593	0.87107	D	0.715243872711393	0.80630	7.337372	0.684256604315644	0.81182	7.467602	0.999999999999998	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	4.9	4.9	0.63643	7.978000	0.87686	11.175000	0.88104	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.826	0.62844	940	0.13648	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	2870.11	35	chr1	74199718	.	A	T	2870.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.797;DP=891;ExcessHet=0.1072;FS=2.983;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-4.630e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1366,0,1455	19	0	2	0
chr1	74571758	74571758	C	T	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon14:c.G3952A:p.G1318R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.023	B	0.002	B	.	.	1.000	N	0	N	1.83	T	-0.932	T	0.007	T	0.054	-0.033	3.844	-3.16	-0.449	-2.005	3.393	0.007	0.000686013650127	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401686560	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	1.314e-05	1.313e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.764	0.03441	T	0.588	0.08273	T	0.023	0.18885	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	1.83	0.24841	T	-1.11	0.28703	N	0.075	0.04913	-0.9323	0.43799	T	0.007	0.02478	T	9	0.04447055	0.03407	T	6.86E-4	0.00400	T	0.007	0.00512	0.192	0.10304	0.0551355673512	0.04727	0.0215250082123564	0.02105	0.0183167722778	0.01791	.	.	.	0.008606	0.07893	T	-0.392488	0.02592	T	-0.801558	0.01863	T	0.016540956526073	0.00417	T	0.510149	0.16261	T	0.043978594	0.06951	0.060442775	0.11511	0.043978594	0.06950	0.060442775	0.11510	-3.827	0.21208	T	.	.	0.077	0.06387	B	.	.	-0.724672	0.01264	0.066	0.55718582970030628	0.05401	0.01693	0.05392	N	AEFBCI	0.044569	0.07187	N	-1.61473113257578	0.01193	0.05184746	-1.69743587217927	0.01149	0.05166973	0.0431047847123111	0.14555	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-2.295000	0.01224	-2.279000	0.03958	-1.358000	0.01184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2397:0.2235:0.5369	3.393	0.06872	713	0.56348	.	.	.	.	.	.	Uncertain significance	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	8242.11	99	chr1	74571758	.	C	T	8242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.45;DP=2231;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=1.88;SOR=0.658	GT:AD:DP:GQ:PL	0/1:124,157:281:99:4094,0,2746	19	0	2	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.089	N	0.999	N	-0.345	N	3.28	T	-0.932	T	0.002	T	0.048	2.206	13.34	2.91	0.308	0.889	1.797	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	606.1	33	chr1	85158755	.	A	G	606.1	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.537e+00;DP=1578;ExcessHet=3.5521;FS=65.892;InbreedingCoeff=-0.2459;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=-3.190e-01;SOR=9.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,16:99:76:.:.:76,0,2294	13	0	8	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,16:94:99:.:.:114,0,2142	1	0	17	3
chr1	86438966	86438966	G	T	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon7:c.G1063T:p.D355Y,	.	.	423	1086	12	0	1	13	0.00549451	.	.	2808988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.707	P	0.297	B	0.241	N	1.000	N	1.89	L	-0.39	T	-0.965	T	0.098	T	0.405	1.724	11.72	-2.97	-0.807	0.152	3.290	0.140	0.0365563410494	0.0041	0.00219649	0.0039	0.0007	0.0011	0	0.0015	0.0052	0.0077	0.0053	0.003758	581	154602	rs55906076	0.0040	0.0040	0.0038	0.0042	0.0067	0.0039	0.0039	0.0063	0.0061	0.0004	0.0017	0.0077	0	0.0016	0.0019	0.0042	0.0039	0.0067	0.0028	0.0028	0.0030	0.0026	0.0048	0.0026	0.0025	0.0037	0.0036	0.0010	0	0.0027	0.0081	0.0006	0.0009	0	0.0041	0.0024	0.0048	0.002	0.72154	D	0.007	0.69154	D	0.707	0.42016	P	0.297	0.40924	B	0.241412	0.15703	N	0.659654	1	0.08975	N	2.38	0.68558	M	-0.39	0.69158	T	-4.51	0.78222	D	0.422	0.46180	-0.9648	0.38250	T	0.098	0.36728	T	10	0.018166423	0.00393	T	0.036556	0.57066	D	0.140	0.37593	.	.	0.369682402691	0.36581	0.46699625617902873	0.46618	0.21499238779	0.24033	0.291769534349	0.09180	T	0.321656	0.69273	T	-0.370775	0.03555	T	-0.302757	0.44433	T	0.0506806068041719	0.05619	T	0.687031	0.29593	T	0.10298611	0.24339	0.15780772	0.36881	0.10298611	0.24339	0.15780772	0.36880	-9.152	0.68670	D	.	.	0.189	0.40698	B	.	.	1.084817	0.14682	11.23	0.97248128504294673	0.33029	0.04210	0.09722	N	AEFBI	0.078339	0.15804	N	-0.81498642951122	0.12927	0.6333836	-0.989298611799586	0.10024	0.5023379	0.0124267958443077	0.12326	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.92	-2.97	0.05195	0.101000	0.15088	-0.126000	0.11669	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3835:0.1146:0.3902:0.1117	3.290	0.06538	732	0.54084	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2256.98	40	chr1	86438966	.	G	T	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.377;DP=881;ExcessHet=0.0000;FS=3.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=-1.355e+00;SOR=0.476	GT:AD:DP:GQ:PL	0/1:55,86:141:99:2271,0,1260	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	1/1:0,299,0,0:299:99:.:.:12551,900,0,12551,900,12551,12551,900,12551,12551	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,299,0,0:299:99:.:.:12551,900,0,12551,900,12551,12551,900,12551,12551	0	12	6	0
chr1	92182202	92182202	G	A	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon6:c.G2980A:p.V994I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.623	N	1.000	N	0.69	N	3.53	T	-0.936	T	0.003	T	0.047	-2.290	0.004	-3.19	-0.383	-1.309	7.111	0.019	0.00461175201833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	.	.	.	.	.	.	.	.	.	0.623468	0.05769	N	1.218160	1	0.08975	N	.	.	.	3.48	0.05130	T	-0.45	0.14782	N	.	.	-0.9365	0.43164	T	0.003	0.00929	T	10	0.05252865	0.05301	T	0.004612	0.11409	T	0.019	0.03383	0.15	0.05339	0.0297737177859	0.01360	0.027946565521907194	0.02744	.	.	0.228188961744	0.01836	T	0.005676	0.05129	T	-0.410072	0.01985	T	-0.826816	0.01320	T	0.023674057499185	0.01104	T	0.450155	0.12692	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.06024	B	.;.;.;.	.;.;.;.	-0.235908	0.02913	0.422	0.17073573024879743	0.00483	0.02415	0.06829	N	AEFDBI	0.036742	0.04945	N	-1.30544302636868	0.03612	0.1616704	-1.33037597606743	0.04043	0.1898659	0.470889726976486	0.20706	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.66	-3.19	0.04853	-1.273000	0.02931	-0.183000	0.11113	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.4957:0.0:0.3642:0.1401	7.111	0.24566	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	1	0	0	0	0.02381	1907.98	41	chr1	92182202	.	G	A	1907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.149e+00;DP=1036;ExcessHet=0.0000;FS=1.233;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-3.310e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:82,76:158:99:1922,0,2295	20	0	1	0
chr1	92695323	92695323	A	G	exonic	EVI5	.	nonsynonymous SNV	EVI5:NM_001308248:exon7:c.T1028C:p.I343T	.	.	425	1074	23	0	0	23	0.0105942	.	.	696914	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.866	P	0.689	P	0.000	D	1.000	D	2.82	M	2.71	T	-1.076	T	0.067	T	0.942	3.324	17.18	5.94	2.269	7.238	16.391	0.491	0.0165308879045	0.0010	0.00119808	0.0016	0.0003	0.0029	0	0	0.0021	0.0023	0.0012	0.0015265	236	154602	rs143611208	0.0011	0.0011	0.0010	0.0012	0.0130	0.0010	0.0010	0.0107	0.0098	0.0003	0.0021	0.0181	0	1.876e-05	0.0130	0.0006	0.0029	0.0013	0.0012	0.0012	0.0011	0.0013	0.0025	0.0011	0.0010	0.0019	0.0016	0.0002	0.0022	0.0025	0.0164	0	0	0.0204	0.0009	0.0033	0.0010	0.003	0.68238	D	0.007	0.69154	D	0.866	0.47610	P	0.689	0.53736	P	0.000001	0.84330	D	0.094505	0.999991	0.58761	D	2.39	0.68882	M	2.71	0.12055	T	-3.53	0.68532	D	0.935	0.95725	-1.0756	0.08225	T	0.067	0.27399	T	10	0.016174048	0.00340	T	0.016531	0.37830	T	0.491	0.77783	.	.	0.619591805948	0.61650	0.5793876450630442	0.57867	0.210088818001	0.23489	0.822443246841	0.85403	D	0.101919	0.40914	T	-0.110442	0.34697	T	0.0627242	0.74426	D	0.0530220033406566	0.06023	T	0.989121	0.96387	D	0.53860325	0.69318	0.6220798	0.77981	0.53860325	0.69319	0.6220798	0.77982	-10.893	0.79068	D	.	.	0.514	0.65221	A	.;.	.;.	4.005771	0.59058	24.1	0.99510102654907284	0.68558	0.97716	0.76619	D	AEFDBI	0.843182	0.76023	D	0.715053679385524	0.80619	7.33458	0.727966450223139	0.84502	8.309783	0.993715836966175	0.33326	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	7.227000	0.77548	9.280000	0.79706	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.391	0.83373	352	0.85375	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	782.98	34	chr1	92695323	.	A	G	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.607;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.643;SOR=0.782	GT:AD:DP:GQ:PL	0/1:46,34:80:99:797,0,1150	20	0	1	0
chr1	99687111	99687111	C	G	exonic	PALMD	.	nonsynonymous SNV	PALMD:NM_017734:exon6:c.C436G:p.L146V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.998	D	0.002	N	1.000	D	1.575	L	2.2	T	-1.116	T	0.096	T	0.522	3.396	17.46	5.63	2.826	3.453	20.057	0.192	0.0102228937015	.	0.000798722	0.0003	0	0	0	0	0	0	0.0020	0.0002329	36	154602	rs553485814	0.0001	0.0001	4.116e-05	0.0002	0.0018	9.176e-05	8.703e-05	0.0015	0.0015	0	0	0	0	0	0	1.811e-06	0	0.0018	7.233e-05	7.221e-05	2.572e-05	0.0001	0.0023	3.974e-05	3.129e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.056	0.38185	T	0.327	0.23365	T	1.0	0.90584	D	0.998	0.88582	D	0.001966	0.37549	N	0.232423	0.99961	0.47849	D	1.74	0.45129	L	2.2	0.18570	T	-0.8	0.22078	N	0.332	0.39052	-1.1156	0.02630	T	0.096	0.36133	T	10	0.015696704	0.00329	T	0.010223	0.26500	T	0.192	0.47115	0.325	0.30711	0.490701487448	0.48705	0.4196812677548226	0.41884	0.241882265357	0.26705	0.53315538168	0.43479	T	0.012863	0.11231	T	-0.405687	0.02124	T	-0.374532	0.36360	T	0.148247188534077	0.16963	T	0.824718	0.65471	T	0.103059284	0.24356	0.12170516	0.29363	0.103059284	0.24356	0.12170516	0.29362	-3.585	0.20208	T	.	.	0.346	0.62752	A	.;.;.	.;.;.	4.420658	0.68469	25.2	0.99818259853161451	0.90150	0.94917	0.62779	D	AEFBI	0.584867	0.58351	D	0.681909761560086	0.78448	6.873513	0.688884237540833	0.81533	7.54938	0.999999898505875	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	3.463000	0.52814	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.057	0.97657	839	0.37672	.;.;.	.	.	.	.	.	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	1271.98	33	chr1	99687111	.	C	G	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.373e+00;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-4.600e-02;SOR=0.709	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1286,0,1277	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	0/1:114,26:140:99:.:.:148,0,3953	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,38:141:99:.:.:304,0,2048	6	0	15	0
chr1	103660401	103660401	C	T	exonic	AMY1A;AMY1B;AMY1C	.	nonsynonymous SNV	AMY1B:NM_001008218:exon7:c.C920T:p.A307V	.	.	542	971	8	1	0	10	0.00512295	.	.	731511	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	.	.	-4.94	D	1.063	D	0.944	D	0.683	2.641	14.79	2.38	1.150	5.481	9.722	0.800	0.25198195432	0.0025	.	0.0034	0.0014	0.0004	0.0002	0.0010	0.0052	0	0.0032	0.0019728	305	154602	rs201288184	0.0051	0.0053	0.0051	0.0052	0.0063	0.0050	0.0050	0.0061	0.0061	0.0010	0.0003	0.0023	0.0002	0.0007	0.0030	0.0063	0.0030	0.0026	0.0025	0.0032	0.0029	0.0021	0.0045	0.0023	0.0022	0.0040	0.0038	0.0009	0	0.0006	0.0008	0.0007	0.0003	0.0043	0.0045	0.0007	0.0010	0.078	0.33923	T	0.065	0.44702	T	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-4.94	0.98409	D	-3.27	0.65512	D	0.957	0.96644	1.063	0.98415	D	0.944	0.98180	D	9	0.17515287	0.32432	T	0.251982	0.89154	D	0.800	0.93464	.	.	0.901288979657	0.90030	0.4925179490974643	0.49172	2.11663288113	0.94974	0.757205843925	0.75513	T	0.750042	0.93143	D	-0.0215052	0.48640	T	0.190475	0.82597	D	0.0470011079048231	0.04966	T	.	.	.	0.24944791	0.47939	0.28741214	0.54753	0.24944791	0.47939	0.28741214	0.54752	.	.	.	.	.	.	.	.	.	.	5.320751	0.89306	29.9	0.99875708384203743	0.95244	0.81973	0.41275	D	AEFI	0.535910	0.55434	D	0.273343274480971	0.54802	3.644926	0.148188373407487	0.47047	2.940827	5.96561896204232E-4	0.07414	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.38	2.38	0.28415	5.666000	0.67729	1.519000	0.27078	0.286000	0.18717	1.000000	0.71638	0.863000	0.27509	0.959000	0.51448	0.0:0.7858:0.2142:0.0	9.722	0.39474	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic 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	0.025	1515.33	33	chr1	103660401	.	C	T	1515.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.270e-01;DP=795;ExcessHet=0.0000;FS=1.386;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=35.85;MQRankSum=0.504;QD=10.52;ReadPosRankSum=0.825;SOR=0.853	GT:AD:DP:GQ:PL	0/1:77,67:144:99:1529,0,1797	19	0	1	1
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	1/1:0,55,0:55:99:2456,166,0,2456,166,2456	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	1/1:0,55,0:55:99:2456,166,0,2456,166,2456	1	11	8	0
chr1	111477698	111477698	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G163A:p.V55I	.	.	420	1082	19	1	0	21	0.00961098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.046	B	0.011	B	0.095	N	1.000	N	0.55	N	0.75	T	-1.073	T	0.027	T	0.047	1.451	10.79	-2.52	-0.473	0.254	4.289	0.009	0.00409375774602	0.0005	0.00159744	0.0016	0.0002	0.0009	0	0	0.0006	0.0022	0.0090	0.0013907	215	154602	rs140103670	0.0010	0.0010	0.0007	0.0012	0.0082	0.0009	0.0009	0.0077	0.0075	0.0001	0.0006	0.0010	0	0	0.0045	0.0005	0.0011	0.0082	0.0006	0.0006	0.0006	0.0006	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0012	0	0	0	0.0006	0.0005	0.0069	0.229	0.18371	T	0.427	0.13832	T	0.046	0.21875	B	0.011	0.15521	B	0.095398	0.02496	N	2.152440	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-0.17	0.09627	N	0.099	0.08088	-1.0725	0.08873	T	0.027	0.11485	T	10	0.0035338998	0.00063	T	0.004094	0.09775	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.0694724589363589	0.06885	0.417457423283	0.42365	.	.	.	0.002328	0.01720	T	-0.659428	0.00063	T	-0.714026	0.05090	T	0.00108029322057687	0.00010	T	0.322168	0.06550	T	0.035075165	0.04059	0.033002805	0.02125	0.035075165	0.04059	0.033002805	0.02125	-3.601	0.17871	T	.	.	0.112	0.21987	B	.	.	0.585064	0.09533	6.312	0.92389584783126355	0.21800	0.01920	0.05866	N	AEFDBI	0.032020	0.03537	N	-1.30145367959959	0.03659	0.1638355	-1.36204659220269	0.03666	0.1714712	0.999820827371025	0.43622	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.1	-2.52	0.05978	0.261000	0.18211	1.116000	0.24201	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5629:0.0:0.2656:0.1714	4.289	0.10313	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1578.98	38	chr1	111477698	.	G	A	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.181e+00;DP=919;ExcessHet=0.0000;FS=2.301;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-5.050e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1593,0,2067	20	0	1	0
chr1	112667144	112667144	C	T	exonic	CAPZA1	.	nonsynonymous SNV	CAPZA1:NM_006135:exon8:c.C656T:p.S219L,	.	.	498	1022	2	0	0	2	0.000977517	0.7209	0.532	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.055	B	0.035	B	0.000	D	0.999	D	2.34	M	.	.	-0.685	T	0.210	T	0.318	2.637	14.78	4.66	2.293	4.489	17.488	0.352	.	.	0.00519169	0.0026	0	0.0003	0.0001	0	3.002e-05	0.0011	0.0190	0.0022898	354	154602	rs555597264	0.0012	0.0012	0.0007	0.0016	0.0183	0.0011	0.0011	0.0175	0.0172	6.024e-05	2.281e-05	0	2.533e-05	0	0.0005	2.634e-05	0.0011	0.0183	0.0008	0.0008	0.0004	0.0011	0.0228	0.0007	0.0006	0.0193	0.0180	4.811e-05	0	0	0	0.0002	0	0	5.88e-05	0	0.0228	0.03	0.45393	D	0.19	0.28482	T	0.055	0.22733	B	0.035	0.22741	B	0.000002	0.62929	D	0.061532	0.998643	0.45212	D	2.675	0.78361	M	.	.	.	-3.52	0.68412	D	0.483	0.51761	-0.6849	0.61146	T	0.210	0.57014	T	9	0.0074812174	0.00170	T	.	.	.	0.352	0.67326	0.579	0.70476	0.345212716602	0.34136	0.3145990619777249	0.31372	0.244053856826	0.26914	0.529411792755	0.42951	T	0.167073	0.51356	T	-0.343425	0.05154	T	-0.251803	0.49639	T	0.123800554390446	0.14798	T	0.893011	0.63001	D	0.36710855	0.58370	0.24124739	0.49517	0.36710855	0.58371	0.24124739	0.49516	-3.726	0.19703	T	.	.	0.091	0.13268	B	.	.	4.983680	0.82574	27.8	0.99652011843380861	0.77380	0.96299	0.68462	D	AEFDGBHI	0.595305	0.58991	D	0.037939382134615	0.43589	2.648835	0.127452901128531	0.45960	2.849907	0.872273674984979	0.25442	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	4.649000	0.61129	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:1.0:0.0:0.0	17.488	0.87588	896	0.25515	.	.	.	.	.	.	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	1450.98	43	chr1	112667144	.	C	T	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-01;DP=843;ExcessHet=0.0000;FS=3.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-5.700e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1465,0,1692	20	0	1	0
chr1	114686902	114686902	C	T	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon3:c.G311A:p.R104H	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	.	1	1450	69	2	0	73	0.0245543	.	.	177319	not_specified|AMPD1-related_disorder|not_provided|Muscle_AMP_deaminase_deficiency	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.12	T	0.99	D	0.583	P	0.002	U	0.988	D	1.95	M	0.97	T	-0.999	T	0.109	T	0.294	2.598	14.65	4.5	1.286	2.198	12.292	0.093	.	0.0029	0.00479233	0.0051	0.0016	0.0036	0.0003	0.0005	0.0051	0.0132	0.0121	0.00478	739	154602	rs61738827	0.0038	0.0038	0.0034	0.0042	0.0165	0.0037	0.0037	0.0138	0.0128	0.0010	0.0032	0.0231	0.0001	0.0005	0.0165	0.0030	0.0054	0.0121	0.0036	0.0036	0.0034	0.0037	0.0145	0.0033	0.0032	0.0118	0.0108	0.0010	0.0011	0.0043	0.0239	0	0.0002	0.0136	0.0038	0.0095	0.0145	0.028	0.47320	D	0.109	0.37872	T	.	.	.	.	.	.	0.002416	0.00885	U	11.368800	0.987684	0.40632	D	2.045	0.56016	M	0.97	0.42502	T	-0.15	0.09796	N	0.289	0.32921	-0.9990	0.30199	T	0.109	0.39509	T	10	0.0043738484	0.00089	T	.	.	.	0.093	0.26882	.	.	0.71889551114	0.71642	0.3105258791752021	0.30965	0.105181179434	0.11892	0.356991648674	0.18946	T	0.368652	0.73350	T	-0.485421	0.00689	T	-0.459019	0.26707	T	0.0192262107775266	0.00628	T	0.70223	0.31206	T	0.08808499	0.20535	0.06575114	0.13373	0.099119626	0.23387	0.07012084	0.14860	-4.017	0.24072	T	.	.	0.099	0.21428	B	.;.	.;.	2.835667	0.37399	20.5	0.99748629097363373	0.84077	0.92457	0.55756	D	AEFBI	0.120830	0.23519	N	0.219453574693732	0.52143	3.390361	0.254924878545914	0.52931	3.464669	0.0102450568174137	0.11992	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	4.5	0.54382	2.272000	0.43032	1.774000	0.28659	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.997000	0.79791	0.0:0.9199:0.0:0.0801	12.292	0.54142	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	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	2251.11	35	chr1	114686902	.	C	T	2251.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.23;DP=879;ExcessHet=0.1072;FS=4.200;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.572;SOR=0.986	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1141,0,1332	19	0	2	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:131,53:203:99:202,0,2120	0	0	21	0
chr1	119727080	119727080	G	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon5:c.G488A:p.R163Q,	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	143179	not_provided|PHGDH_deficiency|Neu-Laxova_syndrome_1	MedGen:C3661900|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.615	H	-1.53	D	0.730	D	0.766	D	0.882	6.034	37	5.83	2.769	9.728	18.682	0.968	0.522875780875	.	.	8.248e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs587777483	4.82e-06	7.526e-06	4.115e-06	5.531e-06	2.522e-05	2e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.522e-05	0	0	3.626e-06	1.664e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.53	0.81559	D	-3.95	0.73477	D	0.908	0.90932	0.730	0.93547	D	0.766	0.92040	D	10	0.9194493	0.91301	D	0.522876	0.95473	D	0.968	0.99597	0.703	0.83962	0.963768508205	0.96337	0.8678554530528497	0.86750	0.944994080329	0.72380	0.577394008636	0.49719	T	0.922284	0.98619	D	0.353777	0.86771	D	0.367254	0.90971	D	0.991514325141907	0.81819	D	0.938806	0.77799	D	0.9711548	0.98367	0.93692476	0.97564	0.97759515	0.98921	0.95218337	0.98530	-13.08	0.89690	D	0.8093713931170455	0.88463	0.729	0.74143	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.706169	0.95620	35	0.99961983653131414	0.99998	0.97188	0.73208	D	AEFDBCI	0.940178	0.94179	D	1.09868009541036	0.98110	17.45019	1.03752135420388	0.99230	21.350	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.83	5.83	0.93059	9.853000	0.98388	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.682	0.91510	752	0.51611	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1793.98	45	chr1	119727080	.	G	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=861;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=1.25;SOR=0.832	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1808,0,1401	20	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,30:135:99:.:.:141,0,2240	5	0	16	0
chr1	146067235	146067235	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.G10582A:p.E3528K	.	.	651	848	21	2	0	25	0.0145264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.713	P	0.678	P	.	.	1.000	N	0.55	N	4.03	T	-1.014	T	0.003	T	0.362	-2.093	0.006	.	-2.037	-2.442	.	0.051	.	.	.	0.3095	0.25	0	0	.	0.3557	0.5	0.25	0.0018826	49	26028	rs782346895	0.0009	0.0030	0.0007	0.0010	0.0046	0.0008	0.0008	0.0040	0.0037	0.0016	0.0017	0.0002	0.0046	0.0005	0.0010	0.0004	0.0011	0.0008	0.0005	0.0017	0.0005	0.0005	0.0016	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0006	0	0.0016	0.0002	0	0.0001	0.0007	0.0011	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.25867	.	.	.	.	.	.	.	0.028234512	0.00958	T	.	.	.	.	.	.	.	.	.	0.008707865764252615	0.00834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676832	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.52285	B	.;.	.;.	-0.114190	0.03558	0.685	.	.	.	.	.	.	0.017718	0.00484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.877000	0.04305	0.000000	0.13247	.	.	0.001000	0.13787	0.033000	0.21346	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	552.03	20	chr1	146067235	.	C	T	552.03	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.114e+00;DP=529;ExcessHet=0.6776;FS=6.040;InbreedingCoeff=-0.1073;MLEAC=4;MLEAF=0.095;MQ=43.46;MQRankSum=-3.188e+00;QD=3.94;ReadPosRankSum=-5.070e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/1:19,11:30:99:187,0,460	17	0	4	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	0/1:371,85:456:99:1138,0,10043	1	0	20	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K,	.	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	676.01	33	chr1	149476000	.	C	A	676.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=5.27;DP=1964;ExcessHet=1.7912;FS=25.359;InbreedingCoeff=-0.1663;MLEAC=6;MLEAF=0.143;MQ=33.27;MQRankSum=-4.079e+00;QD=0.61;ReadPosRankSum=-3.831e+00;SOR=4.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,21:250:99:0|1:149475995_C_T:152,0,9365:149475995	15	0	6	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H,	.	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1239.33	33	chr1	149476006	.	G	A	1239.33	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.74;DP=2230;ExcessHet=1.7912;FS=23.772;InbreedingCoeff=-0.1703;MLEAC=6;MLEAF=0.143;MQ=33.76;MQRankSum=-3.934e+00;QD=1.06;ReadPosRankSum=-4.403e+00;SOR=3.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,24:255:99:0|1:149475995_C_T:228,0,9349:149475995	15	0	6	0
chr1	149488143	149488143	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1171A:p.V391I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.001	B	.	.	1.000	N	1.245	L	3.28	T	-0.895	T	0.004	T	0.329	-0.998	0.263	-0.716	-1.078	-2.876	2.155	0.027	.	.	.	0.3462	0	0.5	0.5	.	0.35	.	.	.	.	.	rs1393468817	0.0010	0.0039	0.0010	0.0011	0.0014	0.0010	0.0009	0.0010	0.0010	0.0008	0.0010	0.0002	0.0014	0.0007	0.0009	0.0011	0.0010	0.0009	0.0020	0.0066	0.0021	0.0019	0.0037	0.0018	0.0017	0.0022	0.0019	0.0012	0.0065	0.0016	0.0016	0.0036	0.0016	0.0077	0.0024	0.0023	0.0037	.	.	.	0.05	0.48080	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.019	0.01421	-0.8950	0.48483	T	0.004	0.01226	T	9	0.0032426417	0.00055	T	.	.	.	.	.	0.479	0.55823	.	.	.	.	.	.	0.560923337936	0.47399	T	0.014359	0.12236	T	-0.182804	0.23320	T	-0.500362	0.22311	T	0.00364633540085454	0.00039	T	0.612539	0.26084	T	0.019038748	0.00428	0.04321957	0.05328	0.019038748	0.00428	0.04321957	0.05328	3.172	0.00018	T	.	.	0.103	0.18580	B	.;.	.;.	-0.373209	0.02314	0.246	0.25447681740136968	0.01173	0.00052	0.00397	N	AEFI	0.015628	0.00308	N	-1.77891344047157	0.00598	0.02580192	-1.89437954985071	0.00502	0.02225381	4.1572975472456E-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	-0.716	0.10647	-0.704000	0.05160	-15.477000	0.00355	-1.418000	0.01127	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2694:0.3287:0.4019	2.155	0.03578	.	.	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	.	.	.	.	.	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	0.02381	31.02	20	chr1	149488143	.	G	A	31.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.508;DP=364;ExcessHet=0.0000;FS=3.522;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.024;MQ=35.98;MQRankSum=-4.310e-01;QD=3.45;ReadPosRankSum=0.282;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:45:0|1:149488143_G_A:45,0,270:149488143	20	0	1	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|1:3,6:9:90:1|0:149488143_G_A:216,0,90:149488143	18	0	3	0
chr1	151440966	151440966	G	A	exonic	POGZ	.	nonsynonymous SNV	POGZ:NM_001194937:exon3:c.C245T:p.T82I	White-Sutton syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.062	B	0.015	B	0.017	N	1.000	D	0	N	5.94	T	-0.771	T	0.202	T	0.363	2.807	15.35	5.06	2.612	4.300	15.973	0.036	0.0163096699852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.57480	D	0.145	0.53072	T	0.016	0.23277	B	0.007	0.17295	B	0.017236	0.27776	N	0.292176	0.784788	0.81001	D	0	0.06538	N	5.94	0.83241	T	-0.33	0.45404	N	0.146	0.14763	-0.7715	0.56775	T	0.202	0.55933	T	10	0.1542458	0.29098	T	0.01631	0.37504	T	0.036	0.09122	0.141	0.04462	0.652824027215	0.64993	0.3537238515941887	0.35286	0.786014294161	0.65511	0.607494592667	0.53961	T	0.022101	0.19446	T	0.0536047	0.58806	T	-0.160777	0.58282	T	0.393252100901635	0.28687	T	0.882912	0.63428	D	0.19493566	0.41263	0.11143506	0.26881	0.19493566	0.41263	0.11143506	0.26880	-4.121	0.32209	T	.	.	0.309	0.53709	B	.;.;.;.;.	.;.;.;.;.	2.921819	0.38794	20.8	0.99577040480172796	0.72742	0.89186	0.49500	D	AEFBI	0.506068	0.53695	D	-0.104357561212368	0.37201	2.161071	0.119948053786081	0.45572	2.817854	0.999953294937299	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	4.358000	0.59217	10.007000	0.83074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.973	0.79827	248	0.90287	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1115.98	34	chr1	151440966	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.401e+00;DP=815;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=-1.190e+00;SOR=0.725	GT:AD:DP:GQ:PL	0/1:72,50:122:99:1130,0,1865	20	0	1	0
chr1	152107536	152107536	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G5681C:p.R1894T,	.	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.791	P	0.351	B	.	.	1.000	N	1.67	L	2.24	T	-1.028	T	0.018	T	0.274	0.273	5.475	1.65	0.916	0.055	5.804	0.020	0.00452750398386	8.1e-05	0.000199681	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0.0001488	23	154602	rs146665414	8.209e-05	8.209e-05	7.35e-05	9.075e-05	0.0009	7.002e-05	6.552e-05	0.0003	0.0002	0	0.0001	0.0023	0	0	0.0009	1.799e-05	6.623e-05	0.0003	8.534e-05	8.53e-05	0.0001	6.712e-05	0.0002	4.953e-05	3.959e-05	1.171e-05	6.25e-06	2.405e-05	0	0	0.0020	0	0	0	4.41e-05	0.0005	0.0002	0.033	0.44358	D	0.01	0.65728	D	0.791	0.44643	P	0.351	0.42849	B	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.24	0.17923	T	-1.86	0.43524	N	0.258	0.29197	-1.0277	0.21200	T	0.018	0.07470	T	9	0.009339511	0.00211	T	0.004528	0.11157	T	0.020	0.03691	.	.	0.466991082792	0.46324	0.013653457371060496	0.01323	0.53078089531	0.50606	0.355094134808	0.18670	T	0.001787	0.01205	T	-0.417397	0.01777	T	-0.563038	0.16093	T	0.0453711178041521	0.04670	T	0.416558	0.10945	T	0.08863254	0.20681	0.14344089	0.34089	0.08863254	0.20681	0.14344089	0.34088	-6.358	0.49180	T	.	.	0.352	0.59882	A	.;.	.;.	1.711868	0.21796	15.35	0.83754930894343005	0.14901	0.09195	0.15000	N	AEFDBCI	0.086672	0.17573	N	-0.439772083674315	0.24088	1.298198	-0.570550270228043	0.20262	1.090872	0.999993239064772	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	4.7	1.65	0.23015	-0.060000	0.11669	.	.	-0.233000	0.07663	0.000000	0.06391	0.001000	0.17328	0.010000	0.09038	0.1711:0.6737:0.0:0.1552	5.804	0.17695	480	0.77422	.;.	.	.	.	.	.	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	0.02381	3772.98	166	chr1	152107536	.	C	G	3772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.790e-01;DP=3435;ExcessHet=0.0000;FS=3.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-3.080e-01;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,153:303:99:0|1:152107513_T_G:3787,0,3719:152107513	20	0	1	0
chr1	152155724	152155724	G	A	exonic	RPTN	.	stopgain	RPTN:NM_001122965:exon3:c.C1375T:p.Q459X,	.	.	454	1060	7	1	0	9	0.00422734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.818	19.39	1.05	-0.061	0.583	7.665	.	.	.	0.00139776	0.0013	0	0.0003	0	0	0.0003	0	0.0079	0.0010543	163	154602	rs189546119	0.0007	0.0006	0.0004	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	3.008e-05	0.0003	0	2.544e-05	1.894e-05	0.0028	0.0002	0.0008	0.0077	0.0005	0.0005	0.0004	0.0005	0.0071	0.0004	0.0003	0.0052	0.0046	2.42e-05	0	0.0007	0	0.0002	0	0.0035	0.0003	0.0005	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126774	0.32019	T	0.0495461	0.73553	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.168517	0.86628	29.0	0.94868377652946201	0.25687	0.09377	0.15145	N	AEFGBI	0.027413	0.02233	N	-0.226976483924446	0.32031	1.802123	-0.563101106031878	0.20458	1.102326	6.4132569329821E-5	0.04366	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	1.05	0.19280	0.242000	0.17862	.	.	0.642000	0.52262	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0769:0.0:0.5104:0.4127	7.665	0.27593	637	0.64373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	12912.08	237	chr1	152155724	.	G	A	12912.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.407e+00;DP=3200;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.82;MQRankSum=2.00;QD=23.52;ReadPosRankSum=7.84;SOR=0.725	GT:AD:DP:GQ:PL	1/1:102,447:549:99:12940,912,0	20	1	0	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:302,0,51:353:99:0|1:152214821_T_A:1150,2059,14566,0,12507,12353:152214821	8	0	3	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	998.62	267	chr1	152214830	.	C	CATGTTGGCCACAG,*	998.62	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.04;DP=4604;ExcessHet=11.8493;FS=41.163;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.81;MQRankSum=1.90;QD=0.27;ReadPosRankSum=-5.805e+00;SOR=11.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:302,0,51:353:99:0|1:152214821_T_A:1150,2059,14566,0,12507,12353:152214821	8	0	3	0
chr1	152910296	152910325	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	-	exonic	IVL	.	nonframeshift deletion	IVL:NM_005547:exon2:c.499_528del:p.K174_L183del,	.	.	397	1101	22	0	2	24	0.00989209	.	.	696107	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	.	0.0039	0.0017	0.0030	0	0.0020	0.0053	0.0028	0.0032	0.0009989	26	26028	rs772656711	0.0018	0.0019	0.0016	0.0020	0.0068	0.0017	0.0017	0.0051	0.0045	0.0004	0.0019	0.0031	5.041e-05	0.0020	0.0068	0.0017	0.0029	0.0021	0.0060	0.0068	0.0064	0.0056	0.0091	0.0057	0.0056	0.0085	0.0083	0.0019	0	0.0074	0.0061	0	0.0030	0.0106	0.0091	0.0107	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1129.03	34	chr1	152910295	.	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A,*	1129.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.98;DP=887;ExcessHet=0.1072;FS=2.096;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.49;MQRankSum=-1.796e+00;QD=7.24;ReadPosRankSum=1.02;SOR=0.501	GT:AD:DP:GQ:PL	0/1:52,32,0:84:99:1143,0,2016,1300,2117,3417	19	0	1	0
chr1	152910295	152910325	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	0	exonic	IVL	.	.	.	.	.	397	1101	22	0	2	24	0.00989209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1129.03	34	chr1	152910295	.	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A,*	1129.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.98;DP=887;ExcessHet=0.1072;FS=2.096;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.49;MQRankSum=-1.796e+00;QD=7.24;ReadPosRankSum=1.02;SOR=0.501	GT:AD:DP:GQ:PL	0/1:52,32,0:84:99:1143,0,2016,1300,2117,3417	19	0	1	0
chr1	153070728	153070728	G	A	exonic	SPRR2B	.	nonsynonymous SNV	SPRR2B:NM_001017418:exon2:c.C112T:p.P38S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.003	N	0.997	N	.	.	1.47	T	-1.049	T	0.111	T	0.372	2.233	13.43	3.73	1.766	1.250	11.362	0.087	0.00516385530096	.	.	0.0001	0	0	0	0	0.0002	0	7.747e-05	3.84e-05	1	26028	rs550805368	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	8.984e-05	2.239e-05	0.0004	0	1.875e-05	0	0.0001	0.0001	9.309e-05	0.0001	0.0001	0.0001	6.766e-05	0.0002	6.55e-05	5.354e-05	0.0001	9.942e-05	2.422e-05	0	0	0.0003	0	0	0	0.0002	0	0	.	.	.	0.026	0.55759	D	1.0	0.90584	D	0.998	0.88582	D	0.003425	0.34958	N	0.000000	0.996513	0.22991	N	.	.	.	1.47	0.31987	T	-4.0	0.74051	D	0.357	0.39861	-1.0487	0.14761	T	0.111	0.39935	T	9	0.19854164	0.35829	T	0.005164	0.13125	T	0.087	0.25287	0.133	0.03747	0.501060295512	0.49743	0.007124582389937142	0.00679	.	.	.	.	.	0.103146	0.41153	T	-0.312091	0.07566	T	-0.449405	0.27763	T	0.332092344760895	0.26308	T	0.382662	0.09313	T	0.5695518	0.71036	0.51406467	0.71922	0.5695518	0.71037	0.51406467	0.71922	-8.065	0.61513	D	.	.	0.125	0.26451	B	.	.	2.117272	0.26951	17.29	0.86087317848117861	0.16305	0.32842	0.24684	N	AEFI	0.048673	0.08329	N	0.124318779201524	0.47599	2.98337	-0.0285852431560344	0.38428	2.263977	0.00254640962581461	0.09519	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.73	3.73	0.41982	1.496000	0.35246	0.514000	0.19106	0.499000	0.22661	0.798000	0.29695	0.016000	0.20520	0.937000	0.47636	0.0:0.0:1.0:0.0	11.362	0.48886	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	378.98	35	chr1	153070728	.	G	A	378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=785;ExcessHet=0.0000;FS=39.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.40;MQRankSum=-3.895e+00;QD=4.80;ReadPosRankSum=-1.587e+00;SOR=5.659	GT:AD:DP:GQ:PL	0/1:62,17:79:99:393,0,1963	20	0	1	0
chr1	153419305	153419305	A	G	exonic	S100A7A	.	nonsynonymous SNV	S100A7A:NM_176823:exon3:c.A302G:p.Q101R,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.019	B	0.018	B	.	.	1.000	N	2.08	M	3.2	T	-0.952	T	0.009	T	0.269	1.218	9.942	0.56	0.131	0.164	3.370	0.042	0.00168400705179	0.0005	0.00199681	0.0014	0	0.0005	0	0	0.0008	0	0.0069	0.0013001	201	154602	rs116212340	0.0014	0.0014	0.0013	0.0016	0.0068	0.0014	0.0014	0.0064	0.0062	5.974e-05	0.0005	0	0	3.744e-05	0.0009	0.0013	0.0010	0.0068	0.0006	0.0006	0.0005	0.0007	0.0062	0.0005	0.0005	0.0045	0.0039	7.218e-05	0	0.0007	0	0	0	0	0.0008	0	0.0062	0.048	0.40068	D	0.0	0.92824	D	0.019	0.17989	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	2.3	0.65703	M	3.2	0.07236	T	-1.48	0.36189	N	0.05	0.20129	-0.9521	0.40608	T	0.009	0.03011	T	9	0.0075294673	0.00171	T	0.001684	0.02779	T	0.042	0.11227	.	.	0.0401082797425	0.02173	0.08491606816144269	0.08425	0.00599538227409	0.00522	0.328605234623	0.14724	T	0.022223	0.17168	T	-0.56506	0.00237	T	-0.581695	0.14394	T	0.0259639841324826	0.01401	T	0.445855	0.12478	T	0.10875192	0.25712	0.10117091	0.24213	0.10875192	0.25712	0.10117091	0.24212	-3.55	0.17139	T	.	.	0.082	0.08754	B	.;.;.	.;.;.	0.655695	0.10239	6.978	0.94926751534804277	0.25806	0.00564	0.02565	N	AEFBI	0.028948	0.02643	N	-0.9142184530218	0.10508	0.5025153	-1.05627328912969	0.08576	0.422349	1.21003298436433E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.72	0.56	0.16465	0.154000	0.16160	0.774000	0.21422	0.691000	0.84096	0.040000	0.20979	0.000000	0.08366	0.024000	0.12247	0.7684:0.0:0.2316:0.0	3.370	0.06798	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	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	1262.98	33	chr1	153419305	.	A	G	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e+00;DP=1278;ExcessHet=0.0000;FS=8.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-1.365e+00;SOR=0.291	GT:AD:DP:GQ:PL	0/1:82,60:142:99:1277,0,2278	20	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:75,51:133:99:261,0,1005	6	0	15	0
chr1	154508473	154508473	A	G	exonic	TDRD10	.	nonsynonymous SNV	TDRD10:NM_001098475:exon4:c.A133G:p.I45V	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.001	B	.	.	1.000	N	0.15	N	3.39	T	-0.922	T	0.003	T	0.205	-0.516	1.644	-4.26	-1.538	-0.279	10.175	0.035	0.00252677762276	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1441088212	6.881e-06	6.841e-06	8.223e-06	5.528e-06	0.0005	3.48e-06	2.54e-06	0.0001	7.568e-05	0	2.237e-05	0	0	0	0.0005	5.434e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02065	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	3.39	0.05710	T	0.53	0.03297	N	0.084	0.08786	-0.9217	0.45320	T	0.003	0.00897	T	9	0.03454891	0.01667	T	0.002527	0.05065	T	0.035	0.08770	0.489	0.57415	0.0138822411134	0.00435	0.1502467920857204	0.14946	0.309725696324	0.33285	0.371502906084	0.21047	T	1.25E-4	0.00015	T	-0.393134	0.02567	T	-0.719621	0.04814	T	0.015994574523769	0.00381	T	0.505949	0.15996	T	0.016712906	0.00216	0.024230013	0.00440	0.016712906	0.00216	0.024230013	0.00440	-1.814	0.02551	T	.	.	0.066	0.06341	B	.;.	.;.	-0.492313	0.01892	0.156	0.27590144337015471	0.01377	0.00176	0.01036	N	AEFDBI	0.020958	0.00882	N	-1.71112171951841	0.00803	0.03470586	-1.78419470488112	0.00811	0.03620498	0.0838943835037161	0.15940	0.615465	0.37627	0	0.563428	0.19063	0	0.59043	0.30614	0	0.655142	0.61905	0	.	.	2.13	-4.26	0.03497	-0.258000	0.08754	-0.430000	0.09227	-0.775000	0.03392	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2928:0.0:0.7072:0.0	10.175	0.42107	436	0.80373	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif 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	34	chr1	154508473	.	A	G	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=811;ExcessHet=0.0000;FS=4.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=0.233;SOR=0.827	GT:AD:DP:GQ:PL	0/1:52,72:124:99:1847,0,1191	20	0	1	0
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	2/2:0,5,55,0,0,0,0:60:14:2825,1995,1827,195,14,0,2530,1954,195,2413,2530,1954,195,2413,2413,2530,1954,195,2413,2413,2413,2530,1954,195,2413,2413,2413,2413	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	2/2:0,5,55,0,0,0,0:60:14:2825,1995,1827,195,14,0,2530,1954,195,2413,2530,1954,195,2413,2413,2530,1954,195,2413,2413,2413,2530,1954,195,2413,2413,2413,2413	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	2/2:0,5,55,0,0,0,0:60:14:2825,1995,1827,195,14,0,2530,1954,195,2413,2530,1954,195,2413,2413,2530,1954,195,2413,2413,2413,2530,1954,195,2413,2413,2413,2413	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	2/2:0,5,55,0,0,0,0:60:14:2825,1995,1827,195,14,0,2530,1954,195,2413,2530,1954,195,2413,2413,2530,1954,195,2413,2413,2413,2530,1954,195,2413,2413,2413,2413	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	2/2:0,5,55,0,0,0,0:60:14:2825,1995,1827,195,14,0,2530,1954,195,2413,2530,1954,195,2413,2413,2530,1954,195,2413,2413,2413,2530,1954,195,2413,2413,2413,2413	0	1	0	0
chr1	155294721	155294721	G	C	exonic	PKLR	.	nonsynonymous SNV	PKLR:NM_000298:exon6:c.C726G:p.N242K	Adenosine triphosphate, elevated, of erythrocytes, Autosomal dominant;Pyruvate kinase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.938	D	0.045	N	1.000	D	3.595	H	-6.06	D	1.135	D	0.979	D	0.166	3.887	19.76	-2.68	-0.388	-1.880	10.45	0.595	0.341655260524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	0.888	0.48822	P	0.849	0.60615	P	0.045237	0.23558	N	0.450322	0.999594	0.51042	D	3.54	0.93167	H	-6.06	0.99508	D	-4.82	0.80851	D	0.657	0.66700	1.135	0.99931	D	0.979	0.99346	D	10	0.9393281	0.93260	D	0.341655	0.92031	D	0.595	0.83911	0.792	0.91365	0.985644177017	0.98549	0.7165873046540892	0.71601	0.790516795054	0.65765	0.410496234894	0.26526	T	0.971683	0.99695	D	0.102082	0.64518	D	-0.0911432	0.64076	T	0.989753603935242	0.79975	D	.	.	.	0.74374044	0.80507	0.74636203	0.85007	0.74374044	0.80509	0.74636203	0.85008	-11.003	0.79675	D	.	.	0.549	0.72303	A	.;.	.;.	0.823468	0.11949	8.508	0.99606787017520437	0.74575	0.39501	0.26227	N	AEFDGBI	0.672841	0.63910	D	-0.0554302015315701	0.39360	2.319855	-0.319881123795168	0.27457	1.523694	0.999993969169761	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.48	-2.68	0.05686	-1.603000	0.02181	-6.086000	0.01501	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.371000	0.26133	0.6995:0.0:0.3005:0.0	10.45	0.43702	40	0.97949	Pyruvate kinase, barrel;.	.	.	.	.	.	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	1562.98	34	chr1	155294721	.	G	C	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.45;ReadPosRankSum=-1.166e+00;SOR=0.770	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1577,0,1150	20	0	1	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,19,3:83:99:.:.:288,0,1113,282,1222,2485	3	0	10	7
chr1	156700981	156700981	C	T	exonic	CRABP2	.	nonsynonymous SNV	CRABP2:NM_001878:exon2:c.G142A:p.G48R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.852	P	0.731	P	0.000	D	1.000	D	3.015	M	2.69	T	-1.121	T	0.049	T	0.492	3.905	19.86	1.88	0.639	4.439	8.167	0.227	0.0176580687649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	0.852	0.47012	P	0.731	0.55321	P	0.000007	0.62929	D	0.111454	0.999698	0.48338	D	4.015	0.96844	H	2.69	0.12268	T	-6.94	0.94674	D	0.636	0.64903	-1.1214	0.02245	T	0.049	0.20947	T	10	0.808053	0.80121	D	0.017658	0.39446	T	0.227	0.52620	0.741	0.87317	0.464270400615	0.46053	0.7733356995642817	0.77283	0.296176561892	0.32004	0.637533068657	0.58213	T	0.453112	0.79318	T	-0.0625095	0.42515	T	-0.327567	0.41738	T	0.998577356338501	0.94534	D	0.938406	0.76842	D	0.9065267	0.91973	0.7521044	0.85347	0.9065267	0.91974	0.7521044	0.85348	-13.27	0.90444	D	.	.	0.501	0.64920	A	.;.;.;.	.;.;.;.	4.211654	0.63633	24.6	0.99775008722988667	0.86260	0.91288	0.53232	D	AEFDBI	0.426685	0.49094	N	0.304997913031668	0.56406	3.805127	0.161995541575296	0.47779	3.003209	0.998153235063764	0.36500	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	4.86	1.88	0.24630	4.546000	0.60415	5.969000	0.51963	0.599000	0.40250	0.974000	0.34632	0.999000	0.35428	0.996000	0.76049	0.0:0.7158:0.0:0.2842	8.167	0.30393	502	0.75873	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid 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	0.02381	859.98	40	chr1	156700981	.	C	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.237;SOR=0.760	GT:AD:DP:GQ:PL	0/1:56,35:91:99:874,0,1439	20	0	1	0
chr1	157769983	157769983	G	A	exonic	FCRL2	.	nonsynonymous SNV	FCRL2:NM_001159488:exon4:c.C478T:p.P160S	.	.	429	1040	53	0	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.423	B	0.264	B	0.580	N	1.000	N	0.705	N	4.46	T	-0.957	T	0.002	T	0.215	1.322	10.34	0.007	-0.087	-0.277	4.398	0.021	.	0.0011	0.00379393	0.0036	0.0003	0.0010	0	0.0002	0.0023	0.0044	0.0159	0.0032535	503	154602	rs148305794	0.0023	0.0023	0.0018	0.0028	0.0173	0.0022	0.0022	0.0166	0.0163	0.0002	0.0008	0.0065	7.557e-05	0.0001	0.0116	0.0013	0.0031	0.0173	0.0018	0.0018	0.0017	0.0019	0.0141	0.0016	0.0015	0.0114	0.0104	0.0004	0	0.0008	0.0049	0.0006	0.0002	0.0136	0.0021	0.0028	0.0141	0.219	0.19023	T	0.236	0.24694	T	0.181	0.29111	B	0.17	0.35299	B	0.579767	0.11155	N	0.723684	1	0.08975	N	0.965	0.23975	L	4.46	0.02102	T	-3.99	0.73893	D	0.253	0.28616	-0.9567	0.39789	T	0.002	0.00556	T	10	0.004002124	0.00077	T	.	.	.	0.021	0.04004	.	.	0.0666544352282	0.05500	0.22119002504482954	0.22034	0.0788043633379	0.08867	0.22887390852	0.01886	T	0.206382	0.56571	T	-0.621286	0.00108	T	-0.652237	0.08797	T	0.0390002034673709	0.03511	T	0.753825	0.37593	T	0.05170669	0.09536	0.093767434	0.22163	0.05170669	0.09535	0.093767434	0.22162	-7.183	0.55359	T	.	.	0.103	0.18456	B	.	.	0.225739	0.06078	2.519	0.87320607582066256	0.17143	0.01626	0.05248	N	AEFGBI	0.054106	0.09809	N	-1.03900198144267	0.07805	0.3638216	-1.1024586985933	0.07653	0.3731175	0.00125850611116476	0.08381	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	0.00667	0.13389	0.027000	0.13512	-0.011000	0.13060	0.618000	0.50648	0.054000	0.21560	0.000000	0.08366	0.007000	0.07825	0.2904:0.1662:0.5434:0.0	4.398	0.10802	760	0.50470	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1760.98	33	chr1	157769983	.	G	A	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.061e+00;DP=843;ExcessHet=0.0000;FS=4.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.971;SOR=0.856	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1775,0,1950	20	0	1	0
chr1	159171785	159171785	-	GCTCCT	exonic	CADM3	.	nonframeshift insertion	CADM3:NM_001127173:exon1:c.20_21insGCTCCT:p.L14_F15insLL	.	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0035	0	0.0345	0	0	0.0012	0	0.0238	0.000461	12	26028	rs578171563	0.0005	0.0004	0.0005	0.0006	0.0026	0.0005	0.0005	0.0014	0.0011	0.0002	0.0001	6.936e-05	7.419e-05	4.193e-05	0.0026	0.0006	0.0007	0.0015	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0004	0.0008	0.0006	0.0004	0	0.0005	0	0	0	0	0.0008	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	818.94	25	chr1	159171785	.	C	CGCTCCT	818.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.890e-01;DP=649;ExcessHet=0.0000;FS=7.552;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.13;ReadPosRankSum=1.30;SOR=0.291	GT:AD:DP:GQ:PL	0/1:16,21:37:99:833,0,609	20	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:164,68:239:99:571,0,3270	5	0	16	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,34,39:73:99:1|0:175160809_TC_T:2878,1614,1520,1091,0,1304:175160809	2	5	6	0
chr1	176710175	176710175	T	C	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon11:c.T3650C:p.L1217P,	.	.	439	1059	23	1	0	25	0.0116659	0.0002	0.024	696287	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.459	P	0.112	B	0.001	D	1.000	D	1.355	L	4.73	T	-0.709	T	0.005	T	0.436	1.982	12.58	1.94	0.435	0.981	1.382	0.094	.	0.0021	0.00359425	0.0049	0.0003	0.0009	0.0002	0.0032	0.0019	0.0068	0.0262	0.0042173	652	154602	rs61745526	0.0030	0.0030	0.0024	0.0036	0.0230	0.0029	0.0029	0.0222	0.0219	0.0002	0.0012	0.0048	5.039e-05	0.0031	0.0040	0.0017	0.0031	0.0230	0.0022	0.0022	0.0020	0.0024	0.0170	0.0020	0.0019	0.0141	0.0130	0.0003	0	0.0025	0.0058	0	0.0027	0.0034	0.0021	0.0028	0.0170	0.139	0.25768	T	0.113	0.36901	T	0.459	0.36338	P	0.112	0.31615	B	0.000784	0.41772	D	0.292946	0.993073	0.41828	D	1.1	0.28011	L	4.73	0.01620	T	-0.02	0.07299	N	0.451	0.48872	-0.7085	0.60026	T	0.005	0.01578	T	10	0.005887717	0.00132	T	.	.	.	0.094	0.27141	.	.	0.307016933798	0.30308	0.708437537603531	0.70785	0.394741684332	0.40623	0.275438189507	0.06865	T	0.06599	0.32829	T	-0.522437	0.00426	T	-0.504968	0.21832	T	0.0113079434055903	0.00167	T	0.475152	0.14192	T	0.05695342	0.11272	0.07811483	0.17466	0.05695342	0.11271	0.07811483	0.17466	-4.195	0.26679	T	.	.	0.128	0.27252	B	.	.	2.359567	0.30260	18.38	0.98010147429630201	0.37551	0.68985	0.34011	D	AEFI	0.201366	0.32803	N	-0.344567882057387	0.27471	1.50752	-0.262300668550359	0.29350	1.643689	2.80146031325879E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	1.94	0.25058	0.579000	0.23490	2.451000	0.32813	-0.157000	0.11712	0.993000	0.37899	1.000000	0.68203	0.687000	0.33748	0.2441:0.094:0.1374:0.5245	1.382	0.02099	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	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	2736.11	35	chr1	176710175	.	T	C	2736.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=855;ExcessHet=0.1072;FS=0.587;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-3.970e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1180,0,1187	19	0	2	0
chr1	197090048	197090048	T	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon24:c.A5111G:p.N1704S	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.841	P	0.277	B	0.001	D	0.958	N	1.7	L	0.87	T	-0.977	T	0.094	T	0.126	3.021	16.08	5.75	2.185	2.805	11.136	0.089	0.00788995612606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051596842	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0003	6.4e-07	4.3e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	1.799e-06	0	0	6.58e-06	6.567e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.064	0.36509	T	0.177	0.41913	T	0.841	0.46518	P	0.277	0.40197	B	0.000769	0.41888	D	0.238929	0.958155	0.26235	N	2.045	0.56016	M	0.87	0.46412	T	-2.36	0.52128	N	0.407	0.49328	-0.9771	0.35660	T	0.094	0.35711	T	10	0.15876436	0.29846	T	0.00789	0.20929	T	0.089	0.25827	0.313	0.28774	0.192905019026	0.18896	0.2459216461740362	0.24506	.	.	0.394020527601	0.24235	T	0.125172	0.45070	T	-0.196205	0.21352	T	-0.519612	0.20333	T	0.833598792552948	0.48813	D	0.90351	0.72857	D	0.06406246	0.13553	0.10594706	0.25478	0.06406246	0.13553	0.10594706	0.25477	-6.452	0.49914	T	.	.	0.165	0.36375	B	.;.;.	.;.;.	2.226417	0.28416	17.79	0.99713421873104935	0.81493	0.82370	0.41608	D	AEFGBI	0.215217	0.34060	N	0.158896393288516	0.49233	3.126073	0.282731208260886	0.54532	3.617817	0.901525006063128	0.26104	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	5.75	0.90390	2.826000	0.47805	1.923000	0.29722	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0716:0.0:0.9284	11.136	0.47600	185	0.92771	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2434.98	33	chr1	197090048	.	T	C	2434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=861;ExcessHet=0.0000;FS=0.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-7.840e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/1:93,88:181:99:2449,0,2567	20	0	1	0
chr1	198523513	198523513	C	G	exonic	ATP6V1G3	.	nonsynonymous SNV	ATP6V1G3:NM_001376861:exon3:c.G235C:p.G79R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.004	B	0.007	B	0.022	N	0.915	N	1.5	L	1.02	T	-1.030	T	0.085	T	0.216	-0.132	3.353	3.29	0.760	1.051	10.567	0.035	0.00757147066108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.10245	T	0.495	0.11371	T	0.004	0.12183	B	0.007	0.12992	B	0.021958	0.26730	N	0.422334	1	0.27413	N	2.22	0.62911	M	1.02	0.40749	T	-0.08	0.08495	N	0.105	0.19995	-1.0297	0.20551	T	0.085	0.33128	T	10	0.062035233	0.07870	T	0.007571	0.20086	T	0.035	0.08770	0.379	0.39482	0.110078149338	0.10416	0.19643846345772	0.19560	0.100601861765	0.11367	0.259710431099	0.04857	T	0.007259	0.06675	T	-0.214114	0.18804	T	-0.545336	0.17775	T	0.1603152602911	0.17895	T	.	.	.	0.13682322	0.31704	0.13925584	0.33233	0.13682322	0.31704	0.13925584	0.33232	-2.749	0.07724	T	.	.	0.070	0.03773	B	.;.;.	.;.;.	0.988624	0.13663	10.20	0.4648581947923861	0.03727	0.18381	0.20237	N	AEFDGBCI	0.079982	0.16163	N	-0.778272750344026	0.13878	0.6869211	-0.785340511752668	0.14854	0.7783192	0.999998036275625	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	3.29	0.36801	0.892000	0.27957	-0.078000	0.12213	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.878000	0.41950	0.0:0.8457:0.0:0.1543	10.567	0.44365	766	0.49742	.;.;.	.	.	.	.	.	Uncertain significance	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	409.98	37	chr1	198523513	.	C	G	409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.228e+00;DP=819;ExcessHet=0.0000;FS=5.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-1.590e-01;SOR=0.204	GT:AD:DP:GQ:PL	0/1:24,19:43:99:424,0,648	20	0	1	0
chr1	201209540	201209647	GGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	-	exonic	IGFN1	.	nonframeshift deletion	IGFN1:NM_001164586:exon12:c.4647_4754del:p.E1556_S1591del,	.	.	426	1075	15	0	6	21	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0	0	0	0.0073	0	0.0014	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	3.963e-05	0.0004	0.0221	0	0	0.0011	0.0001	0.0017	0.0011	0.0015	0.0012	0.0015	0.0015	0.0029	0.0013	0.0012	0.0014	0.0010	0.0002	0	0.0007	0.0425	0	0	0	0.0003	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7193.51	294	chr1	201209539	.	CGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	GGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG,C	7193.51	.	AC=5,1;AF=0.250,0.050;AN=20;BaseQRankSum=3.28;DP=5820;ExcessHet=1.7912;FS=3.273;InbreedingCoeff=-0.3775;MLEAC=8,2;MLEAF=0.400,0.100;MQ=58.68;MQRankSum=-1.180e+01;QD=4.16;ReadPosRankSum=-5.710e+00;SOR=1.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,35,0:279:99:0|1:201209539_C_G:660,0,9688,1403,9674,11092:201209539	4	0	5	11
chr1	201209552	201209552	A	0	exonic	IGFN1	.	.	.	.	.	427	1062	28	0	5	33	0.0130112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6307.61	317	chr1	201209552	.	A	G,*	6307.61	.	AC=5,1;AF=0.417,0.083;AN=12;BaseQRankSum=-1.020e-01;DP=6709;ExcessHet=1.7912;FS=4.049;InbreedingCoeff=-0.4737;MLEAC=9,2;MLEAF=0.750,0.167;MQ=58.39;MQRankSum=-1.237e+01;QD=3.47;ReadPosRankSum=-6.142e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,51,0:299:99:0|1:201209539_C_G:1194,0,9771,1988,9879,12145:201209539	0	0	5	15
chr1	203486733	203486733	A	G	exonic	PRELP	.	nonsynonymous SNV	PRELP:NM_002725:exon3:c.A1001G:p.N334S	.	.	425	1034	60	3	0	66	0.0309278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.003	B	0.320	N	1.000	N	-0.55	N	3.68	T	-0.900	T	0.004	T	0.113	-1.525	0.016	-0.025	0.025	0.208	6.184	0.016	.	0.0052	0.00758786	0.0095	0.0014	0.0024	0	0.0136	0.0086	0.0066	0.0267	0.0087062	1346	154602	rs2233732	0.0072	0.0072	0.0064	0.0079	0.0272	0.0070	0.0070	0.0262	0.0259	0.0004	0.0016	0.0025	5.044e-05	0.0145	0.0115	0.0060	0.0067	0.0272	0.0056	0.0056	0.0048	0.0065	0.0232	0.0053	0.0052	0.0198	0.0184	0.0013	0	0.0016	0.0020	0	0.0160	0.0102	0.0071	0.0038	0.0232	1.0	0.00964	T	0.743	0.04930	T	0.0	0.02946	B	0.003	0.08700	B	0.320284	0.14282	N	0.686157	1	0.08975	N	0.14	0.08730	N	3.68	0.04151	T	0.43	0.03297	N	0.082	0.05799	-0.8997	0.48024	T	0.004	0.01261	T	10	0.0030761957	0.00051	T	.	.	.	0.016	0.02506	.	.	0.314716216878	0.31082	0.37569064836316246	0.37483	0.244964202467	0.27014	0.271674275398	0.06360	T	0.126654	0.45317	T	-0.673857	0.00052	T	-0.719775	0.04807	T	0.00674077304250171	0.00076	T	0.630137	0.24490	T	0.039595705	0.05495	0.05605384	0.09946	0.039595705	0.05495	0.05605384	0.09946	-2.302	0.04566	T	.	.	0.058	0.00670	B	.	.	0.390899	0.07625	4.288	0.21749631327509414	0.00843	0.10202	0.15773	N	AEFBI	0.179498	0.30679	N	-1.17441942802711	0.05389	0.2455513	-1.11938639794999	0.07330	0.3561344	0.999580077036567	0.40607	0.581397	0.33459	0	0.547309	0.14657	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.45	-0.0252	0.13262	0.099000	0.15047	1.477000	0.26794	0.756000	0.94297	0.000000	0.06391	0.213000	0.23658	0.773000	0.36634	0.5174:0.2678:0.2148:0.0	6.184	0.19702	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3808.68	45	chr1	203486733	.	A	G	3808.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.377;DP=1083;ExcessHet=0.3300;FS=0.796;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.010;SOR=0.649	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1190,0,1761	18	0	3	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	0/1:103,48:151:99:.:.:488,0,2122	10	0	11	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	0/1:118,126:244:99:3174,0,2813	18	0	3	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.012	B	0.006	B	0.387	N	0.996	N	0.9	L	1.98	T	-0.979	T	0.033	T	0.095	1.289	10.22	4.32	0.912	3.074	9.207	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	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	0.1905	842.74	162	chr1	214645259	.	T	C	842.74	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-4.014e+00;DP=2279;ExcessHet=3.5521;FS=127.609;InbreedingCoeff=-0.2304;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=1.21;SOR=11.454	GT:AD:DP:GQ:PL	0/1:159,27:186:11:11,0,3543	13	0	8	0
chr1	216292337	216292337	G	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon10:c.C1678T:p.P560S	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	1470851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.975	D	0.018	N	1.000	D	3.13	M	0.08	T	-0.198	T	0.405	T	0.299	3.567	18.18	3.9	1.041	3.836	9.037	0.507	0.265531050967	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs147509797	4.105e-06	4.104e-06	4.084e-06	4.126e-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	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.041	0.50514	D	0.999	0.77913	D	0.96	0.73362	D	0.017740	0.27651	N	0.170250	1	0.81001	D	2.925	0.84406	M	0.08	0.61559	T	-4.86	0.82221	D	0.616	0.63204	-0.1978	0.77727	T	0.405	0.75501	T	10	0.76943696	0.76963	D	0.265531	0.89677	D	0.507	0.78786	.	.	0.918473588734	0.91765	0.8522833187631198	0.85190	0.238160017466	0.26361	0.391883283854	0.23935	T	0.400848	0.75831	T	-0.0522605	0.44103	T	-0.312845	0.43353	T	0.990870177745819	0.81111	D	0.715328	0.32778	T	0.2519444	0.48207	0.28536314	0.54539	0.2519444	0.48207	0.28536314	0.54538	-8.289	0.64217	D	.	.	0.211	0.48908	B	.;.	.;.	3.070662	0.41274	21.3	0.99853801270509912	0.93279	0.91730	0.54141	D	AEFI	0.484885	0.52471	N	0.462652642526532	0.64923	4.758281	0.375675220774263	0.60068	4.190509	0.0015309404475454	0.08613	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.81	3.9	0.44240	3.747000	0.54853	4.303000	0.42946	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0787:0.1468:0.7745:0.0	9.037	0.35458	854	0.34840	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	34	chr1	216292337	.	G	A	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=797;ExcessHet=0.0000;FS=3.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.64;SOR=1.109	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1235,0,1436	20	0	1	0
chr1	219193204	219193204	T	C	exonic	LYPLAL1	.	nonsynonymous SNV	LYPLAL1:NM_001300770:exon3:c.T266C:p.I89T	.	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.997	D	0.000	D	1.000	D	3.21	M	1.38	T	-0.282	T	0.302	T	0.95	4.201	21.8	5.53	2.222	6.372	15.944	0.575	0.0337252076411	0.0012	0.000199681	0.0017	0.0004	8.872e-05	0	0.0003	0.0026	0	0.0014	0.00152	235	154602	rs145589411	0.0013	0.0013	0.0013	0.0013	0.0016	0.0012	0.0012	0.0014	0.0013	0.0002	0.0005	0.0208	2.528e-05	0.0002	0.0005	0.0009	0.0021	0.0016	0.0013	0.0013	0.0013	0.0014	0.0024	0.0012	0.0011	0.0018	0.0016	0.0003	0	0.0024	0.0162	0.0002	0.0002	0	0.0012	0.0014	0.0019	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.997	0.86255	D	0.000005	0.62929	D	0.106914	0.999967	0.52935	D	3.285	0.90273	M	1.38	0.34050	T	-4.57	0.78721	D	0.938	0.94432	-0.2824	0.75475	T	0.302	0.67288	T	10	0.04086089	0.02690	T	0.033725	0.55185	D	0.575	0.82799	.	.	0.571728244252	0.56839	0.7986868795339926	0.79821	0.00941755990224	0.00855	0.572254776955	0.48997	T	0.050203	0.28529	T	-0.0244457	0.48217	T	0.16203	0.80931	D	0.094596633261819	0.11751	T	0.891311	0.62583	D	0.9456722	0.95825	0.8649636	0.92519	0.9456722	0.95825	0.8649636	0.92519	-12.298	0.86969	D	.	.	0.353	0.57963	A	.;.	.;.	4.648673	0.74080	26.1	0.99855075562634055	0.93368	0.94846	0.62532	D	AEFGBI	0.829964	0.74877	D	0.819833960373444	0.87329	9.180681	0.743943629849547	0.85703	8.660618	0.99999994410915	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	6.114000	0.71248	7.821000	0.69751	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.944	0.79564	894	0.26265	Phospholipase/carboxylesterase/thioesterase;.	.	.	.	.	.	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	1795.98	41	chr1	219193204	.	T	C	1795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=955;ExcessHet=0.0000;FS=1.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.286e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1810,0,1987	20	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:75,34:117:54:54,0,1144	10	0	11	0
chr1	222629480	222629480	T	A	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.T2260A:p.F754I	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.029	B	0.023	B	.	.	1.000	N	1.1	L	3.76	T	-1.006	T	0.089	T	0.173	1.832	12.09	0.699	0.012	-0.335	8.758	0.012	0.0143155709012	0.0009	0.000199681	0.0012	0.0002	0.0006	0	0.0012	0.0016	0	0.0013	0.0011772	182	154602	rs200192078	0.0013	0.0013	0.0013	0.0013	0.0014	0.0013	0.0012	0.0013	0.0013	0	0.0010	0.0014	0	0.0021	0.0007	0.0014	0.0010	0.0012	0.0011	0.0011	0.0012	0.0010	0.0016	0.0010	0.0009	0.0013	0.0012	0.0002	0.0143	0.0012	0.0006	0	0.0012	0	0.0016	0.0019	0.0006	0.188	0.21304	T	0.174	0.30045	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	3.76	0.03892	T	0.07	0.06138	N	0.108	0.09349	-1.0064	0.28034	T	0.089	0.34325	T	9	0.0058579743	0.00131	T	0.014316	0.34357	T	0.017	0.02790	.	.	0.258283824007	0.25425	0.04700691661222747	0.04643	0.0857344890046	0.09686	0.254468142986	0.04253	T	0.001656	0.01084	T	-0.606267	0.00133	T	-0.649804	0.08967	T	0.00323488204520858	0.00034	T	0.476552	0.14308	T	0.09427926	0.22162	0.055218413	0.09643	0.09427926	0.22162	0.055218413	0.09643	-2.714	0.07421	T	.	.	0.067	0.02399	B	.	.	0.120358	0.05179	1.696	0.93429112851722329	0.23200	0.23573	0.22119	N	AEFBCI	0.058007	0.10850	N	-0.687604010051407	0.16374	0.833661	-0.820291829971597	0.14004	0.7294964	0.0387698152443059	0.14363	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.37	0.699	0.17252	-0.332000	0.07948	-2.303000	0.03926	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.0:0.4054:0.0:0.5946	8.758	0.33818	910	0.22284	.	.	.	.	.	.	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	1569.98	94	chr1	222629480	.	T	A	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-02;DP=1963;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.985e+00;SOR=0.584	GT:AD:DP:GQ:PL	0/1:77,59:136:99:1584,0,2073	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	0/1:8,12,0:20:99:463,0,280,487,316,802	8	0	12	0
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	464.81	81	chr1	225353861	.	A	G,*	464.81	.	AC=5,2;AF=0.147,0.059;AN=34;BaseQRankSum=-1.464e+00;DP=1141;ExcessHet=2.7391;FS=185.320;InbreedingCoeff=-0.2299;MLEAC=5,2;MLEAF=0.147,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.83;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,25,0:93:99:.:.:140,0,1881,359,2054,2878	10	0	5	4
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.987	D	.	.	1.000	D	.	.	3.07	T	-1.168	T	0.067	T	0.206	3.493	17.86	4.96	2.441	4.553	15.452	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,22,0,0:94:99:.:.:140,0,1881,359,2054,2878,359,2054,2878,2878	12	0	5	1
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,22,0,0:94:99:.:.:140,0,1881,359,2054,2878,359,2054,2878,2878	12	0	5	1
chr1	225353862	225353862	C	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,22,0,0:94:99:.:.:140,0,1881,359,2054,2878,359,2054,2878,2878	12	0	5	1
chr1	225399269	225399269	A	T	exonic	DNAH14	.	stoploss	DNAH14:NM_001367479:exon86:c.A13854T:p.X4618Y,	.	.	446	1055	19	2	0	23	0.0107829	.	.	2816106	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.830	12.08	3.25	0.849	1.844	7.546	.	.	0.0088	0.00199681	0.0080	0.0010	0.0110	0	0.0043	0.0100	0.0169	0.0086	0.0021863	338	154602	rs41305733	0.0082	0.0079	0.0080	0.0083	0.0095	0.0080	0.0080	0.0090	0.0090	0.0014	0.0033	0.0024	5.601e-05	0.0049	0.0095	0.0092	0.0074	0.0068	0.0064	0.0064	0.0066	0.0062	0.0101	0.0060	0.0059	0.0094	0.0092	0.0015	0.0230	0.0055	0.0029	0	0.0062	0.0034	0.0101	0.0052	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.159	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2275	0.16981	T	-0.0891767	0.64224	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.245676	0.06257	2.709	0.77826113864670554	0.12038	0.85190	0.44301	D	AEFDBI	.	.	.	-0.120048347955809	0.36520	2.11208	-0.146601085914856	0.33539	1.919571	0.282508983074451	0.19002	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.09929	0.02979	0	0.224045	0.31500	4.38	3.25	0.36363	1.885000	0.39312	5.840000	0.50240	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.149000	0.20271	0.8996:0.0:0.1004:0.0	7.546	0.26936	634	0.64659	.;.;.	DNAH14	Cells_Cultured_fibroblasts	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2060.11	35	chr1	225399269	.	A	T	2060.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.960e-01;DP=880;ExcessHet=0.1072;FS=3.517;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-2.740e-01;SOR=1.090	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1247,0,997	19	0	2	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	0/1:62,42,9:113:99:122,0,1015,230,1059,1329	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	0/1:62,42,9:113:99:122,0,1015,230,1059,1329	3	0	12	4
chr1	228487495	228487495	C	T	exonic	RNF187	.	nonsynonymous SNV	RNF187:NM_001010858:exon1:c.C7T:p.L3F,	.	.	431	1087	3	1	0	5	0.00229463	.	.	2345098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1006476921	0.0003	0.0002	0.0003	0.0003	0.0064	0.0002	0.0002	0.0039	0.0032	0.0003	0.0006	0.0003	0	0	0.0064	0.0002	0.0001	0.0016	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	4.839e-05	0	0.0004	0.0003	0	9.992e-05	0.0103	0.0002	0	0.0008	.	.	.	0.0	0.92824	D	0.948	0.53620	P	0.478	0.47030	P	.	.	.	.	0.998461	0.22137	N	1.43	0.35840	L	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.16893631	0.31473	T	.	.	.	.	.	.	.	0.651660614473	0.64876	0.1813352742045692	0.18052	.	.	0.817205429077	0.84600	D	0.036184	0.24008	T	-0.036724	0.46434	T	-0.290528	0.45718	T	.	.	.	.	.	.	0.06026763	0.12347	0.15776184	0.36874	0.06026763	0.12346	0.15776184	0.36873	-5.347	0.40406	T	.	.	0.119	0.24532	B	.;.	.;.	2.787682	0.36639	20.3	0.9677352149948798	0.31045	0.03330	0.08404	N	ALL	.	.	.	.	.	.	.	.	.	0.999999301839419	0.74766	0.142881	0.03202	1	0.090139	0.02499	0	0.158946	0.03948	1	0.088244	0.02422	0	0.12303	0.24969	3.46	2.21	0.27042	0.326000	0.19391	0.488000	0.18872	0.387000	0.20461	0.002000	0.15269	0.000000	0.08366	0.953000	0.50222	0.0:0.7429:0.2571:0.0	11.220	0.48078	288	0.88579	.;.	.	.	.	.	.	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	1443.11	34	chr1	228487495	.	C	T	1443.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.720e-01;DP=794;ExcessHet=0.1072;FS=2.263;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.515;SOR=0.502	GT:AD:DP:GQ:PL	0/1:39,38:77:99:875,0,989	19	0	2	0
chr1	235791906	235791906	G	A	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon12:c.C4336T:p.R1446W	Chediak-Higashi syndrome, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	941796	Spastic_ataxia|not_provided|Chédiak-Higashi_syndrome	Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226|MedGen:C3661900|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.528	P	0.812	N	1.000	D	0.69	N	0.05	T	-0.803	T	0.206	T	0.246	3.836	19.48	4.82	1.511	4.780	14.424	0.147	0.030860826904	.	.	7.415e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs200276917	6.499e-05	6.498e-05	6.534e-05	6.463e-05	0.0014	5.428e-05	5.042e-05	0.0007	0.0005	2.987e-05	0.0001	0	0	0	0.0014	6.385e-05	0.0001	2.319e-05	9.85e-05	9.843e-05	8.996e-05	0.0001	0.0002	6.003e-05	4.877e-05	6.806e-05	5.089e-05	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0	0.028	0.46129	D	0.034	0.52727	D	0.992	0.64738	D	0.513	0.47989	P	0.811968	0.09244	N	0.930000	1	0.81001	D	1.61	0.41143	L	0.05	0.61923	T	-2.55	0.55181	D	0.411	0.45142	-0.8033	0.54950	T	0.206	0.56444	T	10	0.3091087	0.48401	T	0.030861	0.53076	D	0.147	0.38986	.	.	0.34936206512	0.34543	0.48117319188314295	0.48037	.	.	0.207420796156	0.00706	T	0.229094	0.59482	T	-0.26321	0.12526	T	-0.379191	0.35816	T	0.170652747154236	0.18624	T	0.954005	0.82493	D	0.114483014	0.27025	0.10930218	0.26342	0.114483014	0.27025	0.10930218	0.26341	-5.467	0.41559	T	0.11129387365848188	0.09500	0.099	0.16626	B	.	.	4.011013	0.59175	24.1	0.99922044094809404	0.98852	0.95754	0.66012	D	AEFDBI	0.776058	0.70928	D	0.328953870541399	0.57639	3.932099	0.381663525327703	0.60434	4.231015	0.821026398408441	0.24524	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.76	4.82	0.61641	4.854000	0.62617	3.362000	0.37867	0.676000	0.76740	1.000000	0.71638	0.992000	0.31684	0.865000	0.41091	0.0:0.0:0.8479:0.1521	14.424	0.66775	840	0.37365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	33	chr1	235791906	.	G	A	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=797;ExcessHet=0.0000;FS=3.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-1.710e-01;SOR=0.763	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1460,0,1254	20	0	1	0
chr1	236048737	236048737	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon2:c.G478A:p.V160M,	.	.	426	1094	2	0	0	2	0.000913242	.	.	718817	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.804	P	0.272	B	0.025	N	0.962	D	1.93	M	1.82	T	-1.093	T	0.015	T	0.067	1.400	10.62	0.717	0.239	1.281	10.309	0.075	.	0.0046	0.00658946	0.0016	0.0163	0.0009	0	0	0.0003	0.0034	6.106e-05	0.0016753	259	154602	rs111493675	0.0007	0.0008	0.0008	0.0007	0.0174	0.0007	0.0007	0.0162	0.0158	0.0174	0.0011	0	0	1.874e-05	0.0053	0.0003	0.0016	0.0001	0.0048	0.0048	0.0048	0.0047	0.0154	0.0045	0.0044	0.0144	0.0140	0.0154	0	0.0024	0	0	0	0.0170	0.0004	0.0085	0	0.085	0.32769	T	0.086	0.40909	T	0.804	0.45171	P	0.272	0.39956	B	0.024640	0.26229	N	0.433062	0.961688	0.38249	D	2.78	0.81115	M	1.82	0.25018	T	-1.96	0.47683	N	0.325	0.36569	-1.0934	0.04989	T	0.015	0.06090	T	10	0.0074703097	0.00170	T	.	.	.	0.075	0.21907	.	.	0.288727942641	0.28479	0.7334363856564982	0.73288	0.257231272302	0.28296	0.392056941986	0.23959	T	0.225721	0.59053	T	-0.594098	0.00158	T	-0.612531	0.11781	T	0.0208649300015993	0.00787	T	0.780422	0.41514	T	0.04031901	0.05732	0.06409417	0.12796	0.0361578	0.04393	0.06920216	0.14551	-6.373	0.50302	T	0.1733430893789255	0.21956	0.349	0.56520	A	.;.	.;.	1.491097	0.19183	14.13	0.97222912284562468	0.32910	0.82837	0.42012	D	AEFDBI	0.186638	0.31394	N	-0.450061785569921	0.23737	1.276853	-0.485817878851585	0.22544	1.22497	0.00211785670443547	0.09166	0.719381	0.83141	0	0.633656	0.55848	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.81	0.717	0.17352	1.461000	0.34866	0.351000	0.17477	-0.861000	0.02628	0.771000	0.29368	0.023000	0.20922	0.595000	0.31264	0.0:0.7204:0.0:0.2796	10.309	0.42879	506	0.75555	.;NIDO domain|NIDO 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	977.98	35	chr1	236048737	.	C	T	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=801;ExcessHet=0.0000;FS=3.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-4.220e-01;SOR=1.112	GT:AD:DP:GQ:PL	0/1:63,42:105:99:992,0,1547	20	0	1	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	12956.77	99	chr1	240207641	.	T	C,*	12956.77	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=0.528;DP=1591;ExcessHet=3.2961;FS=0.558;InbreedingCoeff=-0.1667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=59.90;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.299;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,53,0:86:99:0|1:240207641_T_C:2046,0,1206,2146,1366,3511:240207641	10	1	8	0
chr1	240207702	240207702	A	G	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.A2890G:p.I964V	Mental retardation, autosomal recessive 47, Autosomal recessive	.	502	1018	2	0	0	2	0.000981354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.008	B	.	.	1.000	N	1.525	L	0.25	T	-0.991	T	0.134	T	0.152	0.413	6.241	0.052	0.162	-0.104	7.364	0.020	0.045169975221	.	.	0.0009	0.0001	0.0003	0	0.0006	0.0008	0.0012	0.0029	0.0006792	105	154602	rs776640303	0.0003	0.0007	0.0002	0.0004	0.0017	0.0003	0.0003	0.0015	0.0014	6.978e-05	9.794e-05	0.0003	0	0.0004	0.0003	0.0002	0.0003	0.0017	0.0004	0.0008	0.0003	0.0005	0.0031	0.0003	0.0003	0.0016	0.0012	0	0	0	0	0	0.0008	0	0.0005	0	0.0031	0.615	0.05388	T	0.551	0.09393	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.3	0.32576	L	0.25	0.59449	T	0.05	0.06369	N	0.13	0.12484	-0.9911	0.32321	T	0.134	0.44759	T	8	0.009694606	0.00218	T	0.04517	0.61848	D	0.020	0.03691	.	.	0.557001845264	0.55359	0.09877377751566296	0.09808	0.0764687173322	0.08578	0.632085978985	0.57441	T	0.043795	0.26613	T	-0.192238	0.21931	T	-0.513913	0.20913	T	0.016704989235439	0.00428	T	0.319168	0.06405	T	0.03611048	0.04378	0.028300984	0.01054	0.03611048	0.04378	0.028300984	0.01054	-9.421	0.70367	D	.	.	0.174	0.38117	B	.	.	0.607304	0.09760	6.525	0.2992420813018698	0.01611	0.01614	0.05222	N	AEFDBI	0.039301	0.05688	N	-1.14381891665177	0.05882	0.2693365	-1.2162111483275	0.05648	0.2697381	0.0111675618054455	0.12141	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.69	0.052	0.13617	-0.403000	0.07275	0.018000	0.13546	0.330000	0.19542	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7102:0.0:0.2898:0.0	7.364	0.25933	976	0.04745	Formin Homology 1|Formin, FH2 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	206.98	87	chr1	240207702	.	A	G	206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=1422;ExcessHet=0.0000;FS=1.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.08;MQRankSum=-1.820e-01;QD=2.72;ReadPosRankSum=-1.372e+00;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,10:76:99:1|0:240207641_T_C:221,0,2741:240207641	20	0	1	0
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|1:23,5,0:28:75:0|1:240207779_T_G:75,0,725,144,739,883:240207779	19	0	1	0
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|1:13,4,0,0:17:78:0|1:240207779_T_G:78,0,494,117,504,621,117,504,621,621:240207779	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	1|1:4,11,0:15:4:1|1:240207818_A_T:434,4,0,442,33,470:240207818	9	1	4	6
chr1	247949492	247949492	G	C	exonic	OR2L8	.	nonsynonymous SNV	OR2L8:NM_001001963:exon1:c.G635C:p.G212A,	.	.	431	954	137	0	0	137	0.0669927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.001	B	0.021	B	0.447	U	1.000	N	-0.13	N	1.28	T	-1.057	T	0.035	T	0.097	-1.748	0.010	-3.61	-1.273	-1.473	5.646	0.013	0.000755472054538	.	.	9.101e-05	0.0002	0	0	0	0.0001	0	0	0.0004995	13	26028	rs200574966	0.0001	0.0061	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	3.033e-05	0	3.861e-05	2.558e-05	5.693e-05	0.0002	0.0002	0.0001	5.872e-05	0.0003	0.0084	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0.0002	9.756e-05	0	7.505e-05	0.0015	0.0004	.	.	.	.	.	.	0.001	0.07471	B	0.021	0.19346	B	0.446818	0.12558	U	0.592578	1	0.08975	N	0.175	0.09039	N	.	.	.	.	.	.	.	.	-1.0572	0.12465	T	0.035	0.15247	T	10	0.05015081	0.04707	T	7.55E-4	0.00529	T	.	.	.	.	.	.	0.0971041359842281	0.09641	.	.	0.196209579706	0.00355	T	0.00371	0.03121	T	-0.33051	0.06074	T	-0.712531	0.05166	T	0.0468932795453433	0.04946	T	0.0759924	0.00559	T	0.051389877	0.09430	0.047986154	0.07030	0.051389877	0.09429	0.047986154	0.07030	-3.461	0.15890	T	.	.	0.070	0.03588	B	.	.	-0.753225	0.01203	0.059	0.75514092856022963	0.11104	0.00220	0.01242	N	AEFI	0.015257	0.00282	N	-1.56839154189077	0.01430	0.06237095	-1.65869361444473	0.01331	0.0600902	6.44935728979901E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.8	-3.61	0.04264	-1.360000	0.02706	.	.	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2703:0.1902:0.5394	5.646	0.16867	946	0.12043	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	96.06	244	chr1	247949492	.	G	C	96.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.03;DP=4391;ExcessHet=0.0000;FS=26.825;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=52.08;MQRankSum=-3.821e+00;QD=0.36;ReadPosRankSum=-3.328e+00;SOR=2.923	GT:AD:DP:GQ:PL	0/1:241,24:265:99:110,0,7407	20	0	1	0
chr1	248061345	248061345	C	T	exonic	OR2L3	.	nonsynonymous SNV	OR2L3:NM_001004687:exon1:c.C664T:p.L222F,	.	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.051	B	0.17	B	0.467	N	1.000	N	0.665	N	1.16	T	-0.989	T	0.060	T	0.074	-0.290	2.614	-0.412	0.186	-4.305	1.221	0.017	0.000984549290668	.	.	0.0006	0.0020	0.0003	0.0009	0	0.0005	0	0.0002	3.84e-05	1	26028	rs267598494	1.368e-06	7.798e-05	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	1.317e-05	1.97e-05	2.573e-05	0	6.557e-05	2.19e-06	8.2e-07	.	.	0	0	6.557e-05	0	0	0	0	1.471e-05	0	0	0.223	0.18757	T	0.29	0.21011	T	0.051	0.22415	B	0.17	0.35299	B	0.467142	0.04905	N	1.498970	1	0.08975	N	1.225	0.30651	L	1.16	0.38073	T	-1.77	0.41809	N	0.026	0.00527	-0.9886	0.32953	T	0.060	0.25018	T	10	0.02363199	0.00624	T	9.85E-4	0.01026	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.08157046419375427	0.08092	0.191262218159	0.21451	0.220514073968	0.01340	T	0.007414	0.06818	T	-0.343008	0.05183	T	-0.730484	0.04306	T	0.0779145658016205	0.09718	T	0.130487	0.01027	T	0.07188239	0.15949	0.075451136	0.16611	0.07188239	0.15948	0.075451136	0.16610	-6.291	0.48650	T	.	.	0.1	0.18164	B	.;.;.	.;.;.	-0.009003	0.04221	1.035	0.8335356933921042	0.14680	0.00322	0.01690	N	AEFI	0.025184	0.01684	N	-1.33902880764424	0.03240	0.1443973	-1.4294856341876	0.02961	0.137235	1.75159949933668E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.05	-0.412	0.11750	-4.763000	0.00219	-20.000000	0.00162	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1668:0.4114:0.1651:0.2566	1.221	0.01808	912	0.21483	GPCR, rhodopsin-like, 7TM;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	0.02381	1112.98	157	chr1	248061345	.	C	T	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.216e+00;DP=1045;ExcessHet=0.0000;FS=15.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.64;MQRankSum=-5.748e+00;QD=4.36;ReadPosRankSum=-1.180e+00;SOR=1.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,43:255:99:0|1:248061341_T_C:1127,0,8659:248061341	20	0	1	0
chr1	248061438	248061438	C	A	exonic	OR2L3	.	nonsynonymous SNV	OR2L3:NM_001004687:exon1:c.C757A:p.P253T,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.99	D	0.008	U	1.000	N	-0.37	N	9.01	T	-0.852	T	0.000	T	0.19	-1.749	0.010	0.848	1.119	-2.979	0.768	0.059	0.001115793071	7.7e-05	0.000399361	0.0003	0	8.655e-05	0	0	0.0001	0.0011	0.0013	0.0002264	35	154602	rs368310262	0.0001	0.0001	7.623e-05	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0002	0.0003	0	0	0.0021	3.237e-05	0.0002	0.0012	9.199e-05	9.844e-05	5.144e-05	0.0001	0.0019	5.528e-05	4.365e-05	0.0010	0.0007	0	0	6.54e-05	0	0	0	0	4.412e-05	0.0005	0.0019	0.243	0.17526	T	0.326	0.18789	T	1.0	0.90584	D	0.99	0.78936	D	0.007918	0.31126	U	0.000000	1	0.08975	N	0.55	0.14455	N	9.01	0.00020	T	-4.71	0.79915	D	0.11	0.09631	-0.8520	0.51830	T	0.000	0.00114	T	10	0.017534703	0.00375	T	0.001116	0.01336	T	0.059	0.16972	.	.	0.40218521252	0.39833	0.14005197133322314	0.13928	0.256323220609	0.28213	0.216883599758	0.01138	T	0.017516	0.14276	T	-0.626541	0.00100	T	-0.708137	0.05391	T	0.127699936161778	0.15167	T	0.808019	0.45805	T	0.12237542	0.28758	0.12899971	0.31027	0.12237542	0.28758	0.12899971	0.31026	-6.663	0.51531	T	.	.	0.201	0.45918	B	.;.;.	.;.;.	0.575331	0.09437	6.217	0.50778668107399949	0.04444	0.00833	0.03349	N	AEFI	0.024970	0.01631	N	-0.609866271638025	0.18646	0.9697746	-0.817280878670511	0.14076	0.7336739	1.19871803836976E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.01	0.848	0.18105	-2.294000	0.01225	-20.000000	0.00162	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3588:0.3016:0.1875:0.1521	0.768	0.00954	912	0.21483	GPCR, rhodopsin-like, 7TM;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	0.02381	3170.98	157	chr1	248061438	.	C	A	3170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=1150;ExcessHet=0.0000;FS=0.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.13;MQRankSum=6.95;QD=9.03;ReadPosRankSum=1.82;SOR=0.737	GT:AD:DP:GQ:PL	0/1:214,137:351:99:3185,0,5226	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:204,0,63:267:99:0|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:2059,2673,11239,0,8566,8353:248361635	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|1:15,29:44:99:0|1:3388054_C_T:899,0,523:3388054	19	0	2	0
chr2	10080114	10080114	C	T	exonic	CYS1	.	nonsynonymous SNV	CYS1:NM_001037160:exon1:c.G110A:p.R37Q,	.	.	532	988	2	0	0	2	0.00101112	.	.	2359706	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.988	D	0.261	B	.	.	1.000	N	0.55	N	.	.	-1.046	T	0.037	T	0.153	1.171	9.764	1.08	0.525	-1.389	5.379	0.051	0.0122325593483	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1004399636	8.974e-05	7.662e-05	8.965e-05	8.984e-05	0.0027	7.321e-05	6.776e-05	0.0011	0.0007	0.0011	0.0003	0	0	0	0.0027	6.433e-05	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0	0	0	0	0	4.545e-05	0.0005	0	0.0	0.91255	D	0.469	0.12281	T	0.988	0.62325	D	0.261	0.39516	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.96	0.25551	N	0.083	0.05929	-1.0465	0.15389	T	0.037	0.16029	T	8	0.11488977	0.21628	T	0.012233	0.30616	T	0.051	0.14325	0.23	0.15705	0.130388298395	0.12655	0.041673436277691586	0.04112	0.156396254559	0.17651	0.64400601387	0.59133	T	0.275187	0.64771	T	-0.193391	0.21762	T	-0.515569	0.20746	T	0.156482118535905	0.17608	T	0.443756	0.12347	T	0.09457463	0.22239	0.10720445	0.25803	0.09457463	0.22239	0.10720445	0.25803	-4.781	0.34369	T	.	.	0.105	0.19073	B	.	.	0.574334	0.09426	6.208	0.86241767459923091	0.16406	0.00129	0.00800	N	AEFDBHCI	0.035420	0.04555	N	-0.755522789406471	0.14483	0.7218603	-0.956026545756782	0.10783	0.5453501	0.999999956340931	0.74766	0.623204	0.39778	0	0.166054	0.03914	2	0.378051	0.06126	2	0.554799	0.18163	0	.	.	1.08	1.08	0.19456	-1.582000	0.02221	0.193000	0.15765	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	5.379	0.15485	913	0.21160	.	.	.	.	.	.	Uncertain significance	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	42.32	4	chr2	10080114	.	C	T	42.32	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.740e-01;DP=179;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0451;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.05;ReadPosRankSum=1.44;SOR=0.991	GT:AD:DP:GQ:PL	0/1:3,3:6:56:56,0,65	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	0/1:49,21:70:77:.:.:77,0,672	7	0	13	1
chr2	33262794	33262794	A	G	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon10:c.A1513G:p.T505A	.	.	428	1093	1	0	0	1	0.000457247	.	.	719863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.907	P	.	.	1.000	D	1.445	L	1.64	T	-0.258	T	0.243	T	0.622	3.062	16.22	5.29	2.017	7.344	14.493	0.423	.	0.0128	0.0109824	0.0032	0.0359	0.0009	0	0	8.996e-05	0.0033	0	0.0031047	480	154602	rs142857073	0.0009	0.0009	0.0010	0.0008	0.0326	0.0009	0.0008	0.0310	0.0303	0.0326	0.0017	0	0	0	0.0007	1.174e-05	0.0019	8.22e-05	0.0097	0.0097	0.0104	0.0089	0.0337	0.0093	0.0091	0.0322	0.0316	0.0337	0	0.0035	0	0	0	0	7.353e-05	0.0057	0.0002	0.039	0.47745	D	0.147	0.60337	T	0.989	0.63424	D	0.81	0.58608	P	.	.	.	.	0.998483	0.44980	D	0.975	0.24501	L	-1.45	0.80899	T	-2.33	0.54382	N	0.685	0.77883	-0.2577	0.76150	T	0.243	0.61166	T	9	0.004365921	0.00089	T	.	.	.	0.423	0.73152	.	.	0.524456804389	0.52091	0.48123164992443973	0.48043	0.391002037977	0.40307	0.416758179665	0.27391	T	0.475811	0.80671	T	-0.211594	0.19156	T	-0.0495568	0.67052	D	0.0293856541291526	0.01895	T	0.926607	0.73770	D	0.073496036	0.16427	0.113518395	0.27398	0.073496036	0.16427	0.113518395	0.27397	-11.615	0.82925	D	.	.	0.138	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.647692	0.51758	23.1	0.99617086988009773	0.75172	0.98815	0.87215	D	AEFBI	0.745102	0.68788	D	0.377331939773232	0.60196	4.205864	0.357409538057148	0.58954	4.069514	0.999964256053344	0.48965	0.732398	0.92422	0	0.610034	0.51514	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.29	5.29	0.74430	7.358000	0.78724	11.202000	0.89070	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.126000	0.19410	1.0:0.0:0.0:0.0	14.493	0.67248	849	0.35778	.;.;.;.;.;.;.	.	.	.	.	.	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	677.98	33	chr2	33262794	.	A	G	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=754;ExcessHet=0.0000;FS=3.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-5.510e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:33,30:63:99:692,0,734	20	0	1	0
chr2	38818933	38818933	C	T	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon19:c.G3109A:p.V1037M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.021	B	0.018	B	0.380	N	1.000	N	0	N	4.19	T	-0.920	T	0.005	T	0.283	0.737	7.913	-3.26	-1.007	-1.235	2.595	0.019	0.00421433830098	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs200962138	2.668e-05	2.668e-05	2.722e-05	2.613e-05	5.038e-05	1.997e-05	1.754e-05	2.285e-05	2.022e-05	0	0	0	5.038e-05	0	0	3.147e-05	3.311e-05	0	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.469e-05	0	0	0.242	0.17584	T	0.217	0.29056	T	0.003	0.11197	B	0.003	0.08700	B	0.379510	0.04411	N	1.415460	1	0.08975	N	0	0.06538	N	.	.	.	0.43	0.03297	N	0.164	0.17278	-0.9198	0.45581	T	0.005	0.01725	T	10	0.046262175	0.03796	T	0.004214	0.10153	T	0.019	0.03383	0.344	0.33788	0.143124449307	0.13826	0.31547586374200376	0.31460	.	.	0.272951900959	0.06528	T	0.016957	0.13915	T	-0.324251	0.06556	T	-0.534412	0.18848	T	0.0292338671763828	0.01873	T	0.485151	0.14792	T	0.021218158	0.00713	0.045676295	0.06200	0.021218158	0.00713	0.045676295	0.06200	-3.285	0.13545	T	.	.	0.074	0.04889	B	.;.	.;.	-0.480736	0.01930	0.163	0.87858838100913472	0.17535	0.05581	0.11482	N	AEFBHCI	0.033898	0.04106	N	-1.40210274990476	0.02620	0.1159674	-1.38781915085254	0.03381	0.1575926	0.458409384781818	0.20602	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.07	-3.26	0.04750	-1.244000	0.03013	-2.192000	0.04078	-1.776000	0.00658	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.1852:0.196:0.0922:0.5267	2.595	0.04557	665	0.61472	.;.	.	.	.	.	.	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	1378.98	35	chr2	38818933	.	C	T	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.886;DP=806;ExcessHet=0.0000;FS=0.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.620e-01;SOR=0.808	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1393,0,1670	20	0	1	0
chr2	39013966	39013966	G	A	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_001382394:exon12:c.C1943T:p.P648L	Noonan syndrome 4, Autosomal dominant	.	4	1509	9	0	0	9	0.00297324	.	.	49162	not_provided|Noonan_syndrome_4|Arrhythmogenic_right_ventricular_cardiomyopathy|RASopathy|Noonan_syndrome_and_Noonan-related_syndrome|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733,Orphanet:648|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:CN230736|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.45	T	0.066	B	0.065	B	0.000	D	1.000	D	0.315	N	0.84	T	-1.067	T	0.069	T	0.352	1.599	11.30	5.82	2.739	5.483	20.088	0.091	.	0.0072	0.00319489	0.0079	0.0020	0.0026	0	0.0116	0.0122	0.0045	0.0009	0.0079624	1231	154602	rs56219475	0.0086	0.0088	0.0088	0.0084	0.0100	0.0085	0.0084	0.0098	0.0098	0.0023	0.0042	0.0039	0	0.0118	0.0024	0.0100	0.0065	0.0008	0.0076	0.0076	0.0076	0.0077	0.0106	0.0073	0.0071	0.0100	0.0097	0.0027	0.0921	0.0047	0.0026	0.0002	0.0133	0.0068	0.0106	0.0062	0.0010	0.306	0.14207	T	0.474	0.12176	T	0.066	0.23586	B	0.065	0.27321	B	0.000000	0.84330	D	0.053759	1	0.81001	D	1.625	0.41611	L	0.84	0.47477	T	-1.72	0.43334	N	0.285	0.35301	-1.0668	0.10131	T	0.069	0.28180	T	10	0.004600644	0.00096	T	.	.	.	0.091	0.26358	.	.	0.321115633427	0.31720	0.7586861281863523	0.75816	0.590709700161	0.54520	0.696015894413	0.66570	T	0.364182	0.72981	T	-0.42967	0.01489	T	-0.379579	0.35771	T	0.0207539444130001	0.00775	T	0.937406	0.77758	D	0.34130466	0.56383	0.5245448	0.72531	0.5632274	0.70689	0.37334678	0.62523	-9.934	0.73516	D	0.24915139853954799	0.33731	0.165	0.38227	B	.;.;.	.;.;.	4.032135	0.59633	24.1	0.79003705997531048	0.12547	0.94036	0.59919	D	AEFBHCI	0.680681	0.64429	D	-0.0255314630927147	0.40703	2.421688	0.212698289030249	0.50550	3.246002	0.99999983189198	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.82	5.82	0.92740	5.443000	0.66330	11.861000	0.98322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.088	0.97802	470	0.78111	Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	971.98	33	chr2	39013966	.	G	A	971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=764;ExcessHet=0.0000;FS=3.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-3.160e-01;SOR=1.135	GT:AD:DP:GQ:PL	0/1:39,38:77:99:986,0,1020	20	0	1	0
chr2	42256546	42256546	A	G	exonic	EML4	.	nonsynonymous SNV	EML4:NM_001145076:exon3:c.A254G:p.N85S	.	.	437	1072	13	0	0	13	0.00602689	.	.	2335478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.93	T	0.998	D	0.993	D	0.000	N	1.000	D	1.765	L	1.09	T	0.813	D	0.899	D	0.046	3.872	19.67	4.52	0.991	6.755	11.697	0.281	0.278312769265	0.0002	.	0.0003	0	0.0008	0	0	8.996e-05	0.0011	0.0010	0.0002393	37	154602	rs151065528	0.0001	0.0001	6.535e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	2.987e-05	0.0007	0	5.041e-05	0	0.0009	3.148e-05	9.937e-05	0.0012	0.0001	0.0001	6.424e-05	0.0001	0.0010	6.507e-05	5.319e-05	0.0004	0.0003	0	0	0.0005	0	0.0002	0	0	2.94e-05	0	0.0010	0.128	0.47320	T	0.081	0.41742	T	0.998	0.73220	D	0.993	0.81110	D	0.000004	0.62929	N	0.134765	0.99653	0.43261	D	2.335	0.66956	M	1.09	0.97606	T	-1.56	0.55983	N	0.635	0.64818	0.813	0.94570	D	0.899	0.96655	D	10	0.1736067	0.32196	T	0.278313	0.90138	D	0.281	0.59861	.	.	0.924304034863	0.92353	0.14367568134189806	0.14290	0.0521985134838	0.05745	0.437377750874	0.30218	T	0.037024	0.24324	T	-0.257796	0.13158	T	-0.193524	0.55259	T	0.103188313279574	0.12704	T	0.885311	0.61048	D	0.14959551	0.34096	0.06579966	0.13387	0.14959551	0.34096	0.06579966	0.13386	-3.12	0.13038	T	.	.	0.079	0.18746	B	.;.;.	.;.;.	4.128916	0.61778	24.4	0.99833580923718113	0.91456	0.97916	0.78101	D	AEFDBI	0.764851	0.70151	D	0.0424981975632923	0.43798	2.665772	0.11627182044584	0.45380	2.802235	0.999942490636605	0.47345	0.75658	0.98901	0	0.658105	0.61773	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.68	4.52	0.54797	6.786000	0.74875	8.045000	0.76331	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9307:0.0:0.0693:0.0	11.697	0.50812	891	0.26808	.;.;.	.	.	.	.	.	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	1252.98	34	chr2	42256546	.	A	G	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e+00;DP=779;ExcessHet=0.0000;FS=1.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-8.430e-01;SOR=0.506	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1267,0,1098	20	0	1	0
chr2	44754083	44754083	C	T	exonic	CAMKMT	.	nonsynonymous SNV	CAMKMT:NM_024766:exon9:c.C727T:p.L243F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.715	M	1.79	T	-0.669	T	0.217	T	0.929	4.072	20.9	5.79	2.733	5.727	20.04	0.448	0.0295755430095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.52e-05	0	0	.	.	0	0	0	2.52e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.061993	1	0.81001	D	3.065	0.87014	M	1.79	0.25509	T	-3.43	0.67359	D	0.941	0.94786	-0.6694	0.61856	T	0.217	0.57915	T	10	0.7681663	0.76869	D	0.029576	0.52060	D	0.448	0.74935	0.689	0.82653	0.642380095825	0.63942	0.8208165738696329	0.82038	0.450256649311	0.44793	0.782760024071	0.79344	T	0.18281	0.60704	T	0.251259	0.78720	D	0.12314	0.78443	D	0.98873633146286	0.79030	D	0.881012	0.60027	D	0.67793345	0.76858	0.6373344	0.78822	0.67793345	0.76859	0.6373344	0.78823	-7.506	0.57653	D	.	.	0.631	0.70832	P	.;.	.;.	4.742518	0.76494	26.5	0.99886345922780329	0.96126	0.94442	0.61179	D	AEFDBCI	0.664788	0.63383	D	0.881619362536468	0.90830	10.58621	0.849409670395134	0.92982	11.75066	0.999999999999926	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.79	5.79	0.91751	5.802000	0.68783	7.718000	0.67175	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.04	0.97580	759	0.50631	.;.	.	.	.	.	.	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	1318.98	36	chr2	44754083	.	C	T	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=869;ExcessHet=0.0000;FS=1.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-1.334e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1333,0,1589	20	0	1	0
chr2	53859877	53859877	C	T	exonic	GPR75-ASB3	.	nonsynonymous SNV	GPR75-ASB3:NM_001164165:exon1:c.G52A:p.G18R,	.	.	.	.	.	.	.	.	.	.	.	2390759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	.	.	1.000	N	0.895	L	-0.33	T	-0.991	T	0.146	T	0.132	2.478	14.25	-0.318	-0.242	0.391	3.155	0.106	0.0534714456466	.	.	0.0010	0	0	0	0	0	0	0.0017	7.76e-05	12	154602	rs764806211	9.709e-05	9.371e-05	5.866e-05	0.0001	0.0016	8.357e-05	7.8e-05	0.0013	0.0012	3.279e-05	2.827e-05	0	0	0	0.0002	1.858e-06	0.0001	0.0016	5.267e-05	5.25e-05	1.287e-05	9.432e-05	0.0014	2.561e-05	1.833e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.478e-05	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999925	0.19486	N	.	.	.	.	.	.	.	.	.	0.321	0.36148	-0.9905	0.32475	T	0.146	0.47003	T	9	0.018829107	0.00413	T	0.053471	0.65483	D	0.106	0.30130	0.279	0.23323	0.165133752707	0.16062	0.4496931854834678	0.44887	0.0613474215631	0.06837	0.711015045643	0.68740	T	.	.	.	-0.408453	0.02035	T	-0.400024	0.33382	T	0.130503325364006	0.15428	T	0.427957	0.11563	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055505	0.26134	17.01	0.99656551114762193	0.77631	0.04177	0.09676	N	AEFDBHCI	0.046954	0.07855	N	-0.97147553691601	0.09217	0.4353011	-1.02720601437644	0.09188	0.4557829	0.99999817199626	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.239995	0.05000	1	0.651492	0.60203	0	.	.	2.76	-0.318	0.12098	0.250000	0.18007	1.599000	0.27573	0.460000	0.21577	0.000000	0.06391	0.924000	0.28388	0.873000	0.41610	0.0:0.4845:0.228:0.2875	3.155	0.06111	749	0.51929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	309.98	26	chr2	53859877	.	C	T	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.720e-01;DP=654;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.655;SOR=0.859	GT:AD:DP:GQ:PL	0/1:15,14:29:99:324,0,379	20	0	1	0
chr2	54360372	54360376	AACAA	-	exonic	C2orf73	.	frameshift deletion	C2orf73:NM_001369403:exon4:c.311_315del:p.Q105Ffs*8	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	.	8.904e-05	0	0.0001	0	0	0.0001	0	0	3.84e-05	1	26028	rs778682750	4.253e-05	4.309e-05	4.092e-05	4.417e-05	0.0002	3.386e-05	3.073e-05	3.176e-05	2.84e-05	0	9.048e-05	0	0	0	0.0002	4.144e-05	0.0001	4.707e-05	3.944e-05	3.941e-05	5.141e-05	2.691e-05	8.821e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.821e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2050.94	77	chr2	54360371	.	CAACAA	C	2050.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=876;ExcessHet=0.0000;FS=4.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=1.07;SOR=1.124	GT:AD:DP:GQ:PL	0/1:79,55:134:99:2065,0,3149	20	0	1	0
chr2	55026751	55026751	T	G	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.A730C:p.T244P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.963	D	0.000	D	1.000	D	2.095	M	2.28	T	-0.634	T	0.157	T	0.654	3.029	16.11	3.53	1.084	1.919	11.169	0.129	0.0396443932872	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201992311	2.737e-06	2.736e-06	2.723e-06	2.75e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	1.314e-05	1.313e-05	0	2.69e-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	0.0	0.91255	D	0.005	0.76473	D	1.0	0.90584	D	0.963	0.70837	D	0.000214	0.47681	D	0.092272	0.730261	0.81001	D	2.215	0.62545	M	1.62	0.28189	T	-1.51	0.42575	N	0.575	0.60410	-0.6338	0.63409	T	0.157	0.49010	T	10	0.41247427	0.56319	T	0.039644	0.58928	D	0.129	0.35316	0.205	0.12076	0.441636318388	0.43783	0.2748800246821005	0.27401	0.205290401865	0.22950	0.383745104074	0.22787	T	0.31629	0.68784	T	0.0128837	0.53419	T	-0.203784	0.54287	T	0.884440898895264	0.53467	D	0.722728	0.34608	T	0.48171145	0.66004	0.6048652	0.77033	0.48171145	0.66005	0.6048652	0.77033	-3.827	0.23083	T	.	.	0.150	0.39511	B	.;.;.;.;.	.;.;.;.;.	3.672981	0.52235	23.2	0.99345063772316666	0.60331	0.90571	0.51857	D	AEFGBI	0.388747	0.46823	N	0.499122081940087	0.67038	5.028759	0.459933874160339	0.65358	4.813634	0.999976634089002	0.50053	0.722319	0.85440	0	0.596877	0.49441	0	0.698795	0.65105	0	0.662433	0.64102	0	.	.	6.06	3.53	0.39533	1.918000	0.39636	2.844000	0.35098	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.3582:0.0:0.0:0.6418	11.169	0.47787	625	0.65529	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	2651.98	34	chr2	55026751	.	T	G	2651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e-01;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=1.39;SOR=0.726	GT:AD:DP:GQ:PL	0/1:71,99:170:99:2666,0,1955	20	0	1	0
chr2	55877811	55877811	G	A	exonic	EFEMP1	.	nonsynonymous SNV	EFEMP1:NM_001039349:exon6:c.C695T:p.P232L	Doyne honeycomb degeneration of retina, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.524	P	0.095	B	0.000	D	1.000	D	1.02	L	-2.88	D	-0.072	T	0.544	D	0.644	3.212	16.76	5.65	2.672	4.587	12.995	0.526	0.0496753502423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.729	0.05184	T	0.524	0.37583	P	0.095	0.30245	B	0.000006	0.62929	D	0.000000	0.99999	0.81001	D	1.17	0.29769	L	-2.88	0.91533	D	-5.56	0.86296	D	0.589	0.64393	-0.0718	0.80739	T	0.544	0.83213	D	10	0.6481999	0.69449	D	0.049675	0.63915	D	0.526	0.79947	0.496	0.58520	0.701217672417	0.69863	0.7516994351644962	0.75116	0.546823444238	0.51664	0.717525720596	0.69686	T	0.776201	0.94051	D	0.187434	0.72727	D	0.0314593	0.72373	D	0.911452233791351	0.56703	D	0.89791	0.64303	D	0.289173	0.51915	0.34439006	0.60137	0.289173	0.51915	0.34439006	0.60136	-5.638	0.43138	T	0.21893495882625666	0.29492	0.248	0.48293	B	.;.	.;.	3.874304	0.56268	23.7	0.99782225550073345	0.86867	0.88751	0.48829	D	AEFBCI	0.578180	0.57949	D	0.0758693628920826	0.45338	2.792073	0.24512478889551	0.52371	3.412502	0.999999963558598	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.65	5.65	0.86881	3.993000	0.56699	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0735:0.0:0.9265:0.0	12.995	0.58046	335	0.86220	EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	946.98	34	chr2	55877811	.	G	A	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=783;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-1.151e+00;SOR=0.817	GT:AD:DP:GQ:PL	0/1:61,37:98:99:961,0,1506	20	0	1	0
chr2	69400398	69400398	T	C	exonic	NFU1	.	nonsynonymous SNV	NFU1:NM_001002756:exon6:c.A263G:p.Q88R	Multiple mitochondrial dysfunctions syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.653	P	0.618	P	0.000	D	1.000	D	0.055	N	-0.93	T	-0.716	T	0.259	T	0.901	2.081	12.91	5.23	2.193	7.330	14.469	0.609	0.0468569465346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.12187	T	0.423	0.13993	T	0.536	0.40782	P	0.306	0.51338	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.615	0.15706	N	-0.93	0.75215	T	-3.66	0.70191	D	0.88	0.89020	-0.7164	0.59639	T	0.259	0.62944	T	10	0.67026824	0.70670	D	0.046857	0.62653	D	0.609	0.84666	0.497	0.58678	0.776129731606	0.77406	0.741210768078621	0.74067	0.557939449143	0.52393	0.771020829678	0.77577	T	0.437074	0.82967	T	0.322309	0.84636	D	0.225198	0.84436	D	0.941701471805573	0.61521	D	0.965003	0.92791	D	0.5963247	0.72493	0.5524598	0.74120	0.5963247	0.72494	0.5524598	0.74120	-12.744	0.88281	D	0.3486875914469986	0.44604	0.414	0.61602	A	.;.;.;.;.;.	.;.;.;.;.;.	4.420189	0.68456	25.2	0.97560847122864081	0.34620	0.98256	0.80988	D	AEFBI	0.885692	0.81643	D	0.0721640306074643	0.45168	2.777857	0.234946677686328	0.51796	3.359232	0.999994450267249	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	7.480000	0.80148	7.783000	0.68714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.469	0.67080	768	0.49510	NIF system FeS cluster assembly, NifU, C-terminal|NIF system FeS cluster assembly, NifU, C-terminal;.;.;.;NIF system FeS cluster assembly, NifU, C-terminal|NIF system FeS cluster assembly, NifU, C-terminal;NIF system FeS cluster assembly, NifU, C-terminal|NIF system FeS cluster assembly, NifU, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1131.98	34	chr2	69400398	.	T	C	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.468e+00;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.66;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1146,0,874	20	0	1	0
chr2	70921196	70921196	C	T	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C346T:p.R116C,	.	.	12	1507	2	1	0	4	0.00132538	.	.	2684500	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.882	P	0.523	P	0.000	D	1.000	D	2.43	M	-3.97	D	0.988	D	0.889	D	0.919	4.559	24.7	5.43	2.547	2.107	16.752	0.860	0.216486708072	0.0002	.	0.0002	0	8.664e-05	0	0	0.0002	0.0011	0.0003	0.0001488	23	154602	rs145436494	7.938e-05	7.935e-05	6.808e-05	9.078e-05	0.0010	6.736e-05	6.269e-05	0.0005	0.0003	2.988e-05	0	3.827e-05	0	1.88e-05	0.0010	6.745e-05	9.936e-05	0.0003	9.849e-05	9.842e-05	6.424e-05	0.0001	0.0010	6.003e-05	4.877e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0.0005	0.0010	0.006	0.61437	D	0.001	0.83351	D	0.882	0.48483	P	0.523	0.48316	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.035	0.55589	M	-3.97	0.96243	D	-6.0	0.89534	D	0.74	0.74007	0.988	0.96986	D	0.889	0.96322	D	10	0.8256893	0.81750	D	0.216487	0.87561	D	0.860	0.95728	.	.	0.999369179717	0.99936	0.4922512179309445	0.49146	0.308498618732	0.33160	0.528531312943	0.42827	T	0.797918	0.94816	D	0.250576	0.78655	D	0.422483	0.92825	D	0.264684487197718	0.23519	T	0.972503	0.90119	D	0.4977564	0.66963	0.4811754	0.69956	0.4977564	0.66964	0.4811754	0.69956	-11.307	0.81315	D	.	.	0.417	0.60485	A	.	.	5.450569	0.91046	32	0.99940738883005076	0.99797	0.90396	0.51538	D	AEFBI	0.592704	0.58831	D	0.541239083240704	0.69549	5.372938	0.555228828628594	0.71763	5.704477	0.999999113373154	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	2.153000	0.41907	3.931000	0.40536	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.752	0.85349	724	0.55085	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2353.98	42	chr2	70921196	.	C	T	2353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=1075;ExcessHet=0.0000;FS=6.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-1.000e-02;SOR=1.194	GT:AD:DP:GQ:PL	0/1:97,88:185:99:2368,0,2430	20	0	1	0
chr2	71682612	71682612	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon53:c.A6097G:p.I2033V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	100253	Miyoshi_myopathy|Qualitative_or_quantitative_defects_of_dysferlin|not_provided|Limb-girdle_muscular_dystrophy,_recessive|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1	MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.861	P	0.719	P	0.000	D	0.968	D	1.5	L	-1.96	D	-0.004	T	0.552	D	0.279	3.331	17.21	3.86	2.034	1.614	9.250	0.287	0.0376093905226	0.0002	0.000998403	0.0004	0.0002	0.0008	0	0	0.0002	0	0.0013	0.0003687	57	154602	rs150834671	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0011	0.0010	5.974e-05	0.0005	0	0	0	0.0019	0.0004	0.0003	0.0013	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	9.641e-05	0	0.0005	0	0	0	0	0.0003	0	0.0010	0.009	0.58626	D	0.09	0.42436	T	0.861	0.47410	P	0.672	0.54822	P	0.000130	0.49741	D	0.200820	0.945508	0.38651	D	2.37	0.68279	M	-1.97	0.85173	D	-0.73	0.20576	N	0.313	0.36043	-0.0037	0.82179	T	0.552	0.83611	D	10	0.0332371	0.01495	T	0.037609	0.57720	D	0.287	0.60574	.	.	0.682595736848	0.67989	0.5128477279156468	0.51206	0.125644526005	0.14166	0.451496750116	0.32149	T	0.618363	0.88002	D	-0.271249	0.11618	T	-0.207958	0.53891	T	0.0358344118829158	0.02951	T	0.881912	0.60169	D	0.11803938	0.27819	0.16269685	0.37779	0.11803938	0.27818	0.16269685	0.37778	-6.71	0.51886	T	0.2355381310636637	0.31893	0.085	0.09965	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.201725	0.43545	21.8	0.99855697884841543	0.93458	0.94693	0.62006	D	AEFDBI	0.641005	0.61849	D	0.188791092334703	0.50661	3.254016	0.243024779817554	0.52254	3.401438	0.999102726669899	0.38452	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.1	3.86	0.43689	1.672000	0.37139	.	.	0.756000	0.94297	0.982000	0.35529	1.000000	0.68203	0.998000	0.85391	0.8383:0.0:0.0:0.1617	9.250	0.36707	643	0.63827	.;.;.;.;Ferlin, 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	2370.98	34	chr2	71682612	.	A	G	2370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.286;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=1.02;SOR=0.692	GT:AD:DP:GQ:PL	0/1:136,106:242:99:2385,0,3315	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	1/2:1,24,17,0,0,0:42:99:1433,673,609,804,0,1064,1480,690,981,1624,1480,690,981,1624,1624,1480,690,981,1624,1624,1624	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	1/2:1,24,17,0,0,0:42:99:1433,673,609,804,0,1064,1480,690,981,1624,1480,690,981,1624,1624,1480,690,981,1624,1624,1624	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	1/2:1,24,17,0,0,0:42:99:1433,673,609,804,0,1064,1480,690,981,1624,1480,690,981,1624,1624,1480,690,981,1624,1624,1624	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	1/2:1,24,17,0,0,0:42:99:1433,673,609,804,0,1064,1480,690,981,1624,1480,690,981,1624,1624,1480,690,981,1624,1624,1624	0	4	5	0
chr2	73490468	73490468	C	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon10:c.C8509G:p.Q2837E	Alstrom syndrome, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.525	P	0.217	B	0.095	N	1.000	D	1.04	L	3.29	T	-0.988	T	0.017	T	0.233	1.911	12.35	3.99	2.524	1.509	11.883	0.035	0.00165036418903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.12072	T	.	.	.	.	.	.	0.095064	0.20141	N	0.361838	0.933477	0.26995	N	.	.	.	.	.	.	.	.	.	0.234	0.26475	-0.9882	0.33052	T	0.017	0.06807	T	10	0.16013137	0.30069	T	0.00165	0.02702	T	.	.	.	.	0.584426982296	0.58115	0.030332108050951614	0.02982	.	.	0.282681643963	0.07870	T	0.024784	0.18662	T	-0.122685	0.32686	T	-0.414005	0.31766	T	0.313250005245209	0.25547	T	0.774523	0.40643	T	0.08393714	0.19406	0.17314474	0.39620	0.08393714	0.19406	0.17314474	0.39619	-3.406	0.15137	T	0.4286481796402601	0.51616	0.086	0.10739	B	.;.;.	.;.;.	2.245581	0.28682	17.88	0.98186940629427599	0.39001	0.72861	0.35650	D	AEFDBI	0.123592	0.23926	N	0.0365169477493652	0.43524	2.643564	0.103521759856499	0.44729	2.748992	0.0253325574116746	0.13642	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.99	3.99	0.45527	1.775000	0.38213	1.185000	0.24724	0.599000	0.40250	0.966000	0.33990	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	11.883	0.51869	662	0.61715	.;.;.	.	.	.	.	.	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	2530.98	34	chr2	73490468	.	C	G	2530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.064;DP=1636;ExcessHet=0.0000;FS=1.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-1.272e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2545,0,2419	20	0	1	0
chr2	84619759	84619759	A	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon24:c.A3647T:p.H1216L,	.	.	434	1066	22	0	0	22	0.0102136	.	.	3221642	DNAH6-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	.	.	1.000	D	2.84	M	-0.32	T	0.166	D	0.518	D	0.91	4.655	25.6	5.0	1.885	8.904	13.717	0.726	0.287306943384	0.0002	0.000599042	0.0027	0	0	0	0	0.0010	0	0.0064	0.000414	64	154602	rs367551290	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	0	0.0002	0.0036	0	2.025e-05	0.0021	8.064e-05	0.0006	0.0059	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0	0.0032	0	0	0	8.82e-05	0.0005	0.0039	0.002	0.72154	D	.	.	.	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999906	0.50806	D	3.86	0.95841	H	-0.32	0.68181	T	-9.94	0.98767	D	0.754	0.75559	0.166	0.85333	D	0.518	0.81990	D	9	0.036367	0.01932	T	0.287307	0.90442	D	0.726	0.90369	.	.	0.777960513408	0.77591	0.865096577779505	0.86474	0.501682463928	0.48545	0.623549222946	0.56230	T	0.509166	0.82612	D	0.0423664	0.57355	T	0.290553	0.87709	D	0.288859407349234	0.24542	T	0.954105	0.82551	D	0.6581019	0.75797	0.7632945	0.86016	0.6581019	0.75798	0.7632945	0.86017	-15.236	0.96382	D	.	.	0.919	0.84161	P	.;.	.;.	4.329581	0.66332	24.9	0.97849179643389239	0.36385	0.98760	0.86500	D	AEFI	0.911771	0.87149	D	0.832401136101166	0.88086	9.447688	0.769030768999676	0.87573	9.268184	0.985059572233249	0.30820	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	9.212000	0.94233	11.148000	0.87267	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.717	0.62186	705	0.57330	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2046.98	40	chr2	84619759	.	A	T	2046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.181e+00;SOR=0.643	GT:AD:DP:GQ:PL	0/1:65,80:145:99:2061,0,1494	20	0	1	0
chr2	94871904	94871904	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_144705:exon1:c.A325G:p.M109V,	.	.	423	1067	31	1	0	33	0.0152284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.006	N	1.000	N	-1.265	N	4.4	T	-0.937	T	0.002	T	0.121	-1.615	0.013	-1.91	-0.992	1.618	4.088	0.064	0.00122875723365	.	.	0.0001	0.0005	0	0	0	0.0001	0	0	0.0007568	117	154602	rs77824556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.301	0.20293	T	0.0	0.02946	B	0.0	0.01387	B	0.006010	0.32339	N	0.291643	1	0.08975	N	-1.705	0.00347	N	4.4	0.02215	T	1.17	0.01121	N	0.045	0.01740	-0.9369	0.43103	T	0.002	0.00707	T	10	0.02163878	0.00522	T	0.001229	0.01633	T	0.064	0.18567	.	.	0.107399877778	0.10242	0.11023828764567724	0.10952	0.0293419903988	0.03019	0.716191112995	0.69491	T	0.02647	0.19579	T	-0.332775	0.05903	T	-0.715784	0.05001	T	0.0280548110973322	0.01696	T	0.232777	0.03161	T	0.06496922	0.13836	0.09327323	0.22022	0.06496922	0.13836	0.09327323	0.22021	-2.804	0.08221	T	.	.	0.059	0.00793	B	.	.	0.636446	0.10050	6.799	0.4154982300263122	0.03005	0.05116	0.10920	N	AEFDGBHI	0.024169	0.01454	N	-1.39660453890581	0.02670	0.1182283	-1.38285152646484	0.03434	0.1601971	0.955553942976374	0.28196	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.84	-1.91	0.07225	1.406000	0.34254	2.690000	0.34081	-0.324000	0.05829	0.075000	0.22209	0.999000	0.35428	0.024000	0.12247	0.5824:0.2018:0.2158:0.0	4.088	0.09432	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	345.68	49	chr2	94871904	.	A	G	345.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.573e+00;DP=1031;ExcessHet=0.3300;FS=1.528;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.92;MQRankSum=-7.507e+00;QD=1.08;ReadPosRankSum=-1.448e+00;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,8:98:65:0|1:94871888_G_A:65,0,3751:94871888	18	0	3	0
chr2	94874110	94874110	T	G	splicing	TEKT4	NM_001286559:exon3:c.167+2T>G;NM_144705:exon3:c.713+2T>G	.	.	.	.	406	1070	44	2	0	48	0.0219378	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.317	13.70	2.24	0.779	4.740	8.014	.	.	.	.	0.0040	0.0040	0.0018	0.0039	0.0052	0.0040	0.0082	0.0048	0.0004995	13	26028	rs201662522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0210978	0.54528	T	-0.207471	0.53936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.728960	0.53327	23.3	0.92961029893543212	0.22537	0.79885	0.39676	D	AEFDGBCI	.	.	.	0.522301970175972	0.68412	5.213453	0.198859362804565	0.49784	3.177611	0.997889277469928	0.36150	0.055872	0.00684	0	0.068659	0.01829	0	0.067067	0.01885	0	0.078985	0.02075	0	0.724399	0.43579	2.24	2.24	0.27264	2.478000	0.44848	6.975000	0.57104	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:0.0:0.0:1.0	8.014	0.29532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	415.2	33	chr2	94874110	.	T	G	415.2	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.707e+00;DP=893;ExcessHet=1.7912;FS=3.157;InbreedingCoeff=-0.1724;MLEAC=6;MLEAF=0.143;MQ=58.57;MQRankSum=-7.504e+00;QD=1.07;ReadPosRankSum=2.48;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,4:50:30:0|1:94874110_T_G:30,0,1770:94874110	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|1:214,37:251:99:0|1:94876587_C_A:910,0,8839:94876587	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|1:266,85:351:99:0|1:94876587_C_A:2768,0,10913:94876587	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|1:283,100:383:99:0|1:94876587_C_A:3347,0,11555:94876587	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|1:307,125:432:99:0|1:94876671_A_G:4325,0,12393:94876671	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|1:308,125:433:99:0|1:94876671_A_G:4322,0,12426:94876671	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	0/1:295,87:382:99:.:.:1753,0,7715	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,31:392:99:0|1:94876737_C_A:215,0,14919:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,31:388:99:0|1:94876737_C_A:227,0,14810:94876737	9	0	12	0
chr2	95181919	95181919	C	G	exonic	ZNF2	.	nonsynonymous SNV	ZNF2:NM_001291604:exon3:c.C851G:p.T284S	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.044	B	0.045	B	0.007	N	0.805	N	0.315	N	1.87	T	-1.022	T	0.056	T	0.447	1.912	12.35	3.04	1.305	3.191	13.253	0.111	0.00344913426551	.	0.000599042	0.0001	0	0	0	0	0	0	0.0010	0.0001294	20	154602	rs545220328	5.267e-05	5.267e-05	1.77e-05	8.8e-05	0.0009	4.277e-05	3.952e-05	0.0007	0.0007	0	0	0	0	0	0	0	3.311e-05	0.0009	4.593e-05	4.593e-05	0	9.393e-05	0.0014	2.107e-05	1.525e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	0.105	0.45110	T	.	.	.	.	.	.	0.006535	0.31969	N	0.146384	0.883611	0.29074	N	.	.	.	.	.	.	.	.	.	0.118	0.25253	-1.0225	0.22899	T	0.056	0.23753	T	10	0.017885089	0.00385	T	0.003449	0.07786	T	.	.	.	.	0.349429436713	0.34558	0.059002024700113	0.05841	.	.	0.76438498497	0.76583	T	0.107858	0.51839	T	-0.376758	0.03265	T	-0.359515	0.38109	T	0.028833272773638	0.01812	T	0.159184	0.02165	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.38318	B	.;.;.;.;.	.;.;.;.;.	3.165179	0.42900	21.6	0.91712202396789455	0.21007	0.93044	0.57185	D	AEFBCI	0.384697	0.46572	N	-0.450631467582182	0.23718	1.275669	-0.275226394912408	0.28917	1.616043	0.0122407930556378	0.12298	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.94	3.04	0.34171	0.815000	0.26910	1.475000	0.26781	-0.214000	0.08267	0.360000	0.25842	0.831000	0.27213	0.987000	0.62547	0.0:0.6783:0.3217:0.0	13.253	0.59492	.	.	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	1626.98	33	chr2	95181919	.	C	G	1626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.790e-01;DP=829;ExcessHet=0.0000;FS=2.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-2.000e-01;SOR=0.966	GT:AD:DP:GQ:PL	0/1:62,64:126:99:1641,0,1657	20	0	1	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	0/1:202,79:281:99:.:.:1651,0,5525	0	0	21	0
chr2	95855532	95855532	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5827C:p.I1943L,	.	.	432	980	109	1	0	111	0.0535973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0	N	2.54	T	-0.967	T	0.013	T	0.077	-0.366	2.274	-2.62	-0.584	-0.671	0.732	0.005	.	.	.	0.0326	0.0706	0.0182	0.0090	0.0231	0.0311	0.0376	0.0445	7.68e-05	2	26028	rs112858216	6.854e-07	6.156e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.89	0.24026	N	0.187	0.20395	-0.9674	0.37733	T	0.013	0.04843	T	7	0.0037541986	0.00070	T	.	.	.	0.005	0.00259	0.247	0.18293	.	.	0.029755129249007927	0.02924	.	.	.	.	.	0.001717	0.01139	T	-0.373008	0.03445	T	-0.773577	0.02653	T	0.00218303418063386	0.00023	T	0.340666	0.07366	T	0.044085097	0.06984	0.046755914	0.06587	0.044085097	0.06984	0.046755914	0.06587	-3.964	0.23263	T	.	.	0.161	0.35498	B	.	.	-0.079786	0.03764	0.785	0.7016925376513895	0.09208	0.01678	0.05360	N	AEFI	0.043258	0.06816	N	-1.01735734093612	0.08243	0.3858304	-1.18373099282675	0.06180	0.2967244	2.11620199757736E-5	0.03498	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-2.62	0.05793	-0.723000	0.05056	-11.676000	0.00585	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1943:0.1355:0.1985:0.4718	0.732	0.00897	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	192.98	387	chr2	95855532	.	T	G	192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.502e+00;DP=7346;ExcessHet=0.0000;FS=7.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.13;MQRankSum=-5.089e+00;QD=0.48;ReadPosRankSum=1.53;SOR=1.259	GT:AD:DP:GQ:PL	0/1:359,41:400:99:207,0,9880	20	0	1	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	0/1:217,158:375:99:3688,0,6273	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	0/1:233,100:333:99:.:.:2596,0,6900	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	0/1:289,34:323:99:231,0,11391	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	0/1:240,81:321:99:.:.:2030,0,6951	0	0	21	0
chr2	95859919	95859922	TTTC	-	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.4933_4936del:p.E1645*,	.	.	883	625	11	3	0	17	0.0134175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs768643439	2.009e-05	0.0015	1.84e-05	2.183e-05	6.369e-05	1.393e-05	1.199e-05	2.459e-05	1.549e-05	6.369e-05	2.828e-05	0	2.817e-05	0.0003	0	2.786e-06	3.457e-05	6.362e-05	6.589e-06	0.0009	1.289e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	233.09	99	chr2	95859918	.	ATTTC	A	233.09	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.380e-01;DP=2433;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0506;MLEAC=2;MLEAF=0.048;MQ=58.71;MQRankSum=-3.553e+00;QD=0.86;ReadPosRankSum=1.50;SOR=0.681	GT:AD:DP:GQ:PL	0/1:131,11:142:61:61,0,5412	19	0	2	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|1:120,40:160:99:0|1:95859969_A_AT:1298,0,4878:95859969	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|1:121,40:161:99:0|1:95859969_A_AT:1295,0,4912:95859969	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|1:121,39:160:99:0|1:95859969_A_AT:1273,0,4915:95859969	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	0/1:126,39:165:99:1240,0,3268	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	0/1:125,33:158:99:.:.:429,0,5087	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	0/1:124,34:158:99:.:.:1054,0,5059	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|1:112,29:141:99:0|1:95860020_G_A:881,0,4566:95860020	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|1:110,27:137:99:0|1:95860020_G_A:803,0,4517:95860020	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	0/1:88,21:109:99:611,0,2496	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|1:163,29:192:99:0|1:95927222_G_GAT:727,0,6757:95927222	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|1:175,39:214:99:0|1:95927222_G_GAT:1111,0,7231:95927222	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|1:182,49:231:99:0|1:95927222_G_GAT:1510,0,7495:95927222	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|1:196,90:286:99:0|1:95927222_G_GAT:3189,0,7959:95927222	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|1:210,123:333:99:0|1:95927222_G_GAT:4512,0,8427:95927222	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|1:217,128:345:99:0|1:95927222_G_GAT:4600,0,8550:95927222	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|1:151,98:249:99:0|1:95929092_T_C:3516,0,5977:95929092	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|1:175,103:278:99:0|1:95929092_T_C:3798,0,7038:95929092	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|1:193,126:319:99:0|1:95929092_T_C:4710,0,7725:95929092	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|1:198,132:330:99:0|1:95929092_T_C:4947,0,7917:95929092	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|1:197,137:334:99:0|1:95929092_T_C:5140,0,7839:95929092	1	0	20	0
chr2	96839755	96839755	T	C	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon8:c.A794G:p.Y265C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.003	N	1.000	D	1.91	M	-0.16	T	-0.388	T	0.358	T	0.633	3.396	17.46	3.88	0.927	2.601	8.975	0.420	0.0663925972002	.	.	8.774e-06	0	0	0	0	1.593e-05	0	0	6.5e-06	1	154602	rs759673941	2.19e-05	2.257e-05	2.724e-05	1.651e-05	2.518e-05	1.585e-05	1.356e-05	1.746e-05	1.503e-05	0	0	0.0001	0	0	0	2.518e-05	1.656e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.54e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.54e-05	0.0003	0	0	0	0	0	0	0.002	0.72154	D	0.054	0.58089	T	1.0	0.90584	D	0.996	0.84481	D	0.002907	0.35737	N	0.000000	0.958756	0.38091	D	1.95	0.52479	M	-0.16	0.65378	T	-5.91	0.90450	D	0.412	0.57263	-0.3875	0.72420	T	0.358	0.72022	T	10	0.46621186	0.59585	T	0.066393	0.69862	D	0.420	0.72930	0.6	0.73105	0.806157150381	0.80434	0.3354648369992883	0.33459	0.206881179675	0.23125	0.429213643074	0.29101	T	0.119126	0.44044	T	0.0515023	0.58536	T	-0.163797	0.58008	T	0.931529760360718	0.59695	D	0.320668	0.29365	T	0.41761893	0.61933	0.40845516	0.65162	0.41761893	0.61934	0.40845516	0.65162	-4.212	0.26925	T	.	.	0.252	0.54049	B	.;.;.	.;.;.	3.552761	0.49947	22.9	0.99698997564515279	0.80453	0.66088	0.32957	D	AEFDGBHCI	0.301841	0.41025	N	0.353323658687644	0.58914	4.066828	0.274569837241191	0.54059	3.572075	0.99999999679824	0.74766	0.50284	0.20314	0	0.623108	0.53289	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	5.05	3.88	0.43959	2.087000	0.41277	4.049000	0.41491	0.665000	0.62972	0.985000	0.35982	1.000000	0.68203	0.628000	0.32104	0.0:0.0:0.1865:0.8135	8.975	0.35092	122	0.95130	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	34	chr2	96839755	.	T	C	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-7.330e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1235,0,1037	20	0	1	0
chr2	97091553	97091553	C	T	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G154A:p.V52I	.	.	422	1063	35	2	0	39	0.0180139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.006	B	0.000	D	0.947	N	0.905	L	1.45	T	-0.984	T	0.017	T	0.116	-0.237	2.855	-1.41	-0.358	1.425	6.207	0.068	0.00173163364902	.	.	0.0042	0.0010	0.0058	0	0.0014	0.0058	0.0033	0.0019	0.000414	64	154602	rs201241480	0.0053	0.0062	0.0055	0.0051	0.0166	0.0052	0.0051	0.0139	0.0129	0.0015	0.0042	0.0102	2.519e-05	0.0015	0.0166	0.0059	0.0061	0.0014	0.0048	0.0049	0.0051	0.0046	0.0078	0.0045	0.0044	0.0067	0.0062	0.0013	0	0.0078	0.0121	0	0.0025	0.0374	0.0067	0.0072	0.0021	0.949	0.02151	T	0.918	0.02891	T	0.004	0.12183	B	0.006	0.12133	B	0.000023	0.55875	D	0.069098	0.94745	0.26600	N	1.745	0.45235	L	1.45	0.32482	T	0.21	0.04776	N	0.2	0.22098	-0.9844	0.33975	T	0.017	0.07140	T	10	0.00686273	0.00156	T	0.001732	0.02908	T	0.068	0.19811	.	.	0.115124310173	0.11017	0.19258797205350334	0.19176	1.16890855372	0.79700	0.578303396702	0.49846	T	0.003811	0.03222	T	-0.270776	0.11670	T	-0.626728	0.10663	T	0.000679144243674442	0.00006	T	0.59684	0.22194	T	0.01966555	0.00501	0.034362644	0.02489	0.01966555	0.00501	0.034362644	0.02489	-3.404	0.15110	T	.	.	0.076	0.06069	B	.;.	.;.	-0.358622	0.02371	0.260	0.2118341943439164	0.00796	0.15989	0.19178	N	AEFI	0.073248	0.14644	N	-1.10502397537055	0.06553	0.301989	-1.13329804189448	0.07071	0.3426243	4.67086552133833E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.707	-1.41	0.08473	1.171000	0.31505	-0.204000	0.10916	-1.152000	0.01424	0.795000	0.29657	0.000000	0.08366	0.190000	0.21601	0.0:0.6841:0.3159:0.0	6.207	0.19821	212	0.91760	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1960.98	44	chr2	97091553	.	C	T	1960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1089;ExcessHet=0.0000;FS=4.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.12;MQRankSum=-6.071e+00;QD=11.81;ReadPosRankSum=-1.345e+00;SOR=1.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,55:166:99:0|1:97091553_C_T:1975,0,4380:97091553	20	0	1	0
chr2	97091559	97091559	C	T	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G148A:p.G50R	.	.	423	1063	34	2	0	38	0.0175601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.025	B	0.013	B	0.063	N	0.693	N	2.07	M	1.51	T	-1.076	T	0.032	T	0.245	1.068	9.361	-0.396	-0.190	2.235	4.755	0.053	0.00185952859811	.	.	0.0042	0.0010	0.0060	0	0.0014	0.0058	0.0033	0.0019	0.000401	62	154602	rs201521399	0.0052	0.0062	0.0053	0.0050	0.0166	0.0051	0.0050	0.0139	0.0129	0.0015	0.0043	0.0104	2.519e-05	0.0016	0.0166	0.0057	0.0058	0.0013	0.0048	0.0049	0.0050	0.0046	0.0077	0.0045	0.0044	0.0065	0.0061	0.0014	0	0.0077	0.0121	0	0.0026	0.0374	0.0066	0.0076	0.0021	0.108	0.29420	T	0.083	0.41405	T	0.025	0.19245	B	0.013	0.16460	B	0.062582	0.22087	N	0.466822	0.692741	0.30176	N	2.465	0.71551	M	1.51	0.30937	T	-3.74	0.71042	D	0.307	0.34659	-1.0756	0.08225	T	0.032	0.13811	T	10	0.006063968	0.00136	T	0.00186	0.03245	T	0.053	0.14996	0.536	0.64585	0.242244723065	0.23846	0.4310816599483757	0.43025	1.64272014905	0.89387	0.510626316071	0.40310	T	0.118203	0.43885	T	-0.182537	0.23358	T	-0.499978	0.22349	T	0.0192758174834097	0.00633	T	0.677032	0.28590	T	0.11903311	0.28036	0.12738456	0.30665	0.11903311	0.28035	0.12738456	0.30664	-3.809	0.20939	T	.	.	0.093	0.16054	B	.;.	.;.	1.691139	0.21548	15.25	0.7587086688925444	0.11243	0.08906	0.14763	N	AEFI	0.076863	0.15473	N	-0.714474486073387	0.15613	0.7884411	-0.804707894553468	0.14382	0.75116	1.70633620179861E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.707	-0.396	0.11808	1.903000	0.39488	-0.078000	0.12213	0.181000	0.17804	0.312000	0.25432	0.000000	0.08366	0.384000	0.26424	0.0:0.7212:0.0:0.2788	4.755	0.12452	212	0.91760	.;.	.	.	.	.	.	Likely benign	0	0	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	2045.98	44	chr2	97091559	.	C	T	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.83;DP=1087;ExcessHet=0.0000;FS=6.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.89;MQRankSum=-5.428e+00;QD=12.40;ReadPosRankSum=-2.029e+00;SOR=1.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,57:165:99:0|1:97091553_C_T:2060,0,4299:97091553	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|1:143,15:158:99:0|1:97185336_GC_G:200,0,5951:97185336	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|1:146,15:161:99:0|1:97185336_GC_G:190,0,6077:97185336	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|1:147,15:162:99:0|1:97185336_GC_G:187,0,6119:97185336	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|1:147,16:163:99:0|1:97185336_GC_G:229,0,6124:97185336	3	0	18	0
chr2	97243939	97243939	T	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon70:c.T4401G:p.Y1467X,	.	.	588	881	52	1	0	54	0.0297357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	8.385	40	0.182	0.043	-0.165	4.602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs5011471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.121	0.11197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355057	0.86869	D	0.272239	0.86698	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	3.673795	0.52256	23.2	0.98497672860431029	0.42180	0.01706	0.05419	N	AEFI	0.051815	0.09190	N	-0.269925102452034	0.30314	1.689198	-0.691756682915692	0.17165	0.9115637	1.16328131819112E-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	0.182	0.14361	-0.369000	0.07588	-3.115000	0.03049	0.340000	0.19754	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.0:0.2029:0.0:0.7971	4.602	0.11751	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	0	0	0	0	0.025	62.34	35	chr2	97243939	.	T	G	62.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.88;DP=990;ExcessHet=0.0000;FS=55.286;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=39.59;MQRankSum=-3.075e+00;QD=0.34;ReadPosRankSum=-2.155e+00;SOR=6.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,14:184:76:0|1:97243928_G_A:76,0,7035:97243928	19	0	1	1
chr2	97243941	97243941	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4403A:p.R1468K,	.	.	591	875	55	1	0	57	0.031544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.892	P	0.444	B	.	.	1.000	N	0.805	L	2.34	T	-1.017	T	0.027	T	0.074	0.706	7.766	0.467	0.151	-1.124	5.569	0.007	0.00111599007646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436849374	6.883e-07	1.369e-06	0	1.384e-06	9.019e-07	0	0	.	.	0	0	0	0	0	0	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.321	0.19073	T	0.188	0.29318	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.495	0.37439	L	2.34	0.16351	T	-0.84	0.22944	N	0.124	0.11626	-1.0172	0.24625	T	0.027	0.11618	T	9	0.0719215	0.10666	T	0.001116	0.01336	T	0.007	0.00512	.	.	0.0611884634855	0.05136	.	.	.	.	0.696967959404	0.66706	T	0.002586	0.01974	T	-0.358284	0.04228	T	-0.752427	0.03392	T	0.0658219197223839	0.08052	T	0.567243	0.20104	T	0.05432452	0.10408	0.052856594	0.08789	0.05432452	0.10408	0.052856594	0.08789	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	-0.510566	0.01833	0.146	0.79641931180110503	0.12834	0.00665	0.02874	N	AEFI	0.033355	0.03938	N	-1.01331001360076	0.08327	0.3900481	-1.1679063988186	0.06452	0.310638	1.33660293609482E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.467	0.15933	-0.785000	0.04735	-1.647000	0.04992	-0.644000	0.04415	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.2058:0.0:0.7942:0.0	5.569	0.16468	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	0.025	68.34	35	chr2	97243941	.	G	A	68.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.51;DP=991;ExcessHet=0.0000;FS=55.262;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=39.41;MQRankSum=-3.075e+00;QD=0.38;ReadPosRankSum=-1.897e+00;SOR=5.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,14:182:82:0|1:97243928_G_A:82,0,6992:97243928	19	0	1	1
chr2	97243955	97243955	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4417A:p.V1473M,	.	.	590	849	81	2	0	85	0.0476725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.999	D	0.994	D	.	.	1.000	N	0.88	L	2.18	T	-1.030	T	0.064	T	0.062	0.982	9.008	-0.126	-0.032	0.035	5.417	0.057	0.000601302842856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464545187	1.381e-06	1.368e-06	1.373e-06	1.389e-06	6.034e-05	2.3e-07	9e-08	9.99e-06	3.74e-06	6.034e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.072	0.43344	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	2.18	0.18875	T	-0.61	0.18042	N	0.143	0.14338	-1.0301	0.20422	T	0.064	0.26385	T	9	0.118860304	0.22481	T	6.01E-4	0.00274	T	0.057	0.16321	.	.	0.146414634003	0.14194	.	.	.	.	0.764153659344	0.76549	T	0.002011	0.01422	T	-0.348598	0.04816	T	-0.738513	0.03953	T	0.0706987633268221	0.08749	T	0.538946	0.18179	T	0.025526589	0.01501	0.03953559	0.04069	0.025526589	0.01501	0.03953559	0.04069	.	.	.	.	.	0.174	0.38062	B	.;.	.;.	0.916956	0.12915	9.426	0.99162555497301486	0.54155	0.01609	0.05211	N	AEFI	0.021311	0.00936	N	-0.795791736362122	0.13420	0.660932	-0.960271156234613	0.10686	0.5397609	1.09738267022487E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	-0.126	0.12855	-0.092000	0.11094	-8.711000	0.00925	0.347000	0.19874	0.479000	0.26792	0.000000	0.08366	0.002000	0.04165	0.3289:0.0:0.6711:0.0	5.417	0.15679	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	0.075	222.96	35	chr2	97243955	.	G	A	222.96	.	AC=3;AF=0.075;AN=40;BaseQRankSum=3.20;DP=1177;ExcessHet=0.3476;FS=41.095;InbreedingCoeff=-0.0699;MLEAC=2;MLEAF=0.050;MQ=39.34;MQRankSum=-3.236e+00;QD=0.54;ReadPosRankSum=-1.338e+00;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,15:176:99:0|1:97243955_G_A:145,0,6715:97243955	17	0	3	1
chr2	97243956	97243956	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.T4418C:p.V1473A,	.	.	590	847	83	2	0	87	0.048849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.99	D	0.971	D	.	.	1.000	N	1.005	L	2.13	T	-1.031	T	0.062	T	0.071	0.317	5.716	0.197	0.048	-0.313	4.056	0.038	0.000513303010245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934444205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.332	0.18449	T	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.13	0.19588	T	-1.43	0.35194	N	0.122	0.11340	-1.0309	0.20163	T	0.062	0.25744	T	9	0.12386596	0.23518	T	5.13E-4	0.00163	T	0.038	0.09825	.	.	0.128392430309	0.12331	.	.	.	.	0.778462767601	0.78697	T	0.00501	0.04439	T	-0.342858	0.05193	T	-0.730268	0.04316	T	0.0193876803876741	0.00643	T	0.321068	0.06505	T	0.028899712	0.02298	0.036257796	0.03036	0.028899712	0.02298	0.036257796	0.03036	.	.	.	.	.	0.206	0.43269	B	.;.	.;.	-0.260122	0.02797	0.383	0.6572940365307649	0.07855	0.01765	0.05546	N	AEFI	0.022039	0.01053	N	-0.814270253956863	0.12945	0.6343988	-0.97458338646845	0.10358	0.5211802	1.10007016109811E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.197	0.14443	-0.334000	0.07927	-2.096000	0.04219	-0.627000	0.04526	0.469000	0.26714	0.000000	0.08366	0.002000	0.04165	0.0:0.4538:0.0:0.5462	4.056	0.09296	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	0.05	264.43	35	chr2	97243956	.	T	C	264.43	.	AC=2;AF=0.050;AN=40;BaseQRankSum=4.83;DP=1175;ExcessHet=0.1128;FS=41.232;InbreedingCoeff=-0.0650;MLEAC=2;MLEAF=0.050;MQ=39.27;MQRankSum=-3.225e+00;QD=0.90;ReadPosRankSum=-1.126e+00;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,16:177:99:0|1:97243955_G_A:187,0,6712:97243955	18	0	2	1
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q,	.	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-1.815	N	2.52	T	-0.941	T	0.006	T	0.101	-1.688	0.012	0.145	0.033	0.804	2.431	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	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	0.125	754.31	35	chr2	97243965	.	C	A	754.31	.	AC=5;AF=0.125;AN=40;BaseQRankSum=2.65;DP=1587;ExcessHet=1.2264;FS=21.000;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=39.13;MQRankSum=-3.457e+00;QD=1.01;ReadPosRankSum=-7.390e-01;SOR=2.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,21:179:99:0|1:97243955_G_A:360,0,6510:97243955	15	0	5	1
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|1:154,32:186:99:0|1:97243981_C_T:880,0,6359:97243981	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|1:149,35:184:99:0|1:97243981_C_T:1001,0,6140:97243981	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|1:175,97:272:99:0|1:97513219_T_C:3546,0,7056:97513219	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|1:184,105:289:99:0|1:97513219_T_C:3814,0,7382:97513219	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|1:200,127:327:99:0|1:97513244_G_T:4731,0,7989:97513244	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|1:207,130:337:99:0|1:97513244_G_T:4820,0,8281:97513244	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|1:207,130:337:99:0|1:97513244_G_T:4820,0,8281:97513244	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|1:201,148:349:99:0|1:97513268_C_T:5609,0,7974:97513268	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|1:203,150:353:99:0|1:97513268_C_T:5687,0,8052:97513268	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|1:203,151:354:99:0|1:97513268_C_T:5709,0,8049:97513268	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|1:196,155:351:99:0|1:97513268_C_T:5817,0,7647:97513268	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	0/1:134,59:193:99:1099,0,3346	0	0	20	1
chr2	102505267	102505267	G	A	exonic	SLC9A4	.	nonsynonymous SNV	SLC9A4:NM_001011552:exon4:c.G994A:p.A332T,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.745	P	0.000	D	1.000	D	1.82	L	2.38	T	-1.127	T	0.084	T	0.794	4.266	22.3	5.38	2.687	6.492	18.469	0.314	0.0113720125766	7.7e-05	.	6.144e-05	0	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs369636879	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	8.961e-05	6.713e-05	0	0	0	0.0002	0.0003	0.0002	1.16e-05	0.0001	0.0001	0.0002	9.415e-05	0.0002	8.169e-05	6.725e-05	0.0002	0.0001	2.414e-05	0	6.544e-05	0	0	0	0	0.0002	0	0	0.064	0.36509	T	0.072	0.43344	T	0.996	0.68779	D	0.745	0.55870	P	0.000000	0.84330	D	0.049983	0.999932	0.51612	D	2.165	0.60562	M	2.38	0.15843	T	-2.51	0.54546	D	0.497	0.53006	-1.1267	0.01947	T	0.084	0.32872	T	10	0.4993684	0.61457	T	0.011372	0.28926	T	0.314	0.63588	.	.	0.592255424068	0.58902	0.823980799542405	0.82355	0.46291831914	0.45811	0.72811627388	0.71231	T	0.284895	0.65768	T	-0.130356	0.31440	T	-0.165345	0.57867	T	0.742698967456818	0.42883	D	0.911709	0.68653	D	0.5875641	0.72019	0.7098739	0.82888	0.5875641	0.72020	0.7098739	0.82889	-9.346	0.69896	D	.	.	0.777	0.76232	P	.	.	5.018460	0.83384	28.0	0.99912215271303917	0.98167	0.95188	0.63763	D	AEFGBCI	0.687212	0.64863	D	0.495234517327388	0.66809	4.998674	0.450975135509282	0.64778	4.741152	0.999997465286433	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	6.660000	0.74263	11.583000	0.93355	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.728000	0.35033	0.0:0.0:1.0:0.0	18.469	0.90715	445	0.79730	Cation/H+ exchanger	.	.	.	.	.	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	1401.98	33	chr2	102505267	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=795;ExcessHet=0.0000;FS=0.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=1.06;SOR=0.892	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1416,0,1031	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	0/1:2,10,0:12:47:197,0,47,203,77,279	3	9	6	2
chr2	106436768	106436768	G	A	exonic	RGPD3	.	stopgain	RGPD3:NM_001144013:exon10:c.C1363T:p.R455X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	5.198	33	2.52	1.430	3.655	10.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453151376	3.201e-05	3.153e-05	3.743e-05	2.648e-05	0.0010	2.427e-05	2.161e-05	0.0003	0.0002	0	8.3e-05	0	2.801e-05	0	0.0010	3.022e-05	1.755e-05	3.844e-05	4.989e-05	6.66e-05	3.133e-05	7.09e-05	9.517e-05	2.091e-05	1.476e-05	2.309e-05	1.384e-05	0	0	9.517e-05	0	0	0	0.0035	6.899e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.367	0.40864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360264	0.87273	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.665804	0.96743	36	0.99822111011139769	0.90502	0.85766	0.44935	D	AEFI	0.126740	0.24381	N	0.463720955796487	0.64986	4.765966	0.234462444329408	0.51768	3.35672	2.35695226732246E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.52	2.52	0.29514	3.805000	0.55280	3.953000	0.40689	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.0:1.0:0.0	10.792	0.45642	904	0.23766	.;.	.	.	.	.	.	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	300.98	33	chr2	106436768	.	G	A	300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.18;DP=480;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.34;MQRankSum=-3.100e-01;QD=8.36;ReadPosRankSum=-1.121e+00;SOR=0.354	GT:AD:DP:GQ:PL	0/1:22,14:36:99:315,0,564	20	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,213,0:213:99:.:.:6904,639,0,6904,639,6904	3	5	3	0
chr2	110798668	110798668	T	C	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon6:c.T404C:p.M135T	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.01	B	0.012	B	0.000	D	0.631	N	-0.315	N	-3.57	D	-0.071	T	0.554	D	0.314	-0.065	3.682	5.33	2.019	2.562	7.926	0.337	.	.	0.00439297	0.0018	0.0001	0	0.0008	0	1.498e-05	0.0011	0.0125	0.0015977	247	154602	rs191965268	0.0007	0.0007	0.0004	0.0010	0.0106	0.0007	0.0007	0.0101	0.0098	2.987e-05	2.236e-05	0	0.0006	0	0.0005	2.968e-05	0.0013	0.0106	0.0005	0.0005	0.0004	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	0.0002	0	0.0002	0	0.0006	0	0	0	0.0005	0.0137	0.105	0.29823	T	0.503	0.25438	T	0.001	0.07471	B	0.002	0.06944	B	0.000015	0.62929	D	0.063315	0.631278	0.30696	N	0.12	0.08593	N	-3.57	0.94904	D	-2.0	0.46146	N	0.447	0.52829	-0.0706	0.80767	T	0.554	0.83719	D	10	0.0070810616	0.00161	T	.	.	.	0.337	0.65913	.	.	0.627026710118	0.62398	0.23259817033078548	0.23174	0.213799847793	0.23901	0.426493227482	0.28729	T	0.227874	0.59328	T	-0.262051	0.12660	T	-0.138806	0.60221	T	0.025490153095958	0.01338	T	0.512349	0.18957	T	0.122384645	0.28760	0.1125387	0.27154	0.122384645	0.28760	0.1125387	0.27153	-10.952	0.79394	D	.	.	0.252	0.48634	B	.;.;.	.;.;.	1.102112	0.14867	11.39	0.49921595505027799	0.04294	0.64767	0.32514	D	AEFDBI	0.114270	0.22514	N	-0.529829667362399	0.21121	1.118541	-0.394072723553601	0.25172	1.382767	0.999836907553119	0.43792	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.33	5.33	0.75683	1.916000	0.39617	-0.650000	0.08033	0.665000	0.62972	0.987000	0.36337	0.000000	0.08366	0.010000	0.09038	0.0:0.0917:0.0:0.9083	7.926	0.29034	864	0.32732	Acyl-CoA oxidase/dehydrogenase, central 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	1167.98	33	chr2	110798668	.	T	C	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=797;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.068;SOR=0.892	GT:AD:DP:GQ:PL	0/1:63,46:109:99:1182,0,1655	20	0	1	0
chr2	111862567	111862567	A	C	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon10:c.T1084G:p.S362A,	.	.	551	954	17	0	0	17	0.00883117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.841	P	0.746	P	0.080	U	0.999	D	1.87	L	.	.	-0.719	T	0.275	T	0.559	2.720	15.05	5.64	2.137	7.769	14.415	0.151	.	.	.	0.0047	0.0180	0.0025	0.0059	0.0003	0.0014	0.0013	0.0139	3.84e-05	1	26028	rs753622705	0.0004	0.0044	0.0003	0.0005	0.0047	0.0004	0.0004	0.0041	0.0038	0.0047	0.0015	0.0003	0.0010	9.409e-05	0.0012	0.0001	0.0004	0.0027	6.61e-05	0.0004	3.878e-05	9.47e-05	0.0002	3.536e-05	2.631e-05	9.701e-05	7.061e-05	0.0002	0	0	0	0	0	0	1.472e-05	0	0.0002	0.17	0.22833	T	0.404	0.14818	T	0.841	0.46518	P	0.746	0.55899	P	0.079948	0.20953	U	0.221037	0.999023	0.45899	D	2.215	0.62545	M	.	.	.	-0.97	0.25770	N	0.542	0.56919	-0.7187	0.59527	T	0.275	0.64681	T	9	0.009175271	0.00207	T	.	.	.	0.151	0.39764	.	.	0.300784259202	0.29686	0.5780039866043089	0.57729	.	.	0.76539003849	0.76733	T	0.006937	0.06364	T	0.0593238	0.59528	T	-0.152562	0.59015	T	0.0335864095914406	0.02568	T	0.675932	0.28448	T	0.07947044	0.18158	0.08809113	0.20519	0.07947044	0.18158	0.08809113	0.20518	-5.076	0.37653	T	.	.	0.082	0.08560	B	.	.	3.524964	0.49431	22.8	0.99124367532288282	0.53089	0.97830	0.77447	D	AEFBI	0.838031	0.75559	D	0.557662716379584	0.70549	5.517996	0.601730172591018	0.75064	6.245122	0.972534829490776	0.29379	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.397000	0.79162	11.183000	0.88385	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.415	0.66717	779	0.47767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	239.11	34	chr2	111862567	.	A	C	239.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.262;DP=857;ExcessHet=0.1072;FS=9.457;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=50.32;MQRankSum=-4.423e+00;QD=1.29;ReadPosRankSum=-1.646e+00;SOR=1.516	GT:AD:DP:GQ:PL	0/1:76,13:89:99:110,0,2020	19	0	2	0
chr2	113241676	113241676	C	T	exonic	PAX8	.	nonsynonymous SNV	PAX8:NM_003466:exon7:c.G652A:p.G218R	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.997	D	0.743	P	0.033	N	1.000	D	1.15	L	-3.83	D	-0.923	T	0.150	T	0.239	1.863	12.19	4.69	2.334	2.990	9.176	0.201	0.0654499464327	7.8e-05	.	1.657e-05	0.0001	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs369558233	8.893e-06	8.893e-06	1.225e-05	5.5e-06	0.0001	4.96e-06	3.82e-06	3.982e-05	2.373e-05	0.0001	6.708e-05	0	0	0	0	4.496e-06	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.522	0.10345	T	0.689	0.21011	T	0.06	0.66517	B	0.009	0.48708	B	0.032908	0.24966	N	0.420101	0.955071	0.81001	D	0.895	0.22405	L	-4.49	0.97672	D	-1.37	0.36385	N	0.34	0.41162	-0.9231	0.45126	T	0.150	0.47681	T	10	0.23265111	0.40265	T	0.06545	0.69583	D	0.330	0.65226	0.37	0.38013	0.73992180655	0.73759	0.4473266745240517	0.44650	0.062343724922	0.06938	0.679067134857	0.64134	T	0.38774	0.74858	T	-0.0425015	0.45577	T	-0.117299	0.62023	T	0.269909024238586	0.23743	T	0.936306	0.88706	D	0.09748347	0.22980	0.116722174	0.28178	0.09748347	0.22980	0.116722174	0.28177	-6.276	0.48532	T	0.22496596021780824	0.30388	0.273	0.55494	B	.;.;.;.;.;.	.;.;.;.;.;.	4.142222	0.62066	24.4	0.97637970216407	0.35063	0.38494	0.26001	N	AEFDBCIJ	0.458562	0.50954	N	0.17929247307147	0.50207	3.21282	0.23619589043219	0.51866	3.365725	0.999999995414896	0.74766	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.635259	0.50027	0	.	.	4.69	4.69	0.58546	2.793000	0.47537	7.453000	0.58980	0.599000	0.40250	0.640000	0.28085	1.000000	0.68203	0.647000	0.32611	0.0:0.8988:0.0:0.1012	9.176	0.36273	623	0.65786	.;.;.;.;.;.	.	.	.	.	.	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	1854.98	34	chr2	113241676	.	C	T	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.04;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-7.400e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1869,0,2056	20	0	1	0
chr2	113499597	113499597	C	T	exonic	FOXD4L1	.	nonsynonymous SNV	FOXD4L1:NM_012184:exon1:c.C341T:p.A114V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.005	U	1.000	D	2.555	M	-3.72	D	0.988	D	0.908	D	0.579	4.276	22.3	2.85	1.602	7.190	11.486	0.831	0.154345476065	.	0.00139776	0.0010	0	0	0	0	0	0	0.0075	0.0008473	131	154602	rs374556717	0.0004	0.0004	0.0003	0.0006	0.0073	0.0004	0.0004	0.0068	0.0066	2.987e-05	0	0	5.038e-05	0	0	3.597e-06	0.0003	0.0073	0.0002	0.0002	0.0001	0.0003	0.0059	0.0002	0.0001	0.0042	0.0036	0	0	6.736e-05	0	0.0002	0	0	4.448e-05	0	0.0059	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.004718	0.33466	U	0.000000	0.999999	0.58761	D	2.585	0.75554	M	-3.72	0.95422	D	-3.99	0.73893	D	0.608	0.62526	0.988	0.96983	D	0.908	0.96936	D	10	0.019045174	0.00421	T	0.154345	0.83547	D	0.831	0.94653	0.743	0.87486	0.969647847974	0.96932	0.2052441448797655	0.20441	.	.	0.95001065731	0.99751	D	0.385274	0.74670	T	0.121913	0.66564	D	0.11319	0.77784	D	0.134296033802504	0.15773	T	0.862614	0.55818	D	0.88414216	0.90011	0.8746658	0.93190	0.88414216	0.90012	0.8746658	0.93190	-16.395	0.98295	D	.	.	0.856	0.80074	P	.	.	5.514659	0.91719	32	0.99923344894841704	0.98917	0.96398	0.68943	D	AEFBHI	0.732283	0.67909	D	0.551668674763391	0.70185	5.464375	0.427550672238514	0.63288	4.559529	0.662182496059687	0.22283	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	2.85	2.85	0.32333	7.336000	0.78493	7.354000	0.58310	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	11.486	0.49604	546	0.72524	Fork head domain|Fork head domain|Fork head domain conserved site1|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2460.98	34	chr2	113499597	.	C	T	2460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=1590;ExcessHet=0.0000;FS=1.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.57;MQRankSum=-1.666e+00;QD=10.30;ReadPosRankSum=-2.228e+00;SOR=0.826	GT:AD:DP:GQ:PL	0/1:137,102:239:99:2475,0,3476	20	0	1	0
chr2	119452057	119452057	C	T	exonic	SCTR	.	nonsynonymous SNV	SCTR:NM_002980:exon9:c.G874A:p.A292T,	.	.	431	1070	20	1	0	22	0.0101758	.	.	719210	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.009	B	0.134	N	1.000	N	0.35	N	1.16	T	-1.008	T	0.029	T	0.101	-0.393	2.157	1.42	0.409	-0.027	8.701	0.038	0.00774449728477	0.0038	0.00119808	0.0048	0.0007	0.0064	0	0.0011	0.0065	0.0059	0.0032	0.0038874	601	154602	rs140893531	0.0041	0.0041	0.0040	0.0041	0.0262	0.0040	0.0040	0.0228	0.0215	0.0010	0.0032	0.0072	0	0.0005	0.0262	0.0043	0.0048	0.0034	0.0038	0.0038	0.0042	0.0033	0.0052	0.0035	0.0034	0.0047	0.0046	0.0008	0.0680	0.0045	0.0058	0	0.0004	0.0306	0.0052	0.0057	0.0029	0.839	0.02818	T	0.547	0.09522	T	0.001	0.07471	B	0.009	0.14300	B	0.134378	0.18519	N	0.487155	1	0.08975	N	0.04	0.08086	N	1.16	0.38073	T	0.55	0.02721	N	0.307	0.34659	-1.0075	0.27696	T	0.029	0.12585	T	10	0.0034151971	0.00060	T	0.007744	0.20536	T	0.038	0.09825	.	.	0.316788114976	0.31282	0.174988369672844	0.17417	0.092802932358	0.10482	0.265227228403	0.05529	T	0.065123	0.32609	T	-0.638099	0.00085	T	-0.687857	0.06513	T	0.000873557410316044	0.00008	T	0.179182	0.01770	T	0.023302292	0.01059	0.03663332	0.03149	0.023302292	0.01059	0.03663332	0.03148	-4.812	0.34731	T	.	.	0.063	0.01491	B	.	.	0.555117	0.09238	6.019	0.6138686733643739	0.06696	0.12907	0.17550	N	AEFBCI	0.130667	0.24931	N	-1.276428183442	0.03961	0.1779107	-1.20324611166479	0.05858	0.2802926	0.0325168889516921	0.14058	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	1.42	0.21524	-0.029000	0.12278	-1.436000	0.05444	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.0:0.6734:0.1212:0.2054	8.701	0.33484	939	0.14249	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1208.98	34	chr2	119452057	.	C	T	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=769;ExcessHet=0.0000;FS=0.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-2.099e+00;SOR=0.865	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1223,0,891	20	0	1	0
chr2	120955382	120955382	G	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon4:c.G220A:p.G74S	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	283817	Holoprosencephaly_9|GLI2-related_disorder|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|.|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.748	P	0.43	B	0.010	N	1.000	D	1.545	L	-1.02	T	-0.666	T	0.323	T	0.491	3.047	16.17	2.9	0.576	3.829	9.914	0.297	0.059518331869	.	0.000399361	0.0005	0.0001	0	0	0	1.634e-05	0.0012	0.0034	0.000401	62	154602	rs542892514	0.0002	0.0002	9.811e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	1.62e-05	0.0004	0.0023	8.54e-05	8.53e-05	5.141e-05	0.0001	0.0021	4.956e-05	3.962e-05	0.0011	0.0009	2.406e-05	0	6.534e-05	0	0	0	0	1.471e-05	0	0.0021	0.156	0.24090	T	0.14	0.33554	T	0.748	0.43202	P	0.43	0.45392	B	0.010281	0.29986	N	0.333668	1	0.81001	D	0.74	0.18910	N	-1.02	0.76300	T	-1.83	0.42957	N	0.386	0.42737	-0.6662	0.62000	T	0.323	0.69160	T	10	0.03045237	0.01172	T	0.059518	0.67689	D	0.297	0.61730	.	.	0.828300695968	0.82667	0.627326364951197	0.62665	0.332517542101	0.35298	0.371491253376	0.21046	T	0.436806	0.78306	T	-0.296152	0.09028	T	-0.201856	0.54470	T	0.0966371503767715	0.11982	T	0.789321	0.42944	T	0.040447686	0.05774	0.08050302	0.18217	0.040447686	0.05774	0.08050302	0.18216	-4.038	0.24370	T	.	.	0.070	0.03661	B	.;.	.;.	2.869711	0.37944	20.6	0.99697759888077608	0.80385	0.85589	0.44737	D	AEFDBCI	0.656010	0.62815	D	-0.337242329761152	0.27743	1.524646	-0.313726530226094	0.27654	1.536084	0.99999538529776	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.73	2.9	0.32809	4.086000	0.57387	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.397000	0.26714	0.0762:0.1393:0.7845:0.0	9.914	0.40590	693	0.58582	.;.	.	.	.	.	.	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	2565.98	36	chr2	120955382	.	G	A	2565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.968e+00;DP=1611;ExcessHet=0.0000;FS=0.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-3.320e-01;SOR=0.757	GT:AD:DP:GQ:PL	0/1:85,106:191:99:2580,0,2200	20	0	1	0
chr2	120986508	120986508	C	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon12:c.C1761A:p.F587L	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	0	1519	2	0	1	3	0.000657895	.	.	269632	GLI2-related_disorder|Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|Inborn_genetic_diseases|not_specified	.|MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.003	B	0.000	N	0.893	D	-0.75	N	2.85	T	-0.957	T	0.011	T	0.135	0.030	4.172	-4.17	-0.710	-1.393	2.717	0.043	0.00301202664379	.	0.00119808	0.0008	9.688e-05	0	0.0001	0	1.507e-05	0.0022	0.0058	0.0007309	113	154602	rs151179617	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0044	0	0	0	7.557e-05	0	0.0002	1.888e-05	0.0007	0.0049	0.0002	0.0002	6.424e-05	0.0003	0.0044	0.0001	9.233e-05	0.0029	0.0025	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0044	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	0.000271	0.46590	N	0.190810	0.893234	0.36000	D	0.225	0.09600	N	2.85	0.10578	T	0.2	0.04861	N	0.253	0.29081	-0.9567	0.39789	T	0.011	0.04088	T	10	0.007616669	0.00173	T	0.003012	0.06457	T	0.043	0.11576	0.206	0.12216	0.231005064126	0.22704	0.1349953438755376	0.13423	0.378555398696	0.39267	0.471986532211	0.34953	T	0.292679	0.66540	T	-0.674332	0.00052	T	-0.739903	0.03895	T	0.00367637285019415	0.00039	T	0.691931	0.30130	T	0.022781841	0.00965	0.031113928	0.01657	0.028577484	0.02216	0.033707824	0.02310	3.86	0.00010	T	.	.	0.271	0.50817	B	.;.	.;.	-0.976549	0.00805	0.027	0.73521090880562889	0.10358	0.17017	0.19652	N	AEFDBI	0.141512	0.26370	N	-1.57773241972852	0.01379	0.06012452	-1.46620898069423	0.02626	0.1211341	0.993160851510837	0.33110	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.89	-4.17	0.03595	-2.175000	0.01348	.	.	-1.666000	0.00806	0.000000	0.06391	0.000000	0.08366	0.776000	0.36750	0.1278:0.1278:0.2247:0.5197	2.717	0.04869	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2559.98	38	chr2	120986508	.	C	A	2559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.300e-02;DP=937;ExcessHet=0.0000;FS=1.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-1.731e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/1:101,106:207:99:2574,0,2397	20	0	1	0
chr2	120988622	120988622	C	G	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon13:c.C2282G:p.T761S	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	4	1516	2	0	0	2	0.000659196	.	.	269631	not_provided|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|Holoprosencephaly_9|Inborn_genetic_diseases|not_specified|GLI2-related_disorder	MedGen:C3661900|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.997	D	0.000	D	1.000	D	2.375	M	-2.99	D	0.920	D	0.867	D	0.668	3.593	18.30	4.6	2.390	7.196	17.596	0.581	0.610079480156	.	0.00119808	0.0045	0	0	0	0	0	0	0.0072	0.0004657	72	154602	rs572826436	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0045	0.0044	0	0	0	0.0001	0	0.0002	1.724e-05	0.0007	0.0050	0.0002	0.0002	6.473e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	2.412e-05	0	0	0	0	0	0	1.479e-05	0.0005	0.0048	0.013	0.53900	D	0.119	0.36101	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.052232	0.999902	0.50806	D	2.58	0.75369	M	-2.99	0.92108	D	-3.17	0.64363	D	0.281	0.37301	0.920	0.95952	D	0.867	0.95580	D	10	0.010597259	0.00235	T	0.610079	0.96593	D	0.581	0.83137	0.205	0.12076	0.860502911996	0.85915	0.41221432367709315	0.41137	0.98996793684	0.74031	0.830188751221	0.86591	D	0.861673	0.96936	D	-0.0753124	0.40473	T	0.119035	0.78171	D	0.232219366541824	0.22056	T	0.838616	0.51177	T	0.419171	0.62036	0.28689033	0.54699	0.49807093	0.66983	0.2755065	0.53487	-6.193	0.47866	T	.	.	0.236	0.46972	B	.;.	.;.	3.680406	0.52381	23.2	0.99053763118265459	0.51321	0.99334	0.94646	D	AEFBI	0.870305	0.79122	D	0.603555724324532	0.73399	5.960	0.495638472418361	0.67699	5.119306	0.999999999994314	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.6	4.6	0.56512	7.449000	0.79702	.	.	0.498000	0.22619	1.000000	0.71638	1.000000	0.68203	0.040000	0.14268	0.0:1.0:0.0:0.0	17.596	0.87913	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	714.98	35	chr2	120988622	.	C	G	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.130e+00;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=0.732;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,24:48:99:729,0,743	20	0	1	0
chr2	120989374	120989374	G	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon13:c.G3034A:p.V1012I	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	283860	GLI2-related_disorder|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|Holoprosencephaly_9	.|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.912	P	0.208	B	0.174	N	0.959	D	2.095	M	2.4	T	-0.993	T	0.038	T	0.119	1.497	10.96	-7.67	-2.229	0.013	21.388	0.143	0.00855994381457	.	0.00119808	0.0010	0.0001	0	0	0.0006	7.883e-05	0.0023	0.0060	0.0007762	120	154602	rs200999705	0.0004	0.0004	0.0002	0.0005	0.0053	0.0004	0.0003	0.0049	0.0047	0	0	0	0	0.0004	0.0002	4.856e-05	0.0005	0.0053	0.0002	0.0002	6.423e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0048	0.028	0.46129	D	0.362	0.16865	T	0.714	0.42167	P	0.084	0.29270	B	0.174083	0.17289	N	0.614735	0.958563	0.38082	D	2.73	0.79844	M	2.4	0.15608	T	-0.73	0.20576	N	0.111	0.09772	-0.9929	0.31853	T	0.038	0.16462	T	9	0.0058817863	0.00132	T	0.00856	0.22631	T	0.143	0.38195	.	.	0.330131851566	0.32626	0.027089717986565696	0.02658	0.283359046316	0.30779	0.267864227295	0.05864	T	0.468985	0.80270	T	-0.602178	0.00141	T	-0.635845	0.09975	T	0.0418941686108869	0.04035	T	0.822518	0.48242	T	0.04696511	0.07948	0.08832438	0.20586	0.058320735	0.11718	0.08019601	0.18121	-5.014	0.36992	T	.	.	0.117	0.23814	B	.;.	.;.	-0.831877	0.01046	0.045	0.82864421424232426	0.14415	0.07008	0.13034	N	AEFDBI	0.105908	0.21148	N	-1.0302264698652	0.07981	0.3726483	-1.24517672865758	0.05203	0.2473326	0.999460132751852	0.39843	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	-7.67	0.01133	0.194000	0.16941	.	.	-2.714000	0.00206	0.015000	0.19116	0.000000	0.08366	0.009000	0.08673	0.1055:0.0:0.8945:0.0	21.388	0.99954	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2818.98	33	chr2	120989374	.	G	A	2818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.299e+00;DP=955;ExcessHet=0.0000;FS=1.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-9.540e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:90,113:203:99:2833,0,2187	20	0	1	0
chr2	120990474	120990474	T	G	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon13:c.T4134G:p.D1378E	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	690729	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|GLI2-related_disorder|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.999	D	0.000	D	1.000	D	1.97	M	2.08	T	-1.104	T	0.097	T	0.438	3.480	17.81	0.46	0.065	-0.304	8.184	0.140	0.012143239122	.	0.00119808	0.0009	9.61e-05	0	0	0	1.499e-05	0.0022	0.0061	0.0007374	114	154602	rs148902971	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	0	0	0	0	0	0.0002	1.978e-05	0.0005	0.0053	0.0002	0.0002	6.434e-05	0.0003	0.0046	0.0001	9.712e-05	0.0031	0.0026	2.411e-05	0	0	0	0	0	0	1.472e-05	0.0005	0.0046	0.096	0.31088	T	0.242	0.24264	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.993158	0.81001	D	2.16	0.60381	M	2.08	0.20255	T	-3.53	0.68532	D	0.276	0.45426	-1.1042	0.03620	T	0.097	0.36289	T	10	0.0089434385	0.00202	T	0.012143	0.30444	T	0.140	0.37593	0.415	0.45380	0.553613530234	0.55019	0.23111098123495497	0.23026	0.30992876503	0.33302	0.691289424896	0.65891	T	0.605503	0.87419	D	-0.46865	0.00867	T	-0.443903	0.28371	T	0.144600420726728	0.16665	T	0.89621	0.63821	D	0.2711871	0.50189	0.21622759	0.46243	0.25917405	0.48970	0.21088973	0.45493	-4.457	0.30322	T	.	.	0.386	0.59005	A	.;.	.;.	2.008987	0.25529	16.79	0.99542126712036594	0.70586	0.47749	0.28053	N	AEFDBI	0.464170	0.51278	N	0.0796897720188608	0.45516	2.806824	-0.0490531016157197	0.37531	2.198759	0.81670771387388	0.24451	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.98	0.46	0.15895	-0.386000	0.07428	.	.	-0.120000	0.14102	0.149000	0.23640	0.000000	0.08366	0.992000	0.67800	0.0:0.4997:0.0:0.5003	8.184	0.30491	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1373.98	33	chr2	120990474	.	T	G	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.370e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1388,0,1413	20	0	1	0
chr2	127426085	127426085	T	G	exonic	PROC	.	nonsynonymous SNV	PROC:NM_001375603:exon6:c.T701G:p.V234G	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	0.0012	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	B	0.035	B	0.165	N	0.999	D	1.505	L	-3.17	D	-0.175	T	0.666	D	0.557	1.038	9.241	0.447	0.234	0.319	6.718	0.458	0.976387761484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.11844	T	0.49	0.15842	T	0.04	0.25173	B	0.021	0.22741	B	0.164553	0.17559	N	0.420309	0.995215	0.45987	D	2.015	0.55033	M	-3.17	0.95282	D	-2.86	0.71519	D	0.22	0.26111	-0.1749	0.78308	T	0.666	0.88418	D	9	0.46372572	0.59442	T	0.976388	0.99867	D	0.458	0.75619	0.566	0.68768	0.908420004636	0.90750	0.9567647769327902	0.95661	0.590220216331	0.54492	0.517414927483	0.41262	T	0.749975	0.93141	D	0.126901	0.67057	D	-0.0554924	0.66645	D	0.130004361271858	0.15382	T	0.329867	0.12799	T	0.86666936	0.88600	0.3716135	0.62387	0.86666936	0.88601	0.3716135	0.62387	-6.954	0.53698	T	.	.	0.100	0.35581	B	.;.;.	.;.;.	1.749503	0.22256	15.55	0.77757963980282541	0.12010	0.48431	0.28205	N	AEFBCI	0.732954	0.67954	D	-0.533795729774363	0.20994	1.110932	-0.520629303807163	0.21593	1.168861	0.999589950306635	0.40607	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.0	0.447	0.15819	0.124000	0.15557	1.549000	0.27280	0.580000	0.29708	0.987000	0.36337	1.000000	0.68203	0.554000	0.30269	0.0:0.319:0.0:0.681	6.718	0.22502	964	0.07719	.;.;.	.	.	.	.	.	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	2317.98	33	chr2	127426085	.	T	G	2317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=881;ExcessHet=0.0000;FS=1.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-4.240e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/1:85,93:178:99:2332,0,2007	20	0	1	0
chr2	130074453	130074453	G	C	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.C3019G:p.P1007A,	.	.	34	1483	5	0	0	5	0.00168294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.032	B	.	.	1.000	D	2.7	M	2.89	T	-1.107	T	0.037	T	0.294	2.313	13.69	.	0.119	6.566	5.905	0.171	0.00203542973611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.448e-06	1.37e-06	0	2.91e-06	0.0003	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0003	0	1.735e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.06	0.45744	T	0.005	0.12996	B	0.032	0.22131	B	.	.	.	.	0.973106	0.25565	N	2.795	0.81503	M	2.89	0.10196	T	-4.06	0.74582	D	0.35	0.39153	-1.1065	0.03388	T	0.037	0.16073	T	8	0.51089275	0.62090	D	0.002035	0.03695	T	0.171	0.43483	0.758	0.88730	0.0401082797425	0.02173	0.007426498549510711	0.00708	.	.	0.576277017593	0.49561	T	0.606106	0.87447	D	-0.154052	0.27680	T	-0.459061	0.26703	T	0.847961485385895	0.49991	D	0.976502	0.91818	D	0.11898202	0.28022	0.15261135	0.35899	0.11898202	0.28022	0.15261135	0.35898	-8.519	0.64555	D	.	.	0.165	0.36335	B	.	.	2.179355	0.27780	17.58	0.95992124535403633	0.28391	0.69583	0.34245	D	AEFI	0.299721	0.40870	N	-0.539066370539018	0.20828	1.100889	-0.677058283015964	0.17535	0.9328214	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	6.893000	0.75468	.	.	0.189000	0.17846	1.000000	0.71638	1.000000	0.68203	0.203000	0.21983	8.0E-4:0.0:0.9992:0.0	5.905	0.18235	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	0.02381	105.98	27	chr2	130074453	.	G	C	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.984e+00;DP=488;ExcessHet=0.0000;FS=22.368;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=24.00;MQRankSum=0.00;QD=3.93;ReadPosRankSum=-8.030e-01;SOR=4.164	GT:AD:DP:GQ:PL	0/1:20,7:27:99:120,0,494	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	1/1:0,230,0:230:99:.:.:6959,690,0,7456,719,8816	4	10	6	0
chr2	131264474	131264474	C	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.C3019G:p.P1007A,	.	.	54	1463	5	0	0	5	0.0017059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.103	B	0.006	B	.	.	1.000	N	2.9	M	2.89	T	-1.029	T	0.037	T	0.183	2.208	13.34	.	0.119	5.240	5.905	0.130	0.0220469055316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.737e-07	2.063e-06	0	1.55e-06	0.0003	0	0	.	.	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.071	0.43531	T	0.103	0.25884	B	0.006	0.12133	B	.	.	.	.	1	0.81001	D	3.08	0.87267	M	2.89	0.10196	T	-4.06	0.74582	D	0.36	0.40164	-1.0294	0.20649	T	0.037	0.16160	T	8	0.45167503	0.58737	T	0.022047	0.44897	T	0.130	0.35528	0.759	0.88811	0.0551355673512	0.04727	0.004799797664944838	0.00451	.	.	0.575396418571	0.49437	T	0.655179	0.89584	D	-0.181814	0.23467	T	-0.498939	0.22457	T	0.824835538864136	0.48134	D	0.976502	0.91818	D	0.13685185	0.31710	0.14074449	0.33539	0.13685185	0.31709	0.14074449	0.33538	-8.616	0.65195	D	.	.	0.150	0.33086	B	.	.	1.621806	0.20713	14.88	0.95299511881352827	0.26618	0.57305	0.30342	D	AEFI	0.215913	0.34122	N	-0.534621343708911	0.20967	1.109326	-0.688031739326576	0.17260	0.9169333	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	5.537000	0.66897	.	.	0.179000	0.17797	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	148.99	27	chr2	131264474	.	C	G	148.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=585;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=26.83;MQRankSum=-3.590e-01;QD=3.31;ReadPosRankSum=-4.230e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/1:35,10:45:99:163,0,955	20	0	1	0
chr2	132784298	132784298	G	T	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.C2513A:p.A838D,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.919	P	0.51	P	0.002	U	1.000	N	0.975	L	0.89	T	-1.046	T	0.083	T	0.266	1.206	9.897	2.08	0.243	2.072	5.620	0.100	0.0122249721342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.028	0.54934	D	0.919	0.50927	P	0.51	0.47925	P	0.001705	0.38216	U	0.000000	1	0.08975	N	2.505	0.72935	M	0.89	0.45636	T	-1.08	0.28084	N	0.451	0.57775	-1.0462	0.15476	T	0.083	0.32499	T	10	0.23833513	0.40952	T	0.012225	0.30597	T	0.100	0.28662	0.09	0.01023	0.225033846419	0.22103	0.3132139575603709	0.31234	0.240212864778	0.26565	0.305776238441	0.11269	T	0.005525	0.04972	T	-0.154436	0.27618	T	-0.459613	0.26640	T	0.744059503078461	0.42957	D	0.805819	0.45382	T	0.2492459	0.47918	0.2271649	0.47718	0.2492459	0.47918	0.2271649	0.47717	-4.18	0.26461	T	.	.	0.178	0.38871	B	.;.	.;.	2.259925	0.28873	17.94	0.98893195234838549	0.48037	0.84434	0.43516	D	AEFBI	0.265951	0.38297	N	-0.200090190320815	0.33129	1.876186	-0.30038168124897	0.28086	1.563267	1.78607105011621E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	2.08	0.26079	2.306000	0.43333	.	.	0.672000	0.70159	0.995000	0.38783	0.138000	0.23065	0.123000	0.19290	0.2126:0.2842:0.5032:0.0	5.620	0.16731	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1965.98	84	chr2	132784298	.	G	T	1965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.606e+00;DP=1840;ExcessHet=0.0000;FS=1.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-2.800e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:95,76:171:99:1980,0,2614	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/3:22,3,0,4:29:13:13,20,549,92,544,620,0,428,517,513	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/3:22,3,0,4:29:13:13,20,549,92,544,620,0,428,517,513	1	6	10	0
chr2	152718958	152718958	C	T	exonic	ARL6IP6	.	nonsynonymous SNV	ARL6IP6:NM_001371972:exon1:c.C334T:p.L112F	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.004	B	0.01	B	0.038	N	1.000	N	1.59	L	.	.	-1.032	T	0.069	T	0.14	1.999	12.64	0.714	0.238	0.102	6.008	0.009	0.0052537401606	7.7e-05	0.000599042	0.0002	0	0.0009	0	0	0.0002	0	0	0.0001811	28	154602	rs199937873	0.0001	0.0001	0.0001	0.0001	0.0023	0.0001	0.0001	0.0013	0.0011	0.0002	0.0009	0	0	0	0.0023	0.0001	0.0005	1.176e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0	0.0002	0.0028	0	0.145	0.25154	T	0.091	0.40110	T	0.004	0.12183	B	0.01	0.14941	B	0.037622	0.24379	N	0.325673	0.999998	0.08975	N	1.055	0.26876	L	.	.	.	-1.67	0.39887	N	0.107	0.09207	-1.0324	0.19681	T	0.069	0.28247	T	9	0.011358827	0.00249	T	0.005254	0.13402	T	0.009	0.00846	.	.	0.146414634003	0.14194	0.38341896667500547	0.38256	0.23699259497	0.26238	0.464219331741	0.33889	T	0.047695	0.27800	T	-0.465105	0.00913	T	-0.521394	0.20154	T	0.0133956366604718	0.00242	T	0.582242	0.21111	T	0.075339444	0.16968	0.11074644	0.26707	0.075339444	0.16967	0.11074644	0.26706	-4.681	0.33173	T	.	.	0.070	0.03588	B	.	.	1.447892	0.18681	13.87	0.97687485033299215	0.35352	0.10896	0.16267	N	AEFDGBHCI	0.105515	0.21081	N	-0.834406952924397	0.12437	0.6062174	-0.835451139346746	0.13637	0.7085466	0.99999999997221	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.71	0.714	0.17336	0.108000	0.15232	-0.149000	0.11438	-0.187000	0.09635	0.276000	0.25103	0.170000	0.23335	0.951000	0.49849	0.0:0.5803:0.1513:0.2684	6.008	0.18787	407	0.82314	.	.	.	.	.	.	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	1102.98	35	chr2	152718958	.	C	T	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=815;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=-1.275e+00;SOR=0.586	GT:AD:DP:GQ:PL	0/1:68,44:112:99:1117,0,1762	20	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:131,55:198:39:39,0,2688	3	0	15	3
chr2	169157424	169157424	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11966A:p.C3989Y,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.000	D	1.000	D	1.1	L	-4.52	D	1.092	D	0.933	D	0.956	4.154	21.5	5.88	2.778	7.073	19.823	0.806	0.241548340331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	-4.52	0.97693	D	-9.97	0.98788	D	0.978	0.98840	1.092	0.99320	D	0.933	0.97809	D	10	0.8833375	0.87651	D	0.241548	0.88722	D	0.806	0.93699	0.489	0.57415	0.913727486721	0.91286	0.9963272788796702	0.99630	2.21030123888	0.95757	0.654697299004	0.60652	T	0.59122	0.86761	D	0.547699	0.95668	D	0.548955	0.95604	D	0.999599039554596	0.98068	D	0.99961	0.99838	D	0.95857286	0.97136	0.94939035	0.98363	0.95857286	0.97136	0.94939035	0.98363	-13.597	0.91673	D	.	.	0.987	0.92711	P	.;.	.;.	4.337275	0.66507	25.0	0.99730655281768066	0.82761	0.98691	0.85635	D	AEFBI	0.891640	0.82779	D	0.698004536028874	0.79502	7.091025	0.712999882364409	0.83367	8.00278	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.455000	0.79783	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1014.11	35	chr2	169157424	.	C	T	1014.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.372e+00;DP=811;ExcessHet=0.1072;FS=161.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=-2.470e-01;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,6:38:99:0|1:169157424_C_T:118,0,1304:169157424	19	0	2	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.995	D	0.756	P	0.000	D	1.000	D	0.895	L	-1.6	D	-0.077	T	0.508	D	0.777	4.016	20.6	5.88	2.242	8.453	15.949	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.0625	1021.77	36	chr2	169157427	.	A	G	1021.77	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.196e+00;DP=874;ExcessHet=0.1072;FS=180.188;InbreedingCoeff=-0.1334;MLEAC=3;MLEAF=0.094;MQ=60.00;MQRankSum=0.00;QD=7.00;ReadPosRankSum=-2.800e-02;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,6:38:99:0|1:169157424_C_T:118,0,1304:169157424	14	0	2	5
chr2	169157430	169157430	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11960C:p.F3987S,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.99	D	0.743	P	0.000	D	1.000	D	0.805	L	-1.79	D	-0.037	T	0.497	T	0.833	4.275	22.3	5.88	2.242	8.453	15.949	0.820	0.122439220717	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs61995919	2.186e-06	0.0002	4.374e-06	0	2.902e-06	5.8e-07	1.6e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.902e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.0	0.92824	D	0.99	0.63424	D	0.743	0.55802	P	0.000002	0.62929	D	0.102964	1	0.81001	D	2.74	0.80084	M	-1.79	0.83815	D	-5.18	0.83557	D	0.93	0.93487	-0.0371	0.81481	T	0.497	0.80946	T	10	0.8600701	0.85222	D	0.122439	0.80341	D	0.820	0.94238	0.665	0.80300	0.61012745286	0.60699	0.9427786389111651	0.94258	2.20355478117	0.95687	0.612346053123	0.54648	T	0.344936	0.71339	T	0.305724	0.83417	D	0.201375	0.83202	D	0.992530286312103	0.83038	D	0.530047	0.17581	T	0.5582403	0.70412	0.71140873	0.82975	0.5582403	0.70413	0.71140873	0.82976	-6.333	0.48983	T	.	.	0.965	0.88693	P	.;.	.;.	4.115159	0.61465	24.3	0.99863933463691823	0.94184	0.99146	0.91905	D	AEFBI	0.876095	0.79991	D	0.536490062201209	0.69265	5.332245	0.591566982345825	0.74334	6.11932	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.25	575.39	26	chr2	169157430	.	A	G	575.39	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-5.290e-01;DP=696;ExcessHet=0.1128;FS=181.169;InbreedingCoeff=-0.3334;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=4.05;ReadPosRankSum=0.107;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,6:38:99:0|1:169157424_C_T:118,0,1324:169157424	2	0	2	17
chr2	169157431	169157431	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11959C:p.F3987L,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.043	B	0.014	B	0.000	D	1.000	D	0.46	N	-1.73	D	-0.548	T	0.351	T	0.406	2.878	15.59	5.88	2.242	5.461	15.949	0.338	0.0361222483026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.753e-05	0.0022	0.0001	8.903e-05	0.0001	8.287e-05	7.743e-05	9.794e-05	9.145e-05	3.557e-05	0	0	5.575e-05	0.0001	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.084	0.41239	T	0.043	0.21573	B	0.014	0.16862	B	0.000002	0.62929	D	0.102964	0.999998	0.58761	D	2.045	0.56016	M	-1.73	0.83327	D	-4.13	0.75139	D	0.626	0.64052	-0.5484	0.66847	T	0.351	0.71502	T	10	0.30924746	0.48413	T	0.036122	0.56792	D	0.338	0.66010	0.459	0.52590	0.505559545342	0.50193	0.8869475601486423	0.88663	0.901021167792	0.70643	0.635681688786	0.57951	T	0.353004	0.72036	T	0.0596301	0.59566	T	-0.152122	0.59056	T	0.97569864988327	0.71047	D	0.750125	0.37153	T	0.4331667	0.62959	0.4349336	0.66996	0.4331667	0.62959	0.4349336	0.66996	-5.635	0.43111	T	.	.	0.985	0.92330	P	.;.	.;.	3.238651	0.44194	21.9	0.99575746748544613	0.72682	0.96519	0.69544	D	AEFBI	0.619425	0.60486	D	-0.0799446757033397	0.38272	2.239039	0.131085804566848	0.46146	2.865539	0.990828206028358	0.32281	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	5.781000	0.68615	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.25	578.39	26	chr2	169157431	.	A	G	578.39	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-6.700e-02;DP=694;ExcessHet=0.1128;FS=180.188;InbreedingCoeff=-0.3334;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=4.10;ReadPosRankSum=0.149;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,6:37:99:0|1:169157424_C_T:121,0,1282:169157424	2	0	2	17
chr2	169157433	169157433	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11957C:p.G3986A,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	1.04	L	-1.65	D	0.185	D	0.622	D	0.809	3.779	19.19	5.88	2.778	7.047	19.823	0.685	0.0741312127491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0047	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0004	0	0.0001	7.766e-05	0	0	0.0004	0.0001	9.746e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.054	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.65	0.82625	D	-4.04	0.74427	D	0.875	0.87265	0.185	0.85659	D	0.622	0.86676	D	10	0.8524667	0.84430	D	0.074131	0.71964	D	0.685	0.88490	0.577	0.70217	0.675757427234	0.67301	0.9174403899428152	0.91719	1.7735257329	0.91315	0.485903203487	0.36872	T	0.317913	0.68933	T	0.272253	0.80643	D	0.153296	0.80392	D	0.991292774677277	0.81572	D	0.875412	0.58680	D	0.4754566	0.65624	0.43292475	0.66862	0.4754566	0.65624	0.43292475	0.66862	-8.734	0.65968	D	.	.	0.383	0.58622	A	.;.	.;.	3.800135	0.54746	23.5	0.99552602734415152	0.71211	0.98963	0.89243	D	AEFBI	0.809705	0.73314	D	0.664427782730604	0.77307	6.649371	0.686270369385145	0.81334	7.502817	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	4.890000	0.45755	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	976.96	22	chr2	169157433	.	C	G	976.96	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-8.780e-01;DP=566;ExcessHet=0.1190;FS=161.151;InbreedingCoeff=-0.3523;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=6.65;ReadPosRankSum=0.235;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,6:37:99:0|1:169157424_C_T:121,0,1282:169157424	2	0	2	17
chr2	169157434	169157434	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11956C:p.G3986R,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.04	L	-1.66	D	0.301	D	0.629	D	0.945	4.471	23.9	5.88	2.778	7.047	19.823	0.799	0.118172883463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.487e-05	0.0016	4.341e-05	4.634e-05	6.271e-05	3.572e-05	3.242e-05	4.378e-05	4.003e-05	6.271e-05	0	0	0	0	0	5.582e-05	3.463e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.66	0.82715	D	-5.59	0.86527	D	0.964	0.97426	0.301	0.87568	D	0.629	0.86968	D	10	0.890576	0.88398	D	0.118173	0.79815	D	0.799	0.93425	0.638	0.77470	0.80244631523	0.80060	0.9574406042201115	0.95729	1.86679822297	0.92466	0.568949699402	0.48529	T	0.474796	0.80610	T	0.414005	0.90700	D	0.356913	0.90584	D	0.996428310871124	0.89318	D	0.959004	0.84537	D	0.72273713	0.79314	0.6796857	0.81181	0.72273713	0.79316	0.6796857	0.81182	-7.652	0.58673	D	.	.	0.773	0.76054	P	.;.	.;.	4.159784	0.62465	24.5	0.99916567827365443	0.98449	0.98963	0.89243	D	AEFBI	0.835750	0.75361	D	0.685555810397683	0.78685	6.921854	0.701553584419606	0.82495	7.781566	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3333	581.37	22	chr2	169157434	.	C	G	581.37	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-6.740e-01;DP=565;ExcessHet=0.1190;FS=181.169;InbreedingCoeff=-0.3548;MLEAC=5;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=4.09;ReadPosRankSum=0.340;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,6:37:99:0|1:169157424_C_T:121,0,1282:169157424	1	0	2	18
chr2	169157436	169157436	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11954C:p.G3985A,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	0.895	L	-1.85	D	0.380	D	0.640	D	0.762	2.940	15.80	5.0	1.472	4.231	16.750	0.607	0.094844139814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.963e-05	0.0021	9.586e-05	8.343e-05	0.0001	7.644e-05	7.154e-05	9.486e-05	8.871e-05	3.219e-05	0	3.955e-05	0	0	0	0.0001	7.09e-05	2.388e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.103814	0.999998	0.58761	D	2.815	0.81989	M	-1.85	0.84267	D	-3.44	0.67477	D	0.682	0.68863	0.380	0.88792	D	0.640	0.87434	D	10	0.6728179	0.70815	D	0.094844	0.76324	D	0.607	0.84559	0.496	0.58520	0.827288872919	0.82565	0.8308267525920461	0.83041	1.70071209603	0.90279	0.435361415148	0.29943	T	0.269024	0.64119	T	0.221167	0.75886	D	0.0799145	0.75572	D	0.987110495567322	0.77675	D	0.963604	0.86445	D	0.24565183	0.47526	0.27967104	0.53937	0.24565183	0.47526	0.27967104	0.53936	-6.662	0.51523	T	.	.	0.250	0.48448	B	.;.	.;.	3.405079	0.47205	22.4	0.99252938159557735	0.56924	0.93755	0.59098	D	AEFBI	0.403661	0.47726	N	0.431237016008458	0.63148	4.542994	0.420543337839202	0.62847	4.507159	0.998516418245828	0.37109	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.571000	0.60593	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.8707:0.1293:0.0	16.750	0.85343	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	963.13	28	chr2	169157436	.	C	G	963.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.077e+00;DP=842;ExcessHet=0.1072;FS=160.288;InbreedingCoeff=-0.0507;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.60;ReadPosRankSum=0.012;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,6:37:99:0|1:169157424_C_T:121,0,1282:169157424	19	0	2	0
chr2	169157437	169157437	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11953C:p.G3985R,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	0.55	N	-1.86	D	0.339	D	0.608	D	0.833	3.433	17.61	5.0	1.470	4.256	16.096	0.602	0.203609127207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	0.0002	0	1.38e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.103814	1	0.81001	D	2.815	0.81989	M	-1.86	0.84341	D	-4.75	0.80256	D	0.855	0.85132	0.339	0.88174	D	0.608	0.86081	D	10	0.7769506	0.77537	D	0.203609	0.86885	D	0.602	0.84291	0.524	0.62818	0.774801070231	0.77273	0.9005944074231604	0.90031	1.84831481728	0.92256	0.514880537987	0.40906	T	0.324763	0.69555	T	0.296866	0.82715	D	0.188651	0.82492	D	0.99759715795517	0.91939	D	0.960604	0.85218	D	0.49745262	0.66945	0.3962246	0.64269	0.49745262	0.66946	0.3962246	0.64269	-6.379	0.49345	T	.	.	0.381	0.58505	A	.;.	.;.	3.539775	0.49704	22.8	0.99893898806594628	0.96742	0.97088	0.72619	D	AEFBI	0.648092	0.62303	D	0.376887958852258	0.60170	4.203269	0.37201848805068	0.59845	4.165976	0.99903127065887	0.38264	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.596000	0.60764	5.910000	0.51009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.135:0.865:0.0:0.0	16.096	0.80936	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	966.36	22	chr2	169157437	.	C	G	966.36	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.172e+00;DP=694;ExcessHet=0.1072;FS=181.219;InbreedingCoeff=-0.1238;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=6.95;ReadPosRankSum=0.116;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,6:37:99:0|1:169157424_C_T:121,0,1282:169157424	14	0	2	5
chr2	169243519	169243519	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon23:c.C3434T:p.S1145L,	Donnai-Barrow syndrome, Autosomal recessive	.	0	1500	20	2	0	24	0.00793651	.	.	732927	not_provided|Donnai-Barrow_syndrome	MedGen:C3661900|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.017	B	0.002	B	0.301	N	1.000	N	1.24	L	-2.61	D	-0.399	T	0.600	D	0.073	1.852	12.15	-3.79	-0.527	3.860	4.010	0.212	.	0.0005	0.00279553	0.0022	0.0003	0.0003	0	0	0.0006	0.0033	0.0131	0.0019017	294	154602	rs140061784	0.0011	0.0011	0.0008	0.0015	0.0135	0.0011	0.0011	0.0128	0.0126	0.0001	0.0002	0.0024	2.52e-05	3.745e-05	0.0029	0.0003	0.0010	0.0135	0.0007	0.0007	0.0006	0.0008	0.0108	0.0006	0.0005	0.0085	0.0076	0.0002	0	0.0001	0.0020	0	0	0	0.0005	0.0019	0.0108	0.219	0.19023	T	0.663	0.06666	T	0.017	0.17573	B	0.001	0.06944	B	0.301449	0.14591	N	0.697984	1	0.08975	N	1.2	0.30300	L	-2.61	0.94693	D	-1.44	0.39887	N	0.121	0.25377	-0.3992	0.72052	T	0.600	0.85744	D	10	0.0049117506	0.00105	T	.	.	.	0.212	0.50341	.	.	0.286597616719	0.28274	0.3095607499958756	0.30869	0.21176551774	0.23675	0.229382842779	0.01923	T	0.13805	0.47133	T	-0.396447	0.02443	T	-0.330569	0.41405	T	0.00840727519537807	0.00102	T	0.226477	0.02994	T	0.037257675	0.04742	0.03612422	0.02998	0.028119758	0.02102	0.04710255	0.06711	-4.564	0.31716	T	0.1891944057478603	0.24740	0.082	0.13456	B	.;.;.	.;.;.	1.351461	0.17589	13.25	0.91386738899726605	0.20652	0.07425	0.13443	N	AEFBI	0.086117	0.17460	N	-1.16989231651685	0.05460	0.248985	-1.19878718289688	0.05931	0.2839949	0.0210823319305635	0.13318	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.84	-3.79	0.04037	3.233000	0.51011	1.403000	0.26213	-0.642000	0.04431	0.157000	0.23755	0.000000	0.08366	0.003000	0.05239	0.6198:0.1197:0.1307:0.1298	4.010	0.09108	898	0.25240	.;.;.	.	.	.	.	.	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	3349.98	41	chr2	169243519	.	G	A	3349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.137;DP=1035;ExcessHet=0.0000;FS=1.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=1.11;SOR=0.576	GT:AD:DP:GQ:PL	0/1:101,129:230:99:3364,0,2446	20	0	1	0
chr2	170466606	170466606	G	A	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon25:c.G2909A:p.R970Q	.	.	429	1086	6	0	1	7	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.061	B	0.015	B	0.129	N	0.998	N	0.95	L	-2.2	D	-0.783	T	0.323	T	0.254	1.830	12.08	2.79	0.268	0.452	7.870	0.134	.	0.0002	0.00159744	0.0009	0.0004	0.0025	0.0001	0	0.0008	0.0044	0.0007	0.0009314	144	154602	rs35169479	0.0008	0.0008	0.0007	0.0008	0.0142	0.0007	0.0007	0.0117	0.0108	0.0006	0.0028	0	7.557e-05	0	0.0142	0.0006	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0057	0.0010	0.0009	0.0047	0.0044	0.0003	0	0.0057	0	0.0002	0	0.0170	0.0008	0.0028	0.0006	0.413	0.13610	T	0.659	0.06533	T	0.006	0.23190	B	0.002	0.17295	B	0.128727	0.18720	N	0.556293	0.998107	0.22348	N	1.125	0.28843	L	-2.2	0.86888	D	-1.24	0.31375	N	0.235	0.26837	-0.7834	0.56110	T	0.323	0.69143	T	10	0.008142799	0.00185	T	.	.	.	0.134	0.36365	.	.	0.808193943808	0.80639	0.17938255528870656	0.17857	0.0864879405707	0.09766	0.244054973125	0.03167	T	0.113048	0.68737	T	-0.380408	0.03097	T	-0.316872	0.42916	T	0.00468234962152995	0.00050	T	0.770523	0.41150	T	0.06649662	0.14312	0.058361154	0.10769	0.06649662	0.14312	0.058361154	0.10769	-7.359	0.56615	T	.	.	0.066	0.03773	B	.;.;.	.;.;.	1.236001	0.16311	12.46	0.98999556298753755	0.50127	0.23319	0.22037	N	AEFDBI	0.129214	0.24730	N	-0.551617342789493	0.20433	1.077107	-0.437994493513972	0.23891	1.305305	0.0109513059057003	0.12108	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.22	2.79	0.31792	0.464000	0.21700	0.163000	0.15428	-0.123000	0.13640	0.057000	0.21666	0.000000	0.08366	0.678000	0.33484	0.4281:0.0:0.5719:0.0	7.870	0.28723	281	0.88893	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	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	1260.98	33	chr2	170466606	.	G	A	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.857;DP=815;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-2.370e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1275,0,1388	20	0	1	0
chr2	174337447	174337473	GGCGGCGGCAGCGGCGGCGGCGGCAGC	-	exonic	SP9	.	nonframeshift deletion	SP9:NM_001145250:exon2:c.1362_1388del:p.A462_A470del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269584019	6.185e-05	5.404e-05	5.652e-05	6.755e-05	0.0004	5.013e-05	4.607e-05	7.959e-05	3.24e-05	0	0.0002	0	0	0.0009	0.0004	2.494e-05	0.0002	0	1.331e-05	1.315e-05	2.6e-05	0	.	2.21e-06	8.3e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1917.05	36	chr2	174337446	.	GGGCGGCGGCAGCGGCGGCGGCGGCAGC	G,GGGCGGCGGCAGC	1917.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=17.92;ReadPosRankSum=-6.980e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/2:21,0,32:53:99:1185,1248,2124,0,875,776	19	0	1	0
chr2	174337459	174337473	GGCGGCGGCGGCAGC	-	exonic	SP9	.	nonframeshift deletion	SP9:NM_001145250:exon2:c.1374_1388del:p.A466_A470del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1917.05	36	chr2	174337446	.	GGGCGGCGGCAGCGGCGGCGGCGGCAGC	G,GGGCGGCGGCAGC	1917.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=17.92;ReadPosRankSum=-6.980e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/2:21,0,32:53:99:1185,1248,2124,0,875,776	19	0	1	0
chr2	178436319	178436319	-	TAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon6:c.576_577insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA:p.T193Efs*4	Dystonia 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1037095	Dystonia_16	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0003	0.0005	0	0.0005	0	0	0.000461	12	26028	.	0.0004	0.0005	0.0003	0.0006	0.0129	0.0004	0.0004	0.0106	0.0097	5.978e-05	8.947e-05	0.0001	0.0007	0.0011	0.0129	0.0004	0.0003	0.0004	0.0010	0.0015	0.0010	0.0010	0.0016	0.0009	0.0008	0.0010	0.0009	0.0005	0.0011	0.0009	0.0006	0.0016	0.0010	0.0068	0.0012	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1646.07	75	chr2	178436319	.	T	TTAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC	1646.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.08;DP=1193;ExcessHet=0.1072;FS=7.603;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.85;ReadPosRankSum=0.217;SOR=0.335	GT:AD:DP:GQ:PL	0/1:67,23:90:99:759,0,2707	19	0	2	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*,	Dystonia 16, Autosomal recessive	.	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10094.64	181	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	10094.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.69;DP=2294;ExcessHet=0.3300;FS=1.952;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-6.762e+00;SOR=0.868	GT:AD:DP:GQ:PL	0/1:135,55:190:99:1879,0,5486	18	0	3	0
chr2	178550237	178550237	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.A64406T:p.D21469V	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	.	.	.	.	.	.	.	.	.	.	56676	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Cardiovascular_phenotype|TTN-related_disorder|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|.|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.991	D	0.864	P	.	.	1.000	D	2.765	M	-0.15	T	0.199	D	0.537	D	0.614	1.998	12.64	5.74	2.317	7.052	16.343	0.471	0.119355227916	0.0008	0.000399361	0.0009	0	0.0002	0	0.0029	0.0013	0	0.0003	0.0008926	138	154602	rs182549226	0.0010	0.0010	0.0010	0.0009	0.0010	0.0009	0.0009	0.0010	0.0010	8.973e-05	0.0002	0	0	0.0036	0.0002	0.0010	0.0004	0.0004	0.0006	0.0006	0.0006	0.0007	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	6.546e-05	0	0	0.0018	0	0.0010	0.0005	0.0006	0.029	0.48186	D	.	.	.	0.991	0.64070	D	0.864	0.61462	P	.	.	.	.	1	0.81001	D	2.325	0.66631	M	-0.54	0.70950	T	-5.21	0.84457	D	0.452	0.59648	0.199	0.85893	D	0.537	0.82868	D	9	0.034935325	0.01720	T	0.119355	0.79963	D	0.471	0.76487	.	.	0.743760114796	0.74146	.	.	0.47277561626	0.46512	0.427034467459	0.28804	T	.	.	.	-0.252765	0.13762	T	-0.154871	0.58810	T	0.11055860818733	0.13481	T	0.927007	0.73102	D	.	.	.	.	.	.	.	.	-8.252	0.62774	D	.	.	0.329	0.55152	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.264027	0.28933	17.96	0.63969966799423339	0.07366	0.99652	0.98359	D	AEFBI	0.907506	0.86161	D	0.674643851832488	0.77971	6.778615	0.605310029458203	0.75324	6.290557	0.999999999659005	0.74766	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	3.429000	0.52567	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:0.0:0.0:1.0	16.343	0.82925	535	0.73288	.;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	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	1	0	0.02381	1908.98	42	chr2	178550237	.	T	A	1908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.170e-01;DP=984;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=1.29;SOR=0.830	GT:AD:DP:GQ:PL	0/1:75,76:151:99:1923,0,1897	20	0	1	0
chr2	178782806	178782806	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon17:c.G2962A:p.V988M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	.	.	.	.	.	.	.	1.0000	1.0	56075	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Primary_dilated_cardiomyopathy|TTN-related_disorder|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Cardiomyopathy|Cardiovascular_phenotype|Tip-toe_gait|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|.|MedGen:CN239352|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.991	D	0.873	P	.	.	1.000	D	0.975	L	0.14	T	-0.662	T	0.312	T	0.697	3.453	17.70	6.17	2.941	7.792	20.879	0.302	0.616460471336	0.0008	0.000399361	0.0010	0	0.0003	0	0.0021	0.0013	0	0.0007	0.0009379	145	154602	rs142951505	0.0010	0.0010	0.0011	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	5.983e-05	0.0003	0	0	0.0028	0.0002	0.0011	0.0005	0.0007	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0001	0	0	0.0013	0	0.0010	0.0005	0.0006	0.041	0.43708	D	0.004	0.74150	D	0.623	0.64070	P	0.525	0.61978	P	.	.	.	.	0.999426	0.51612	D	.	.	.	-0.15	0.65192	T	-1.94	0.52451	N	0.641	0.76019	-0.6625	0.62166	T	0.312	0.68246	T	8	0.046984285	0.03958	T	0.61646	0.96667	D	0.302	0.62290	.	.	0.463157528383	0.45941	.	.	0.188335590607	0.21163	0.490644305944	0.37528	T	.	.	.	-0.178515	0.23955	T	-0.0538277	0.66760	D	0.0447470746144121	0.04555	T	0.970803	0.91380	D	.	.	.	.	.	.	.	.	-7.556	0.58003	D	.	.	0.199	0.42259	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.960830	0.94191	33	0.96827669282607332	0.31252	0.98516	0.83613	D	AEFBI	0.968610	0.99106	D	0.563764598555896	0.70926	5.573547	0.680939127118159	0.80933	7.410401	0.999999999998151	0.74766	0.516011	0.20929	0	0.315538	0.05683	2	0.54472	0.12158	0	0.586402	0.36253	0	.	.	6.17	6.17	0.99707	7.879000	0.85694	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.879	0.99870	361	0.84870	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	941.98	35	chr2	178782806	.	C	T	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.979;SOR=0.719	GT:AD:DP:GQ:PL	0/1:34,31:65:99:956,0,1028	20	0	1	0
chr2	185796083	185796083	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G8947A:p.G2983S,	.	.	436	1070	16	0	0	16	0.00742115	.	.	707890	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.956	N	1.000	N	0	N	1.12	T	-1.013	T	0.046	T	0.461	-2.054	0.006	-1.84	-0.442	-0.236	10.689	0.098	0.0145428648513	.	0.00179712	0.0032	0	0	0	0	0.0073	0.0051	0.0018	0.0008797	136	154602	rs142675481	0.0034	0.0032	0.0034	0.0034	0.0193	0.0033	0.0033	0.0163	0.0152	0.0009	0.0026	0.0144	0	0.0008	0.0193	0.0034	0.0037	0.0019	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0006	0	0.0028	0.0168	0	0.0006	0.0034	0.0036	0.0048	0.0025	0.841	0.02803	T	0.921	0.02864	T	.	.	.	.	.	.	0.956254	0.07688	N	1.019820	1	0.08975	N	1.35	0.33515	L	1.12	0.38718	T	-1.78	0.42001	N	0.118	0.10769	-1.0130	0.25975	T	0.046	0.19879	T	8	0.005519718	0.00122	T	0.014543	0.34724	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.07517808770623123	0.07453	.	.	0.248386114836	0.03599	T	0.052191	0.29091	T	-0.495159	0.00609	T	-0.484182	0.24004	T	0.00956093055494588	0.00124	T	0.570043	0.20293	T	0.030915478	0.02837	0.07118786	0.15215	0.030915478	0.02837	0.07118786	0.15214	-1.606	0.01996	T	.	.	0.088	0.11558	B	.	.	-0.145085	0.03381	0.606	0.40151901440451598	0.02816	0.02581	0.07133	N	AEFHCI	0.044896	0.07278	N	-1.45980862271822	0.02140	0.09420565	-1.52082405954698	0.02184	0.1000747	2.98581108424224E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	-1.84	0.07387	-0.054000	0.11783	1.375000	0.25987	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5665:0.0:0.4335:0.0	10.689	0.45058	756	0.51065	.	.	.	.	.	.	Likely benign	0	0	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	2062.98	104	chr2	185796083	.	G	A	2062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=2060;ExcessHet=0.0000;FS=3.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-1.620e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:70,74:144:99:2077,0,1982	20	0	1	0
chr2	186504214	186504214	G	C	exonic	ZC3H15	.	nonsynonymous SNV	ZC3H15:NM_018471:exon6:c.G717C:p.E239D,	.	.	.	.	.	.	.	.	.	1.0000	0.966	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.935	P	0.411	B	0.000	D	1.000	D	3.3	M	1.06	T	-0.372	T	0.219	T	0.763	3.993	20.5	5.2	2.596	6.625	19.112	0.340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.022	0.57587	D	0.935	0.52277	P	0.411	0.44827	B	0.000000	0.84330	D	0.046544	1	0.81001	D	3.38	0.91446	M	1.06	0.39781	T	-2.56	0.55339	D	0.807	0.80278	-0.3719	0.72903	T	0.219	0.58163	T	10	0.61418194	0.67612	D	0.057279	0.66910	D	0.340	0.66202	0.447	0.50629	0.176862962021	0.17281	0.8371508936038035	0.83675	1.25842597875	0.81969	0.810016155243	0.83495	D	0.52783	0.83605	D	0.134539	0.67800	D	-0.0445212	0.67395	D	0.981274902820587	0.73818	D	0.933007	0.74900	D	0.71572834	0.78924	0.6211325	0.77928	0.71572834	0.78926	0.6211325	0.77929	-8.983	0.67588	D	.	.	0.981	0.91303	P	.	.	6.609620	0.95479	35	0.9976274900218054	0.85172	0.98083	0.79454	D	ALL	0.857353	0.77471	D	0.686265938508068	0.78731	6.931324	0.660652857345304	0.79405	7.075772	1.0	0.98316	0.743674	0.98306	0	0.779548	0.99637	0	0.630245	0.45026	0	0.636	0.56748	0	.	.	5.2	5.2	0.71720	6.745000	0.74658	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.112	0.93305	410	0.82135	ZC3H15/TMA46 family, 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	0.03846	61.07	44	chr2	186504214	.	G	C	61.07	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.222e+00;DP=977;ExcessHet=0.0000;FS=38.965;InbreedingCoeff=0.0602;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.91;SOR=4.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,14:60:71:0|1:186504214_G_C:71,0,898:186504214	12	0	1	8
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|2:46,0,14:60:71:0|1:186504214_G_C:71,203,1139,0,936,898:186504214	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|2:46,0,14:60:71:0|1:186504214_G_C:71,203,1139,0,936,898:186504214	0	0	8	4
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	0/1:52,38:90:99:525,0,838	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	0/2:39,0,8,0:47:29:29,145,949,0,804,780,145,949,804,949	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	0/2:39,0,8,0:47:29:29,145,949,0,804,780,145,949,804,949	2	0	4	0
chr2	217847726	217847726	T	G	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.A2416C:p.N806H	.	.	398	1105	18	1	0	20	0.00896861	.	.	697315	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.162	B	0.121	B	0.987	N	1.000	N	0	N	-2.76	D	-0.498	T	0.474	T	0.045	-0.885	0.470	2.9	0.583	2.205	6.640	0.104	0.0429944531494	0.0012	0.000599042	0.0018	0.0003	0.0012	0	0.0006	0.0020	0.0033	0.0038	0.0017141	265	154602	rs141901890	0.0022	0.0022	0.0021	0.0023	0.0070	0.0022	0.0021	0.0052	0.0047	0.0002	0.0010	0.0008	0	0.0010	0.0070	0.0023	0.0023	0.0042	0.0015	0.0015	0.0015	0.0015	0.0041	0.0013	0.0012	0.0027	0.0023	0.0003	0	0.0007	0.0014	0	0.0010	0	0.0024	0.0005	0.0041	0.217	0.19157	T	0.139	0.33780	T	0.162	0.28404	B	0.121	0.32300	B	0.986698	0.08058	N	0.994171	1	0.08975	N	1.1	0.28011	L	-2.76	0.90904	D	-0.33	0.14390	N	0.238	0.30687	-0.4985	0.68704	T	0.474	0.79784	T	10	0.0075338185	0.00171	T	0.042994	0.60755	D	0.104	0.29647	.	.	0.631036566339	0.62802	0.35266923823291957	0.35180	0.222514327128	0.24783	0.335076749325	0.15699	T	0.045347	0.27096	T	-0.437887	0.01331	T	-0.399437	0.33450	T	0.00503909717186177	0.00054	T	0.737426	0.35417	T	0.05296016	0.09952	0.05846371	0.10808	0.05296016	0.09952	0.05846371	0.10807	-2.723	0.07498	T	.	.	0.069	0.03093	B	.;.;.;.;.;.	.;.;.;.;.;.	2.406268	0.30922	18.58	0.8255103183594763	0.14251	0.75342	0.36884	D	AEFDBCI	0.334560	0.43328	N	-0.71279601441514	0.15661	0.791244	-0.666106537991906	0.17811	0.9486976	0.99997784324916	0.50053	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	4.11	2.9	0.32809	1.378000	0.33935	3.369000	0.37918	0.665000	0.62972	0.859000	0.30595	0.997000	0.33255	0.580000	0.30894	0.0:0.2965:0.0:0.7035	6.640	0.22096	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1426.98	41	chr2	217847726	.	T	G	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=1187;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=1.33;SOR=1.048	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1441,0,1019	20	0	1	0
chr2	232847515	232847515	C	0	exonic	GIGYF2	.	.	.	.	.	20	155	23	3	25	54	0.0855457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2555.11	33	chr2	232847515	.	C	CCG,*	2555.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=2.00;DP=2129;ExcessHet=0.3300;FS=0.797;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.74;ReadPosRankSum=0.403;SOR=0.758	GT:AD:DP:GQ:PL	0/2:66,0,63:129:99:2434,2632,5403,0,2771,2575	18	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	0/2:66,0,63:129:99:.:.:2434,2632,5403,0,2771,2575	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	0/1:66,63,0:129:99:.:.:2434,0,2575,2632,2771,5403	6	4	10	0
chr2	237381337	237381337	G	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.C254G:p.T85S	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1468	50	4	0	58	0.0193721	.	.	100808	not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.67	T	0.542	P	0.444	B	0.015	N	0.801	D	0.82	L	-1.68	D	-0.524	T	0.304	T	0.182	1.025	9.188	3.64	0.627	0.226	10.912	0.115	.	0.0020	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs113897824	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0007	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.385	0.35349	T	0.142	0.36233	T	0.542	0.37927	P	0.279	0.40265	B	0.015240	0.28305	N	0.245514	0.801403	0.34516	D	0.935	0.23595	L	-1.68	0.82897	D	-0.89	0.31981	N	0.197	0.25130	-0.5242	0.67759	T	0.304	0.67464	T	10	0.0041661263	0.00082	T	.	.	.	0.115	0.32236	0.356	0.35734	0.582638149471	0.57935	0.28273255772480255	0.28186	0.244890568272	0.27008	0.279157876968	0.07375	T	0.199684	0.55704	T	-0.400147	0.02310	T	-0.337172	0.40666	T	0.00407187472035348	0.00043	T	0.612239	0.30590	T	0.09517698	0.22393	0.07853483	0.17598	0.079272114	0.18101	0.076297514	0.16884	-3.885	0.30283	T	.	.	0.097	0.18122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.459944	0.18824	13.94	0.95807155714322945	0.27873	0.42820	0.26962	N	AEFBI	0.260702	0.37880	N	-0.69545567415975	0.16151	0.820323	-0.645389732327595	0.18333	0.9788823	0.999450295830064	0.39788	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	3.64	0.40864	0.728000	0.25682	4.383000	0.43188	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.934000	0.47231	0.0:0.2658:0.5963:0.1378	10.912	0.46327	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	3485.98	33	chr2	237381337	.	G	C	3485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.899e+00;DP=882;ExcessHet=0.0000;FS=1.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=-1.220e+00;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,92:191:99:0|1:237381337_G_C:3500,0,3806:237381337	20	0	1	0
chr2	237381341	237381341	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.G250C:p.D84H	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1468	50	4	0	58	0.0193721	.	.	100807	not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.51	T	0.771	P	0.542	P	0.000	D	1.000	D	2.07	M	-1.8	D	-0.225	T	0.445	T	0.629	1.774	11.89	4.4	2.467	0.822	14.505	0.521	.	0.0018	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs112010940	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0006	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.004	0.65419	D	0.002	0.92824	D	0.503	0.37206	P	0.464	0.46572	P	0.000032	0.55875	D	0.000000	0.998002	0.58761	D	1.85	0.49092	L	-1.8	0.83893	D	-2.34	0.80595	N	0.408	0.49420	-0.2252	0.77013	T	0.445	0.78136	T	10	0.004274875	0.00086	T	.	.	.	0.521	0.79643	.	.	0.784802411588	0.78281	0.6835498080276483	0.68293	0.447034461529	0.44568	0.377826780081	0.21948	T	0.278705	0.76907	T	-0.214431	0.18760	T	-0.0704044	0.65597	T	0.0245525690017757	0.01215	T	0.836716	0.57527	T	0.35974628	0.57816	0.34155858	0.59894	0.38446113	0.59638	0.3216856	0.58114	-8.526	0.64641	D	.	.	0.380	0.62162	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.134648	0.42367	21.5	0.98249625934338536	0.39558	0.68644	0.33880	D	AEFBI	0.566125	0.57223	D	-0.210755514957118	0.32693	1.846463	-0.18538953988746	0.32072	1.821115	0.999997813254138	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.31	4.4	0.52402	3.131000	0.50210	1.849000	0.29243	0.599000	0.40250	0.769000	0.29345	0.941000	0.28781	0.945000	0.48827	0.0:0.7252:0.2748:0.0	14.505	0.67332	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	3467.98	33	chr2	237381341	.	C	G	3467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.867e+00;DP=882;ExcessHet=0.0000;FS=1.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.35;ReadPosRankSum=-1.215e+00;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,91:189:99:0|1:237381337_G_C:3482,0,3787:237381337	20	0	1	0
chr2	238130627	238130627	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G809A:p.R270Q	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.824	P	0.086	B	0.012	N	0.954	N	1.845	L	0.87	T	-0.838	T	0.172	T	0.159	2.006	12.66	3.01	0.540	2.740	7.787	0.077	0.0657890379684	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947721839	1.773e-05	1.915e-05	1.122e-05	2.439e-05	5.405e-05	1.217e-05	1.028e-05	1.119e-05	9.02e-06	0	2.697e-05	0	5.405e-05	0	0	1.75e-05	1.71e-05	2.486e-05	3.943e-05	3.94e-05	5.139e-05	2.69e-05	0.0003	1.715e-05	1.129e-05	0.0001	8.283e-05	0	0	0.0003	0	0	0	0	1.471e-05	0	0	0.009	0.59928	D	0.182	0.29540	T	0.73	0.45836	P	0.04	0.29521	B	0.011541	0.29496	N	0.261990	0.965156	0.26402	N	2.07	0.56829	M	-0.24	0.66834	T	-1.71	0.44657	N	0.058	0.04790	-0.8375	0.52812	T	0.172	0.51484	T	10	0.10705948	0.19867	T	0.065789	0.69684	D	0.077	0.22490	.	.	0.165133752707	0.16062	0.34538022969149057	0.34452	0.150010058639	0.16919	0.341031819582	0.16593	T	0.032108	0.22343	T	-0.061901	0.42609	T	-0.326693	0.41837	T	0.310074150562286	0.25417	T	0.653735	0.26383	T	0.11150636	0.26351	0.1562377	0.36589	0.11150636	0.26350	0.1562377	0.36588	-3.477	0.18803	T	.	.	0.077	0.09288	B	.;.;.	.;.;.	1.159456	0.15481	11.88	0.99625630270561771	0.75716	0.49490	0.28445	N	AEFDBI	0.377695	0.46137	N	-0.407265961646257	0.25215	1.367113	-0.50763724129869	0.21945	1.189599	0.999741143103389	0.42466	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.98	3.01	0.33872	1.979000	0.40231	1.094000	0.24007	0.614000	0.49286	0.024000	0.20007	0.000000	0.08366	0.002000	0.04165	0.1393:0.0:0.8607:0.0	7.787	0.28263	969	0.06854	.;.;.	.	.	.	.	.	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	837.98	37	chr2	238130627	.	G	A	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.414;DP=900;ExcessHet=0.0000;FS=0.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=1.42;SOR=0.531	GT:AD:DP:GQ:PL	0/1:35,36:71:99:852,0,779	20	0	1	0
chr2	240045709	240045709	G	A	exonic	OR6B3	.	nonsynonymous SNV	OR6B3:NM_173351:exon1:c.C364T:p.R122C,	.	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.218	B	0.066	B	0.000	D	1.000	D	2.515	M	-1.09	T	-0.115	T	0.422	T	0.572	2.807	15.35	3.96	2.471	3.810	14.327	0.458	0.00964350842777	.	.	0.0003	0	0	0.0010	0	0.0003	0	0.0004	3.84e-05	1	26028	rs199947939	0.0001	0.0001	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	7.01e-05	0	0.0005	5.699e-05	0.0004	9.95e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0004	0	0	0	0	0.0001	0.0005	0.0004	0.009	0.57480	D	0.0	0.92824	D	0.218	0.30213	B	0.066	0.27432	B	0.000221	0.47681	D	0.000000	0.999815	0.49394	D	2.55	0.74443	M	-1.09	0.77206	T	-6.79	0.92863	D	0.234	0.26354	-0.1151	0.79749	T	0.422	0.76710	T	10	0.18081683	0.33283	T	0.009644	0.25199	T	0.458	0.75619	.	.	0.921780773804	0.92098	0.8418669633792113	0.84146	1.19150631811	0.80291	0.244575038552	0.03218	T	0.118567	0.43948	T	-0.19024	0.22224	T	-0.151359	0.59123	T	0.13862239485144	0.16156	T	0.822518	0.48242	T	0.34686038	0.56821	0.45574844	0.68361	0.34686038	0.56822	0.45574844	0.68362	-6.312	0.48817	T	.	.	0.198	0.42126	B	.;.	.;.	3.905732	0.56920	23.8	0.99772772311824798	0.86088	0.95385	0.64513	D	AEFDGBI	0.644703	0.62086	D	0.156598630829419	0.49124	3.116414	0.224790299335864	0.51227	3.307041	0.94509557818108	0.27645	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.96	3.96	0.45097	3.391000	0.52271	-0.000000	0.13247	0.669000	0.69127	1.000000	0.71638	0.000000	0.08366	0.819000	0.38590	0.0:0.0:1.0:0.0	14.327	0.66084	976	0.04745	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	1422.98	72	chr2	240045709	.	G	A	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=1261;ExcessHet=0.0000;FS=3.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.23;MQRankSum=1.79;QD=18.97;ReadPosRankSum=-8.200e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1437,0,912	20	0	1	0
chr2	240757497	240757497	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379632:exon26:c.G2629A:p.D877N	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	405679	Inborn_genetic_diseases|Hereditary_spastic_paraplegia_30|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.924	D	.	.	1.000	D	.	.	-0.71	T	-0.226	T	0.486	T	0.098	3.570	18.20	4.69	2.163	6.265	17.592	0.193	0.743041971239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1064796756	2.646e-05	2.531e-05	2.822e-05	2.465e-05	0.0011	1.953e-05	1.705e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0011	1.205e-05	0.0002	5.051e-05	2.63e-05	2.627e-05	5.14e-05	0	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.386	0.12109	T	0.391	0.15456	T	0.82	0.45712	P	0.202	0.36942	B	.	.	.	.	0.992559	0.81001	D	.	.	.	-0.71	0.73631	T	-1.38	0.34198	N	0.588	0.60833	-0.2257	0.77001	T	0.486	0.80415	T	8	0.332722	0.50474	T	0.743042	0.97944	D	0.193	0.47281	0.165	0.06955	0.58525841101	0.58198	0.6369553338975968	0.63629	0.727998351908	0.62593	0.797436118126	0.81573	T	.	.	.	-0.244113	0.14829	T	-0.394779	0.33994	T	0.618377268314362	0.37139	D	0.975302	0.91743	D	.	.	.	.	.	.	.	.	-6.171	0.48125	T	.	.	0.097	0.22135	B	.;.;.;.	.;.;.;.	4.572269	0.72147	25.8	0.99844460086670195	0.92489	0.90947	0.52564	D	AEFDBHCI	0.804583	0.72940	D	0.370735864074703	0.59842	4.16714	0.410842131006571	0.62240	4.436045	0.99999999717325	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.575934	0.27490	0	0.562822	0.20929	0	.	.	4.69	4.69	0.58546	6.377000	0.73077	2.610000	0.33572	0.579000	0.29447	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.592	0.87900	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	0	0	0	0	0.02381	1493.98	36	chr2	240757497	.	C	T	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.025;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-1.413e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:44,56:100:99:1508,0,1114	20	0	1	0
chr2	241236668	241236668	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2752G:p.I918V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.999	D	0.988	D	0.000	N	1.000	D	2.16	M	1.75	T	-0.986	T	0.138	T	0.238	3.800	19.30	4.54	0.993	7.573	11.443	0.136	0.0178532886134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.27783	T	0.053	0.47336	T	.	.	.	.	.	.	0.000000	0.84330	N	0.047041	1	0.81001	D	.	.	.	1.75	0.26152	T	-0.79	0.21860	N	0.571	0.60410	-0.9863	0.33518	T	0.138	0.45508	T	10	0.4313547	0.57511	T	0.017853	0.39707	T	0.136	0.36778	0.604	0.73586	0.102598925029	0.09809	0.5707151157732244	0.56999	1.41316520035	0.85479	0.744052290916	0.73568	T	.	.	.	-0.134706	0.30738	T	-0.431273	0.29791	T	0.911651909351349	0.56729	D	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.58646	B	.;.;.;.	.;.;.;.	3.797468	0.54692	23.5	0.99854856080392396	0.93368	0.97069	0.72509	D	AEFBHCI	0.910516	0.86853	D	0.50443120992409	0.67350	5.070105	0.493763495683185	0.67576	5.10254	0.99999987350005	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	4.54	0.55220	7.605000	0.82070	4.997000	0.46569	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0702:0.0:0.9298	11.443	0.49349	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	105.33	38	chr2	241236668	.	T	C	105.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.114e+00;DP=1499;ExcessHet=0.0000;FS=90.801;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=2.41;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,23:204:99:0|1:241236668_T_C:119,0,7098:241236668	19	0	1	1
chr2	241236671	241236671	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2749G:p.I917V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.008	B	0.05	B	0.000	D	1.000	D	1.055	L	1.64	T	-1.079	T	0.060	T	0.176	1.913	12.36	5.69	2.162	5.703	15.945	0.104	0.00708499722395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.10945	T	0.588	0.08273	T	.	.	.	.	.	.	0.000003	0.62929	D	0.103999	0.999869	0.50061	D	.	.	.	1.64	0.27822	T	-0.27	0.11366	N	0.081	0.06059	-1.0791	0.07524	T	0.060	0.25018	T	10	0.13013917	0.24765	T	0.007085	0.18759	T	0.104	0.29647	0.473	0.54859	0.0675242888579	0.06100	0.1899094645372865	0.18908	0.593740435929	0.54712	0.623579800129	0.56235	T	.	.	.	-0.189155	0.22383	T	-0.509484	0.21368	T	0.594890356063843	0.36198	D	0.852615	0.53799	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01934	B	.;.;.;.	.;.;.;.	2.687292	0.35067	19.80	0.98643433493941868	0.44082	0.90408	0.51560	D	AEFBHCI	0.629641	0.61128	D	-0.121948295283556	0.36437	2.106196	0.0950216894630602	0.44297	2.714263	0.999999976924614	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	5.729000	0.68186	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.945	0.79573	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	113.1	38	chr2	241236671	.	T	C	113.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.420e+00;DP=2007;ExcessHet=0.0000;FS=94.376;InbreedingCoeff=-0.0640;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=1.88;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,24:205:99:0|1:241236668_T_C:126,0,7095:241236668	17	0	1	3
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	0/2:33,13,28:76:99:586,288,1300,0,463,567	0	0	1	0
chr2	241633855	241633855	C	T	exonic	THAP4	.	nonsynonymous SNV	THAP4:NM_015963:exon2:c.G302A:p.R101Q,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.968	D	0.242	B	0.016	N	0.843	N	0.895	L	-4.07	D	0.206	D	0.757	D	0.315	5.274	33	3.04	1.154	1.499	8.401	0.284	0.0558348576798	0.0002	.	0.0001	0	0	0	0	0.0002	0	6.072e-05	0.0001035	16	154602	rs201501683	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.987e-05	4.473e-05	3.828e-05	0.0004	0	0.0002	0.0002	0.0002	4.638e-05	7.227e-05	7.223e-05	3.854e-05	0.0001	0.0002	3.971e-05	3.127e-05	6.804e-05	5.087e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.015	0.52492	D	0.011	0.64786	D	0.968	0.56581	D	0.242	0.38699	B	0.015752	0.01424	N	3.218300	0.999402	0.21245	N	2.34	0.67151	M	-4.07	0.96562	D	-0.52	0.16187	N	0.341	0.38232	0.206	0.86006	D	0.757	0.91728	D	10	0.20320198	0.36467	T	0.055835	0.66381	D	0.284	0.60219	.	.	0.900634174194	0.89964	0.4523242517859586	0.45150	1.00385032148	0.74511	0.567533135414	0.48329	T	0.046945	0.27575	T	-0.0837742	0.39098	T	-0.0577884	0.66487	T	0.137637613595483	0.16070	T	0.816118	0.47137	T	0.048826635	0.08572	0.05280777	0.08771	0.048826635	0.08572	0.05280777	0.08771	-3.689	0.19156	T	.	.	0.113	0.22171	B	.	.	3.625760	0.51336	23.1	0.99924519232127706	0.98980	0.46856	0.27853	N	AEFBI	0.189566	0.31681	N	-0.213211741871998	0.32591	1.839649	-0.257240147547787	0.29522	1.65469	0.999936116465331	0.46732	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	3.04	0.34171	1.581000	0.36167	3.167000	0.36595	0.599000	0.40250	0.427000	0.26385	0.677000	0.26099	0.795000	0.37519	0.0:0.7604:0.1567:0.083	8.401	0.31747	970	0.06235	.	.	.	.	.	.	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	1343.98	42	chr2	241633855	.	C	T	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=897;ExcessHet=0.0000;FS=2.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=1.61;SOR=0.439	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1358,0,1153	20	0	1	0
chr3	9910943	9910943	G	A	exonic	IL17RE	.	nonsynonymous SNV	IL17RE:NM_153481:exon7:c.G533A:p.R178H	.	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.987	D	0.019	N	0.786	D	2.08	M	2.35	T	-0.884	T	0.080	T	0.719	3.997	20.5	4.74	2.174	1.792	14.439	0.161	0.0092516279578	0.0055	0.000599042	0.0042	0.0009	0.0025	0	0.0024	0.0062	0.0011	0.0028	0.0044372	686	154602	rs144937970	0.0069	0.0069	0.0071	0.0067	0.0082	0.0067	0.0067	0.0081	0.0080	0.0010	0.0030	0.0014	5.038e-05	0.0015	0.0040	0.0082	0.0054	0.0031	0.0047	0.0047	0.0048	0.0045	0.0078	0.0044	0.0043	0.0072	0.0070	0.0013	0	0.0056	0.0012	0.0002	0.0013	0	0.0078	0.0052	0.0031	0.165	0.43393	T	0.0	0.92824	D	1.0	0.90584	D	0.972	0.77487	D	0.019050	0.27344	N	0.387299	0.785971	0.34326	D	2.015	0.55033	M	2.35	0.16217	T	-1.98	0.47683	N	0.095	0.09207	-0.8843	0.49415	T	0.080	0.31615	T	10	0.015896738	0.00334	T	0.009252	0.24296	T	0.161	0.41658	.	.	0.682607719403	0.67990	0.5251094156886731	0.52434	.	.	0.274772167206	0.06774	T	0.012711	0.11127	T	-0.34585	0.04992	T	-0.261604	0.48664	T	0.025151637208932	0.01293	T	0.789321	0.42944	T	0.066204816	0.14223	0.06053735	0.11545	0.066204816	0.14223	0.06053735	0.11545	-5.999	0.46271	T	.	.	0.093	0.13830	B	.;.;.	.;.;.	3.268665	0.44732	22.0	0.99949576778901561	0.99938	0.85214	0.44327	D	AEFDBI	0.395222	0.47217	N	0.576383706353443	0.71702	5.691281	0.5308710993687	0.70079	5.452564	0.999999999183161	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	4.74	0.59717	1.835000	0.38821	1.959000	0.29928	0.618000	0.50648	1.000000	0.71638	0.931000	0.28545	0.987000	0.62547	0.0:0.0:1.0:0.0	14.439	0.66876	653	0.62661	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, 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	1738.98	45	chr3	9910943	.	G	A	1738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.616;DP=854;ExcessHet=0.0000;FS=4.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=1.42;SOR=1.061	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1753,0,1688	20	0	1	0
chr3	14146135	14146135	C	T	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon15:c.G2050A:p.D684N	Xeroderma pigmentosum, group C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.007	B	0.004	B	0.319	N	1.000	N	0.805	L	1.28	T	-1.007	T	0.051	T	0.044	2.394	13.96	1.82	0.047	0.694	7.211	0.018	0.0186018964205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	1.368e-06	1.364e-06	0	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.09836	T	0.04	0.50809	D	0.007	0.14184	B	0.002	0.06944	B	0.318895	0.14305	N	0.694088	1	0.08975	N	1.085	0.27262	L	1.27	0.36146	T	-0.66	0.19085	N	0.082	0.05799	-1.0073	0.27758	T	0.051	0.21728	T	10	0.052864164	0.05388	T	0.018602	0.40717	T	0.018	0.03083	0.193	0.10437	0.0884992946249	0.08302	0.1980215953506564	0.19719	0.115934735374	0.13078	0.422035574913	0.28116	T	0.100571	0.40649	T	-0.306048	0.08101	T	-0.677393	0.07144	T	0.0486250296235085	0.05255	T	0.59684	0.22194	T	0.047759935	0.08218	0.028889628	0.01168	0.047759935	0.08217	0.028889628	0.01168	-5.097	0.37876	T	0.2998121231110921	0.39711	0.088	0.11606	B	.	.	1.275762	0.16750	12.74	0.9846767077370695	0.41814	0.17217	0.19740	N	AEFDBCI	0.059805	0.11321	N	-0.897631626381775	0.10898	0.5231294	-0.865054614978838	0.12926	0.6677483	0.999975057040769	0.50053	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.62	1.82	0.24209	1.152000	0.31275	0.143000	0.15197	0.545000	0.25583	0.001000	0.13787	0.000000	0.08366	0.765000	0.36330	0.0:0.5773:0.2792:0.1434	7.211	0.25111	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	951.98	38	chr3	14146135	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=974;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.914;SOR=0.798	GT:AD:DP:GQ:PL	0/1:48,38:86:99:966,0,1213	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|1:172,83:255:99:0|1:15003967_C_G:665,0,4716:15003967	8	0	12	1
chr3	20140317	20140317	C	T	exonic	KAT2B	.	nonsynonymous SNV	KAT2B:NM_003884:exon13:c.C1957T:p.R653W,	.	.	428	1062	31	1	0	33	0.015299	.	.	3206732	KAT2B-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.996	D	0.451	P	0.004	N	0.807	D	2.515	M	1.91	T	-0.945	T	0.054	T	0.256	3.322	17.17	3.34	1.424	3.038	6.643	0.141	.	0.0036	0.00159744	0.0034	0.0007	0.0011	0	0.0008	0.0049	0.0132	0.0027	0.0033247	514	154602	rs116196143	0.0034	0.0034	0.0033	0.0034	0.0109	0.0033	0.0032	0.0087	0.0079	0.0005	0.0015	0.0182	5.038e-05	0.0008	0.0109	0.0033	0.0044	0.0038	0.0023	0.0023	0.0024	0.0022	0.0033	0.0021	0.0020	0.0027	0.0026	0.0005	0	0.0019	0.0179	0.0002	0.0003	0.0034	0.0031	0.0043	0.0033	0.085	0.32769	T	0.107	0.37730	T	0.996	0.68779	D	0.451	0.46123	P	0.003954	0.34294	N	0.381500	0.807127	0.34590	D	2.565	0.75005	M	1.91	0.23283	T	-5.62	0.86758	D	0.392	0.43320	-0.9454	0.41748	T	0.054	0.22997	T	10	0.012265682	0.00264	T	.	.	.	0.141	0.37795	.	.	0.287411543184	0.28351	0.7273030285561954	0.72674	0.916642512623	0.71263	0.370670676231	0.20928	T	0.840931	0.96290	D	-0.495169	0.00609	T	-0.48406	0.24015	T	0.0689269644871812	0.08499	T	0.987301	0.95681	D	0.37912828	0.59254	0.1573653	0.36800	0.37912828	0.59254	0.1573653	0.36799	-10.961	0.79444	D	.	.	0.238	0.47239	B	.	.	4.116573	0.61501	24.3	0.99855882320124989	0.93458	0.85128	0.44235	D	AEFI	0.418356	0.48602	N	0.37314403849247	0.59970	4.181216	0.338402836118541	0.57811	3.948447	0.982835378379117	0.30462	0.638212	0.43195	0	0.653731	0.59785	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.41	3.34	0.37357	2.554000	0.45507	1.830000	0.29108	0.599000	0.40250	0.981000	0.35396	0.865000	0.27529	0.740000	0.35438	0.3738:0.5337:0.0:0.0925	6.643	0.22113	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	909.98	38	chr3	20140317	.	C	T	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.612;SOR=0.677	GT:AD:DP:GQ:PL	0/1:35,39:74:99:924,0,801	20	0	1	0
chr3	27722024	27722024	T	G	exonic	EOMES	.	nonsynonymous SNV	EOMES:NM_001278182:exon1:c.A271C:p.S91R	.	.	345	1169	8	0	0	8	0.00341006	.	.	720389	not_provided|EOMES-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.003	B	0.009	N	0.955	D	0	N	-2.26	D	-0.743	T	0.420	T	0.082	0.837	8.380	3.95	1.655	0.502	9.145	0.254	0.726995101292	.	0.000399361	0.0029	0.0049	0	0	.	0.0048	0	0.0023	0.0003881	60	154602	rs529375594	0.0016	0.0015	0.0016	0.0016	0.0092	0.0015	0.0015	0.0071	0.0064	0.0004	0.0009	0.0059	3.055e-05	0.0004	0.0092	0.0015	0.0020	0.0024	0.0013	0.0013	0.0014	0.0012	0.0025	0.0011	0.0011	0.0016	0.0015	0.0004	0	0.0007	0.0055	0	0.0002	0.0103	0.0018	0.0038	0.0025	0.108	0.29420	T	0.573	0.10209	T	0.0	0.02946	B	0.0	0.01387	B	0.008640	0.01214	N	2.508740	0.955032	0.37906	D	-0.205	0.04094	N	-2.26	0.87433	D	-0.61	0.18042	N	0.123	0.17140	-0.7426	0.58319	T	0.420	0.76583	T	10	0.0067224205	0.00152	T	0.726995	0.97799	D	0.254	0.56428	0.314	0.28935	0.291402777868	0.28757	0.43889294874286017	0.43806	0.669915434888	0.59380	0.905077457428	0.96983	D	0.379502	0.74224	T	-0.422847	0.01641	T	-0.385715	0.35053	T	0.0163182275826269	0.00402	T	0.591441	0.21800	T	0.23035918	0.45790	0.3160335	0.57586	0.23035918	0.45790	0.3160335	0.57585	-5.267	0.39705	T	.	.	0.504	0.66441	A	.;.	.;.	2.287400	0.29252	18.06	0.95398298736680898	0.26846	0.23957	0.22242	N	ALL	0.145234	0.26839	N	-0.473406596401646	0.22955	1.229304	-0.30279825947541	0.28008	1.558316	0.999999953616338	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.95	3.95	0.44952	0.774000	0.26337	0.310000	0.17073	0.576000	0.29215	0.033000	0.20612	0.998000	0.33993	0.993000	0.69303	0.0:0.0:0.0:1.0	9.145	0.36092	906	0.23090	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	293.98	33	chr3	27722024	.	T	G	293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.019e+00;DP=743;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.44;ReadPosRankSum=-6.800e-02;SOR=0.365	GT:AD:DP:GQ:PL	0/1:39,15:54:99:308,0,1150	20	0	1	0
chr3	31990403	31990403	G	A	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.G1324A:p.V442I,	.	.	406	1093	22	1	0	24	0.0108597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.956	P	0.939	D	.	.	1.000	P	1	L	2.17	T	-1.059	T	0.001	T	0.043	0.179	4.964	0.336	0.385	0.236	.	0.025	.	0.0009	0.0393371	0.0148	0.0013	0.0068	0.1224	0.0079	0.0013	0.0100	0.0331	0.013538	2093	154602	rs79295539	0.0056	0.0056	0.0048	0.0063	0.1019	0.0054	0.0054	0.0992	0.0981	0.0010	0.0055	0	0.1019	0.0083	0.0087	0.0006	0.0084	0.0283	0.0055	0.0056	0.0043	0.0066	0.0923	0.0051	0.0050	0.0849	0.0820	0.0010	0.0022	0.0050	0	0.0923	0.0081	0.0103	0.0008	0.0082	0.0279	0.126	0.27194	T	0.259	0.23097	T	0.956	0.54666	P	0.939	0.67449	D	.	.	.	.	1	0.08975	P	0.49	0.13296	N	2.17	0.19020	T	-0.75	0.21003	N	0.005	0.00034	-1.0590	0.12007	T	0.001	0.00318	T	6	0.002504468	0.00038	T	.	.	.	0.025	0.05312	.	.	.	.	0.014765551030179415	0.01433	0.144387688307	0.16313	0.29153418541	0.09145	T	0.003645	0.03050	T	-0.753551	0.00017	T	-0.768347	0.02823	T	0.0157454019745825	0.00365	T	0.454055	0.12934	T	0.07960745	0.18197	0.07611527	0.16827	0.07960745	0.18197	0.07611527	0.16827	-3.775	0.20432	T	.	.	0.109	0.20896	B	.	.	1.030601	0.14106	10.68	0.94573514009708215	0.25110	0.00465	0.02234	N	AEFBCI	0.015932	0.00328	N	-0.548754751026196	0.20522	1.082491	-0.838316985830647	0.13568	0.7046228	0.810192789762887	0.24341	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	0.336	0.336	0.15198	-0.504000	0.06456	-9.826000	0.00772	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	.	.	.	946	0.12043	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3665.98	33	chr3	31990403	.	G	A	3665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.290e-01;DP=1785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.60;MQRankSum=-2.596e+00;QD=13.19;ReadPosRankSum=0.465;SOR=0.717	GT:AD:DP:GQ:PL	0/1:135,143:278:99:3680,0,3454	20	0	1	0
chr3	32441982	32441982	G	A	exonic	CMTM7	.	nonsynonymous SNV	CMTM7:NM_138410:exon2:c.G302A:p.R101H	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.988	D	0.003	N	0.591	N	2.19	M	1.73	T	-0.822	T	0.145	T	0.487	4.624	25.3	4.62	2.598	1.355	12.666	0.173	0.0141030235823	.	0.000998403	0.0004	9.612e-05	0	0.0030	0	7.497e-05	0	0.0007	0.0003105	48	154602	rs117098616	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0022	0.0020	0	0	0	0.0026	0	0	7.014e-05	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	0.0041	0.0002	0.0001	0.0027	0.0023	7.224e-05	0	0.0002	0	0.0041	0	0	7.351e-05	0	0.0004	0.137	0.61437	T	0.045	0.69154	D	0.972	0.57405	D	0.508	0.47889	P	0.003168	0.35330	N	0.255097	0.591321	0.31017	N	1.735	0.44892	L	1.73	0.26445	T	-2.98	0.76980	D	0.245	0.36674	-0.8222	0.53796	T	0.145	0.46895	T	10	0.007691711	0.00175	T	0.014103	0.33987	T	0.173	0.43840	.	.	0.467416895013	0.46368	0.2723671689394428	0.27149	0.683648424317	0.60180	0.394364714622	0.24283	T	0.056501	0.30306	T	-0.418102	0.01759	T	-0.373359	0.36496	T	0.122786092756153	0.14700	T	0.938306	0.76795	D	0.060439833	0.12401	0.06313402	0.12461	0.060439833	0.12400	0.06313402	0.12461	-8.375	0.63599	D	.	.	0.093	0.49969	B	.;.;.	.;.;.	4.090649	0.60926	24.3	0.9995462868072118	0.99969	0.76988	0.37806	D	AEFDBI	0.285922	0.39843	N	0.513610046158146	0.67895	5.143022	0.500281240433615	0.68012	5.161408	0.999999522487534	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.5	4.62	0.56946	1.293000	0.32959	3.885000	0.40262	0.618000	0.50648	0.925000	0.32113	1.000000	0.68203	0.815000	0.38403	0.0812:0.0:0.9188:0.0	12.666	0.56206	866	0.32446	Marvel domain|Marvel domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	34	chr3	32441982	.	G	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.000e-03;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-1.063e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1220,0,1182	20	0	1	0
chr3	37012090	37012090	C	T	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001354629:exon7:c.C569T:p.A190V	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	483577	Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Colorectal_cancer,_hereditary_nonpolyposis,_type_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.567	P	0.366	B	0.000	D	1.000	D	2.57	M	-2.82	D	0.603	D	0.741	D	0.741	4.248	22.1	4.88	2.736	5.702	14.207	0.726	0.0749329687328	.	.	2.477e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs756045117	1.44e-05	1.71e-05	4.094e-06	2.48e-05	0.0002	9.25e-06	7.85e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.658e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.17	0.38891	T	0.169	0.28678	B	0.178	0.35748	B	0.000008	0.62929	D	0.109676	1	0.81001	D	2.86	0.83026	M	-2.82	0.91192	D	-2.3	0.51157	N	0.435	0.48689	0.603	0.91943	D	0.741	0.91163	D	10	0.40252653	0.55667	T	0.074933	0.72164	D	0.726	0.90369	0.54	0.65161	0.898972531329	0.89797	0.5466586471506504	0.54591	0.102845666974	0.11638	0.612879633904	0.54722	T	0.690939	0.91013	D	0.0932745	0.63555	D	0.155885	0.80553	D	0.833164870738983	0.48778	D	0.964204	0.87634	D	0.40150243	0.60836	0.37823826	0.62906	0.40150243	0.60837	0.37823826	0.62906	-5.73	0.53181	T	0.25121524083131136	0.33995	0.096	0.16800	B	.;.	.;.	4.235274	0.64170	24.7	0.99831333125424948	0.91284	0.97837	0.77499	D	AEFBI	0.747239	0.68936	D	0.42868007069212	0.63005	4.526162	0.515356190392626	0.69022	5.301403	0.999999928680741	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.76	4.88	0.63131	5.820000	0.68932	5.832000	0.50172	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9287:0.0:0.0713	14.207	0.65281	253	0.90069	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, 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	0.02381	1868.98	39	chr3	37012090	.	C	T	1868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.488e+00;DP=920;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-2.430e-01;SOR=0.561	GT:AD:DP:GQ:PL	0/1:109,81:190:99:1883,0,2867	20	0	1	0
chr3	38603939	38603939	C	T	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon12:c.G1663A:p.E555K	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	0	1521	1	0	0	1	0.000328623	.	.	78571	Brugada_syndrome_1|Cardiac_arrhythmia|Cardiovascular_phenotype|not_provided|Brugada_syndrome	MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.040	N	1.000	D	2.755	M	-3.06	D	0.954	D	0.877	D	0.635	4.457	23.8	4.27	2.205	2.972	16.884	0.629	0.460083615958	.	0.000599042	4.995e-05	0.0004	0	0	0	0	0	0.0001	5.82e-05	9	154602	rs199473123	1.163e-05	1.163e-05	4.084e-06	1.925e-05	0.0002	7.09e-06	5.79e-06	4.579e-05	3.272e-05	5.974e-05	0	0	0	0	0.0002	4.497e-06	1.656e-05	9.275e-05	5.252e-05	5.249e-05	3.854e-05	6.714e-05	0.0002	2.555e-05	1.829e-05	6.266e-05	4.289e-05	0.0001	0	0	0	0.0002	0	0	0	0	0.0002	0.037	0.44358	D	0.083	0.42086	T	0.898	0.90584	P	0.195	0.83170	B	0.039749	0.24136	N	0.415067	0.999964	0.52935	D	2.465	0.71551	M	-3.06	0.92457	D	-3.05	0.62976	D	0.631	0.64478	0.954	0.96461	D	0.877	0.95921	D	10	0.27615353	0.45176	T	0.460084	0.94497	D	0.629	0.85718	.	.	0.75324006212	0.75100	0.8092902317948784	0.80884	0.551235762849	0.51968	0.533882558346	0.43582	T	0.69098	0.91014	D	-0.0116025	0.50042	T	0.0417496	0.73041	D	0.196749794771194	0.20235	T	0.922308	0.71764	D	0.22400846	0.45033	0.20896205	0.45220	0.26502788	0.49571	0.19445482	0.43069	-8.489	0.64396	D	.	.	0.127	0.28863	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.596498	0.50782	23.0	0.99932211864686404	0.99439	0.89287	0.49661	D	AEFDBI	0.707125	0.66196	D	0.449145083205835	0.64155	4.663737	0.40094875477072	0.61625	4.365141	0.999999999993327	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.27	4.27	0.50009	3.746000	0.54846	5.823000	0.50099	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:1.0:0.0:0.0	16.884	0.85936	721	0.55360	Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2996.98	38	chr3	38603939	.	C	T	2996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=971;ExcessHet=0.0000;FS=1.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.660;SOR=0.830	GT:AD:DP:GQ:PL	0/1:116,109:225:99:3011,0,2715	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/4:0,45,0,0,35,0,0:82:99:3652,1507,1348,3539,1500,3525,3539,1500,3525,3525,1906,0,1903,1903,1775,3539,1500,3525,3525,1903,3525,3539,1500,3525,3525,1903,3525,3525	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	1/4:0,45,0,0,35,0,0:82:99:3652,1507,1348,3539,1500,3525,3539,1500,3525,3525,1906,0,1903,1903,1775,3539,1500,3525,3525,1903,3525,3539,1500,3525,3525,1903,3525,3525	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	1/4:0,45,0,0,35,0,0:82:99:3652,1507,1348,3539,1500,3525,3539,1500,3525,3525,1906,0,1903,1903,1775,3539,1500,3525,3525,1903,3525,3539,1500,3525,3525,1903,3525,3525	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	1/4:0,45,0,0,35,0,0:82:99:3652,1507,1348,3539,1500,3525,3539,1500,3525,3525,1906,0,1903,1903,1775,3539,1500,3525,3525,1903,3525,3539,1500,3525,3525,1903,3525,3525	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	1/4:0,45,0,0,35,0,0:82:99:3652,1507,1348,3539,1500,3525,3539,1500,3525,3525,1906,0,1903,1903,1775,3539,1500,3525,3525,1903,3525,3539,1500,3525,3525,1903,3525,3525	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	0/1:59,52,0,0,0:111:99:1909,0,2242,2086,2400,4486,2086,2400,4486,4486,2086,2400,4486,4486,4486	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	0/1:59,52,0,0,0:111:99:1909,0,2242,2086,2400,4486,2086,2400,4486,4486,2086,2400,4486,4486,4486	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	0/1:59,52,0,0,0:111:99:1909,0,2242,2086,2400,4486,2086,2400,4486,4486,2086,2400,4486,4486,4486	1	3	1	0
chr3	45089073	45089073	T	C	exonic	CDCP1	.	nonsynonymous SNV	CDCP1:NM_022842:exon8:c.A2062G:p.I688V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.037	B	0.05	B	0.094	N	1.000	D	1.065	L	0.97	T	-1.100	T	0.066	T	0.217	0.624	7.354	3.32	1.004	0.579	7.268	0.029	0.00442728134996	.	0.000199681	5.816e-05	0	8.75e-05	0	0	0	0	0.0004	5.82e-05	9	154602	rs532733195	2.326e-05	2.326e-05	1.906e-05	2.75e-05	0.0003	1.674e-05	1.477e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0	8.993e-07	4.967e-05	0.0003	6.58e-06	6.566e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.754	0.03544	T	0.588	0.08273	T	0.037	0.20876	B	0.05	0.25278	B	0.093962	0.20197	N	0.561095	0.898654	0.27744	N	1.52	0.38360	L	0.97	0.42502	T	0.01	0.06868	N	0.251	0.28381	-1.0998	0.04116	T	0.066	0.27364	T	10	0.05529073	0.06020	T	0.004427	0.10844	T	0.029	0.06676	0.227	0.15257	0.409124616982	0.40530	0.3531458812777636	0.35228	0.280972310988	0.30572	0.412960290909	0.26867	T	0.076581	0.35452	T	-0.406764	0.02089	T	-0.525872	0.19702	T	0.0730817841677141	0.09077	T	0.680532	0.28920	T	0.025825538	0.01565	0.029282438	0.01249	0.025825538	0.01565	0.029282438	0.01249	-3.6	0.17857	T	.	.	0.103	0.18331	B	.	.	1.428944	0.18466	13.75	0.83548594214773642	0.14787	0.53653	0.29424	D	AEFDGBCI	0.103760	0.20780	N	-0.37568412347662	0.26338	1.436679	-0.20199198096669	0.31465	1.780946	0.999996737311292	0.74766	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.7	3.32	0.37134	0.596000	0.23744	-0.174000	0.11198	0.665000	0.62972	1.000000	0.71638	0.552000	0.25473	0.991000	0.66497	0.0:0.3193:0.0:0.6807	7.268	0.25412	567	0.70732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1321.98	33	chr3	45089073	.	T	C	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.471;SOR=0.655	GT:AD:DP:GQ:PL	0/1:72,56:128:99:1336,0,1764	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	0/1:41,26,0:67:99:969,0,1643,1092,1722,2814	2	7	11	0
chr3	47244807	47244807	A	C	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon14:c.T1273G:p.F425V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.008	B	0.946	N	1.000	N	0.895	L	1.01	T	-1.026	T	0.045	T	0.097	-0.756	0.799	-9.12	-1.867	-0.490	0.879	0.022	0.00351446564589	.	0.000599042	0.0003	0	0	0	0	0	0	0.0024	0.0002717	42	154602	rs565844112	0.0001	0.0001	6.126e-05	0.0001	0.0016	8.915e-05	8.4e-05	0.0014	0.0013	0	0	0	0	0	0	8.993e-07	0.0002	0.0016	5.254e-05	5.249e-05	3.855e-05	6.715e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.499	0.07772	T	0.597	0.10465	T	0.001	0.09854	B	0.001	0.13708	B	0.945912	0.08321	N	0.973997	1	0.08975	N	1.87	0.49600	L	1.01	0.41058	T	-0.18	0.19509	N	0.15	0.16308	-1.0256	0.21886	T	0.045	0.19152	T	10	0.0060600042	0.00136	T	0.003514	0.07969	T	0.022	0.04323	0.111	0.02112	0.242825505644	0.23883	0.23661921599683025	0.23576	0.210139789538	0.23496	0.297239243984	0.09991	T	0.016837	0.13838	T	-0.627438	0.00099	T	-0.681311	0.06903	T	0.0300185426659477	0.01993	T	0.255674	0.15191	T	0.026117507	0.01628	0.025141405	0.00549	0.026117507	0.01628	0.025141405	0.00549	-1.843	0.03457	T	.	.	0.060	0.00876	B	.;.;.;.	.;.;.;.	-0.418819	0.02142	0.206	0.59423929262300978	0.06221	0.02295	0.06603	N	AEFDBHI	0.054008	0.09782	N	-1.62414906873818	0.01149	0.0499112	-1.74482084738038	0.00953	0.04266662	0.999999932395093	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.56	-9.12	0.00604	-0.504000	0.06456	-2.622000	0.03538	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.1679:0.2148:0.1941:0.4231	0.879	0.01152	14	0.98855	.;.;.;.	.	.	.	.	.	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	39	chr3	47244807	.	A	C	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.225e+00;DP=854;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-4.240e-01;SOR=0.589	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1427,0,1508	20	0	1	0
chr3	48268752	48268752	A	C	exonic	ZNF589	.	nonsynonymous SNV	ZNF589:NM_016089:exon4:c.A1061C:p.H354P,	.	.	427	1094	0	1	0	2	0.000913242	.	.	748321	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.665	H	1.58	T	-0.690	T	0.227	T	0.314	3.356	17.31	0.891	0.652	5.019	5.975	0.353	.	.	0.00978435	0.0053	0	0.0002	0	0	1.519e-05	0.0022	0.0398	0.0044825	693	154602	rs546281978	0.0021	0.0021	0.0011	0.0031	0.0339	0.0020	0.0020	0.0329	0.0325	2.987e-05	0.0002	0	7.557e-05	0	0.0003	1.799e-05	0.0017	0.0339	0.0012	0.0012	0.0007	0.0018	0.0366	0.0011	0.0010	0.0322	0.0305	4.813e-05	0	0	0	0.0004	0	0	4.41e-05	0	0.0366	0.029	0.45756	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.685	0.94485	H	1.58	0.29085	T	-8.77	0.97742	D	0.434	0.47301	-0.6899	0.60913	T	0.227	0.59146	T	9	0.0066658556	0.00151	T	.	.	.	0.353	0.67418	.	.	0.373173300195	0.36924	0.10573605449341555	0.10503	0.783271439671	0.65388	0.618767857552	0.55555	T	0.511265	0.82726	D	-0.43066	0.01469	T	-0.36493	0.37482	T	0.312435595150886	0.25514	T	.	.	.	0.60607225	0.73017	0.5030957	0.71276	0.60607225	0.73018	0.5030957	0.71277	-8.629	0.65280	D	.	.	0.885	0.81783	P	.	.	3.409763	0.47294	22.4	0.92645131640735756	0.22120	0.91378	0.53413	D	AEFDGBCIJ	0.662846	0.63257	D	0.361841176604096	0.59369	4.11559	0.0955585706430214	0.44324	2.716419	0.999999937251222	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	0.891	0.891	0.18359	5.349000	0.65779	3.045000	0.36097	0.540000	0.25189	1.000000	0.71638	0.052000	0.21854	0.200000	0.21896	1.0:0.0:0.0:0.0	5.975	0.18610	21	0.98493	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	982.98	33	chr3	48268752	.	A	C	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=841;ExcessHet=0.0000;FS=3.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.586;SOR=0.395	GT:AD:DP:GQ:PL	0/1:39,38:77:99:997,0,1044	20	0	1	0
chr3	48564798	48564798	G	A	exonic	COL7A1	.	stopgain	COL7A1:NM_000094:exon118:c.C8803T:p.Q2935X,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	985813	Epidermolysis_bullosa_pruriginosa|not_provided	MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.680	N	0.969	D	.	.	.	.	.	.	.	.	.	15.354	49	5.62	2.651	1.994	12.831	.	.	.	.	6.047e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs767051948	3.147e-05	3.147e-05	1.634e-05	4.676e-05	0.0005	2.413e-05	2.158e-05	0.0004	0.0003	0	0	0	0	0	0	2.698e-06	0	0.0005	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.679995	0.10267	N	0.809286	0.781941	0.38731	D	.	.	.	.	.	.	.	.	.	0.692	0.69737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156219	0.69849	D	0.302778	0.88324	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.596376	0.96676	36	0.98683629546127405	0.44652	0.77277	0.37977	D	AEFDGBCI	0.174612	0.30175	N	0.506190872044613	0.67454	5.083947	0.290053345780797	0.54956	3.659417	0.999999901615366	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.620204	0.46100	0	.	.	5.62	5.62	0.85714	2.372000	0.43911	3.759000	0.39711	-0.108000	0.15293	0.873000	0.30851	1.000000	0.68203	0.008000	0.08271	0.0:0.1641:0.8358:0.0	12.831	0.57128	12	0.98946	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	967.98	33	chr3	48564798	.	G	A	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.304e+00;DP=731;ExcessHet=0.0000;FS=4.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=0.841;SOR=1.333	GT:AD:DP:GQ:PL	0/1:21,34:55:99:982,0,552	20	0	1	0
chr3	48752272	48752272	G	A	exonic	PRKAR2A	.	nonsynonymous SNV	PRKAR2A:NM_001321983:exon9:c.C919T:p.R307C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.91	D	0.000	D	1.000	D	3.16	M	-3.16	D	1.018	D	0.908	D	0.837	5.473	35	5.01	2.779	9.584	18.873	0.389	0.223933962239	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001552	24	154602	rs146193506	6.293e-05	6.293e-05	4.9e-05	7.7e-05	0.0005	5.228e-05	4.845e-05	0.0004	0.0003	0	2.237e-05	0	0	1.872e-05	0	4.047e-05	3.312e-05	0.0005	3.286e-05	3.283e-05	3.855e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.413e-05	0	6.551e-05	0	0	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.826	0.59373	P	0.000001	0.62929	D	0.057083	1	0.81001	D	2.505	0.72935	M	-3.16	0.92996	D	-5.47	0.85617	D	0.614	0.66787	1.018	0.97505	D	0.908	0.96949	D	10	0.78133523	0.77879	D	0.223934	0.87925	D	0.860	0.95728	.	.	0.94061181125	0.93999	0.7114633919220158	0.71088	1.38609513779	0.84885	0.360798716545	0.19502	T	0.836657	0.96152	D	0.190898	0.73046	D	0.352592	0.90419	D	0.740867078304291	0.42784	D	0.981202	0.93547	D	0.5699143	0.71056	0.4684128	0.69165	0.5699143	0.71058	0.4684128	0.69165	-10.71	0.79768	D	.	.	0.123	0.25656	B	.;.;.	.;.;.	5.899452	0.93994	33	0.99923438101637474	0.98917	0.99385	0.95344	D	AEFDBI	0.926855	0.90863	D	0.958787452701081	0.94328	12.67314	0.901269596185656	0.95627	13.80632	0.999999999999598	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.567339	0.31927	0	.	.	5.01	5.01	0.66477	8.098000	0.89376	11.742000	0.95215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.873	0.92293	2	0.99499	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding 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	1487.98	34	chr3	48752272	.	G	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=821;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-5.650e-01;SOR=0.921	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1502,0,1675	20	0	1	0
chr3	49099511	49099511	G	A	exonic	QARS1	.	nonsynonymous SNV	QARS1:NM_001272073:exon16:c.C1492T:p.R498W	.	YES	436	1085	1	0	0	1	0.000460617	0.9919	0.844	500312	Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome|not_provided	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.64	L	1.84	T	-1.007	T	0.127	T	0.775	3.987	20.4	4.54	2.770	4.242	13.668	0.227	.	.	0.00299521	0.0013	9.61e-05	0	0.0001	0	0	0	0.0093	0.0011255	174	154602	rs553194272	0.0005	0.0005	0.0003	0.0007	0.0082	0.0005	0.0005	0.0077	0.0075	2.987e-05	4.472e-05	0	5.038e-05	0	0	8.993e-06	0.0005	0.0082	0.0003	0.0003	0.0002	0.0003	0.0083	0.0002	0.0002	0.0063	0.0055	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0083	0.006	0.61437	D	0.01	0.69154	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.044597	0.99999	0.58761	D	1.705	0.44259	L	1.84	0.24656	T	-4.07	0.76822	D	0.865	0.88356	-1.0067	0.27943	T	0.127	0.43401	T	10	0.014571607	0.00306	T	.	.	.	0.227	0.52620	.	.	0.62543842953	0.62239	0.8331987719652475	0.83278	1.05892359154	0.76413	0.815172672272	0.84286	D	0.710045	0.91722	D	-0.275067	0.11199	T	-0.161494	0.58218	T	0.0841564782459829	0.10509	T	0.995834	0.98556	D	0.633909	0.74507	0.36900297	0.62179	0.62762743	0.74172	0.3628885	0.61685	-8.349	0.63825	D	.	.	0.221	0.47481	B	.;.;.;.	.;.;.;.	5.649312	0.92799	33	0.99899131172456357	0.97124	0.88858	0.48992	D	AEFBCI	0.856393	0.77362	D	0.687829418657261	0.78835	6.952282	0.679437843583526	0.80822	7.384667	0.999452224493582	0.39788	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	4.54	0.55220	4.268000	0.58681	4.228000	0.42634	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.7189:0.2811	13.668	0.61883	0	0.99858	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain;.;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic 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	2802.98	34	chr3	49099511	.	G	A	2802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=2.25;SOR=0.732	GT:AD:DP:GQ:PL	0/1:84,102:186:99:2817,0,2125	20	0	1	0
chr3	49124739	49124739	G	A	exonic	LAMB2	.	nonsynonymous SNV	LAMB2:NM_002292:exon21:c.C3071T:p.P1024L,	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	295402	LAMB2-related_infantile-onset_nephrotic_syndrome|Pierson_syndrome|not_specified	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049,Orphanet:2670|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.68	T	0.012	B	0.011	B	0.000	D	1.000	D	0.93	L	-0.05	T	-0.984	T	0.131	T	0.411	0.910	8.702	5.53	2.628	1.975	9.052	0.128	.	.	0.00319489	0.0014	0	0	0	0	1.502e-05	0	0.0101	0.0012419	192	154602	rs368506627	0.0006	0.0006	0.0003	0.0008	0.0094	0.0006	0.0005	0.0089	0.0087	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	0.0006	0.0094	0.0003	0.0003	0.0002	0.0004	0.0091	0.0002	0.0002	0.0070	0.0062	2.404e-05	0	0	0	0	0	0	0	0	0.0091	0.711	0.04032	T	0.895	0.03091	T	0.012	0.16265	B	0.011	0.15521	B	0.000065	0.52346	D	0.165190	0.999938	0.51612	D	0.94	0.23649	L	-0.05	0.63403	T	-1.0	0.26422	N	0.266	0.30347	-0.9841	0.34045	T	0.131	0.44228	T	10	0.01257512	0.00270	T	.	.	.	0.128	0.35103	0.653	0.79068	0.45882554386	0.45509	0.3859293023183564	0.38507	0.181203500127	0.20376	0.471647948027	0.34907	T	0.225195	0.58986	T	-0.365939	0.03805	T	-0.290461	0.45724	T	0.0576705360473483	0.06797	T	0.69513	0.30474	T	0.09451252	0.22221	0.09022512	0.21146	0.06944576	0.15214	0.08895752	0.20772	-6.592	0.50992	T	.	.	0.081	0.08512	B	.;.	.;.	3.118183	0.42087	21.5	0.82820015082197318	0.14392	0.97568	0.75603	D	AEFGBI	0.757532	0.69646	D	-0.199456982159788	0.33157	1.877979	0.0143901021006469	0.40381	2.409072	0.999544067172778	0.40300	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	2.517000	0.45189	9.959000	0.82782	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0778:0.1493:0.7728:0.0	9.052	0.35545	0	0.99858	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	2610.98	35	chr3	49124739	.	G	A	2610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1290;ExcessHet=0.0000;FS=2.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.868;SOR=0.881	GT:AD:DP:GQ:PL	0/1:100,94:194:99:2625,0,2672	20	0	1	0
chr3	49256446	49256446	G	A	exonic	IHO1	.	nonsynonymous SNV	IHO1:NM_001135197:exon8:c.G949A:p.E317K	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.002	B	0.006	B	0.828	N	1.000	N	0.695	N	0.81	T	-1.024	T	0.070	T	0.161	1.757	11.83	0.306	0.160	-0.041	3.493	0.007	.	.	0.00319489	0.0014	0	0	0	0	1.502e-05	0	0.0102	0.0012548	194	154602	rs375519630	0.0006	0.0006	0.0004	0.0008	0.0095	0.0006	0.0005	0.0090	0.0088	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	0.0005	0.0095	0.0003	0.0003	0.0002	0.0004	0.0095	0.0002	0.0002	0.0073	0.0066	2.406e-05	0	0	0	0	0	0	0	0	0.0095	0.224	0.18691	T	0.365	0.16717	T	0.002	0.09854	B	0.006	0.12133	B	0.827878	0.09129	N	0.916709	1	0.08975	N	.	.	.	0.81	0.48460	T	-1.84	0.43149	N	0.073	0.04668	-1.0237	0.22508	T	0.070	0.28511	T	10	0.0040240884	0.00078	T	.	.	.	0.007	0.00512	0.39	0.41279	0.420544483464	0.41669	0.16926161613610496	0.16846	0.28819256759	0.31226	0.285793542862	0.08313	T	0.026537	0.19616	T	-0.552955	0.00280	T	-0.559096	0.16461	T	0.019145229216386	0.00621	T	0.650635	0.26150	T	0.11714797	0.27622	0.10006428	0.23914	0.11714797	0.27621	0.10006428	0.23913	-3.491	0.16306	T	.	.	0.086	0.10787	B	.;.;.	.;.;.	0.999871	0.13782	10.33	0.90797580317977866	0.20047	0.01443	0.04843	N	AEFDBI	0.038693	0.05512	N	-0.993132951540958	0.08749	0.4114544	-0.999874476645903	0.09788	0.4890393	0.370461386490041	0.19865	0.554377	0.28877	0	0.547309	0.14657	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	5.0	0.306	0.15053	0.101000	0.15088	1.522000	0.27099	0.618000	0.50648	0.000000	0.06391	0.016000	0.20520	0.788000	0.37229	0.4058:0.1991:0.3951:0.0	3.493	0.07208	1	0.99630	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1297.98	35	chr3	49256446	.	G	A	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=810;ExcessHet=0.0000;FS=4.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.039e+00;SOR=0.851	GT:AD:DP:GQ:PL	0/1:72,48:120:99:1312,0,1873	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	0/1:68,49,0:117:99:1833,0,2705,2038,2854,4892	0	4	6	0
chr3	49650850	49650850	C	T	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon4:c.C1757T:p.A586V,	.	.	403	1118	1	0	0	1	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.018	B	0.008	B	0.081	U	0.639	N	0.895	L	2.25	T	-1.097	T	0.032	T	0.194	3.255	16.92	4.61	2.411	0.809	12.805	0.031	.	.	0.00339457	0.0014	9.731e-05	0	0	0	1.507e-05	0	0.0100	0.0012354	191	154602	rs369197829	0.0006	0.0006	0.0003	0.0008	0.0091	0.0005	0.0005	0.0085	0.0083	2.987e-05	2.237e-05	0	0	0	0	2.698e-06	0.0005	0.0091	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	4.808e-05	0	0	0	0	0	0	0	0	0.0093	0.103	0.30097	T	0.037	0.51737	D	0.018	0.17786	B	0.008	0.13708	B	0.080876	0.20899	U	0.352960	0.638654	0.30635	N	1.79	0.46772	L	2.25	0.17761	T	-0.33	0.12472	N	0.307	0.34659	-1.0966	0.04528	T	0.032	0.13854	T	10	0.0046046376	0.00096	T	.	.	.	0.031	0.07369	0.181	0.08877	0.298199939746	0.29431	0.07227080199447544	0.07164	0.276604005322	0.30129	0.471768319607	0.34923	T	0.126508	0.45294	T	-0.55493	0.00272	T	-0.562361	0.16155	T	0.0400244835256793	0.03695	T	0.712729	0.32446	T	0.06521259	0.13914	0.077938735	0.17409	0.06521259	0.13914	0.077938735	0.17409	-6.174	0.47712	T	.	.	0.094	0.14339	B	.	.	3.282597	0.44983	22.0	0.99770313292724389	0.85834	0.84359	0.43441	D	AEFDBI	0.210642	0.33651	N	-0.190994974425263	0.33509	1.901835	-0.0208033479271851	0.38776	2.28945	0.999994641884426	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.61	4.61	0.56724	3.836000	0.55516	1.973000	0.29997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	12.805	0.56992	1	0.99630	.	.	.	.	.	.	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	2459.98	34	chr3	49650850	.	C	T	2459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.568e+00;DP=910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-4.200e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/1:83,95:178:99:2474,0,2216	20	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.161	13.18	4.06	0.825	2.394	5.690	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	253.15	61	chr3	49685734	.	T	G	253.15	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.840e-01;DP=1598;ExcessHet=0.1072;FS=18.777;InbreedingCoeff=-0.0516;MLEAC=2;MLEAF=0.048;MQ=58.46;MQRankSum=-1.625e+01;QD=0.42;ReadPosRankSum=-2.929e+00;SOR=2.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,25:310:99:0|1:49685734_T_G:192,0,11848:49685734	19	0	2	0
chr3	50276669	50276669	G	A	exonic	SEMA3B	.	nonsynonymous SNV	SEMA3B:NM_001290062:exon11:c.G1184A:p.R395H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.939	D	0.913	N	.	.	.	.	.	.	-0.357	T	0.371	T	0.158	1.508	10.99	4.38	2.412	1.783	12.615	0.105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.55341	D	0.998	0.77913	D	0.869	0.67449	P	0.912847	0.08541	N	0.950496	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.26717	-0.3572	0.73345	T	0.371	0.73008	T	7	0.24732205	0.42011	T	.	.	.	.	.	0.279	0.23323	0.383590876969	0.37966	0.28674943076740494	0.28587	.	.	0.753298640251	0.74933	T	0.07164	0.34258	T	0.00542209	0.52399	T	-0.229988	0.51773	T	0.965000212192535	0.67129	D	0.888311	0.61778	D	0.11054497	0.26129	0.14466076	0.34337	0.11054497	0.26128	0.14466076	0.34336	-5.36	0.40910	T	.	.	0.139	0.33016	B	.;.;.;.;.;.	.;.;.;.;.;.	4.283989	0.65277	24.8	0.9100355355246259	0.20253	0.21604	0.21460	N	AEFDBCI	.	.	.	0.079050008245511	0.45485	2.804342	-0.0423019069595837	0.37825	2.220008	0.998860451549067	0.37845	0.287651	0.05010	1	0.096583	0.02683	0	0.25417	0.05116	1	0.085113	0.02366	1	0.698404	0.42826	4.38	4.38	0.52019	2.740000	0.47092	11.542000	0.93137	0.656000	0.54149	0.639000	0.28076	1.000000	0.68203	0.592000	0.31189	0.0:0.0:1.0:0.0	12.615	0.55931	3	0.99430	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	687.98	33	chr3	50276669	.	G	A	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.058e+00;DP=743;ExcessHet=0.0000;FS=6.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-7.110e-01;SOR=1.581	GT:AD:DP:GQ:PL	0/1:23,26:49:99:702,0,621	20	0	1	0
chr3	50340673	50340673	G	A	exonic	RASSF1	.	stopgain	RASSF1:NM_007182:exon1:c.C133T:p.Q45X	Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.033	N	1.000	A	.	.	.	.	.	.	.	.	.	5.114	32	4.33	1.147	4.270	9.622	.	.	.	0.000798722	0.0008	0	0	0	0	0	0	0.0018	0.000194	30	154602	rs587719322	6.295e-05	7.183e-05	4.299e-05	8.331e-05	0.0010	5.164e-05	4.824e-05	0.0009	0.0008	0	0	0	0	0	0	1.847e-06	3.471e-05	0.0010	5.251e-05	5.249e-05	2.569e-05	8.052e-05	0.0017	2.555e-05	1.828e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.032559	0.25014	N	0.382752	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.788	0.78641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24297	0.77942	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.409608	0.97531	37	0.99622741762353362	0.75533	0.71622	0.35093	D	AEFDGBHCI	0.183250	0.31057	N	0.686595235228624	0.78753	6.935766	0.534046074958524	0.70295	5.484301	0.999999999999314	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.22	4.33	0.51083	3.873000	0.55806	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:0.1546:0.6853:0.1601	9.622	0.38894	2	0.99499	.;.	.	.	.	.	.	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	1632.98	35	chr3	50340673	.	G	A	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.901e+00;DP=829;ExcessHet=0.0000;FS=3.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-9.000e-03;SOR=0.733	GT:AD:DP:GQ:PL	0/1:58,71:129:99:1647,0,1399	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/1:13,7,0:20:99:254,0,525,294,546,840	5	0	8	1
chr3	52478230	52478230	A	G	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_001276293:exon10:c.A1121G:p.H374R	.	.	435	1077	9	1	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.867	P	0.316	B	0.018	N	0.601	D	0.03	N	2.03	T	-1.036	T	0.025	T	0.174	3.426	17.59	4.6	1.023	3.771	11.447	0.048	.	.	0.0071885	0.0045	9.612e-05	0.0003	0	0	2.998e-05	0.0022	0.0326	0.0039133	605	154602	rs201701090	0.0020	0.0020	0.0011	0.0030	0.0327	0.0020	0.0019	0.0317	0.0313	0.0001	0	0	0.0001	0	0.0024	6.295e-06	0.0017	0.0327	0.0010	0.0010	0.0006	0.0015	0.0319	0.0009	0.0008	0.0278	0.0262	2.405e-05	0	0	0	0	0	0	0	0	0.0319	0.188	0.24758	T	0.004	0.74150	D	0.867	0.47667	P	0.316	0.41603	B	0.017595	0.27685	N	0.423566	0.601193	0.32540	D	0.33	0.10399	N	2.03	0.20959	T	-1.39	0.41809	N	0.285	0.32259	-1.0357	0.18637	T	0.025	0.10866	T	10	0.0060735345	0.00136	T	.	.	.	0.048	0.13305	.	.	0.158540857583	0.15491	0.3443667779522323	0.34350	0.551776475164	0.52012	0.538968145847	0.44299	T	0.087693	0.37997	T	-0.548048	0.00300	T	-0.534942	0.18797	T	0.0534320323896949	0.06093	T	0.862414	0.65783	D	0.071406044	0.15807	0.09340457	0.22061	0.071406044	0.15807	0.09340457	0.22061	-7.808	0.59754	D	.	.	0.155	0.34227	B	.;.;.;.	.;.;.;.	3.201921	0.43545	21.8	0.99405091485288777	0.62981	0.87917	0.47625	D	AEFGBCI	0.355319	0.44709	N	-0.106391836500444	0.37113	2.154653	0.0541745912165487	0.42275	2.554097	0.994534152253947	0.33682	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.6	0.56512	3.777000	0.55071	7.131000	0.57624	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.9299:0.0:0.0701:0.0	11.447	0.49374	72	0.96948	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2024.98	34	chr3	52478230	.	A	G	2024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=915;ExcessHet=0.0000;FS=2.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-1.297e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:97,92:189:99:2039,0,2305	20	0	1	0
chr3	52784356	52784356	C	T	exonic	ITIH1	.	nonsynonymous SNV	ITIH1:NM_001166435:exon7:c.C422T:p.P141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.979	D	0.001	D	1.000	D	2.305	M	-1.68	D	0.432	D	0.708	D	0.607	5.172	32	5.19	2.709	4.058	18.512	0.512	0.165746574973	.	0.000998403	0.0004	0	0	0	0	4.527e-05	0	0.0028	0.0003493	54	154602	rs572622802	0.0001	0.0001	8.168e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	0	0	0	2.519e-05	0	0	1.169e-05	6.623e-05	0.0020	6.565e-05	6.561e-05	3.854e-05	9.399e-05	0.0019	3.514e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.014	0.53172	D	0.235	0.48594	T	1.0	0.90584	D	0.979	0.74454	D	0.000503	0.43753	D	0.241003	0.999953	0.52396	D	2.815	0.81989	M	-1.68	0.82897	D	-3.82	0.71997	D	0.57	0.59308	0.432	0.89578	D	0.708	0.89969	D	10	0.024979323	0.00707	T	0.165747	0.84454	D	0.512	0.79094	0.598	0.72862	0.889944089641	0.88886	0.6457499296368994	0.64509	0.668619433952	0.59308	0.451307237148	0.32122	T	0.429576	0.77833	T	-0.217458	0.18342	T	-0.0903773	0.64133	T	0.356545239686966	0.27274	T	0.978802	0.92599	D	0.53712845	0.69235	0.25791636	0.51517	0.53712845	0.69236	0.25791636	0.51516	-7.802	0.66433	D	.	.	0.366	0.57610	A	.;.	.;.	5.100797	0.85226	28.5	0.99918523240592194	0.98586	0.86973	0.46378	D	AEFGBI	0.889329	0.82330	D	0.532172334715116	0.69005	5.295811	0.470011272961341	0.66011	4.896963	0.999999999914415	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	5.19	0.71428	3.649000	0.54157	7.671000	0.64778	0.549000	0.26987	0.076000	0.22236	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.512	0.90869	33	0.98110	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1941.98	33	chr3	52784356	.	C	T	1941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=876;ExcessHet=0.0000;FS=1.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.257;SOR=0.581	GT:AD:DP:GQ:PL	0/1:85,77:162:99:1956,0,2034	20	0	1	0
chr3	57408506	57408506	G	A	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon40:c.C6050T:p.T2017M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.808	P	0.354	B	.	.	1.000	N	1.59	L	1.27	T	-1.013	T	0.098	T	0.285	1.557	11.16	4.13	2.421	3.657	14.649	0.070	0.0691018060287	.	0.000399361	0.0014	0	0	0	0	0	0	0.0041	0.0001746	27	154602	rs544442885	0.0002	0.0002	9.322e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	6.348e-05	0	0	0.0001	6.098e-05	0.0004	4.083e-05	0.0002	0.0021	7.88e-05	7.874e-05	3.854e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	2.407e-05	0	0	0	0	0	0	2.94e-05	0	0.0019	0.011	0.55530	D	.	.	.	0.808	0.45299	P	0.354	0.42942	B	.	.	.	.	1	0.08975	N	1.76	0.45711	L	1.27	0.36146	T	-2.88	0.60507	D	0.394	0.43514	-1.0134	0.25848	T	0.098	0.36548	T	9	0.013027817	0.00278	T	0.069102	0.70637	D	0.070	0.20419	0.405	0.43738	0.628213846089	0.62517	.	.	.	.	0.566841840744	0.48231	T	0.027439	0.20093	T	-0.47079	0.00840	T	-0.455201	0.27122	T	0.0718486649704075	0.08909	T	0.887511	0.78551	D	0.09467986	0.22265	0.21512234	0.46089	0.09467986	0.22265	0.21512234	0.46088	-8.845	0.66694	D	.	.	0.078	0.07985	B	.;.	.;.	3.621208	0.51243	23.1	0.99083841132200168	0.52027	0.71576	0.35073	D	AEFBI	0.209968	0.33590	N	0.262346950188716	0.54252	3.591278	0.29431034914405	0.55207	3.68391	1.89284175427259E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	4.13	0.47661	3.131000	0.50210	5.774000	0.49761	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.698000	0.34080	0.0829:0.0:0.9171:0.0	14.649	0.68385	305	0.87738	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1214.98	37	chr3	57408506	.	G	A	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.680e-01;DP=819;ExcessHet=0.0000;FS=1.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=0.700;SOR=0.997	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1229,0,1048	20	0	1	0
chr3	58170691	58170691	G	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon45:c.G7666A:p.D2556N	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1396204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.236	B	0.142	B	0.002	N	1.000	D	1.455	L	-1.89	D	-0.342	T	0.463	T	0.065	0.755	7.998	3.98	1.400	5.196	15.643	0.282	0.0959621614098	.	.	3.296e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs758182239	1.505e-05	1.505e-05	1.225e-05	1.788e-05	9.275e-05	9.85e-06	8.41e-06	4.578e-05	3.272e-05	5.974e-05	0	3.826e-05	5.038e-05	0	0	7.194e-06	1.656e-05	9.275e-05	6.572e-06	1.313e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.574	0.08237	T	0.269	0.44702	T	0.102	0.25827	B	0.031	0.21939	B	0.001806	0.37945	N	0.310964	0.999967	0.81001	D	0.83	0.20963	L	-1.89	0.84557	D	-1.6	0.38540	N	0.205	0.27197	-0.3423	0.73777	T	0.463	0.79184	T	10	0.2757718	0.45137	T	0.095962	0.76519	D	0.282	0.59981	.	.	0.790952874218	0.78900	0.13980965621080677	0.13903	0.25712712835	0.28284	0.433788686991	0.29727	T	0.514585	0.82906	D	-0.223894	0.17464	T	-0.377857	0.35973	T	0.108336135745049	0.13250	T	0.924807	0.72410	D	0.05545716	0.10781	0.06778597	0.14068	0.05545716	0.10781	0.06778597	0.14068	-3.376	0.16614	T	.	.	0.078	0.16670	B	.;.;.;.;.;.	.;.;.;.;.;.	4.555924	0.71747	25.7	0.80229888073823163	0.13105	0.88191	0.48010	D	AEFGBCI	0.755039	0.69473	D	-0.432072174991402	0.24353	1.314	-0.323761931585441	0.27334	1.515962	0.99999998655143	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.86	3.98	0.45383	5.523000	0.66813	9.848000	0.81969	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.1377:0.8623:0.0	15.643	0.76778	613	0.66686	.;.;.;.;.;.	.	.	.	.	.	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	2014.98	38	chr3	58170691	.	G	A	2014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-02;DP=895;ExcessHet=0.0000;FS=0.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.231e+00;SOR=0.633	GT:AD:DP:GQ:PL	0/1:92,83:175:99:2029,0,2266	20	0	1	0
chr3	63912714	63912714	-	GCC	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001177387:exon2:c.116_117insGCC:p.P43_Q44insP	Spinocerebellar ataxia 7, Autosomal dominant	.	30	1415	44	2	31	79	0.0166782	.	.	2827531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0	0	0	0.0049	0.0169	0.125	0.0165	0.0008085	125	154602	rs770364745	0.0074	0.0063	0.0073	0.0075	0.0273	0.0072	0.0072	0.0223	0.0205	0.0021	0.0049	0.0091	0.0008	0.0031	0.0273	0.0077	0.0079	0.0069	0.0079	0.0079	0.0079	0.0079	0.0167	0.0075	0.0074	0.0150	0.0143	0.0022	0.0176	0.0167	0.0091	0.0006	0.0026	0.0350	0.0104	0.0132	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	397.94	15	chr3	63912714	.	A	AGCC	397.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.539e+00;DP=510;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.11;ReadPosRankSum=-8.170e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/1:7,11:18:99:412,0,204	20	0	1	0
chr3	67375808	67375808	A	G	exonic	SUCLG2	.	nonsynonymous SNV	SUCLG2:NM_003848:exon11:c.T1235C:p.I412T,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.983	D	0.969	D	0.000	D	1.000	D	1.95	M	-0.99	T	0.096	D	0.523	D	0.918	2.723	15.06	5.38	2.161	8.039	13.200	0.794	0.0554254056359	.	.	8.458e-06	0	0	0	0	0	0	6.423e-05	6.5e-06	1	154602	rs774922481	6.842e-06	6.84e-06	4.084e-06	9.627e-06	0.0007	3.46e-06	2.52e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.799e-06	1.656e-05	3.479e-05	1.969e-05	1.968e-05	0	4.027e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0.0034	0	0	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.956	0.54666	P	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.165	0.88605	M	-0.99	0.75911	T	-4.43	0.77554	D	0.924	0.92784	0.096	0.84092	D	0.523	0.82230	D	10	0.9850817	0.98740	D	0.055425	0.66229	D	0.794	0.93227	0.869	0.96265	0.932158950654	0.93146	.	.	.	.	0.555961787701	0.46698	T	0.226717	0.59181	T	0.335891	0.85558	D	0.345337	0.90131	D	0.939390420913696	0.61080	D	0.988601	0.96130	D	0.8255574	0.85597	0.77514625	0.86733	0.8255574	0.85598	0.77514625	0.86733	-9.605	0.71510	D	.	.	0.934	0.85387	P	.	.	3.545455	0.49816	22.8	0.99499792261667919	0.67973	0.97451	0.74834	D	AEFI	0.919733	0.89067	D	0.587535179252154	0.72397	5.799134	0.526769617686454	0.69796	5.411948	0.988610370424397	0.31573	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.38	5.38	0.77279	8.369000	0.90016	9.390000	0.80573	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	1.0:0.0:0.0:0.0	13.200	0.59185	911	0.21964	ATP-citrate lyase/succinyl-CoA ligase	.	.	.	.	.	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	897.98	38	chr3	67375808	.	A	G	897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.806;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.888;QD=9.87;ReadPosRankSum=-9.830e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/1:52,39:91:99:912,0,1244	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|1:91,116:207:99:0|1:75730450_C_T:4481,0,3431:75730450	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	0/1:82,12:94:99:.:.:257,0,3379	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,60:215:99:.:.:1076,0,5970	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,85:226:99:.:.:2812,0,5633	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|1:149,82:231:99:0|1:75736920_C_A:2995,0,5950:75736920	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|1:150,82:232:99:0|1:75736920_C_A:2992,0,6042:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:142,100:242:99:2422,0,4283	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:134,112:246:99:2949,0,3935	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	0/1:144,147:291:99:3390,0,5395	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|1:139,148:287:99:0|1:75737092_C_T:5796,0,5383:75737092	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|1:137,145:282:99:0|1:75737092_C_T:5676,0,5316:75737092	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|1:135,140:275:99:0|1:75737092_C_T:5472,0,5247:75737092	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|1:122,118:240:99:0|1:75737092_C_T:4588,0,4768:75737092	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|1:118,75:193:99:0|1:75737092_C_T:2794,0,4708:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,15:134:99:0|1:75737228_T_C:192,0,4911:75737228	10	0	11	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:135,188:323:99:.:.:7290,0,4916	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|1:134,145:279:99:0|1:75737590_A_G:5637,0,5157:75737590	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|1:140,146:286:99:0|1:75737590_A_G:5588,0,5415:75737590	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|1:140,147:287:99:0|1:75737590_A_G:5447,0,5349:75737590	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|1:137,224:361:99:0|1:75737651_G_A:8993,0,5078:75737651	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|1:119,223:342:99:0|1:75737651_G_A:9006,0,4326:75737651	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|1:184,146:330:99:0|1:75737814_C_T:5444,0,7013:75737814	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|1:184,84:268:99:0|1:75737881_T_C:2618,0,7251:75737881	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|1:185,68:253:99:0|1:75737881_T_C:2194,0,7463:75737881	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|1:183,60:243:99:0|1:75737881_T_C:1966,0,7428:75737881	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	0/1:143,17:160:99:284,0,5857	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|1:191,48:239:99:0|1:75737994_T_C:1441,0,7734:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,36:228:99:0|1:75737994_T_C:934,0,7954:75737994	5	0	13	3
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R	.	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	N	-0.87	N	3.21	T	-0.915	T	0.007	T	0.332	-1.903	0.008	-0.593	-0.086	-0.759	2.786	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.2	2892.1	214	chr3	75738071	.	A	G	2892.1	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.740e-01;DP=3983;ExcessHet=3.5521;FS=8.270;InbreedingCoeff=-0.2377;MLEAC=8;MLEAF=0.200;MQ=57.37;MQRankSum=-1.015e+01;QD=1.67;ReadPosRankSum=-1.907e+00;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,25:200:99:0|1:75737994_T_C:523,0,7273:75737994	12	0	8	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C	.	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	1.21	L	3.11	T	-0.989	T	0.016	T	0.343	0.147	4.790	-3.58	-1.677	-0.063	5.171	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.2	1932.26	212	chr3	75738074	.	G	A	1932.26	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.700e-02;DP=3886;ExcessHet=3.5521;FS=8.966;InbreedingCoeff=-0.2654;MLEAC=8;MLEAF=0.200;MQ=57.53;MQRankSum=-9.911e+00;QD=1.13;ReadPosRankSum=-2.333e+00;SOR=1.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,22:203:99:0|1:75737994_T_C:379,0,7534:75737994	12	0	8	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V	.	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.56	H	0.99	T	-0.796	T	0.314	T	0.499	2.958	15.86	1.91	1.185	4.477	7.900	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.2	1551.64	205	chr3	75738077	.	A	C	1551.64	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-1.917e+00;DP=3863;ExcessHet=3.5521;FS=11.803;InbreedingCoeff=-0.2553;MLEAC=8;MLEAF=0.200;MQ=57.57;MQRankSum=-9.670e+00;QD=0.92;ReadPosRankSum=-2.700e+00;SOR=1.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,19:205:99:0|1:75737994_T_C:238,0,7753:75737994	12	0	8	1
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	0/1:103,52:155:99:1056,0,2875	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	0/1:62,59:121:99:1333,0,1702	0	0	21	0
chr3	98025619	98025619	C	G	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.G186C:p.E62D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	7.677e-05	2.526e-05	1.873e-05	0.0002	0.0004	0.0003	4.662e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.37173	T	0.029	0.19866	B	0.098	0.30479	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.10471362	0.19318	T	.	.	.	.	.	.	.	0.352476196916	0.34857	0.40720103366486365	0.40636	.	.	.	.	.	0.006922	0.06344	T	-0.218202	0.18239	T	-0.551208	0.17211	T	.	.	.	0.407359	0.10471	T	0.03210559	0.03173	0.050597325	0.07975	0.03210559	0.03173	0.050597325	0.07974	-3.351	0.14404	T	.	.	0.132	0.28435	B	.;.	.;.	0.811300	0.11821	8.392	0.99029985120482455	0.50786	0.65308	0.32694	D	AEFBHCI	0.127138	0.24438	N	.	.	.	.	.	.	0.114311401285484	0.16729	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	-0.445	0.11631	-0.039000	0.12076	.	.	0.597000	0.34315	0.594000	0.27698	0.000000	0.08366	0.053000	0.15439	0.145:0.4054:0.0:0.4496	5.182	0.14491	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	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	0.1	155.59	57	chr3	98025619	.	C	G,T	155.59	.	AC=1,3;AF=0.025,0.075;AN=40;BaseQRankSum=-3.105e+00;DP=1411;ExcessHet=0.6776;FS=340.609;InbreedingCoeff=-0.1204;MLEAC=1,3;MLEAF=0.025,0.075;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.606;SOR=10.823	GT:AD:DP:GQ:PL	0/2:79,15,28:122:55:55,172,1863,0,1623,1653	16	0	1	1
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,18,0:109:99:.:.:298,0,3503,636,3632,5046	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,18,0:109:99:.:.:298,0,3503,636,3632,5046	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	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	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:90,0,18:109:99:.:.:298,636,5046,0,3632,3503	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:90,0,18:109:99:.:.:298,636,5046,0,3632,3503	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:90,0,18:109:99:.:.:298,636,5046,0,3632,3503	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13,7,0,0,0:104:99:.:.:309,0,3408,187,3229,3594,584,3478,3661,4197,584,3478,3661,4197,4197,584,3478,3661,4197,4197,4197	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13,7,0,0,0:104:99:.:.:309,0,3408,187,3229,3594,584,3478,3661,4197,584,3478,3661,4197,4197,584,3478,3661,4197,4197,4197	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	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	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13,7,0,0,0:104:99:.:.:309,0,3408,187,3229,3594,584,3478,3661,4197,584,3478,3661,4197,4197,584,3478,3661,4197,4197,4197	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13,7,0,0,0:104:99:.:.:309,0,3408,187,3229,3594,584,3478,3661,4197,584,3478,3661,4197,4197,584,3478,3661,4197,4197,4197	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13,7,0,0,0:104:99:.:.:309,0,3408,187,3229,3594,584,3478,3661,4197,584,3478,3661,4197,4197,584,3478,3661,4197,4197,4197	0	0	5	10
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.053	B	0.261	N	1.000	N	1.715	L	0.99	T	-1.004	T	0.079	T	0.179	-0.795	0.690	0.621	0.219	-0.776	1.131	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	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	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,13,0:107:3:0|1:98133463_C_*:3,0,3554,322,3641,4344:98133463	14	0	6	0
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.026	B	0.119	B	0.261	N	1.000	N	0.865	L	0.99	T	-1.030	T	0.062	T	0.114	-1.253	0.050	0.621	0.219	-0.776	1.131	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	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	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,13,0:107:3:0|1:98133463_C_*:3,0,3554,322,3641,4344:98133463	14	0	6	0
chr3	108455752	108455752	C	T	exonic	MYH15	.	nonsynonymous SNV	MYH15:NM_014981:exon21:c.G2306A:p.R769Q,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.047	B	0.037	B	.	.	1.000	N	0.605	N	-2.26	D	-0.796	T	0.415	T	0.06	2.501	14.32	-5.93	-0.864	-0.792	17.296	0.181	0.0225166297663	.	.	8.287e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs750480643	1.505e-05	1.505e-05	1.634e-05	1.375e-05	5.975e-05	9.86e-06	8.42e-06	9.9e-06	6.42e-06	5.975e-05	0	0	2.521e-05	0	0	1.349e-05	1.656e-05	3.479e-05	6.573e-06	6.568e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.242	0.17584	T	0.18	0.29442	T	0.047	0.21998	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	-2.26	0.87352	D	-0.38	0.13418	N	0.162	0.17002	-0.7960	0.55380	T	0.415	0.76211	T	9	0.084920466	0.14284	T	0.022517	0.45416	T	0.181	0.45247	0.625	0.76028	0.256283259241	0.25257	0.2783958799488588	0.27752	0.0947135218268	0.10699	0.167130619287	0.00023	T	0.148389	0.48691	T	-0.32178	0.06753	T	-0.518463	0.20451	T	0.0538911074399948	0.06171	T	0.79692	0.44048	T	0.05769139	0.11514	0.112065494	0.27036	0.05769139	0.11514	0.112065494	0.27035	-6.912	0.53388	T	.	.	0.076	0.06069	B	.	.	0.295619	0.06715	3.225	0.94966601315643939	0.25890	0.00803	0.03267	N	AEFBI	0.074924	0.15031	N	-1.36717140557068	0.02951	0.1310848	-1.37189541352496	0.03555	0.1660334	0.994920723152303	0.33865	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	6.06	-5.93	0.02067	-0.812000	0.04602	-5.251000	0.01789	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.987000	0.62547	0.0:0.763:0.0:0.237	17.296	0.87057	565	0.70868	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	33	chr3	108455752	.	C	T	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=837;ExcessHet=0.0000;FS=1.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=2.25;SOR=0.874	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1318,0,1005	20	0	1	0
chr3	111708063	111708063	A	C	exonic	PLCXD2	.	nonsynonymous SNV	PLCXD2:NM_001185106:exon2:c.A301C:p.T101P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.99	D	.	.	1.000	D	1.545	L	-0.01	T	-0.351	T	0.364	T	0.881	4.126	21.3	5.77	2.326	8.910	14.329	0.511	0.0275867424969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204631373	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	6.57e-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	0.134	0.40832	T	0.13	0.36365	T	1.0	0.90584	D	0.984	0.78936	D	.	.	.	.	0.999893	0.50595	D	1.22	0.30592	L	-0.01	0.62762	T	-2.74	0.58248	D	0.705	0.70966	-0.3506	0.73536	T	0.364	0.72506	T	9	0.8086983	0.80178	D	0.027587	0.50382	D	0.511	0.79033	0.624	0.75916	0.372993862945	0.36913	0.6382892789219197	0.63762	0.59830580156	0.55004	0.629924356937	0.57134	T	0.225463	0.59020	T	0.280105	0.81325	D	0.164575	0.81084	D	0.954455018043518	0.64269	D	0.823718	0.48487	T	0.45070395	0.64085	0.50336045	0.71291	0.45070395	0.64086	0.50336045	0.71292	-6.542	0.50770	T	.	.	0.451	0.62246	A	.;.;.	.;.;.	4.341106	0.66595	25.0	0.99511101258886447	0.68618	0.99234	0.93208	D	AEFGI	0.936138	0.93201	D	0.771812335304487	0.84315	8.253868	0.789893038765085	0.89082	9.831094	0.999999997595092	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.77	5.77	0.91077	8.911000	0.92272	11.180000	0.88279	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.329	0.66099	631	0.64944	Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain;.;Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X 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	1696.98	35	chr3	111708063	.	A	C	1696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.343;DP=851;ExcessHet=0.0000;FS=2.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.092;SOR=0.524	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1711,0,2229	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	1/2:0,29,37,0,0,0:66:99:2712,1537,1445,1191,0,1247,2732,1547,1282,2808,2732,1547,1282,2808,2808,2732,1547,1282,2808,2808,2808	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	1/2:0,29,37,0,0,0:66:99:2712,1537,1445,1191,0,1247,2732,1547,1282,2808,2732,1547,1282,2808,2808,2732,1547,1282,2808,2808,2808	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	1/2:0,29,37,0,0,0:66:99:2712,1537,1445,1191,0,1247,2732,1547,1282,2808,2732,1547,1282,2808,2808,2732,1547,1282,2808,2808,2808	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	1/2:0,29,37,0,0,0:66:99:2712,1537,1445,1191,0,1247,2732,1547,1282,2808,2732,1547,1282,2808,2808,2732,1547,1282,2808,2808,2808	0	4	0	0
chr3	120633158	120633158	C	G	exonic	HGD	.	nonsynonymous SNV	HGD:NM_000187:exon13:c.G1177C:p.D393H,	Alkaptonuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.051	B	0.067	B	0.000	D	1.000	D	2.215	M	-5.41	D	0.969	D	0.942	D	0.399	3.069	16.25	5.2	2.703	7.289	17.905	0.636	0.290516604852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	6.574e-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	0.009	0.57480	D	0.065	0.44702	T	0.051	0.22415	B	0.067	0.27542	B	0.000031	0.55875	D	0.117189	0.999987	0.54805	D	2.05	0.56469	M	-5.41	0.99076	D	-3.14	0.64019	D	0.459	0.49602	0.969	0.96681	D	0.942	0.98095	D	10	0.62155443	0.68006	D	0.290517	0.90547	D	0.636	0.86078	0.463	0.53242	0.920873672342	0.92006	0.5553649567880087	0.55463	0.262288518951	0.28792	0.599573493004	0.52843	T	0.946128	0.99190	D	0.196809	0.73595	D	0.0449265	0.73250	D	0.967215578798597	0.67835	D	0.947205	0.79675	D	0.49282646	0.66671	0.48454198	0.70162	0.49282646	0.66672	0.48454198	0.70162	-8.779	0.66263	D	0.29490311392351937	0.39181	0.263	0.49778	B	.	.	4.043659	0.59881	24.2	0.98479028667530422	0.41954	0.98066	0.79310	D	AEFDBHIJ	0.960995	0.98205	D	0.195639998410276	0.50989	3.283918	0.31493684670993	0.56418	3.804967	0.999999999977076	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.2	5.2	0.71720	7.359000	0.78737	4.883000	0.45686	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	17.905	0.88835	311	0.87433	.	.	.	.	.	.	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	1215.98	34	chr3	120633158	.	C	G	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.313;DP=773;ExcessHet=0.0000;FS=0.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=0.125;SOR=0.818	GT:AD:DP:GQ:PL	0/1:31,46:77:99:1230,0,812	20	0	1	0
chr3	121485178	121485178	G	A	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon17:c.C5636T:p.S1879L,	.	.	450	1041	31	0	0	31	0.0146711	.	.	1037301	POLQ-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.013	B	0.009	B	0.479	N	1.000	N	1.085	L	0.65	T	-1.038	T	0.082	T	0.064	1.343	10.41	-1.8	-0.745	0.133	7.414	0.027	.	0.0002	0.00279553	0.0029	0.0003	0.0012	0.0001	0.0002	0.0008	0.0022	0.0169	0.0024709	382	154602	rs147121503	0.0014	0.0014	0.0009	0.0018	0.0148	0.0013	0.0013	0.0141	0.0138	0.0002	0.0017	0.0004	5.131e-05	9.422e-05	0.0055	0.0005	0.0017	0.0148	0.0013	0.0013	0.0008	0.0019	0.0129	0.0012	0.0011	0.0103	0.0094	7.22e-05	0	0.0060	0.0017	0	0	0.0068	0.0006	0.0005	0.0129	0.241	0.17643	T	0.097	0.39190	T	0.001	0.07471	B	0.002	0.06944	B	0.478985	0.12188	N	0.736603	1	0.08975	N	1.255	0.31814	L	0.65	0.52642	T	-2.91	0.60982	D	0.302	0.34120	-1.0376	0.18048	T	0.082	0.32207	T	10	0.004228592	0.00084	T	.	.	.	0.027	0.05988	.	.	0.0482279557977	0.04254	0.32733954107697144	0.32646	0.0644950670279	0.07196	0.274729400873	0.06767	T	0.197175	0.55378	T	-0.615772	0.00117	T	-0.643665	0.09404	T	0.0012855667840687	0.00013	T	0.657934	0.26722	T	0.055490706	0.10791	0.08901301	0.20790	0.055490706	0.10791	0.08901301	0.20789	-3.854	0.21614	T	0.12667760709555098	0.12833	0.061	0.01075	B	.;.	.;.	0.328249	0.07025	3.584	0.86564158235531208	0.16621	0.16206	0.19281	N	AEFBI	0.108041	0.21506	N	-1.35796408788616	0.03043	0.1353312	-1.38397721259263	0.03422	0.1595944	0.0022855965599709	0.09294	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.72	-1.8	0.07480	0.361000	0.20003	0.130000	0.15034	-0.892000	0.02379	0.005000	0.17040	0.000000	0.08366	0.188000	0.21541	0.4517:0.1062:0.4421:0.0	7.414	0.26207	274	0.89249	.;.	.	.	.	.	.	Likely benign	0	0	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	1002.98	34	chr3	121485178	.	G	A	1002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.508;DP=777;ExcessHet=0.0000;FS=0.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.976;SOR=0.900	GT:AD:DP:GQ:PL	0/1:31,39:70:99:1017,0,717	20	0	1	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	0/1:82,48:142:99:212,0,1285	3	0	14	4
chr3	124796607	124796607	C	T	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.G1015A:p.G339S	.	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.027	B	0.032	B	0.004	N	0.985	D	2.7	M	-3.04	D	0.073	D	0.436	T	0.423	1.936	12.43	-9.34	-2.023	1.207	21.424	0.406	0.00966713533593	0.0025	0.00139776	0.0028	0.0020	0.0007	0	0.0014	0.0039	0.0022	0.0026	0.0026584	411	154602	rs146544547	0.0026	0.0026	0.0025	0.0027	0.0071	0.0026	0.0025	0.0054	0.0048	0.0024	0.0008	0.0235	7.557e-05	0.0016	0.0071	0.0023	0.0037	0.0027	0.0026	0.0026	0.0026	0.0025	0.0025	0.0023	0.0023	0.0021	0.0020	0.0025	0	0.0005	0.0239	0	0.0012	0.0068	0.0024	0.0033	0.0017	0.032	0.44694	D	0.104	0.38160	T	0.027	0.19556	B	0.032	0.22131	B	0.004342	0.33837	N	0.376550	0.985182	0.40248	D	2.19	0.61577	M	-3.04	0.92357	D	-4.36	0.76980	D	0.225	0.25253	0.073	0.83680	D	0.436	0.77580	T	10	0.009069353	0.00205	T	0.009667	0.25267	T	0.443	0.74588	.	.	0.897414439693	0.89640	0.6079610267606178	0.60728	0.231246687605	0.25667	0.314732968807	0.12622	T	0.775286	0.94018	D	-0.241278	0.15187	T	-0.123033	0.61552	T	0.0537767357385228	0.06151	T	0.867413	0.58144	D	0.15972339	0.35864	0.273749	0.53297	0.15972339	0.35864	0.273749	0.53296	-9.752	0.72414	D	.	.	0.110	0.22245	B	.;.	.;.	1.728717	0.22006	15.44	0.91700454378799534	0.20994	0.30022	0.23975	N	AEFDBHCI	0.246388	0.36715	N	-0.795015470330464	0.13439	0.6620696	-1.03859416473203	0.08945	0.4424407	0.999999999926663	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	-9.34	0.00539	1.244000	0.32381	-0.209000	0.10871	-0.773000	0.03420	0.804000	0.29773	0.000000	0.08366	0.177000	0.21203	0.0:0.7953:0.0:0.2047	21.424	0.99955	883	0.28872	.;.	.	.	.	.	.	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	1702.98	35	chr3	124796607	.	C	T	1702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=1096;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-5.310e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1717,0,1820	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,19:101:4:.:.:4,0,2123	7	0	14	0
chr3	129977182	129977182	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G695A:p.R232Q,	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	9	1510	3	0	0	3	0.000992392	.	.	733790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.913	P	0.198	B	0.004	N	1.000	N	1.545	L	0.44	T	-0.954	T	0.111	T	0.333	0.953	8.889	3.51	1.146	1.356	9.421	0.088	.	0.0002	0.0107827	0.0032	0	0.0003	0.0002	0	6.507e-05	0.0013	0.0364	0.0032276	499	154602	rs199889071	0.0018	0.0019	0.0010	0.0026	0.0321	0.0018	0.0017	0.0310	0.0306	0.0002	0.0002	0	0.0003	2.01e-05	0.0027	7.959e-05	0.0022	0.0321	0.0013	0.0013	0.0008	0.0018	0.0386	0.0012	0.0011	0.0341	0.0323	7.217e-05	0	6.533e-05	0	0.0008	0	0	7.352e-05	0.0005	0.0386	0.084	0.33091	T	0.043	0.50809	D	0.913	0.50474	P	0.198	0.36766	B	0.003517	0.34847	N	0.302445	0.999999	0.08975	N	2.365	0.68172	M	0.44	0.56772	T	-2.7	0.57599	D	0.186	0.20262	-0.9542	0.40238	T	0.111	0.39794	T	10	0.003676027	0.00067	T	.	.	.	0.088	0.25558	.	.	0.519514513453	0.51594	0.13597089772795282	0.13521	0.115387954298	0.13013	0.424249410629	0.28421	T	0.88847	0.97715	D	-0.449013	0.01145	T	-0.391293	0.34400	T	0.0365849733857474	0.03083	T	0.736326	0.35642	T	0.071399294	0.15804	0.09796933	0.23341	0.071399294	0.15804	0.09796933	0.23340	-8.578	0.64944	D	.	.	0.185	0.40015	B	.;.	.;.	2.180005	0.27787	17.58	0.98451662555366426	0.41631	0.24434	0.22392	N	AEFDBI	0.067634	0.13304	N	-0.248510343005741	0.31162	1.744669	-0.347352998728708	0.26591	1.469767	0.941983378027235	0.27502	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.42	3.51	0.39297	1.916000	0.39617	2.569000	0.33354	0.676000	0.76740	0.988000	0.36536	0.406000	0.24735	0.008000	0.08271	0.0:0.0:0.7781:0.2219	9.421	0.37716	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1250.98	88	chr3	129977182	.	G	A	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=1684;ExcessHet=0.0000;FS=3.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=2.13;SOR=1.085	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1265,0,1278	20	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.746	D	2.525	M	-6.29	D	1.094	D	0.984	D	0.953	2.043	12.79	5.29	2.648	4.837	14.806	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,15,0:81:99:0|1:130421334_G_C:232,0,2346,427,2390,2816:130421334	15	0	5	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,15,0:81:99:0|1:130421334_G_C:232,0,2346,427,2390,2816:130421334	15	0	5	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:66,0,16,0:82:99:0|1:130421334_G_C:259,454,2844,0,2390,2343,454,2844,2390,2844:130421334	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:66,0,16,0:82:99:0|1:130421334_G_C:259,454,2844,0,2390,2343,454,2844,2390,2844:130421334	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:66,0,16,0:82:99:0|1:130421334_G_C:259,454,2844,0,2390,2343,454,2844,2390,2844:130421334	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,16,0:82:99:0|1:130421334_G_C:259,0,2343,454,2390,2844:130421334	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,16,0:82:99:0|1:130421334_G_C:259,0,2343,454,2390,2844:130421334	0	0	14	6
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	2256.56	51	chr3	130421338	.	T	C,TCACC	2256.56	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-1.635e+00;DP=1199;ExcessHet=7.7275;FS=148.515;InbreedingCoeff=-0.4684;MLEAC=12,1;MLEAF=0.353,0.029;MQ=60.00;MQRankSum=0.00;QD=3.34;ReadPosRankSum=0.071;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,16,0:81:99:0|1:130421334_G_C:262,0,2301,454,2348,2802:130421334	6	0	10	4
chr3	138495055	138495055	A	G	exonic	CEP70	.	nonsynonymous SNV	CEP70:NM_001288967:exon14:c.T1298C:p.I433T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.982	D	0.821	P	0.000	D	1.000	D	2.095	M	0.9	T	-0.473	T	0.270	T	0.816	3.237	16.85	3.77	1.006	4.862	7.378	0.354	0.0587594150774	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435476654	1.991e-05	2.807e-05	1.563e-05	2.42e-05	3.116e-05	1.381e-05	1.189e-05	1.268e-05	1.076e-05	3.116e-05	0	0	2.538e-05	5.652e-05	0	1.974e-05	1.708e-05	1.191e-05	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	9.411e-05	0	0	0	0	0.002	0.72154	D	0.005	0.74150	D	0.982	0.60036	D	0.821	0.59116	P	0.000052	0.53742	D	0.073583	0.913458	0.36473	D	1.845	0.48678	L	0.88	0.58468	T	-2.7	0.61722	D	0.853	0.88027	-0.4726	0.69634	T	0.270	0.64141	T	10	0.73471093	0.74540	D	0.058759	0.67431	D	0.354	0.67510	0.491	0.57732	0.801582363574	0.79972	0.6971864922787324	0.69659	0.33083165783	0.35164	0.665916740894	0.62256	T	0.299223	0.67176	T	0.150058	0.69274	D	-0.0222287	0.68882	D	0.875778377056122	0.52565	D	0.839216	0.51320	T	0.34439278	0.56626	0.34236175	0.59963	0.34439278	0.56626	0.34236175	0.59962	-7.504	0.57638	D	.	.	0.734	0.75762	P	.;.;.;.	.;.;.;.	4.608571	0.73068	25.9	0.99844497586487435	0.92489	0.92940	0.56923	D	AEFBI	0.522609	0.54655	D	0.49961552342615	0.67067	5.032607	0.458941105923913	0.65295	4.805535	0.999674814648336	0.41644	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.93	3.77	0.42499	4.900000	0.62939	9.055000	0.78649	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9022:0.0:0.0978:0.0	7.378	0.26012	382	0.83637	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1061.98	36	chr3	138495055	.	A	G	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.841;DP=829;ExcessHet=0.0000;FS=1.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-1.345e+00;SOR=0.917	GT:AD:DP:GQ:PL	0/1:54,42:96:99:1076,0,1438	20	0	1	0
chr3	148883682	148883682	C	T	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon9:c.C848T:p.T283M,	.	.	443	1077	2	0	0	2	0.000927644	.	.	697880	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	0.999	D	2.86	M	2.54	T	-0.906	T	0.094	T	0.723	2.840	15.46	4.77	2.493	2.917	16.708	0.262	.	0.0052	0.00299521	0.0050	0.0013	0.0010	0	0.0106	0.0074	0.0066	0.0005	0.0049611	767	154602	rs140470073	0.0060	0.0060	0.0062	0.0058	0.0069	0.0059	0.0059	0.0068	0.0068	0.0011	0.0016	0.0005	0	0.0104	0.0007	0.0069	0.0054	0.0006	0.0047	0.0047	0.0046	0.0049	0.0069	0.0044	0.0043	0.0064	0.0061	0.0012	0	0.0050	0	0	0.0115	0	0.0069	0.0024	0.0006	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.997	0.86255	D	0.000139	0.49741	D	0.177723	0.998632	0.45197	D	2.86	0.83026	M	2.54	0.13916	T	-2.78	0.58896	D	0.656	0.66615	-0.9062	0.47308	T	0.094	0.35631	T	10	0.012537181	0.00269	T	.	.	.	0.262	0.57482	.	.	0.519460762563	0.51590	0.7035755361759154	0.70298	0.172313707353	0.19406	0.500486969948	0.38897	T	0.228787	0.59443	T	-0.324975	0.06498	T	-0.233607	0.51421	T	0.0290821585606453	0.01850	T	0.979152	0.92740	D	0.4448134	0.63711	0.40351567	0.64804	0.4448134	0.63712	0.40351567	0.64804	-7.59	0.58241	D	.	.	0.214	0.44319	B	.	.	4.346290	0.66720	25.0	0.99905004022820387	0.97576	0.86085	0.45301	D	AEFBI	0.552100	0.56390	D	0.603474900339483	0.73395	5.958985	0.497893870671693	0.67851	5.139551	0.997490318381651	0.35680	0.632932	0.41330	0	0.573888	0.26702	0	0.573888	0.23631	0	0.755437	0.99637	0	.	.	4.77	4.77	0.60425	1.050000	0.30014	7.138000	0.57644	0.549000	0.26987	0.038000	0.20882	1.000000	0.68203	0.845000	0.39915	0.0:1.0:0.0:0.0	16.708	0.85237	545	0.72614	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase 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	1429.98	35	chr3	148883682	.	C	T	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.049e+00;DP=814;ExcessHet=0.0000;FS=0.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-7.540e-01;SOR=0.825	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1444,0,1574	20	0	1	0
chr3	149982425	149982425	A	C	exonic	TMEM183B	.	nonsynonymous SNV	TMEM183B:NM_001079809:exon1:c.T884G:p.L295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs778931455	1.231e-05	1.231e-05	8.169e-06	1.65e-05	0.0001	7.7e-06	6.35e-06	7.998e-05	6.236e-05	0	0	0	0	0	0	4.497e-06	1.656e-05	0.0001	6.569e-06	1.313e-05	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2899.33	35	chr3	149982425	.	A	C	2899.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.689e+00;DP=927;ExcessHet=0.0000;FS=2.758;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.79;MQRankSum=0.179;QD=11.37;ReadPosRankSum=0.710;SOR=0.832	GT:AD:DP:GQ:PL	0/1:138,117:255:99:2913,0,3772	19	0	1	1
chr3	149982710	149982710	C	T	exonic	TMEM183B	.	nonsynonymous SNV	TMEM183B:NM_001079809:exon1:c.G599A:p.R200Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.942e-05	0	0	0	0	8.99e-05	0	0	3.84e-05	1	26028	rs775775405	1.368e-05	1.368e-05	1.225e-05	1.513e-05	3.478e-05	8.94e-06	7.26e-06	9.24e-06	5.72e-06	0	0	0	2.519e-05	0	0	1.259e-05	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	2975.33	35	chr3	149982710	.	C	T	2975.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.24;DP=899;ExcessHet=0.0000;FS=4.562;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=56.66;MQRankSum=-5.450e-01;QD=13.34;ReadPosRankSum=1.42;SOR=0.506	GT:AD:DP:GQ:PL	0/1:116,107:223:99:2989,0,2722	19	0	1	1
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I	.	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.003	B	0.000	D	0.559	D	0.695	N	2.04	T	-1.012	T	0.071	T	0.153	3.503	17.90	2.38	0.653	0.634	5.602	0.024	.	0.0067	0.00738818	0.0098	0.0017	0.0036	0	0.0062	0.0101	0.0129	0.0262	0.0091267	1411	154602	rs139430962	0.0097	0.0097	0.0091	0.0104	0.0245	0.0096	0.0095	0.0237	0.0233	0.0012	0.0043	0.0010	5.11e-05	0.0066	0.0212	0.0097	0.0089	0.0245	0.0067	0.0067	0.0064	0.0070	0.0278	0.0064	0.0062	0.0240	0.0225	0.0013	0.0011	0.0061	0.0020	0.0002	0.0045	0.0136	0.0098	0.0076	0.0278	0.0	0.91255	D	0.096	0.52060	T	0.001	0.07471	B	0.001	0.04355	B	0.000190	0.48115	D	0.140928	0.558637	0.32194	D	1.78	0.46185	L	0.23	0.64630	T	-0.91	0.30762	N	0.233	0.38438	-1.0122	0.26228	T	0.071	0.28871	T	10	0.003982842	0.00077	T	.	.	.	0.024	0.04979	.	.	0.459818148978	0.45609	0.13923310431093144	0.13846	0.121683234402	0.13713	0.574688792229	0.49339	T	0.002676	0.02065	T	-0.420583	0.01696	T	-0.359329	0.38131	T	0.0941204471095192	0.11697	T	0.592841	0.22456	T	0.54745376	0.69814	0.28995273	0.55016	0.54745376	0.69815	0.28995273	0.55015	-3.511	0.16600	T	.	.	0.076	0.37159	B	.;.;.;.	.;.;.;.	2.139647	0.27245	17.40	0.98046948600260686	0.37835	0.71905	0.35217	D	AEFDGBCIJ	0.150255	0.27451	N	-0.463189237740392	0.23295	1.249935	-0.320018905430494	0.27452	1.523414	0.999999999235656	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.79	2.38	0.28415	0.882000	0.27824	-0.375000	0.09580	0.665000	0.62972	0.997000	0.40164	0.000000	0.08366	0.967000	0.53440	0.1533:0.0862:0.0:0.7605	5.602	0.16638	758	0.50837	.;.;.;.	.	.	.	.	.	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	5680.68	35	chr3	154122017	.	T	A	5680.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.523e+00;DP=1115;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.990e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:74,86:160:99:2290,0,1982	18	0	3	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	0/2:69,5,38:112:99:.:.:895,543,2431,0,1898,1814	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	0/2:69,5,38:112:99:.:.:895,543,2431,0,1898,1814	6	0	2	4
chr3	178842768	178842768	G	A	exonic	KCNMB2	.	nonsynonymous SNV	KCNMB2:NM_001278911:exon5:c.G539A:p.G180E	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.017	B	0.027	B	0.000	D	1.000	D	-0.865	N	3.11	T	-0.894	T	0.011	T	0.338	1.488	10.92	5.96	2.832	3.687	20.422	0.156	0.0135044039846	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs781033629	8.826e-05	8.824e-05	4.765e-05	0.0001	0.0014	7.556e-05	7.102e-05	0.0012	0.0011	0	0	0	0	0	0	3.598e-06	6.624e-05	0.0014	3.94e-05	3.937e-05	2.57e-05	5.373e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.376	0.11334	T	1.0	0.01155	T	0.017	0.17573	B	0.027	0.21085	B	0.000011	0.62929	D	0.154746	0.999832	0.49637	D	-0.05	0.04954	N	3.11	0.08194	T	0.09	0.05917	N	0.142	0.23884	-0.8943	0.48549	T	0.011	0.04321	T	10	0.0176996	0.00379	T	0.013504	0.32951	T	0.156	0.40720	0.463	0.53242	0.043077524339	0.03247	0.6878217481705801	0.68722	1.03228781939	0.75458	0.641217827797	0.58737	T	0.031822	0.22214	T	-0.488675	0.00661	T	-0.504804	0.21850	T	0.0582015658936055	0.06883	T	0.864914	0.56300	D	0.1584665	0.35649	0.2963199	0.55664	0.1584665	0.35649	0.2963199	0.55663	-1.632	0.02058	T	.	.	0.160	0.38693	B	.;.;.;.;.;.	.;.;.;.;.;.	2.719362	0.35566	19.93	0.92681095845324502	0.22167	0.96382	0.68865	D	AEFBI	0.572029	0.57577	D	-0.278118862439741	0.29995	1.668428	0.0254582013448706	0.40901	2.448394	0.991004451670188	0.32341	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	5.96	0.96695	3.364000	0.52052	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.422	0.99051	527	0.73864	.;.;.;.;.;.	.	.	.	.	.	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	1460.98	34	chr3	178842768	.	G	A	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.940e-01;DP=830;ExcessHet=0.0000;FS=1.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=1.50;SOR=0.523	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1475,0,1806	20	0	1	0
chr3	185192284	185192284	C	T	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.G1826A:p.G609E	.	.	429	1091	2	0	0	2	0.000915751	.	.	2205623	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.02	H	-2.14	D	0.995	D	0.867	D	0.724	3.810	19.35	5.04	1.505	7.411	15.056	0.872	0.133481035702	.	.	8.255e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs756205658	1.779e-05	1.779e-05	2.178e-05	1.375e-05	0.0010	1.237e-05	1.051e-05	0.0005	0.0003	0	0	0	0	0	0.0010	1.529e-05	4.967e-05	0	2.629e-05	2.627e-05	1.285e-05	4.037e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.0	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	3.8	0.95404	H	-2.14	0.86415	D	-6.32	0.90852	D	0.62	0.67822	0.995	0.97104	D	0.867	0.95563	D	10	0.88089013	0.87399	D	0.133481	0.81586	D	0.872	0.96170	.	.	0.772181008189	0.77009	0.7878781047520177	0.78739	0.488340668734	0.47638	0.659101843834	0.61280	T	0.618133	0.87992	D	0.246585	0.78279	D	0.180072	0.82000	D	0.998794913291931	0.95188	D	0.821518	0.48098	T	0.88792497	0.90330	0.8893797	0.94223	0.88792497	0.90331	0.8893797	0.94223	-6.357	0.49173	T	0.4635004436433333	0.54526	0.206	0.44501	B	.;.	.;.	4.344390	0.66670	25.0	0.99718419724658347	0.81843	0.98695	0.85684	D	AEFBI	0.963939	0.98596	D	0.930589691440089	0.93175	11.86943	0.823182291133371	0.91357	10.84565	0.999438668646207	0.39683	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.91	5.04	0.67293	7.492000	0.80315	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.9324:0.0:0.0676	15.056	0.71584	666	0.61362	3-hydroxyacyl-CoA dehydrogenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	35	chr3	185192284	.	C	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.524;DP=828;ExcessHet=0.0000;FS=4.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-6.110e-01;SOR=1.201	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1253,0,1859	20	0	1	0
chr3	186150149	186150149	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2242A:p.G748R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.63	L	1.08	T	0.305	D	0.635	D	0.898	3.407	17.51	5.17	2.890	3.552	14.714	0.507	0.0756191474403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.257	0.24767	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.053784	0.999971	0.53665	D	2.055	0.56616	M	-1.5	0.82897	D	-3.88	0.72710	D	0.593	0.61256	0.305	0.87639	D	0.635	0.87238	D	10	0.5520634	0.64311	D	0.075619	0.72333	D	0.507	0.78786	0.249	0.18602	0.933017780686	0.93233	0.7102962554381471	0.70971	0.459601170167	0.45536	0.678146123886	0.64003	T	0.346763	0.71497	T	0.357325	0.87049	D	0.275496	0.86880	D	0.992500960826874	0.83000	D	0.962804	0.86152	D	0.67087865	0.76480	0.65142685	0.79603	0.67087865	0.76481	0.65142685	0.79604	-11.673	0.83222	D	.	.	0.984	0.91905	P	.;.;.	.;.;.	4.983760	0.82574	27.8	0.99841132767212915	0.92143	0.84579	0.43662	D	AEFBI	0.591343	0.58748	D	0.639881009863553	0.75714	6.355309	0.668990091756446	0.80033	7.209598	0.991175241475773	0.32398	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.17	0.70848	3.314000	0.51653	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.856:0.144:0.0	14.714	0.68872	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	260.64	22	chr3	186150149	.	C	T,G	260.64	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.888e+00;DP=691;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.0946;MLEAC=2,1;MLEAF=0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=0.361;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,9,0:39:99:0|1:186150149_C_T:132,0,1100,222,1126,1349:186150149	17	0	2	1
chr3	186150149	186150149	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2242C:p.G748R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.63	L	1.08	T	0.305	D	0.635	D	0.898	3.284	17.03	5.17	2.890	3.552	14.714	0.509	0.0722433925333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.257	0.24767	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.053784	0.999972	0.53665	D	2.055	0.56616	M	-1.5	0.82897	D	-3.88	0.72710	D	0.593	0.61256	0.305	0.87639	D	0.635	0.87238	D	10	0.541586	0.63750	D	0.072243	0.71480	D	0.509	0.78910	0.249	0.18602	0.933017780686	0.93233	0.710296282980216	0.70971	0.459601170167	0.45536	0.678146123886	0.64003	T	0.346763	0.71497	T	0.357322	0.87049	D	0.275492	0.86879	D	0.992132842540741	0.82542	D	0.962804	0.86152	D	0.67087865	0.76480	0.65142685	0.79603	0.67087865	0.76481	0.65142685	0.79604	-11.673	0.83222	D	.	.	0.984	0.91905	P	.;.;.	.;.;.	4.940221	0.81522	27.6	0.99863309659222388	0.94184	0.83581	0.42689	D	AEFBI	0.486162	0.52545	N	0.639881009863553	0.75714	6.355309	0.668990091756446	0.80033	7.209598	0.991175241475773	0.32398	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.17	0.70848	3.314000	0.51653	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.856:0.144:0.0	14.714	0.68872	925	0.17918	.;.;.	.	.	.	.	.	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	0.075	260.64	22	chr3	186150149	.	C	T,G	260.64	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.888e+00;DP=691;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.0946;MLEAC=2,1;MLEAF=0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=0.361;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,9,0:39:99:0|1:186150149_C_T:132,0,1100,222,1126,1349:186150149	17	0	2	1
chr3	186150150	186150150	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241C:p.M747I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.103	B	0.083	B	0.000	D	0.595	N	1.935	M	1.14	T	-0.851	T	0.122	T	0.548	2.696	14.98	5.19	2.890	3.560	12.944	0.123	0.0085120324625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.17578414	0.32528	T	0.008512	0.22507	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.1464589451172773	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731769	0.40820	T	-0.34289	0.40017	T	0.780353784561157	0.45072	D	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.868216	0.56145	23.7	0.99043586559296637	0.51073	0.88944	0.49124	D	AEFBI	0.615783	0.60259	D	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	277.02	22	chr3	186150150	.	C	G	277.02	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.574e+00;DP=616;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.1922;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=2.31;ReadPosRankSum=0.292;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,9:39:99:0|1:186150149_C_T:132,0,1100:186150149	11	0	3	7
chr3	186150151	186150151	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2240C:p.M747T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.945	P	0.652	P	0.000	D	0.650	N	1.59	L	1.05	T	-0.791	T	0.136	T	0.768	2.004	12.66	4.9	2.330	4.437	10.270	0.143	0.0148488252476	.	.	9.186e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs764536140	0	3.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.577e-06	6.569e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.128	0.34959	T	0.945	0.53279	P	0.652	0.52532	P	0.000053	0.53742	D	0.171825	0.649523	0.30545	N	1.43	0.35840	L	1.05	0.42122	T	-3.04	0.62863	D	0.333	0.40665	-0.7914	0.55648	T	0.136	0.45068	T	10	0.20008764	0.36043	T	0.014849	0.35231	T	0.143	0.38195	.	.	0.672509336206	0.66973	0.306322739120449	0.30545	0.213405914334	0.23852	0.605171561241	0.53635	T	0.326708	0.69729	T	-0.0883631	0.38348	T	-0.182557	0.56287	T	0.235707968511018	0.22221	T	0.868613	0.57103	D	0.31741124	0.54420	0.39021182	0.63821	0.31741124	0.54420	0.39021182	0.63821	-8.677	0.67737	D	.	.	0.402	0.59694	A	.;.;.	.;.;.	4.251704	0.64538	24.7	0.9490986179220593	0.25771	0.83225	0.42360	D	AEFBI	0.477544	0.52049	N	0.334716964098364	0.57937	3.963371	0.433533912674598	0.63668	4.605017	0.945156828995575	0.27648	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	4.9	0.63643	4.150000	0.57871	7.078000	0.57462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9229:0.0:0.0771:0.0	10.270	0.42656	925	0.17918	.;.;.	.	.	.	.	.	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	0.1364	283.21	22	chr3	186150151	.	A	G	283.21	.	AC=3;AF=0.136;AN=22;BaseQRankSum=0.482;DP=674;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.2522;MLEAC=5;MLEAF=0.227;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.400;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,9:39:99:0|1:186150149_C_T:132,0,1100:186150149	8	0	3	10
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	0/1:4,4:8:96:96,0,97	9	2	5	5
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	1929.74	302	chr3	195778964	.	C	*,T	1929.74	.	AC=5,2;AF=0.192,0.077;AN=26;BaseQRankSum=1.84;DP=7379;ExcessHet=2.9153;FS=0.592;InbreedingCoeff=-0.2440;MLEAC=7,3;MLEAF=0.269,0.115;MQ=57.13;MQRankSum=-5.602e+00;QD=0.71;ReadPosRankSum=-4.412e+00;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,130,0:524:99:0|1:195778917_G_C:3201,0,15645,4396,16013,20409:195778917	6	0	5	8
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1663.5	302	chr3	195778967	.	G	C,*	1663.5	.	AC=2,3;AF=0.083,0.125;AN=24;BaseQRankSum=2.58;DP=7152;ExcessHet=1.3830;FS=0.614;InbreedingCoeff=-0.1308;MLEAC=3,5;MLEAF=0.125,0.208;MQ=58.02;MQRankSum=0.102;QD=0.77;ReadPosRankSum=-1.159e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:394,0,130:524:99:0|1:195778917_G_C:3201,4396,20409,0,16013,15645:195778917	7	0	2	9
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	0/1:191,116,5:312:99:.:.:3653,0,7959,4143,5540,9280	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	1/1:0,226,0:226:99:.:.:6888,675,0,6888,675,6888	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	0/1:178,307,0:485:99:.:.:11374,0,6463,6753,7369,13279	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:175,0,304:479:99:.:.:11257,6627,13073,0,7287,6389	3	1	2	6
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	0/1:301,147,0:448:99:.:.:3521,0,10623,4426,11062,15488	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	0/1:160,332,0:492:99:.:.:12467,0,3063,12940,4034,16974	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	0/1:179,327,0:506:99:.:.:11103,0,6063,11638,7002,18640	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|1:455,67,0:522:99:0|1:195781128_A_T:1341,0,18766,2706,17720,20182:195781128	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|2:438,0,45:483:99:0|1:195781128_A_T:571,1889,19841,0,18048,18249:195781128	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|2:438,0,45:483:99:0|1:195781128_A_T:571,1889,19841,0,18048,18249:195781128	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|1:429,45,0:474:99:0|1:195781128_A_T:598,0,17877,1919,17879,20006:195781128	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	0/1:413,82,0:497:99:3939,0,16057,3239,16499,21332	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|1:545,239,0:784:99:0|1:195781256_G_C:7373,0,21452,9025,22168,31193:195781256	15	0	2	1
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	0/2:248,36,119:403:99:.:.:3961,3360,15190,0,8966,9990	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	0/1:248,119,0:403:99:.:.:3961,0,9990,4846,10458,15935	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	0/2:248,0,119:403:99:.:.:3961,4846,15935,0,10458,9990	0	3	3	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8196.5	402	chr3	195781639	.	A	T,*	8196.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-1.301e+00;DP=5813;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=56.14;MQRankSum=-9.244e+00;QD=3.89;ReadPosRankSum=-1.029e+00;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:248,0,119:403:99:.:.:3961,4846,15935,0,10458,9990	3	0	1	12
chr3	195781645	195781645	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9935A:p.P3312H,	.	.	536	587	364	31	4	430	0.26625	.	.	2840494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.969	D	0.707	P	.	.	1.000	N	0.55	N	1.5	T	-1.044	T	0.056	T	0.065	0.255	5.379	-1.49	0.088	-1.535	3.617	0.028	.	.	0.00299521	0.0087	0	0.0068	0	0	0.0099	0	0.0117	0.0005886	91	154602	rs62282476	0.0087	0.0069	0.0083	0.0092	0.0137	0.0085	0.0084	0.0125	0.0120	0.0016	0.0008	0.0433	0	0	0.0088	0.0087	0.0111	0.0137	0.0022	0.0024	0.0023	0.0022	0.0088	0.0019	0.0018	0.0058	0.0049	0.0004	0.0185	0.0008	0.0177	0	0	0	0.0030	0.0019	0.0088	0.001	0.78490	D	0.065	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.55	0.21644	N	0.075	0.04913	-1.0436	0.16236	T	0.056	0.23488	T	8	0.0050420463	0.00109	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.006791750257993445	0.00646	.	.	0.461181938648	0.33473	T	.	.	.	-0.319438	0.06943	T	-0.696627	0.06012	T	0.0200654981272231	0.00707	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.;.	.;.	1.995519	0.25356	16.73	0.87079188851090572	0.16974	0.00182	0.01064	N	AEFBI	0.056229	0.10378	N	-0.819753390612407	0.12806	0.6266146	-1.08128031475341	0.08069	0.3951516	1.5455898311315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	-1.49	0.08259	-0.147000	0.10218	0.176000	0.15576	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4971:0.5029:0.0	3.617	0.07624	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	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:248,0,119:403:99:.:.:3961,4846,15935,0,10458,9990	3	0	1	13
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:248,0,119:403:99:.:.:3961,4846,15935,0,10458,9990	3	0	1	13
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8091.5	402	chr3	195781647	.	A	G,*	8091.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-9.110e-01;DP=5805;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=55.79;MQRankSum=-9.225e+00;QD=3.82;ReadPosRankSum=-1.318e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:248,0,119:403:99:.:.:3961,4846,15935,0,10458,9990	3	0	1	12
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6369.68	402	chr3	195781666	.	A	*,G	6369.68	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=1.86;DP=5542;ExcessHet=1.1475;FS=3.216;InbreedingCoeff=0.1231;MLEAC=10,2;MLEAF=0.500,0.100;MQ=54.75;MQRankSum=-7.719e+00;QD=3.17;ReadPosRankSum=-7.700e-01;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:182,155,2:339:99:.:.:6427,0,7413,6189,6375,12301	4	1	4	11
chr3	195781727	195781727	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9853A:p.D3285N	.	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	B	0.004	B	.	.	1.000	N	0	N	1.5	T	-1.003	T	0.029	T	0.019	0.344	5.864	0.423	0.494	-0.452	4.212	0.021	0.000773422716589	.	.	0.0003	0.0030	0	0	0	0	0	0.0001	.	.	.	rs1217189945	0.0001	0.0007	0.0002	0.0001	0.0062	0.0001	0.0001	0.0054	0.0051	0.0062	9.154e-05	0	0.0001	0	0.0003	1.536e-05	0.0001	2.687e-05	0.0001	0.0007	0.0001	0.0001	0.0005	6.831e-05	5.35e-05	0.0001	9.894e-05	0.0003	0	0.0003	0	0.0005	0	0	1.774e-05	0	0	0.207	0.19854	T	0.46	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31731	T	-0.12	0.08809	N	0.056	0.02759	-1.0032	0.28992	T	0.029	0.12365	T	8	0.011815995	0.00257	T	7.73E-4	0.00568	T	0.021	0.04004	.	.	0.0138822411134	0.00435	2.743603196124897E-4	0.00024	.	.	0.540704369545	0.44544	T	.	.	.	-0.401285	0.02271	T	-0.814195	0.01573	T	0.0193586512932325	0.00641	T	0.670833	0.27951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.;.	.;.	2.066037	0.26275	17.06	0.92174777314428225	0.21539	0.00078	0.00535	N	AEFBI	0.051815	0.09190	N	-1.24298654278773	0.04392	0.198147	-1.33118792865804	0.04032	0.1893627	1.24445491729759E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	0.423	0.15679	-1.178000	0.03203	-0.090000	0.12069	0.084000	0.17577	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	1.0E-4:0.5559:0.444:1.0E-4	4.212	0.09970	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2828.33	186	chr3	195781727	.	C	T	2828.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.084e+00;DP=3022;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=47.23;MQRankSum=9.18;QD=10.88;ReadPosRankSum=-1.060e+00;SOR=0.667	GT:AD:DP:GQ:PL	0/1:139,121:260:99:2842,0,4981	19	0	1	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	0/2:148,0,127:275:99:.:.:2626,3076,9171,0,6095,5810	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	0/2:148,0,127:275:99:.:.:2626,3076,9171,0,6095,5810	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	0/2:148,0,127:275:99:.:.:2626,3076,9171,0,6095,5810	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	0/2:148,0,127:275:99:.:.:2626,3076,9171,0,6095,5810	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	0/2:148,0,127:275:99:.:.:2626,3076,9171,0,6095,5810	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	0/1:185,313,0:498:99:.:.:8557,0,4034,7960,5309,14852	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	0/2:374,0,121:495:99:.:.:2845,3109,16834,0,11948,10982	5	0	4	10
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	11928.07	612	chr3	195782605	.	A	*,AGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG	11928.07	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=-3.569e+00;DP=8646;ExcessHet=0.4362;FS=1.176;InbreedingCoeff=-0.0256;MLEAC=6,5;MLEAF=0.273,0.227;MQ=55.03;MQRankSum=-9.332e+00;QD=5.50;ReadPosRankSum=-3.846e+00;SOR=0.586	GT:AD:DP:GQ:PL	0/2:135,0,147:282:99:3295,4356,12013,0,4605,3652	5	0	3	10
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	89047.24	581	chr3	195782949	.	A	G,*	89047.24	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=0.195;DP=11733;ExcessHet=5.3821;FS=0.000;InbreedingCoeff=0.0111;MLEAC=20,2;MLEAF=1.00,0.111;MQ=56.70;MQRankSum=-8.626e+00;QD=21.07;ReadPosRankSum=0.379;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:197,363,0:564:99:.:.:14212,0,3864,15263,5788,26179	0	2	6	12
chr3	195782990	195782990	A	0	exonic	MUC4	.	.	.	.	.	482	988	29	6	17	58	0.0203272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5209.43	568	chr3	195782990	.	A	G,*	5209.43	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=-8.000e-03;DP=9903;ExcessHet=0.3672;FS=4.247;InbreedingCoeff=-0.1947;MLEAC=2,4;MLEAF=0.111,0.222;MQ=55.34;MQRankSum=0.946;QD=5.26;ReadPosRankSum=9.61;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:207,1,118:326:99:.:.:2321,972,15130,0,6025,11757	6	0	1	12
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	0/2:351,0,142:495:99:.:.:1961,3551,22237,0,13552,16029	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	0/1:349,144,1:494:99:.:.:2037,0,15518,3399,13246,19718	6	0	5	7
chr3	195783015	195783015	G	0	exonic	MUC4	.	.	.	.	.	1	211	4	0	10	14	0.00938967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	1248.83	612	chr3	195783015	.	G	*,C	1248.83	.	AC=2,1;AF=0.091,0.045;AN=22;BaseQRankSum=-6.830e-01;DP=10246;ExcessHet=0.3672;FS=2.211;InbreedingCoeff=-0.1458;MLEAC=3,2;MLEAF=0.136,0.091;MQ=55.31;MQRankSum=3.39;QD=0.83;ReadPosRankSum=2.96;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:442,144,0:586:99:0|1:195783015_G_*:2195,0,16441,3899,17446,27389:195783015	8	0	2	10
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	13824.02	469	chr3	195783068	.	G	T,*	13824.02	.	AC=6,3;AF=0.214,0.107;AN=28;BaseQRankSum=1.62;DP=9197;ExcessHet=5.7770;FS=6.457;InbreedingCoeff=-0.2980;MLEAC=8,4;MLEAF=0.286,0.143;MQ=56.56;MQRankSum=-1.160e+01;QD=4.34;ReadPosRankSum=-2.209e+00;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:364,0,233:597:99:0|1:195783044_T_*:2301,4421,25291,0,17720,19129:195783044	5	0	6	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	14051.12	468	chr3	195783070	.	A	C,*	14051.12	.	AC=6,4;AF=0.200,0.133;AN=30;BaseQRankSum=1.87;DP=9244;ExcessHet=6.9875;FS=3.367;InbreedingCoeff=-0.3690;MLEAC=8,5;MLEAF=0.267,0.167;MQ=56.95;MQRankSum=-9.607e+00;QD=3.58;ReadPosRankSum=-2.103e+00;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:344,14,233:591:99:.:.:2437,3610,16735,0,13265,17631	5	0	6	6
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	0/1:427,234,1:662:99:.:.:2603,0,18231,1711,14517,23248	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	0/1:181,197,244:622:99:.:.:4207,0,10183,1420,3413,10737	6	2	8	2
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	10418.23	479	chr3	195783086	.	A	*,G	10418.23	.	AC=5,7;AF=0.179,0.250;AN=28;BaseQRankSum=0.783;DP=8967;ExcessHet=1.0583;FS=3.282;InbreedingCoeff=-0.1323;MLEAC=7,9;MLEAF=0.250,0.321;MQ=57.34;MQRankSum=-1.078e+01;QD=2.74;ReadPosRankSum=-4.326e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:388,244,0:632:99:0|1:195783044_T_*:5047,0,14684,4542,15744,28835:195783044	4	0	4	7
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	0/1:183,205,244:632:99:.:.:10595,0,4285,4175,1461,11209	3	2	9	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4587.88	506	chr3	195783103	.	A	G,*	4587.88	.	AC=6,4;AF=0.300,0.200;AN=20;BaseQRankSum=4.06;DP=8924;ExcessHet=0.4906;FS=4.240;InbreedingCoeff=-0.0371;MLEAC=10,6;MLEAF=0.500,0.300;MQ=58.00;MQRankSum=-1.052e+01;QD=1.60;ReadPosRankSum=-4.436e+00;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:387,0,377:764:99:.:.:5255,7670,29717,0,16220,14480	2	1	3	11
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2897.01	506	chr3	195783105	.	C	T,*	2897.01	.	AC=6,4;AF=0.188,0.125;AN=32;BaseQRankSum=1.38;DP=7813;ExcessHet=0.3364;FS=4.620;InbreedingCoeff=0.1275;MLEAC=7,5;MLEAF=0.219,0.156;MQ=57.99;MQRankSum=-1.166e+01;QD=1.02;ReadPosRankSum=-5.051e+00;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:544,0,77:621:99:.:.:980,3052,26148,0,20433,19542	8	1	3	5
chr3	195783106	195783106	A	0	exonic	MUC4	.	.	.	.	.	522	916	35	26	23	110	0.0453361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2727.94	506	chr3	195783106	.	A	*,G	2727.94	.	AC=4,6;AF=0.125,0.188;AN=32;BaseQRankSum=5.87;DP=7812;ExcessHet=0.3364;FS=3.688;InbreedingCoeff=0.1275;MLEAC=5,7;MLEAF=0.156,0.219;MQ=57.97;MQRankSum=-1.105e+01;QD=0.96;ReadPosRankSum=-4.100e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:544,77,0:621:99:.:.:980,0,19542,3052,20433,26148	8	0	3	5
chr3	195783119	195783119	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8461A:p.D2821N,	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	B	0.0	B	.	.	0.967	N	0.345	N	1.63	T	-0.998	T	0.034	T	0.028	0.684	7.659	.	-0.000	-0.466	4.544	0.017	0.00361977304785	.	.	0.0001	0	0	0	0.0006	0.0002	0	0	2.59e-05	4	154602	rs868560707	0.0003	0.0058	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0.0003	0.0003	0.0006	0.0005	0.0007	0.0002	0.0006	8.471e-05	0.0004	0.0066	0.0005	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0005	0.0007	0	0.0001	0	0.0005	0.0007	0	0.046	0.40573	D	0.092	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.25888	N	.	.	.	1.63	0.28002	T	-0.65	0.18877	N	0.074	0.04790	-0.9984	0.30367	T	0.034	0.14639	T	7	0.04676366	0.03908	T	0.00362	0.08309	T	0.017	0.02790	0.218	0.13932	0.0138822411134	0.00435	4.811599441479893E-5	0.00003	.	.	0.538040757179	0.44169	T	.	.	.	-0.406046	0.02112	T	-0.821033	0.01432	T	0.0261067225224835	0.01420	T	0.627737	0.24333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.;.	.;.	1.127292	0.15138	11.62	0.96387718866879646	0.29640	0.00081	0.00551	N	AEFBI	0.043696	0.06939	N	-1.31332560996001	0.03522	0.1574579	-1.42243953303557	0.03029	0.1405056	1.19599416723631E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.089000	0.01445	-2.543000	0.03628	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5833:0.4166:0.0	4.544	0.11475	601	0.67921	.;.	.	.	.	.	.	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	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:582,0,7:589:99:0|1:195783044_T_*:846,623,30249,0,21116,20663:195783044	11	0	1	5
chr3	195783119	195783119	C	0	exonic	MUC4	.	.	.	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:582,0,7:589:99:0|1:195783044_T_*:846,623,30249,0,21116,20663:195783044	11	0	1	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|1:329,146,0:475:99:0|1:195783836_T_G:5113,0,13332,6103,13791,19894:195783836	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|1:360,139,0:499:99:0|1:195783836_T_G:4736,0,14645,5819,15093,20912:195783836	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	0/1:179,144,93,0,0:416:99:.:.:9200,0,6984,1870,998,8929,8104,7701,8656,16582,8104,7701,8656,16582,16582	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|1:368,201,0:569:99:0|1:195783891_G_A:7002,0,14789,8109,15393,23502:195783891	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	0/1:367,202,0:569:99:.:.:7121,0,11067,8264,12162,21872	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|1:215,168,0:383:99:0|1:195784652_C_G:6225,0,8419,6931,8965,16160:195784652	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|1:227,173,0:400:99:0|1:195784652_C_G:6196,0,8813,7027,9385,16541:195784652	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|2:220,15,171:406:99:0|1:195784652_C_G:6167,6795,16116,0,8987,8612:195784652	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	0/1:188,274,0:468:99:.:.:8392,0,6991,9052,7814,16886	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,756,0:756:99:.:.:27301,2278,0,26751,2293,28458	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	1/1:2,895,0:897:99:.:.:31134,2675,0,31139,2688,31151	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|1:9,5,5:19:4:0|1:195787238_C_*:179,0,359,4,169,364:195787238	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|2:12,5,6:23:45:0|1:195787238_C_*:205,45,581,0,265,438:195787238	6	0	1	1
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|1:208,30,0:238:99:0|1:195788077_G_A:595,0,8624,1222,8714,9935:195788077	6	0	7	5
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1689.47	769	chr3	195788137	.	C	*,G	1689.47	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=1.29;DP=5207;ExcessHet=0.0568;FS=3.338;InbreedingCoeff=0.0920;MLEAC=4,3;MLEAF=0.154,0.115;MQ=52.67;MQRankSum=3.15;QD=0.89;ReadPosRankSum=0.759;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:217,0,26:243:99:1|0:195788077_G_A:131,781,7345,0,6564,6486:195788077	9	0	2	8
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5085.53	769	chr3	195788146	.	A	G,*	5085.53	.	AC=6,2;AF=0.231,0.077;AN=26;BaseQRankSum=5.31;DP=5652;ExcessHet=4.3158;FS=6.139;InbreedingCoeff=-0.2994;MLEAC=8,3;MLEAF=0.308,0.115;MQ=54.57;MQRankSum=-9.562e+00;QD=1.82;ReadPosRankSum=-6.330e-01;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,28,0:276:99:0|1:195788077_G_A:393,0,10289,1138,10373,11511:195788077	5	0	6	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3337.77	769	chr3	195788160	.	G	A,*	3337.77	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=4.67;DP=6056;ExcessHet=4.3158;FS=5.294;InbreedingCoeff=-0.2121;MLEAC=7,2;MLEAF=0.219,0.063;MQ=55.72;MQRankSum=-1.019e+01;QD=1.10;ReadPosRankSum=-3.087e+00;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,24,0:295:99:0|1:195788077_G_A:189,0,11265,1005,11337,12342:195788077	8	0	6	5
chr4	539187	539187	G	A	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon11:c.G2371A:p.A791T	Mental retardation, autosomal recessive 53, Autosomal recessive	.	438	1081	3	0	0	3	0.00138568	.	.	1396550	Intellectual_disability,_autosomal_recessive_53	MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.939	D	0.000	D	1.000	D	2.535	M	1.89	T	-0.960	T	0.166	T	0.723	4.256	22.2	5.91	2.813	6.716	17.790	0.236	0.0128602314542	.	.	2.472e-05	0	8.643e-05	0	0	0	0.0011	6.062e-05	1.94e-05	3	154602	rs771098011	3.697e-05	4.036e-05	2.997e-05	4.403e-05	0.0001	2.896e-05	2.594e-05	5.853e-05	3.761e-05	0.0001	4.472e-05	0	0	0	0	3.78e-05	6.629e-05	1.16e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.409e-05	0	0	0.016	0.51853	D	0.263	0.22962	T	1.0	0.90584	D	0.921	0.67449	D	0.000000	0.84330	D	0.052785	1	0.81001	D	1.6	0.40776	L	1.89	0.23688	T	-2.33	0.51646	N	0.668	0.67650	-0.9596	0.39255	T	0.166	0.50469	T	10	0.7502786	0.75586	D	0.01286	0.31797	T	0.236	0.53931	0.513	0.61153	0.389904358541	0.38601	0.4975092880807593	0.49671	0.619018765651	0.56272	0.487798929214	0.37134	T	0.022471	0.24224	T	-0.0230395	0.48421	T	-0.174017	0.57075	T	0.83707070350647	0.49090	D	0.920308	0.71149	D	0.2546722	0.48497	0.2553335	0.51214	0.2546722	0.48497	0.2553335	0.51213	-5.669	0.43417	T	0.6552967462771384	0.72800	0.119	0.24901	B	.;.;.;.	.;.;.;.	4.740155	0.76438	26.5	0.99914214941967339	0.98309	0.97619	0.75946	D	AEFBI	0.801403	0.72712	D	0.688091156168018	0.78853	6.955769	0.661239366376219	0.79450	7.085046	0.999992539546888	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	5.91	0.95240	6.828000	0.75100	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	17.790	0.88460	788	0.46569	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1123.98	40	chr4	539187	.	G	A	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.741e+00;DP=786;ExcessHet=0.0000;FS=7.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-9.180e-01;SOR=0.231	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1138,0,985	20	0	1	0
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G	Recombination rate QTL 1	.	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.13	B	0.05	B	.	.	1.000	N	1.1	L	0.79	T	-1.023	T	0.076	T	0.031	0.011	4.069	1.28	0.113	0.404	3.029	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1261.11	33	chr4	1081428	.	G	C	1261.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.620;DP=751;ExcessHet=0.1072;FS=1.860;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.67;SOR=0.493	GT:AD:DP:GQ:PL	0/1:20,26:46:99:731,0,553	19	0	2	0
chr4	1737293	1737293	G	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon9:c.G1801A:p.V601M,	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.915	D	0.835	N	1.000	N	1.845	L	2.84	T	-1.041	T	0.055	T	0.333	2.112	13.02	0.354	0.100	0.511	6.943	0.074	0.012362974314	.	.	8.287e-06	0	8.67e-05	0	0	0	0	0	6.5e-06	1	154602	rs761464132	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0009	2.9e-06	2.1e-06	0.0003	0.0002	0	2.236e-05	0	2.519e-05	0	0.0009	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.114	0.36765	T	0.999	0.77913	D	0.915	0.65091	D	0.834767	0.09079	N	0.894418	1	0.08975	N	1.625	0.41611	L	2.84	0.10674	T	-1.21	0.30762	N	0.351	0.39254	-1.0411	0.16981	T	0.055	0.23186	T	10	0.21548584	0.38102	T	0.012363	0.30863	T	0.074	0.21613	0.174	0.08014	0.270889551736	0.26708	0.12797299764545608	0.12722	0.33828758877	0.35804	0.538798868656	0.44276	T	0.104869	0.41482	T	-0.26886	0.11884	T	-0.527121	0.19576	T	0.125419646501541	0.14953	T	0.771423	0.40183	T	0.04516151	0.07345	0.040789634	0.04489	0.04516151	0.07345	0.040789634	0.04489	-4.816	0.34777	T	.	.	0.225	0.45690	B	.	.	2.469455	0.31825	18.86	0.99333801204231231	0.59895	0.44909	0.27422	N	AEFDBCI	0.038984	0.05599	N	-0.409006094837244	0.25153	1.363301	-0.582944636572218	0.19938	1.071969	0.999911772277787	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.54	0.354	0.15300	0.404000	0.20722	3.061000	0.36160	0.671000	0.69459	0.514000	0.27064	0.999000	0.35428	0.025000	0.12405	0.0:0.334:0.3517:0.3143	6.943	0.23684	799	0.44747	.	.	.	.	.	.	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	33	chr4	1737293	.	G	A	3176.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.524e+00;DP=931;ExcessHet=0.1072;FS=2.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.242;SOR=0.572	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1685,0,1737	19	0	2	0
chr4	2908581	2908581	G	A	exonic	ADD1	.	nonsynonymous SNV	ADD1:NM_001119:exon12:c.G1582A:p.V528M	.	.	420	1091	10	1	0	12	0.00546946	.	.	720947	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.997	D	0.000	N	1.000	D	2.125	M	1.94	T	-1.092	T	0.085	T	0.136	3.320	17.16	3.18	0.365	3.072	8.874	0.089	.	0.0065	0.0061901	0.0038	0.0103	0.0021	0	0.0003	0.0037	0.0044	0.0050	0.003661	566	154602	rs146536048	0.0030	0.0030	0.0029	0.0030	0.0112	0.0029	0.0029	0.0103	0.0099	0.0112	0.0026	0.0003	0	0.0005	0.0092	0.0028	0.0040	0.0049	0.0048	0.0048	0.0049	0.0048	0.0108	0.0045	0.0044	0.0099	0.0096	0.0108	0	0.0042	0.0003	0.0002	0.0004	0.0136	0.0027	0.0038	0.0037	0.073	0.34982	T	0.096	0.53072	T	0.2	0.68779	B	0.094	0.73820	B	0.000050	0.53742	N	0.163531	0.999976	0.53665	D	1.935	0.51832	L	1.94	0.22678	T	-1.02	0.53577	N	0.129	0.15469	-1.0920	0.05207	T	0.085	0.33099	T	10	0.008142978	0.00185	T	.	.	.	0.089	0.25827	.	.	0.572330523689	0.56900	0.31456091621226157	0.31369	0.413558589206	0.42056	0.579176902771	0.49969	T	0.033772	0.78911	T	-0.546135	0.00308	T	-0.546874	0.17627	T	0.0272561461115573	0.01580	T	0.906109	0.66926	D	0.04028646	0.05722	0.06579984	0.13387	0.04028646	0.05722	0.06579984	0.13386	-5.416	0.58276	T	0.17262431964768926	0.21827	0.074	0.44885	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.765689	0.22456	15.63	0.99659472759474665	0.77820	0.97963	0.78469	D	AEFBI	0.492124	0.52889	N	0.152081181517446	0.48911	3.097578	0.19337981832247	0.49482	3.150952	0.99683286330942	0.35047	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.91	3.18	0.35615	3.222000	0.50925	1.268000	0.25273	0.676000	0.76740	1.000000	0.71638	0.696000	0.26205	1.000000	0.97212	0.1372:0.1239:0.7389:0.0	8.874	0.34493	581	0.69614	.;.;.;.;.;.;.;.	.	.	.	.	.	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	2796.11	98	chr4	2908581	.	G	A	2796.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.34;DP=866;ExcessHet=0.1072;FS=1.077;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=0.772;SOR=0.781	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1246,0,1571	19	0	2	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	0/1:16,21,0,0,0,0,0:37:99:.:.:699,0,992,829,919,1982,829,919,1982,1982,829,919,1982,1982,1982,829,919,1982,1982,1982,1982,829,919,1982,1982,1982,1982,1982	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	0/1:16,21,0,0,0,0,0:37:99:.:.:699,0,992,829,919,1982,829,919,1982,1982,829,919,1982,1982,1982,829,919,1982,1982,1982,1982,829,919,1982,1982,1982,1982,1982	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	0/1:16,21,0,0,0,0,0:37:99:.:.:699,0,992,829,919,1982,829,919,1982,1982,829,919,1982,1982,1982,829,919,1982,1982,1982,1982,829,919,1982,1982,1982,1982,1982	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	0/1:16,21,0,0,0,0,0:37:99:.:.:699,0,992,829,919,1982,829,919,1982,1982,829,919,1982,1982,1982,829,919,1982,1982,1982,1982,829,919,1982,1982,1982,1982,1982	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	0/1:16,21,0,0,0,0,0:37:99:.:.:699,0,992,829,919,1982,829,919,1982,1982,829,919,1982,1982,1982,829,919,1982,1982,1982,1982,829,919,1982,1982,1982,1982,1982	3	1	1	0
chr4	3074909	3074910	GC	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.84_85del:p.Q29Afs*53,	Huntington disease, Autosomal dominant	.	3	1504	11	3	1	18	0.00561983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs767553699	0.0013	0.0019	0.0012	0.0015	0.0037	0.0013	0.0013	0.0026	0.0025	0.0006	0.0015	0.0065	0	0.0008	0.0037	0.0011	0.0028	0.0029	0.0037	0.0039	0.0041	0.0034	0.0051	0.0035	0.0034	0.0046	0.0045	0.0015	0	0.0043	0.0109	0.0012	0.0011	0.0035	0.0051	0.0069	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	963.1	26	chr4	3074908	.	AGC	A	963.1	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.900e-01;DP=1061;ExcessHet=0.3300;FS=0.896;InbreedingCoeff=-0.0723;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=1.87;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,16:51:99:0|1:3074908_AGC_A:566,0,1401:3074908	18	0	3	0
chr4	3074912	3074927	GCAGCAGCAGCAGCAG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.87_102del:p.Q29Hfs*67,	Huntington disease, Autosomal dominant	.	3	1503	11	3	2	19	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs760691860	0.0013	0.0019	0.0012	0.0014	0.0034	0.0013	0.0012	0.0026	0.0025	0.0005	0.0015	0.0064	0	0.0008	0.0034	0.0011	0.0025	0.0030	0.0036	0.0039	0.0040	0.0032	0.0050	0.0034	0.0033	0.0046	0.0044	0.0015	0	0.0041	0.0109	0.0010	0.0009	0.0035	0.0050	0.0064	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	963.1	26	chr4	3074911	.	AGCAGCAGCAGCAGCAG	A	963.1	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.455e+00;DP=1057;ExcessHet=0.3300;FS=0.896;InbreedingCoeff=-0.0723;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=1.78;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,16:51:99:0|1:3074908_AGC_A:566,0,1401:3074908	18	0	3	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|2:35,0,16:51:99:0|1:3074908_AGC_A:566,672,2122,0,1450,1401:3074908	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|3:35,0,0,16:51:99:0|1:3074908_AGC_A:566,672,2122,672,2122,2122,0,1450,1450,1401:3074908	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|2:35,0,16:51:99:0|1:3074908_AGC_A:566,672,2122,0,1450,1401:3074908	14	0	2	0
chr4	3130311	3130311	A	G	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon14:c.A1874G:p.Q625R,	Huntington disease, Autosomal dominant	.	1	1492	26	3	0	32	0.0106101	.	.	1582210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.572	N	1.61	L	3.5	T	-1.127	T	0.015	T	0.187	2.316	13.70	5.06	2.128	3.601	14.974	0.079	0.00307469766437	0.0060	0.00279553	0.0059	0.0009	0.0029	0	0.0006	0.0078	0.0080	0.0090	0.0056597	875	154602	rs151106561	0.0059	0.0059	0.0058	0.0060	0.0080	0.0058	0.0058	0.0071	0.0069	0.0010	0.0035	0.0182	2.569e-05	0.0010	0.0080	0.0061	0.0074	0.0076	0.0039	0.0039	0.0042	0.0036	0.0057	0.0036	0.0035	0.0053	0.0051	0.0010	0	0.0048	0.0118	0.0002	0.0010	0.0068	0.0057	0.0061	0.0044	0.327	0.13262	T	0.026	0.55759	D	0.002	0.09854	B	0.003	0.08700	B	0.000050	0.53742	D	0.167936	0.571816	0.31172	N	1.1	0.28011	L	3.5	0.05014	T	-1.11	0.28703	N	0.159	0.16586	-1.1266	0.01952	T	0.015	0.06282	T	10	0.0044893026	0.00092	T	0.003075	0.06636	T	0.079	0.23065	.	.	0.302481332339	0.29867	0.14526518922379095	0.14449	0.176767326265	0.19889	0.343192756176	0.16915	T	0.156359	0.49850	T	-0.569926	0.00222	T	-0.584897	0.14111	T	0.0155558761070371	0.00353	T	0.761424	0.52631	T	0.13567653	0.31481	0.16072819	0.37421	0.14039071	0.32392	0.16072819	0.37421	-3.741	0.19925	T	0.09116276268044496	0.05754	0.093	0.16582	B	.;.	.;.	1.891908	0.24027	16.24	0.99241762718833137	0.56565	0.91378	0.53413	D	AEFDBI	0.228202	0.35191	N	-0.0599764683322441	0.39158	2.304722	0.0926252157069326	0.44176	2.704542	0.999986357448469	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.617000	0.53923	2.734000	0.34411	0.756000	0.94297	0.998000	0.41325	0.929000	0.28499	0.997000	0.79791	1.0:0.0:0.0:0.0	14.974	0.70906	456	0.79013	.;.	.	.	.	.	.	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	0.07143	2557.68	73	chr4	3130311	.	A	G	2557.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.863e+00;DP=876;ExcessHet=0.3300;FS=3.717;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=-1.034e+00;SOR=0.482	GT:AD:DP:GQ:PL	0/1:48,34:82:99:807,0,1315	18	0	3	0
chr4	4387705	4387705	C	T	exonic	NSG1	.	nonsynonymous SNV	NSG1:NM_001040101:exon2:c.C76T:p.P26S	.	.	408	1091	20	3	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.25	M	.	.	-0.043	T	0.424	T	0.707	4.421	23.5	3.58	1.720	6.636	15.563	0.836	0.260044410684	0.0022	0.00139776	0.0037	0.0006	0.0016	0	0.0009	0.0042	0.0055	0.0082	0.0031824	492	154602	rs142822048	0.0034	0.0034	0.0032	0.0035	0.0073	0.0033	0.0032	0.0069	0.0067	0.0007	0.0013	0.0036	0	0.0015	0.0066	0.0034	0.0030	0.0073	0.0026	0.0026	0.0027	0.0024	0.0064	0.0024	0.0023	0.0047	0.0040	0.0008	0	0.0016	0.0055	0	0.0015	0.0034	0.0038	0.0047	0.0064	0.005	0.91255	D	0.012	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000260	0.46924	D	0.087374	0.999962	0.52935	D	2.625	0.76847	M	.	.	.	-6.93	0.93404	D	0.944	0.95139	-0.0432	0.81350	T	0.424	0.76829	T	9	0.03500849	0.01730	T	0.260044	0.89470	D	0.836	0.94840	.	.	0.208000267992	0.20380	0.6917166098478376	0.69111	0.649512840078	0.58260	0.744388818741	0.73619	T	0.342433	0.71121	T	-0.106336	0.35373	T	0.0791848	0.75523	D	0.0520396232938029	0.05854	T	0.972903	0.90223	D	0.67425513	0.76661	0.66174376	0.80178	0.67425513	0.76662	0.66174376	0.80179	-3.226	0.12800	T	.	.	0.980	0.91161	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.799676	0.77971	26.8	0.99908833821645204	0.97875	0.95846	0.66404	D	AEFDBHIJ	0.839233	0.75667	D	0.633910298586321	0.75329	6.287108	0.548753122361123	0.71312	5.635457	0.999999999984736	0.74766	0.766844	0.99359	0	0.541168	0.11318	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	3.58	3.58	0.40133	6.811000	0.75010	7.169000	0.57721	0.456000	0.21511	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.563	0.76003	982	0.03397	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1116.98	33	chr4	4387705	.	C	T	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=872;ExcessHet=0.0000;FS=2.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.25;ReadPosRankSum=0.081;SOR=0.879	GT:AD:DP:GQ:PL	0/1:103,51:154:99:1131,0,2512	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	0/1:120,48:168:99:252,0,2782	0	0	21	0
chr4	7838592	7838592	T	C	exonic	AFAP1	.	nonsynonymous SNV	AFAP1:NM_001371090:exon5:c.A658G:p.T220A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.282	B	0.17	B	0.011	N	0.954	N	1.67	L	2.61	T	-1.052	T	0.032	T	0.104	2.251	13.49	3.18	0.735	1.491	6.074	0.074	0.00272488449021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.106	0.38450	T	0.282	0.32132	B	0.17	0.35299	B	0.010893	0.29744	N	0.382449	0.954039	0.26383	N	1.485	0.37223	L	2.61	0.13095	T	-1.91	0.44471	N	0.312	0.41063	-1.0520	0.13845	T	0.032	0.13942	T	10	0.19347855	0.35119	T	0.002725	0.05608	T	0.074	0.21613	0.552	0.66856	0.17948927462	0.17512	0.15503540767068102	0.15424	0.097110365055	0.10970	0.512639820576	0.40591	T	0.330546	0.70072	T	-0.273766	0.11340	T	-0.631022	0.10338	T	0.181670005007532	0.19340	T	0.79482	0.43725	T	0.08175725	0.18801	0.1029768	0.24694	0.08175725	0.18801	0.1029768	0.24694	-5.956	0.46762	T	.	.	0.076	0.06896	B	.;.;.;.	.;.;.;.	1.896223	0.24081	16.26	0.9734578609355371	0.33496	0.74100	0.36245	D	AEFDBHCI	0.081028	0.16390	N	-0.355583756544022	0.27067	1.482145	-0.326875673570454	0.27233	1.509752	0.99999985608968	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.37	3.18	0.35615	1.224000	0.32142	1.348000	0.25786	0.609000	0.47794	1.000000	0.71638	0.996000	0.32793	0.965000	0.52897	0.1532:0.0833:0.0:0.7635	6.074	0.19131	970	0.06235	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1488.98	33	chr4	7838592	.	T	C	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=0.487;SOR=0.643	GT:AD:DP:GQ:PL	0/1:37,60:97:99:1503,0,851	20	0	1	0
chr4	15962801	15962801	G	A	exonic	FGFBP2	.	nonsynonymous SNV	FGFBP2:NM_031950:exon1:c.C329T:p.P110L,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.613	P	0.17	B	0.021	U	1.000	N	0.345	N	2.56	T	-1.014	T	0.016	T	0.178	0.601	7.238	2.98	1.175	0.471	3.970	0.021	0.00344296337646	0.0002	0.000199681	0.0005	0	0	0	0.0033	0.0006	0	8.723e-05	0.0004204	65	154602	rs201297539	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	3.058e-05	2.382e-05	0	2.545e-05	0.0031	0.0002	0.0002	0.0003	6.04e-05	0.0004	0.0004	0.0003	0.0006	0.0005	0.0003	0.0003	0.0004	0.0003	2.405e-05	0	0	0	0	0.0026	0	0.0005	0.0005	0	0.16	0.23721	T	0.0	0.92824	D	0.613	0.39753	P	0.17	0.35299	B	0.020847	0.26953	U	0.292468	1	0.08975	N	0.55	0.14455	N	2.56	0.13673	T	-2.08	0.47514	N	0.124	0.11626	-1.0137	0.25752	T	0.016	0.06329	T	10	0.010526866	0.00234	T	0.003443	0.07755	T	0.021	0.04004	.	.	0.232513804876	0.22884	0.1453532549891838	0.14458	0.186762890968	0.20985	0.328131169081	0.14652	T	0.00354	0.02950	T	-0.558605	0.00259	T	-0.641294	0.09575	T	0.0246854217146879	0.01231	T	0.533547	0.17787	T	0.04332228	0.06732	0.05741088	0.10430	0.04332228	0.06731	0.05741088	0.10430	-3.833	0.21298	T	.	.	0.129	0.27672	B	.	.	1.219670	0.16134	12.34	0.98251154422596076	0.39576	0.03024	0.07904	N	AEFDBCI	0.044576	0.07187	N	-0.608600677885278	0.18686	0.972068	-0.666841463206051	0.17791	0.9476232	0.981533446236117	0.30276	0.553676	0.25195	0	0.588015	0.36545	0	0.574621	0.27300	0	0.542086	0.14980	0	.	.	2.98	2.98	0.33575	0.558000	0.23174	0.946000	0.22888	0.662000	0.56354	0.001000	0.13787	0.005000	0.19230	0.015000	0.10482	0.1351:0.0:0.6061:0.2589	3.970	0.08940	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	0.02381	1726.98	48	chr4	15962801	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=1343;ExcessHet=0.0000;FS=6.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=1.00;SOR=0.348	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1741,0,1791	20	0	1	0
chr4	38827598	38827598	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C1876T:p.R626C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.874	P	0.301	B	0.705	N	1.000	N	2.36	M	2.95	T	-1.049	T	0.041	T	0.244	1.707	11.67	3.45	1.033	3.260	11.861	0.191	0.0102259169423	.	.	4.942e-05	0	0	0.0001	0	4.495e-05	0	0.0001	3.88e-05	6	154602	rs778712154	3.762e-05	3.831e-05	3.539e-05	3.988e-05	5.797e-05	2.959e-05	2.655e-05	3.171e-05	2.836e-05	2.987e-05	0	0	5.038e-05	0	0	4.137e-05	1.656e-05	5.797e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.874	0.48047	P	0.301	0.41090	B	0.705435	0.10058	N	0.861964	0.830654	0.28764	N	2.655	0.77738	M	2.95	0.09635	T	-4.29	0.76414	D	0.219	0.30687	-1.0489	0.14705	T	0.041	0.17785	T	10	0.34923333	0.51821	T	0.010226	0.26522	T	0.191	0.46948	0.579	0.70476	0.420570264827	0.41677	0.4596369051935611	0.45881	0.575392335939	0.53539	0.213695436716	0.00978	T	0.384649	0.74623	T	-0.320225	0.06878	T	-0.495103	0.22857	T	0.564520359039307	0.35026	D	0.967103	0.88031	D	0.14232925	0.32760	0.13779625	0.32927	0.14232925	0.32759	0.13779625	0.32926	-8.123	0.61906	D	.	.	0.105	0.19235	B	.;.	.;.	2.601557	0.33767	19.44	0.99736132439018288	0.83119	0.90924	0.52520	D	AEFGBCI	0.528627	0.55007	D	-0.142515175724436	0.35555	2.043656	-0.239334838206252	0.30141	1.694513	0.999980806377863	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.59522	0.37078	0	.	.	4.29	3.45	0.38602	3.531000	0.53302	4.095000	0.41830	-0.800000	0.03169	0.921000	0.31989	0.840000	0.27292	0.002000	0.04165	0.0871:0.0:0.9129:0.0	11.861	0.51745	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	3134.98	92	chr4	38827598	.	G	A	3134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.025e+00;DP=1803;ExcessHet=0.0000;FS=2.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.90;MQRankSum=1.08;QD=14.58;ReadPosRankSum=-1.218e+00;SOR=0.568	GT:AD:DP:GQ:PL	0/1:100,115:215:99:3149,0,2640	20	0	1	0
chr4	39448439	39448439	G	A	exonic	KLB	.	nonsynonymous SNV	KLB:NM_175737:exon5:c.G2888A:p.S963N,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2395954	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.011	B	0.037	B	0.047	N	0.988	N	1.215	L	1.45	T	-1.010	T	0.047	T	0.068	1.209	9.909	2.05	0.348	1.829	5.124	0.014	0.0035801091504	.	0.000199681	5.779e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs201588988	3.42e-05	3.42e-05	2.042e-05	4.813e-05	0.0004	2.631e-05	2.375e-05	0.0003	0.0003	0	0	0	0	0	0.0002	1.169e-05	1.656e-05	0.0004	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.399	0.10517	T	0.201	0.27503	T	0.011	0.15914	B	0.037	0.23121	B	0.046760	0.23409	N	0.542364	0.988029	0.24455	N	1.565	0.39561	L	1.45	0.32482	T	-0.61	0.18042	N	0.136	0.13341	-1.0095	0.27074	T	0.047	0.20037	T	10	0.02849403	0.00981	T	0.00358	0.08185	T	0.014	0.01968	0.387	0.40788	0.305410167561	0.30157	0.3618697765261315	0.36100	0.00690958607625	0.00608	0.31577116251	0.12780	T	0.017379	0.14191	T	-0.493926	0.00618	T	-0.6253	0.10773	T	0.0759809911251068	0.09466	T	0.475952	0.14261	T	0.27434805	0.50501	0.1158091	0.27956	0.27434805	0.50501	0.1158091	0.27955	-5.548	0.42315	T	.	.	0.094	0.14293	B	.	.	1.743707	0.22184	15.52	0.92039662772659703	0.21381	0.79884	0.39675	D	AEFDBHCI	0.210004	0.33594	N	-0.647117020359188	0.17544	0.9036885	-0.560121176051145	0.20537	1.106941	0.999999589464487	0.74766	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.78	2.05	0.25860	1.165000	0.31432	3.290000	0.37298	-0.165000	0.11486	0.393000	0.26112	0.997000	0.33255	0.481000	0.28588	0.1308:0.1246:0.6294:0.1152	5.124	0.14206	543	0.72751	.	.	.	.	.	.	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	1745.98	34	chr4	39448439	.	G	A	1745.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.227;DP=824;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.325;SOR=0.788	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1760,0,1710	20	0	1	0
chr4	42143789	42143789	T	C	exonic	BEND4	.	nonsynonymous SNV	BEND4:NM_001159547:exon3:c.A693G:p.I231M	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.259	B	0.064	B	0.079	N	0.806	D	0	N	.	.	-1.116	T	0.044	T	0.274	1.470	10.86	-3.9	-0.200	0.654	3.259	0.046	0.00465492384018	0.0012	0.00119808	0.0017	0.0012	0.0014	0	0.0005	0.0019	0.0012	0.0028	0.0016235	251	154602	rs146288414	0.0020	0.0020	0.0019	0.0020	0.0030	0.0019	0.0019	0.0022	0.0021	0.0014	0.0018	0.0003	0	0.0005	0.0030	0.0021	0.0022	0.0025	0.0017	0.0017	0.0018	0.0015	0.0025	0.0015	0.0014	0.0016	0.0015	0.0018	0	0.0018	0.0003	0	9.411e-05	0.0068	0.0019	0.0024	0.0025	0.042	0.41637	D	0.077	0.45961	T	0.053	0.22573	B	0.029	0.21540	B	0.078888	0.21017	N	0.487974	0.805516	0.34569	D	0	0.06538	N	.	.	.	-0.62	0.22078	N	0.334	0.43995	-1.1156	0.02630	T	0.044	0.18742	T	9	0.004888147	0.00104	T	0.004655	0.11534	T	0.046	0.12618	.	.	0.043077524339	0.03247	0.07599990172989807	0.07535	0.2788373971	0.30363	0.271804660559	0.06378	T	0.018804	0.15093	T	-0.440935	0.01277	T	-0.4092	0.32318	T	0.0233211625925542	0.01062	T	0.79872	0.44372	T	0.043015942	0.06629	0.051964298	0.08468	0.043015942	0.06629	0.051964298	0.08468	-3.004	0.10224	T	.	.	0.066	0.03925	B	.;.;.	.;.;.	0.657439	0.10261	6.994	0.98443850149149592	0.41542	0.67824	0.33574	D	AEFDBI	0.152034	0.27663	N	-0.920931246388658	0.10354	0.4943356	-0.868503493122846	0.12844	0.6630264	0.109037892330663	0.16597	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.52	-3.9	0.03904	0.761000	0.26154	0.039000	0.13841	-0.133000	0.13014	1.000000	0.71638	0.843000	0.27318	0.008000	0.08271	0.2021:0.0631:0.2852:0.4496	3.259	0.06436	624	0.65661	.;.;.	.	.	.	.	.	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	2742.98	33	chr4	42143789	.	T	C	2742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e-01;DP=925;ExcessHet=0.0000;FS=1.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-1.106e+00;SOR=0.642	GT:AD:DP:GQ:PL	0/1:106,103:209:99:2757,0,2905	20	0	1	0
chr4	47643044	47643044	G	A	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_001278586:exon14:c.C2059T:p.H687Y,	Preeclampsia/eclampsia 5	.	1	1508	13	0	0	13	0.00429185	.	.	1687522	not_provided|CORIN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	.	.	1.000	N	.	.	-3.1	D	-0.753	T	0.291	T	0.037	0.437	6.376	2.73	0.500	2.864	8.694	0.213	.	.	0.00439297	0.0264	0.0043	0.0254	0	0.0790	0.0414	0.0338	0.0022	0.0093013	1438	154602	rs55932196	0.0099	0.0100	0.0101	0.0097	0.0109	0.0098	0.0097	0.0107	0.0106	0.0012	0.0051	0.0083	0	0.0224	0.0051	0.0109	0.0078	0.0027	0.0089	0.0089	0.0086	0.0093	0.0128	0.0085	0.0084	0.0121	0.0118	0.0023	0.0154	0.0066	0.0107	0	0.0207	0.0136	0.0128	0.0071	0.0008	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.1	0.92667	D	-0.48	0.15379	N	0.097	0.07811	-0.7534	0.57757	T	0.291	0.66230	T	8	0.004630983	0.00097	T	.	.	.	0.213	0.50496	.	.	0.63021950896	0.62719	.	.	.	.	.	.	.	0.23038	0.59643	T	-0.43095	0.01463	T	-0.38013	0.35707	T	0.0780477859281067	0.09736	T	0.267673	0.04439	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09336	B	.	.	1.123995	0.15098	11.59	0.46540044281047255	0.03735	0.69705	0.34294	D	AEFGBCI	0.181985	0.30930	N	-0.847287756427463	0.12116	0.5886915	-0.786794312970389	0.14819	0.7762992	0.999973057912888	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.35	2.73	0.31266	1.699000	0.37423	1.226000	0.25010	-0.106000	0.15538	0.948000	0.32982	0.011000	0.20116	0.006000	0.07323	0.2404:0.0:0.7596:0.0	8.694	0.33443	417	0.81662	.	.	.	.	.	rs55932196	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2156.98	34	chr4	47643044	.	G	A	2156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.820e-01;DP=872;ExcessHet=0.0000;FS=2.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-9.620e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:93,79:172:99:2171,0,2522	20	0	1	0
chr4	55102484	55102484	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon14:c.G2012A:p.G671E,	Hemangioma, capillary infantile, somatic	.	2	1513	7	0	0	7	0.00230795	.	.	920724	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.4	B	0.243	B	0.005	N	0.994	D	-0.705	N	-0.18	T	-0.915	T	0.096	T	0.486	0.878	8.563	5.17	1.522	2.058	16.946	0.219	0.0235904900503	0.0002	0.000399361	0.0002	9.612e-05	0	0	0	0.0003	0.0011	0.0005	0.0002264	35	154602	rs149740758	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	8.969e-05	0.0005	3.828e-05	0	0	0.0026	9.175e-05	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	2.406e-05	0	0.0004	0.0003	0	0	0.0068	0.0002	0.0005	0.0004	0.318	0.13654	T	0.257	0.23231	T	0.4	0.34852	B	0.243	0.38752	B	0.004804	0.33369	N	0.332281	0.994303	0.42233	D	-0.265	0.03777	N	-0.18	0.65747	T	0.34	0.03824	N	0.285	0.32259	-0.9149	0.46233	T	0.096	0.36133	T	10	0.0712392	0.10474	T	0.02359	0.46557	T	0.219	0.51417	.	.	0.134007934775	0.12933	0.7559511456578014	0.75543	0.210862529731	0.23587	0.547307491302	0.45478	T	0.07849	0.35903	T	-0.271478	0.11593	T	-0.291477	0.45618	T	0.034966227377001	0.02802	T	0.765923	0.39354	T	0.19775377	0.41652	0.114104606	0.27542	0.19775377	0.41652	0.114104606	0.27541	-0.419	0.00536	T	.	.	0.096	0.15341	B	.;.	.;.	2.371955	0.30435	18.44	0.87929882265626835	0.17588	0.93549	0.58520	D	AEFBI	0.370170	0.45664	N	-0.532072375761519	0.21050	1.114243	-0.374925991644683	0.25746	1.417808	0.999977652612898	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	5.17	0.70848	1.603000	0.36404	4.225000	0.42617	0.599000	0.40250	0.637000	0.28059	0.999000	0.35428	0.182000	0.21359	0.0:0.8719:0.1281:0.0	16.946	0.86101	709	0.56835	Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|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	1188.98	33	chr4	55102484	.	C	T	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.040e-01;DP=801;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-8.450e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1203,0,1022	20	0	1	0
chr4	56486329	56486329	T	G	exonic	SRP72	.	nonsynonymous SNV	SRP72:NM_001267722:exon9:c.T908G:p.F303C	Bone marrow failure syndrome 1, Autosomal dominant	.	291	1228	3	0	0	3	0.00122001	.	.	2877906	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.956	D	0.000	D	1.000	D	1.91	M	1.2	T	-0.915	T	0.168	T	0.842	3.606	18.36	4.29	0.884	4.492	8.701	0.231	0.0391354439411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.02	0.61642	D	0.999	0.77913	D	0.956	0.69739	D	0.000002	0.62929	D	0.138728	1	0.81001	D	2.505	0.72935	M	1.2	0.37405	T	-4.67	0.79571	D	0.746	0.74553	-0.9147	0.46259	T	0.168	0.50697	T	10	0.6710621	0.70715	D	0.039135	0.58635	D	0.231	0.53208	0.475	0.55182	0.648095352874	0.64517	0.5288104087427561	0.52805	0.918765570636	0.71367	0.791393280029	0.80654	T	0.242373	0.61110	T	0.170903	0.71206	D	0.00771379	0.70834	D	0.995098054409027	0.86821	D	0.965003	0.87031	D	0.45226026	0.64184	0.25779724	0.51502	0.45226026	0.64185	0.25779724	0.51501	-8.992	0.67897	D	0.2656447897738771	0.35812	0.625	0.70394	P	.;.;.	.;.;.	4.028007	0.59538	24.1	0.99204865245010843	0.55412	0.98729	0.86106	D	AEFBI	0.696259	0.65466	D	0.460849591294881	0.64819	4.745496	0.443817502823094	0.64322	4.684586	0.998853541526757	0.37823	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	4.29	0.50359	4.300000	0.58876	4.437000	0.43372	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1693:0.0:0.0:0.8306	8.701	0.33484	571	0.70397	.;.;.	.	.	.	.	.	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	1059.98	33	chr4	56486329	.	T	G	1059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.141;DP=791;ExcessHet=0.0000;FS=3.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=-1.530e+00;SOR=1.046	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1074,0,1454	20	0	1	0
chr4	68064747	68064747	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C953T:p.S318F,	.	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.919	P	0.407	B	0.004	N	0.992	D	0.835	L	-2.55	D	-0.007	T	0.429	T	0.13	2.642	14.79	4.0	1.488	1.369	12.357	0.374	.	0.0082	0.00259585	0.0086	0.0013	0.0022	0	0.0089	0.0136	0.0055	0.0024	0.0085445	1321	154602	rs143544573	0.0088	0.0088	0.0088	0.0088	0.0104	0.0087	0.0086	0.0102	0.0102	0.0012	0.0028	0.0039	5.04e-05	0.0076	0.0071	0.0104	0.0072	0.0018	0.0069	0.0069	0.0071	0.0067	0.0113	0.0065	0.0064	0.0107	0.0104	0.0016	0	0.0056	0.0035	0.0002	0.0076	0	0.0113	0.0104	0.0014	0.001	0.78490	D	0.002	0.79402	D	0.919	0.50927	P	0.407	0.44712	B	0.003800	0.34487	N	0.207319	0.992056	0.41543	D	1.565	0.39561	L	-2.55	0.89561	D	-4.65	0.79399	D	0.247	0.27910	-0.0072	0.82107	T	0.429	0.77120	T	10	0.0052728355	0.00115	T	.	.	.	0.374	0.69273	.	.	0.860412130432	0.85906	0.6030460757054907	0.60235	0.0744376115572	0.08353	0.428454965353	0.28998	T	0.344002	0.71257	T	-0.38425	0.02928	T	-0.311099	0.43541	T	0.059439575268213	0.07080	T	0.727827	0.34232	T	0.44317266	0.63607	0.4944546	0.70761	0.44317266	0.63607	0.4944546	0.70762	-7.215	0.55589	T	.	.	0.120	0.24666	B	.	.	1.890388	0.24013	16.24	0.99747241083990501	0.84002	0.76726	0.37653	D	AEFI	0.169536	0.29637	N	0.156847973713837	0.49137	3.117465	0.204558714955639	0.50100	3.205632	1.28248467279848E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.0	0.45673	1.089000	0.30501	.	.	0.676000	0.76740	0.308000	0.25396	0.972000	0.29809	0.913000	0.44837	0.0:0.0:0.6819:0.3181	12.357	0.54509	931	0.16308	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2399.11	38	chr4	68064747	.	G	A	2399.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.555;DP=884;ExcessHet=0.1072;FS=0.515;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.493;SOR=0.618	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1178,0,1713	19	0	2	0
chr4	75860903	75860903	C	T	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon17:c.G2026A:p.E676K,	.	.	.	.	.	.	.	.	.	.	.	2331643	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.54	M	-0.22	T	0.058	D	0.524	D	0.937	5.256	33	6.07	2.884	5.619	18.138	0.532	0.185721498854	0.0002	.	0.0002	9.612e-05	8.639e-05	0	0	0.0003	0	6.065e-05	0.0001617	25	154602	rs138073376	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0.0002	0	2.519e-05	7.488e-05	0.0002	0.0003	0.0004	3.478e-05	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0003	0	0	9.411e-05	0	0.0002	0.0014	0	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.051093	0.999995	0.58761	D	2.99	0.85699	M	-0.22	0.66474	T	-3.64	0.69835	D	0.873	0.87049	0.058	0.83401	D	0.524	0.82273	D	10	0.8612442	0.85345	D	0.185721	0.85830	D	0.532	0.80307	.	.	0.932986529702	0.93230	0.9184839727054792	0.91824	0.686946815041	0.60353	0.713418602943	0.69089	T	0.61793	0.87983	D	0.123622	0.66734	D	0.241519	0.85219	D	0.410692984053093	0.29344	T	0.989851	0.96764	D	0.6884318	0.77426	0.656627	0.79894	0.6884318	0.77428	0.656627	0.79895	-9.366	0.70022	D	.	.	0.590	0.68454	P	.	.	4.799474	0.77971	26.8	0.99885647183186654	0.96049	0.96549	0.69696	D	AEFBI	0.796889	0.72389	D	0.869105619843096	0.90168	10.28242	0.846321536304119	0.92798	11.63896	0.999999999797832	0.74766	0.603402	0.35316	0	0.573888	0.26702	0	0.618467	0.43123	0	0.663205	0.64265	0	.	.	6.07	6.07	0.98675	5.695000	0.67940	5.713000	0.49433	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.138	0.89558	903	0.23940	EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain|EF-hand 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	736.98	33	chr4	75860903	.	C	T	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=780;ExcessHet=0.0000;FS=2.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.224;SOR=0.427	GT:AD:DP:GQ:PL	0/1:43,30:73:99:751,0,1133	20	0	1	0
chr4	76179684	76179684	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_005506:exon4:c.G445A:p.V149M,	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	2	1517	3	0	0	3	0.000987817	.	.	201794	SCARB2-related_disorder|Action_myoclonus-renal_failure_syndrome|Progressive_myoclonic_epilepsy|not_provided|Inborn_genetic_diseases|not_specified	.|MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.047	B	0.029	B	0.000	N	1.000	N	0	N	-0.59	T	-0.940	T	0.113	T	0.077	2.451	14.15	-6.54	-1.657	-0.906	8.422	0.082	0.0114500858662	0.0025	0.000998403	0.0021	0.0008	0.0016	0	0.0002	0.0031	0.0066	0.0004	0.001934	299	154602	rs147159813	0.0029	0.0029	0.0029	0.0028	0.0034	0.0028	0.0028	0.0033	0.0033	0.0005	0.0027	3.827e-05	0	0.0002	0.0026	0.0034	0.0032	0.0004	0.0022	0.0022	0.0022	0.0021	0.0052	0.0020	0.0019	0.0042	0.0039	0.0005	0	0.0052	0	0	0.0003	0.0102	0.0032	0.0033	0.0002	0.141	0.25560	T	0.227	0.25362	T	0.047	0.21998	B	0.029	0.21540	B	0.000037	0.00348	N	4.113450	1	0.08975	N	-0.345	0.03330	N	-0.59	0.71543	T	0.43	0.03297	N	0.192	0.21056	-0.9402	0.42584	T	0.113	0.40307	T	10	0.0034089088	0.00060	T	0.01145	0.29087	T	0.082	0.23913	.	.	0.248417906384	0.24464	0.2700136440655256	0.26914	0.238332228865	0.26378	0.287140756845	0.08508	T	0.081393	0.36587	T	-0.566851	0.00231	T	-0.586066	0.14009	T	0.00189818317467253	0.00019	T	0.672833	0.28129	T	0.118628524	0.27946	0.12776202	0.30749	0.118628524	0.27946	0.12776202	0.30748	-4.589	0.32033	T	0.09611518049538707	0.06615	0.128	0.29724	B	.;.;.;.;.	.;.;.;.;.	0.076011	0.04833	1.432	0.95104874609117007	0.26185	0.18012	0.20082	N	AEFBHCI	0.060632	0.11535	N	-1.43665833772221	0.02323	0.1024735	-1.49079410842702	0.02419	0.1112351	0.999999978334428	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.95	-6.54	0.01692	-0.696000	0.05205	-0.104000	0.11907	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.0:0.2281:0.2193:0.5526	8.422	0.31871	892	0.26670	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1257.98	33	chr4	76179684	.	C	T	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.196e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1272,0,1466	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	0|1:18,14,0:32:99:0|1:87615730_ATAG_A:518,0,687,407,732,1133:87615730	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	0|1:18,6,0:24:99:0|1:87615730_ATAG_A:509,0,813,200,709,955:87615730	0	2	2	0
chr4	88423879	88423879	G	A	exonic	HERC6	.	nonsynonymous SNV	HERC6:NM_001165136:exon14:c.G1733A:p.R578Q	.	.	.	.	.	.	.	.	.	.	.	721112	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.009	B	0.002	B	0.761	N	1.000	N	-0.345	N	1.2	T	-1.010	T	0.012	T	0.036	1.037	9.237	-6.47	-1.369	-2.341	8.243	0.032	.	0.0084	0.0115815	0.0067	0.0601	0.0034	0	0	0.0003	0	0.0001	0.0026196	405	154602	rs61734924	0.0008	0.0009	0.0009	0.0007	0.0308	0.0008	0.0008	0.0292	0.0285	0.0308	0.0016	0	0	0	0.0014	4.738e-05	0.0024	5.318e-05	0.0094	0.0094	0.0098	0.0089	0.0323	0.0090	0.0088	0.0309	0.0303	0.0323	0	0.0040	0	0	0	0.0034	8.826e-05	0.0066	0	0.513	0.07425	T	0.789	0.04207	T	0.009	0.15093	B	0.002	0.06944	B	0.761299	0.06541	N	1.146940	1	0.08975	N	-0.155	0.04359	N	1.2	0.38236	T	0.22	0.06138	N	0.077	0.05162	-1.0096	0.27043	T	0.012	0.04558	T	10	0.0015139878	0.00017	T	.	.	.	0.032	0.07718	.	.	0.107399877778	0.10242	0.09467319035455814	0.09399	0.17690109213	0.19905	0.217533454299	0.01172	T	6.4E-4	0.00278	T	-0.709457	0.00032	T	-0.767487	0.02852	T	0.00261547141016889	0.00027	T	0.691931	0.30130	T	0.02655087	0.01727	0.033303693	0.02203	0.02655087	0.01727	0.033303693	0.02202	-4.299	0.39456	T	.	.	0.074	0.05060	B	.;.	.;.	-0.509373	0.01836	0.146	0.88112122945250526	0.17725	0.00293	0.01568	N	AEFI	0.025156	0.01678	N	-1.34486097178169	0.03178	0.1415541	-1.3510666506596	0.03793	0.177672	0.020511544084308	0.13265	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.77	-6.47	0.01731	-2.228000	0.01292	-2.632000	0.03527	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.2403:0.0:0.6293:0.1305	8.243	0.30833	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	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	1071.98	34	chr4	88423879	.	G	A	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=775;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-2.500e-02;SOR=0.846	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1086,0,1005	20	0	1	0
chr4	98421272	98421272	T	G	exonic	RAP1GDS1	.	nonsynonymous SNV	RAP1GDS1:NM_001100430:exon10:c.T1045G:p.L349V	Lymphocytic leukemia, acute T-cell (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.932	P	0.671	P	0.000	D	1.000	D	2.125	M	2.53	T	-0.806	T	0.203	T	0.693	3.680	18.70	3.77	1.440	2.292	11.242	0.245	0.0308383279193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200577608	1.098e-05	1.094e-05	8.196e-06	1.38e-05	1.352e-05	6.5e-06	5.26e-06	8.12e-06	6.44e-06	0	0	0	0	0	0	1.352e-05	1.664e-05	0	6.566e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.65419	D	0.009	0.67890	D	0.787	0.44504	P	0.322	0.41795	B	0.000002	0.62929	D	0.000000	0.999965	0.52935	D	2.275	0.64647	M	0.51	0.55439	T	-2.09	0.49352	N	0.588	0.61680	-0.8056	0.54813	T	0.203	0.56003	T	10	0.403409	0.55726	T	0.030838	0.53060	D	0.245	0.55201	.	.	0.543415583544	0.53994	0.33578268624573593	0.33491	0.347118109405	0.36606	0.779404878616	0.78838	T	0.12738	0.45437	T	0.0674056	0.60531	T	-0.140953	0.60036	T	0.782395601272583	0.45200	D	0.971903	0.89805	D	0.5341842	0.69069	0.32115975	0.58066	0.5341842	0.69070	0.32115975	0.58065	-5.01	0.36948	T	.	.	0.214	0.46949	B	.;.;.;.;.;.	.;.;.;.;.;.	3.470223	0.48408	22.6	0.99694287388600411	0.80180	0.94850	0.62546	D	AEFDGBIJ	0.562419	0.57002	D	-0.103322887100947	0.37247	2.164339	-0.00209985163061462	0.39621	2.351988	0.99994972624286	0.47345	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	3.77	0.42499	2.336000	0.43597	2.696000	0.34125	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7837:0.0:0.2163	11.242	0.48205	895	0.25842	.;.;.;.;.;.	.	.	.	.	.	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	948.98	35	chr4	98421272	.	T	G	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.138;SOR=0.737	GT:AD:DP:GQ:PL	0/1:33,38:71:99:963,0,790	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	0/1:97,51:148:99:296,0,1468	2	0	18	1
chr4	99318127	99318127	T	A	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.A178T:p.T60S	.	.	419	1084	19	0	0	19	0.0086877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.011	B	0.264	N	1.000	N	-0.265	N	3.57	T	-0.941	T	0.003	T	0.076	-0.618	1.251	-8.83	-2.727	-3.247	2.290	0.017	.	0.0038	0.00419329	0.0066	0.0010	0.0033	0	0.0426	0.0067	0.0110	0.0008	0.0063195	977	154602	rs6413413	0.0074	0.0074	0.0076	0.0072	0.0125	0.0073	0.0073	0.0102	0.0093	0.0015	0.0031	0.0029	0	0.0357	0.0125	0.0072	0.0068	0.0019	0.0071	0.0071	0.0055	0.0088	0.0071	0.0068	0.0066	0.0066	0.0063	0.0009	0	0.0046	0.0014	0	0.0437	0	0.0071	0.0066	0.0023	0.741	0.03685	T	0.327	0.18732	T	.	.	.	.	.	.	0.264414	0.03730	N	1.685470	1	0.08975	N	.	.	.	3.57	0.04645	T	0.01	0.06868	N	0.06	0.03841	-0.9406	0.42521	T	0.003	0.01026	T	10	0.0034271777	0.00060	T	.	.	.	0.017	0.02790	0.233	0.16155	0.130388298395	0.12655	0.25660200605964073	0.25574	0.151826184999	0.17133	0.269030928612	0.06014	T	0.007529	0.06930	T	-0.74619	0.00019	T	-0.83978	0.01102	T	0.00319479584988876	0.00034	T	0.232977	0.03169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.28976	B	.;.;.;.	.;.;.;.	-1.877619	0.00133	0.002	0.22109662835778326	0.00874	0.03795	0.09121	N	AEFDBI	0.593127	0.58857	D	-1.94434961552967	0.00278	0.01191705	-2.04151613840292	0.00250	0.01101121	0.99961030143705	0.40981	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.41	-8.83	0.00696	-4.830000	0.00210	-20.000000	0.00162	-0.779000	0.03363	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1555:0.3814:0.2252:0.2379	2.290	0.03883	624	0.65661	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase 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	2453.98	131	chr4	99318127	.	T	A	2453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=2970;ExcessHet=0.0000;FS=4.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.651;SOR=0.833	GT:AD:DP:GQ:PL	0/1:96,95:191:99:2468,0,2229	20	0	1	0
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	0/1:55,35:90:99:.:.:259,0,782	4	0	16	1
chr4	105938318	105938318	A	T	exonic	NPNT	.	nonsynonymous SNV	NPNT:NM_001033047:exon5:c.A403T:p.M135L	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.024	B	0.025	B	0.000	N	0.959	D	0.195	N	2.16	T	-0.610	T	0.381	T	0.308	3.157	16.56	2.6	0.327	1.919	11.900	0.019	0.0180770075221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.24277	T	0.479	0.21011	T	0.008	0.16867	B	0.023	0.20508	B	0.000000	0.84330	N	0.144262	0.959056	0.38107	D	0.78	0.19475	N	-2.14	0.86415	D	-2.06	0.47175	N	0.393	0.50688	-0.6096	0.64420	T	0.381	0.73796	T	10	0.19107583	0.34779	T	0.018077	0.40021	T	0.165	0.42395	0.657	0.79482	0.673246092709	0.67048	0.3311572849612344	0.33028	0.0513843106545	0.05653	0.479988306761	0.36054	T	0.048059	0.45107	T	0.00905053	0.52895	T	-0.224776	0.52276	T	0.71270889043808	0.41333	D	0.809419	0.45992	T	0.3282018	0.55324	0.28014573	0.53988	0.3282018	0.55324	0.28014573	0.53987	-4.986	0.36720	T	.	.	0.079	0.26669	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.781806	0.36545	20.3	0.96485587991984123	0.29988	0.82974	0.42134	D	AEFBI	0.319311	0.42275	N	-0.43139598834648	0.24375	1.31571	-0.255617919699153	0.29577	1.658253	0.996836027561439	0.35047	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.22	2.6	0.30173	2.550000	0.45472	4.552000	0.43807	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.7232:0.2768:0.0:0.0	11.900	0.51959	898	0.25240	.;EGF-like domain;.;.;.;.;.;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1528.98	34	chr4	105938318	.	A	T	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=815;ExcessHet=0.0000;FS=4.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-6.920e-01;SOR=1.050	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1543,0,1796	20	0	1	0
chr4	109749528	109749528	G	A	exonic	CFI	.	stopgain	CFI:NM_001375283:exon7:c.C958T:p.R320X	Complement factor I deficiency, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1309746	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.294	22.5	1.72	-0.005	1.490	15.293	.	.	.	.	2.472e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs762761680	1.711e-05	1.71e-05	4.086e-06	3.026e-05	9.277e-05	1.174e-05	9.93e-06	4.579e-05	3.273e-05	0	0	0	5.038e-05	0	0	1.35e-05	0	9.277e-05	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.924	0.92901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460917	0.92965	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.;.	.;.;High;.;.	7.131361	0.96178	35	0.99366729949989818	0.61240	0.86924	0.46316	D	AEFBI	0.307090	0.41406	N	0.185182148233765	0.50487	3.238278	-0.0951576283744062	0.35591	2.060857	0.00402280271521477	0.10385	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.59	1.72	0.23498	1.535000	0.35667	3.447000	0.38420	0.595000	0.32841	0.998000	0.41325	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.3746:0.6254	15.293	0.73588	839	0.37672	.;Serine proteases, trypsin domain;Serine proteases, trypsin domain;.;Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1399.98	52	chr4	109749528	.	G	A	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=820;ExcessHet=0.0000;FS=3.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.700e-02;SOR=0.750	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1414,0,1366	20	0	1	0
chr4	124671643	124671643	C	T	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.G1097A:p.G366E	.	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	1.000	D	2.545	M	1.67	T	-0.633	T	0.215	T	0.985	3.628	18.45	4.98	2.590	7.164	18.448	0.636	0.158767906107	.	0.000199681	0.0004	0	8.685e-05	0	0	2.998e-05	0	0.0029	0.0003363	52	154602	rs200427768	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	0	0.0003	7.655e-05	0	0	0.0017	4.947e-05	0.0003	0.0036	0.0002	0.0002	0.0002	0.0001	0.0029	0.0001	8.72e-05	0.0018	0.0014	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0029	0.067	0.40068	T	0.003	0.76473	D	0.999	0.77913	D	0.96	0.70309	D	0.000004	0.62929	D	0.060049	1	0.81001	D	3.115	0.87836	M	1.67	0.27331	T	-4.57	0.78721	D	0.942	0.95256	-0.6334	0.63426	T	0.215	0.57679	T	10	0.13570702	0.25823	T	0.158768	0.83910	D	0.636	0.86078	.	.	0.773968156545	0.77189	0.7598854751198307	0.75936	0.788452715211	0.65643	0.889455974102	0.95193	D	0.200385	0.55795	T	-0.0749454	0.40534	T	0.117464	0.78066	D	0.237247473583348	0.22292	T	0.935306	0.75759	D	0.4090051	0.61350	0.53907555	0.73363	0.4090051	0.61351	0.53907555	0.73363	-7.949	0.61125	D	.	.	0.714	0.73550	P	.;.	.;.	4.603536	0.72932	25.9	0.99753849789489613	0.84460	0.98707	0.85832	D	AEFBI	0.871796	0.79336	D	0.792809154617797	0.85654	8.640904	0.737730294685214	0.85237	8.521269	0.999999999972484	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.98	4.98	0.65679	7.232000	0.77582	7.460000	0.59046	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.0:1.0:0.0:0.0	18.448	0.90638	933	0.16026	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6667.11	34	chr4	124671643	.	C	T	6667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.39;DP=1241;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.454;SOR=0.724	GT:AD:DP:GQ:PL	0/1:139,91:230:99:2566,0,3953	19	0	2	0
chr4	124671884	124671884	G	T	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.C856A:p.Q286K	.	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.037	B	0.023	B	0.000	D	1.000	D	1.24	L	-0.16	T	-0.921	T	0.182	T	0.489	1.124	9.581	5.39	2.809	7.238	15.718	0.136	0.00695152934178	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755206068	6.157e-06	6.156e-06	5.446e-06	6.876e-06	0.0002	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	0	0	0.0002	0	3.312e-05	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.02652	T	0.831	0.03706	T	0.037	0.20876	B	0.023	0.19966	B	0.000043	0.53742	D	0.126866	0.999945	0.51968	D	1.61	0.41143	L	-0.19	0.65931	T	-0.43	0.14390	N	0.342	0.38335	-0.9215	0.45348	T	0.182	0.53041	T	10	0.22738245	0.39616	T	0.006952	0.18402	T	0.136	0.36778	0.508	0.60386	0.597428956802	0.59422	0.6609207071271961	0.66029	0.317064055996	0.33956	0.723753333092	0.70595	T	0.02675	0.19729	T	-0.0642555	0.42239	T	-0.233221	0.51459	T	0.502197504043579	0.32710	D	0.89791	0.64303	D	0.09215165	0.21612	0.084877744	0.19559	0.09215165	0.21612	0.084877744	0.19559	-3.607	0.17958	T	.	.	0.117	0.23848	B	.;.	.;.	2.588667	0.33574	19.38	0.92808585665269028	0.22333	0.98824	0.87336	D	AEFBI	0.880662	0.80747	D	0.0976461744779218	0.46353	2.87694	0.291034202552886	0.55013	3.665067	0.999999729386279	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	7.343000	0.78559	8.606000	0.77748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.397000	0.26714	0.0:0.0:0.8632:0.1368	15.718	0.77447	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	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	3027.98	34	chr4	124671884	.	G	T	3027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=988;ExcessHet=0.0000;FS=2.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=0.554;SOR=0.622	GT:AD:DP:GQ:PL	0/1:115,108:223:99:3042,0,3173	20	0	1	0
chr4	128272421	128272421	A	G	exonic	PGRMC2	.	nonsynonymous SNV	PGRMC2:NM_006320:exon2:c.T515C:p.L172P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.08	H	-1.24	T	0.818	D	0.758	D	0.948	4.331	22.8	4.96	2.083	8.420	14.791	0.938	0.389992908171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.95e-07	3.42e-06	1.383e-06	0	9.076e-07	0	0	.	.	0	0	0	0	0	0	9.076e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.275	0.98156	H	-1.24	0.78967	T	-6.13	0.90100	D	0.975	0.98563	0.818	0.94630	D	0.758	0.91753	D	10	0.92150235	0.91503	D	0.389993	0.93166	D	0.938	0.98636	0.716	0.85141	0.979537770849	0.97931	0.9816803928534611	0.98160	2.22499519009	0.95887	0.858329415321	0.90864	D	0.73604	0.92650	D	0.451241	0.92536	D	0.410	0.92443	D	0.999816119670868	0.99146	D	0.964804	0.86967	D	0.946707	0.95930	0.9258574	0.96807	0.946707	0.95930	0.9258574	0.96808	-11.997	0.86276	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	4.391557	0.67780	25.1	0.99922659335074959	0.98852	0.99035	0.90275	D	AEFBI	0.963309	0.98517	D	0.973588556116703	0.94874	13.11236	0.863417675253139	0.93773	12.27152	0.999999999979601	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.96	4.96	0.65153	8.608000	0.90676	11.046000	0.85237	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.791	0.69471	845	0.36510	.;Cytochrome b5-like heme/steroid binding domain|Cytochrome b5-like heme/steroid 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	0.02381	143.98	34	chr4	128272421	.	A	G	143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.310e+00;DP=822;ExcessHet=0.0000;FS=72.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=2.64;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,19:127:99:0|1:128272421_A_G:158,0,3894:128272421	20	0	1	0
chr4	128272425	128272425	C	T	exonic	PGRMC2	.	nonsynonymous SNV	PGRMC2:NM_006320:exon2:c.G511A:p.D171N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.000	D	1.000	D	2.72	M	-1.16	T	0.437	D	0.670	D	0.266	5.295	34	4.96	2.578	7.039	18.394	0.687	0.144165496498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.865	0.83145	M	-1.16	0.78082	T	-4.49	0.78046	D	0.823	0.81857	0.437	0.89646	D	0.670	0.88564	D	10	0.80763197	0.80083	D	0.144165	0.82644	D	0.687	0.88585	0.568	0.69034	0.984673971449	0.98450	0.8766725506624653	0.87634	1.74234144677	0.90877	0.819935142994	0.85017	D	0.690469	0.90995	D	0.0640723	0.60121	T	-0.145741	0.59619	T	0.994382977485657	0.85642	D	0.963304	0.87416	D	0.7020724	0.78170	0.6033157	0.76947	0.7020724	0.78171	0.6033157	0.76948	-8.778	0.66485	D	.	.	0.953	0.87181	P	.;.;.;.	.;.;.;.	5.153366	0.86327	28.9	0.99926691055734718	0.99103	0.98511	0.83558	D	AEFBI	0.825998	0.74557	D	0.834872037855927	0.88231	9.50117	0.780529470324524	0.88408	9.570917	0.99999999999997	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.96	4.96	0.65153	7.286000	0.78031	7.559000	0.60438	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.394	0.90437	845	0.36510	.;Cytochrome b5-like heme/steroid binding domain|Cytochrome b5-like heme/steroid 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	0.02381	147.03	41	chr4	128272425	.	C	T	147.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.362e+00;DP=1148;ExcessHet=0.0000;FS=121.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=3.03;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,19:126:99:0|1:128272421_A_G:161,0,3867:128272421	20	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	729.72	57	chr4	134199956	.	C	T	729.72	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.043e+00;DP=1459;ExcessHet=4.7172;FS=120.348;InbreedingCoeff=-0.3900;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=-2.920e-01;SOR=8.830	GT:AD:DP:GQ:PL	0/1:47,20:67:90:90,0,813	7	0	9	5
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	140.02	148	chr4	134200395	.	C	G	140.02	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.021e+00;DP=2662;ExcessHet=0.3300;FS=188.251;InbreedingCoeff=-0.0749;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.83;SOR=10.021	GT:AD:DP:GQ:PL	0/1:171,45:235:11:11,0,3163	18	0	3	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	1/1:0,92,0:92:99:4078,277,0,4078,277,4078	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	1/1:0,92,0:92:99:4078,277,0,4078,277,4078	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	0/1:64,44:108:99:.:.:598,0,1989	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	0/1:64,36:102:99:.:.:580,0,1990	1	0	20	0
chr4	143186034	143186034	T	C	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon1:c.T584C:p.V195A	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.874	P	0.395	B	0.000	D	1.000	D	0.695	N	-0.18	T	-0.872	T	0.170	T	0.819	3.656	18.59	5.12	2.163	7.868	15.102	0.364	.	.	0.00658946	0.0029	0.0002	0	0	0	0	0.0011	0.0213	0.0026002	402	154602	rs61760235	0.0013	0.0013	0.0007	0.0019	0.0210	0.0013	0.0012	0.0202	0.0199	5.974e-05	2.236e-05	0	2.519e-05	0	0.0009	1.978e-05	0.0012	0.0210	0.0008	0.0008	0.0004	0.0012	0.0245	0.0007	0.0006	0.0209	0.0196	2.407e-05	0	6.535e-05	0	0.0004	0	0	0	0	0.0245	0.348	0.12386	T	0.298	0.20486	T	0.874	0.48047	P	0.395	0.44317	B	0.000001	0.62929	D	0.000000	1	0.81001	D	1.79	0.46772	L	-0.18	0.68181	T	-1.86	0.43524	N	0.575	0.62866	-0.8717	0.50401	T	0.170	0.51149	T	10	0.006545782	0.00148	T	.	.	.	0.364	0.68407	0.271	0.22052	0.782634291771	0.78062	0.6663086519030345	0.66568	0.363373720586	0.37968	0.711527645588	0.68814	T	0.063462	0.32181	T	-0.150534	0.28227	T	0.0272484	0.72100	D	0.0384476313676004	0.03411	T	0.666933	0.27600	T	0.5186442	0.68182	0.22596592	0.47558	0.5186442	0.68183	0.22596592	0.47557	-6.747	0.52745	T	.	.	0.683	0.72254	P	.;.	.;.	3.775237	0.54247	23.5	0.99698366845082997	0.80453	0.93657	0.58820	D	AEFGBCI	0.922362	0.89722	D	0.202199421100256	0.51306	3.312866	0.322579870917851	0.56869	3.851015	0.999999999999731	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.12	5.12	0.69459	7.835000	0.84986	7.854000	0.71106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.102	0.71960	804	0.43891	.;.	.	.	.	.	.	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	2401.98	33	chr4	143186034	.	T	C	2401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.950e-01;DP=929;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=-1.000e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/1:139,103:242:99:2416,0,3695	20	0	1	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	1/1:0,114,0:114:99:.:.:3759,342,0,3759,342,3759	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,64,0,0,0:64:99:2569,191,0,2569,192,2569,2569,192,2569,2569,2569,192,2569,2569,2569	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,64,0,0,0:64:99:2569,191,0,2569,192,2569,2569,192,2569,2569,2569,192,2569,2569,2569	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,64,0,0,0:64:99:2569,191,0,2569,192,2569,2569,192,2569,2569,2569,192,2569,2569,2569	0	10	4	0
chr4	146640129	146640129	C	A	exonic	POU4F2	.	nonsynonymous SNV	POU4F2:NM_004575:exon2:c.C551A:p.P184Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.924	P	0.313	B	0.001	D	1.000	D	1.04	L	-1.46	T	-0.613	T	0.301	T	0.642	2.213	13.36	4.79	1.390	4.755	11.458	0.442	0.103857832961	.	.	4.228e-05	0	0	0	0	7.615e-05	0	0	2.59e-05	4	154602	rs772758327	2.351e-05	2.463e-05	2.34e-05	2.362e-05	0.0002	1.692e-05	1.493e-05	1.629e-05	1.384e-05	0	0	0	0	0.0001	0.0002	2.342e-05	1.661e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.011	0.55530	D	0.263	0.22828	T	0.924	0.51285	P	0.313	0.41496	B	0.000957	0.40932	D	0.277132	0.999997	0.58761	D	1.32	0.33002	L	-1.46	0.80983	T	-0.62	0.18248	N	0.521	0.55106	-0.6130	0.64279	T	0.301	0.67251	T	10	0.37631056	0.53858	T	0.103858	0.77812	D	0.442	0.74518	0.293	0.25560	0.950249938627	0.94972	0.4556529586943605	0.45483	1.33609069953	0.83747	0.641975164413	0.58846	T	0.185303	0.53823	T	0.0258643	0.55172	T	-0.0619224	0.66199	T	0.370436012744904	0.27814	T	0.379762	0.09155	T	0.11671908	0.27527	0.16847357	0.38809	0.11671908	0.27527	0.16847357	0.38809	-2.205	0.04064	T	.	.	0.132	0.28348	B	.	.	3.494294	0.48858	22.7	0.97849149568746363	0.36385	0.98199	0.80466	D	AEFDBCI	0.667726	0.63575	D	0.136507165899062	0.48172	3.033041	0.219700214270297	0.50940	3.281116	0.999937274709856	0.46732	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.63	4.79	0.60909	4.829000	0.62427	7.595000	0.61372	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.8515:0.0:0.1485	11.458	0.49439	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	33	chr4	146640129	.	C	A	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=805;ExcessHet=0.0000;FS=1.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=0.320;SOR=0.833	GT:AD:DP:GQ:PL	0/1:55,66:121:99:1978,0,1344	20	0	1	0
chr4	151226083	151226083	C	T	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001378121:exon2:c.G116A:p.R39H	.	.	1197	315	6	4	0	14	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485224	.	.	.	.	.	.	.	.	0.0024321	376	154602	rs371652018	0.0045	0.0035	0.0041	0.0050	0.2094	0.0044	0.0044	0.2041	0.2019	0.0007	0.0002	0.0007	0.0003	0	0.0089	0.0003	0.0115	0.2094	0.0074	0.0074	0.0039	0.0110	0.2154	0.0070	0.0068	0.2045	0.2001	0.0009	0	0.0002	0.0003	0.0008	9.43e-05	0.0034	0.0004	0.0028	0.2154	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1.60554e-35	0.81001	P	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.0015856624	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44397	B	.	.	3.147079	0.42591	21.6	0.94374952466773865	0.24744	0.84785	0.43874	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999959241	0.74766	0.262962	0.04601	0	0.063388	0.01293	0	0.292756	0.05521	0	0.159066	0.04077	0	0.98146	0.87219	5.92	5.92	0.95557	2.389000	0.44060	2.202000	0.31296	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.094	0.89410	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5138.44	37	chr4	151226083	.	C	T	5138.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.368;DP=1017;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.150e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:57,36:93:99:791,0,1485	16	0	5	0
chr4	152770376	152770376	C	T	exonic	TIGD4	.	nonsynonymous SNV	TIGD4:NM_145720:exon2:c.G629A:p.C210Y,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.002	B	0.005	N	0.732	D	0.895	L	1.01	T	-1.004	T	0.072	T	0.193	1.326	10.35	2.91	0.815	1.291	9.793	0.074	0.00454715539605	0.0007	0.000599042	0.0010	0.0002	0.0004	0	0	0.0007	0.0033	0.0042	0.0009056	140	154602	rs139871778	0.0009	0.0009	0.0006	0.0011	0.0055	0.0008	0.0008	0.0051	0.0049	0.0003	0.0003	0	0	0	0.0050	0.0006	0.0008	0.0055	0.0005	0.0005	0.0005	0.0006	0.0035	0.0004	0.0004	0.0022	0.0018	7.213e-05	0	0.0003	0	0	0	0.0034	0.0008	0.0009	0.0035	0.052	0.39097	T	0.7	0.05727	T	0.0	0.02946	B	0.002	0.06944	B	0.004761	0.33426	N	0.140441	0.732273	0.33732	D	1.15	0.29295	L	1.01	0.41058	T	-1.29	0.32387	N	0.122	0.11340	-1.0045	0.28607	T	0.072	0.29387	T	10	0.0074849427	0.00170	T	0.004547	0.11220	T	0.074	0.21613	.	.	0.17258766438	0.16869	0.521447656311776	0.52067	0.0239299429718	0.02427	0.58555328846	0.50868	T	0.013863	0.11911	T	-0.529666	0.00386	T	-0.532927	0.18995	T	0.0165530710946136	0.00417	T	0.668933	0.27772	T	0.22484085	0.45133	0.27387723	0.53311	0.22484085	0.45133	0.27387723	0.53310	-4.999	0.36829	T	.	.	0.244	0.47816	B	.	.	3.009436	0.40238	21.1	0.95841116343085175	0.27965	0.56844	0.30222	D	AEFBI	0.109532	0.21752	N	-0.271591532776732	0.30250	1.684948	-0.106650180999005	0.35120	2.028177	0.999944710502599	0.47345	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	5.7	2.91	0.32903	1.622000	0.36608	2.138000	0.30825	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.7699:0.0:0.2301	9.793	0.39887	810	0.42761	.	.	.	.	.	.	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	4649.11	41	chr4	152770376	.	C	T	4649.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.448e+00;DP=1107;ExcessHet=0.1072;FS=3.130;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.394;SOR=0.882	GT:AD:DP:GQ:PL	0/1:82,95:177:99:2569,0,2281	19	0	2	0
chr4	155352626	155352631	TTTATC	-	exonic	MAP9	.	nonframeshift deletion	MAP9:NM_001039580:exon13:c.1786_1791del:p.D596_K597del,	.	.	593	926	3	0	0	3	0.00161725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0097	0.000998403	0.0050	0.0012	0.0018	0	0.0009	0.0079	0.0034	0.0027	0.0010758	28	26028	rs574972280	0.0074	0.0077	0.0074	0.0073	0.0089	0.0072	0.0072	0.0087	0.0086	0.0011	0.0026	0.0001	0	0.0018	0.0005	0.0089	0.0078	0.0020	0.0045	0.0045	0.0052	0.0037	0.0082	0.0042	0.0041	0.0076	0.0074	0.0015	0	0.0027	0	0	0.0011	0	0.0082	0.0033	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	990.94	37	chr4	155352625	.	GTTTATC	G	990.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=810;ExcessHet=0.0000;FS=0.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-1.968e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/1:38,27:65:99:1005,0,1473	20	0	1	0
chr4	159356096	159356096	C	T	exonic	RAPGEF2	.	nonsynonymous SNV	RAPGEF2:NM_014247:exon23:c.C4412T:p.P1471L	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.001	N	1.000	D	0.295	N	1.25	T	-1.095	T	0.051	T	0.287	-1.284	0.041	4.39	1.200	3.264	13.574	0.076	0.0234134488884	.	.	1.664e-05	0	0	0	0	3.01e-05	0	0	1.29e-05	2	154602	rs762752578	2.941e-05	2.941e-05	2.859e-05	3.025e-05	0.0002	2.216e-05	1.97e-05	2.711e-05	2.387e-05	0	2.236e-05	0	0	0	0.0002	3.597e-05	0	1.159e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.939e-05	0	0	1.0	0.00964	T	0.278	0.21812	T	0.0	0.02946	B	0.001	0.04355	B	0.000666	0.42516	N	0.206645	0.999988	0.54805	D	0.715	0.18665	N	1.25	0.36512	T	-0.62	0.18248	N	0.304	0.34336	-1.0952	0.04723	T	0.051	0.21883	T	10	0.07304591	0.10985	T	0.023413	0.46369	T	0.076	0.22200	0.115	0.02372	0.193917141947	0.19028	0.3464820363878654	0.34562	0.201043316276	0.22505	0.472830832005	0.35069	T	0.085817	0.37587	T	-0.248187	0.14323	T	-0.511414	0.21170	T	0.206459298729897	0.20767	T	0.878612	0.62362	D	0.03248665	0.03285	0.04009738	0.04256	0.03248665	0.03284	0.04009738	0.04256	-3.557	0.17239	T	.	.	0.165	0.36673	B	.;.;.	.;.;.	3.056357	0.41027	21.3	0.14846467403215174	0.00342	0.95889	0.66590	D	AEFBI	0.307210	0.41415	N	-0.648442521165067	0.17506	0.9013942	-0.542066259230344	0.21016	1.134973	0.999999401593746	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	4.39	0.52211	2.571000	0.45654	5.823000	0.50099	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.014000	0.10232	0.0:0.9251:0.0:0.0749	13.574	0.61328	862	0.33134	.;.;.	.	.	.	.	.	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	1673.98	33	chr4	159356096	.	C	T	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=0.234;SOR=0.727	GT:AD:DP:GQ:PL	0/1:35,64:99:99:1688,0,738	20	0	1	0
chr4	163128904	163128904	T	G	exonic	NAF1	.	nonsynonymous SNV	NAF1:NM_138386:exon8:c.A1478C:p.Y493S,	.	.	464	1055	3	0	0	3	0.00141978	.	.	1328047	not_specified|NAF1-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.991	D	0.766	P	0.020	N	1.000	D	0.975	L	1.0	T	-0.816	T	0.090	T	0.799	3.294	17.07	4.04	2.054	1.936	9.691	0.153	.	0.0007	0.00179712	0.0015	0.0001	0.0016	0	0	0.0020	0	0.0010	0.0011837	183	154602	rs143001503	0.0018	0.0018	0.0018	0.0018	0.0025	0.0018	0.0017	0.0020	0.0020	0.0004	0.0020	0.0008	0	0.0004	0.0025	0.0021	0.0014	0.0013	0.0016	0.0015	0.0015	0.0016	0.0051	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0051	0.0012	0	0.0002	0	0.0020	0.0023	0.0012	0.0	0.91255	D	0.124	0.35455	T	0.991	0.64070	D	0.766	0.56676	P	0.019652	0.27210	N	0.310366	0.644787	0.81001	D	2.3	0.65703	M	1.0	0.41392	T	-0.83	0.22727	N	0.611	0.62781	-0.8159	0.54189	T	0.090	0.34683	T	10	0.010709286	0.00237	T	.	.	.	0.153	0.40148	.	.	0.81742776106	0.81570	0.47445367070090955	0.47364	0.536272819218	0.50962	0.65680706501	0.60953	T	0.036118	0.23981	T	-0.209505	0.19447	T	-0.0795738	0.64935	T	0.0463365780933892	0.04844	T	0.485551	0.14815	T	0.22657369	0.45341	0.24215792	0.49630	0.22657369	0.45341	0.24215792	0.49628	-2.843	0.08586	T	.	.	0.164	0.36275	B	.	.	4.388635	0.67704	25.1	0.98948520044590937	0.49093	0.76833	0.37715	D	AEFBI	0.139077	0.26056	N	0.337784106014441	0.58097	3.980187	0.333176705790393	0.57499	3.915922	0.00863548147809964	0.11712	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.04	4.04	0.46262	2.019000	0.40620	3.662000	0.39410	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	9.691	0.39293	971	0.05719	.	.	.	.	.	.	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	1317.98	34	chr4	163128904	.	T	G	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=809;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=1.50;SOR=0.565	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1332,0,926	20	0	1	0
chr4	163473665	163473665	G	A	exonic	TKTL2	.	nonsynonymous SNV	TKTL2:NM_032136:exon1:c.C70T:p.R24W,	.	.	.	.	.	.	.	.	.	.	.	3346088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.25	H	0.38	T	0.102	D	0.467	T	0.664	3.096	16.34	3.37	2.353	1.626	9.822	0.509	0.0701822757132	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs548015097	1.642e-05	1.642e-05	1.361e-05	1.925e-05	0.0002	1.111e-05	9.33e-06	9.928e-05	7.224e-05	0	2.236e-05	0	0.0002	0	0	3.597e-06	0.0002	0	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.809e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	U	0.000000	0.999992	0.58761	D	4.23	0.97958	H	0.38	0.57575	T	-6.5	0.91609	D	0.871	0.86833	0.102	0.84215	D	0.467	0.79422	T	10	0.88778913	0.88111	D	0.070182	0.70933	D	0.509	0.78910	0.692	0.82938	0.853839970193	0.85243	0.8624926679569759	0.86213	0.571060429895	0.53246	0.466013371944	0.34134	T	0.465227	0.80046	T	0.0992084	0.64207	D	-0.0952704	0.63762	T	0.99931001663208	0.96929	D	0.995	0.98241	D	0.69116503	0.77574	0.5135843	0.71893	0.69116503	0.77576	0.5135843	0.71894	-9.815	0.72796	D	.	.	0.217	0.44682	B	.	.	4.411107	0.68239	25.2	0.99905669574810263	0.97651	0.76575	0.37566	D	AEFDBCI	0.354506	0.44656	N	0.735387586306904	0.81951	7.644	0.571636829832932	0.72914	5.885657	0.997583903122956	0.35786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.22	3.37	0.37692	1.352000	0.33637	0.968000	0.23038	0.618000	0.50648	1.000000	0.71638	0.011000	0.20116	0.163000	0.20749	0.1051:0.0:0.8949:0.0	9.822	0.40056	987	0.02648	Transketolase, 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	1392.98	35	chr4	163473665	.	G	A	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e-01;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-6.760e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1407,0,1598	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|1:83,16:99:99:0|1:176711629_G_C:119,0,3111:176711629	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|1:83,16:99:99:0|1:176711629_G_C:119,0,3111:176711629	6	0	11	4
chr4	177335804	177335804	A	T	exonic	NEIL3	.	nonsynonymous SNV	NEIL3:NM_018248:exon3:c.A395T:p.D132V,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.935	D	0.000	D	1.000	D	2.125	M	1.69	T	-0.869	T	0.150	T	0.983	3.290	17.05	5.14	2.155	8.191	14.297	0.644	0.037109093594	7.7e-05	.	0.0006	0.0001	0.0007	0	0	0.0008	0.0023	0.0003	0.0005304	82	154602	rs200055050	0.0005	0.0005	0.0005	0.0005	0.0166	0.0004	0.0004	0.0137	0.0127	0.0002	0.0009	0.0028	0	0	0.0166	0.0004	0.0009	0.0003	0.0003	0.0003	0.0005	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	9.632e-05	0	0.0003	0.0032	0	0	0.0306	0.0003	0.0009	0	0.008	0.58626	D	0.008	0.67890	D	0.996	0.68779	D	0.935	0.67021	D	0.000001	0.62929	D	0.097167	1	0.81001	D	2.745	0.80253	M	1.69	0.27032	T	-3.39	0.66896	D	0.751	0.75009	-0.8685	0.50642	T	0.150	0.47752	T	10	0.16765869	0.31273	T	0.037109	0.57411	D	0.644	0.86485	.	.	0.682620645307	0.67991	0.8046698844800249	0.80420	0.660132741455	0.58851	0.486539304256	0.36960	T	0.20589	0.56508	T	-0.00477988	0.50993	T	0.128808	0.78814	D	0.0891745110324831	0.11118	T	0.868313	0.57032	D	0.48030865	0.65919	0.30659926	0.56684	0.48030865	0.65920	0.30659926	0.56683	-12.045	0.85069	D	.	.	0.500	0.64572	A	.	.	4.718524	0.75881	26.4	0.99165876776245965	0.54241	0.99251	0.93458	D	AEFBI	0.858044	0.77550	D	0.744800952342921	0.82565	7.794299	0.719934546279451	0.83893	8.142577	0.9999999565011	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.14	5.14	0.70008	8.168000	0.89620	7.859000	0.71346	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.297	0.65872	970	0.06235	Formamidopyrimidine-DNA glycosylase, 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	1427.98	38	chr4	177335804	.	A	T	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.20;ReadPosRankSum=0.567;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,36:59:99:0|1:177335804_A_T:1442,0,837:177335804	20	0	1	0
chr4	177335805	177335805	C	G	exonic	NEIL3	.	nonsynonymous SNV	NEIL3:NM_018248:exon3:c.C396G:p.D132E,	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.689	P	0.155	B	0.000	D	0.995	D	1.435	L	1.62	T	-1.083	T	0.045	T	0.838	0.277	5.500	3.33	0.672	0.034	4.353	0.191	0.00505511049699	7.7e-05	.	0.0006	0.0001	0.0007	0	0	0.0008	0.0023	0.0003	0.0005304	82	154602	rs201212443	0.0005	0.0005	0.0005	0.0005	0.0164	0.0004	0.0004	0.0135	0.0125	0.0002	0.0009	0.0028	0	0	0.0164	0.0004	0.0009	0.0003	0.0003	0.0003	0.0005	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	9.632e-05	0	0.0003	0.0032	0	0	0.0306	0.0003	0.0009	0	0.378	0.11262	T	0.466	0.12386	T	0.689	0.41609	P	0.155	0.34417	B	0.000001	0.62929	D	0.097167	0.995499	0.42717	D	2.05	0.56469	M	1.62	0.28189	T	-0.67	0.19297	N	0.147	0.14905	-1.0831	0.06758	T	0.045	0.19275	T	10	0.012093812	0.00261	T	0.005055	0.12784	T	0.191	0.46948	0.475	0.55182	0.405560941015	0.40167	0.6035131891944862	0.60282	0.143388446236	0.16189	0.515238523483	0.40957	T	0.098497	0.40237	T	-0.19237	0.21912	T	-0.140652	0.60062	T	0.0232583975305247	0.01055	T	0.59684	0.22194	T	0.099990234	0.23604	0.06502534	0.13119	0.099990234	0.23604	0.06502534	0.13119	-5.844	0.44956	T	.	.	0.286	0.51874	B	.	.	1.831043	0.23262	15.95	0.92639290159364795	0.22113	0.81945	0.41252	D	AEFBI	0.156562	0.28194	N	-0.123365963126992	0.36375	2.101837	-0.0578855628404897	0.37151	2.171	0.90159403409518	0.26105	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.14	3.33	0.37245	0.047000	0.13941	1.015000	0.23361	0.599000	0.40250	0.952000	0.33172	1.000000	0.68203	0.988000	0.63387	0.0:0.42:0.2896:0.2904	4.353	0.10598	970	0.06235	Formamidopyrimidine-DNA glycosylase, 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	1427.98	38	chr4	177335805	.	C	G	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.344e+00;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.20;ReadPosRankSum=0.297;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,36:59:99:0|1:177335804_A_T:1442,0,837:177335804	20	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:107,32:139:99:477,0,2862	12	0	9	0
chr5	16818109	16818109	G	A	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon3:c.C179T:p.T60M,	.	.	435	1085	2	0	0	2	0.00092081	.	.	721370	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.916	P	0.346	B	.	.	1.000	N	2.495	M	-0.61	T	0.341	D	0.775	D	0.2	1.084	9.425	-9.35	-2.296	0.100	16.566	0.349	0.213938589877	0.0020	.	0.0018	0.0006	0	0.0001	0.0006	0.0030	0	0	0.0017335	268	154602	rs201115810	0.0027	0.0027	0.0028	0.0025	0.0033	0.0026	0.0026	0.0032	0.0032	0.0003	0.0004	3.831e-05	0	0.0006	0.0017	0.0033	0.0016	8.145e-05	0.0016	0.0016	0.0019	0.0014	0.0032	0.0015	0.0014	0.0028	0.0027	0.0003	0.0088	0.0004	0	0	0.0004	0	0.0032	0.0014	0	0.077	0.40319	T	0.011	0.66756	D	0.916	0.50672	P	0.346	0.42645	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	-0.61	0.95179	T	-2.34	0.63669	N	0.154	0.16864	0.341	0.88199	D	0.775	0.92353	D	9	0.0059529245	0.00133	T	0.213939	0.87432	D	0.349	0.67049	.	.	0.445711490874	0.44190	0.16138815112101867	0.16059	0.187189779373	0.21033	0.20991641283	0.00808	T	0.083917	0.74897	T	-0.318262	0.07040	T	-0.232674	0.51511	T	0.0244160400845385	0.01197	T	0.189581	0.03081	T	0.029104732	0.02352	0.06978827	0.14747	0.029104732	0.02352	0.06978827	0.14747	-5.406	0.40977	T	.	.	0.072	0.12891	B	.;.;.;.;.	.;.;.;.;.	-0.707789	0.01303	0.070	0.87801014169234648	0.17492	0.05842	0.11785	N	AEFGBI	0.081642	0.16523	N	-1.23228982416853	0.04539	0.2050365	-1.4611115625026	0.02671	0.1232865	0.999999994227375	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.08	-9.35	0.00536	0.131000	0.15696	-1.412000	0.05500	-1.750000	0.00690	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0928:0.1867:0.7205:0.0	16.566	0.84437	938	0.14419	Myosin head, motor domain;Myosin head, motor domain;Myosin head, motor domain;Myosin head, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	36	chr5	16818109	.	G	A	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=762;ExcessHet=0.0000;FS=4.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-9.900e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1055,0,826	20	0	1	0
chr5	32786307	32786307	C	T	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_001364460:exon7:c.C817T:p.R273W	.	.	426	1093	3	0	0	3	0.00137049	.	.	1570732	Inborn_genetic_diseases|NPR3-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	0.805	L	0.75	T	-0.636	T	0.205	T	0.922	3.773	19.16	4.2	1.583	1.803	17.039	0.355	0.0615222187363	0.0006	0.000399361	0.0011	0	0.0010	0.0002	0.0029	0.0013	0.0032	0.0009	0.0008991	139	154602	rs142228984	0.0012	0.0013	0.0012	0.0013	0.0014	0.0012	0.0012	0.0013	0.0012	0.0001	0.0004	0	2.543e-05	0.0021	0.0003	0.0013	0.0013	0.0014	0.0009	0.0009	0.0010	0.0008	0.0023	0.0008	0.0007	0.0013	0.0011	0.0001	0	0.0002	0	0	0.0018	0	0.0014	0.0005	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999961	0.52935	D	2.045	0.56016	M	0.75	0.50192	T	-1.91	0.44471	N	0.699	0.83371	-0.6361	0.63312	T	0.205	0.56279	T	10	0.051540524	0.05051	T	0.061522	0.68359	D	0.355	0.67600	.	.	0.904445790692	0.90349	0.7448816576513672	0.74434	.	.	0.79996573925	0.81957	T	0.098695	0.65041	T	-0.0835324	0.39138	T	0.101068	0.76978	D	0.0681145236514431	0.08384	T	0.977602	0.92086	D	0.40438634	0.61035	0.32918283	0.58800	0.40438634	0.61035	0.32918283	0.58799	-6.689	0.68382	T	.	.	0.343	0.64159	A	.;.;.;.	.;.;.;.	4.721183	0.75951	26.4	0.99922296390473664	0.98852	0.72224	0.35359	D	AEFGBHCIJ	0.743746	0.68695	D	0.450440138550749	0.64226	4.672654	0.469376118130757	0.65969	4.891647	0.999999016305163	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	4.2	0.48814	2.331000	0.43552	1.391000	0.26116	0.599000	0.40250	1.000000	0.71638	0.974000	0.29927	0.997000	0.79791	0.2425:0.7575:0.0:0.0	17.039	0.86359	610	0.67008	.;.;.;.	.	.	.	.	.	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	2346.11	37	chr5	32786307	.	C	T	2346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.40;DP=949;ExcessHet=0.1072;FS=0.547;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.321;SOR=0.647	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1075,0,857	19	0	2	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:118,56:184:99:269,0,2101	4	0	8	9
chr5	38407879	38407879	G	T	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon4:c.G520T:p.A174S	.	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.004	B	0.006	B	0.000	N	1.000	D	-1.01	N	-1.18	T	-1.023	T	0.107	T	0.09	0.982	9.011	2.62	0.619	3.060	2.748	0.180	0.0162415949113	0.0008	0.000399361	0.0004	0	0.0004	0.0001	0	0.0006	0	0.0003	0.0004463	69	154602	rs144280109	0.0004	0.0004	0.0003	0.0004	0.0108	0.0004	0.0004	0.0086	0.0078	0.0004	0.0003	0.0023	0	0	0.0108	0.0003	0.0009	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0002	4.816e-05	0	0.0006	0.0032	0	0	0.0136	0.0004	0.0009	0.0002	0.634	0.05091	T	0.654	0.06713	T	0.002	0.12183	B	0.003	0.12133	B	0.000052	0.53742	N	0.162320	0.503064	0.81001	D	-0.79	0.01637	N	-1.18	0.78314	T	0.77	0.01949	N	0.259	0.31027	-1.0231	0.22704	T	0.107	0.38979	T	10	0.010558546	0.00234	T	0.016242	0.37399	T	0.180	0.45073	.	.	0.3349148499	0.33108	0.2054628426780773	0.20463	0.083793042556	0.09449	0.48125243187	0.36230	T	0.086423	0.37720	T	-0.391856	0.02617	T	-0.457919	0.26827	T	0.0431086848799144	0.04258	T	0.80472	0.45238	T	0.056799863	0.11223	0.07393864	0.16121	0.056799863	0.11223	0.07393864	0.16121	-7.767	0.63102	D	.	.	0.088	0.11797	B	.;.;.	.;.;.	1.851629	0.23525	16.05	0.82680945385347615	0.14319	0.86212	0.45450	D	AEFBI	0.430607	0.49324	N	-0.610719799446432	0.18622	0.9682474	-0.355318616066524	0.26346	1.454564	0.981228701734756	0.30234	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.53	2.62	0.30337	2.879000	0.48220	3.275000	0.37188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2061:0.0:0.3535:0.4404	2.748	0.04947	845	0.36510	Laminin G domain|Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2080.98	34	chr5	38407879	.	G	T	2080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.105e+00;DP=872;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=1.01;SOR=0.860	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2095,0,2182	20	0	1	0
chr5	40716416	40716416	G	A	exonic	TTC33	.	nonsynonymous SNV	TTC33:NM_012382:exon5:c.C518T:p.T173M,	.	.	.	.	.	.	.	.	.	.	.	2199364	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.923	P	0.118	B	0.017	N	0.963	N	1.245	L	1.44	T	-1.100	T	0.050	T	0.155	1.971	12.55	2.86	0.267	1.639	15.159	0.033	0.00858945805288	7.7e-05	0.000199681	8.337e-05	0	0	0.0009	0	3.035e-05	0	0	7.12e-05	11	154602	rs139388593	2.668e-05	2.668e-05	2.723e-05	2.613e-05	0.0007	1.998e-05	1.754e-05	0.0005	0.0004	0	2.236e-05	0	0.0007	1.883e-05	0.0002	2.698e-06	8.279e-05	0	7.88e-05	9.187e-05	7.71e-05	8.058e-05	0.0017	4.494e-05	3.51e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	2.94e-05	0.0005	0	0.066	0.36113	T	0.064	0.44905	T	0.923	0.51194	P	0.118	0.32088	B	0.017235	0.27776	N	0.436514	0.963476	0.26023	N	1.445	0.36358	L	1.44	0.32722	T	-0.89	0.24026	N	0.158	0.16447	-1.1001	0.04079	T	0.050	0.21456	T	10	0.026197046	0.00792	T	0.008589	0.22705	T	0.033	0.08068	.	.	0.360961692134	0.35713	0.4446024196313478	0.44378	0.394364968837	0.40593	0.358500361443	0.19166	T	0.021691	0.16847	T	-0.501077	0.00564	T	-0.533072	0.18980	T	0.0995989183324289	0.12314	T	0.923008	0.71997	D	0.034714743	0.03949	0.049858134	0.07707	0.034714743	0.03949	0.049858134	0.07706	-4.044	0.24460	T	.	.	0.077	0.06295	B	.	.	3.105268	0.41865	21.4	0.95572497278462543	0.27267	0.54664	0.29671	D	AEFGBCI	0.172623	0.29967	N	-0.0751587922603628	0.38486	2.254709	-0.0585541123698132	0.37121	2.169358	0.969711619195753	0.29150	0.743674	0.98306	0	0.653731	0.59785	0	0.630245	0.45026	0	0.691587	0.68394	0	.	.	5.8	2.86	0.32427	1.700000	0.37434	6.154000	0.54239	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.904000	0.43992	0.0:0.0:0.3189:0.6811	15.159	0.72449	329	0.86514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1698.98	34	chr5	40716416	.	G	A	1698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=818;ExcessHet=0.0000;FS=2.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.64;SOR=0.938	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1713,0,1515	20	0	1	0
chr5	42699919	42699919	C	T	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon4:c.C469T:p.R157C	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	23676	not_specified|Laron-type_isolated_somatotropin_defect|Short_stature_due_to_growth_hormone_secretagogue_receptor_deficiency|Short_stature_due_to_partial_GHR_deficiency|Hypercholesterolemia,_familial,_1|not_provided|GHR-related_disorder	MedGen:CN169374|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633|MONDO:MONDO:0014403,MedGen:C4707848,OMIM:615925,Orphanet:314811|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.717	P	0.171	B	0.000	D	1.000	A	1.385	L	-3.4	D	0.170	D	0.547	D	0.726	2.910	15.70	3.19	0.403	1.257	9.312	0.609	0.115468224968	0.0056	0.00139776	0.0041	0.0012	0.0021	0	0.0023	0.0059	0.0077	0.0027	0.0041526	642	154602	rs121909362	0.0046	0.0047	0.0047	0.0046	0.0053	0.0045	0.0045	0.0052	0.0051	0.0011	0.0030	0.0018	2.527e-05	0.0034	0.0024	0.0053	0.0040	0.0030	0.0040	0.0040	0.0039	0.0041	0.0076	0.0038	0.0037	0.0065	0.0060	0.0010	0.0011	0.0076	0.0009	0	0.0023	0.0068	0.0060	0.0033	0.0027	0.0	0.91255	D	0.0	0.92824	D	0.717	0.42239	P	0.171	0.35348	B	0.000003	0.62929	D	0.105237	0.0568931	0.81001	A	1.04	0.26193	L	-3.4	0.94260	D	-0.79	0.21860	N	0.649	0.72567	0.170	0.85394	D	0.547	0.83388	D	9	0.085534275	0.14449	T	0.115468	0.79465	D	0.609	0.84666	.	.	0.980862896875	0.98065	0.6824506315988559	0.68184	0.0607989214679	0.06768	0.266834557056	0.05732	T	0.459716	0.79719	T	-0.0783641	0.39981	T	0.117132	0.78045	D	0.0470354036716266	0.04971	T	0.793521	0.43550	T	0.7133288	0.78791	0.26592335	0.52431	0.6499371	0.75362	0.36667204	0.61992	-9.204	0.69000	D	0.2636075541560013	0.35561	0.226	0.49865	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.471068	0.31848	18.87	0.99529260467720693	0.69777	0.82051	0.41339	D	AEFI	0.569677	0.57436	D	-0.0343289700656994	0.40305	2.391333	0.0119569775514906	0.40270	2.400541	0.00146348285875886	0.08559	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.91	3.19	0.35720	1.304000	0.33087	-0.175000	0.11188	-0.194000	0.09177	0.592000	0.27682	0.000000	0.08366	0.982000	0.59238	0.0:0.7495:0.1203:0.1302	9.312	0.37072	495	0.76383	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2068.98	33	chr5	42699919	.	C	T	2068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e-01;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=1.14;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,75:124:99:0|1:42699919_C_T:2083,0,1190:42699919	20	0	1	0
chr5	69386095	69386095	G	C	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon6:c.G731C:p.R244T	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.991	D	0.869	P	0.000	D	1.000	D	2.555	M	2.25	T	-0.560	T	0.244	T	0.804	4.197	21.8	4.8	1.518	8.597	14.792	0.344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.40573	D	0.058	0.48336	T	0.958	0.64070	D	0.793	0.61749	P	0.000000	0.84330	D	0.041288	1	0.81001	D	2.655	0.77738	M	2.25	0.45636	T	-3.86	0.74821	D	0.88	0.95139	-0.5601	0.66400	T	0.244	0.61272	T	10	0.887828	0.88116	D	0.091693	0.75753	D	0.344	0.66582	0.715	0.85051	0.618819884562	0.61573	0.7433956115513971	0.74285	0.388650570179	0.40129	0.556141376495	0.46723	T	0.188556	0.54250	T	0.135558	0.67900	D	-0.0430562	0.67495	D	0.989339768886566	0.79577	D	0.906109	0.66926	D	0.4582209	0.64560	0.3409298	0.59839	0.4582209	0.64560	0.3409298	0.59838	-13.172	0.90058	D	.	.	0.529	0.67894	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	6.426927	0.95193	34	0.9818322802681656	0.38967	0.99640	0.98249	D	AEFBI	0.923775	0.90078	D	0.739316462212112	0.82208	7.706102	0.711827815095699	0.83277	7.979677	0.823624580608715	0.24568	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.67	4.8	0.61157	8.760000	0.91349	11.623000	0.93636	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1452:0.8548:0.0	14.792	0.69476	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	950.98	33	chr5	69386095	.	G	C	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e+00;DP=771;ExcessHet=0.0000;FS=0.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=1.21;SOR=0.826	GT:AD:DP:GQ:PL	0/1:45,40:85:99:965,0,1203	20	0	1	0
chr5	73753050	73753050	A	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001080479:exon4:c.A323G:p.N108S	.	.	432	1076	14	0	0	14	0.00646353	.	.	795718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.044	B	0.009	B	.	.	1.000	N	0	N	3.27	T	-0.974	T	0.012	T	0.027	0.614	7.303	3.29	0.899	1.189	6.603	0.038	.	0.0030	0.00259585	0.0037	0.0010	0.0024	0	0.0116	0.0033	0.0067	0.0066	0.003053	472	154602	rs202122468	0.0034	0.0034	0.0034	0.0035	0.0059	0.0033	0.0033	0.0054	0.0053	0.0006	0.0027	0.0010	5.048e-05	0.0093	0.0026	0.0033	0.0032	0.0059	0.0030	0.0030	0.0026	0.0035	0.0044	0.0028	0.0027	0.0029	0.0028	0.0007	0	0.0024	0.0006	0.0002	0.0132	0.0068	0.0033	0.0028	0.0044	0.153	0.25355	T	0.356	0.17425	T	0.044	0.21686	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.27	0.06602	T	-0.23	0.10656	N	0.057	0.07811	-0.9739	0.36366	T	0.012	0.04747	T	9	0.0034273565	0.00060	T	.	.	.	0.038	0.09825	.	.	0.158396225186	0.15383	0.17245385209297553	0.17165	0.0583961131483	0.06474	0.27519595623	0.06831	T	0.004213	0.03621	T	-0.692941	0.00040	T	-0.766219	0.02894	T	0.00566671547338331	0.00062	T	0.758124	0.38180	T	0.0405561	0.05810	0.04987137	0.07710	0.0405561	0.05810	0.04987137	0.07710	-1.874	0.02739	T	.	.	0.065	0.03479	B	.;.;.;.;.	.;.;.;.;.	1.794752	0.22813	15.77	0.90784544201720663	0.20033	0.04976	0.10745	N	AEFGBI	0.043377	0.06850	N	-0.785594730364349	0.13685	0.6759337	-0.712317549567663	0.16655	0.8820444	0.984326989418703	0.30699	0.67177	0.52595	0	0.546412	0.12157	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.82	3.29	0.36801	1.239000	0.32322	2.835000	0.35045	0.756000	0.94297	0.020000	0.19661	0.396000	0.24688	0.209000	0.22154	0.6216:0.0:0.3784:0.0	6.603	0.21907	954	0.10045	.;.;.;.;.	.	.	.	.	.	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	5629.11	33	chr5	73753050	.	A	G	5629.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.680e-01;DP=1079;ExcessHet=0.1072;FS=1.097;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.796;SOR=0.609	GT:AD:DP:GQ:PL	0/1:96,105:201:99:2755,0,2578	19	0	2	0
chr5	74770719	74770719	A	G	exonic	NSA2	.	nonsynonymous SNV	NSA2:NM_001271665:exon4:c.A431G:p.K144R	.	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.503	P	0.34	B	0.000	D	1.000	D	3.375	M	1.68	T	-0.819	T	0.142	T	0.496	5.059	31	5.63	2.261	8.905	16.125	0.227	.	7.7e-05	0.0103834	0.0066	0.0002	0.0007	0	0	0	0.0022	0.0479	0.005692	880	154602	rs112629126	0.0028	0.0028	0.0015	0.0041	0.0446	0.0027	0.0027	0.0434	0.0430	8.968e-05	8.954e-05	0	2.521e-05	0	0.0012	1.619e-05	0.0030	0.0446	0.0017	0.0017	0.0007	0.0027	0.0503	0.0015	0.0015	0.0451	0.0431	0.0004	0	0	0	0	0	0	0	0	0.0503	0.097	0.30943	T	0.007	0.69154	D	0.503	0.37206	P	0.34	0.42389	B	0.000001	0.84330	D	0.127262	1	0.81001	D	2.535	0.73915	M	1.68	0.27184	T	-2.39	0.52612	N	0.691	0.69649	-0.8191	0.53990	T	0.142	0.46349	T	10	0.0069829226	0.00159	T	.	.	.	0.227	0.52620	.	.	0.377493895363	0.37364	0.3418175804496259	0.34094	0.0514255740683	0.05660	0.752924501896	0.74878	T	0.342673	0.71142	T	-0.389177	0.02723	T	-0.298222	0.44913	T	0.0660738710339191	0.08089	T	0.966703	0.87848	D	0.26409462	0.49475	0.30599636	0.56625	0.26409462	0.49475	0.30599636	0.56624	-6.81	0.52633	T	.	.	0.365	0.57511	A	.;.	.;.	4.398517	0.67945	25.2	0.99895373078427807	0.96819	0.99045	0.90421	D	AEFBI	0.965132	0.98739	D	0.610350713587985	0.73828	6.030422	0.65168110091614	0.78733	6.936584	0.999999999998074	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	8.890000	0.92121	9.326000	0.80089	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.125	0.81196	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	0.025	1556.33	34	chr5	74770719	.	A	G	1556.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.397;DP=778;ExcessHet=0.0000;FS=7.101;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.82;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-3.900e-01;SOR=1.218	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1570,0,1434	19	0	1	1
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	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	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:99,24:123:98:98,0,2202	11	0	10	0
chr5	79237494	79237494	A	G	exonic	JMY	.	nonsynonymous SNV	JMY:NM_152405:exon1:c.A844G:p.I282V,	.	.	417	1103	1	1	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.001	B	0.067	U	0.997	N	0.345	N	3.17	T	-0.959	T	0.012	T	0.043	0.493	6.674	-1.61	-0.223	1.604	11.441	0.039	0.00275930997374	.	.	0.0003	0	8.649e-05	0	0	0	0	0.0022	0.0002458	38	154602	rs754291512	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	6.708e-05	0	0	0	0.0021	5.666e-05	0.0001	0.0024	7.23e-05	7.218e-05	7.718e-05	6.721e-05	0.0008	3.973e-05	3.128e-05	0.0003	0.0002	0	0	0.0001	0	0	0	0.0034	5.885e-05	0	0.0008	0.48	0.08237	T	0.562	0.09052	T	0.0	0.02946	B	0.001	0.04355	B	0.067443	0.21740	U	0.450315	0.996503	0.22994	N	-1.67	0.00374	N	3.17	0.07599	T	-0.13	0.08971	N	0.015	0.00181	-0.9585	0.39461	T	0.012	0.04653	T	10	0.005007446	0.00108	T	0.002759	0.05723	T	0.039	0.10176	.	.	0.0934897674506	0.08844	0.05369305680692181	0.05311	.	.	0.423015803099	0.28251	T	0.007548	0.06949	T	-0.704698	0.00034	T	-0.790884	0.02141	T	0.0115356967724535	0.00174	T	0.59464	0.22023	T	0.027022906	0.01836	0.039731573	0.04134	0.027022906	0.01835	0.039731573	0.04134	-3.2	0.12480	T	.	.	0.074	0.05103	B	.	.	1.745102	0.22204	15.52	0.6792211350105215	0.08500	0.39791	0.26292	N	ALL	0.106806	0.21299	N	-0.859432440105369	0.11819	0.572471	-0.747666158716667	0.15780	0.8316019	0.999999999996611	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	5.12	-1.61	0.07951	1.611000	0.36490	2.083000	0.30505	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.4764:0.0:0.5236:0.0	11.441	0.49345	787	0.46738	JMY/WHAMM, middle 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	2072.98	34	chr5	79237494	.	A	G	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=899;ExcessHet=0.0000;FS=1.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.520;SOR=0.849	GT:AD:DP:GQ:PL	0/1:82,82:164:99:2087,0,1917	20	0	1	0
chr5	90720207	90720207	T	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon44:c.T9607A:p.S3203T,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	2	1519	1	0	0	1	0.000329056	.	.	174448	Usher_syndrome_type_2C|not_specified|not_provided	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.031	B	0.004	B	0.275	N	1.000	D	1.185	L	1.68	T	-1.097	T	0.030	T	0.162	2.379	13.91	6.08	2.333	3.868	16.644	0.067	.	0.0050	0.00698882	0.0020	0.0199	0.0007	0	0	0.0002	0.0014	0	0.00152	235	154602	rs116480183	0.0005	0.0005	0.0006	0.0004	0.0173	0.0005	0.0005	0.0161	0.0156	0.0173	0.0011	0	0	0	0.0005	5.271e-05	0.0010	0	0.0048	0.0048	0.0052	0.0045	0.0166	0.0045	0.0044	0.0156	0.0152	0.0166	0	0.0017	0	0	0	0.0034	0.0001	0.0038	0	0.378	0.11262	T	0.394	0.15305	T	0.031	0.20130	B	0.004	0.10090	B	0.275118	0.15052	N	0.697990	0.706001	0.33469	D	.	.	.	1.68	0.27184	T	-0.86	0.23372	N	0.217	0.24260	-1.0966	0.04528	T	0.030	0.12717	T	10	0.003653735	0.00067	T	.	.	.	0.067	0.19503	.	.	0.435915822735	0.43211	0.32436649867565337	0.32349	0.250280308182	0.27603	0.390184372663	0.23695	T	0.121706	0.44485	T	-0.532862	0.00369	T	-0.523259	0.19966	T	0.0235086113147259	0.01085	T	0.556944	0.19352	T	0.17565817	0.38437	0.11157815	0.26916	0.22010528	0.44557	0.14336318	0.34072	-4.332	0.28623	T	.	.	0.079	0.07365	B	.;.	.;.	2.304130	0.29484	18.14	0.9241644849677596	0.21832	0.98246	0.80894	D	AEFBI	0.359099	0.44955	N	-0.0435845044946148	0.39889	2.359772	0.17006282293739	0.48216	3.040457	0.998936275379266	0.38009	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	3.894000	0.55963	4.248000	0.42743	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.644	0.85012	606	0.67383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	712.98	35	chr5	90720207	.	T	A	712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.140e-01;DP=827;ExcessHet=0.0000;FS=3.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=-4.380e-01;SOR=1.584	GT:AD:DP:GQ:PL	0/1:20,23:43:99:727,0,553	20	0	1	0
chr5	95436867	95436867	-	C	exonic	FAM81B	.	frameshift insertion	FAM81B:NM_152548:exon7:c.854_855insC:p.Q285Hfs*21,	.	.	439	1068	14	1	0	16	0.00743494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0065	.	0.0048	0.0014	0.0016	0	0.0005	0.0063	0.0045	0.0073	0.0012294	32	26028	rs373017124	0.0059	0.0060	0.0060	0.0058	0.0075	0.0058	0.0058	0.0062	0.0062	0.0009	0.0020	0.0168	0	0.0010	0.0075	0.0063	0.0064	0.0066	0.0044	0.0044	0.0043	0.0045	0.0065	0.0041	0.0040	0.0060	0.0058	0.0011	0	0.0031	0.0248	0	0.0006	0	0.0065	0.0038	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1566.94	34	chr5	95436867	.	A	AC	1566.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.210e-01;DP=800;ExcessHet=0.0000;FS=2.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-1.130e-01;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,45:110:99:0|1:95436867_A_AC:1581,0,2505:95436867	20	0	1	0
chr5	95436872	95436872	G	A	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon7:c.G859A:p.D287N,	.	.	439	1068	14	1	0	16	0.00743494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.989	D	0.749	P	0.000	D	0.987	N	2.215	M	1.95	T	-1.003	T	0.097	T	0.056	4.333	22.8	5.47	2.569	2.129	12.256	0.137	0.00538752560431	.	.	0.0048	0.0016	0.0016	0	0.0005	0.0063	0.0045	0.0073	0.0044631	690	154602	rs201688877	0.0059	0.0060	0.0060	0.0058	0.0075	0.0058	0.0058	0.0062	0.0062	0.0010	0.0020	0.0168	5.04e-05	0.0010	0.0075	0.0063	0.0064	0.0066	0.0044	0.0044	0.0043	0.0045	0.0065	0.0041	0.0040	0.0060	0.0058	0.0012	0	0.0031	0.0248	0	0.0006	0	0.0065	0.0038	0.0060	0.083	0.33091	T	0.107	0.37730	T	.	.	.	.	.	.	0.000069	0.52346	D	0.122706	0.986949	0.24567	N	.	.	.	1.95	0.22474	T	-1.92	0.44657	N	0.219	0.24510	-1.0032	0.28992	T	0.097	0.36315	T	10	0.0063349307	0.00143	T	0.005388	0.13832	T	0.137	0.36984	.	.	0.278143212241	0.27437	0.21449996010531316	0.21365	0.109081632923	0.12296	0.457668781281	0.32991	T	.	.	.	-0.614857	0.00118	T	-0.651831	0.08826	T	0.0325736749937369	0.02400	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27463	B	.	.	2.568296	0.33279	19.29	0.9989743163314726	0.96971	0.83926	0.43016	D	AEFDI	0.299339	0.40842	N	0.596596665877726	0.72961	5.888983	0.59403733528744	0.74510	6.149495	0.508603302744433	0.21001	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	1.685000	0.37277	5.830000	0.50156	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0822:0.0:0.9178:0.0	12.256	0.53939	629	0.65079	.	.	.	.	.	.	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	1473.98	34	chr5	95436872	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=791;ExcessHet=0.0000;FS=1.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-7.000e-03;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,41:105:99:0|1:95436867_A_AC:1488,0,2496:95436867	20	0	1	0
chr5	97094954	97094954	G	A	exonic	LIX1	.	nonsynonymous SNV	LIX1:NM_153234:exon6:c.C643T:p.R215W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.231	B	0.001	D	0.780	N	0.345	N	0.85	T	-1.010	T	0.057	T	0.52	2.499	14.32	3.19	0.391	4.556	5.523	0.204	0.0256540391781	.	0.00119808	0.0007	9.718e-05	0	0.0001	0	1.499e-05	0.0011	0.0052	0.0006533	101	154602	rs373055209	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0033	0.0002	2.236e-05	0	0	0	0.0003	5.396e-05	0.0004	0.0037	9.856e-05	9.844e-05	3.857e-05	0.0002	0.0025	6.006e-05	4.88e-05	0.0014	0.0011	2.409e-05	0	6.539e-05	0	0.0002	0	0	0	0	0.0025	0.003	0.68238	D	0.003	0.76473	D	0.968	0.56581	D	0.231	0.38266	B	0.000774	0.41888	D	0.249502	0.779774	0.29346	N	0.69	0.16971	N	0.85	0.47130	T	-3.56	0.68880	D	0.306	0.34552	-1.0101	0.26886	T	0.057	0.23828	T	10	0.0041200817	0.00081	T	0.025654	0.48617	D	0.204	0.49076	0.24	0.17218	0.181679512989	0.17746	0.3118646853746904	0.31099	0.470711865977	0.46342	0.406107842922	0.25918	T	0.26054	0.63193	T	-0.408554	0.02032	T	-0.359095	0.38158	T	0.180646179985457	0.19275	T	0.936306	0.76101	D	0.24831402	0.47817	0.1578826	0.36896	0.24831402	0.47816	0.1578826	0.36895	-5.957	0.45918	T	.	.	0.144	0.31658	B	.	.	3.403605	0.47185	22.4	0.99675459299329461	0.78912	0.84661	0.43746	D	AEFGBCI	0.638696	0.61702	D	-0.126984821122645	0.36219	2.090682	-0.0596700257803176	0.37075	2.165929	0.999999970897591	0.74766	0.615465	0.37627	0	0.587068	0.34093	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.96	3.19	0.35720	4.631000	0.61002	7.362000	0.58351	-0.153000	0.12021	1.000000	0.71638	0.999000	0.35428	0.233000	0.22815	0.0668:0.121:0.5413:0.2709	5.523	0.16230	937	0.14592	.	.	.	.	.	.	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	919.98	37	chr5	97094954	.	G	A	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.147;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-3.900e-02;SOR=0.712	GT:AD:DP:GQ:PL	0/1:42,38:80:99:934,0,1012	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	1/2:0,22,39,0:61:99:3176,1541,2284,1617,0,1671,2475,2370,1042,3441	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	0/2:40,0,21:61:99:882,1010,3866,0,1728,1584	3	5	12	0
chr5	139325531	139325531	C	A	exonic	MATR3	.	nonsynonymous SNV	MATR3:NM_001194956:exon12:c.C1376A:p.S459Y	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.993	D	0.942	D	0.097	N	0.967	D	0.345	N	-1.12	T	-0.113	T	0.422	T	0.345	3.937	20.1	4.64	2.575	1.610	16.236	0.295	0.0300812869711	.	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs769251601	1.3e-05	1.3e-05	4.084e-06	2.2e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0002	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	0.002	0.78490	D	0.014	0.64786	D	0.826	0.65571	P	0.446	0.67772	B	0.097205	0.20038	N	0.563097	0.945644	0.38537	D	0	0.06538	N	-1.12	0.77593	T	-2.74	0.58248	D	0.382	0.46180	-0.1128	0.79802	T	0.422	0.76684	T	10	0.25253782	0.42609	T	0.030081	0.52463	D	0.295	0.61502	0.421	0.46365	0.694692057958	0.69206	0.2877324485204993	0.28686	0.165407245913	0.18654	0.55164372921	0.46090	T	0.222762	0.58670	T	-0.176104	0.24316	T	-0.216438	0.53079	T	0.401473999023438	0.28997	T	0.934307	0.76748	D	0.37233913	0.58757	0.40192708	0.64689	0.37233913	0.58758	0.40192708	0.64689	-8.019	0.61199	D	0.2169305612442733	0.29188	0.134	0.34250	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.918608	0.57191	23.8	0.99542200529217018	0.70586	0.91191	0.53039	D	AEFGBCI	0.584706	0.58342	D	0.212200008179393	0.51789	3.357542	0.292429909675417	0.55096	3.673068	0.99999999535886	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.64	4.64	0.57399	2.068000	0.41097	5.921000	0.51166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	16.236	0.82198	614	0.66605	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1938.98	38	chr5	139325531	.	C	A	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.476e+00;DP=1199;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=-1.290e-01;SOR=0.887	GT:AD:DP:GQ:PL	0/1:78,77:155:99:1953,0,2174	20	0	1	0
chr5	140849019	140849019	A	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.A524G:p.N175S	.	.	430	1084	7	1	0	9	0.00413413	.	.	2825267	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.051	B	0.07	B	0.113	N	1.000	N	1.765	L	0.73	T	-0.983	T	0.067	T	0.031	1.179	9.795	-3.55	-0.805	-0.114	8.909	0.106	0.00457859111907	0.0067	0.00159744	0.0062	0.0018	0.0048	0.0007	0.0035	0.0098	0.0054	0.0009	0.0013447	35	26028	rs144148683	0.0092	0.0095	0.0096	0.0089	0.0113	0.0091	0.0090	0.0111	0.0111	0.0016	0.0037	0.0015	0.0004	0.0036	0.0019	0.0113	0.0064	0.0006	0.0051	0.0057	0.0057	0.0045	0.0093	0.0048	0.0047	0.0087	0.0085	0.0013	0	0.0029	0.0019	0.0008	0.0024	0	0.0093	0.0027	0.0002	0.414	0.17701	T	0.223	0.33219	T	0.051	0.22415	B	0.07	0.27859	B	0.113132	0.19328	N	0.248113	1	0.81001	D	1.24	0.30952	L	0.73	0.50721	T	-2.55	0.59389	D	0.103	0.08646	-0.9829	0.34328	T	0.067	0.27399	T	10	0.006038487	0.00136	T	0.004579	0.11315	T	0.106	0.30130	.	.	0.399596177874	0.39575	0.14593835870146085	0.14515	.	.	.	.	.	0.033316	0.22864	T	-0.606109	0.00134	T	-0.688962	0.06449	T	0.0111972318146314	0.00164	T	0.80032	0.44736	T	0.054480493	0.10457	0.06389361	0.12723	0.054480493	0.10457	0.06389361	0.12722	-5.295	0.39894	T	.	.	0.053	0.00248	B	.;.	.;.	0.988433	0.13663	10.20	0.87836055382102796	0.17517	0.13875	0.18100	N	AEFDGBCI	0.145452	0.26866	N	-0.900258380287799	0.10836	0.5198317	-0.941970033878938	0.11110	0.5639968	0.00175298078908001	0.08850	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.12	-3.55	0.04343	-0.080000	0.11303	.	.	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.678000	0.33484	0.3989:0.1107:0.4903:0.0	8.909	0.34700	32	0.98147	Cadherin-like|Cadherin-like;.	PCDHB17P|TMCO6	Adipose_Subcutaneous|Thyroid	.	.	.	Likely benign	0	0	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	1539.98	39	chr5	140849019	.	A	G	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.100e-01;DP=946;ExcessHet=0.0000;FS=5.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.11;MQRankSum=-3.122e+00;QD=9.81;ReadPosRankSum=0.847;SOR=0.368	GT:AD:DP:GQ:PL	0/1:90,67:157:99:1554,0,2533	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	0/1:193,156:349:99:4797,0,4963	19	0	2	0
chr5	141188838	141188838	A	G	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.A1520G:p.N507S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.438e-05	0	0	0	0	0.0001	0	0	.	.	.	rs781875698	3.903e-05	3.899e-05	3.406e-05	4.404e-05	4.641e-05	3.05e-05	2.785e-05	1.583e-05	9.3e-06	0	0	0.0016	0	0	0	7.195e-06	4.978e-05	4.641e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	1.47e-05	1.716e-05	1.13e-05	.	.	0	0	0	0.0014	0	0	0	1.47e-05	0	0	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.38746	.	.	.	.	.	.	.	0.12034845	0.22794	T	.	.	.	.	.	.	.	0.591908371553	0.58867	0.09067800669123548	0.09000	.	.	0.628063440323	0.56871	T	.	.	.	-0.332309	0.05938	T	-0.512461	0.21061	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27939	B	.	.	2.547814	0.32975	19.20	0.66207102220763292	0.07991	0.85823	0.45000	D	AEFDI	.	.	.	.	.	.	.	.	.	0.260737215597389	0.18786	0.162113	0.03585	0	0.097471	0.02872	0	0.175069	0.04249	0	0.092715	0.02821	0	0.603821	0.40874	3.15	3.15	0.35301	5.101000	0.64402	.	.	0.384000	0.20435	0.443000	0.26511	0.000000	0.08366	0.058000	0.15825	1.0:0.0:0.0:0.0	11.397	0.49088	667	0.61242	.	.	.	.	.	.	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	3754.98	40	chr5	141188838	.	A	G	3754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.37;DP=1375;ExcessHet=0.0000;FS=3.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.325;SOR=0.883	GT:AD:DP:GQ:PL	0/1:145,132:277:99:3769,0,3993	20	0	1	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	0/1:58,70:128:99:2012,0,1447	19	0	2	0
chr5	141210253	141210253	C	T	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.C1346T:p.P449L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	4.5	H	-1.9	D	1.033	D	0.861	D	0.796	2.917	15.72	3.83	1.859	7.749	15.759	0.764	0.408440668083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	4.69	0.99455	H	-1.9	0.84628	D	-9.92	0.98753	D	0.949	0.95725	1.033	0.97776	D	0.861	0.95376	D	9	0.98770356	0.99150	D	0.408441	0.93547	D	0.764	0.92004	0.805	0.92301	0.960281885884	0.95986	0.5938261753378234	0.59312	0.770983997897	0.64758	0.674611926079	0.63497	T	0.275009	0.64753	T	0.315559	0.84156	D	0.215502	0.83949	D	0.999690413475037	0.98532	D	0.993034	0.97856	D	0.6331495	0.74466	0.5496676	0.73963	0.6331495	0.74467	0.5496676	0.73964	-10.359	0.79262	D	.	.	0.686	0.76897	P	.;.	.;.	3.119746	0.42115	21.5	0.99827250875831097	0.90939	0.99521	0.97020	D	AEFBI	0.858497	0.77602	D	0.697778513042696	0.79487	7.088	0.455232858700013	0.65055	4.775389	0.999999452218939	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	7.883000	0.85762	.	.	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.004000	0.06068	0.0:1.0:0.0:0.0	15.759	0.77832	692	0.58729	.;Cadherin-like|Cadherin conserved site|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	4904.98	61	chr5	141210253	.	C	T	4904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.326e+00;DP=1400;ExcessHet=0.0000;FS=2.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=0.718;QD=13.97;ReadPosRankSum=0.748;SOR=0.584	GT:AD:DP:GQ:PL	0/1:162,189:351:99:4919,0,4341	20	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:153,14,29:196:99:.:.:582,147,6265,0,5136,5165	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:153,14,29:196:99:.:.:582,147,6265,0,5136,5165	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,59:212:99:.:.:857,0,5153	1	0	20	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:187,83:270:99:209,0,3760	6	0	15	0
chr5	146260794	146260794	T	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon12:c.T1789C:p.Y597H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.998	D	0.994	D	0.000	D	1.000	D	1.355	L	0.89	T	-0.925	T	0.192	T	0.716	4.730	26.4	6.17	2.371	7.531	16.822	0.301	0.0112300622531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.146	0.32891	T	0.998	0.73220	D	0.991	0.79672	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	0.89	0.45636	T	-1.87	0.43717	N	0.592	0.64989	-0.9250	0.44858	T	0.192	0.54433	T	10	0.402662	0.55677	T	0.01123	0.28641	T	0.301	0.62179	0.274	0.22528	0.392547445146	0.38869	0.6183007601087724	0.61763	1.19724128425	0.80435	0.887971282005	0.95005	D	0.064149	0.32359	T	0.0824832	0.62332	D	-0.119295	0.61860	T	0.971141874790192	0.69207	D	0.945105	0.79188	D	0.22522666	0.45179	0.20816678	0.45107	0.22522666	0.45179	0.20816678	0.45106	-8.499	0.64423	D	.	.	0.868	0.84317	P	.;.	.;.	4.807834	0.78178	26.8	0.99869411643248385	0.94726	0.99118	0.91490	D	AEFGBI	0.856582	0.77383	D	0.636021285839524	0.75467	6.311013	0.685764201574679	0.81297	7.493972	0.999999998282092	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.509000	0.80581	7.834000	0.70237	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.822	0.85699	747	0.52260	.;.	.	.	.	.	.	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	1097.98	33	chr5	146260794	.	T	C	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-5.210e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1112,0,1320	20	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.984	D	0.935	D	0.000	D	1.000	D	2.24	M	-1.2	T	-0.077	T	0.530	D	0.312	3.405	17.50	0.414	0.113	1.464	8.777	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Uncertain significance	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	0.2273	429.3	78	chr5	146286009	.	G	C	429.3	.	AC=5;AF=0.227;AN=22;BaseQRankSum=-1.959e+00;DP=1556;ExcessHet=1.1607;FS=123.785;InbreedingCoeff=-0.3072;MLEAC=7;MLEAF=0.318;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.696;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,20:94:15:.:.:15,0,1264	6	0	5	10
chr5	150656462	150656462	C	G	exonic	SYNPO	.	nonsynonymous SNV	SYNPO:NM_007286:exon3:c.C2087G:p.P696R,	.	.	383	1137	2	0	0	2	0.000878735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982	D	0.829	P	.	.	1.000	D	0	N	.	.	-0.914	T	0.142	T	0.142	4.582	24.9	4.83	2.218	0.846	14.859	0.191	0.0340453591702	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244756063	1.521e-05	1.642e-05	1.287e-05	1.761e-05	0.0002	9.77e-06	8.3e-06	1.128e-05	9.09e-06	0	2.81e-05	0	0	0	0.0002	1.763e-05	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-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	0.181	0.21884	T	0.092	0.39954	T	0.982	0.60036	D	0.829	0.59562	P	.	.	.	.	0.744604	0.33860	D	.	.	.	.	.	.	-0.21	0.10308	N	0.286	0.32370	-0.9138	0.46377	T	0.142	0.46220	T	7	0.2107158	0.37475	T	0.034045	0.55408	D	0.191	0.46948	0.24	0.17218	0.128874641272	0.12493	.	.	.	.	.	.	.	.	.	.	-0.158763	0.26951	T	-0.465828	0.25966	T	0.634268164634705	0.37795	D	0.630137	0.24490	T	.	.	.	.	.	.	.	.	-4.103	0.25335	T	.	.	0.225	0.45665	B	.	.	4.091227	0.60938	24.3	0.99856661640340616	0.93548	0.75090	0.36751	D	AEFDBHCI	0.303359	0.41136	N	0.189225703818912	0.50682	3.255908	0.2341047611288	0.51750	3.354871	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.166054	0.03999	2	0.297074	0.05519	2	.	.	4.83	4.83	0.61880	0.745000	0.25927	5.760000	0.49678	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	14.859	0.70001	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1319.98	33	chr5	150656462	.	C	G	1319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.820e-01;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.078;SOR=0.723	GT:AD:DP:GQ:PL	0/1:34,53:87:99:1334,0,817	20	0	1	0
chr5	156344500	156344500	G	C	exonic	SGCD	.	nonsynonymous SNV	SGCD:NM_001128209:exon2:c.G12C:p.E4D	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive	.	5	1505	11	1	0	13	0.00430036	.	.	198172	Qualitative_or_quantitative_defects_of_delta-sarcoglycan|Dilated_cardiomyopathy_1L|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F|Limb-girdle_muscular_dystrophy,_recessive|not_specified|not_provided|Cardiomyopathy	MONDO:MONDO:0016144,MedGen:C5680806,Orphanet:207070|MONDO:MONDO:0011702,MedGen:C1847667,OMIM:606685,Orphanet:154|MONDO:MONDO:0011028,MedGen:C1832525,OMIM:601287,Orphanet:219|MedGen:CN239352|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.02	B	0.016	B	0.000	N	0.998	D	1.905	M	1.14	T	-0.474	T	0.533	D	0.196	3.589	18.28	-1.12	-0.431	0.897	7.297	0.160	0.0782502711277	.	0.00139776	0.0014	0	8.643e-05	0	0	0.0003	0	0.0090	0.0011772	182	154602	rs549319429	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0005	0.0066	0.0064	3.077e-05	0.0001	0	2.61e-05	0	0.0014	0.0001	0.0005	0.0071	0.0002	0.0002	0.0002	0.0003	0.0063	0.0002	0.0002	0.0045	0.0039	0	0	6.553e-05	0	0	0	0	7.353e-05	0	0.0063	0.011	0.91255	D	0.02	0.58613	D	0.02	0.18235	B	0.016	0.17743	B	0.000005	0.62929	N	0.104427	0.998174	0.44592	D	2.235	0.63160	M	1.14	0.88533	T	-1.15	0.32387	N	0.473	0.51761	-0.4738	0.69591	T	0.533	0.82694	D	10	0.010187924	0.00228	T	0.07825	0.72961	D	0.160	0.41473	0.171	0.07655	0.483962474653	0.48027	0.5954827068444493	0.59478	0.540378755442	0.51234	0.639851212502	0.58542	T	0.463365	0.79935	T	-0.343514	0.05148	T	-0.260802	0.48744	T	0.0465784911653996	0.04890	T	0.782522	0.45852	T	0.36875156	0.58492	0.2365997	0.48936	0.37244776	0.58766	0.2938531	0.55413	-4.455	0.32260	T	.	.	0.215	0.44449	B	.;.;.	.;.;.	2.454236	0.31607	18.79	0.99589956897968557	0.73572	0.80968	0.40474	D	AEFBI	0.319294	0.42273	N	-0.730608938275205	0.15165	0.7619006	-0.635692617246157	0.18578	0.9930863	0.00502004566095664	0.10797	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	-1.12	0.09306	0.893000	0.27970	0.151000	0.15292	-0.644000	0.04415	0.999000	0.42656	0.200000	0.23563	0.983000	0.59808	0.5805:0.109:0.3105:0.0	7.297	0.25571	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	935.98	34	chr5	156344500	.	G	C	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.333e+00;DP=761;ExcessHet=0.0000;FS=1.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.895;SOR=0.510	GT:AD:DP:GQ:PL	0/1:30,35:65:99:950,0,871	20	0	1	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	1/1:0,407,0:407:99:.:.:18113,1235,0,18113,1235,18113	0	12	1	0
chr5	176098515	176098515	A	G	exonic	FAM153B	.	nonsynonymous SNV	FAM153B:NM_001265615:exon8:c.A263G:p.H88R,	.	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.0	B	.	.	1.000	N	0	N	.	.	-1.026	T	0.012	T	0.378	-2.293	0.004	-2.76	-1.179	-0.169	2.478	0.049	.	0.0089	.	0.0033	0.0411	0.0012	0.0001	0	0	0	0	3.84e-05	1	26028	rs200283180	0.0008	0.0009	0.0009	0.0007	0.0339	0.0008	0.0008	0.0321	0.0313	0.0339	0.0010	0	0	0	0.0009	8.284e-06	0.0018	9.764e-05	0.0072	0.0078	0.0073	0.0071	0.0313	0.0068	0.0066	0.0294	0.0286	0.0313	0	0.0016	0	0	0	0	3.811e-05	0.0023	0	0.0	0.91255	D	0.117	0.92824	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.67	0.54382	N	0.073	0.04668	-1.0257	0.21853	T	0.012	0.04463	T	8	0.004298568	0.00086	T	.	.	.	0.049	0.13647	.	.	0.082315109003	0.07666	0.028005918680444053	0.02750	.	.	0.526669621468	0.42565	T	0.031536	0.22084	T	-0.453256	0.01080	T	-0.400163	0.33364	T	0.0105319072926658	0.00146	T	0.248675	0.03700	T	0.032994315	0.03432	0.029673496	0.01332	0.032994315	0.03432	0.029673496	0.01332	-3.236	0.12926	T	.	.	0.156	0.40794	B	.;.;.;.	.;.;.;.	0.222183	0.06044	2.486	0.09903918931725153	0.00112	0.00312	0.01649	N	AEFI	0.031237	0.03297	N	-1.7118535254222	0.00800	0.03459238	-1.79287271009527	0.00782	0.03489414	6.33886392642029E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	-0.880000	0.04291	-3.067000	0.03091	-0.736000	0.03693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2329:0.3901:0.0:0.377	2.478	0.04301	882	0.29131	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	750.98	39	chr5	176098515	.	A	G	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.823e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.18;MQRankSum=0.771;QD=7.99;ReadPosRankSum=-1.161e+00;SOR=0.482	GT:AD:DP:GQ:PL	0/1:62,32:94:99:765,0,2133	20	0	1	0
chr5	176532411	176532411	C	T	exonic	RNF44	.	nonsynonymous SNV	RNF44:NM_014901:exon2:c.G62A:p.R21Q,	.	.	365	1139	17	1	0	19	0.00827166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.688	P	0.215	B	0.000	N	1.000	D	1.61	L	2.3	T	-1.091	T	0.017	T	0.096	2.425	14.07	1.11	0.109	0.848	8.506	0.074	.	0.0007	0.0061901	0.0024	0.0004	0	0.0227	0	0.0008	0.0031	0.0010	0.0020246	313	154602	rs117169793	0.0013	0.0013	0.0013	0.0013	0.0167	0.0013	0.0013	0.0157	0.0152	0.0002	0.0003	0.0001	0.0167	0	0.0068	0.0009	0.0023	0.0012	0.0013	0.0013	0.0012	0.0015	0.0226	0.0012	0.0011	0.0192	0.0180	0.0002	0	0.0001	0	0.0226	0	0.0034	0.0008	0.0024	0.0025	0.084	0.32929	T	0.526	0.10245	T	0.688	0.41582	P	0.215	0.37512	B	0.000038	0.55875	N	0.067181	0.999995	0.58761	D	1.7	0.43825	L	2.3	0.16953	T	-0.43	0.14390	N	0.237	0.26717	-1.0909	0.05383	T	0.017	0.06950	T	10	0.0046691	0.00098	T	.	.	.	0.074	0.21613	.	.	0.454055122543	0.45028	0.2198440854494892	0.21900	0.217361421455	0.24254	0.356805920601	0.18919	T	0.032138	0.22356	T	-0.631591	0.00093	T	-0.662427	0.08104	T	0.0163321514030714	0.00403	T	0.732627	0.34815	T	0.045558225	0.07478	0.048306227	0.07148	0.045558225	0.07478	0.048306227	0.07147	-5.142	0.38346	T	.	.	0.070	0.03625	B	.	.	1.693977	0.21581	15.26	0.98692335907347883	0.44780	0.34749	0.25140	N	AEFDBCI	0.123638	0.23933	N	-0.612480055738316	0.18569	0.9650616	-0.709287229893424	0.16729	0.8863701	0.999988782678261	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.88	1.11	0.19640	1.223000	0.32131	-0.640000	0.08082	-0.186000	0.09761	0.477000	0.26777	0.001000	0.17328	0.910000	0.44547	0.0:0.7394:0.0:0.2606	8.506	0.32351	522	0.74218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	887.98	34	chr5	176532411	.	C	T	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.990e-01;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=0.872;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,38:88:99:902,0,1320	20	0	1	0
chr5	176584556	176584556	C	T	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon19:c.C2275T:p.R759W	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0.115	N	1.06	T	-1.046	T	0.035	T	0.174	0.372	6.019	-2.31	-0.525	-0.005	6.166	0.028	.	0.0027	0.00399361	0.0009	0.0093	0.0005	0	0	0	0	0.0003	0.0008473	131	154602	rs115808179	0.0002	0.0002	0.0003	0.0002	0.0071	0.0002	0.0002	0.0064	0.0061	0.0071	0.0008	0	0	1.879e-05	0.0007	2.881e-05	0.0006	9.307e-05	0.0027	0.0027	0.0026	0.0027	0.0084	0.0025	0.0024	0.0076	0.0074	0.0084	0	0.0031	0	0.0002	0	0	5.88e-05	0.0028	0.0002	0.058	0.37750	T	0.049	0.48336	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999998	0.08975	N	0.255	0.09829	N	1.06	0.39781	T	0.05	0.06369	N	0.174	0.18649	-1.0455	0.15680	T	0.035	0.15204	T	9	0.010350138	0.00231	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.31865675236647656	0.31778	0.150943117888	0.17036	0.181885242462	0.00112	T	0.005923	0.05364	T	-0.600228	0.00145	T	-0.628423	0.10535	T	0.00634527953363374	0.00070	T	0.676232	0.28483	T	0.10651739	0.25186	0.099119045	0.23655	0.10651739	0.25186	0.099119045	0.23654	-4.938	0.36159	T	.	.	0.049	0.00117	B	.;.;.	.;.;.	0.137222	0.05316	1.808	0.90446810042734072	0.19706	0.00919	0.03578	N	AEFBI	0.148782	0.27274	N	-1.45778844182989	0.02156	0.09490395	-1.44883261806746	0.02780	0.1285196	0.00403495588630131	0.10389	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.12	-2.31	0.06380	0.119000	0.15456	-3.013000	0.03141	-2.836000	0.00176	0.031000	0.20493	0.000000	0.08366	0.001000	0.02609	0.1193:0.3899:0.0:0.4907	6.166	0.19604	373	0.84140	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2659.98	38	chr5	176584556	.	C	T	2659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.090e-01;DP=1208;ExcessHet=0.0000;FS=1.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.722;SOR=0.626	GT:AD:DP:GQ:PL	0/1:86,107:193:99:2674,0,2051	20	0	1	0
chr5	176597314	176597314	T	C	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.A2521G:p.S841G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.936	P	0.553	P	0.207	N	0.780	N	1.995	M	2.78	T	-1.081	T	0.036	T	0.098	2.510	14.35	3.0	0.478	2.297	8.064	0.089	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs574374817	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0064	0.0060	0.0073	0.0017	0	0	0	0	1.083e-05	0.0005	0	0.0027	0.0026	0.0026	0.0027	0.0084	0.0024	0.0024	0.0077	0.0074	0.0084	0	0.0031	0	0	0	0	1.475e-05	0.0029	0	0.004	0.65419	D	0.014	0.62352	D	0.936	0.52359	P	0.553	0.49313	P	0.207331	0.16450	N	0.485711	0.780172	0.29341	N	0	0.06538	N	2.78	0.11298	T	-1.45	0.35597	N	0.183	0.19861	-1.0808	0.07194	T	0.036	0.15640	T	10	0.00769341	0.00175	T	.	.	.	0.089	0.25827	.	.	0.147330786459	0.14319	0.1381788489965584	0.13741	.	.	0.901937603951	0.96652	D	0.002587	0.01974	T	-0.613707	0.00120	T	-0.64821	0.09080	T	0.42113262262471	0.29732	T	0.436756	0.11992	T	0.25363368	0.48387	0.13301699	0.31905	0.25363368	0.48387	0.13301699	0.31905	-4.895	0.35678	T	.	.	0.184	0.39865	B	.	.	3.772579	0.54193	23.5	0.97372776053605992	0.33632	0.74032	0.36211	D	AEFDBHCI	0.429614	0.49266	N	-0.145669542489785	0.35419	2.034181	-0.215346102216848	0.30983	1.749412	0.999983850263538	0.51787	0.685219	0.55550	0	0.541556	0.11502	0	0.674405	0.61402	0	0.56751	0.32155	0	.	.	4.18	3.0	0.33773	1.486000	0.35138	4.696000	0.44387	-0.284000	0.06380	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:0.0958:0.0:0.9042	8.064	0.29812	374	0.84073	.	.	.	.	.	.	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	729.98	34	chr5	176597314	.	T	C	729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.450e+00;DP=784;ExcessHet=0.0000;FS=3.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.018;SOR=0.697	GT:AD:DP:GQ:PL	0/1:37,33:70:99:744,0,978	20	0	1	0
chr5	177386492	177386492	-	GATCCTGGTGACCGTGCTGGT	exonic	SLC34A1	.	nonframeshift insertion	SLC34A1:NM_001167579:exon5:c.458_459insGATCCTGGTGACCGTGCTGGT:p.V160_Q161insILVTVLV	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	27972	not_provided|Fanconi_renotubular_syndrome_2	MedGen:CN517202|MONDO:MONDO:0013247,MedGen:C3150652,OMIM:613388	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0	4.501e-05	0	0	3.84e-05	1	26028	rs876657375	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0007	1.111e-05	9.33e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.709e-05	1.656e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1216.94	39	chr5	177386492	.	G	GGATCCTGGTGACCGTGCTGGT	1216.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.254e+00;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.54;ReadPosRankSum=-1.208e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/1:22,32:54:99:1231,0,831	20	0	1	0
chr5	178884023	178884023	G	A	exonic	ZNF354B	.	nonsynonymous SNV	ZNF354B:NM_058230:exon5:c.G1571A:p.C524Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	0.707	D	3.695	H	-1.94	D	0.990	D	0.810	D	0.763	2.456	14.17	3.52	1.813	5.397	12.600	0.496	0.0163343582157	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910902688	6.157e-06	6.156e-06	9.529e-06	2.75e-06	0.0002	2.9e-06	2.1e-06	0.0001	8.676e-05	0.0002	0	0	0	0	0	0	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.706598	0.33475	D	3.83	0.95627	H	-1.94	0.84919	D	-10.92	0.99258	D	0.617	0.63289	0.990	0.97025	D	0.810	0.93597	D	9	0.9463431	0.93960	D	0.016334	0.37534	T	0.496	0.78100	0.689	0.82653	0.924472473051	0.92370	0.41145712334712814	0.41061	1.2086047739	0.80767	0.865004003048	0.91846	D	0.536097	0.84032	D	0.191127	0.73069	D	0.218292	0.84088	D	0.999335944652557	0.97004	D	0.751225	0.37284	T	0.87964237	0.89637	0.81978583	0.89525	0.87964237	0.89639	0.81978583	0.89525	-13.638	0.91821	D	.	.	0.936	0.85539	P	.	.	3.339383	0.46004	22.2	0.99348608090725099	0.60493	0.66607	0.33137	D	AEFDGBHCI	0.633744	0.61387	D	0.561522962484786	0.70787	5.552972	0.344259587146792	0.58164	3.985254	0.999931752261835	0.46732	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	3.52	3.52	0.39415	8.849000	0.91810	8.203000	0.76806	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.478000	0.28520	0.0:0.0:1.0:0.0	12.600	0.55849	929	0.16858	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	1450.98	40	chr5	178884023	.	G	A	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.450e-01;DP=909;ExcessHet=0.0000;FS=2.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=1.29;SOR=0.839	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1465,0,1799	20	0	1	0
chr5	180620641	180620641	G	A	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_001354989:exon16:c.C2374T:p.L792F	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3257186	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.994	D	.	.	1.000	D	2.375	M	-1.38	T	0.323	D	0.643	D	0.524	3.664	18.62	4.28	2.397	5.378	12.800	0.550	0.284020359531	.	.	2.512e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs765728136	6.844e-06	6.84e-06	6.81e-06	6.879e-06	0.0002	3.46e-06	2.52e-06	9.752e-05	6.952e-05	0.0002	2.236e-05	0	0	0	0	0	3.312e-05	0	6.573e-05	6.567e-05	3.855e-05	9.419e-05	0.0002	3.518e-05	2.617e-05	0.0001	9.942e-05	0.0002	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.998	0.90584	D	0.989	0.82059	D	.	.	.	.	0.999995	0.58761	D	2.69	0.78713	M	-1.39	0.80387	T	-3.1	0.63554	D	0.727	0.76666	0.323	0.87914	D	0.643	0.87544	D	9	0.6023356	0.66982	D	0.28402	0.90332	D	0.550	0.81369	0.419	0.46036	0.673455866971	0.67068	0.747152033019195	0.74661	1.65508607043	0.89608	0.601829528809	0.53162	T	0.554903	0.84996	D	-0.0782117	0.40005	T	-0.0706871	0.65578	T	0.688620626926422	0.40184	D	0.941606	0.78180	D	0.44399524	0.63659	0.48309603	0.70072	0.44399524	0.63660	0.48309603	0.70073	-8.527	0.64608	D	0.6301204882435237	0.69939	0.274	0.50772	B	.;.;.	.;.;.	4.972083	0.82291	27.8	0.99884642007770774	0.95970	0.94550	0.61530	D	AEFDBI	0.508654	0.53845	D	0.659630958093839	0.76993	6.58996	0.591314915418065	0.74315	6.11625	0.999898063901638	0.45129	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.28	4.28	0.50183	5.658000	0.67673	9.857000	0.82030	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0828:0.0:0.9172:0.0	12.800	0.56961	881	0.29269	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2075.98	33	chr5	180620641	.	G	A	2075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.76;DP=892;ExcessHet=0.0000;FS=2.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.391;SOR=0.989	GT:AD:DP:GQ:PL	0/1:75,75:150:99:2090,0,1640	20	0	1	0
chr6	1390759	1390759	A	G	exonic	FOXF2	.	nonsynonymous SNV	FOXF2:NM_001452:exon1:c.A812G:p.H271R,	.	.	80	1440	2	0	0	2	0.000693963	.	.	3198536	FOXF2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.956	P	0.549	P	0.045	N	1.000	D	0.805	L	-3.19	D	-0.018	T	0.535	D	0.515	3.677	18.69	4.46	1.643	3.719	12.594	0.403	0.858769294601	.	.	0.0047	0	0	0	0	0	0	0.0068	0.0001746	27	154602	rs570065652	0.0004	0.0004	0.0002	0.0006	0.0072	0.0004	0.0003	0.0066	0.0064	0	0	0	6.737e-05	0	0.0002	3.42e-05	0.0007	0.0072	0.0002	0.0002	0.0002	0.0003	0.0064	0.0002	0.0001	0.0047	0.0041	0	0	6.54e-05	0	0.0002	0	0	0	0.0005	0.0064	0.125	0.27310	T	0.298	0.20486	T	0.956	0.54666	P	0.549	0.49194	P	0.045037	0.23578	N	0.390052	0.999999	0.58761	D	1.7	0.43825	L	-3.19	0.93170	D	-1.35	0.33598	N	0.296	0.33469	-0.0184	0.81872	T	0.535	0.82781	D	10	0.007617146	0.00173	T	0.858769	0.98915	D	0.403	0.71636	0.287	0.24601	0.893934440895	0.89288	0.5254794846978055	0.52471	.	.	0.919796466827	0.98308	D	0.114524	0.43240	T	-0.198118	0.21076	T	-0.0576409	0.66497	T	0.143841052905572	0.16601	T	0.523848	0.17156	T	0.20929164	0.43192	0.23373395	0.48571	0.20929164	0.43192	0.23373395	0.48570	-9.841	0.72954	D	.	.	0.328	0.55046	B	.;.	.;.	3.814273	0.55040	23.6	0.99187962129827001	0.54877	0.95353	0.64390	D	AEFDGBHCI	0.604492	0.59557	D	0.153478311587817	0.48976	3.103378	0.209756926138186	0.50387	3.231391	0.999999999999999	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.46	4.46	0.53567	1.854000	0.39008	7.296000	0.58072	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.594	0.55810	963	0.08280	.;.	.	.	.	.	.	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	1104.98	44	chr6	1390759	.	A	G	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=833;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.855;SOR=0.588	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1119,0,989	20	0	1	0
chr6	3456196	3456196	C	T	exonic	SLC22A23	.	nonsynonymous SNV	SLC22A23:NM_001286456:exon1:c.G364A:p.D122N	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.907	P	0.346	B	.	.	1.000	D	1.04	L	1.31	T	-1.108	T	0.042	T	0.119	2.979	15.93	3.75	1.776	5.126	15.501	0.093	0.0462096969245	0.0009	0.000599042	0.0027	0	0	0	0	0.0020	0	0.0043	0.0003816	59	154602	rs199852691	0.0007	0.0007	0.0007	0.0008	0.0042	0.0007	0.0007	0.0038	0.0037	3.165e-05	5.602e-05	0.0034	0	0.0002	0.0004	0.0005	0.0006	0.0042	0.0005	0.0005	0.0004	0.0005	0.0029	0.0004	0.0003	0.0018	0.0014	2.408e-05	0	0	0.0029	0	0	0	0.0007	0.0005	0.0029	0.103	0.30097	T	0.206	0.27056	T	0.907	0.50062	P	0.346	0.42645	B	.	.	.	.	0.954506	0.37880	D	1.5	0.37844	L	1.31	0.35405	T	-0.48	0.16799	N	0.294	0.35194	-1.1082	0.03229	T	0.042	0.18160	T	9	0.010188043	0.00228	T	0.04621	0.62348	D	0.093	0.26882	.	.	0.27132560031	0.26736	0.6332780545648596	0.63261	0.634900973074	0.57326	0.536317050457	0.43925	T	0.025438	0.19020	T	-0.531055	0.00379	T	-0.535607	0.18730	T	0.04536036204078	0.04668	T	0.940673	0.77758	D	0.21892568	0.44412	0.20329362	0.44399	0.21892568	0.44412	0.20329362	0.44398	-6.494	0.50240	T	.	.	0.195	0.60405	B	.;.;.	.;.;.	3.339448	0.46013	22.2	0.99465723597409961	0.66049	0.87320	0.46823	D	AEFDBHCI	0.731341	0.67844	D	0.175837615664678	0.50039	3.198011	0.21319278230638	0.50580	3.248435	0.999999999998356	0.74766	0.766844	0.99359	0	0.609123	0.50646	0	0.851219	0.99655	0	0.56751	0.32155	0	.	.	3.75	3.75	0.42236	5.134000	0.64611	5.797000	0.49910	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.501	0.75434	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	1355.98	34	chr6	3456196	.	C	T	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.132e+00;DP=865;ExcessHet=0.0000;FS=5.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-6.150e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/1:78,57:135:99:1370,0,2121	20	0	1	0
chr6	7211646	7211646	A	G	exonic	RREB1	.	nonsynonymous SNV	RREB1:NM_001003698:exon8:c.A644G:p.K215R	.	.	.	.	.	.	.	.	.	.	.	2292271	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.000	D	1.000	D	1.82	L	1.34	T	-0.878	T	0.154	T	0.659	4.867	27.8	6.06	2.324	5.078	15.592	0.257	0.0127810009798	.	.	4.119e-05	0	0.0003	0	0.0002	1.499e-05	0	0	3.23e-05	5	154602	rs766602318	2.394e-05	2.394e-05	3.131e-05	1.65e-05	8.944e-05	1.739e-05	1.539e-05	2.985e-05	1.804e-05	0	8.944e-05	0	0	0.0001	0	2.069e-05	1.656e-05	1.159e-05	2.628e-05	2.627e-05	1.285e-05	4.034e-05	6.545e-05	8.14e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0.0002	0	1.47e-05	0	0	0.009	0.57480	D	0.043	0.51737	D	0.999	0.90584	D	0.997	0.86255	D	0.000005	0.62929	D	0.000000	0.999867	0.50061	D	1.175	0.29870	L	1.34	0.34841	T	-1.52	0.41809	N	0.277	0.33578	-0.8782	0.49903	T	0.154	0.48360	T	10	0.30320936	0.47854	T	0.012781	0.31649	T	0.257	0.56827	.	.	0.495218516369	0.49155	0.5403113294878913	0.53956	1.06211407058	0.76517	0.662581086159	0.61778	T	0.054176	0.29650	T	-0.137527	0.30285	T	-0.209623	0.53732	T	0.415588706731796	0.29526	T	0.875712	0.58780	D	0.12440244	0.29188	0.21887265	0.46605	0.12440244	0.29188	0.21887265	0.46604	-4.708	0.33501	T	.	.	0.121	0.26294	B	.;.;.;.;.	.;.;.;.;.	4.987919	0.82676	27.8	0.99902410085642956	0.97426	0.95491	0.64932	D	AEFBI	0.588461	0.58572	D	0.717854452219402	0.80802	7.375891	0.72654441246886	0.84395	8.279716	0.999994747120494	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.246000	0.65232	9.294000	0.79816	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.592	0.76282	748	0.52143	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1108.98	35	chr6	7211646	.	A	G	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.258;DP=887;ExcessHet=0.0000;FS=7.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=1.44;SOR=1.090	GT:AD:DP:GQ:PL	0/1:68,50:118:99:1123,0,1629	20	0	1	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:30,26,0,0,0,0:56:99:1323,0,1034,1211,1186,2563,1211,1186,2563,2563,1211,1186,2563,2563,2563,1211,1186,2563,2563,2563,2563	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:30,26,0,0,0,0:56:99:1323,0,1034,1211,1186,2563,1211,1186,2563,2563,1211,1186,2563,2563,2563,1211,1186,2563,2563,2563,2563	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:30,26,0,0,0,0:56:99:1323,0,1034,1211,1186,2563,1211,1186,2563,2563,1211,1186,2563,2563,2563,1211,1186,2563,2563,2563,2563	9	0	3	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:41,5,11:57:59:62,59,1503,0,764,749	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:41,5,11:57:59:62,59,1503,0,764,749	2	0	6	2
chr6	27401095	27401095	T	C	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.T725C:p.I242T	.	.	416	1090	14	2	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.999	D	0.978	D	.	.	1.000	N	-0.13	N	3.04	T	-1.014	T	0.008	T	0.12	2.241	13.45	1.61	0.045	0.115	2.646	0.157	.	0.0002	0.00439297	0.0012	0.0001	0.0003	0.0077	0.0014	0.0002	0.0022	0.0028	0.001119	173	154602	rs58690463	0.0016	0.0016	0.0015	0.0017	0.0432	0.0016	0.0015	0.0414	0.0408	5.974e-05	0.0002	3.826e-05	0.0432	0.0011	0.0035	0.0002	0.0011	0.0032	0.0010	0.0010	0.0009	0.0012	0.0191	0.0009	0.0008	0.0160	0.0149	7.226e-05	0	0.0001	0	0.0191	0.0012	0	0.0003	0.0014	0.0029	0.395	0.10659	T	0.156	0.31833	T	0.999	0.77913	D	0.978	0.74104	D	.	.	.	.	1	0.08975	N	-1.01	0.01154	N	3.04	0.08810	T	-1.62	0.38924	N	0.106	0.09066	-1.0136	0.25784	T	0.008	0.02926	T	9	0.008790642	0.00199	T	.	.	.	0.157	0.40909	.	.	0.232513804876	0.22884	0.01728319909283035	0.01683	0.450892133838	0.44853	0.633433222771	0.57632	T	0.061051	0.31551	T	-0.682337	0.00046	T	-0.710412	0.05274	T	0.0445116463601758	0.04513	T	0.0707929	0.00516	T	0.05663609	0.11168	0.06492421	0.13085	0.05663609	0.11167	0.06492421	0.13084	-3.31	0.13866	T	.	.	0.705	0.73165	P	.	.	1.882060	0.23905	16.20	0.99214041864008651	0.55685	0.01138	0.04130	N	AEFGBHCI	0.032638	0.03724	N	-0.415014661257226	0.24942	1.350422	-0.535500767217852	0.21192	1.145254	7.81843071204859E-5	0.04552	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	4.01	1.61	0.22752	-0.246000	0.08896	0.290000	0.16862	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.919000	0.45453	0.1965:0.2262:0.0:0.5773	2.646	0.04683	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1653.98	34	chr6	27401095	.	T	C	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=804;ExcessHet=0.0000;FS=6.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=-7.630e-01;SOR=1.293	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1668,0,1026	20	0	1	0
chr6	29396908	29396908	G	T	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.G209T:p.C70F,	.	.	436	1026	55	3	2	63	0.0288689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.008	B	0.000	D	1.000	N	2.33	M	-1.23	T	-0.710	T	0.229	T	0.182	-0.744	0.833	2.22	0.335	0.409	10.202	0.188	.	0.0053	0.00479233	0.0063	0.0012	0.0044	0.0002	0.0053	0.0065	0.0069	0.0130	0.005705	882	154602	rs36210740	0.0058	0.0058	0.0055	0.0062	0.0265	0.0057	0.0057	0.0231	0.0218	0.0017	0.0055	0.0119	7.557e-05	0.0045	0.0265	0.0053	0.0065	0.0141	0.0051	0.0051	0.0051	0.0052	0.0133	0.0048	0.0047	0.0107	0.0097	0.0017	0.0088	0.0056	0.0124	0.0002	0.0049	0.0102	0.0065	0.0071	0.0133	.	.	.	.	.	.	0.005	0.12996	B	0.008	0.13708	B	0.000217	0.47681	D	0.093597	0.999788	0.20372	N	0.915	0.23335	L	.	.	.	.	.	.	.	.	-0.7101	0.59947	T	0.229	0.59434	T	10	0.006487787	0.00147	T	.	.	.	.	.	.	.	.	.	0.17590871544809583	0.17509	.	.	0.250938415527	0.03867	T	0.008906	0.08144	T	-0.460558	0.00976	T	-0.422012	0.30845	T	0.0155577715639851	0.00353	T	0.59804	0.22252	T	0.17767172	0.38745	0.26035833	0.51798	0.17767172	0.38745	0.26035833	0.51797	-6.265	0.48445	T	.	.	0.105	0.19438	B	.;.	.;.	0.379155	0.07510	4.157	0.74111386093232068	0.10574	0.02074	0.06175	N	AEFBI	0.029282	0.02736	N	-0.758143495804165	0.14413	0.717744	-0.849903892683557	0.13290	0.6886131	9.24015489445909E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	2.22	0.27116	0.853000	0.27431	.	.	0.400000	0.20548	0.000000	0.06391	0.000000	0.08366	0.180000	0.21296	0.0:0.1475:0.6996:0.1529	10.202	0.42266	814	0.42100	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6427.11	34	chr6	29396908	.	G	T	6427.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=3467;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.034e+00;SOR=0.621	GT:AD:DP:GQ:PL	0/1:137,124:261:99:3297,0,3791	19	0	2	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:155,0,25:180:99:.:.:583,1050,7558,0,6508,6433	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,72,13:148:99:.:.:2753,0,2429,2414,2103,5129	3	4	8	2
chr6	29944131	29944131	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.A629G:p.K210R	.	.	2	1498	22	0	0	22	0.0072896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.526	P	0.418	B	0.888	N	1.000	N	2.1	M	2.54	T	-0.942	T	0.021	T	0.439	0.502	6.722	-0.57	0.135	-0.147	4.153	0.061	0.00132195622806	.	0.00359425	0.0001	0.0005	0.0002	0	0	0.0001	0	0	0.0014984	39	26028	rs41557315	3.617e-05	0.0003	3.322e-05	3.916e-05	0.0002	2.809e-05	2.543e-05	3.157e-05	1.853e-05	9.213e-05	9.255e-05	0.0003	0	0	0.0002	2.731e-05	3.393e-05	4.683e-05	0.0002	0.0015	0.0003	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0003	0	0.0002	0.0019	0	0	0	0.0002	0	0	0.009	0.57480	D	0.018	0.60337	D	0.0	0.37632	B	0.008	0.45020	B	0.887501	0.07274	N	1.089720	1	0.08975	N	.	.	.	2.54	0.13916	T	-1.92	0.47514	N	0.119	0.11912	-0.9417	0.42346	T	0.021	0.08686	T	10	0.006624311	0.00150	T	0.001322	0.01860	T	0.061	0.17616	.	.	0.244539031024	0.24083	0.033444072647935544	0.03292	0.673727972877	0.59609	0.276505172253	0.07011	T	0.070272	0.33919	T	-0.163573	0.26211	T	-0.472738	0.25221	T	0.0168572552517478	0.00438	T	0.40306	0.10319	T	0.32628953	0.55165	0.14389357	0.34181	0.32628953	0.55165	0.14389357	0.34180	-9.053	0.68038	D	.	.	0.087	0.14201	B	.;.;.;.;.	.;.;.;.;.	2.100822	0.26729	17.22	0.59713539481296896	0.06289	0.05196	0.11019	N	AEFDBHCI	0.252938	0.37253	N	-0.818626077946385	0.12835	0.6282218	-0.958777827068927	0.10720	0.5417307	0.999998817973529	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	3.69	-0.57	0.11164	-0.012000	0.12637	.	.	0.534000	0.24903	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.4426:0.4323:0.1251:0.0	4.153	0.09711	862	0.33134	Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4400.11	202	chr6	29944131	.	A	G	4400.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.980e-01;DP=5797;ExcessHet=0.1072;FS=0.601;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=48.28;MQRankSum=-3.257e+00;QD=7.73;ReadPosRankSum=1.17;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,82:323:99:0|1:29944131_A_G:2718,0,9833:29944131	19	0	2	0
chr6	30704036	30704036	G	A	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C5147T:p.T1716I,	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.978	D	0.836	P	0.159	N	0.998	N	0.69	N	3.44	T	-0.985	T	0.015	T	0.178	2.787	15.28	4.81	2.632	0.969	14.152	0.048	0.00239458090978	.	0.000199681	0.0001	0	0.0002	0	0	0	0.0022	0.0007	0.00011	17	154602	rs201419005	7.388e-05	7.388e-05	2.995e-05	0.0001	0.0014	6.248e-05	5.807e-05	0.0009	0.0008	0	0	0	2.519e-05	0	0.0014	8.993e-07	0.0001	0.0011	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0006	1.714e-05	1.129e-05	0.0002	9e-05	0	0	0	0	0.0006	0	0	0	0	0.0006	0.006	0.61437	D	0.025	0.56192	D	0.238	0.30817	B	0.058	0.26451	B	0.159405	0.17711	N	0.416829	0.997915	0.22446	N	0.345	0.11182	N	3.44	0.05375	T	-1.99	0.45949	N	0.118	0.10769	-0.9854	0.33735	T	0.015	0.05801	T	10	0.02635789	0.00804	T	0.002395	0.04673	T	0.048	0.13305	.	.	0.495970961353	0.49232	0.17234769118829787	0.17154	0.228667892589	0.25416	0.258152574301	0.04673	T	0.087236	0.37899	T	-0.530883	0.00379	T	-0.585794	0.14032	T	0.119526860218954	0.14383	T	.	.	.	0.026229687	0.01653	0.060275514	0.11451	0.026229687	0.01653	0.060275514	0.11451	-4.363	0.29051	T	.	.	0.111	0.21503	B	.	.	2.054980	0.26127	17.01	0.97219842178322646	0.32896	0.57510	0.30395	D	AEFDGBCI	0.064494	0.12525	N	-0.0257467217613405	0.40693	2.420931	0.0234853122212775	0.40806	2.441346	0.999999919883426	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	0.992000	0.29268	.	.	0.590000	0.31872	0.533000	0.27212	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	14.152	0.64924	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2910.98	37	chr6	30704036	.	G	A	2910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.746e+00;DP=1577;ExcessHet=0.0000;FS=1.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-8.500e-02;SOR=0.718	GT:AD:DP:GQ:PL	0/1:122,111:233:99:2925,0,3426	20	0	1	0
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	0/1:129,140,0:269:99:.:.:3455,0,3133,3843,3554,7396	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	1/1:0,140,0:140:99:.:.:4341,420,0,4341,420,4341	0	13	5	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,108,0,0:193:99:.:.:3624,0,2145,3879,2470,6349,3879,2470,6349,6349	0	0	16	0
chr6	31271207	31271207	G	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C485A:p.T162N	.	.	2	1446	73	1	0	75	0.0252781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.045	B	0.16	B	0.010	U	1.000	N	3.365	M	9.44	T	-0.951	T	0.000	T	0.457	0.381	6.067	-2.67	-0.721	-4.377	8.222	0.058	.	.	.	0.0285	0.0253	0.0185	0.0022	0.0219	0.0416	0.0234	0.0065	0.0026002	402	154602	rs2308584	0.0010	0.0090	0.0010	0.0010	0.0035	0.0009	0.0009	0.0028	0.0026	0.0035	0.0033	0.0073	0.0002	0.0004	0.0017	0.0008	0.0014	0.0005	0.0001	0.0090	8.544e-05	0.0001	0.0001	4.799e-05	3.361e-05	5.375e-05	3.509e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.063	0.45110	T	0.045	0.21781	B	0.16	0.34752	B	0.009683	0.01250	U	771.080000	1	0.08975	N	.	.	.	9.44	0.00008	T	-3.35	0.68298	D	0.07	0.04307	-0.9506	0.40868	T	0.000	0.00075	T	10	0.0056905746	0.00126	T	.	.	.	0.186	0.46104	.	.	.	.	0.11310932799472559	0.11238	0.614770505073	0.55979	0.328787267208	0.14750	T	0.015394	0.12921	T	-0.50846	0.00512	T	-0.468836	0.25641	T	0.0708414355338504	0.08768	T	0.00459954	0.00014	T	.	.	.	.	.	.	.	.	-8.6	0.65089	D	.	.	0.183	0.39647	B	.;.;.	.;.;.	1.252472	0.16495	12.58	0.70026550487147099	0.09162	0.01832	0.05685	N	AEFDGBHCI	0.138209	0.25943	N	-1.20749607607456	0.04889	0.2216519	-1.4198435015477	0.03054	0.1417363	0.999999918893126	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.67	0.05703	-3.847000	0.00395	.	.	-3.701000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	8.222	0.30707	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	chr6:31238984	Likely benign	0	0	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	0.09524	4671.92	173	chr6	31271207	.	G	T	4671.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.70;DP=3662;ExcessHet=0.6776;FS=0.647;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=50.74;MQRankSum=-3.502e+00;QD=5.80;ReadPosRankSum=-1.296e+00;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,50:198:99:.:.:1125,0,5080	17	0	4	0
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	0/1:180,22:202:99:.:.:107,0,6412	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|1:0,66,0:66:99:1|1:31356168_A_C:2970,199,0,2754,199,2679:31356168	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	0|1:81,47,0:128:99:0|1:31356168_A_C:1690,0,3260,1933,3401,5335:31356168	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:17,0,24:41:99:0|1:31356407_C_G:957,1008,1722,0,714,642:31356407	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,24,0:75:99:0|1:31356711_C_CGG:854,0,2069,1008,2141,3149:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:51,0,24:75:99:0|1:31356711_C_CGG:854,1008,3149,0,2141,2069:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,24,0:77:99:0|1:31356711_C_CGG:848,0,2153,1008,2225,3233:31356711	9	1	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,104,0:104:99:1|1:31356747_GCC_G:4680,313,0,4680,313,4680:31356747	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:101,0,54:155:99:0|1:31356809_C_T:1923,2227,6448,0,4221,4058:31356809	0	5	0	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	0/1:52,36,0,0:88:99:.:.:1336,0,2019,1493,2128,3621,1493,2128,3621,3621	2	2	2	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|1:112,50:162:99:0|1:31625601_T_C:1095,0,3788:31625601	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|1:112,50,0:162:99:0|1:31625601_T_C:1095,0,3788,1430,3938,5368:31625601	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|1:112,50,0:162:99:0|1:31625601_T_C:1095,0,3788,1430,3938,5368:31625601	0	0	18	2
chr6	31635991	31635991	C	G	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon25:c.C5566G:p.Q1856E	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.043	B	0.016	B	0.002	N	0.570	D	0.895	L	4.74	T	-0.873	T	0.122	T	0.278	2.011	12.68	5.24	2.732	3.855	15.845	0.072	0.00730667928553	.	.	1.662e-05	0	0	0	0	3.019e-05	0	0	1.94e-05	3	154602	rs778651046	2.259e-05	2.257e-05	1.362e-05	3.164e-05	0.0003	1.611e-05	1.417e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.61e-05	3.314e-05	0	2.628e-05	2.625e-05	2.571e-05	2.687e-05	5.882e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0	0	0.011	0.55530	D	0.44	0.13328	T	0.043	0.21573	B	0.016	0.17743	B	0.002169	0.37095	N	0.123434	0.570468	0.32289	D	0.805	0.20218	L	4.74	0.01604	T	-0.81	0.22294	N	0.34	0.38129	-0.8730	0.50302	T	0.122	0.42420	T	10	0.11939314	0.22593	T	0.007307	0.19388	T	0.072	0.21020	.	.	0.0934897674506	0.08844	0.2711682902211361	0.27029	0.168893101428	0.19044	0.448738276958	0.31772	T	0.021095	0.16491	T	-0.191096	0.22097	T	-0.496786	0.22681	T	0.212953939703503	0.21107	T	0.837116	0.50934	T	0.22830562	0.45547	0.16621943	0.38412	0.22830562	0.45547	0.16621943	0.38411	-3.806	0.20894	T	.	.	0.167	0.40473	B	.;.	.;.	3.510703	0.49159	22.7	0.96445751905559396	0.29844	0.91568	0.53802	D	AEFDBCI	0.622412	0.60674	D	0.310284096703276	0.56675	3.832657	0.39633674338623	0.61339	4.332568	0.999992259434611	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.24	5.24	0.72863	3.890000	0.55932	.	.	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:1.0:0.0:0.0	15.845	0.78661	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	0.02381	2073.98	85	chr6	31635991	.	C	G	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.371;DP=1675;ExcessHet=0.0000;FS=7.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=0.136;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,78:139:99:0|1:31635991_C_G:2088,0,2323:31635991	20	0	1	0
chr6	31766524	31766524	G	A	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon14:c.C2123T:p.A708V,	.	.	432	1089	1	0	0	1	0.000458926	.	.	3338692	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.001	B	0.001	B	0.774	N	1.000	N	0	N	2.71	T	-0.985	T	0.003	T	0.044	-0.292	2.606	-10.2	-3.884	-3.107	0.972	0.019	0.00195016333686	.	.	5.165e-05	0	0	0.0003	0	3.73e-05	0	7.076e-05	3.88e-05	6	154602	rs758285570	1.372e-05	1.779e-05	9.552e-06	1.795e-05	0.0002	8.96e-06	7.29e-06	8.226e-05	5.802e-05	0	0	0	0.0002	0	0	1.081e-05	0	1.162e-05	6.57e-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	0.328	0.13219	T	0.294	0.20745	T	0.001	0.07471	B	0.001	0.04355	B	0.774265	0.06616	N	1.113210	1	0.08975	N	0	0.06538	N	2.71	0.12055	T	-0.99	0.26200	N	0.064	0.03613	-0.9853	0.33760	T	0.003	0.01026	T	10	0.02878958	0.01008	T	0.00195	0.03482	T	0.019	0.03383	0.246	0.18139	0.0138822411134	0.00435	0.2701466447163722	0.26927	0.289332929805	0.31346	0.310638546944	0.12004	T	0.001872	0.01289	T	-0.640481	0.00083	T	-0.865635	0.00784	T	0.0550951792205867	0.06373	T	.	.	.	0.024289249	0.01246	0.040453043	0.04376	0.024289249	0.01245	0.040453043	0.04375	-5.865	0.45136	T	.	.	0.085	0.10256	B	.	.	-0.886167	0.00949	0.037	0.84054234043948095	0.15070	0.02642	0.07243	N	ALL	0.081452	0.16482	N	-2.07067819084958	0.00149	0.006357273	-2.1763094748771	0.00126	0.005557355	1.0	0.98316	0.443343	0.08805	1	0.588066	0.40923	0	0.666236	0.60216	0	0.444512	0.06955	0	.	.	5.11	-10.2	0.00305	-2.948000	0.00744	.	.	-1.982000	0.00461	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2459:0.1219:0.3112:0.321	0.972	0.01328	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	1401.98	35	chr6	31766524	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.666;DP=822;ExcessHet=0.0000;FS=3.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-1.400e-02;SOR=0.780	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1416,0,1706	20	0	1	0
chr6	32189822	32189822	G	C	exonic	PBX2	.	nonsynonymous SNV	PBX2:NM_002586:exon1:c.C94G:p.P32A,	.	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.012	B	0.003	B	0.340	N	0.840	N	0	N	-1.6	D	-1.021	T	0.085	T	0.298	2.454	14.17	2.2	0.343	5.835	4.065	0.252	0.321754005768	.	.	2.067e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs769164458	6.971e-06	8.21e-06	6.932e-06	7.01e-06	0.0002	3.53e-06	2.57e-06	3.168e-05	1.86e-05	0	9.301e-05	0	0	0	0.0002	3.644e-06	0	1.191e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.16520	T	0.56	0.09113	T	0.0	0.02946	B	0.0	0.01387	B	0.340035	0.13978	N	0.589034	0.840006	0.28644	N	0	0.06538	N	-1.6	0.82165	D	-0.38	0.13418	N	0.372	0.41360	-1.0210	0.23389	T	0.085	0.33043	T	10	0.119935244	0.22706	T	0.321754	0.91495	D	0.252	0.56159	0.128	0.03331	0.606721431492	0.60357	0.2916463142253161	0.29077	0.684356733275	0.60216	0.876013994217	0.93416	D	0.097644	0.40067	T	-0.176194	0.24305	T	-0.254198	0.49402	T	0.0439553001066951	0.04412	T	.	.	.	0.059323758	0.12043	0.07257288	0.15673	0.059323758	0.12043	0.07257288	0.15672	-4.258	0.27584	T	.	.	0.048	0.00092	B	.	.	3.139296	0.42451	21.5	0.94831119721266477	0.25611	0.24938	0.22547	N	AEFDBHCI	0.181304	0.30862	N	-0.571011490516086	0.19830	1.040887	-0.380794724056646	0.25570	1.407005	0.999965745332834	0.48965	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.04	2.2	0.26966	2.763000	0.47287	.	.	0.565000	0.28586	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2177:0.1973:0.585:0.0	4.065	0.09336	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	942.98	38	chr6	32189822	.	G	C	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=785;ExcessHet=0.0000;FS=3.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=12.09;ReadPosRankSum=0.430;SOR=1.097	GT:AD:DP:GQ:PL	0/1:40,38:78:99:957,0,931	20	0	1	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	0/3:11,0,0,19,0:30:99:762,796,1259,796,1259,1259,0,463,463,406,796,1259,1259,463,1259	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	0/3:11,0,0,19,0:30:99:762,796,1259,796,1259,1259,0,463,463,406,796,1259,1259,463,1259	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	0/3:11,0,0,19,0:30:99:762,796,1259,796,1259,1259,0,463,463,406,796,1259,1259,463,1259	0	1	4	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,98:98:99:1|1:32521966_C_CTG:4410,4410,4410,295,295,0:32521966	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	0|1:41,52,0,0,0:93:99:0|1:32521957_G_A:2060,0,1565,2183,1722,3905,2183,1722,3905,3905,2183,1722,3905,3905,3905:32521957	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,52:93:99:0|1:32521957_G_A:2060,2183,3905,0,1722,1565:32521957	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,50,41,0:92:99:.:.:3776,1680,1571,2058,0,1976,3779,1722,2099,3821	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|1:31,26,21:78:99:0|1:32522097_T_A:989,0,1223,202,420,1442:32522097	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	1/4:0,41,23,0,50:114:99:.:.:3821,2099,1976,2855,1134,2786,3821,2099,2855,3821,1722,0,756,1722,1571	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|1:73,42,0:115:99:0|1:32522157_C_G:1527,0,2939,1749,3065,4824:32522157	10	1	3	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	11366.22	146	chr6	32522159	.	T	*,A	11366.22	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=-3.000e-01;DP=2451;ExcessHet=0.0011;FS=0.000;InbreedingCoeff=0.5934;MLEAC=6,10;MLEAF=0.143,0.238;MQ=47.73;MQRankSum=-1.671e+00;QD=12.50;ReadPosRankSum=3.36;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,42:115:99:0|1:32522157_C_G:1527,1748,4818,0,3065,2939:32522157	11	0	2	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:71,0,29:100:99:0|1:32530183_CTT_C:960,1173,4134,0,2961,2874:32530183	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|2:0,71,27,0:98:99:1|0:32530183_CTT_C:4234,1125,900,2976,0,2880,4168,1125,2975,4154:32530183	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|3:0,0,26,70:96:99:1|0:32530183_CTT_C:4031,4031,4031,2939,2939,2861,1092,1092,0,881:32530183	0	1	0	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	0/1:153,66,0:237:99:.:.:2311,0,6226,2771,6424,9196	16	0	2	1
chr6	32584159	32584159	T	A	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.A320T:p.Y107F,	.	.	19	1485	18	0	0	18	0.0060241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.004	B	0.019	N	1.000	N	0.95	L	7.94	T	-0.961	T	0.000	T	0.473	0.986	9.025	-6.97	-3.139	-1.695	10.384	0.146	0.00156880872508	.	.	2.882e-05	0	0	0	0	5.168e-05	0	0	.	.	.	rs17879620	8.159e-07	8.338e-06	1.635e-06	0	1.075e-06	0	0	.	.	0	0	0	0	0	0	1.075e-06	0	0	8.192e-06	1.363e-05	0	1.699e-05	1.716e-05	0	0	.	.	0	0	0	0	0	0	0	1.716e-05	0	0	0.1	0.30515	T	0.665	0.06406	T	0.001	0.07471	B	0.004	0.10090	B	0.019402	0.01510	N	2.614030	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.31	0.32791	N	0.069	0.04188	-0.9609	0.39012	T	0.000	0.00075	T	10	0.08406469	0.14051	T	0.001569	0.02497	T	0.146	0.38789	.	.	0.141422826196	0.13715	0.14657268009090976	0.14579	0.665335666029	0.59136	.	.	.	0.015807	0.13185	T	-0.216582	0.18463	T	-0.548881	0.17432	T	0.139853916937205	0.16262	T	0.0555944	0.00401	T	0.29195747	0.52174	0.137562	0.32877	0.29195747	0.52174	0.137562	0.32876	-3.39	0.14922	T	.	.	0.096	0.15251	B	.	.	-2.347648	0.00046	0.001	0.65931025823746126	0.07913	0.00346	0.01789	N	ALL	0.113848	0.22447	N	-1.49287139486699	0.01900	0.08336921	-1.65846557971035	0.01332	0.06014232	0.999999990042277	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-6.97	0.01459	-0.933000	0.04067	.	.	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7845:0.0:0.0954:0.1201	10.384	0.43310	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	163.98	174	chr6	32584159	.	T	A	163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.402;DP=3701;ExcessHet=0.0000;FS=6.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.82;MQRankSum=-3.882e+00;QD=0.68;ReadPosRankSum=-4.231e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,20:240:99:0|1:32584159_T_A:178,0,9178:32584159	20	0	1	0
chr6	32584160	32584160	A	C	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.T319G:p.Y107D,	.	.	19	1485	18	0	0	18	0.0060241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.933	D	0.019	N	1.000	N	3.825	H	7.84	T	-0.978	T	0.002	T	0.561	2.896	15.65	-5.14	-0.641	-1.617	8.996	0.132	0.0015101555701	.	.	2.877e-05	0	0	0	0	5.155e-05	0	0	.	.	.	rs17884043	0	1.251e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.201e-06	1.364e-05	0	1.702e-05	1.716e-05	0	0	.	.	0	0	0	0	0	0	0	1.716e-05	0	0	0.0	0.91255	D	0.04	0.50809	D	0.997	0.70673	D	0.933	0.66815	D	0.019402	0.01510	N	2.614030	1	0.08975	N	.	.	.	7.84	0.00333	T	-5.53	0.86073	D	0.416	0.45615	-0.9779	0.35481	T	0.002	0.00526	T	10	0.40084913	0.55556	T	0.00151	0.02343	T	0.132	0.35948	.	.	0.552367828057	0.54894	0.6090491175066671	0.60836	2.30488031714	0.96506	.	.	.	0.016375	0.13546	T	-0.11443	0.34038	T	-0.402147	0.33136	T	0.985079526901245	0.76178	D	0.0585941	0.00423	T	0.5864999	0.71962	0.74983215	0.85213	0.5864999	0.71963	0.74983215	0.85214	-7.351	0.56558	T	.	.	0.452	0.62301	A	.	.	1.181034	0.15714	12.05	0.96272771664347634	0.29254	0.02291	0.06595	N	ALL	0.194799	0.32186	N	-0.359321827760937	0.26931	1.473667	-0.767686247680322	0.15289	0.8033058	0.999984616475046	0.51787	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-5.14	0.02656	-1.694000	0.02016	.	.	-0.543000	0.04927	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2061:0.6597:0.0:0.1342	8.996	0.35216	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	157.98	174	chr6	32584160	.	A	C	157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=3703;ExcessHet=0.0000;FS=6.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.79;MQRankSum=-3.865e+00;QD=0.65;ReadPosRankSum=-4.085e+00;SOR=1.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,20:242:99:0|1:32584159_T_A:172,0,9262:32584159	20	0	1	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,179,77,0:256:99:.:.:10689,3233,2694,7464,0,7284,10696,3233,7494,10719	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,187,0:266:99:.:.:7533,0,2625,7778,3163,10953	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	0/2:79,0,187:266:99:.:.:7533,7778,10953,0,3163,2625	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|3:248,0,0,35:283:99:0|1:32584159_T_A:688,1435,11807,1435,11807,11807,0,10372,10372,10267:32584159	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|3:248,0,0,35:283:99:0|1:32584159_T_A:688,1435,11807,1435,11807,11807,0,10372,10372,10267:32584159	9	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|2:89,18,74:181:99:0|1:32584303_T_A:2839,2351,6034,0,2981,3514:32584303	12	0	7	0
chr6	32584352	32584352	C	0	exonic	HLA-DRB1	.	.	.	.	.	1	176	25	0	24	49	0.066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3438.47	189	chr6	32584352	.	C	CATGTTTAA,*	3438.47	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=3.60;DP=6521;ExcessHet=1.7912;FS=13.879;InbreedingCoeff=-0.1667;MLEAC=3,3;MLEAF=0.071,0.071;MQ=50.14;MQRankSum=-7.080e+00;QD=3.33;ReadPosRankSum=-2.932e+00;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,45:82:99:0|1:32584303_T_A:1778,1890,3443,0,1554,1418:32584303	15	0	3	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,45:82:99:0|1:32584303_T_A:1778,1890,3443,0,1554,1418:32584303	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|3:37,0,0,45:82:99:0|1:32584303_T_A:1778,1890,3443,1890,3443,3443,0,1554,1554,1418:32584303	2	4	8	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	0/1:226,20:246:99:.:.:159,0,9430	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|2:0,38,54:92:99:0|1:32641436_G_A:3863,2267,2153,1596,0,1433:32641436	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|2:0,54,38:92:99:0|1:32641436_G_A:3863,1596,1433,2267,0,2153:32641436	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	2|2:0,0,94:94:99:1|1:32641430_C_T:4230,4230,4230,283,283,0:32641430	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	2|2:0,0,94:94:99:1|1:32641430_C_T:4230,4230,4230,283,283,0:32641430	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|2:0,48,42,0:90:99:0|1:32641501_G_*:3869,1747,1583,2011,0,1875,3854,1741,2010,3844:32641501	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	1|3:0,62,0,42:104:99:0|1:32641501_G_*:4830,1806,1577,4675,1804,4640,2605,0,2602,2429:32641501	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	1|3:0,62,0,42:104:99:0|1:32641501_G_*:4830,1806,1577,4675,1804,4640,2605,0,2602,2429:32641501	4	0	1	0
chr6	32664869	32664869	G	T	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C308A:p.T103N	.	.	47	1413	29	33	0	95	0.0325231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.972	D	0.634	U	1.000	N	2.61	M	8.06	T	-0.949	T	0.001	T	0.516	1.281	10.19	-2.53	-0.428	-10.749	6.882	0.158	0.00320934890791	.	.	0.0036	0.0038	0.0016	0.0012	0.0020	0.0031	0.0049	0.0085	0.0130335	2015	154602	rs9274387	1.448e-05	0.0002	1.473e-05	1.424e-05	0.0003	8.4e-06	6.57e-06	3.1e-06	2.04e-06	0	0	0	0	0.0001	0.0003	8.631e-06	2.352e-05	0	8.846e-06	0.0004	0	1.827e-05	1.872e-05	0	0	.	.	0	0	0	0	0	0	0	1.872e-05	0	0	0.01	0.56456	D	0.224	0.25591	T	0.118	0.26577	B	0.253	0.39112	B	0.634068	0.10659	U	0.776971	1	0.08975	N	.	.	.	8.06	0.00308	T	-0.92	0.24676	N	0.064	0.03613	-0.9485	0.41228	T	0.001	0.00318	T	10	0.009080023	0.00205	T	0.003209	0.07057	T	0.158	0.41098	.	.	.	.	0.2784650380839335	0.27759	0.661283572157	0.58917	0.304967522621	0.11146	T	0.009157	0.08356	T	-0.18148	0.23516	T	-0.49846	0.22508	T	0.028743839315783	0.01798	T	0.240776	0.03459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.39237	B	.;.;.;.	.;.;.;.	-1.656487	0.00214	0.003	0.96346439753286539	0.29499	0.00415	0.02058	N	ALL	0.101341	0.20356	N	-1.25150793438975	0.04280	0.1928499	-1.46237027539343	0.02660	0.1227418	0.9999999444672	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.87	-2.53	0.05959	-9.210000	0.00017	.	.	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1676:0.3191:0.5133	6.882	0.23358	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	0.04762	737.09	242	chr6	32664869	.	G	T	737.09	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.81;DP=4266;ExcessHet=0.0000;FS=15.501;InbreedingCoeff=0.9992;MLEAC=2;MLEAF=0.048;MQ=55.33;MQRankSum=-8.341e+00;QD=25.76;ReadPosRankSum=-1.590e+00;SOR=2.298	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:51:1|1:32664851_G_C:765,51,0:32664851	20	1	0	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	2|2:0,0,40:40:99:1|1:32664910_A_G:1800,1800,1800,120,120,0:32664910	5	3	5	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L	.	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.100	U	0.722	N	2.475	M	8.26	T	-0.988	T	0.001	T	0.485	1.832	12.08	0.064	-0.130	-0.282	10.579	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.2143	7784.99	221	chr6	32664926	.	G	A	7784.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=5.16;DP=5217;ExcessHet=0.9430;FS=0.663;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=58.26;MQRankSum=-8.878e+00;QD=5.88;ReadPosRankSum=-3.053e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50:50:99:1|1:32664910_A_G:2244,151,0:32664910	13	1	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,91:91:99:1|1:32666523_G_C:4081,4081,4081,274,274,0:32666523	1	1	0	0
chr6	33405564	33405564	C	T	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.C1469T:p.A490V,	.	.	425	1066	29	2	0	33	0.0152425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.21	B	0.066	B	0.011	N	0.998	D	0.595	N	-0.93	T	-0.963	T	0.117	T	0.593	1.280	10.18	5.22	2.720	2.994	9.656	0.274	.	0.0072	0.00858626	0.0095	0.0052	0.0071	0.0127	0.0035	0.0092	0.0066	0.0184	0.0086739	1341	154602	rs7770412	0.0074	0.0074	0.0071	0.0077	0.0178	0.0073	0.0072	0.0150	0.0139	0.0065	0.0079	0.0186	0.0067	0.0024	0.0178	0.0068	0.0083	0.0140	0.0074	0.0074	0.0071	0.0077	0.0124	0.0070	0.0069	0.0099	0.0090	0.0056	0.0132	0.0096	0.0176	0.0073	0.0019	0.0204	0.0080	0.0052	0.0124	0.645	0.04928	T	0.674	0.06225	T	0.21	0.29968	B	0.066	0.27432	B	0.010904	0.29736	N	0.346115	0.998463	0.44953	D	0.49	0.13296	N	-0.93	0.75215	T	0.18	0.05035	N	0.187	0.20395	-0.9628	0.38645	T	0.117	0.41209	T	10	0.0070747435	0.00161	T	.	.	.	0.274	0.59007	.	.	0.81423568031	0.81249	0.16008107338493377	0.15929	0.439190015724	0.43938	0.518590450287	0.41427	T	0.076979	0.35547	T	-0.317038	0.07144	T	-0.215856	0.53135	T	0.0101235349817283	0.00136	T	.	.	.	0.0656567	0.14054	0.101992846	0.24433	0.0656567	0.14054	0.101992846	0.24432	-5.35	0.40435	T	.	.	0.088	0.11606	B	.	.	2.194937	0.27991	17.65	0.90275010401178402	0.19544	0.75607	0.37027	D	AEFBHCI	0.285867	0.39839	N	-0.053084565492623	0.39465	2.327701	0.137089740257219	0.46463	2.891774	0.999999981308219	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.198000	0.42339	4.000000	0.41065	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.967000	0.53440	0.0:0.9081:0.0:0.0919	9.656	0.39087	366	0.84579	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1480.11	33	chr6	33405564	.	C	T	1480.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.200e-02;DP=819;ExcessHet=0.1072;FS=0.629;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-1.260e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1066,0,1011	19	0	2	0
chr6	36217982	36217982	A	G	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon9:c.A3055G:p.S1019G,	.	.	424	1077	20	1	0	22	0.0101103	.	.	2840577	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.022	B	0.021	B	0.123	N	1.000	D	0.695	N	2.28	T	-1.037	T	0.014	T	0.136	2.485	14.27	3.37	1.116	1.870	8.223	0.050	0.00400209447878	0.0023	0.000798722	0.0023	0.0007	0.0046	0.0001	0.0003	0.0030	0.0022	0.0007	0.0022121	342	154602	rs145016452	0.0025	0.0025	0.0024	0.0025	0.0158	0.0024	0.0024	0.0132	0.0122	0.0010	0.0050	0.0144	5.046e-05	0.0002	0.0158	0.0023	0.0043	0.0009	0.0024	0.0024	0.0026	0.0021	0.0048	0.0022	0.0021	0.0040	0.0036	0.0009	0	0.0048	0.0164	0.0002	0	0.0238	0.0024	0.0104	0.0008	0.182	0.21801	T	0.198	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.123094	0.18931	N	0.607803	0.973583	0.81001	D	-0.145	0.04423	N	2.27	0.19311	T	-1.17	0.29933	N	0.131	0.12627	-1.0367	0.18326	T	0.014	0.05417	T	10	0.0041178465	0.00081	T	0.004002	0.09493	T	0.050	0.13987	.	.	0.369144000639	0.36531	0.28869160107086866	0.28782	0.0974772619192	0.11007	0.420283079147	0.27874	T	0.019289	0.15396	T	-0.569351	0.00223	T	-0.590617	0.13612	T	0.0142303462087172	0.00281	T	0.770523	0.41514	T	0.06607664	0.14183	0.06466272	0.12992	0.06607664	0.14182	0.06466272	0.12991	-2.782	0.08994	T	.	.	0.051	0.01197	B	.;.;.	.;.;.	1.496978	0.19252	14.17	0.99343613661217889	0.60291	0.75300	0.36862	D	AEFBI	0.134572	0.25463	N	-0.296461402951068	0.29285	1.622639	-0.102183830566303	0.35303	2.040773	0.999997187942248	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.05	3.37	0.37692	1.894000	0.39401	2.677000	0.33989	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7652:0.0:0.2348:0.0	8.223	0.30714	540	0.73006	.;.;.	.	.	.	.	.	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	1100.98	33	chr6	36217982	.	A	G	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=865;ExcessHet=0.0000;FS=2.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.81;ReadPosRankSum=-2.280e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/1:88,53:141:99:1115,0,2305	20	0	1	0
chr6	36225297	36225297	G	A	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon11:c.G3212A:p.R1071H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.039	B	0.012	B	0.020	N	1.000	D	0	N	1.56	T	-1.074	T	0.015	T	0.177	3.276	17.00	2.91	1.537	1.191	4.736	0.032	0.00614308274187	7.7e-05	.	1.663e-05	0	0	0	0	3.022e-05	0	0	1.29e-05	2	154602	rs370467092	1.304e-05	1.573e-05	1.093e-05	1.516e-05	2.987e-05	8.34e-06	6.72e-06	1.012e-05	8.35e-06	2.987e-05	0	0	0	0	0	1.619e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.45393	T	0.169	0.38742	T	0.0	0.02946	B	0.0	0.01387	B	0.019720	0.27197	N	0.388138	0.986467	0.81001	D	-0.69	0.01958	N	1.56	0.29602	T	0.23	0.14588	N	0.179	0.19325	-1.0738	0.08598	T	0.015	0.06090	T	10	0.07598725	0.11813	T	0.006143	0.16082	T	0.032	0.07718	.	.	0.316310170894	0.31242	0.2894463226146303	0.28857	0.134033539515	0.15102	0.386724978685	0.23207	T	0.016692	0.13750	T	-0.290505	0.09585	T	-0.54741	0.17574	T	0.160428799125403	0.17904	T	0.807619	0.45757	T	0.1178536	0.27777	0.062945746	0.12396	0.1178536	0.27777	0.062945746	0.12395	-3.461	0.15890	T	.	.	0.065	0.10594	B	.;.;.	.;.;.	3.528211	0.49492	22.8	0.99664122327848381	0.78138	0.38035	0.25897	N	ALL	0.082825	0.16775	N	-0.344076318804394	0.27489	1.508675	-0.145191687823133	0.33593	1.923265	0.999999999999997	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	2.91	0.32903	1.533000	0.35645	5.818000	0.50061	0.676000	0.76740	0.786000	0.29545	1.000000	0.68203	0.998000	0.85391	0.2317:0.0:0.5931:0.1753	4.736	0.12364	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	1447.98	34	chr6	36225297	.	G	A	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.270e-01;DP=808;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.062;SOR=0.538	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1462,0,1121	20	0	1	0
chr6	39310919	39310921	AAG	-	exonic	KCNK17	.	nonframeshift deletion	KCNK17:NM_001135111:exon2:c.324_326del:p.F109del	.	.	431	1082	8	1	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00319489	0.0061	0.0012	0.0013	0	0.0039	0.0068	0.0068	0.0147	0.00073	19	26028	rs540653476	0.0072	0.0073	0.0070	0.0075	0.0155	0.0071	0.0071	0.0148	0.0146	0.0010	0.0021	0.0050	2.534e-05	0.0043	0.0068	0.0075	0.0071	0.0155	0.0044	0.0044	0.0042	0.0046	0.0126	0.0041	0.0040	0.0100	0.0091	0.0010	0	0.0048	0.0040	0.0002	0.0044	0.0136	0.0060	0.0038	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	929.94	36	chr6	39310918	.	AAAG	A	929.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=807;ExcessHet=0.0000;FS=0.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=1.22;SOR=0.852	GT:AD:DP:GQ:PL	0/1:37,38:75:99:944,0,1370	20	0	1	0
chr6	41565857	41565857	G	A	exonic	FOXP4	.	nonsynonymous SNV	FOXP4:NM_001012426:exon2:c.G97A:p.G33R	.	.	416	1103	3	0	0	3	0.00135808	.	.	3185089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.027	B	0.004	B	0.474	N	0.882	N	1.1	L	-2.75	D	-0.711	T	0.384	T	0.281	2.069	12.87	4.95	2.291	1.779	10.900	0.196	0.0807603723558	0.0044	0.00139776	0.0036	0.0007	0.0005	0.0002	0.0026	0.0059	0	0.0010	0.0034864	539	154602	rs41273784	0.0041	0.0041	0.0042	0.0039	0.0049	0.0040	0.0039	0.0047	0.0047	0.0009	0.0007	0.0005	5.038e-05	0.0036	0.0028	0.0049	0.0026	0.0011	0.0028	0.0028	0.0032	0.0025	0.0050	0.0026	0.0025	0.0046	0.0044	0.0009	0	0.0010	0.0006	0	0.0030	0	0.0050	0.0019	0.0006	0.376	0.11334	T	0.211	0.26883	T	0.027	0.19556	B	0.004	0.10090	B	0.474140	0.12242	N	0.697253	0.882107	0.28031	N	0.895	0.22405	L	-2.76	0.90904	D	-0.13	0.11547	N	0.135	0.21056	-0.7114	0.59884	T	0.384	0.73958	T	10	0.00581941	0.00130	T	0.08076	0.73532	D	0.196	0.47777	0.273	0.22369	0.500242482652	0.49660	0.1400851319842108	0.13931	0.114460003441	0.12903	0.499404668808	0.38745	T	0.10866	0.42189	T	-0.300637	0.08600	T	-0.200755	0.54574	T	0.0211472406162809	0.00816	T	0.708829	0.31953	T	0.03433621	0.03834	0.058027457	0.10653	0.033882063	0.03695	0.057732303	0.10547	-5.25	0.39734	T	.	.	0.282	0.51515	B	.;.;.;.;.	.;.;.;.;.	2.888914	0.38249	20.7	0.99766738239765551	0.85500	0.95473	0.64861	D	AEFDGBI	0.444006	0.50108	N	-0.214017366736853	0.32557	1.837419	-0.0789031770869767	0.36262	2.108182	0.999999725786244	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	5.176000	0.64865	9.436000	0.80816	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0898:0.0:0.9102:0.0	10.900	0.46255	832	0.38914	.;.;.;.;.	.	.	.	.	.	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	1378.98	34	chr6	41565857	.	G	A	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=830;ExcessHet=0.0000;FS=6.412;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=2.21;SOR=1.338	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1393,0,1168	20	0	1	0
chr6	41786275	41786275	C	G	exonic	PRICKLE4	.	nonsynonymous SNV	PRICKLE4:NM_013397:exon7:c.C730G:p.R244G,	.	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.98	D	0.851	P	0.000	D	1.000	D	2.155	M	-2.33	D	0.177	D	0.654	D	0.645	3.417	17.55	4.81	2.504	6.729	14.908	0.623	.	0.0009	0.00139776	0.0021	0.0005	0.0007	0.0001	0.0002	0.0011	0.0151	0.0105	0.0017852	276	154602	rs141478229	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0082	0.0080	0.0002	0.0004	0	0.0016	3.776e-05	0.0042	0.0008	0.0015	0.0087	0.0008	0.0008	0.0007	0.0010	0.0072	0.0007	0.0007	0.0054	0.0047	0.0002	0	0.0007	0	0.0004	0	0.0034	0.0009	0.0024	0.0072	0.054	0.38633	T	0.073	0.92824	T	0.98	0.59353	D	0.851	0.60700	P	0.000157	0.49130	D	0.000000	0.997875	0.45339	D	2.95	0.84923	M	-2.33	0.87910	D	-3.78	0.73151	D	0.433	0.49602	0.177	0.85527	D	0.654	0.87943	D	10	0.010054141	0.00225	T	.	.	.	0.623	0.85406	.	.	0.846421303689	0.84494	0.7528875862469561	0.75235	1.28768444248	0.82705	0.457758158445	0.33003	T	0.478297	0.80817	T	-0.143665	0.29307	T	0.0275391	0.72118	D	0.041502370032788	0.03963	T	0.808019	0.46271	T	0.25619984	0.48658	0.21566667	0.46164	0.25619984	0.48658	0.21566667	0.46163	-9.845	0.75218	D	.	.	0.275	0.51959	B	.;.;.;.;.	.;.;.;.;.	4.105868	0.61261	24.3	0.99742598182372644	0.83629	0.97948	0.78351	D	AEFDGBCIJ	0.908582	0.86407	D	0.487249171461984	0.66346	4.938092	0.420087740558971	0.62819	4.503771	0.99999999999999	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	4.81	4.81	0.61401	5.834000	0.69064	4.546000	0.43784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0:1.0:0.0:0.0	14.908	0.70381	455	0.79073	.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1399.98	38	chr6	41786275	.	C	G	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.990e-01;DP=843;ExcessHet=0.0000;FS=2.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.750e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1414,0,1316	20	0	1	0
chr6	42269235	42269235	C	T	exonic	TRERF1	.	nonsynonymous SNV	TRERF1:NM_001297573:exon5:c.G356A:p.G119D	.	.	414	1096	12	0	0	12	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.973	D	0.000	D	0.912	D	0.975	L	2.43	T	-1.075	T	0.058	T	0.554	2.964	15.88	4.61	1.291	3.339	14.61	0.114	.	0.0025	0.00299521	0.0046	0.0006	0.0010	0	0.0024	0.0040	0.0066	0.0155	0.0044695	691	154602	rs61756353	0.0043	0.0043	0.0038	0.0048	0.0162	0.0042	0.0041	0.0155	0.0152	0.0008	0.0008	0.0076	0.0001	0.0030	0.0055	0.0037	0.0048	0.0162	0.0029	0.0029	0.0028	0.0030	0.0172	0.0026	0.0026	0.0142	0.0131	0.0006	0.0022	0.0008	0.0058	0.0002	0.0022	0.0102	0.0038	0.0038	0.0172	0.002	0.91255	D	0.057	0.48336	T	0.995	0.77913	D	0.878	0.72923	P	0.000363	0.45194	D	0.096885	0.912135	0.36439	D	0.695	0.17993	N	2.43	0.18875	T	-2.79	0.59226	D	0.626	0.69737	-1.0748	0.08390	T	0.058	0.24279	T	10	0.0070328712	0.00160	T	.	.	.	0.114	0.32008	.	.	0.216943180021	0.21308	0.24270897400202207	0.24184	0.627197894009	0.56825	0.634327828884	0.57759	T	0.029679	0.27572	T	-0.406345	0.02102	T	-0.343489	0.39949	T	0.0176185546823318	0.00495	T	0.879112	0.64770	D	0.5209401	0.68313	0.5594136	0.74510	0.5209401	0.68314	0.5594136	0.74511	-5.609	0.43002	T	.	.	0.317	0.57835	B	.;.;.;.	.;.;.;.	4.058044	0.60201	24.2	0.99731725281614036	0.82833	0.83670	0.42772	D	AEFBCI	0.484819	0.52468	N	0.405515111845698	0.61724	4.377542	0.414588480782751	0.62471	4.463256	0.996181946692031	0.34579	0.67177	0.52595	0	0.633563	0.54681	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.5	4.61	0.56724	2.676000	0.46550	4.929000	0.46112	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7229:0.2771:0.0	14.61	0.68107	874	0.30607	.;.;.;.	.	.	.	.	.	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	1981.98	34	chr6	42269235	.	C	T	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=859;ExcessHet=0.0000;FS=0.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.955;SOR=0.796	GT:AD:DP:GQ:PL	0/1:78,75:153:99:1996,0,2049	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	0/1:80,41:121:99:166,0,1486	4	0	14	3
chr6	55174615	55174615	C	T	exonic	HCRTR2	.	nonsynonymous SNV	HCRTR2:NM_001384272:exon1:c.C28T:p.P10S	.	.	418	1101	3	0	0	3	0.00136054	.	.	3208251	HCRTR2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.71	T	0.001	B	0.003	B	0.017	N	0.951	N	1.1	L	0.25	T	-1.050	T	0.057	T	0.718	1.517	11.02	4.13	1.341	5.151	13.324	0.267	0.0176503206427	0.0023	0.00259585	0.0026	0.0006	0.0010	0	0.0008	0.0030	0.0066	0.0055	0.0025679	397	154602	rs41271310	0.0031	0.0031	0.0030	0.0031	0.0056	0.0030	0.0030	0.0052	0.0050	0.0004	0.0012	0.0018	0	0.0005	0.0021	0.0033	0.0026	0.0056	0.0019	0.0019	0.0019	0.0020	0.0042	0.0018	0.0017	0.0028	0.0027	0.0004	0.0011	0.0016	0.0023	0	0.0004	0	0.0032	0.0014	0.0042	0.087	0.32453	T	0.087	0.40747	T	0.001	0.07471	B	0.003	0.08700	B	0.017390	0.27736	N	0.380586	0.951049	0.26484	N	1.355	0.33814	L	0.25	0.59449	T	0.0	0.07008	N	0.738	0.73826	-1.0501	0.14369	T	0.057	0.23828	T	10	0.0052185953	0.00114	T	0.01765	0.39432	T	0.267	0.58126	.	.	0.72085163809	0.71839	0.5041753501072062	0.50339	0.390692922404	0.40278	0.299265027046	0.10291	T	0.054779	0.29819	T	-0.24989	0.14110	T	-0.130497	0.60930	T	0.0274067404104334	0.01602	T	0.765423	0.39305	T	0.09822756	0.23167	0.19046311	0.42451	0.09822756	0.23167	0.19046311	0.42450	-2.399	0.05127	T	.	.	0.066	0.02145	B	.;.	.;.	2.464590	0.31755	18.84	0.97994691485950525	0.37431	0.83237	0.42371	D	AEFGBI	0.328033	0.42882	N	-0.401890570979003	0.25403	1.378708	-0.26305541734032	0.29326	1.642073	0.996367830045145	0.34695	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.99	4.13	0.47661	4.256000	0.58601	3.973000	0.40841	0.599000	0.40250	0.783000	0.29509	0.259000	0.23971	0.991000	0.66497	0.0:0.9241:0.0:0.0759	13.324	0.59887	807	0.43470	.;.	.	.	.	.	.	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	2723.98	34	chr6	55174615	.	C	T	2723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=922;ExcessHet=0.0000;FS=5.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-1.343e+00;SOR=0.429	GT:AD:DP:GQ:PL	0/1:112,104:216:99:2738,0,2887	20	0	1	0
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	0/1:93,97:190:99:2576,0,2481	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	0/1:48,6,3:60:5:5,0,1072,106,951,1172	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|1:43,20,0:63:99:0|1:80007990_G_C:538,0,1637,666,1695,2362:80007990	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|1:43,21,0,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372,677,1695,2372,2372:80007990	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|1:43,21,0,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372,677,1695,2372,2372:80007990	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|1:43,21,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372:80007990	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|1:43,21,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372:80007990	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|1:43,21,0,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372,677,1695,2372,2372:80007990	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|1:43,21,0,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372,677,1695,2372,2372:80007990	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|1:43,21,0,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372,677,1695,2372,2372:80007990	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|2:43,0,21:64:99:0|1:80007990_G_C:549,677,2372,0,1695,1634:80007990	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|2:43,0,21:64:99:0|1:80007990_G_C:549,677,2372,0,1695,1634:80007990	4	0	4	10
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2870.52	47	chr6	80007997	.	G	GCCCCCA	2870.52	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.779e+00;DP=993;ExcessHet=2.5830;FS=136.989;InbreedingCoeff=-0.2354;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.519;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,20:59:99:0|1:80007990_G_C:519,0,1495:80007990	12	0	7	2
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/2:0,21,25,0:46:99:1849,973,915,876,0,1047,1872,997,1015,1991	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/2:0,21,25,0:46:99:1849,973,915,876,0,1047,1872,997,1015,1991	3	8	1	0
chr6	88053971	88053971	A	C	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon2:c.A234C:p.E78D,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.879	P	0.002	N	0.977	N	2.015	M	1.5	T	-1.064	T	0.090	T	0.34	3.629	18.46	4.62	2.285	2.334	10.565	0.064	0.0143992277048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.102	0.38450	T	0.993	0.65571	D	0.879	0.62418	P	0.001512	0.38793	N	0.183245	0.976599	0.25364	N	2.25	0.63811	M	1.5	0.31205	T	-1.53	0.37178	N	0.271	0.30687	-1.0644	0.10689	T	0.090	0.34655	T	10	0.30606598	0.48119	T	0.014399	0.34491	T	0.064	0.18567	0.333	0.32005	0.664167852428	0.66135	0.4094203460369015	0.40858	0.455815266524	0.45249	0.518364787102	0.41396	T	0.072304	0.34421	T	-0.11349	0.34191	T	-0.400797	0.33291	T	0.960540115833282	0.65832	D	0.617538	0.23656	T	0.3736855	0.58856	0.34410384	0.60112	0.3736855	0.58857	0.34410384	0.60111	-5.136	0.38284	T	.	.	0.455	0.62435	A	.	.	3.542099	0.49755	22.8	0.99863799123708707	0.94184	0.88776	0.48867	D	AEFBI	0.258172	0.37677	N	0.538436909991792	0.69380	5.348794	0.518350179476827	0.69226	5.330181	1.57229585304895E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	4.62	0.56946	2.347000	0.43692	6.902000	0.56873	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.8723:0.0:0.1277:0.0	10.565	0.44354	391	0.83213	.	.	.	.	.	.	Uncertain significance	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	737.98	34	chr6	88053971	.	A	C	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.166e+00;DP=775;ExcessHet=0.0000;FS=5.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-6.300e-01;SOR=1.182	GT:AD:DP:GQ:PL	0/1:49,34:83:99:752,0,1359	20	0	1	0
chr6	89781454	89781454	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon10:c.G1588A:p.E530K,	.	.	426	1081	15	0	0	15	0.00689022	.	.	3211660	MDN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.9	T	0.842	P	0.191	B	0.000	D	0.993	D	0.805	L	4.05	T	-1.048	T	0.009	T	0.606	1.154	9.699	4.71	1.466	2.901	9.367	0.158	.	.	0.00738818	0.0041	0.0002	0.0002	0	0	0.0002	0.0044	0.0288	0.0036028	557	154602	rs541485676	0.0017	0.0017	0.0009	0.0025	0.0259	0.0017	0.0016	0.0250	0.0246	0	0.0003	3.826e-05	2.519e-05	0	0.0035	0.0001	0.0015	0.0259	0.0009	0.0009	0.0004	0.0015	0.0277	0.0008	0.0008	0.0239	0.0225	0	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0277	0.583	0.05936	T	0.845	0.03558	T	0.294	0.32391	B	0.191	0.36391	B	0.000052	0.53742	D	0.165787	0.993363	0.41917	D	2.885	0.83555	M	4.05	0.16794	T	-0.92	0.39119	N	0.591	0.61087	-1.0477	0.15045	T	0.009	0.03011	T	10	0.004194349	0.00083	T	.	.	.	0.158	0.41098	.	.	0.401208672323	0.39738	0.36181159390552403	0.36095	0.195003835191	0.21838	0.420248866081	0.27869	T	0.006624	0.06047	T	-0.428569	0.01512	T	-0.367436	0.37190	T	0.070458642551729	0.08715	T	0.856014	0.54441	D	0.08783694	0.20468	0.102219954	0.24493	0.08783694	0.20468	0.102219954	0.24493	-4.158	0.26141	T	.	.	0.077	0.08224	B	.;.;.	.;.;.	2.891625	0.38301	20.7	0.98014480548616889	0.37582	0.84961	0.44058	D	AEFBCI	0.135125	0.25537	N	-0.262637099284151	0.30601	1.707877	-0.160471697672017	0.33007	1.883656	0.829261178074684	0.24663	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	4.71	0.59010	2.554000	0.45507	3.717000	0.39574	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0:0.779:0.1458:0.0752	9.367	0.37390	632	0.64850	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4036.11	33	chr6	89781454	.	C	T	4036.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.370e-01;DP=1037;ExcessHet=0.1072;FS=3.310;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=1.14;SOR=0.712	GT:AD:DP:GQ:PL	0/1:113,109:222:99:2439,0,2783	19	0	2	0
chr6	109481881	109481881	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_001164313:exon2:c.G146A:p.R49Q	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	.	1	1498	23	0	0	23	0.00761842	.	.	246995	not_specified|Kabuki_syndrome_1|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.999	D	0.977	D	0.000	D	0.771	D	1.035	L	-0.34	T	-0.586	T	0.255	T	0.33	4.304	22.5	4.67	1.313	5.597	15.440	0.273	.	0.0063	0.00439297	0.0066	0.0016	0.0072	0	0.0035	0.0096	0.0055	0.0024	0.0067722	1047	154602	rs147441359	0.0074	0.0074	0.0076	0.0073	0.0097	0.0073	0.0073	0.0082	0.0081	0.0017	0.0078	0.0147	2.519e-05	0.0027	0.0097	0.0083	0.0080	0.0020	0.0061	0.0061	0.0066	0.0055	0.0111	0.0058	0.0056	0.0098	0.0092	0.0017	0.0044	0.0111	0.0127	0.0002	0.0024	0.0136	0.0086	0.0066	0.0021	0.054	0.38633	T	0.009	0.66756	D	0.999	0.77913	D	0.977	0.73820	D	0.000011	0.62929	D	0.108661	0.770652	0.34147	D	1.285	0.32305	L	-0.34	0.68474	T	-0.4	0.13805	N	0.682	0.68863	-0.5862	0.65372	T	0.255	0.62552	T	9	0.014561236	0.00306	T	.	.	.	0.273	0.58883	.	.	0.83713450273	0.83558	0.47293180614030045	0.47212	0.724818736464	0.62416	0.547889888287	0.45560	T	0.148743	0.48744	T	-0.353739	0.04496	T	-0.271503	0.47668	T	0.0111795497330327	0.00164	T	0.808619	0.45852	T	0.15783018	0.35541	0.11235077	0.27107	0.17776781	0.38760	0.11235077	0.27106	-8.917	0.67161	D	.	.	0.251	0.48582	B	.	.	5.526506	0.91831	32	0.99953791682224247	0.99963	0.92268	0.55322	D	AEFBI	0.410141	0.48114	N	0.485232659864742	0.66228	4.923011	0.496600949549412	0.67764	5.127945	0.999999238262081	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.605231	0.38476	0	.	.	5.54	4.67	0.58089	5.646000	0.67590	6.029000	0.52897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.8606:0.1394:0.0	15.440	0.74905	551	0.72115	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1857.98	34	chr6	109481881	.	C	T	1857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=844;ExcessHet=0.0000;FS=6.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-1.495e+00;SOR=1.195	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1872,0,1645	20	0	1	0
chr6	110967611	110967611	T	A	exonic	GTF3C6	.	nonsynonymous SNV	GTF3C6:NM_138408:exon6:c.T463A:p.S155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.001	B	0.864	N	1.000	N	0.55	N	.	.	-0.970	T	0.024	T	0.049	0.608	7.273	1.76	0.087	-0.633	7.685	0.019	0.00350830718814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.356	0.17166	T	0.004	0.12183	B	0.001	0.04355	B	0.863997	0.08874	N	0.940382	1	0.08975	N	0	0.06538	N	.	.	.	-0.64	0.18670	N	0.077	0.05162	-0.9696	0.37283	T	0.024	0.10284	T	9	0.04429856	0.03372	T	0.003508	0.07969	T	0.019	0.03383	0.202	0.11659	0.0297737177859	0.01360	0.10424703385000143	0.10354	0.20160942184	0.22562	0.261545181274	0.05076	T	0.006108	0.05549	T	-0.339016	0.05456	T	-0.724749	0.04569	T	0.031849655908887	0.02282	T	0.390761	0.09705	T	0.0345114	0.03885	0.033070147	0.02143	0.0345114	0.03885	0.033070147	0.02143	-3.698	0.19289	T	.	.	0.064	0.01762	B	.	.	0.159948	0.05504	1.970	0.8700386929118098	0.16921	0.05558	0.11455	N	AEFGBI	0.239082	0.36110	N	-1.02349257663031	0.08118	0.3795192	-1.00875500482365	0.09592	0.4781032	0.549768588616673	0.21324	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	1.76	0.23776	-0.510000	0.06411	-2.030000	0.04319	-0.242000	0.07441	0.009000	0.18154	0.000000	0.08366	0.140000	0.19946	0.0:0.448:0.4482:0.1038	7.685	0.27700	609	0.67094	.	.	.	.	.	.	Uncertain significance	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	843.98	34	chr6	110967611	.	T	A	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.312e+00;DP=761;ExcessHet=0.0000;FS=0.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.125;SOR=0.495	GT:AD:DP:GQ:PL	0/1:31,34:65:99:858,0,813	20	0	1	0
chr6	121447059	121447059	C	T	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C212T:p.P71L,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.979	D	0.000	D	1.000	D	3.675	H	-6.06	D	1.005	D	0.990	D	0.981	5.163	32	5.5	2.585	7.776	19.394	0.987	0.80308488865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239606179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.979	0.74454	D	0.000001	0.84330	D	0.056216	1	0.81001	D	3.78	0.95251	H	-6.06	0.99508	D	-9.07	0.98162	D	0.971	0.98167	1.005	0.97279	D	0.990	0.99708	D	10	0.99403095	0.99916	D	0.803085	0.98461	D	0.987	0.99952	0.919	0.98532	0.994030760964	0.99396	0.9872250244594228	0.98716	1.37094743363	0.84529	0.906715273857	0.97150	D	0.970283	0.99671	D	0.574507	0.96689	D	0.587463	0.96634	D	0.999196231365204	0.96500	D	0.992884	0.97691	D	0.9195683	0.93206	0.87427396	0.93162	0.9195683	0.93206	0.87427396	0.93162	-12.035	0.85021	D	0.9890895693287228	0.99721	0.989	0.93386	P	.;.;.;.;.	.;.;.;.;.	4.657418	0.74301	26.1	0.99822716601073314	0.90502	0.96185	0.67925	D	AEFBCI	0.924880	0.90358	D	0.980170025604979	0.95103	13.31133	0.902196331347405	0.95667	13.84618	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.905000	0.86479	6.027000	0.52873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	0.04762	204.13	35	chr6	121447059	.	C	T	204.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.840e+00;DP=1087;ExcessHet=0.1072;FS=47.181;InbreedingCoeff=-0.0497;MLEAC=2;MLEAF=0.048;MQ=56.94;MQRankSum=-1.301e+00;QD=0.88;ReadPosRankSum=0.762;SOR=7.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,10:114:18:0|1:121447059_C_T:18,0,4202:121447059	19	0	2	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.908	P	0.669	P	0.001	N	1.000	D	1.625	L	-5.54	D	1.093	D	0.938	D	0.697	3.371	17.36	5.5	2.089	9.287	15.605	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	0.075	265.87	35	chr6	121447061	.	A	G	265.87	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.521e+00;DP=1371;ExcessHet=0.3300;FS=52.366;InbreedingCoeff=-0.0947;MLEAC=2;MLEAF=0.050;MQ=56.91;MQRankSum=-1.531e+00;QD=0.76;ReadPosRankSum=1.02;SOR=8.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,10:118:6:0|1:121447059_C_T:6,0,4289:121447059	17	0	3	1
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.7	M	0.85	T	-0.374	T	0.322	T	0.721	4.078	21.0	5.8	2.744	3.418	20.071	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc 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	0.09524	417.94	33	chr6	125927739	.	C	T	417.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.703e+00;DP=1966;ExcessHet=0.6776;FS=168.175;InbreedingCoeff=-0.1056;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.72;SOR=10.928	GT:AD:DP:GQ:PL	0/1:134,39:173:99:164,0,2863	17	0	4	0
chr6	129353336	129353336	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon32:c.C4696T:p.R1566C	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	954349	not_provided|LAMA2-related_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.18	B	0.079	B	0.000	D	1.000	D	1.445	L	0.01	T	-0.942	T	0.123	T	0.457	2.742	15.13	4.88	1.424	3.630	16.279	0.202	0.023691409546	.	.	4.122e-05	0	8.64e-05	0	0	1.5e-05	0	0.0002	4.53e-05	7	154602	rs777964192	3.694e-05	3.694e-05	2.859e-05	4.538e-05	0.0003	2.894e-05	2.592e-05	0.0002	0.0002	5.976e-05	2.236e-05	0	0	0	0.0002	1.349e-05	0.0002	0.0003	6.581e-05	6.57e-05	7.716e-05	5.392e-05	0.0002	3.522e-05	2.62e-05	6.292e-05	4.306e-05	0.0001	0	0	0	0	0	0.0032	2.941e-05	0	0.0002	0.026	0.46910	D	.	.	.	0.124	0.26825	B	0.028	0.21332	B	0.000001	0.84330	D	0.056936	0.999996	0.58761	D	0.72	0.18721	N	0.01	0.62459	T	-0.47	0.15178	N	0.39	0.46368	-0.9422	0.42266	T	0.123	0.42526	T	10	0.29599553	0.47166	T	0.023691	0.46661	T	0.202	0.48754	0.759	0.88811	0.565168447923	0.56179	0.5711101103547355	0.57039	0.125665507597	0.14166	0.412843644619	0.26851	T	0.014991	0.26110	T	-0.237048	0.15728	T	-0.28613	0.46174	T	0.0852709040045738	0.10647	T	0.907809	0.67374	D	0.19854833	0.41762	0.12992142	0.31229	0.19854833	0.41762	0.12992142	0.31229	-9.632	0.71678	D	0.13074796297542654	0.13784	0.314	0.54071	B	.;.;.	.;.;.	3.726023	0.53274	23.3	0.99788680619815417	0.87484	0.80758	0.40315	D	ALL	0.327814	0.42867	N	-0.0521834833809715	0.39505	2.33075	0.101505037874679	0.44626	2.740679	0.999999999999996	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.75	4.88	0.63131	3.664000	0.54263	5.928000	0.51272	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1334:0.8666:0.0:0.0	16.279	0.82485	839	0.37672	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	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	2153.98	33	chr6	129353336	.	C	T	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.502;DP=848;ExcessHet=0.0000;FS=0.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-9.580e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2168,0,1763	20	0	1	0
chr6	135466046	135466046	C	T	exonic	AHI1	.	nonsynonymous SNV	AHI1:NM_001134830:exon5:c.G517A:p.A173T	Joubert syndrome-3, Autosomal recessive	.	0	1490	32	0	0	32	0.0106242	.	.	177234	Joubert_syndrome_3|Familial_aplasia_of_the_vermis|not_provided|not_specified	MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.041	B	0.016	B	0.350	N	1.000	N	1.7	L	0.97	T	-0.981	T	0.038	T	0.153	2.475	14.24	-1.17	-0.091	0.101	10.234	0.034	.	0.0024	0.00199681	0.0040	0.0003	0.0009	0	0.0183	0.0048	0.0067	0.0012	0.0035381	547	154602	rs146416468	0.0029	0.0029	0.0028	0.0031	0.0102	0.0029	0.0028	0.0081	0.0074	0.0004	0.0015	0.0027	2.519e-05	0.0172	0.0102	0.0025	0.0034	0.0014	0.0034	0.0034	0.0029	0.0039	0.0036	0.0031	0.0030	0.0032	0.0031	0.0004	0	0.0031	0.0017	0.0004	0.0175	0.0034	0.0036	0.0033	0.0006	0.557	0.08164	T	0.571	0.08777	T	0.024	0.21357	B	0.007	0.17743	B	0.349557	0.13837	N	0.683391	1	0.08975	N	0.97	0.24054	L	0.97	0.46028	T	-0.39	0.19509	N	0.14	0.14196	-0.9809	0.34794	T	0.038	0.16419	T	10	0.002779305	0.00044	T	.	.	.	0.034	0.08419	.	.	0.319402600006	0.31557	0.05295309781210487	0.05237	0.041224094407	0.04422	0.231245547533	0.02061	T	0.084978	0.37400	T	-0.578793	0.00196	T	-0.604693	0.12419	T	0.000556088640586092	0.00005	T	0.632437	0.24680	T	0.01957443	0.00490	0.038915798	0.03866	0.018655028	0.00388	0.034103762	0.02417	-2.811	0.08285	T	0.08063772157935094	0.04087	0.067	0.09191	B	.;.;.;.;.	.;.;.;.;.	0.217389	0.06002	2.443	0.94834020952696385	0.25617	0.02745	0.07425	N	AEFDGBI	0.028825	0.02611	N	-1.04044411238044	0.07777	0.3623858	-1.09415928708865	0.07814	0.3816261	0.999987952091224	0.51787	0.638212	0.43195	0	0.633563	0.54681	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.49	-1.17	0.09152	0.154000	0.16160	-0.179000	0.11150	-0.850000	0.02721	0.019000	0.19563	0.000000	0.08366	0.015000	0.10482	0.0:0.3766:0.0:0.6234	10.234	0.42450	692	0.58729	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2743.98	34	chr6	135466046	.	C	T	2743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.203;DP=909;ExcessHet=0.0000;FS=3.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-4.770e-01;SOR=0.924	GT:AD:DP:GQ:PL	0/1:95,105:200:99:2758,0,2265	20	0	1	0
chr6	138432919	138432919	C	T	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G1438A:p.A480T	.	.	427	1058	36	1	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.0	B	0.868	N	1.000	N	-0.345	N	1.76	T	-1.030	T	0.007	T	0.037	2.041	12.78	-9.77	-3.554	-0.683	1.197	0.030	.	0.0074	0.00539137	0.0102	0.0009	0.0025	0	0.0037	0.0107	0.0083	0.0147	0.0031177	482	154602	rs150185209	0.0099	0.0094	0.0096	0.0101	0.0143	0.0097	0.0097	0.0136	0.0133	0.0021	0.0067	0.0112	2.798e-05	0.0034	0.0125	0.0104	0.0101	0.0143	0.0068	0.0068	0.0074	0.0061	0.0110	0.0064	0.0063	0.0099	0.0096	0.0019	0.0022	0.0064	0.0115	0	0.0015	0.0034	0.0105	0.0128	0.0110	0.38	0.13349	T	0.413	0.17064	T	0.0	0.02946	B	0.0	0.01387	B	0.867846	0.07157	N	1.059210	1	0.08975	N	0	0.06538	N	1.28	0.35960	T	0.15	0.05310	N	0.043	0.04913	-1.0299	0.20487	T	0.007	0.02439	T	10	0.0028977394	0.00046	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.0740470037905874	0.07341	.	.	0.252881109715	0.04077	T	0.003267	0.02667	T	-0.711784	0.00031	T	-0.783529	0.02348	T	0.00590756167066298	0.00065	T	0.256474	0.04006	T	0.023594005	0.01112	0.031968772	0.01862	0.023594005	0.01112	0.031968772	0.01862	-3.324	0.14537	T	.	.	0.068	0.02927	B	.;.	.;.	-1.418430	0.00347	0.006	0.76993707213963181	0.11693	0.02514	0.07011	N	AEFDBI	0.039203	0.05662	N	-2.21372838507277	0.00071	0.003053304	-2.28566539880462	0.00071	0.003139627	0.999999979122478	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	-9.77	0.00416	-1.424000	0.02554	-2.938000	0.03211	-1.568000	0.00938	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.296:0.0896:0.2469:0.3675	1.197	0.01763	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	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	1903.98	51	chr6	138432919	.	C	T	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.363e+00;DP=1486;ExcessHet=0.0000;FS=3.308;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=0.214;SOR=0.736	GT:AD:DP:GQ:PL	0/1:54,67:121:99:1918,0,1579	20	0	1	0
chr6	142088531	142088531	C	T	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_002511:exon2:c.G128A:p.R43H,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2348833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.989	D	0.648	P	0.058	N	1.000	D	2.015	M	2.12	T	-1.148	T	0.068	T	0.756	4.988	29.2	5.61	2.813	5.897	20.000	0.225	0.0173465764793	7.7e-05	.	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0012	0.0002523	39	154602	rs372711016	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0010	0.0009	8.961e-05	0.0003	0.0002	0	0	0.0017	0.0002	0.0002	0.0012	0.0002	0.0002	0.0003	0.0001	0.0010	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0002	0	0	0	0	0.0002	0	0.0010	0.151	0.24564	T	0.441	0.13290	T	0.989	0.62824	D	0.648	0.52381	P	0.058005	0.22436	N	0.504141	1	0.81001	D	2.505	0.72935	M	2.12	0.19726	T	-0.99	0.26200	N	0.862	0.85872	-1.1478	0.01092	T	0.068	0.27913	T	10	0.44077215	0.58086	T	0.017347	0.39013	T	0.225	0.52323	.	.	0.804478147604	0.80264	0.7398725953467179	0.73932	0.304120174913	0.32729	0.597008526325	0.52482	T	0.050374	0.28578	T	-0.237489	0.15670	T	-0.164354	0.57957	T	0.243506163358688	0.22580	T	0.865913	0.56597	D	0.08905961	0.20795	0.14907658	0.35214	0.08905961	0.20795	0.14907658	0.35213	-6.873	0.53100	T	.	.	0.151	0.33481	B	.	.	3.813814	0.55029	23.6	0.99947544844626157	0.99913	0.83799	0.42894	D	AEFDBCI	0.821577	0.74210	D	0.662827669882128	0.77200	6.629431	0.68703568020346	0.81392	7.516366	0.999999994934185	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	6.072000	0.70870	4.810000	0.45034	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	20.000	0.97405	928	0.17405	.	.	.	.	.	.	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	5103.68	107	chr6	142088531	.	C	T	5103.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.942;DP=984;ExcessHet=0.3300;FS=1.780;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.400;SOR=0.590	GT:AD:DP:GQ:PL	0/1:65,73:138:99:1853,0,1520	18	0	3	0
chr6	152433878	152433878	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon34:c.G4399A:p.V1467I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301996	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.001	B	0.227	N	1.000	N	0.69	N	1.36	T	-1.068	T	0.041	T	0.031	1.485	10.91	-7.11	-1.432	-1.521	18.974	0.070	0.00369947736896	.	0.000199681	0.0002	0	0.0003	0.0003	0	0.0002	0	0.0001	0.000207	32	154602	rs376463379	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0004	5.976e-05	0.0002	0	0.0007	0	0	0.0001	0.0001	9.276e-05	0.0001	0.0001	0.0002	0.0001	0.0008	9.741e-05	8.255e-05	0.0003	0.0002	0.0001	0	0	0	0.0008	0	0	0.0002	0	0.0002	0.504	0.17881	T	0.518	0.18232	T	0.002	0.09854	B	0.0	0.04355	B	0.226792	0.03492	N	1.566410	1	0.08975	N	-0.51	0.02586	N	1.36	0.34452	T	-0.04	0.07882	N	0.044	0.06990	-1.0680	0.09858	T	0.041	0.17530	T	10	0.017098635	0.00363	T	0.003699	0.08558	T	0.070	0.20419	.	.	0.0986583533028	0.09354	0.024673452279633634	0.02418	0.105802100972	0.11961	0.207214340568	0.00699	T	0.078336	0.35868	T	-0.619785	0.00110	T	-0.827731	0.01303	T	0.0101372020909947	0.00137	T	0.738026	0.36245	T	0.028261343	0.02137	0.046550453	0.06513	0.028261343	0.02136	0.046550453	0.06512	-4.362	0.29037	T	.	.	0.062	0.01309	B	.;.;.;.	.;.;.;.	-0.551945	0.01707	0.125	0.72890113557681602	0.10132	0.01629	0.05256	N	AEFI	0.067500	0.13272	N	-1.30804969420144	0.03582	0.1602787	-1.34230790457454	0.03897	0.182738	0.0535540348591579	0.14942	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	-7.11	0.01389	-1.458000	0.02478	-7.369000	0.01171	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.975000	0.56047	0.0:0.6983:0.0:0.3017	18.974	0.92704	734	0.53889	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1701.98	34	chr6	152433878	.	C	T	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=806;ExcessHet=0.0000;FS=3.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-9.530e-01;SOR=0.449	GT:AD:DP:GQ:PL	0/1:51,72:123:99:1716,0,1092	20	0	1	0
chr6	156779356	156779356	G	C	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.G1676C:p.G559A	Coffin-Siris syndrome 1, Autosomal dominant	.	4	1517	1	0	0	1	0.000329489	.	.	2736218	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.002	B	0.007	B	0.240	N	0.982	N	0.345	N	4.7	T	-0.938	T	0.002	T	0.061	1.456	10.81	1.54	1.186	2.617	9.645	0.087	0.374501422523	.	.	0.0021	0	0	0	0	0	0	0.0044	7.12e-05	11	154602	rs777545755	3.644e-05	5.883e-05	1.912e-05	5.455e-05	0.0008	2.711e-05	2.44e-05	0.0006	0.0005	0	0	0	0	0	0	5.319e-06	4.637e-05	0.0008	6.744e-05	6.578e-05	6.592e-05	6.903e-05	0.0019	3.604e-05	2.78e-05	0.0010	0.0007	2.443e-05	0	0	0	0	0	0	0	0	0.0019	0.102	0.30235	T	0.443	0.13215	T	0.001	0.09854	B	0.003	0.12992	B	0.239822	0.03575	N	2.568780	0.981856	0.25008	N	1.245	0.31408	L	4.65	0.01779	T	-0.75	0.21003	N	0.101	0.08366	-0.9377	0.42979	T	0.002	0.00585	T	10	0.011467457	0.00250	T	0.374501	0.92825	D	0.087	0.25287	0.315	0.29096	0.143184338766	0.13958	0.11031842129521922	0.10960	0.565537076153	0.52891	0.943386077881	0.99573	D	0.017672	0.14377	T	-0.564902	0.00237	T	-0.670949	0.07548	T	0.0781142851310297	0.09743	T	0.822818	0.48291	T	0.15443559	0.34956	0.24644384	0.50154	0.15443559	0.34955	0.24644384	0.50153	-4.68	0.33161	T	.	.	0.233	0.52865	B	.;.;.;.	.;.;.;.	3.638693	0.51583	23.1	0.93368557003106556	0.23111	0.08682	0.14576	N	AEFDGBHCI	0.083556	0.16929	N	-0.472590113757143	0.22982	1.230947	-0.348356458898454	0.26561	1.467845	0.999999984216722	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	2.6	1.54	0.22290	1.933000	0.39783	6.067000	0.53222	0.477000	0.22036	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3508:0.6492:0.0	9.645	0.39028	942	0.12992	.;.;.;.	.	.	.	.	.	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	408.98	36	chr6	156779356	.	G	C	408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-4.350e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:15,16:31:99:423,0,411	20	0	1	0
chr6	159234371	159234371	C	A	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon11:c.C3859A:p.P1287T,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.617	P	0.242	B	0.277	N	1.000	N	0.55	N	3.88	T	-0.965	T	0.020	T	0.157	1.975	12.56	-0.655	-0.201	0.370	6.490	0.015	0.00967601177096	.	0.000599042	0.0013	0.0002	0.0022	0	0.0003	0.0015	0.0023	0.0014	0.0010737	166	154602	rs201797201	0.0017	0.0017	0.0016	0.0017	0.0036	0.0016	0.0016	0.0024	0.0020	0.0003	0.0021	0.0006	0	0.0002	0.0036	0.0019	0.0015	0.0013	0.0014	0.0014	0.0015	0.0014	0.0041	0.0013	0.0012	0.0032	0.0030	0.0006	0	0.0041	0.0006	0	0.0002	0	0.0017	0.0009	0.0017	0.008	0.58626	D	0.37	0.16473	T	0.483	0.36807	P	0.057	0.26280	B	0.277144	0.15014	N	0.657496	1	0.08975	N	1.905	0.50856	L	3.06	0.08634	T	-3.9	0.72932	D	0.082	0.05799	-0.9653	0.38151	T	0.020	0.08407	T	10	0.0046663284	0.00098	T	0.009676	0.25290	T	0.037	0.09474	.	.	0.464442853059	0.46069	0.3098162164562044	0.30894	0.180679239249	0.20323	0.372172832489	0.21143	T	0.007498	0.06902	T	-0.595785	0.00155	T	-0.635364	0.10012	T	0.0464747853068908	0.04870	T	0.471053	0.13966	T	0.14436336	0.33139	0.13013615	0.31277	0.14436336	0.33139	0.13013615	0.31276	-4.452	0.30256	T	.	.	0.074	0.04889	B	.	.	0.977686	0.13551	10.08	0.85115919118601646	0.15695	0.12487	0.17299	N	AEFDBI	0.107876	0.21478	N	-0.696723788888787	0.16115	0.8181923	-0.81370396030618	0.14164	0.7386681	0.502040380988315	0.20951	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.56	-0.655	0.10865	-0.058000	0.11707	0.088000	0.14478	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3734:0.4014:0.2252	6.490	0.21309	809	0.43032	.	.	.	.	.	.	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	2540.98	52	chr6	159234371	.	C	A	2540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.987e+00;DP=1426;ExcessHet=0.0000;FS=0.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.194;SOR=0.647	GT:AD:DP:GQ:PL	0/1:101,105:206:99:2555,0,2531	20	0	1	0
chr6	160047864	160047864	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon17:c.G2302A:p.V768I,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	2470107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.037	B	0.008	B	0.113	N	0.989	N	1.05	L	4.44	T	-0.927	T	0.002	T	0.041	1.239	10.03	-0.688	-0.044	-0.017	7.618	0.036	0.00365862989263	.	.	1.648e-05	0	8.639e-05	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs780198115	1.3e-05	1.3e-05	1.225e-05	1.375e-05	5.797e-05	8.31e-06	6.7e-06	2.194e-05	1.43e-05	0	0	0	2.519e-05	0	0	1.079e-05	1.656e-05	5.797e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.247	0.17296	T	0.243	0.24193	T	0.037	0.20876	B	0.008	0.13708	B	0.112744	0.19344	N	0.561024	0.98924	0.24319	N	.	.	.	4.44	0.02139	T	-0.21	0.10308	N	0.137	0.13484	-0.9267	0.44616	T	0.002	0.00615	T	10	0.037943453	0.02181	T	0.003659	0.08433	T	0.036	0.09122	0.433	0.48336	0.0934897674506	0.08844	0.06585162707388681	0.06524	0.0899398325063	0.10148	0.24820266664	0.03581	T	0.071355	0.34187	T	-0.531677	0.00375	T	-0.798839	0.01931	T	0.486311495304108	0.32129	T	0.790821	0.43180	T	0.027304709	0.01904	0.04251864	0.05083	0.027304709	0.01904	0.04251864	0.05082	-5.51	0.41961	T	.	.	0.083	0.08997	B	.;.	.;.	1.148171	0.15359	11.79	0.97235482611795498	0.32969	0.26620	0.23045	N	AEFDBI	0.078758	0.15897	N	-0.773897723705958	0.13992	0.6934912	-0.737370765901367	0.16034	0.8462528	0.938569158911436	0.27348	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	-0.688	0.10748	-0.027000	0.12319	0.098000	0.14610	-0.108000	0.15293	0.003000	0.16062	0.000000	0.08366	0.389000	0.26536	0.3988:0.1148:0.4864:0.0	7.618	0.27336	784	0.47045	.;.	.	.	.	.	.	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	1948.98	34	chr6	160047864	.	G	A	1948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=867;ExcessHet=0.0000;FS=4.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.030;SOR=1.041	GT:AD:DP:GQ:PL	0/1:87,81:168:99:1963,0,2054	20	0	1	0
chr6	165395227	165395227	G	C	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon15:c.C1459G:p.P487A	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	427	1092	3	0	0	3	0.00137174	.	.	413738	not_provided|PDE10A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.999	D	0.988	D	0.000	D	1.000	D	1.15	L	-0.88	T	-0.584	T	0.327	T	0.771	2.988	15.96	5.57	2.619	9.475	19.563	0.514	0.0303236808807	0.0055	0.00239617	0.0045	0.0020	0.0012	0	0.0035	0.0072	0.0011	0.0005	0.0048253	746	154602	rs61733392	0.0069	0.0070	0.0072	0.0067	0.0084	0.0068	0.0068	0.0083	0.0082	0.0010	0.0017	0.0070	0	0.0032	0.0014	0.0084	0.0052	0.0004	0.0047	0.0047	0.0051	0.0042	0.0079	0.0044	0.0043	0.0073	0.0071	0.0017	0.0033	0.0025	0.0058	0	0.0025	0	0.0079	0.0061	0.0010	.	.	.	.	.	.	0.108	0.26116	B	0.024	0.20255	B	0.000002	0.62929	D	0.103311	1	0.81001	D	2.25	0.63811	M	.	.	.	.	.	.	.	.	-0.5835	0.65478	T	0.327	0.69547	T	10	0.0108220875	0.00239	T	0.030324	0.52661	D	0.514	0.79217	.	.	0.596215507535	0.59301	0.9564011803098554	0.95625	1.68445801464	0.90041	0.610611796379	0.54402	T	0.02402	0.54383	T	-0.124018	0.32469	T	0.0537859	0.73833	D	0.0421576177729157	0.04083	T	0.966803	0.87909	D	0.32890666	0.55382	0.17875467	0.40566	0.36651084	0.58326	0.20650785	0.44867	-7.634	0.58952	D	.	.	0.383	0.60894	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314174	0.65970	24.9	0.9649163388610511	0.30009	0.99424	0.95853	D	AEFI	0.914466	0.87786	D	0.306150848548784	0.56464	3.811105	0.445242379398757	0.64412	4.695797	0.9999999978744	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	9.638000	0.97833	11.697000	0.94442	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.563	0.95373	993	0.01300	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1147.98	33	chr6	165395227	.	G	C	1147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.846e+00;DP=832;ExcessHet=0.0000;FS=1.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-1.009e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1162,0,1720	20	0	1	0
chr6	168042717	168042718	GT	-	splicing	KIF25	NM_030615:exon8:r.spl	.	.	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0004	0	8.669e-05	0	0	0	0	0.0034	0.0001921	5	26028	rs538746279	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0002	0.0042	0.0041	0	2.249e-05	0	0	0	0	9.007e-07	0.0002	0.0046	0.0002	0.0002	7.71e-05	0.0003	0.0052	0.0001	9.697e-05	0.0036	0.0031	0	0	0	0	0	0	0	0	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1328.94	33	chr6	168042716	.	GGT	G	1328.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.266;DP=800;ExcessHet=0.0000;FS=4.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.26;ReadPosRankSum=0.409;SOR=1.302	GT:AD:DP:GQ:PL	0/1:42,35:77:99:1343,0,1641	20	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51,0:51:99:1|1:170561949_GCAA_G:1886,154,0,1887,155,1888:170561949	1	15	4	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,42,0,0:89:99:0|1:170561949_GCAA_G:1222,0,1480,1355,1542,4198,1355,1542,4198,4198:170561949	2	1	11	5
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:44,0,47:91:99:1|0:170561949_GCAA_G:1333,1443,4410,0,1728,1333:170561949	1	1	3	2
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,14:30:73:.:.:73,0,221	5	0	14	2
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R,	.	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.999	D	0.861	P	0.785	N	1.000	N	1.04	L	2.4	T	-0.868	T	0.228	T	0.362	0.720	7.833	2.22	0.298	0.162	4.792	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1954.68	34	chr7	1440649	.	C	T	1954.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.161;DP=865;ExcessHet=0.3300;FS=2.385;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=-9.000e-02;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,34:69:99:.:.:760,0,741	18	0	3	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	0/1:40,39,0:79:99:1456,0,1541,1578,1658,3236	12	0	7	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	1/1:1,58,0:59:99:.:.:1719,166,0,1722,173,1729	0	6	14	0
chr7	5313187	5313187	A	0	exonic	TNRC18	.	.	.	.	.	336	1098	17	2	69	90	0.00947226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	896.95	40	chr7	5313187	.	A	G,*	896.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.388;DP=931;ExcessHet=0.6776;FS=0.604;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.20;MQRankSum=-5.399e+00;QD=3.14;ReadPosRankSum=2.54;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,15,0:87:99:0|1:5313187_A_G:413,0,2955,630,3001,3631:5313187	17	0	3	0
chr7	5313194	5313196	CCA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7695_7697del:p.G2566del,	.	.	337	1109	10	1	65	77	0.00538117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0015	0.0030	0	0	0.0002	0	0.0053	3.84e-05	1	26028	rs764373181	0.0003	0.0007	0.0001	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	0.0003	0	0	2.147e-05	0.0015	4.467e-05	0.0003	0.0041	0.0001	0.0006	0.0001	0.0002	0.0023	9.767e-05	8.277e-05	0.0013	0.0010	0	0	0.0001	0	0	0	0	0.0001	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	666.24	40	chr7	5313193	.	GCCA	G,*	666.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.530e-01;DP=931;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.22;MQRankSum=-5.476e+00;QD=3.03;ReadPosRankSum=3.05;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,15,0:86:99:0|1:5313187_A_G:416,0,2920,630,2965,3595:5313187	18	0	2	0
chr7	5313193	5313196	GCCA	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	666.24	40	chr7	5313193	.	GCCA	G,*	666.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.530e-01;DP=931;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.22;MQRankSum=-5.476e+00;QD=3.03;ReadPosRankSum=3.05;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,15,0:86:99:0|1:5313187_A_G:416,0,2920,630,2965,3595:5313187	18	0	2	0
chr7	5313195	5313195	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon27:c.G7696A:p.G2566S,	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	0.970	N	-1.04	N	3.61	T	-0.972	T	0.021	T	0.281	-2.230	0.005	-1.05	-0.388	0.181	7.080	0.019	0.566132589096	.	.	0.0003	0	0	0	0	0	0	0.0007	.	.	.	rs1219465497	4.69e-05	0.0001	4.547e-05	4.837e-05	0.0004	3.77e-05	3.435e-05	0.0003	0.0003	3.174e-05	0	0	0.0002	0	0.0002	2.049e-05	3.475e-05	0.0004	2.64e-05	9.222e-05	2.578e-05	2.705e-05	0.0002	8.17e-06	5.16e-06	.	.	0	0	6.578e-05	0	0.0002	0	0	1.477e-05	0	0.0002	1.0	0.00964	T	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	3.61	0.04446	T	0.32	0.03955	N	0.08	0.09490	-0.9716	0.36862	T	0.021	0.08732	T	9	0.037908286	0.02174	T	0.566133	0.96059	D	0.019	0.03383	0.341	0.33302	0.043077524339	0.03247	0.08017200187297086	0.07952	0.532972911341	0.50740	0.694028973579	0.66284	T	0.003271	0.02677	T	-0.305229	0.08175	T	-0.676217	0.07216	T	0.00504245816284424	0.00054	T	0.40486	0.10377	T	0.0329393	0.03415	0.060975783	0.11699	0.0329393	0.03415	0.060975783	0.11699	0.738	0.00169	T	.	.	0.049	0.00120	B	.;.	.;.	-0.749459	0.01211	0.060	0.69442881910546073	0.08974	0.01164	0.04193	N	AEFDGBHCI	0.027282	0.02201	N	-1.27617096913996	0.03964	0.178059	-1.33243786506907	0.04017	0.1886088	0.00213243111244773	0.09181	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.38	-1.05	0.09523	-0.047000	0.11917	-0.402000	0.09404	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.0:0.4146:0.1264:0.459	7.080	0.24402	946	0.12043	.;.	.	.	.	.	.	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	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:71,0,15:86:99:0|1:5313187_A_G:416,630,3595,0,2965,2920:5313187	17	0	1	0
chr7	5313195	5313195	C	0	exonic	TNRC18	.	.	.	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:71,0,15:86:99:0|1:5313187_A_G:416,630,3595,0,2965,2920:5313187	17	0	1	0
chr7	5313196	5313196	A	0	exonic	TNRC18	.	.	.	.	.	342	1098	6	0	76	82	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313196	.	A	G,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.86;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.12;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:71,0,15:86:99:0|1:5313187_A_G:416,630,3595,0,2965,2920:5313187	17	0	1	0
chr7	5313199	5313199	A	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	926.95	40	chr7	5313199	.	A	G,*	926.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.392;DP=926;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.13;MQRankSum=-5.182e+00;QD=3.30;ReadPosRankSum=2.96;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,15,0:83:99:0|1:5313187_A_G:425,0,2799,630,2845,3474:5313187	17	0	3	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	1/2:1,16,17,0,0,0,0:34:99:1175,561,803,625,0,607,1220,739,671,1368,1220,739,671,1368,1368,1220,739,671,1368,1368,1368,1220,739,671,1368,1368,1368,1368	1	3	5	0
chr7	21741939	21741939	G	C	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon49:c.G7927C:p.V2643L,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.998	D	0.000	D	1.000	D	.	.	0.88	T	-0.671	T	0.286	T	0.581	5.333	34	5.95	2.825	7.539	20.385	0.275	0.0251724644241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.88	0.46028	T	-2.66	0.56945	D	0.573	0.65330	-0.6714	0.61765	T	0.286	0.65821	T	9	0.54496515	0.63931	D	0.025172	0.48148	D	0.275	0.59130	0.437	0.48993	0.585991418203	0.58272	0.33993788932952224	0.33906	.	.	0.556814193726	0.46817	T	0.272636	0.64503	T	-0.014558	0.49626	T	-0.258688	0.48955	T	0.98971563577652	0.79936	D	0.883312	0.60567	D	0.6548574	0.75623	0.76869476	0.86341	0.6548574	0.75624	0.76869476	0.86342	-8.395	0.63732	D	0.5636202732012539	0.63120	0.256	0.49028	B	.;.;.	.;.;.	3.778004	0.54301	23.5	0.99838836200780401	0.91972	0.99467	0.96390	D	AEFBI	0.859520	0.77721	D	0.791648859473149	0.85581	8.618659	0.816326921787252	0.90905	10.624	0.999999998617645	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	7.895000	0.85911	9.847000	0.81963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.385	0.98941	867	0.32089	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1334.98	33	chr7	21741939	.	G	C	1334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=820;ExcessHet=0.0000;FS=5.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.206;SOR=1.225	GT:AD:DP:GQ:PL	0/1:71,48:119:99:1349,0,1892	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	1/1:0,155,0:155:99:.:.:5291,465,0,5025,461,5343	0	18	1	0
chr7	27787572	27787572	A	G	exonic	TAX1BP1	.	nonsynonymous SNV	TAX1BP1:NM_001206902:exon7:c.A536G:p.Q179R	.	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.237	B	0.186	B	0.074	N	0.952	N	1.04	L	3.0	T	-1.010	T	0.019	T	0.227	3.305	17.11	5.98	2.288	6.506	16.478	0.105	0.00483258282072	0.0065	0.00179712	0.0048	0.0012	0.0010	0	0.0038	0.0072	0.0033	0.0030	0.0049094	759	154602	rs143687148	0.0069	0.0069	0.0070	0.0068	0.0083	0.0068	0.0068	0.0081	0.0081	0.0013	0.0016	0.0002	0	0.0034	0.0005	0.0083	0.0052	0.0036	0.0040	0.0040	0.0041	0.0038	0.0069	0.0037	0.0036	0.0063	0.0061	0.0012	0	0.0027	0	0	0.0019	0.0034	0.0069	0.0043	0.0033	0.388	0.14064	T	0.862	0.07518	T	0.017	0.25437	B	0.062	0.30857	B	0.074495	0.21281	N	0.393637	0.951963	0.26454	N	1.745	0.45235	L	3.0	0.09167	T	-0.97	0.29933	N	0.274	0.40164	-1.0099	0.26949	T	0.019	0.08033	T	10	0.008523554	0.00193	T	0.004833	0.12098	T	0.105	0.29889	.	.	0.399596177874	0.39575	0.23626386822353904	0.23541	0.307094407548	0.33010	0.3120251894	0.12213	T	0.133202	0.46375	T	-0.523103	0.00422	T	-0.516359	0.20664	T	0.0222177884636863	0.00933	T	0.805819	0.46129	T	0.11873953	0.27970	0.12128908	0.29265	0.11873953	0.27970	0.12128908	0.29265	-8.442	0.64337	D	.	.	0.090	0.16929	B	.;.;.;.;.	.;.;.;.;.	2.645514	0.34434	19.63	0.99604782926212965	0.74456	0.97839	0.77515	D	AEFGBI	0.747813	0.68975	D	-0.00269411986244252	0.41734	2.501604	0.210865513949011	0.50450	3.236878	0.999999994258441	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.98	5.98	0.97147	6.498000	0.73585	7.997000	0.76135	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.478	0.83988	500	0.76024	.;.;.;Calcium binding and coiled-coil domain-like;Calcium binding and coiled-coil domain-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	465.98	34	chr7	27787572	.	A	G	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=1.33;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,20:44:99:480,0,622	20	0	1	0
chr7	44106852	44106852	C	G	exonic	AEBP1	.	nonsynonymous SNV	AEBP1:NM_001129:exon2:c.C560G:p.P187R,	.	.	420	1094	8	0	0	8	0.00364299	.	.	750649	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.255	B	0.12	B	0.372	N	1.000	N	0.55	N	-3.56	D	-0.211	T	0.647	D	0.292	1.037	9.236	0.628	-0.191	0.273	4.013	0.238	.	0.0013	0.000798722	0.0051	0.0004	0.0002	0	0.0336	0.0059	0.0045	0.0040	0.0028331	438	154602	rs200193837	0.0033	0.0033	0.0033	0.0033	0.0039	0.0032	0.0032	0.0036	0.0035	0.0006	0.0003	7.831e-05	0.0001	0.0179	0.0016	0.0030	0.0031	0.0039	0.0027	0.0027	0.0022	0.0031	0.0029	0.0024	0.0024	0.0026	0.0025	0.0006	0	0.0005	0	0.0002	0.0148	0	0.0029	0.0009	0.0029	0.004	0.65419	D	0.166	0.30828	T	0.255	0.31319	B	0.12	0.32230	B	0.372184	0.04369	N	1.472890	1	0.08975	N	0.805	0.20218	L	-3.56	0.94869	D	-1.22	0.90140	N	0.182	0.19728	-0.2110	0.77388	T	0.647	0.87680	D	10	0.0043455064	0.00088	T	.	.	.	0.238	0.54217	.	.	0.283761946502	0.27984	0.22185666705216384	0.22100	0.0222841121014	0.02237	0.269097685814	0.06023	T	0.072052	0.38864	T	-0.297239	0.08923	T	-0.200021	0.54644	T	0.0095557330640368	0.00124	T	0.517048	0.16713	T	0.078268185	0.17815	0.047372367	0.06808	0.076724626	0.17369	0.04285519	0.05199	-6.013	0.46389	T	.	.	0.064	0.19235	B	.;.	.;.	1.301560	0.17036	12.92	0.98550587988027338	0.42846	0.14938	0.18662	N	AEFDBI	0.118483	0.23166	N	-0.993467503356965	0.08742	0.4110888	-1.01524181308178	0.09449	0.4702044	0.999943077630744	0.47345	0.695654	0.57023	0	0.610034	0.51514	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.89	0.628	0.16854	-0.896000	0.04222	1.037000	0.23526	-0.223000	0.07921	0.000000	0.06391	0.002000	0.18203	0.015000	0.10482	0.3131:0.4966:0.0:0.1903	4.013	0.09119	628	0.65206	.;.	.	.	.	.	.	Likely benign	0	0	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	810.98	32	chr7	44106852	.	C	G	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=676;ExcessHet=0.0000;FS=0.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=2.51;SOR=0.843	GT:AD:DP:GQ:PL	0/1:30,33:63:99:825,0,657	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,154,0:154:99:.:.:4711,462,0,4711,462,4711	8	5	7	0
chr7	45084206	45084206	C	0	exonic	NACAD	.	.	.	.	.	527	929	28	5	33	71	0.0200422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	2190.13	33	chr7	45084206	.	C	T,*	2190.13	.	AC=4,1;AF=0.118,0.029;AN=34;BaseQRankSum=1.42;DP=744;ExcessHet=0.0409;FS=1.942;InbreedingCoeff=0.1581;MLEAC=5,1;MLEAF=0.147,0.029;MQ=50.91;MQRankSum=1.53;QD=12.52;ReadPosRankSum=-2.863e+00;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,24,0:66:99:0|1:45084206_C_T:776,0,1668,909,1742,2685:45084206	13	1	2	4
chr7	45084219	45084338	GAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	-	exonic	NACAD	.	nonframeshift deletion	NACAD:NM_001146334:exon2:c.1842_1961del:p.I625_T664del,	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0061	0	0	0	0.0005	0	0.0004	.	.	.	.	0.0013	0.0015	0.0012	0.0013	0.0048	0.0012	0.0012	0.0038	0.0035	0.0048	0.0017	0.0029	0.0030	0.0040	0.0016	0.0010	0.0018	0.0006	0.0033	0.0017	0.0029	0.0037	0.0160	0.0029	0.0027	0.0132	0.0121	0.0160	0	0.0057	0.0007	0.0025	0.0028	0	0.0011	0.0015	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,28,0:136:99:0|1:45084206_C_T:747,0,4264,1084,4379,5588:45084206	17	0	3	0
chr7	45084218	45084338	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	0	exonic	NACAD	.	.	.	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,28,0:136:99:0|1:45084206_C_T:747,0,4264,1084,4379,5588:45084206	17	0	3	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	773.64	33	chr7	45084224	.	T	A,*	773.64	.	AC=3,4;AF=0.136,0.182;AN=22;BaseQRankSum=1.67;DP=1143;ExcessHet=0.4362;FS=6.611;InbreedingCoeff=0.0073;MLEAC=5,6;MLEAF=0.227,0.273;MQ=47.16;MQRankSum=-4.237e+00;QD=1.81;ReadPosRankSum=-1.513e+00;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:108,0,28:136:99:0|1:45084206_C_T:747,1084,5588,0,4379,4264:45084206	5	1	1	10
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	0/1:71,45,0:116:99:.:.:289,0,1082,482,1202,1684	0	0	17	1
chr7	47846979	47846979	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon32:c.C5053G:p.H1685D,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.538	P	0.077	B	0.644	N	1.000	N	0.55	N	2.21	T	-1.004	T	0.021	T	0.435	0.344	5.867	1.81	0.489	0.401	2.464	0.125	0.00193187805436	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs747708653	1.095e-05	1.094e-05	4.084e-06	1.788e-05	0.0001	6.48e-06	5.25e-06	8.006e-05	6.243e-05	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.20381	T	0.198	0.27767	T	0.538	0.37867	P	0.077	0.28532	B	0.644450	0.05886	N	1.207260	1	0.08975	N	1.61	0.41143	L	2.21	0.18414	T	-2.13	0.48354	N	0.274	0.31027	-1.0039	0.28785	T	0.021	0.09101	T	10	0.14364973	0.27270	T	0.001932	0.03430	T	0.125	0.34456	0.624	0.75916	0.611395899168	0.60827	0.41816229511145075	0.41732	0.133413663276	0.15022	0.341461628675	0.16657	T	0.11903	0.44027	T	-0.346825	0.04929	T	-0.499298	0.22421	T	0.0859614089131355	0.10731	T	0.350365	0.07800	T	0.11474522	0.27086	0.106389634	0.25594	0.11474522	0.27085	0.106389634	0.25593	-7.138	0.55035	T	0.2171034432565706	0.29215	0.144	0.31633	B	.	.	1.076392	0.14590	11.15	0.96285714554836221	0.29295	0.04224	0.09741	N	AEFGBHCI	0.038745	0.05529	N	-0.645575033110178	0.17589	0.9063865	-0.654497723652198	0.18102	0.9656079	0.999931568938745	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.447301	0.06993	0	.	.	5.07	1.81	0.24139	0.646000	0.24486	1.599000	0.27573	0.676000	0.76740	0.005000	0.17040	0.004000	0.18990	0.946000	0.48989	0.1046:0.3203:0.3697:0.2054	2.464	0.04272	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1895.98	42	chr7	47846979	.	G	C	1895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.060e+00;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.408e+00;SOR=0.673	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1910,0,2076	20	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,44:168:99:.:.:110,0,2389	5	0	11	5
chr7	73597302	73597302	G	A	exonic	MLXIPL	.	nonsynonymous SNV	MLXIPL:NM_032951:exon9:c.C1483T:p.P495S	.	.	402	1105	13	2	0	17	0.00763359	.	.	711104	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.077	N	0.983	N	0.695	N	2.52	T	-1.084	T	0.069	T	0.124	2.893	15.64	1.11	0.372	1.475	2.629	0.081	.	.	0.00559105	0.0078	0	0.0009	0	0	0.0004	0.0078	0.0560	0.0032729	506	154602	rs368147395	0.0018	0.0019	0.0010	0.0027	0.0286	0.0018	0.0017	0.0276	0.0272	3.053e-05	2.536e-05	0.0045	2.586e-05	0	0.0012	2.578e-05	0.0022	0.0286	0.0010	0.0010	0.0006	0.0015	0.0270	0.0009	0.0009	0.0232	0.0218	4.856e-05	0	6.589e-05	0.0058	0.0004	0	0.0034	2.947e-05	0	0.0270	0.0	0.91255	D	0.131	0.37730	T	0.969	0.68779	D	0.829	0.79672	P	0.076904	0.21135	N	0.430280	0.983435	0.24884	N	2.125	0.59049	M	2.51	0.23283	T	-1.17	0.29933	N	0.189	0.20660	-1.0840	0.06591	T	0.069	0.28147	T	10	0.0030032694	0.00049	T	.	.	.	0.081	0.23632	.	.	0.182106788282	0.17826	0.3149813321233919	0.31411	0.0963186625916	0.10868	0.477796912193	0.35754	T	0.039069	0.25061	T	-0.549449	0.00294	T	-0.539024	0.18393	T	0.0555859859478633	0.06454	T	0.713029	0.32612	T	0.09517895	0.22395	0.07232947	0.15590	0.09517895	0.22395	0.07232947	0.15590	-4.548	0.31512	T	.	.	0.087	0.11941	B	.;.;.;.;.	.;.;.;.;.	2.558262	0.33127	19.25	0.99824324060117509	0.90677	0.72846	0.35643	D	AEFDBCI	0.353582	0.44595	N	0.146426265662712	0.48642	3.074054	0.0982920687004272	0.44464	2.727589	0.0045435966677102	0.10609	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.34	1.11	0.19640	0.593000	0.23700	0.947000	0.22895	0.575000	0.29119	0.736000	0.28985	0.998000	0.33993	0.973000	0.55318	0.1078:0.1839:0.5194:0.1889	2.629	0.04640	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2330.11	40	chr7	73597302	.	G	A	2330.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.038;DP=943;ExcessHet=0.1072;FS=1.904;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=2.06;SOR=0.884	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1349,0,1150	19	0	2	0
chr7	76235214	76235214	G	A	exonic	SRRM3	.	nonsynonymous SNV	SRRM3:NM_001110199:exon2:c.G148A:p.A50T	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.968	D	0.000	D	0.973	D	0.895	L	.	.	-0.459	T	0.269	T	0.334	4.725	26.3	4.63	2.153	4.486	16.119	0.188	0.0636122733647	.	0.00159744	0.0018	0	0.0019	0	0	0	0	0.0043	0.0003881	60	154602	rs530430404	0.0002	0.0002	0.0001	0.0003	0.0040	0.0002	0.0002	0.0037	0.0035	0	2.689e-05	0	0	0	0	9.179e-07	0.0002	0.0040	0.0001	0.0001	8.992e-05	0.0001	0.0035	7.084e-05	5.742e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	.	.	.	0.126	0.35205	T	.	.	.	.	.	.	0.000218	0.47681	D	0.000000	0.972798	0.38974	D	.	.	.	.	.	.	.	.	.	0.312	0.35194	-0.4590	0.70101	T	0.269	0.64077	T	9	0.00849843	0.00193	T	0.063612	0.69022	D	.	.	.	.	0.043077524339	0.03247	0.6580226204664619	0.65739	.	.	0.845474243164	0.88930	D	.	.	.	-0.341831	0.05262	T	-0.265898	0.48233	T	0.11180255689443	0.13608	T	0.940606	0.77652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	0.74249	P	.	.	5.301380	0.89001	29.8	0.99902204930454752	0.97350	0.80550	0.40158	D	ALL	0.555854	0.56612	D	0.474456436466931	0.65603	4.84333	0.46750038872442	0.65848	4.875949	0.999999999998584	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.239995	0.05000	1	0.603991	0.37454	0	.	.	4.63	4.63	0.57175	4.645000	0.61100	9.667000	0.81209	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:1.0:0.0	16.119	0.81135	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	0	0	0	0	0.04762	2271.11	40	chr7	76235214	.	G	A	2271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.81;DP=836;ExcessHet=0.1072;FS=0.578;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=1.12;SOR=0.760	GT:AD:DP:GQ:PL	0/1:28,51:79:99:1363,0,570	19	0	2	0
chr7	80672798	80672808	AACGGCTGCAG	-	exonic	CD36	.	frameshift deletion	CD36:NM_001289908:exon8:c.1037_1047del:p.K346Sfs*29	Platelet glycoprotein IV deficiency, Autosomal recessive	.	4	1511	7	0	0	7	0.00231099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.596e-06	1.163e-05	8.184e-06	1.102e-05	0.0014	5.57e-06	4.36e-06	0.0007	0.0005	0	0	0	0	0	0.0014	0	9.966e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	312.94	33	chr7	80672797	.	AAACGGCTGCAG	A	312.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=726;ExcessHet=0.0000;FS=5.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-5.630e-01;SOR=1.527	GT:AD:DP:GQ:PL	0/1:30,10:40:99:327,0,1229	20	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,25:174:99:.:.:303,0,4884	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,38:177:99:.:.:420,0,4863	2	0	19	0
chr7	93462091	93462091	G	A	exonic	CALCR	.	nonsynonymous SNV	CALCR:NM_001164737:exon9:c.C541T:p.P181S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.007	B	0.005	B	.	.	1.000	N	0	N	0.85	T	-1.040	T	0.057	T	0.144	-1.182	0.082	-0.438	-0.124	-0.011	5.079	0.011	0.00141853476308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs865850060	2.222e-06	4.79e-06	0	4.489e-06	0.0004	5.9e-07	1.6e-07	6.261e-05	2.584e-05	0	0	0	0	0	0.0004	0	0	1.328e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.84	0.47477	T	-0.36	0.13035	N	0.221	0.27435	-1.0403	0.17223	T	0.057	0.23904	T	9	0.0828574	0.13721	T	0.001419	0.02113	T	0.011	0.01250	.	.	0.467923293426	0.46417	0.1811747590268649	0.18036	0.186215798921	0.20930	.	.	.	0.012055	0.10661	T	-0.238385	0.15554	T	-0.5802	0.14526	T	0.0822226216782771	0.10270	T	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28521	B	.;.;.	.;.;.	1.005635	0.13845	10.40	0.22042950492082761	0.00868	0.03477	0.08637	N	AEFI	0.029594	0.02822	N	-1.16151876924869	0.05593	0.2553732	-1.17722233976554	0.06292	0.3024018	1.19943082795914E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.58	-0.438	0.11656	-0.009000	0.12703	0.355000	0.17517	-0.113000	0.14837	0.656000	0.28225	0.983000	0.30585	0.047000	0.14932	0.5138:0.0:0.4862:0.0	5.079	0.13982	869	0.31655	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-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	1179.98	36	chr7	93462091	.	G	A	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e-01;DP=786;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=1.74;SOR=0.848	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1194,0,1199	20	0	1	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	0/1:73,30:120:50:50,0,1428	13	0	8	0
chr7	99359563	99359563	A	G	exonic	ARPC1A	.	nonsynonymous SNV	ARPC1A:NM_001190996:exon8:c.A766G:p.M256V	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.001	B	0.003	B	0.000	D	1.000	D	0.85	L	-0.1	T	-1.005	T	0.130	T	0.474	0.595	7.209	4.34	1.020	5.007	11.555	0.177	0.0159475740645	7.7e-05	.	6.607e-05	0.0002	0	0	0	9.012e-05	0	0	7.12e-05	11	154602	rs142247800	4.104e-05	4.104e-05	4.084e-05	4.125e-05	0.0002	3.244e-05	2.919e-05	2.999e-05	2.671e-05	8.962e-05	6.708e-05	3.826e-05	2.519e-05	1.872e-05	0.0002	3.957e-05	0	6.956e-05	5.914e-05	5.907e-05	3.857e-05	8.065e-05	0.0002	3.077e-05	2.21e-05	7.98e-06	2.99e-06	4.815e-05	0	6.545e-05	0.0003	0.0002	0	0	2.942e-05	0.0009	0	0.875	0.02575	T	0.396	0.15206	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.78	0.19475	N	-0.1	0.64264	T	-1.06	0.27669	N	0.568	0.59138	-1.0053	0.28368	T	0.130	0.44048	T	10	0.092172444	0.16209	T	0.015948	0.36960	T	0.177	0.44549	.	.	0.610248722441	0.60711	0.6280561746936144	0.62738	0.839975404743	0.68004	0.704100847244	0.67737	T	0.049083	0.28203	T	-0.207213	0.19773	T	-0.255989	0.49223	T	0.0976886376738548	0.12101	T	0.779622	0.41374	T	0.1542183	0.34918	0.13209197	0.31706	0.1542183	0.34918	0.13209197	0.31705	-8.269	0.62888	D	.	.	0.260	0.49431	B	.;.	.;.	2.524543	0.32625	19.10	0.59681499716653552	0.06282	0.96650	0.70212	D	AEFBI	0.658981	0.63006	D	-0.477479464924672	0.22821	1.221209	-0.261509346962093	0.29378	1.645396	0.032636154909239	0.14064	0.722319	0.85440	0	0.723133	0.82719	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.49	4.34	0.51267	4.997000	0.63662	6.239000	0.55277	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9299:0.0:0.0701:0.0	11.555	0.49995	444	0.79803	.;.	.	.	.	.	.	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	2150.15	38	chr7	99359563	.	A	G	2150.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.088;DP=901;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.835;SOR=0.596	GT:AD:DP:GQ:PL	0/1:72,78:150:99:2164,0,1972	20	0	1	0
chr7	99769805	99769805	G	A	exonic	CYP3A4	.	nonsynonymous SNV	CYP3A4:NM_001202855:exon6:c.C484T:p.R162W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.668	P	0.013	N	1.000	N	2.82	M	-0.41	T	-0.646	T	0.322	T	0.209	1.759	11.84	1.11	0.280	1.603	1.895	0.138	0.0262439418985	0.0005	0.00119808	0.0004	0.0039	0.0002	0	0	0	0	6.056e-05	0.0003234	50	154602	rs57409622	0.0001	0.0001	0.0002	0.0001	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0003	0	2.52e-05	0	0.0002	3.508e-05	0.0002	1.159e-05	0.0011	0.0011	0.0010	0.0011	0.0034	0.0009	0.0009	0.0029	0.0028	0.0034	0	0.0010	0	0	0	0	2.942e-05	0.0014	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.668	0.53048	P	0.012510	0.29149	N	0.401211	1	0.08975	N	2.635	0.77114	M	-0.41	0.69413	T	-4.22	0.75854	D	0.312	0.35194	-0.6465	0.62866	T	0.322	0.69099	T	10	0.0127954185	0.00274	T	0.026244	0.49171	D	0.138	0.37187	.	.	0.828290835507	0.82666	.	.	0.380211241712	0.39388	0.286329835653	0.08391	T	0.607388	0.87506	D	-0.418608	0.01746	T	-0.374086	0.36413	T	0.0789335258750783	0.09849	T	0.316168	0.06277	T	0.20815632	0.43043	0.24913208	0.50477	0.20815632	0.43043	0.24913208	0.50476	-8.399	0.63758	D	.	.	0.151	0.33504	B	.	.	2.927137	0.38873	20.8	0.99744688466878428	0.83778	0.06487	0.12497	N	AEFGBI	0.507117	0.53755	D	-0.145141427438287	0.35442	2.035782	-0.386046575491545	0.25413	1.397359	8.53346240493347E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.76	1.11	0.19640	1.552000	0.35852	-1.138000	0.06217	0.618000	0.50648	0.028000	0.20300	0.000000	0.08366	0.004000	0.06068	0.1271:0.1137:0.2469:0.5123	1.895	0.03058	132	0.94697	.	.	.	.	.	.	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	2938.98	33	chr7	99769805	.	G	A	2938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.56;MQRankSum=-8.400e-02;QD=11.62;ReadPosRankSum=0.818;SOR=0.700	GT:AD:DP:GQ:PL	0/1:131,122:253:99:2953,0,2929	20	0	1	0
chr7	100029881	100029881	C	G	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon4:c.C601G:p.P201A	.	.	424	1052	44	2	0	48	0.0223048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.99	D	0.824	P	0.004	N	1.000	D	0	N	3.14	T	-1.009	T	0.016	T	0.219	2.751	15.16	4.45	2.489	0.647	11.028	0.112	.	0.0059	0.00519169	0.0063	0.0009	0.0035	0	0.0011	0.0083	0.0077	0.0091	0.0062677	969	154602	rs148669042	0.0080	0.0080	0.0077	0.0083	0.0269	0.0079	0.0079	0.0234	0.0221	0.0011	0.0040	0.0220	5.038e-05	0.0011	0.0269	0.0082	0.0093	0.0121	0.0055	0.0055	0.0060	0.0050	0.0133	0.0052	0.0051	0.0107	0.0097	0.0012	0.0011	0.0038	0.0141	0.0002	0.0007	0.0442	0.0086	0.0076	0.0133	0.011	0.55530	D	0.145	0.35970	T	0.99	0.63424	D	0.824	0.59271	P	0.003763	0.34511	N	0.134244	0.93483	0.81001	D	2.14	0.59869	M	3.14	0.08194	T	-2.82	0.61129	D	0.386	0.42737	-1.0091	0.27198	T	0.016	0.06711	T	10	0.005372405	0.00118	T	.	.	.	0.112	0.31546	.	.	0.415459976574	0.41164	0.15639711510048188	0.15560	0.474146516114	0.46608	0.420085132122	0.27848	T	0.216012	0.57806	T	-0.535217	0.00358	T	-0.533617	0.18927	T	0.0379089392025617	0.03317	T	0.79512	0.43772	T	0.06449126	0.13687	0.07915261	0.17794	0.06449126	0.13687	0.07915261	0.17793	-7.57	0.58101	D	.	.	0.092	0.21315	B	.;.;.	.;.;.	3.067730	0.41219	21.3	0.99258197341911825	0.57121	0.63428	0.32086	D	AEFDBIJ	0.102707	0.20596	N	0.0266498543013345	0.43068	2.60718	0.00231240024793541	0.39823	2.367091	0.999999968925059	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.45	0.53365	0.767000	0.26238	2.758000	0.34584	0.599000	0.40250	0.244000	0.24789	1.000000	0.68203	0.043000	0.14563	0.0:0.9107:0.0:0.0893	11.028	0.46973	121	0.95159	.;.;.	.	.	.	.	rs148669042	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	1686.98	38	chr7	100029881	.	C	G	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.404;DP=808;ExcessHet=0.0000;FS=0.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=0.415;SOR=0.581	GT:AD:DP:GQ:PL	0/1:52,67:119:99:1701,0,1277	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|1:64,53:117:99:0|1:100175805_G_C:1345,0,1801:100175805	0	0	21	0
chr7	100220255	100220255	C	T	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon3:c.C260T:p.T87M,	.	.	419	1058	42	3	0	48	0.0221811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.423	B	0.131	B	.	.	1.000	N	0.345	N	0.86	T	-1.059	T	0.038	T	0.126	-0.065	3.683	-5.57	-1.950	-4.471	1.981	0.024	.	0.0056	0.00539137	0.0118	0.0024	0.0084	0	0.0065	0.0159	0.0040	0.0115	0.0050905	787	154602	rs141119008	0.0082	0.0081	0.0079	0.0085	0.0206	0.0081	0.0080	0.0174	0.0162	0.0012	0.0038	0.0220	5.337e-05	0.0012	0.0206	0.0084	0.0097	0.0126	0.0054	0.0054	0.0059	0.0048	0.0130	0.0051	0.0050	0.0105	0.0095	0.0011	0.0011	0.0033	0.0141	0.0002	0.0007	0.0408	0.0085	0.0071	0.0130	0.02	0.49613	D	0.072	0.43344	T	0.423	0.35444	B	0.131	0.32951	B	.	.	.	.	0.999992	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-1.6	0.38540	N	0.186	0.20262	-1.0587	0.12083	T	0.038	0.16376	T	9	0.0037819445	0.00071	T	.	.	.	0.024	0.04979	.	.	0.126345400529	0.12197	0.4692787638282187	0.46846	0.127832058936	0.14418	0.452407717705	0.32272	T	0.007966	0.07338	T	-0.617701	0.00114	T	-0.649673	0.08977	T	0.0105413282560264	0.00146	T	0.276672	0.04749	T	0.026393538	0.01691	0.061903115	0.12027	0.026393538	0.01691	0.061903115	0.12027	-6.774	0.52365	T	.	.	0.113	0.22318	B	.	.	-0.969443	0.00816	0.027	0.87147751602030721	0.17021	0.02800	0.07520	N	AEFDBCIJ	0.029109	0.02687	N	-1.63495431186654	0.01100	0.04775162	-1.77743499817207	0.00834	0.03725871	0.99999982209636	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	2.78	-5.57	0.02321	-4.778000	0.00217	-3.665000	0.02620	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.3123:0.3941:0.162:0.1317	1.981	0.03217	290	0.88477	.	.	.	.	.	rs141119008	Likely benign	0	0	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	1437.98	48	chr7	100220255	.	C	T	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.158e+00;DP=969;ExcessHet=0.0000;FS=0.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=0.260;SOR=0.812	GT:AD:DP:GQ:PL	0/1:33,57:90:99:1452,0,769	20	0	1	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.925	D	0.126	N	1.000	N	1.04	L	0.47	T	-0.965	T	0.211	T	0.357	2.943	15.81	2.0	0.487	-0.454	3.297	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	128.88	67	chr7	100416308	.	C	G	128.88	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.008e+00;DP=1836;ExcessHet=0.6776;FS=205.333;InbreedingCoeff=-0.1450;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.612;SOR=11.906	GT:AD:DP:GQ:PL	0/1:74,27:101:1:1,0,1401	14	0	4	3
chr7	100578739	100578739	C	T	exonic	LRCH4	.	nonsynonymous SNV	LRCH4:NM_001289934:exon5:c.G646A:p.V216I	.	.	415	1068	36	3	0	42	0.0192837	.	.	722191	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.005	B	0.015	B	0.005	N	1.000	D	-1.445	N	1.6	T	-1.010	T	0.013	T	0.052	0.214	5.153	0.518	-0.087	-0.266	8.271	0.016	.	0.0061	0.00539137	0.0065	0.0012	0.0045	0.0005	0.0011	0.0083	0.0067	0.0095	0.0065458	1012	154602	rs52833865	0.0082	0.0082	0.0079	0.0086	0.0183	0.0081	0.0081	0.0154	0.0144	0.0011	0.0046	0.0272	0.0005	0.0011	0.0183	0.0083	0.0101	0.0119	0.0056	0.0056	0.0061	0.0051	0.0112	0.0053	0.0052	0.0088	0.0079	0.0012	0	0.0045	0.0182	0.0008	0.0007	0.0240	0.0086	0.0071	0.0112	0.674	0.04508	T	0.97	0.02484	T	0.005	0.12996	B	0.015	0.17295	B	0.005035	0.33162	N	0.284157	1	0.81001	D	-1.16	0.00885	N	1.6	0.28604	T	-0.17	0.09627	N	0.174	0.18649	-1.0099	0.26949	T	0.013	0.05033	T	9	0.0044373274	0.00091	T	.	.	.	0.016	0.02506	.	.	0.192905019026	0.18896	0.4818438412615061	0.48104	0.508704530814	0.49020	0.35497829318	0.18653	T	0.032921	0.22695	T	-0.691137	0.00041	T	-0.756152	0.03253	T	0.00214425450445367	0.00022	T	0.80342	0.45053	T	0.010749503	0.00010	0.02109572	0.00173	0.010749503	0.00010	0.02109572	0.00173	-8.727	0.65923	D	.	.	0.069	0.03026	B	.	.	0.199449	0.05846	2.285	0.71578719883934938	0.09677	0.18084	0.20113	N	AEFBCI	0.073505	0.14704	N	-1.13517341753917	0.06028	0.2763963	-0.977898119563235	0.10282	0.5168703	0.98300840906797	0.30489	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.66	0.518	0.16228	-0.228000	0.09119	0.830000	0.21939	-0.873000	0.02525	0.000000	0.06391	0.943000	0.28828	0.864000	0.41028	0.0:0.6194:0.0:0.3806	8.271	0.31002	.	.	.	.	.	.	.	.	Likely benign	0	0	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	935.98	36	chr7	100578739	.	C	T	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e-01;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=-5.470e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:20,34:54:99:950,0,489	20	0	1	0
chr7	100586662	100586662	C	T	exonic	FBXO24	.	nonsynonymous SNV	FBXO24:NM_033506:exon1:c.C37T:p.R13W,	.	.	419	1101	2	0	0	2	0.000907441	0.0378	0.188	2317117	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.005	B	0.002	B	0.087	U	1.000	N	0	N	2.23	T	-1.060	T	0.054	T	0.354	3.278	17.00	0.881	0.462	0.235	4.528	0.056	0.00972046601535	0.0002	0.000199681	9.916e-05	0.0006	8.658e-05	0	0	4.505e-05	0	0.0001	9.7e-05	15	154602	rs116312858	6.909e-05	6.909e-05	8.032e-05	5.775e-05	0.0009	5.78e-05	5.391e-05	0.0004	0.0003	0.0006	0.0002	3.826e-05	2.519e-05	0	0.0009	4.497e-05	8.279e-05	0.0001	0.0002	0.0002	0.0002	8.055e-05	0.0005	0.0001	9.232e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	1.47e-05	0.0005	0	0.0	0.91255	D	0.002	0.79402	D	0.003	0.12996	B	0.001	0.06944	B	0.087318	0.20540	U	0.251955	0.81752	0.28924	N	0.345	0.11182	N	2.23	0.52867	T	0.59	0.23590	N	0.174	0.38541	-1.0604	0.11656	T	0.054	0.22959	T	10	0.0346255	0.01678	T	0.00972	0.25381	T	0.056	0.15993	.	.	0.63994544947	0.63697	.	.	.	.	.	.	.	0.014133	0.12091	T	-0.259336	0.12978	T	-0.256261	0.49196	T	0.0964987119763146	0.11967	T	0.674733	0.28305	T	0.18366118	0.39645	0.109796554	0.26466	0.18366118	0.39645	0.109796554	0.26466	-6.174	0.47898	T	.	.	0.280	0.54190	B	.;.	.;.	4.188335	0.63110	24.5	0.99850254181312281	0.92925	0.78472	0.38720	D	ALL	0.393167	0.47092	N	-0.598692380621512	0.18984	0.9900635	-0.468423077683545	0.23029	1.253782	0.999999999998845	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.14	0.881	0.18301	0.047000	0.13941	-0.897000	0.07005	-0.314000	0.05961	0.986000	0.36153	0.000000	0.08366	0.972000	0.54974	0.4022:0.4867:0.0:0.1111	4.528	0.11397	.	.	.;.	.	.	.	.	.	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	920.98	34	chr7	100586662	.	C	T	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=768;ExcessHet=0.0000;FS=3.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-2.451e+00;SOR=0.418	GT:AD:DP:GQ:PL	0/1:41,36:77:99:935,0,885	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|2:0,0,107:107:99:1|1:100773849_CCAT_C:4734,4734,4734,322,322,0:100773849	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|1:0,108,0:108:99:1|1:100773849_CCAT_C:4760,325,0,4760,325,4760:100773849	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|1:397,162,68:627:99:0|1:100952942_T_G:5607,0,16182,3947,13815,20412:100952942	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|1:619,103,0:722:99:0|1:100953014_G_A:2462,0,25682,4325,25992,30317:100953014	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|1:672,80:752:99:0|1:100953014_G_A:1336,0,27976:100953014	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|1:674,61:735:99:0|1:100953014_G_A:533,0,28118:100953014	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|2:385,65,118:568:99:0|1:100953112_T_A:3796,2225,18196,0,13437,15811:100953112	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	0/1:388,112,55:557:99:3535,0,15955,2393,13983,18520	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	0/1:394,189,0:667:99:.:.:6750,0,15975,7936,16544,24480	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|1:777,148,111:1036:99:0|1:100953486_C_A:3845,0,32155,1528,27942,33836:100953486	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	0/2:842,77,111:1030:99:.:.:2092,1428,36199,0,31857,35427	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	0/2:847,106,127:1080:99:.:.:2783,882,36128,0,31114,35183	3	0	15	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V,	.	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	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	0.05	3166.8	908	chr7	100953580	.	T	G	3166.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.028e+00;DP=19164;ExcessHet=0.1072;FS=3.283;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=55.84;MQRankSum=1.36;QD=1.45;ReadPosRankSum=3.77;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:981,119:1100:99:0|1:100953515_C_T:2044,0,40834:100953515	18	0	2	1
chr7	100954873	100954873	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3094A:p.A1032T,	.	.	771	738	8	5	0	18	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410727845	0.0001	0.0027	0.0001	0.0001	0.0007	0.0001	8.922e-05	0.0004	0.0003	0	0	0	0	0.0001	0	0.0001	0.0002	0.0007	0.0006	0.0093	0.0005	0.0008	0.0016	0.0005	0.0004	0.0006	0.0005	0.0005	0	0.0013	0.0008	0.0016	0.0005	0	0.0004	0.0013	0.0010	.	.	.	0.727	0.05238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.038853675	0.02333	T	.	.	.	.	.	.	.	.	.	0.013919596383098391	0.01348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-4.693	0.33319	T	.	.	0.093	0.14015	B	.;.	.;.	-0.940757	0.00860	0.030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.046000	0.03635	-3.144000	0.03024	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1541.07	411	chr7	100954873	.	G	A	1541.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.28;DP=9000;ExcessHet=0.1072;FS=11.692;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=58.47;MQRankSum=-1.038e+01;QD=1.77;ReadPosRankSum=-1.165e+00;SOR=1.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:430,43:473:99:0|1:100954850_G_C:511,0,17926:100954850	14	0	2	5
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:635,67,0:702:99:0|1:100954953_T_A:902,0,26462,2813,26664,29477:100954953	6	0	14	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	250.36	306	chr7	100955170	.	G	T,*	250.36	.	AC=3,4;AF=0.075,0.100;AN=40;BaseQRankSum=0.637;DP=7032;ExcessHet=2.5830;FS=10.762;InbreedingCoeff=-0.2103;MLEAC=2,4;MLEAF=0.050,0.100;MQ=58.89;MQRankSum=-1.674e+01;QD=0.10;ReadPosRankSum=-9.590e-01;SOR=1.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:357,31,0:388:99:.:.:227,0,14897,1302,14990,16292	13	0	3	1
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|2:384,0,44:428:99:0|1:100955504_G_A:692,1848,17972,0,16124,15992:100955504	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|2:384,0,44:428:99:0|1:100955504_G_A:692,1848,17972,0,16124,15992:100955504	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:807,158,0:965:99:.:.:2469,0,33424,4117,33853,37698	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:671,111,0:782:99:0|1:100955895_T_A:2641,0,27841,4661,28175,32836:100955895	4	0	15	0
chr7	100958481	100958481	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C6702A:p.H2234Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.216e-07	6.095e-06	0	1.799e-06	1.275e-06	0	0	.	.	0	0	0	0	0	0	1.275e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.25438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04790	.	.	.	.	.	.	.	0.09720075	0.17489	T	.	.	.	.	.	.	.	.	.	0.004326101621475962	0.00406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243776	0.03556	T	.	.	.	.	.	.	.	.	-7.225	0.55660	T	.	.	0.271	0.50527	B	.;.	.;.	1.445929	0.18663	13.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.464000	0.06765	-20.000000	0.00162	0.313000	0.19204	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	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	31.98	205	chr7	100958481	.	C	A	31.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.321e+00;DP=29526;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.83;MQRankSum=-4.051e+00;QD=0.14;ReadPosRankSum=-2.660e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,17:231:46:0|1:100958481_C_A:46,0,8590:100958481	20	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,247,0:618:99:0|1:100960582_T_A:7722,0,14844,7461,15542,22653:100960582	0	0	15	0
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A,	.	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	1.000	N	0	N	2.51	T	-0.955	T	0.009	T	0.059	-1.867	0.008	-0.261	-1.311	-0.634	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	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	7175.11	67	chr7	101004493	.	C	G	7175.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.03;DP=1739;ExcessHet=0.1072;FS=5.133;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.35;MQRankSum=1.33;QD=12.70;ReadPosRankSum=1.10;SOR=0.449	GT:AD:DP:GQ:PL	0/1:147,121:268:99:3073,0,3784	19	0	2	0
chr7	101004695	101004695	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C14132G:p.S4711C,	.	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	0	N	2.64	T	-0.973	T	0.013	T	0.117	-0.710	0.940	0.294	0.413	0.013	6.492	0.039	.	0.0039	0.00199681	0.0034	0.0014	0.0026	0	0.0118	0.0042	0.0212	0.0008	0.001009	156	154602	rs76020410	0.0036	0.0034	0.0037	0.0035	0.0044	0.0035	0.0035	0.0038	0.0037	0.0003	0.0021	0.0015	2.798e-05	0.0114	0.0044	0.0039	0.0028	0.0012	0.0035	0.0035	0.0031	0.0040	0.0044	0.0033	0.0032	0.0040	0.0038	0.0006	0	0.0016	0.0006	0	0.0160	0	0.0044	0.0062	0.0008	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.905	0.50856	L	2.64	0.12780	T	-1.21	0.35991	N	0.124	0.14480	-0.9729	0.36583	T	0.013	0.05273	T	7	0.005148381	0.00112	T	.	.	.	0.039	0.10176	.	.	0.0482279557977	0.04254	0.005244478138799523	0.00495	.	.	0.544150948524	0.45032	T	0.007051	0.06470	T	-0.612515	0.00122	T	-0.651658	0.08838	T	0.0199920691354407	0.00700	T	0.233577	0.03193	T	0.1035632	0.24479	0.11021468	0.26572	0.1035632	0.24479	0.11021468	0.26572	-11.169	0.80577	D	.	.	0.285	0.55053	B	.;.	.;.	1.159056	0.15475	11.88	0.29814861524444408	0.01600	0.00691	0.02950	N	AEFDBI	0.036496	0.04872	N	-0.845497523419425	0.12160	0.5910899	-1.03523553234501	0.09017	0.4463251	2.01061989582173E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.294	0.294	0.14997	0.500000	0.22270	1.748000	0.28453	0.228000	0.18124	0.241000	0.24758	0.006000	0.19429	0.006000	0.07323	0.0:0.9998:0.0:2.0E-4	6.492	0.21317	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	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	3656.98	227	chr7	101004695	.	C	G	3656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.820e-01;DP=4301;ExcessHet=0.0000;FS=2.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-7.010e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/1:135,128:263:99:3671,0,3981	20	0	1	0
chr7	101039191	101039191	G	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G7775A:p.S2592N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.008	B	0.003	B	.	.	1.000	N	0.895	L	4.23	T	-0.900	T	0.007	T	0.02	-0.931	0.377	-0.538	-0.184	-3.509	6.195	0.011	0.00108012292015	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs763523521	4.106e-06	4.104e-06	4.085e-06	4.127e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	1.656e-05	0	6.574e-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	0.604	0.05567	T	.	.	.	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.485	0.37223	L	4.23	0.02616	T	-0.46	0.14978	N	0.027	0.00571	-0.8999	0.48003	T	0.007	0.02282	T	9	0.044188738	0.03349	T	0.00108	0.01263	T	0.011	0.01250	0.138	0.04187	0.0138822411134	0.00435	2.760679278859399E-4	0.00024	.	.	0.315702915192	0.12770	T	0.017389	0.14198	T	-0.44435	0.01219	T	-0.876055	0.00688	T	0.0451930250043258	0.04637	T	0.350365	0.07800	T	0.029313276	0.02406	0.046650846	0.06548	0.029313276	0.02405	0.046650846	0.06548	-6.845	0.52893	T	.	.	0.138	0.30049	B	.	.	-0.687639	0.01350	0.075	0.22228500098026707	0.00884	0.00207	0.01180	N	AEFBI	0.050295	0.08777	N	-1.3810756620859	0.02815	0.1248704	-1.50144186270384	0.02333	0.10716	9.76260641502424E-5	0.04910	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.673	-0.538	0.11275	-2.029000	0.01518	-10.218000	0.00726	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3192:0.6808:0.0	6.195	0.19759	835	0.38313	.	.	.	.	.	.	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	10586.98	42	chr7	101039191	.	G	A	10586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.079e+00;DP=6322;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-1.325e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/1:385,386:771:99:10601,0,10240	20	0	1	0
chr7	102934571	102934571	T	A	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.T658A:p.L220M	.	.	430	1060	30	2	0	34	0.0157846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.343	B	0.189	B	0.627	N	1.000	N	0.69	N	0.09	T	-0.987	T	0.091	T	0.295	2.055	12.83	-8.74	-1.287	-1.047	14.132	0.073	0.0205330549804	0.0046	0.00139776	0.0047	0.0021	0.0042	0	0.0044	0.0063	0.0089	0.0023	0.0044178	683	154602	rs36040681	0.0040	0.0040	0.0039	0.0041	0.0210	0.0039	0.0039	0.0179	0.0168	0.0019	0.0050	0.0265	0	0.0031	0.0210	0.0036	0.0071	0.0021	0.0043	0.0043	0.0043	0.0043	0.0049	0.0040	0.0039	0.0040	0.0038	0.0023	0.0022	0.0049	0.0317	0.0002	0.0036	0.0102	0.0043	0.0080	0.0027	0.032	0.46129	D	0.05	0.48080	T	0.257	0.33512	B	0.143	0.36295	B	0.627179	0.10722	N	0.753644	1	0.08975	N	1.79	0.46772	L	0.09	0.63911	T	-0.31	0.12099	N	0.291	0.32921	-0.9874	0.33249	T	0.091	0.34847	T	10	0.0042235553	0.00084	T	0.020533	0.43144	T	0.073	0.21317	.	.	0.353974658523	0.35008	0.2819359309231691	0.28106	0.331437822524	0.35218	0.276401311159	0.06996	T	0.033263	0.22839	T	-0.46394	0.00929	T	-0.429799	0.29957	T	0.0145937820321721	0.00300	T	0.613939	0.24114	T	0.089716	0.20969	0.06520197	0.13181	0.089716	0.20969	0.06520197	0.13181	-4.612	0.32322	T	.	.	0.074	0.08129	B	.;.	.;.	0.376272	0.07484	4.124	0.95126299566557715	0.26230	0.04616	0.10276	N	AEFDBI	0.164558	0.29096	N	-1.24876555415695	0.04316	0.1945527	-1.3501848080759	0.03804	0.1781696	0.999999995568789	0.74766	0.643511	0.44296	0	0.59043	0.45803	0	0.640751	0.46059	0	0.631631	0.49550	0	.	.	5.28	-8.74	0.00725	-1.001000	0.03800	-4.773000	0.01992	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.932000	0.46971	0.0:0.6661:0.167:0.1669	14.132	0.64796	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	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	3653.11	41	chr7	102934571	.	T	A	3653.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.516;DP=1042;ExcessHet=0.1072;FS=4.591;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.216;SOR=0.600	GT:AD:DP:GQ:PL	0/1:89,62:151:99:1595,0,2419	19	0	2	0
chr7	106017935	106017935	C	T	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon11:c.C1252T:p.L418F	.	.	428	1081	13	0	0	13	0.00597701	.	.	1284223	not_provided|Susceptibility_to_nonsyndromic_otitis_media	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.884	P	0.622	P	0.274	N	1.000	N	2.115	M	-1.66	D	-0.568	T	0.431	T	0.141	2.427	14.07	-1.88	-0.226	-0.162	1.712	0.408	.	0.0045	0.00359425	0.0062	0.0021	0.0071	0	0.0032	0.0088	0.0129	0.0016	0.0045666	706	154602	rs76067797	0.0049	0.0049	0.0049	0.0049	0.0177	0.0048	0.0047	0.0149	0.0139	0.0019	0.0050	0.0066	7.56e-05	0.0031	0.0177	0.0053	0.0056	0.0022	0.0042	0.0042	0.0044	0.0039	0.0061	0.0039	0.0038	0.0057	0.0055	0.0014	0	0.0044	0.0046	0.0002	0.0040	0.0204	0.0061	0.0090	0.0008	0.044	0.44029	D	0.051	0.47828	T	0.884	0.48618	P	0.622	0.51475	P	0.273709	0.03788	N	1.539750	1	0.08975	N	1.7	0.43825	L	-1.66	0.82715	D	-1.04	0.27876	N	0.071	0.04426	-0.5679	0.66099	T	0.431	0.77284	T	10	0.004099518	0.00080	T	.	.	.	0.408	0.72022	.	.	0.624018827985	0.62096	0.08811006681072454	0.08744	0.0395402123316	0.04217	0.210277408361	0.00823	T	0.003737	0.13282	T	-0.421169	0.01681	T	-0.375284	0.36272	T	0.0159610453110415	0.00379	T	0.508249	0.16760	T	0.0897766	0.20988	0.082048506	0.18695	0.0897766	0.20988	0.082048506	0.18694	-5.089	0.37791	T	.	.	0.073	0.05756	B	.;.	.;.	1.581865	0.20241	14.66	0.99604673751152728	0.74397	0.07323	0.13344	N	AEFDBHCIJ	0.063896	0.12377	N	-0.332726579874717	0.27912	1.535229	-0.515309838379762	0.21738	1.177336	0.999999985873122	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.48	-1.88	0.07294	-0.149000	0.10189	0.256000	0.16486	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.969000	0.54022	0.3165:0.3288:0.2086:0.1462	1.712	0.02718	925	0.17918	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1729.98	33	chr7	106017935	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=869;ExcessHet=0.0000;FS=1.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=0.740;SOR=0.894	GT:AD:DP:GQ:PL	0/1:100,75:175:99:1744,0,2546	20	0	1	0
chr7	106020483	106020483	C	G	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon12:c.C1500G:p.F500L	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.991	D	0.835	P	0.001	N	1.000	D	1.69	L	1.33	T	-0.571	T	0.325	T	0.614	4.468	23.9	5.55	2.615	2.857	17.683	0.120	0.0423996171744	.	.	8.283e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs773342080	6.841e-07	6.84e-07	0	1.375e-06	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.326	0.13306	T	0.012	0.63918	D	0.991	0.64070	D	0.835	0.59863	P	0.001017	0.40652	N	0.222301	0.993537	0.81001	D	2.5	0.72771	M	0.45	0.56446	T	-1.78	0.42001	N	0.818	0.81360	-0.5706	0.65990	T	0.325	0.69376	T	10	0.6794839	0.71192	D	0.042	0.60441	D	0.120	0.33359	0.455	0.51938	0.486707162081	0.48303	0.34978456455975254	0.34892	0.2742638541	0.29923	0.58991932869	0.51483	T	0.044961	0.33978	T	-0.0581273	0.43199	T	-0.238407	0.50954	T	0.901796936988831	0.55460	D	0.744226	0.36418	T	0.19554092	0.41347	0.17380625	0.39733	0.19554092	0.41347	0.17380625	0.39732	-5.623	0.43002	T	.	.	0.901	0.82843	P	.;.	.;.	4.258191	0.64686	24.7	0.99838632699138452	0.91972	0.93461	0.58279	D	AEFBI	0.559868	0.56851	D	0.349681380415187	0.58724	4.046355	0.427940633940238	0.63312	4.562441	0.999999999534022	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.55	5.55	0.83298	2.916000	0.48511	4.016000	0.41206	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	17.683	0.88154	916	0.20744	.;.	.	.	.	.	.	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	2360.98	35	chr7	106020483	.	C	G	2360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=906;ExcessHet=0.0000;FS=3.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-1.234e+00;SOR=0.705	GT:AD:DP:GQ:PL	0/1:117,93:210:99:2375,0,2921	20	0	1	0
chr7	108095332	108095332	C	T	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon12:c.G1366A:p.D456N	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.002	B	0.034	N	0.997	N	0.03	N	0.11	T	-1.023	T	0.062	T	0.036	1.408	10.64	-4.93	-1.026	-0.538	7.473	0.077	0.00618760759927	.	.	1.7e-05	0	0	0	0	3.077e-05	0	0	1.29e-05	2	154602	rs754838790	2.125e-05	2.326e-05	1.637e-05	2.617e-05	2.52e-05	1.523e-05	1.327e-05	1.38e-05	1.153e-05	0	2.236e-05	0.0001	2.52e-05	0	0	2.073e-05	3.316e-05	1.161e-05	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	0.903	0.06204	T	1.0	0.07150	T	0.001	0.07471	B	0.002	0.06944	B	0.034079	0.24817	N	0.337088	0.996661	0.22942	N	-0.585	0.02270	N	0.11	0.61208	T	1.08	0.01595	N	0.048	0.03613	-1.0233	0.22638	T	0.062	0.25923	T	10	0.0283041	0.00964	T	0.006188	0.16229	T	0.077	0.22490	0.61	0.74300	0.0297737177859	0.01360	0.40406696655756613	0.40322	0.0625614042726	0.06963	0.232387810946	0.02150	T	0.045294	0.27077	T	-0.364864	0.03863	T	-0.631428	0.10307	T	0.0295007366988017	0.01913	T	0.633137	0.34984	T	0.042776063	0.06550	0.04172797	0.04809	0.042776063	0.06550	0.04172797	0.04809	-4.798	0.34568	T	.	.	0.059	0.01059	B	.;.;.	.;.;.	-0.112445	0.03568	0.690	0.82689351425872326	0.14323	0.00439	0.02144	N	AEFDBHCIJ	0.033549	0.04004	N	-1.38572197392753	0.02771	0.1228406	-1.36172784030514	0.03670	0.1716516	0.999996806821361	0.74766	0.428477	0.06694	0	0.48864	0.07623	0	0.547309	0.15389	0	0.648885	0.59868	0	.	.	4.79	-4.93	0.02839	-0.525000	0.06302	-2.553000	0.03616	-0.177000	0.10537	0.043000	0.21118	0.000000	0.08366	0.984000	0.60418	0.1145:0.44:0.0:0.4455	7.473	0.26531	700	0.57880	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	887.98	33	chr7	108095332	.	C	T	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=3.64;SOR=0.773	GT:AD:DP:GQ:PL	0/1:39,35:74:99:902,0,944	20	0	1	0
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	0/1:21,31,0:52:99:1197,0,788,1260,882,2142	13	1	6	0
chr7	128801491	128801491	G	C	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_001367766:exon4:c.G652C:p.D218H	.	.	430	1075	17	0	0	17	0.00784495	.	.	722297	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.017	N	1.000	D	2.045	M	1.25	T	-0.659	T	0.154	T	0.428	4.878	28.0	5.24	2.469	3.284	14.327	0.145	.	0.0061	0.0175719	0.0086	0.0187	0.0010	0.0180	0	0.0006	0.0083	0.0434	0.0065911	1019	154602	rs3816887	0.0042	0.0042	0.0035	0.0049	0.0450	0.0041	0.0041	0.0432	0.0425	0.0184	0.0011	0	0.0450	0	0.0047	0.0006	0.0058	0.0316	0.0073	0.0073	0.0070	0.0075	0.0307	0.0069	0.0068	0.0267	0.0252	0.0176	0	0.0023	0	0.0256	0	0.0034	0.0006	0.0076	0.0307	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.016592	0.27938	N	0.378359	0.991609	0.81001	D	2.25	0.63811	M	0.65	0.52642	T	-3.74	0.71042	D	0.313	0.41360	-0.6589	0.62324	T	0.154	0.48498	T	10	0.0025648475	0.00039	T	.	.	.	0.207	0.49555	.	.	0.696379046619	0.69376	0.3067353743971076	0.30586	0.496329302789	0.48146	0.486578851938	0.36964	T	0.208313	0.56821	T	-0.389463	0.02712	T	-0.273861	0.47429	T	0.0338218511450709	0.02608	T	0.859714	0.55187	D	0.23389378	0.46201	0.2656385	0.52399	0.23389378	0.46201	0.2656385	0.52398	-5.717	0.43845	T	.	.	0.187	0.63400	B	.;.;.	.;.;.	4.352545	0.66859	25.0	0.99605062895104857	0.74456	0.94620	0.61762	D	AEFBI	0.179148	0.30643	N	0.299725175590207	0.56136	3.777826	0.331342929804048	0.57388	3.904544	0.999485182318206	0.39952	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.24	5.24	0.72863	2.469000	0.44768	8.480000	0.77297	0.656000	0.54149	0.757000	0.29209	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	14.327	0.66086	682	0.59757	.;.;.	.	.	.	.	.	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	1119.98	33	chr7	128801491	.	G	C	1119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=774;ExcessHet=0.0000;FS=7.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.519;SOR=1.559	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1134,0,1187	20	0	1	0
chr7	128814812	128814812	G	A	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon15:c.G2938A:p.G980R	.	.	422	1082	17	1	0	19	0.00870362	.	.	722299	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.998	D	0.965	D	0.080	N	1.000	N	1.955	M	1.21	T	-1.083	T	0.060	T	0.221	4.233	22.0	2.7	0.900	1.819	6.432	0.062	.	0.0061	0.0175719	0.0090	0.0197	0.0011	0.0193	0	0.0006	0.0083	0.0392	0.0066623	1030	154602	rs61730174	0.0042	0.0042	0.0035	0.0049	0.0452	0.0041	0.0041	0.0435	0.0428	0.0184	0.0011	0	0.0452	0	0.0047	0.0006	0.0058	0.0317	0.0072	0.0073	0.0070	0.0075	0.0309	0.0069	0.0067	0.0268	0.0253	0.0174	0	0.0022	0	0.0262	0	0.0034	0.0006	0.0076	0.0309	0.0	0.91255	D	0.142	0.33330	T	0.964	0.55854	D	0.815	0.58847	P	0.080158	0.20942	N	0.452827	1	0.08975	N	1.985	0.53793	M	1.21	0.37230	T	-2.13	0.48354	N	0.233	0.26233	-1.0832	0.06739	T	0.060	0.24945	T	10	0.0051091015	0.00111	T	.	.	.	0.062	0.17934	0.211	0.12923	0.404870348458	0.40103	0.08580872038638879	0.08514	0.444185373145	0.44332	0.496919095516	0.38398	T	0.038966	0.25026	T	-0.50508	0.00535	T	-0.439937	0.28815	T	0.0251534494830934	0.01293	T	0.773423	0.40508	T	0.26113153	0.49171	0.2761146	0.53554	0.26113153	0.49171	0.2761146	0.53553	-3.166	0.12070	T	.	.	0.358	0.57091	A	.	.	3.390886	0.46947	22.4	0.99875371713305283	0.95244	0.12477	0.17293	N	AEFBIJ	0.068515	0.13520	N	0.00958660321674754	0.42290	2.545313	-0.143344922568454	0.33665	1.928128	0.882952491301515	0.25663	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	5.64	2.7	0.31007	2.197000	0.42329	3.990000	0.40980	0.662000	0.56354	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0844:0.0:0.5945:0.3211	6.432	0.21007	679	0.60090	.	.	.	.	.	.	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	1149.98	34	chr7	128814812	.	G	A	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.440e-01;DP=787;ExcessHet=0.0000;FS=0.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=1.32;SOR=0.562	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1164,0,744	20	0	1	0
chr7	128842905	128842905	C	T	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon16:c.C2501T:p.T834M	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	YES	0	1496	24	2	0	28	0.00927152	.	.	134529	Cardiomyopathy|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.367	B	0.177	B	0.000	D	1.000	D	1.375	L	-3.09	D	0.082	D	0.493	T	0.32	3.159	16.57	5.7	2.688	3.219	19.847	0.447	.	0.0012	0.0239617	0.0090	0.0005	0.0012	0.0179	0	0.0012	0.0056	0.0498	0.0084281	1303	154602	rs75133741	0.0050	0.0050	0.0038	0.0063	0.0493	0.0049	0.0049	0.0480	0.0475	0.0005	0.0007	0	0.0189	3.757e-05	0.0016	0.0017	0.0062	0.0493	0.0034	0.0034	0.0022	0.0046	0.0561	0.0031	0.0030	0.0506	0.0485	0.0003	0	0.0015	0	0.0203	0	0	0.0015	0.0014	0.0561	0.135	0.27663	T	0.125	0.35455	T	0.249	0.34030	B	0.044	0.35687	B	0.000001	0.84330	D	0.053555	0.999646	0.48019	D	2.21	0.62235	M	-3.09	0.93170	D	-3.02	0.64593	D	0.438	0.49420	0.082	0.83849	D	0.493	0.80757	T	10	0.010443568	0.00232	T	.	.	.	0.447	0.74866	.	.	0.474368926326	0.47065	0.3821749051926247	0.38132	0.432603500595	0.43432	0.613334536552	0.54787	T	0.745869	0.92998	D	-0.265909	0.12217	T	-0.11823	0.61948	T	0.0407364212241147	0.03823	T	0.918008	0.70480	D	0.08972675	0.20975	0.12818894	0.30844	0.09558347	0.22497	0.13841659	0.33057	-3.932	0.22783	T	0.2128994219855428	0.28577	0.065	0.02609	B	.;.	.;.	3.668437	0.52151	23.2	0.99082601232310663	0.52002	0.90739	0.52170	D	AEFDBHCI	0.358683	0.44928	N	0.130846518323266	0.47906	3.009856	0.276113382339496	0.54148	3.580719	0.999999999999857	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.691665	0.62940	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.671000	0.46507	5.995000	0.52393	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.464000	0.28207	0.0:1.0:0.0:0.0	19.847	0.96710	608	0.67185	.;.	.	.	.	.	.	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	2111.98	35	chr7	128842905	.	C	T	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.270e-01;DP=911;ExcessHet=0.0000;FS=13.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.403;SOR=0.922	GT:AD:DP:GQ:PL	0/1:105,89:194:99:2126,0,2597	20	0	1	0
chr7	128891726	128891726	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon17:c.C1715T:p.A572V	.	.	394	1112	15	1	0	17	0.0075859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0113818	0.0044	0	0	0	0	0.0005	0	0.0764	0.0010996	170	154602	rs372463038	0.0023	0.0022	0.0014	0.0031	0.0399	0.0022	0.0022	0.0386	0.0381	0.0004	0.0006	0.0004	5.856e-05	4.599e-05	0.0006	0.0002	0.0032	0.0399	0.0014	0.0015	0.0007	0.0022	0.0386	0.0013	0.0012	0.0341	0.0323	0.0003	0	0.0003	0.0009	0.0004	9.418e-05	0	0.0002	0	0.0386	.	.	.	0.96	0.02548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0020279884	0.00029	T	.	.	.	.	.	.	.	0.188950314367	0.18478	0.07746613131127543	0.07682	.	.	0.386530011892	0.23179	T	0.001831	0.13584	T	-0.412221	0.01921	T	-0.330595	0.41403	T	.	.	.	0.609039	0.26417	T	0.028721679	0.02252	0.12166932	0.29356	0.028721679	0.02252	0.12166932	0.29355	-5.772	0.44330	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.089865	0.14734	11.28	0.85936422183728112	0.16207	0.03648	0.08900	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.990920462793359	0.32314	0.206829	0.04106	0	0.096583	0.02683	0	0.209056	0.04548	0	0.109499	0.03221	0	0.0549606	0.12632	4.96	1.09	0.19517	0.538000	0.22869	4.418000	0.43305	-0.712000	0.03928	0.001000	0.13787	1.000000	0.68203	0.318000	0.24924	0.4436:0.0:0.5564:0.0	7.155	0.24808	545	0.72614	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1239.98	33	chr7	128891726	.	G	A	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.460e+00;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=1.34;SOR=0.654	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1254,0,960	20	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V	.	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	36	chr7	128893261	.	G	A	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.452;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-4.230e-01;SOR=0.758	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1388,0,1227	20	0	1	0
chr7	129451613	129451613	T	C	exonic	STRIP2	.	nonsynonymous SNV	STRIP2:NM_001134336:exon4:c.T275C:p.V92A	.	.	430	1084	7	1	0	9	0.00413413	0.0002	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.013	B	0.012	N	0.994	D	1.6	L	0.94	T	-1.066	T	0.088	T	0.421	0.533	6.887	3.27	0.662	3.396	9.579	0.079	0.015892376828	.	0.000399361	0.0006	0.0002	8.639e-05	0	0	0	0	0.0043	0.0004916	76	154602	rs570968068	0.0002	0.0002	0.0001	0.0004	0.0040	0.0002	0.0002	0.0037	0.0036	2.987e-05	0	0	0	0	0.0002	0	0.0002	0.0040	0.0001	0.0001	6.427e-05	0.0002	0.0035	7.574e-05	6.279e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	0	0	0.0035	0.518	0.07307	T	0.614	0.07592	T	0.001	0.14184	B	0.002	0.16460	B	0.012451	0.29170	N	0.316635	0.994143	0.42177	D	1.63	0.41750	L	0.94	0.43672	T	-0.45	0.14782	N	0.235	0.26475	-1.0655	0.10432	T	0.088	0.34105	T	9	0.005226195	0.00114	T	0.015892	0.36869	T	0.079	0.23065	.	.	0.225215365344	0.22153	0.18236902444862638	0.18155	0.277347193824	0.30209	0.478532910347	0.35855	T	0.008538	0.07834	T	-0.45088	0.01116	T	-0.420715	0.30994	T	0.0173584750814703	0.00475	T	0.615438	0.23533	T	0.04957262	0.08822	0.042647082	0.05128	0.04957262	0.08822	0.042647082	0.05127	-2.616	0.06829	T	.	.	0.134	0.36966	B	.;.	.;.	2.914601	0.38671	20.8	0.89308535858219351	0.18686	0.79548	0.39439	D	AEFBI	0.114472	0.22546	N	-0.219188378457949	0.32347	1.823248	-0.117446591172619	0.34686	1.998083	0.627915658182146	0.21942	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.45	3.27	0.36580	2.164000	0.42013	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.1773:0.8227	9.579	0.38644	763	0.50172	Far11/STRP, N-terminal|Far11/STRP, N-terminal;.	.	.	.	.	.	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	1891.98	37	chr7	129451613	.	T	C	1891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.53;DP=860;ExcessHet=0.0000;FS=6.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-2.492e+00;SOR=1.192	GT:AD:DP:GQ:PL	0/1:69,72:141:99:1906,0,1576	20	0	1	0
chr7	134538258	134538258	G	A	exonic	AKR1B10	.	nonsynonymous SNV	AKR1B10:NM_020299:exon8:c.G806A:p.R269H,	.	.	418	1090	14	0	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.02	B	0.022	B	0.000	N	1.000	D	1.925	M	1.9	T	-1.077	T	0.064	T	0.299	2.666	14.87	2.69	0.452	3.118	10.177	0.081	0.0132954678695	0.0013	0.000798722	0.0027	0.0011	0.0020	0	0	0.0021	0.0077	0.0087	0.0023609	365	154602	rs146556418	0.0024	0.0024	0.0021	0.0027	0.0089	0.0023	0.0023	0.0084	0.0081	0.0023	0.0021	7.653e-05	0.0002	5.616e-05	0.0071	0.0021	0.0027	0.0089	0.0019	0.0020	0.0018	0.0021	0.0085	0.0018	0.0017	0.0064	0.0057	0.0020	0	0.0027	0	0.0004	9.423e-05	0.0034	0.0017	0.0038	0.0085	0.051	0.39334	T	0.094	0.39645	T	0.02	0.18235	B	0.022	0.19653	B	0.000002	0.62929	N	0.104408	0.999985	0.54805	D	1.275	0.32135	L	1.9	0.23486	T	-3.81	0.71882	D	0.392	0.43320	-1.0772	0.07901	T	0.064	0.26562	T	10	0.012001812	0.00260	T	0.013295	0.32578	T	0.081	0.23632	.	.	0.290590437066	0.28656	0.7265906804854775	0.72603	0.0417484063962	0.04490	0.27160820365	0.06352	T	0.209792	0.57010	T	-0.514587	0.00473	T	-0.505264	0.21803	T	0.0466400836865233	0.04900	T	0.743426	0.36288	T	0.41403872	0.61692	0.18016008	0.40797	0.41403872	0.61693	0.18016008	0.40796	-8.055	0.61445	D	.	.	0.430	0.61171	A	.	.	2.242027	0.28630	17.86	0.9882154788464238	0.46786	0.85467	0.44602	D	AEFBHCI	0.604892	0.59581	D	-0.393098212925703	0.25713	1.397952	-0.381319867669791	0.25555	1.406028	0.999999953660407	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.53	2.69	0.30923	2.718000	0.46904	-0.185000	0.11094	0.586000	0.30580	0.998000	0.41325	0.000000	0.08366	0.058000	0.15825	0.1675:0.0:0.8325:0.0	10.177	0.42122	814	0.42100	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase 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	2598.98	36	chr7	134538258	.	G	A	2598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.490e-01;DP=914;ExcessHet=0.0000;FS=2.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-1.228e+00;SOR=0.872	GT:AD:DP:GQ:PL	0/1:93,105:198:99:2613,0,2213	20	0	1	0
chr7	135034622	135034622	C	A	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_178563:exon7:c.C1031A:p.T344N,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.007	B	0.032	B	0.001	D	1.000	N	-1.43	N	1.62	T	-1.056	T	0.015	T	0.029	1.451	10.80	5.72	2.695	0.010	12.703	0.127	0.00221679320966	.	0.00199681	0.0019	0.0014	0	0	0	0.0043	0.0041	0	0.0012548	194	154602	rs141725502	0.0064	0.0061	0.0066	0.0061	0.0079	0.0063	0.0062	0.0078	0.0077	0.0011	0.0017	0	0	0.0009	0	0.0079	0.0043	0	0.0039	0.0039	0.0044	0.0033	0.0070	0.0036	0.0035	0.0065	0.0063	0.0015	0.0044	0.0019	0	0	0.0007	0	0.0070	0.0057	0	0.454	0.08891	T	0.815	0.03886	T	0.007	0.14184	B	0.032	0.22131	B	0.000989	0.40743	D	0.281106	0.846092	0.28563	N	-1.345	0.00668	N	1.62	0.28189	T	1.92	0.00446	N	0.102	0.08506	-1.0558	0.12829	T	0.015	0.06282	T	10	0.0032802224	0.00056	T	0.002217	0.04206	T	0.127	0.34888	.	.	0.0138822411134	0.00435	0.6402089473550704	0.63955	.	.	0.439514398575	0.30510	T	.	.	.	-0.689616	0.00042	T	-0.756965	0.03222	T	0.0182371363432093	0.00543	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	-5.674	0.43461	T	.	.	0.085	0.10062	B	.;.	.;.	1.757777	0.22356	15.59	0.96497632933496169	0.30030	0.29286	0.23781	N	AEFI	0.110890	0.21974	N	-0.727082617932332	0.15263	0.7676891	-0.455869927771581	0.23382	1.274846	0.997769344759177	0.36002	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	1.060000	0.30139	1.674000	0.27972	0.596000	0.33519	0.060000	0.21767	0.392000	0.24668	0.993000	0.69303	0.2701:0.7299:0.0:0.0	12.703	0.56414	803	0.44167	.;Peptidase M14, carboxypeptidase A	.	.	.	.	.	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	1969.98	33	chr7	135034622	.	C	A	1969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.592;DP=865;ExcessHet=0.0000;FS=3.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=0.612;SOR=0.567	GT:AD:DP:GQ:PL	0/1:101,74:175:99:1984,0,2815	20	0	1	0
chr7	135034670	135034670	C	T	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_178563:exon7:c.C1079T:p.T360I,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.839	P	0.602	P	0.000	D	1.000	D	1.855	L	1.49	T	-1.028	T	0.094	T	0.729	4.085	21.0	5.39	2.522	3.012	18.780	0.168	.	0.0074	0.00359425	0.0026	0.0014	0.0024	0	0	0.0057	0.0041	0.0003	0.0018499	286	154602	rs17804854	0.0086	0.0082	0.0089	0.0082	0.0105	0.0084	0.0084	0.0103	0.0103	0.0015	0.0047	0	0	0.0015	0	0.0105	0.0061	0.0003	0.0055	0.0055	0.0061	0.0048	0.0097	0.0052	0.0050	0.0091	0.0088	0.0020	0.0044	0.0039	0	0	0.0009	0.0034	0.0097	0.0080	0	0.025	0.78490	D	0.002	0.79402	D	0.839	0.46454	P	0.602	0.50862	P	0.000000	0.84330	D	0.000000	0.999942	0.51968	D	2.05	0.56469	M	1.49	0.31470	T	-4.71	0.79915	D	0.747	0.74644	-1.0284	0.20973	T	0.094	0.35604	T	10	0.013388097	0.00284	T	.	.	.	0.168	0.42943	.	.	0.104622674875	0.10061	0.8537301862700418	0.85335	.	.	0.69456756115	0.66361	T	.	.	.	-0.295389	0.09102	T	-0.186694	0.55899	T	0.0557070941356545	0.06474	T	0.947905	0.79907	D	.	.	.	.	.	.	.	.	-11.972	0.84715	D	.	.	0.982	0.91596	P	.;.	.;.	4.348508	0.66770	25.0	0.99889950105427738	0.96436	0.94656	0.61882	D	AEFI	0.573282	0.57653	D	0.47405635232449	0.65581	4.840403	0.508919874651315	0.68587	5.240948	0.999999999799904	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	3.049000	0.49560	3.924000	0.40490	0.596000	0.33519	0.993000	0.37899	0.999000	0.35428	0.994000	0.71098	0.0:1.0:0.0:0.0	18.780	0.91895	803	0.44167	.;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1967.98	33	chr7	135034670	.	C	T	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.450e-01;DP=842;ExcessHet=0.0000;FS=0.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-1.870e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1982,0,2301	20	0	1	0
chr7	138706692	138706692	C	A	exonic	ATP6V0A4	.	nonsynonymous SNV	ATP6V0A4:NM_130840:exon21:c.G2455T:p.V819F	Renal tubular acidosis, distal, autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.794	P	0.378	B	0.205	N	1.000	N	1.905	M	-2.08	D	-0.419	T	0.589	D	0.337	1.871	12.22	0.629	0.235	-0.254	6.809	0.385	0.115075267864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.04	0.50809	D	0.794	0.44757	P	0.378	0.43788	B	0.204704	0.03345	N	1.671070	1	0.08975	N	2.015	0.55033	M	-2.08	0.86010	D	-1.2	0.30555	N	0.288	0.37613	-0.4194	0.71412	T	0.589	0.85294	D	10	0.44313166	0.58228	T	0.115075	0.79414	D	0.385	0.70194	0.354	0.35408	0.905033096438	0.90408	0.38904764290429683	0.38819	0.471533087748	0.46419	0.359104156494	0.19255	T	0.281359	0.65408	T	-0.00887306	0.50424	T	-0.250522	0.49765	T	0.405283808708191	0.29141	T	0.945705	0.79334	D	0.1258636	0.29494	0.08885517	0.20743	0.1258636	0.29494	0.08885517	0.20743	-5.12	0.38117	T	0.2866838344979816	0.38275	0.104	0.27968	B	.;.;.;.;.	.;.;.;.;.	1.361082	0.17698	13.32	0.99165988276189476	0.54241	0.09120	0.14939	N	AEFDGBHCI	0.143455	0.26616	N	-0.362101079756182	0.26829	1.467312	-0.507245727525276	0.21956	1.190238	0.999999719252991	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.87	0.629	0.16860	-0.240000	0.08970	-1.632000	0.05022	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.658000	0.32913	0.1289:0.6348:0.0:0.2363	6.809	0.22976	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2322.98	36	chr7	138706692	.	C	A	2322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=882;ExcessHet=0.0000;FS=1.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=0.565;SOR=0.820	GT:AD:DP:GQ:PL	0/1:86,83:169:99:2337,0,2184	20	0	1	0
chr7	140176891	140176891	G	C	exonic	KDM7A	.	nonsynonymous SNV	KDM7A:NM_030647:exon1:c.C47G:p.A16G,	.	.	10	1506	5	1	0	7	0.00231865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.198	B	0.016	B	.	.	0.990	N	0	N	2.67	T	-1.010	T	0.019	T	0.126	1.911	12.35	1.89	0.840	0.447	5.455	0.008	0.00501122642021	.	0.000199681	0.0017	0	0.0085	0	0	0.0024	0	0.0019	0.0002587	40	154602	rs558379371	0.0004	0.0004	0.0004	0.0004	0.0020	0.0003	0.0003	0.0010	0.0007	4.948e-05	0.0003	0.0148	0	0	0.0020	0.0001	0.0015	0.0009	0.0006	0.0006	0.0005	0.0008	0.0012	0.0005	0.0005	0.0005	0.0004	4.857e-05	0	0.0009	0.0162	0	0	0.0034	0.0002	0.0005	0.0012	0.331	0.13088	T	0.0	0.92824	D	0.198	0.29589	B	0.016	0.17743	B	.	.	.	.	0.990245	0.24196	N	0.895	0.22405	L	2.67	0.12473	T	-0.14	0.09135	N	0.166	0.17553	-1.0096	0.27043	T	0.019	0.07893	T	9	0.0044174194	0.00090	T	0.005011	0.12660	T	0.008	0.00669	.	.	0.117191471859	0.11215	0.15201814647770126	0.15123	0.893785170979	0.70334	0.858622908592	0.90907	D	0.011718	0.10413	T	-0.565026	0.00237	T	-0.624931	0.10803	T	0.021094505726029	0.00811	T	0.326967	0.06756	T	0.066502005	0.14315	0.14532992	0.34470	0.066502005	0.14315	0.14532992	0.34469	-5.721	0.43880	T	.	.	0.130	0.27762	B	.	.	2.610327	0.33905	19.48	0.91895283157090735	0.21215	0.29616	0.23868	N	AEFGBHCIJ	0.070627	0.14027	N	-0.537484552455157	0.20878	1.103891	-0.446315217120843	0.23653	1.29105	0.999999515070816	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	1.89	1.89	0.24700	0.012000	0.13184	.	.	0.292000	0.18798	0.010000	0.18352	.	.	0.986000	0.61781	0.1826:0.0:0.8174:0.0	5.455	0.15884	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1092.98	34	chr7	140176891	.	G	C	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.590e-01;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-8.990e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1107,0,855	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	1/1:2,72,0,0:74:99:2349,173,0,2355,216,2398,2355,216,2398,2398	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	1/1:2,72,0,0:74:99:2349,173,0,2355,216,2398,2355,216,2398,2398	0	16	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,44:131:99:.:.:623,0,1640	3	0	18	0
chr7	144363102	144363102	A	G	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.A433G:p.S145G,	.	.	566	953	3	0	0	3	0.0015715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	B	0.005	B	0.554	N	1.000	N	0.805	L	-1.17	T	-0.959	T	0.217	T	0.061	0.302	5.634	1.16	0.057	0.937	2.782	0.065	0.0123671040825	.	.	0.0024	0.0045	0.0027	0.0050	0	0.0011	0.0027	0.0041	0.0001537	4	26028	rs767354802	0.0001	0.0005	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0001	3.845e-05	2.524e-05	3.915e-05	0.0005	0.0001	0.0001	0.0001	0.0003	0.0007	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0002	0	0.0002	0	0	0.0002	0.0006	0.0002	0.364	0.11770	T	0.8	0.04066	T	0.02	0.18235	B	0.005	0.11217	B	0.553654	0.11410	N	0.723471	1	0.08975	N	0.895	0.22405	L	-1.17	0.78199	T	-0.68	0.19509	N	0.057	0.02861	-0.9589	0.39386	T	0.217	0.57902	T	9	0.006443292	0.00146	T	0.012367	0.30882	T	0.065	0.18881	.	.	0.675195094354	0.67244	0.08238694882708382	0.08173	.	.	0.296452790499	0.09874	T	0.047854	0.27844	T	-0.183676	0.23190	T	-0.501614	0.22181	T	0.00284122819720242	0.00030	T	0.325967	0.06723	T	0.045406897	0.07428	0.025975073	0.00663	0.045406897	0.07428	0.025975073	0.00663	-3.534	0.16911	T	.	.	0.063	0.01387	B	.	.	0.644740	0.10131	6.876	0.70561980681994707	0.09336	0.02033	0.06093	N	AEFI	0.052758	0.09447	N	-0.999260516698642	0.08620	0.4048551	-1.04787461803277	0.08752	0.4318119	1.42401157377093E-6	0.01202	0.693126	0.56070	0	0.633656	0.55848	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	3.63	1.16	0.19936	1.185000	0.31675	0.914000	0.22651	0.658000	0.54486	0.014000	0.18986	0.001000	0.17328	0.002000	0.04165	0.6542:0.0:0.1249:0.2209	2.782	0.05035	959	0.08690	Rho guanine nucleotide exchange factor 5/35, 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	0.02381	85.98	35	chr7	144363102	.	A	G	85.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.980e-01;DP=659;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=31.02;MQRankSum=-1.071e+00;QD=3.44;ReadPosRankSum=-8.910e-01;SOR=0.859	GT:AD:DP:GQ:PL	0/1:19,6:25:99:100,0,576	20	0	1	0
chr7	148383806	148383806	G	A	exonic	CNTNAP2	.	unknown	UNKNOWN,	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	.	0	1472	48	2	0	52	0.0173565	.	.	101468	Inborn_genetic_diseases|not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00539137	0.0086	0.0017	0.0016	0	0.0074	0.0100	0.0112	0.0169	0.0082793	1280	154602	rs138477292	0.0090	0.0090	0.0087	0.0093	0.0168	0.0089	0.0088	0.0161	0.0158	0.0012	0.0023	0.0014	0	0.0086	0.0101	0.0095	0.0078	0.0168	0.0064	0.0064	0.0066	0.0062	0.0161	0.0061	0.0059	0.0133	0.0122	0.0017	0.0340	0.0025	0.0014	0.0002	0.0065	0.0102	0.0098	0.0076	0.0161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	0.02381	802.98	33	chr7	148383806	.	G	A	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.440e-01;DP=776;ExcessHet=0.0000;FS=5.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=0.100;SOR=1.371	GT:AD:DP:GQ:PL	0/1:50,34:84:99:817,0,1318	20	0	1	0
chr7	149004087	149004087	C	T	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon10:c.G1648A:p.E550K	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.998	D	0.000	D	1.000	D	1.73	L	1.94	T	-1.085	T	0.099	T	0.92	4.892	28.1	5.81	2.751	7.574	20.073	0.492	.	0.0008	0.000599042	0.0020	0.0002	0.0004	0	0.0135	0.0020	0.0033	0.0005	0.0016688	258	154602	rs142233058	0.0013	0.0013	0.0013	0.0013	0.0016	0.0012	0.0012	0.0008	0.0008	0.0003	0.0004	0.0024	0	0.0129	0.0016	0.0009	0.0014	0.0003	0.0017	0.0017	0.0011	0.0024	0.0011	0.0016	0.0015	0.0009	0.0008	0.0003	0	0.0005	0.0017	0	0.0150	0	0.0011	0.0024	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.985	0.53793	M	1.94	0.22678	T	-3.45	0.67589	D	0.872	0.86941	-1.0851	0.06389	T	0.099	0.36882	T	10	0.020367831	0.00468	T	.	.	.	0.492	0.77847	.	.	0.470484629704	0.46675	.	.	0.485112295693	0.47406	0.77226215601	0.77764	T	0.108602	0.42178	T	-0.0514779	0.44222	T	0.123	0.78447	D	0.0656482360776478	0.08027	T	0.975436	0.91320	D	0.7837388	0.82884	0.8044998	0.88552	0.7837388	0.82885	0.8044998	0.88553	-7.409	0.56968	T	.	.	.	.	.	.	.	4.779472	0.77456	26.7	0.99930003406327583	0.99334	0.96223	0.68101	D	AEFGBCI	0.933218	0.92478	D	0.694133237193501	0.79248	7.037834	0.671963012134611	0.80254	7.258554	0.999999999999781	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.618000	0.82239	5.835000	0.50197	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.447000	0.27828	0.0:1.0:0.0:0.0	20.073	0.97733	878	0.29785	Thioredoxin domain|Thioredoxin, conserved site|Thioredoxin domain|Disulphide isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2938.11	38	chr7	149004087	.	C	T	2938.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.080e-01;DP=986;ExcessHet=0.1072;FS=0.981;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.35;SOR=0.617	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1217,0,1785	19	0	2	0
chr7	155298640	155298640	A	T	exonic	INSIG1	.	nonsynonymous SNV	INSIG1:NM_001346590:exon2:c.A355T:p.I119F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.984	D	0.000	N	1.000	D	1.7	L	0.81	T	-0.744	T	0.251	T	0.484	3.623	18.43	3.85	0.775	4.605	10.021	0.147	0.0278392508602	.	.	8.573e-06	0	0	0	0	1.55e-05	0	0	6.5e-06	1	154602	rs750266191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.68238	T	0.025	0.65728	D	0.968	0.56581	D	0.713	0.54588	P	0.000495	0.43931	N	0.255608	0.98834	0.81001	D	1.65	0.42232	L	0.81	0.56609	T	-1.53	0.62863	N	0.526	0.55540	-0.7440	0.58247	T	0.251	0.62084	T	10	0.37548414	0.53799	T	0.027839	0.50599	D	0.228	0.52768	0.397	0.42426	0.717526509295	0.71504	0.8274739739154022	0.82705	2.18152949631	0.95580	0.717667460442	0.69706	T	0.185169	0.53806	T	0.00593656	0.52471	T	-0.229249	0.51844	T	0.538156261461367	0.34036	D	0.918808	0.70803	D	0.12988703	0.30324	0.13005187	0.31258	0.12988703	0.30324	0.13005187	0.31257	-6.343	0.49063	T	.	.	0.180	0.63028	B	.;.;.	.;.;.	4.235839	0.64182	24.7	0.97925468199428811	0.36914	0.88849	0.48978	D	AEFDGBHCI	0.840807	0.75806	D	0.17479797125814	0.49992	3.193591	0.0721779386947367	0.43157	2.623202	0.999999999814312	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.99	3.85	0.43556	4.601000	0.60798	2.862000	0.35209	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.918000	0.45347	0.9199:0.0:0.0801:0.0	10.021	0.41214	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	0	0	0	0	0.02381	1489.98	37	chr7	155298640	.	A	T	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=816;ExcessHet=0.0000;FS=5.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.522;SOR=0.956	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1504,0,1317	20	0	1	0
chr8	7972136	7972136	A	G	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.T1118C:p.I373T,	.	.	1310	208	0	4	0	8	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0151	0.0267	0	0	0	0	0	0.0144	0.0003842	10	26028	rs559461327	0.0028	0.0007	0.0029	0.0028	0.0250	0.0026	0.0025	0.0166	0.0139	0.0063	0.0023	0	0	0	0.0250	0.0018	0.0062	0.0026	0.0061	0.0051	0.0059	0.0064	0.0079	0.0054	0.0052	0.0069	0.0066	0.0079	.	0.0011	0	0	0	0	0.0022	0.0055	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.21307	L	.	.	.	.	.	.	0.271	0.30687	.	.	.	.	.	.	.	0.008243114	0.00187	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.014820827962515134	0.01439	.	.	0.652650713921	0.60362	T	0.025177	0.18878	T	0.0265286	0.55259	T	-0.19967	0.54677	T	.	.	.	0.79972	0.44511	T	0.06469843	0.13752	0.19872183	0.43719	0.06469843	0.13752	0.19872183	0.43718	-7.109	0.54825	T	.	.	0.252	0.48624	B	.	.	2.089782	0.26587	17.17	0.78814143144105075	0.12464	0.69119	0.34063	D	AEFI	.	.	.	.	.	.	.	.	.	4.95060567593796E-5	0.03989	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.618733	0.41124	.	.	.	3.950000	0.56384	-0.702000	0.07790	0.314000	0.19222	0.997000	0.40164	0.000000	0.08366	0.039000	0.14166	0.9999:0.0:1.0E-4:0.0	5.289	0.15028	988	0.01987	Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.125	3546.95	33	chr8	7972136	.	A	G	3546.95	.	AC=2;AF=0.125;AN=16;DP=223;ExcessHet=0.0000;FS=0.000;MLEAC=5;MLEAF=0.313;MQ=44.80;QD=31.39;SOR=1.035	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3554,338,0	7	1	0	13
chr8	7973066	7973066	G	A	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C188T:p.A63V,	.	.	1288	232	0	2	0	4	0.00854701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0	0.0095	.	0	0.1351	0	0.4615	0.0002329	36	154602	rs768597669	0.0066	0.0004	0.0055	0.0078	0.1017	0.0059	0.0056	0.0587	0.0460	0	0.0009	0	0	0	0.1017	0.0301	0.0023	0.0088	0.0009	0.0004	0.0014	0.0003	0.0769	0.0005	0.0004	0.0444	0.0348	0.0001	.	0	.	.	0	0	0.0769	0	0	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.175	0.29870	L	.	.	.	.	.	.	0.026	0.00527	.	.	.	.	.	.	.	0.0019731224	0.00027	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029522577790026042	0.02901	.	.	0.464598178864	0.33940	T	0.010284	0.09303	T	-0.47488	0.00793	T	-0.500461	0.22300	T	.	.	.	0.625137	0.24143	T	0.021533862	0.00762	0.07469063	0.16365	0.021533862	0.00761	0.07469063	0.16364	-2.77	0.07910	T	.	.	0.093	0.13969	B	.	.	1.449211	0.18700	13.88	0.71280975916176637	0.09576	0.01682	0.05369	N	AEFI	.	.	.	.	.	.	.	.	.	2.54276724286688E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0790037	0.18180	0.45	0.45	0.15835	1.426000	0.34478	-0.946000	0.06830	0.301000	0.18947	0.486000	0.26847	0.000000	0.08366	0.021000	0.11733	0.3686:0.0:0.6314:0.0	2.888	0.05320	988	0.01987	.	.	.	.	.	.	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	0.1667	4719.59	2	chr8	7973066	.	G	A	4719.59	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.620e-01;DP=175;ExcessHet=0.0000;FS=5.229;MLEAC=6;MLEAF=0.500;MQ=56.81;MQRankSum=4.09;QD=29.68;ReadPosRankSum=0.182;SOR=1.052	GT:AD:DP:GQ:PL	1/1:4,155:159:99:4721,318,0	5	1	0	15
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	0/2:54,0,48:102:99:1854,2017,4274,0,2257,2111	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	0/2:54,0,48:102:99:1854,2017,4274,0,2257,2111	7	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,92:287:99:0|1:10609944_A_G:1692,0,6290:10609944	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:194,0,93:287:99:0|1:10609944_A_G:1701,2275,8825,0,6550,6281:10609944	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:194,0,93:287:99:0|1:10609944_A_G:1701,2275,8825,0,6550,6281:10609944	0	0	15	4
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp 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	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:66,31:97:99:127,0,1200	12	0	9	0
chr8	30847402	30847402	A	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon8:c.T2765G:p.F922C,	.	.	445	1073	4	0	0	4	0.00186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.799	P	0.435	N	1.000	N	0.895	L	2.39	T	-1.068	T	0.053	T	0.471	1.830	12.08	4.31	1.019	2.745	7.152	0.101	0.0133477258703	.	.	9.184e-05	0	0	0	0	1.517e-05	0	0.0006	7.12e-05	11	154602	rs779858055	3.972e-05	3.967e-05	1.226e-05	6.747e-05	0.0006	3.116e-05	2.85e-05	0.0005	0.0005	0	0	0	0	0	0.0002	0	3.315e-05	0.0006	1.972e-05	1.97e-05	0	4.038e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.007	0.59928	D	0.123	0.35582	T	0.99	0.63424	D	0.799	0.58136	P	0.435470	0.12695	N	0.711940	1	0.08975	N	2.095	0.58118	M	2.39	0.15724	T	-4.41	0.77391	D	0.499	0.53181	-1.0683	0.09791	T	0.053	0.22655	T	10	0.104718775	0.19321	T	0.013348	0.32685	T	0.101	0.28911	0.364	0.37036	0.239901079897	0.23603	0.39103944401596635	0.39018	0.190035660652	0.21322	0.334791302681	0.15657	T	0.301232	0.67369	T	-0.386658	0.02826	T	-0.431273	0.29791	T	0.964259266853333	0.66902	D	0.467453	0.13767	T	0.17024297	0.37587	0.18588294	0.41727	0.17024297	0.37587	0.18588294	0.41726	-3.254	0.13151	T	.	.	0.170	0.37445	B	.;.;.	.;.;.	3.080122	0.41431	21.4	0.981774752899227	0.38916	0.34860	0.25167	N	AEBHCI	0.242742	0.36414	N	-0.0910139245980518	0.37786	2.203409	-0.20617965058635	0.31313	1.770977	0.999972387892321	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.46	4.31	0.50718	2.738000	0.47075	5.226000	0.48015	0.756000	0.94297	0.034000	0.20669	1.000000	0.68203	0.572000	0.30699	0.8253:0.0:0.1747:0.0	7.152	0.24793	734	0.53889	.;.;.	.	.	.	.	.	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	1454.98	99	chr8	30847402	.	A	C	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=1159;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-1.070e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/1:75,51:126:99:1469,0,2183	20	0	1	0
chr8	35726320	35726320	T	C	exonic	UNC5D	.	nonsynonymous SNV	UNC5D:NM_001322818:exon10:c.T1457C:p.V486A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.817	P	0.23	B	0.000	D	1.000	D	1.355	L	2.47	T	-0.984	T	0.126	T	0.701	2.584	14.60	6.04	2.317	7.494	16.588	0.130	0.0149258101995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.10311	T	0.386	0.50514	T	0.067	0.45613	B	0.008	0.38212	B	0.000017	0.62929	D	0.121009	0.999994	0.58761	D	1.435	0.35949	L	0.58	0.54911	T	-0.49	0.19720	N	0.862	0.85872	-0.9838	0.34116	T	0.126	0.43215	T	10	0.37111577	0.53482	T	0.014926	0.35361	T	0.130	0.35528	0.313	0.28774	0.128874641272	0.12493	0.5101651304021944	0.50938	0.574329865331	0.53469	0.801472067833	0.82187	T	0.020247	0.15979	T	0.0748664	0.61435	D	-0.130236	0.60953	T	0.615844070911407	0.37036	D	0.954705	0.84742	D	0.091451235	0.21428	0.112271145	0.27087	0.091451235	0.21428	0.112271145	0.27087	-1.9	0.02896	T	.	.	0.738	0.80299	P	.;.;.;.;.;.	.;.;.;.;.;.	3.194132	0.43412	21.7	0.97824912644889783	0.36220	0.99717	0.98923	D	AEFBI	0.911048	0.86980	D	0.134401183547886	0.48074	3.024387	0.323756544504038	0.56940	3.858172	0.999999942507708	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	7.472000	0.79998	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.588	0.84597	611	0.66908	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	2430.98	35	chr8	35726320	.	T	C	2430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=887;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=0.885;SOR=0.844	GT:AD:DP:GQ:PL	0/1:91,87:178:99:2445,0,2359	20	0	1	0
chr8	38969719	38969719	A	T	exonic	PLEKHA2	.	nonsynonymous SNV	PLEKHA2:NM_021623:exon12:c.A1214T:p.H405L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.09	B	0.036	B	.	.	1.000	D	.	.	3.56	T	-0.952	T	0.011	T	0.368	2.275	13.57	4.66	1.030	3.668	8.655	0.086	0.00418842162713	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs775831905	3.886e-06	3.42e-06	4.597e-06	3.154e-06	4.968e-06	1.14e-06	8.3e-07	1.46e-06	1.06e-06	0	0	0	0	0	0	4.968e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.06576	T	0.09	0.25173	B	0.036	0.22909	B	.	.	.	.	0.794888	0.81001	D	.	.	.	.	.	.	.	.	.	0.336	0.39962	-0.9521	0.40608	T	0.011	0.04181	T	8	0.12911242	0.24564	T	0.004188	0.10089	T	.	.	.	.	0.609343871639	0.60621	0.18583546924373032	0.18501	.	.	0.517262458801	0.41241	T	0.020917	0.16384	T	-0.0323723	0.47072	T	-0.284277	0.46364	T	0.420972496271133	0.29726	T	0.787321	0.42620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.18206	B	.;.;.	.;.;.	2.626008	0.34140	19.54	0.96241851659937894	0.29154	0.92770	0.56503	D	AEFDBI	0.371295	0.45735	N	-0.122842966124433	0.36399	2.103426	0.0354812383467643	0.41375	2.484708	0.999986730022734	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.81	4.66	0.57857	2.974000	0.48964	9.332000	0.80140	0.756000	0.94297	0.990000	0.36992	1.000000	0.68203	0.988000	0.63387	0.8524:0.0:0.1476:0.0	8.655	0.33219	640	0.64132	.;.;.	.	.	.	.	.	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	942.98	36	chr8	38969719	.	A	T	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=0.085;SOR=0.633	GT:AD:DP:GQ:PL	0/1:55,41:96:99:957,0,1393	20	0	1	0
chr8	47962392	47962392	A	G	exonic	MCM4	.	nonsynonymous SNV	MCM4:NM_005914:exon4:c.A487G:p.K163E	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	314607	not_provided|Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency	MedGen:C3661900|MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.126	B	0.06	B	0.000	D	1.000	D	2.165	M	2.72	T	-1.121	T	0.047	T	0.789	2.732	15.09	5.61	2.142	8.653	15.803	0.207	0.0360211033476	0.0008	.	0.0006	0	8.649e-05	0	0.0002	0.0009	0.0011	0.0004	0.0005627	87	154602	rs34206069	0.0005	0.0005	0.0004	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0.0001	0.0003	0.0053	0	0.0003	0.0062	0.0003	0.0010	0.0004	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	4.81e-05	0	0.0003	0.0060	0	0.0004	0.0068	0.0006	0.0009	0.0008	0.175	0.22400	T	0.624	0.07342	T	0.126	0.26920	B	0.06	0.26717	B	0.000000	0.84330	D	0.090253	1	0.81001	D	2.79	0.81396	M	2.72	0.11947	T	-2.11	0.48020	N	0.694	0.69913	-1.1215	0.02239	T	0.047	0.19958	T	9	0.013287008	0.00282	T	0.036021	0.56721	D	0.207	0.49555	.	.	0.220303561663	0.21668	0.6464708432910536	0.64582	0.296881417285	0.32077	0.691836297512	0.65969	T	0.211728	0.57258	T	-0.230912	0.16527	T	-0.117695	0.61990	T	0.0680417964843266	0.08374	T	0.914909	0.71446	D	0.76549876	0.81779	0.65940475	0.80047	0.7058984	0.78382	0.70069766	0.82366	-14.744	0.95224	D	0.35545787551828145	0.45234	0.723	0.76291	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.602358	0.50884	23.0	0.985095756757287	0.42325	0.99156	0.92054	D	AEFDGBCI	0.948456	0.96010	D	0.194967922276197	0.50958	3.280963	0.345863227491561	0.58259	3.995446	0.999999999999242	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.61	5.61	0.85347	8.697000	0.91034	11.227000	0.89965	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.803	0.78241	542	0.72843	.;.;MCM N-terminal domain;.;MCM N-terminal domain;MCM N-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	1154.98	33	chr8	47962392	.	A	G	1154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=776;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-7.830e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1169,0,899	20	0	1	0
chr8	64604767	64604767	C	T	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_001324112:exon5:c.G1148A:p.G383E	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.167	B	0.199	B	0.776	N	1.000	N	2.045	M	-2.11	D	-0.471	T	0.575	D	0.097	1.244	10.05	-1.91	-0.380	-0.285	9.606	0.238	0.164036028275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.135	0.34124	T	0.167	0.28604	B	0.199	0.36804	B	0.775725	0.06624	N	1.089970	1	0.08975	N	0.895	0.22405	L	-2.11	0.86216	D	-0.3	0.11913	N	0.133	0.12913	-0.4711	0.69686	T	0.575	0.84680	D	10	0.18884072	0.34457	T	0.164036	0.84324	D	0.238	0.54217	0.581	0.70733	0.794756903773	0.79284	0.48661002383132596	0.48581	0.160446265012	0.18105	0.25007635355	0.03775	T	0.229221	0.59499	T	-0.160854	0.26629	T	-0.468832	0.25641	T	0.141301248517526	0.16387	T	0.553245	0.19112	T	0.041421745	0.06096	0.06605739	0.13475	0.041421745	0.06096	0.06605739	0.13475	-5.712	0.43800	T	.	.	0.100	0.17189	B	.	.	-0.470747	0.01962	0.169	0.65610116103570171	0.07821	0.03362	0.08454	N	AEFBI	0.097950	0.19746	N	-1.0050070526602	0.08499	0.3987396	-1.10126308278895	0.07676	0.3743341	0.0350226043616279	0.14181	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	-1.91	0.07225	-0.521000	0.06331	-1.105000	0.06316	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1009:0.272:0.0:0.6271	9.606	0.38797	750	0.51762	.	.	.	.	.	.	Uncertain significance	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	1437.98	35	chr8	64604767	.	C	T	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.497;DP=808;ExcessHet=0.0000;FS=1.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.118e+00;SOR=0.920	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1452,0,1380	20	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.58	H	-0.14	T	0.359	D	0.556	D	0.978	4.406	23.3	5.64	2.151	7.963	15.858	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, 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	0.1818	460.15	39	chr8	67267206	.	T	G	460.15	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-2.883e+00;DP=1743;ExcessHet=0.6776;FS=182.454;InbreedingCoeff=-0.2727;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=2.03;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,17:114:8:0|1:67267202_T_G:8,0,3073:67267202	7	0	4	10
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.995	D	0.000	D	1.000	D	1.315	L	1.82	T	-1.059	T	0.129	T	0.464	5.167	32	5.15	2.555	7.776	19.003	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	64.79	34	chr8	67299229	.	C	T	64.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.020e+00;DP=397;ExcessHet=0.8031;FS=237.740;InbreedingCoeff=-0.1202;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=-4.370e-01;SOR=8.497	GT:AD:DP:GQ:PL	0/1:9,4:15:14:14,0,163	12	0	4	5
chr8	67343244	67343244	G	A	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon1:c.C44T:p.A15V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.757	P	0.342	B	0.000	D	1.000	D	3.07	M	1.48	T	-0.652	T	0.143	T	0.716	5.108	32	4.63	2.091	9.256	17.496	0.375	0.249575470934	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347297540	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	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	0.002	0.72154	D	0.003	0.76473	D	0.757	0.43436	P	0.342	0.42471	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.805	0.81760	M	1.48	0.31731	T	-3.28	0.69714	D	0.676	0.68342	-0.6525	0.62605	T	0.143	0.46550	T	10	0.6328269	0.68615	D	0.249575	0.89056	D	0.375	0.69358	0.346	0.34112	0.506211326956	0.50260	0.7307356103775541	0.73018	0.623551032226	0.56587	0.884203970432	0.94519	D	0.570324	0.85762	D	0.102745	0.64587	D	-0.0901897	0.64147	T	0.991640567779541	0.81968	D	0.977702	0.93682	D	0.85335016	0.87584	0.8306317	0.90226	0.85335016	0.87585	0.8306317	0.90226	-8.618	0.65208	D	.	.	0.989	0.93416	P	.;.	.;.	4.711470	0.75700	26.4	0.99931130804971524	0.99387	0.95036	0.63205	D	ALL	0.886882	0.81867	D	0.645174795168783	0.76056	6.416742	0.642146414279594	0.78026	6.794283	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.63	4.63	0.57175	9.439000	0.96737	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.496	0.87612	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	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	1502.98	36	chr8	67343244	.	G	A	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=880;ExcessHet=0.0000;FS=1.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=0.468;SOR=0.560	GT:AD:DP:GQ:PL	0/1:86,72:158:99:1517,0,1981	20	0	1	0
chr8	72937418	72937418	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2063G:p.H688R,	.	.	432	1024	60	5	1	71	0.03305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.579	P	0.288	B	0.447	N	1.000	N	0.69	N	2.16	T	-1.042	T	0.036	T	0.215	-0.716	0.922	2.15	0.250	1.190	7.771	0.031	.	0.0018	0.00579073	0.0060	0.0002	0.0014	0.0001	0.0002	0.0024	0.0077	0.0324	0.0052134	806	154602	rs148879809	0.0034	0.0034	0.0025	0.0043	0.0305	0.0033	0.0033	0.0295	0.0291	0.0001	0.0014	0.0093	7.558e-05	0.0003	0.0201	0.0014	0.0048	0.0305	0.0024	0.0024	0.0019	0.0030	0.0305	0.0022	0.0022	0.0265	0.0250	0.0002	0	0.0020	0.0098	0.0002	9.438e-05	0.0068	0.0020	0.0047	0.0305	0.167	0.23095	T	0.393	0.15355	T	0.579	0.38789	P	0.288	0.40614	B	0.447423	0.12550	N	0.645143	0.999796	0.20333	N	0.755	0.19153	N	2.16	0.19166	T	0.17	0.05125	N	0.194	0.21319	-1.0423	0.16621	T	0.036	0.15640	T	10	0.0031713843	0.00053	T	.	.	.	0.031	0.07369	.	.	0.449242652821	0.44546	0.2769550992391696	0.27608	0.678472507498	0.59887	0.326055109501	0.14337	T	0.072245	0.34406	T	-0.586394	0.00176	T	-0.592094	0.13486	T	0.0182838058385119	0.00547	T	0.329367	0.06881	T	0.031181686	0.02911	0.04825675	0.07130	0.031181686	0.02911	0.04825675	0.07129	-3.165	0.12058	T	.	.	0.066	0.02145	B	.	.	0.497220	0.08661	5.435	0.83565526180723326	0.14796	0.44910	0.27422	N	AEFBI	0.231181	0.35445	N	-0.568358184222436	0.19911	1.045796	-0.633352496499007	0.18638	0.996561	0.027996616103475	0.13806	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.65	2.15	0.26590	1.870000	0.39166	1.146000	0.24443	0.691000	0.84096	0.046000	0.21249	0.025000	0.21018	0.780000	0.36908	0.7174:0.1446:0.0:0.138	7.771	0.28173	849	0.35778	.	.	.	.	.	.	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	6278.68	34	chr8	72937418	.	A	G	6278.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.776;DP=1285;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=0.379;SOR=0.658	GT:AD:DP:GQ:PL	0/1:96,94:190:99:2525,0,2595	18	0	3	0
chr8	81839844	81839844	T	C	exonic	SNX16	.	nonsynonymous SNV	SNX16:NM_152836:exon2:c.A143G:p.N48S	.	.	433	1069	19	1	0	21	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.007	B	0.003	B	0.090	N	1.000	N	1.01	L	1.28	T	-0.984	T	0.064	T	0.045	-1.262	0.047	-1.15	-0.420	0.648	8.411	0.031	0.0113413342026	0.0029	0.00139776	0.0027	0.0003	0.0011	0.0002	0.0003	0.0030	0.0033	0.0064	0.0027296	422	154602	rs139939820	0.0040	0.0040	0.0039	0.0041	0.0074	0.0039	0.0039	0.0069	0.0067	0.0005	0.0015	0.0001	2.521e-05	0.0003	0.0047	0.0044	0.0031	0.0074	0.0025	0.0025	0.0027	0.0023	0.0066	0.0023	0.0022	0.0048	0.0042	0.0008	0.0077	0.0014	0	0	0.0004	0.0068	0.0041	0.0019	0.0066	0.152	0.28026	T	0.323	0.25670	T	0.007	0.14184	B	0.003	0.08700	B	0.090284	0.20383	N	0.538693	1	0.08975	N	1.1	0.28011	L	1.28	0.47130	T	0.01	0.45222	N	0.071	0.04426	-0.9841	0.34045	T	0.064	0.26597	T	10	0.0029803216	0.00048	T	0.011341	0.28865	T	0.031	0.07369	.	.	0.195762928549	0.19159	0.14476837161345818	0.14399	0.190157349264	0.21331	0.335265040398	0.15727	T	0.011008	0.09875	T	-0.647063	0.00075	T	-0.698233	0.05923	T	0.00515935459690777	0.00056	T	0.746125	0.36937	T	0.02540789	0.01476	0.039155558	0.03943	0.02540789	0.01476	0.039155558	0.03943	-2.104	0.03944	T	.	.	0.061	0.01408	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.237351	0.06179	2.628	0.26450479056718307	0.01267	0.14500	0.18435	N	AEBI	0.113747	0.22431	N	-1.47691906788553	0.02014	0.08847967	-1.43746023158868	0.02886	0.133584	0.999644785283981	0.41316	0.706298	0.61202	0	0.541556	0.11502	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.74	-1.15	0.09211	0.468000	0.21763	0.496000	0.18948	-1.517000	0.01009	0.079000	0.22314	0.983000	0.30585	0.694000	0.33958	0.0:0.1307:0.474:0.3953	8.411	0.31805	857	0.34089	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	2703.11	104	chr8	81839844	.	T	C	2703.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.458;DP=923;ExcessHet=0.1072;FS=1.786;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-2.800e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1395,0,1184	19	0	2	0
chr8	89784119	89784119	G	A	exonic	RIPK2	.	nonsynonymous SNV	RIPK2:NM_001375360:exon7:c.G598A:p.V200I	.	.	.	.	.	.	.	.	.	.	.	3319872	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.008	B	0.005	B	0.156	N	1.000	N	0.695	N	-1.19	T	-0.964	T	0.232	T	0.089	2.202	13.32	1.55	0.383	0.210	3.452	0.100	0.0153164916384	0.0004	.	0.0002	0.0002	0.0002	0	0	0.0003	0	0.0001	0.0001488	23	154602	rs199850869	0.0003	0.0003	0.0004	0.0003	0.0026	0.0003	0.0003	0.0012	0.0009	0.0006	0.0002	6.18e-05	0	0	0.0026	0.0004	0.0006	8.071e-05	0.0003	0.0003	0.0004	0.0002	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0007	0	0	0	0.0128	0.0003	0.0021	0	0.119	0.28026	T	0.481	0.11864	T	0.008	0.14655	B	0.005	0.11217	B	0.156452	0.17799	N	0.405345	0.999904	0.20103	N	0.805	0.20218	L	-1.19	0.78427	T	-0.06	0.07882	N	0.059	0.03069	-0.9637	0.38468	T	0.232	0.59842	T	10	0.04045829	0.02617	T	0.015316	0.35983	T	0.100	0.28662	.	.	0.559688537222	0.55629	0.08190269040018158	0.08125	0.145579570331	0.16448	0.280264019966	0.07528	T	0.044519	0.26842	T	-0.342662	0.05205	T	-0.43105	0.29815	T	0.0187838992868907	0.00590	T	0.613939	0.23413	T	0.022896614	0.00986	0.03348614	0.02253	0.022896614	0.00986	0.03348614	0.02252	-4.348	0.28844	T	.	.	0.070	0.03301	B	.	.	1.825299	0.23195	15.92	0.97349709991146927	0.33515	0.78418	0.38685	D	AEFBI	0.077431	0.15601	N	-0.499580264547046	0.22094	1.177366	-0.349241070370784	0.26532	1.466139	0.0900979198632802	0.16101	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.73	1.55	0.22356	0.221000	0.17463	0.273000	0.16680	0.676000	0.76740	0.998000	0.41325	0.939000	0.28734	0.994000	0.71098	0.0786:0.2708:0.3728:0.2778	3.452	0.07071	908	0.22609	.	.	.	.	.	.	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	263.98	28	chr8	89784119	.	G	A	263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.388e+00;DP=643;ExcessHet=0.0000;FS=8.232;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-2.920e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:20,12:32:99:278,0,636	20	0	1	0
chr8	102311813	102311813	C	G	exonic	UBR5	.	nonsynonymous SNV	UBR5:NM_001282873:exon19:c.G2340C:p.Q780H	.	.	435	1083	4	0	0	4	0.00184332	.	.	2289927	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.98	D	0.948	D	0.000	D	1.000	D	1.7	L	0.71	T	-0.680	T	0.231	T	0.739	4.248	22.1	4.3	0.965	1.331	11.516	0.271	0.0272620199185	7.7e-05	.	0.0001	0	0.0002	0	0	8.998e-05	0	0.0004	9.7e-05	15	154602	rs144623404	7.798e-05	7.798e-05	6.126e-05	9.488e-05	0.0040	6.6e-05	6.142e-05	0.0027	0.0023	0.0001	4.472e-05	0	0	0	0.0040	3.507e-05	0.0002	0.0004	5.253e-05	5.25e-05	3.856e-05	6.714e-05	8.823e-05	2.556e-05	1.829e-05	3.763e-05	2.576e-05	4.811e-05	0	0	0	0	0	0	8.823e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	0.98	0.59353	D	0.948	0.68536	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.795	0.47270	L	0.71	0.51228	T	-3.46	0.67705	D	0.753	0.75192	-0.6803	0.61359	T	0.231	0.59645	T	10	0.25924432	0.43361	T	0.027262	0.50089	D	0.271	0.58633	0.131	0.03577	0.271610670623	0.26767	0.6293734705372711	0.62871	1.6529612223	0.89572	0.843980908394	0.88701	D	0.660143	0.89791	D	-0.159411	0.26850	T	-0.144793	0.59701	T	0.463277578353882	0.31285	T	0.944805	0.79065	D	0.51434225	0.67933	0.44217333	0.67476	0.51434225	0.67934	0.44217333	0.67477	-4.598	0.32147	T	.	.	0.624	0.69844	P	.;.;.	.;.;.	3.590026	0.50659	23.0	0.99775881655259091	0.86346	0.96917	0.71647	D	AEFBI	0.463525	0.51240	N	0.445785957653447	0.63963	4.640761	0.416322353718167	0.62580	4.475985	0.999995423841038	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	4.3	0.50540	1.369000	0.33832	0.869000	0.22297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8891:0.0:0.1109	11.516	0.49771	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1017.98	35	chr8	102311813	.	C	G	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-1.622e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/1:55,45:100:99:1032,0,1331	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|2:91,0,58:149:99:1|0:102560764_C_G:2387,2563,6466,0,3834,3626:102560764	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|2:91,0,58:149:99:1|0:102560764_C_G:2387,2563,6466,0,3834,3626:102560764	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|2:91,0,58:149:99:1|0:102560764_C_G:2387,2563,6466,0,3834,3626:102560764	11	0	1	1
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	1.0	D	0.997	D	0.000	D	1.000	D	1.115	L	1.39	T	-1.032	T	0.165	T	0.358	3.812	19.36	6.02	2.857	7.403	19.525	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	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	690.63	84	chr8	132010871	.	G	C	690.63	.	AC=7;AF=0.250;AN=28;BaseQRankSum=-3.452e+00;DP=3010;ExcessHet=2.5830;FS=194.769;InbreedingCoeff=-0.3327;MLEAC=9;MLEAF=0.321;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.12;SOR=12.620	GT:AD:DP:GQ:PL	0/1:132,55:195:99:150,0,2087	7	0	7	7
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	1/1:0,60,0:60:99:2635,181,0,2635,181,2635	0	17	0	0
chr8	144039956	144039956	G	A	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_001134374:exon2:c.G259A:p.E87K	.	.	416	1090	15	1	0	17	0.00773782	.	.	2330110	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.83	T	0.994	D	0.668	P	0.016	N	1.000	N	1.995	M	0.74	T	-0.962	T	0.142	T	0.279	3.535	18.04	3.7	2.267	2.032	9.148	0.133	0.0151421831396	0.0007	0.000199681	0.0009	0.0004	0.0010	0	0	0.0012	0.0033	0.0007	0.0008732	135	154602	rs199507567	0.0008	0.0008	0.0008	0.0008	0.0134	0.0008	0.0007	0.0110	0.0101	0.0004	0.0009	0.0074	0	0	0.0134	0.0006	0.0014	0.0008	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0005	9.632e-05	0	0.0004	0.0069	0	0	0.0068	0.0007	0.0014	0.0004	0.039	0.57480	D	0.291	0.20944	T	0.994	0.66517	D	0.668	0.53048	P	0.016262	0.28022	N	0.251856	0.999995	0.08975	N	1.79	0.46772	L	0.74	0.50459	T	-1.97	0.45587	N	0.464	0.52119	-0.9616	0.38877	T	0.142	0.46312	T	10	0.010044575	0.00225	T	0.015142	0.35698	T	0.133	0.36157	.	.	0.218112801441	0.21410	0.38886355171559134	0.38801	0.327646396377	0.34895	0.462852954865	0.33703	T	0.020233	0.15966	T	-0.413544	0.01883	T	-0.440918	0.28706	T	0.0297870838569755	0.01956	T	0.80202	0.44827	T	0.08216754	0.18915	0.19419034	0.43028	0.08216754	0.18915	0.19419034	0.43027	-3.96	0.23203	T	.	.	0.172	0.57448	B	.;.	.;.	3.866900	0.56112	23.7	0.99888875270921496	0.96359	0.46627	0.27802	N	AEFDBCI	0.131075	0.24988	N	0.166849326952825	0.49611	3.159694	0.13408147778796	0.46302	2.87857	0.974805925770533	0.29575	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.6	3.7	0.41607	2.101000	0.41411	.	.	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.901000	0.43729	0.1094:0.0:0.8906:0.0	9.148	0.36108	970	0.06235	Speriolin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2182.98	36	chr8	144039956	.	G	A	2182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=850;ExcessHet=0.0000;FS=2.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=-5.700e-02;SOR=0.875	GT:AD:DP:GQ:PL	0/1:66,80:146:99:2197,0,1598	20	0	1	0
chr8	144416027	144416027	G	A	exonic	SLC39A4	.	nonsynonymous SNV	SLC39A4:NM_017767:exon1:c.C182T:p.P61L	Acrodermatitis enteropathica, Autosomal recessive	YES	0	1468	50	4	0	58	0.0193721	.	.	304624	Hereditary_acrodermatitis_enteropathica|not_provided	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.006	B	0.001	B	0.001	N	1.000	N	0.55	N	0.62	T	-1.031	T	0.058	T	0.092	2.014	12.69	-1.59	-0.305	-0.416	3.545	0.044	0.0449013786341	0.0016	0.000998403	0.0021	0.0009	0.0019	0.0004	0	0.0024	0.0079	0.0028	0.001313	203	154602	rs187080747	0.0014	0.0014	0.0012	0.0015	0.0371	0.0013	0.0013	0.0330	0.0315	0.0012	0.0013	0.0140	0.0003	4.448e-05	0.0371	0.0008	0.0030	0.0031	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0008	0.0002	0	0.0014	0.0135	0.0004	0	0.0204	0.0011	0.0019	0.0010	0.032	0.44694	D	0.028	0.54934	D	0.002	0.09854	B	0.001	0.04355	B	0.000906	0.00708	N	3.794710	1	0.08975	N	1.32	0.33002	L	0.62	0.53302	T	-1.47	0.35991	N	0.089	0.15469	-1.0307	0.20227	T	0.058	0.24428	T	10	0.0048852265	0.00104	T	0.044901	0.61720	D	0.044	0.11924	.	.	0.300784259202	0.29686	0.4110761476787007	0.41023	0.130730633886	0.14752	0.433279931545	0.29657	T	0.046456	0.27431	T	-0.630726	0.00095	T	-0.682762	0.06816	T	0.00352813068109344	0.00037	T	0.580842	0.21027	T	0.03590363	0.04316	0.042633068	0.05121	0.034164343	0.03779	0.056370575	0.10059	-4.155	0.31869	T	.	.	0.119	0.24599	B	.;.	.;.	0.444568	0.08149	4.879	0.94716817475581216	0.25385	0.06751	0.12773	N	AEFBCI	0.096460	0.19473	N	-1.13734089852011	0.05990	0.2746098	-1.19798347222329	0.05943	0.2846568	0.999688670972249	0.41756	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.17	-1.59	0.08003	-1.747000	0.01926	-0.271000	0.10347	0.611000	0.49015	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0849:0.1347:0.3678:0.4126	3.545	0.07380	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1203.98	47	chr8	144416027	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1026;ExcessHet=0.0000;FS=6.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-6.930e-01;SOR=0.301	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1218,0,1157	20	0	1	0
chr8	144450527	144450527	C	G	exonic	CYHR1	.	nonsynonymous SNV	CYHR1:NM_001330618:exon4:c.G1067C:p.S356T	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.0	B	0.001	N	1.000	D	-0.14	N	.	.	-1.085	T	0.059	T	0.101	0.119	4.641	4.19	1.126	2.614	3.862	0.077	0.00352250527196	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs764303790	4.24e-05	3.817e-05	2.685e-05	5.567e-05	6.307e-06	2.867e-05	2.408e-05	1.05e-06	3.9e-07	0	0	0.0009	0	0	0	6.307e-06	9.746e-05	0	2.628e-05	2.626e-05	2.569e-05	2.689e-05	2.939e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0.0006	0	0	0	2.939e-05	0	0	0.553	0.07048	T	0.55	0.12456	T	0.0	0.02946	B	0.0	0.01387	B	0.001351	0.39310	N	0.325984	0.946553	0.26627	N	0.55	0.14455	N	.	.	.	-0.99	0.26843	N	0.046	0.08925	-1.0848	0.06444	T	0.059	0.24871	T	9	0.04472187	0.03460	T	0.003523	0.08000	T	0.077	0.22490	0.298	0.26362	0.324436698001	0.32047	0.7041996669998615	0.70361	0.0748791605397	0.08398	0.469364702702	0.34593	T	0.044816	0.26930	T	-0.220784	0.17887	T	-0.544099	0.17897	T	0.0424979359926537	0.04147	T	0.765923	0.39354	T	0.030150892	0.02628	0.039396044	0.04023	0.030150892	0.02628	0.039396044	0.04023	-3.703	0.19363	T	.	.	0.068	0.03301	B	.;.	.;.	2.754756	0.36121	20.2	0.72862670684545783	0.10122	0.83048	0.42199	D	AEFGBI	0.178423	0.30568	N	-0.515435315687882	0.21581	1.146338	-0.317175724003753	0.27544	1.529122	0.999804444972704	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.21	4.19	0.48645	2.112000	0.41516	5.999000	0.52457	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.5435:0.0:0.4565	3.862	0.08506	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	0.02381	1198.98	36	chr8	144450527	.	C	G	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=828;ExcessHet=0.0000;FS=8.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-4.320e-01;SOR=1.472	GT:AD:DP:GQ:PL	0/1:85,44:129:99:1213,0,2231	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,10,0:29:99:.:.:302,0,605,359,635,994	3	5	9	0
chr9	2831266	2831266	A	T	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon6:c.T595A:p.F199I,	.	.	454	1066	2	0	0	2	0.000937207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.97	D	0.833	P	0.000	D	1.000	D	2.955	M	2.18	T	-0.775	T	0.149	T	0.872	4.765	26.7	5.31	2.151	8.410	14.734	0.468	0.0362471573919	7.7e-05	.	2.477e-05	0	0	0	0	3.002e-05	0.0011	0	1.94e-05	3	154602	rs377017737	1.105e-05	1.095e-05	1.101e-05	1.11e-05	0.0002	6.54e-06	5.3e-06	3.12e-06	2.26e-06	0	2.302e-05	0	0	0	0.0002	7.262e-06	8.342e-05	1.18e-05	3.942e-05	3.94e-05	3.853e-05	4.034e-05	6.541e-05	1.715e-05	1.129e-05	7.99e-06	2.99e-06	4.823e-05	0	6.541e-05	0	0	0	0	2.941e-05	0.0005	0	0.002	0.72154	D	0.0	0.92824	D	0.97	0.56973	D	0.833	0.59784	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.18	0.18875	T	-5.02	0.82511	D	0.862	0.85872	-0.7748	0.56592	T	0.149	0.47593	T	10	0.8218818	0.81387	D	0.036247	0.56869	D	0.468	0.76289	.	.	0.231231049324	0.22751	0.6448640389898748	0.64421	0.00474413316068	0.00415	0.606364667416	0.53803	T	0.143381	0.47946	T	0.0787643	0.61895	D	0.0575099	0.74080	D	0.791095316410065	0.45762	D	0.872113	0.57861	D	0.8641107	0.88401	0.66029686	0.80098	0.8641107	0.88402	0.66029686	0.80099	-7.075	0.54580	T	.	.	0.663	0.71431	P	.	.	4.876855	0.79940	27.2	0.99288743886322928	0.58184	0.99365	0.95074	D	AEFBI	0.884730	0.81467	D	0.808652765589943	0.86645	8.952101	0.770172436804184	0.87653	9.297578	0.99999891179551	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	8.486000	0.90295	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	14.734	0.69018	838	0.37812	Pumilio homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	37	chr9	2831266	.	A	T	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.341e+00;DP=881;ExcessHet=0.0000;FS=0.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=0.407;SOR=0.797	GT:AD:DP:GQ:PL	0/1:57,38:95:99:815,0,1530	20	0	1	0
chr9	4118388	4118388	G	A	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.C625T:p.P209S	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	308470	Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|Monogenic_diabetes|not_provided	MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.697	N	1.000	N	-1.645	N	3.04	T	-0.924	T	0.004	T	0.113	-1.951	0.007	2.16	0.147	1.221	7.604	0.068	0.0038800402016	.	0.00219649	0.0025	0.0010	0.0042	0	0.0004	0.0035	0.0040	0.0007	0.0014812	229	154602	rs143056249	0.0020	0.0020	0.0020	0.0020	0.0023	0.0019	0.0019	0.0023	0.0022	0.0002	0.0020	7.7e-05	0	8.808e-05	0.0023	0.0023	0.0022	0.0006	0.0017	0.0017	0.0017	0.0017	0.0039	0.0015	0.0015	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0003	0.0068	0.0025	0.0024	0.0006	0.83	0.02928	T	0.718	0.06284	T	0.0	0.02946	B	0.0	0.04355	B	0.697453	0.10122	N	0.803093	0.999983	0.18198	N	-0.64	0.02118	N	3.04	0.08898	T	0.47	0.03090	N	0.074	0.04913	-0.9240	0.44999	T	0.004	0.01400	T	10	0.004603833	0.00096	T	0.00388	0.09117	T	0.068	0.19811	.	.	0.38225645794	0.37833	0.194961217048772	0.19414	0.0260877877061	0.02663	0.29513540864	0.09677	T	0.024397	0.18443	T	-0.679831	0.00048	T	-0.754234	0.03323	T	0.0047045980365711	0.00050	T	0.660434	0.26965	T	0.023002176	0.01004	0.0446427	0.05830	0.026016003	0.01606	0.041737553	0.04812	-4.121	0.25599	T	.	.	0.066	0.02118	B	.;.	.;.	0.958715	0.13353	9.855	0.22977797875136988	0.00950	0.27591	0.23320	N	AEFDBI	0.103515	0.20737	N	-1.02634273265923	0.08060	0.3765955	-0.852634052249633	0.13224	0.6848539	0.999982086031212	0.51787	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.63	2.16	0.26663	1.242000	0.32358	0.637000	0.20283	0.676000	0.76740	0.998000	0.41325	0.011000	0.20116	0.111000	0.18785	0.3448:0.557:0.0982:0.0	7.604	0.27260	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	4656.9	44	chr9	4118388	.	G	A	4656.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.70;DP=926;ExcessHet=0.0082;FS=1.919;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=21.97;ReadPosRankSum=0.831;SOR=0.897	GT:AD:DP:GQ:PL	0/1:32,37:69:99:1047,0,934	18	1	2	0
chr9	4286209	4286209	T	C	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_001042413:exon2:c.A217G:p.N73D,	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.493	P	0.298	B	.	.	1.000	N	0.55	N	2.72	T	-1.026	T	0.028	T	0.052	2.123	13.06	4.61	0.995	2.585	8.817	0.053	0.00970880780032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0002	1e-06	7.3e-07	.	.	2.987e-05	0	0	0	0	0.0002	8.993e-07	3.311e-05	0	1.314e-05	1.313e-05	1.284e-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	0.033	0.44358	D	0.675	0.06205	T	0.045	0.21781	B	0.022	0.19653	B	.	.	.	.	0.986159	0.24643	N	.	.	.	2.72	0.11947	T	-0.23	0.44284	N	0.423	0.46274	-1.0263	0.21658	T	0.028	0.11971	T	9	0.12390208	0.23527	T	0.009709	0.25359	T	0.053	0.14996	0.098	0.01383	0.536194329819	0.53270	0.07298867225001324	0.07235	0.0292635584544	0.03013	0.312239825726	0.12245	T	0.066634	0.32996	T	-0.339598	0.05416	T	-0.725586	0.04531	T	0.554369449615479	0.34641	D	0.441056	0.14261	T	.	.	.	.	.	.	.	.	-4.105	0.25364	T	.	.	0.100	0.17488	B	.;.;.	.;.;.	2.707732	0.35383	19.88	0.98692508694862335	0.44780	0.79882	0.39674	D	AEFDBI	0.139127	0.26063	N	-0.312326626640875	0.28678	1.583867	-0.164186026578654	0.32866	1.874132	0.999990047896874	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.75	4.61	0.56724	2.582000	0.45751	2.378000	0.32469	-0.133000	0.13014	1.000000	0.71638	0.998000	0.33993	0.727000	0.35000	0.0:0.1469:0.0:0.8531	8.817	0.34159	898	0.25240	.;.;.	.	.	.	.	.	Uncertain significance	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	1552.98	47	chr9	4286209	.	T	C	1552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.180e-01;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.18;SOR=0.689	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1567,0,2078	20	0	1	0
chr9	6553379	6553379	C	T	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon20:c.G2446A:p.A816T,	Glycine encephalopathy, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	524876	not_provided|Non-ketotic_hyperglycinemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.941	P	0.662	P	0.000	D	1.000	D	1.485	L	-5.03	D	0.999	D	0.929	D	0.376	4.427	23.5	4.84	2.406	5.765	18.316	0.668	0.137532005909	.	.	4.948e-05	0	0.0002	0	0	3e-05	0	0.0001	4.53e-05	7	154602	rs775834004	4.173e-05	4.173e-05	3.539e-05	4.813e-05	0.0002	3.311e-05	3.001e-05	0.0001	0.0001	2.987e-05	0.0002	0	0	0	0.0002	3.597e-05	8.28e-05	3.478e-05	7.23e-05	7.224e-05	7.71e-05	6.727e-05	0.0004	3.972e-05	3.128e-05	0.0002	0.0001	2.413e-05	0	0.0004	0	0	0	0	5.881e-05	0	0	0.199	0.20456	T	0.268	0.22494	T	0.941	0.52883	P	0.662	0.52860	P	0.000042	0.53742	D	0.160176	1	0.81001	D	1.645	0.42016	L	-5.03	0.98578	D	-2.34	0.51811	N	0.572	0.59478	0.999	0.97173	D	0.929	0.97659	D	10	0.4821699	0.60496	T	0.137532	0.82003	D	0.668	0.87674	0.477	0.55502	0.991686033947	0.99159	0.9015927798796813	0.90131	0.0464376371656	0.05045	0.615137934685	0.55042	T	0.469484	0.80300	T	-0.00285354	0.51260	T	0.0131705	0.71187	D	0.521986246109009	0.33438	D	0.959504	0.84855	D	0.44623506	0.63802	0.20249479	0.44281	0.44623506	0.63803	0.20249479	0.44280	-4.787	0.34440	T	0.2186470814143846	0.29448	0.122	0.37969	B	.;.;.;.	.;.;.;.	4.952621	0.81823	27.6	0.99855771806047944	0.93458	0.89274	0.49640	D	AEFGBCI	0.748147	0.68999	D	0.47454813086328	0.65610	4.844004	0.505585728362041	0.68365	5.210074	0.999999999680182	0.74766	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.375	0.06713	1	.	.	4.84	4.84	0.62125	5.840000	0.69113	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.316	0.90160	768	0.49510	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3938.98	33	chr9	6553379	.	C	T	3938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=1021;ExcessHet=0.0000;FS=0.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-5.800e-02;SOR=0.736	GT:AD:DP:GQ:PL	0/1:164,157:323:99:3953,0,4024	20	0	1	0
chr9	7799707	7799707	C	G	exonic	DMAC1	.	nonsynonymous SNV	DMAC1:NM_001318058:exon1:c.G28C:p.E10Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.005	B	0.009	B	0.457	N	1.000	N	0.68	N	0.47	T	-1.027	T	0.087	T	0.082	1.493	10.94	2.59	0.788	0.830	7.635	0.019	0.0172210116179	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183976274	7.059e-07	6.84e-07	0	1.427e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.705e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.183	0.29153	T	0.001	0.07471	B	0.009	0.14300	B	0.457234	0.12435	N	0.692684	1	0.08975	N	.	.	.	0.47	0.56114	T	-1.25	0.31576	N	0.091	0.06990	-1.0269	0.21462	T	0.087	0.33857	T	10	0.062076807	0.07881	T	0.017221	0.38829	T	0.019	0.03383	0.185	0.09388	0.0551355673512	0.04727	0.45103197791192173	0.45021	0.186055020568	0.20911	.	.	.	.	.	.	-0.320285	0.06874	T	-0.577863	0.14737	T	0.04542671790666	0.04679	T	0.265573	0.04334	T	.	.	.	.	.	.	.	.	-3.674	0.18935	T	.	.	0.092	0.13362	B	.	.	1.434779	0.18534	13.79	0.7929244831508756	0.12676	0.12226	0.17138	N	ALL	0.151338	0.27580	N	-1.08704782395038	0.06881	0.3180431	-1.07433527599372	0.08207	0.4025589	0.99999999998545	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.48	2.59	0.30091	0.992000	0.29268	0.102000	0.14662	-0.307000	0.06116	0.013000	0.18845	0.002000	0.18203	0.000000	0.00833	0.1883:0.6301:0.1815:0.0	7.635	0.27431	963	0.08280	.	.	.	.	.	.	Uncertain significance	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	842.98	36	chr9	7799707	.	C	G	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=824;ExcessHet=0.0000;FS=4.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.009e+00;SOR=0.307	GT:AD:DP:GQ:PL	0/1:30,34:64:99:857,0,712	20	0	1	0
chr9	17394898	17394898	G	A	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.G2444A:p.R815K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.774	P	0.296	B	.	.	1.000	N	1.95	M	2.54	T	-1.054	T	0.034	T	0.072	-0.839	0.576	4.11	0.856	1.083	2.168	0.051	0.00555132211887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.959	0.02555	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.43	0.70455	M	2.28	0.17271	T	-0.23	0.10656	N	0.063	0.03502	-1.0542	0.13251	T	0.034	0.14509	T	9	0.048118144	0.04220	T	0.005551	0.14319	T	0.051	0.14325	0.175	0.08135	0.0138822411134	0.00435	0.08290319736704431	0.08225	.	.	0.254007339478	0.04202	T	.	.	.	-0.295442	0.09096	T	-0.662159	0.08121	T	0.156047766135084	0.17575	T	0.545245	0.18642	T	.	.	.	.	.	.	.	.	-2.256	0.04321	T	.	.	0.087	0.11317	B	.	.	0.662919	0.10314	7.044	0.82669416985350519	0.14313	0.11488	0.16667	N	AEFBI	0.197634	0.32454	N	-0.557201951319926	0.20259	1.066638	-0.555495126006756	0.20660	1.114103	0.999914629383495	0.45857	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	4.11	0.47350	1.357000	0.33694	4.081000	0.41738	0.676000	0.76740	0.006000	0.17386	1.000000	0.68203	0.450000	0.27895	0.2189:0.1324:0.5118:0.1369	2.168	0.03608	651	0.62880	.	.	.	.	.	.	Uncertain significance	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	55.98	42	chr9	17394898	.	G	A	55.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.235e+00;DP=994;ExcessHet=0.0000;FS=82.669;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=0.408;SOR=6.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,16:116:70:0|1:17394898_G_A:70,0,3424:17394898	20	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.911	P	0.563	P	.	.	1.000	N	1.7	L	2.35	T	-1.053	T	0.050	T	0.18	1.264	10.12	0.064	0.126	-0.281	2.882	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	141.71	42	chr9	17394900	.	T	C	141.71	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.459e+00;DP=1312;ExcessHet=0.3300;FS=102.575;InbreedingCoeff=-0.0775;MLEAC=3;MLEAF=0.071;MQ=59.98;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.418;SOR=9.190	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,16:116:70:0|1:17394898_G_A:70,0,3424:17394898	18	0	3	0
chr9	17457641	17457641	C	T	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon19:c.C3229T:p.R1077W	.	.	444	1073	5	0	0	5	0.0023245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.731	P	.	.	1.000	N	1.61	L	2.44	T	-1.060	T	0.087	T	0.322	3.296	17.07	4.97	2.696	2.955	14.954	0.087	0.0289274450208	0.0002	0.000199681	0.0001	0.0003	0.0002	0.0001	0.0003	9.015e-05	0	0.0002	0.0001229	19	154602	rs201619496	7.365e-05	9.371e-05	6.108e-05	8.638e-05	0.0005	6.181e-05	5.772e-05	0.0001	7.874e-05	9.868e-05	7.478e-05	0	0.0001	9.848e-05	0.0005	6.678e-05	1.753e-05	0.0001	8.56e-05	8.535e-05	9.016e-05	8.082e-05	0.0002	4.967e-05	3.97e-05	3.769e-05	2.58e-05	9.642e-05	0	6.569e-05	0	0.0002	0	0	8.839e-05	0.0005	0	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.555	0.49371	P	.	.	.	.	0.99742	0.22668	N	2.08	0.57402	M	2.18	0.18875	T	-2.12	0.48184	N	0.46	0.49692	-1.0600	0.11756	T	0.087	0.33802	T	9	0.16804591	0.31334	T	0.028927	0.51526	D	0.087	0.25287	.	.	0.181679512989	0.17746	0.09889706958721296	0.09820	.	.	0.224783584476	0.01604	T	.	.	.	-0.36083	0.04084	T	-0.461249	0.26462	T	0.129284843596376	0.15315	T	0.871813	0.57812	D	.	.	.	.	.	.	.	.	-6.777	0.52388	T	.	.	0.102	0.18122	B	.	.	4.051830	0.60059	24.2	0.99873186114976931	0.95076	0.96348	0.68700	D	AEFI	0.445716	0.50208	N	0.529261363947518	0.68830	5.271253	0.538059425540693	0.70571	5.524829	0.981360795300168	0.30253	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.97	4.97	0.65419	2.397000	0.44131	0.878000	0.22371	0.549000	0.26987	0.227000	0.24611	0.468000	0.25038	0.871000	0.41478	0.1517:0.8483:0.0:0.0	14.954	0.70744	871	0.31377	.	.	.	.	.	.	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	908.98	33	chr9	17457641	.	C	T	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.520e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.893;SOR=0.613	GT:AD:DP:GQ:PL	0/1:25,41:66:99:923,0,496	20	0	1	0
chr9	21227789	21227789	T	C	exonic	IFNA17	.	nonsynonymous SNV	IFNA17:NM_021268:exon1:c.A385G:p.M129V,	.	.	.	.	.	.	.	.	.	.	.	2345665	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.225	N	1.000	N	-2.24	N	4.07	T	-0.911	T	0.003	T	0.042	-2.381	0.004	-1.4	-0.363	-3.455	2.927	0.013	0.00357806783716	.	.	0.0001	9.634e-05	0	0	0	0.0002	0	0	0.0002523	39	154602	rs745370118	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	0	4.472e-05	7.653e-05	0.0002	1.872e-05	0	0.0003	9.937e-05	8.116e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0001	0	6.56e-05	0	0.0006	0	0	0.0003	0	0	1.0	0.00964	T	0.589	0.08245	T	0.0	0.02946	B	0.0	0.01387	B	0.225260	0.03482	N	1.507550	1	0.08975	N	-1.795	0.00292	N	4.07	0.03033	T	0.65	0.02332	N	0.018	0.00252	-0.9115	0.46670	T	0.003	0.00800	T	10	0.02384451	0.00636	T	0.003578	0.08185	T	0.013	0.01715	.	.	0.104622674875	0.10061	0.034959754014070636	0.03442	0.0144448951978	0.01372	0.341127723455	0.16607	T	0.02654	0.19616	T	-0.62889	0.00097	T	-0.892825	0.00554	T	0.0321320985298466	0.02327	T	0.166283	0.01543	T	0.043220736	0.06695	0.05344747	0.09004	0.043220736	0.06695	0.05344747	0.09003	-2.598	0.06489	T	.	.	0.054	0.00354	B	.	.	-1.655086	0.00214	0.003	0.4310417864052602	0.03222	0.00035	0.00307	N	AEFI	0.010945	0.00087	N	-1.9267738749926	0.00302	0.01297972	-1.8683961393311	0.00564	0.02503632	1.98649077868997E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.76	-1.4	0.08499	-4.604000	0.00242	.	.	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1513:0.3652:0.3682:0.1153	2.927	0.05432	835	0.38313	.	.	.	.	.	.	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	1677.98	41	chr9	21227789	.	T	C	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=10.55;DP=3375;ExcessHet=0.0000;FS=9.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.46;MQRankSum=-1.466e+01;QD=5.41;ReadPosRankSum=0.121;SOR=1.254	GT:AD:DP:GQ:PL	0/1:237,73:310:99:1692,0,6229	20	0	1	0
chr9	34256128	34256129	AC	-	exonic	KIF24	.	frameshift deletion	KIF24:NM_194313:exon11:c.3478_3479del:p.V1160Tfs*9,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	.	3.346e-05	0.0003	0	0	0	0	0	6.431e-05	2.59e-05	4	154602	rs762729415	1.03e-05	1.026e-05	1.091e-05	9.673e-06	0.0002	6.18e-06	4.9e-06	7.73e-05	5.317e-05	0.0002	2.242e-05	0	0	1.874e-05	0	4.512e-06	1.664e-05	1.161e-05	5.913e-05	5.91e-05	7.707e-05	4.035e-05	0.0002	3.077e-05	2.21e-05	0.0001	8.451e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4062.94	34	chr9	34256127	.	TAC	T	4062.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=864;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.83;ReadPosRankSum=-1.980e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:75,103:178:99:4077,0,2813	20	0	1	0
chr9	35562551	35562551	C	T	exonic	FAM166B	.	nonsynonymous SNV	FAM166B:NM_001164310:exon5:c.G568A:p.A190T,	.	.	.	.	.	.	.	.	.	.	.	3419173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.771	P	0.479	U	0.957	D	1.87	L	0.89	T	-0.895	T	0.220	T	0.559	3.258	16.93	5.12	2.518	2.333	14.404	0.218	0.0314797732491	0.0002	0.000199681	0.0001	0.0012	0	0.0003	0	0	0	0	5.17e-05	8	154602	rs370211215	1.811e-05	1.984e-05	1.795e-05	1.827e-05	0.0002	1.26e-05	1.071e-05	9.915e-05	7.056e-05	0.0002	9.952e-05	0	0.0002	0	0	1.819e-06	8.39e-05	1.22e-05	0.0003	0.0003	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	0.054	0.38633	T	0.304	0.20100	T	0.994	0.66517	D	0.771	0.56890	P	0.478668	0.04968	U	1.858690	0.956719	0.37988	D	2.19	0.61577	M	0.89	0.45636	T	-2.09	0.47683	N	0.516	0.54671	-0.8947	0.48512	T	0.220	0.58345	T	10	0.1764125	0.32624	T	0.03148	0.53550	D	0.218	0.51265	.	.	0.420322003156	0.41653	0.4568048506430784	0.45598	0.26318994308	0.28875	0.538396835327	0.44219	T	0.013074	0.11376	T	-0.36606	0.03799	T	-0.354944	0.38638	T	0.144023006353811	0.16616	T	0.783822	0.42110	T	0.11753091	0.27705	0.15865447	0.37039	0.11753091	0.27705	0.15865447	0.37038	-9.012	0.67775	D	.	.	0.188	0.40489	B	.	.	3.445403	0.47949	22.5	0.9977580647052714	0.86346	0.79265	0.39245	D	AEFDBCI	.	.	.	0.54067634691976	0.69516	5.368058	0.532480828952919	0.70187	5.468625	0.999999920990033	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	2.370000	0.43893	3.277000	0.37202	0.599000	0.40250	0.973000	0.34540	1.000000	0.68203	0.246000	0.23158	0.0:1.0:0.0:0.0	14.404	0.66638	203	0.92088	.	.	.	.	.	.	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	1665.98	100	chr9	35562551	.	C	T	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=1142;ExcessHet=0.0000;FS=3.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.032;SOR=0.521	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1680,0,1363	20	0	1	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	0/2:21,0,22,0,0,0:43:99:.:.:772,837,1638,0,801,736,837,1638,801,1638,837,1638,801,1638,1638,837,1638,801,1638,1638,1638	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	0/2:21,0,22,0,0,0:43:99:.:.:772,837,1638,0,801,736,837,1638,801,1638,837,1638,801,1638,1638,837,1638,801,1638,1638,1638	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	0/2:21,0,22,0,0,0:43:99:.:.:772,837,1638,0,801,736,837,1638,801,1638,837,1638,801,1638,1638,837,1638,801,1638,1638,1638	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	0/2:21,0,22,0,0,0:43:99:.:.:772,837,1638,0,801,736,837,1638,801,1638,837,1638,801,1638,1638,837,1638,801,1638,1638,1638	13	1	1	0
chr9	37489336	37489336	C	G	exonic	POLR1E	.	nonsynonymous SNV	POLR1E:NM_022490:exon4:c.C279G:p.N93K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.988	D	0.832	P	0.000	D	1.000	D	2.095	M	1.62	T	-0.973	T	0.123	T	0.425	2.964	15.88	0.218	0.119	-0.050	10.641	0.185	0.013337967469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.090274	0.75164	0.81001	D	2.62	0.76659	M	1.62	0.28189	T	-3.75	0.71157	D	0.65	0.68255	-0.9726	0.36648	T	0.123	0.42652	T	10	0.8444456	0.83607	D	0.013338	0.32667	T	0.185	0.45933	0.812	0.92788	0.40146981186	0.39757	0.6423543505851437	0.64170	0.384708731815	0.39768	0.75103533268	0.74599	T	.	.	.	-0.0998291	0.36453	T	-0.381174	0.35583	T	0.989948987960815	0.80162	D	0.725927	0.34027	T	0.48704213	0.66326	0.3882944	0.63676	0.48704213	0.66327	0.3882944	0.63676	-7.1	0.54760	T	.	.	0.720	0.75136	P	.;.	.;.	2.095361	0.26658	17.19	0.99448054155431087	0.65122	0.85173	0.44283	D	AEFBI	0.243116	0.36445	N	0.108449812454741	0.46857	2.919724	0.0473112038025857	0.41941	2.528377	0.999618210597924	0.40981	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.27	0.218	0.14546	0.137000	0.15816	-0.141000	0.11517	0.596000	0.33519	0.977000	0.34929	0.531000	0.25362	0.999000	0.91618	0.0:0.6476:0.0:0.3524	10.641	0.44784	592	0.68746	.;.	.	.	.	.	.	Uncertain significance	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	1126.98	47	chr9	37489336	.	C	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.511;DP=1050;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=1.48;SOR=0.722	GT:AD:DP:GQ:PL	0/1:90,54:144:99:1141,0,2142	20	0	1	0
chr9	81993268	81993268	C	T	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C2798T:p.A933V,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.796	P	0.119	B	0.007	N	1.000	N	0.55	N	3.41	T	-0.985	T	0.010	T	0.284	2.851	15.50	-1.5	-0.385	0.043	4.367	0.065	0.000891829550146	.	.	8.302e-05	0	0	0.0005	0	0	0	0.0004	6.47e-05	10	154602	rs776906027	2.942e-05	3.01e-05	1.906e-05	3.988e-05	0.0003	2.217e-05	1.97e-05	0.0002	0.0001	2.987e-05	0	0.0002	0.0002	0	0.0003	1.799e-06	4.969e-05	0.0003	6.571e-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	0.097	0.30943	T	0.039	0.51112	D	0.796	0.44790	P	0.119	0.32162	B	0.006634	0.01133	N	3.544070	1	0.08975	N	0.805	0.20218	L	3.41	0.05574	T	-1.03	0.27052	N	0.154	0.15888	-0.9848	0.33879	T	0.010	0.03811	T	10	0.062103212	0.07889	T	8.92E-4	0.00822	T	0.065	0.18881	0.502	0.59460	0.0611884634855	0.05136	0.021688346452125702	0.02120	.	.	0.359604209661	0.19328	T	0.004234	0.03640	T	-0.492842	0.00627	T	-0.641162	0.09584	T	0.0288922212935638	0.01821	T	0.326667	0.06741	T	0.03349675	0.03579	0.04057937	0.04419	0.03349675	0.03579	0.04057937	0.04419	-4.38	0.29285	T	.	.	0.099	0.16713	B	.	.	0.638508	0.10067	6.818	0.90732681505056945	0.19983	0.00535	0.02472	N	AEFI	0.020026	0.00751	N	-1.23594104419202	0.04488	0.202678	-1.3727291051543	0.03545	0.1655897	1.7590448860922E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.99	-1.5	0.08233	0.110000	0.15273	-1.016000	0.06596	-1.895000	0.00529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.396:0.4076:0.0:0.1964	4.367	0.10665	922	0.19044	.	.	.	.	.	.	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	1357.98	38	chr9	81993268	.	C	T	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.450e-01;DP=1364;ExcessHet=0.0000;FS=2.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-2.548e+00;SOR=0.525	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1372,0,1317	20	0	1	0
chr9	83784720	83784720	G	A	exonic	GKAP1	.	nonsynonymous SNV	GKAP1:NM_001135953:exon6:c.C557T:p.S186L	.	.	575	942	4	1	0	6	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.018	B	0.006	B	0.014	N	0.532	D	0.345	N	.	.	-1.010	T	0.060	T	0.149	0.837	8.380	4.23	1.110	3.366	8.019	0.032	0.00193864225079	0.0004	0.000599042	0.0005	0	8.646e-05	0	0	0.0004	0	0.0020	0.0004334	67	154602	rs141041688	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	9.362e-05	0.0003	0.0013	2.571e-05	0.0002	0.0012	0.0001	0.0004	0.0021	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0007	0.0012	0	0.0002	0.0034	0.0002	0.0009	0.0019	0.428	0.09600	T	0.271	0.22291	T	0.018	0.17786	B	0.006	0.12133	B	0.014209	0.28601	N	0.422777	0.532094	0.31984	D	1.12	0.28775	L	.	.	.	-1.51	0.36787	N	0.284	0.32148	-1.0105	0.26760	T	0.060	0.24981	T	9	0.0071997046	0.00164	T	0.001939	0.03456	T	0.032	0.07718	.	.	0.207176502487	0.20327	0.10510204983775931	0.10440	0.0609194115591	0.06777	0.476411283016	0.35563	T	0.063618	0.32222	T	-0.482516	0.00715	T	-0.484892	0.23928	T	0.0163831568438932	0.00406	T	0.79842	0.44325	T	0.056384657	0.11086	0.065751374	0.13373	0.056384657	0.11085	0.065751374	0.13373	-3.394	0.30136	T	.	.	0.075	0.06250	B	.;.	.;.	2.997878	0.40049	21.1	0.8837635410603174	0.17928	0.79943	0.39717	D	AEFBI	0.311818	0.41744	N	-0.449051745403263	0.23772	1.278955	-0.250068929494993	0.29769	1.670555	0.0461011035521553	0.14677	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.15	4.23	0.49319	3.733000	0.54753	7.992000	0.76116	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0876:0.1697:0.7427:0.0	8.019	0.29561	978	0.04198	.;.	.	.	.	.	.	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	1458.98	36	chr9	83784720	.	G	A	1458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.650e-01;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=1.16;SOR=0.639	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1473,0,1521	20	0	1	0
chr9	86035616	86035616	T	C	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon8:c.A767G:p.N256S	.	.	442	1076	3	1	0	5	0.00231803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.004	B	0.007	B	0.200	N	1.000	N	1.445	L	1.06	T	-1.016	T	0.067	T	0.014	1.106	9.514	0.787	0.040	0.125	3.923	0.068	0.00563202042326	0.0005	.	0.0003	0.0011	8.706e-05	0.0006	0	0.0003	0.0011	0	0.0002846	44	154602	rs148028742	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	0.0005	2.236e-05	0.0034	0.0002	0	0.0047	0.0001	0.0004	6.961e-05	0.0004	0.0004	0.0004	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0	0.0032	0.0002	0	0.0068	0.0003	0	0	0.149	0.24758	T	0.445	0.13140	T	0.004	0.12183	B	0.007	0.12992	B	0.200057	0.16623	N	0.648332	0.999999	0.08975	N	2.015	0.55033	M	1.06	0.39781	T	-1.69	0.40274	N	0.121	0.11197	-1.0160	0.25013	T	0.067	0.27468	T	10	0.0056729913	0.00126	T	0.005632	0.14560	T	0.068	0.19811	.	.	0.362960570912	0.35913	0.08601094802748246	0.08535	0.42604554479	0.42993	0.292014539242	0.09216	T	0.085685	0.37556	T	-0.595674	0.00155	T	-0.712694	0.05157	T	0.0032839411282092	0.00035	T	0.654835	0.26514	T	0.026163995	0.01640	0.031070549	0.01645	0.026163995	0.01639	0.031070549	0.01645	-2.971	0.09872	T	.	.	0.068	0.02829	B	.;.	.;.	0.714782	0.10837	7.516	0.98111084014264727	0.38351	0.08554	0.14467	N	AEFDBCI	0.056317	0.10403	N	-0.985208628733094	0.08919	0.4200684	-1.00855972354243	0.09596	0.4783423	0.954152607528739	0.28115	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	0.787	0.17740	0.144000	0.15956	0.305000	0.17021	-0.110000	0.15115	0.123000	0.23227	0.076000	0.22303	0.002000	0.04165	0.0:0.1962:0.1833:0.6205	3.923	0.08751	930	0.16408	.;.	.	.	.	.	.	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	1350.98	33	chr9	86035616	.	T	C	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=798;ExcessHet=0.0000;FS=1.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=1.26;SOR=0.495	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1365,0,1233	20	0	1	0
chr9	89038160	89038160	C	T	exonic	SHC3	.	nonsynonymous SNV	SHC3:NM_016848:exon11:c.G1489A:p.E497K,	.	.	426	1091	5	0	0	5	0.00228624	.	.	723650	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.928	P	0.136	B	0.000	N	1.000	D	2.285	M	-0.06	T	-0.708	T	0.186	T	0.265	1.865	12.19	3.33	0.889	4.737	11.977	0.252	0.0654973775711	0.0025	0.000599042	0.0035	0.0005	0.0003	0	0.0039	0.0043	0.0055	0.0057	0.00326	504	154602	rs149700558	0.0032	0.0032	0.0030	0.0033	0.0060	0.0031	0.0031	0.0056	0.0054	0.0005	0.0004	0.0003	0	0.0034	0.0016	0.0033	0.0024	0.0060	0.0022	0.0022	0.0021	0.0022	0.0036	0.0020	0.0019	0.0032	0.0031	0.0005	0	0.0005	0.0003	0.0004	0.0034	0	0.0036	0.0019	0.0033	0.001	0.78490	D	0.046	0.49942	D	0.928	0.51611	P	0.136	0.33270	B	0.000011	0.62929	N	0.113920	0.99997	0.53665	D	3.005	0.85968	M	-0.06	0.63568	T	-2.93	0.69714	D	0.3	0.33904	-0.7080	0.60051	T	0.186	0.53556	T	10	0.009997219	0.00224	T	0.065497	0.69595	D	0.252	0.56159	.	.	0.722683262886	0.72023	0.6451715599604749	0.64452	0.621399424811	0.56427	0.478847950697	0.35898	T	0.539416	0.84202	D	-0.351491	0.04633	T	-0.273943	0.47421	T	0.07195262147852	0.08922	T	0.811819	0.46320	T	0.3401257	0.56290	0.38423848	0.63369	0.3401257	0.56290	0.38423848	0.63369	-10.772	0.78393	D	.	.	0.235	0.55971	B	.;.	.;.	3.323778	0.45721	22.2	0.99191509467369188	0.54994	0.88925	0.49095	D	AEFDBI	0.456731	0.50847	N	-0.0526403030547023	0.39485	2.329198	-0.0913771089838705	0.35745	2.07171	0.999999165894088	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.653264	0.51672	0	0.669	0.65921	0	.	.	5.15	3.33	0.37245	5.003000	0.63708	4.723000	0.44515	-0.233000	0.07663	1.000000	0.71638	1.000000	0.68203	0.038000	0.14061	0.0:0.8598:0.0:0.1402	11.977	0.52385	922	0.19044	SH2 domain|SH2 adaptor protein C, SH2 domain;SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	39	chr9	89038160	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=823;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.753;SOR=0.597	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1220,0,1345	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	0/1:204,147:378:99:797,0,3147	0	0	21	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	2/3:0,0,27,22,0,0:49:99:2058,2024,2055,926,927,831,1047,1102,0,1067,2024,2055,927,1102,2055,2024,2055,927,1102,2055,2055	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	2/3:0,0,27,22,0,0:49:99:2058,2024,2055,926,927,831,1047,1102,0,1067,2024,2055,927,1102,2055,2024,2055,927,1102,2055,2055	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	2/3:0,0,27,22,0,0:49:99:2058,2024,2055,926,927,831,1047,1102,0,1067,2024,2055,927,1102,2055,2024,2055,927,1102,2055,2055	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	2/3:0,0,27,22,0,0:49:99:2058,2024,2055,926,927,831,1047,1102,0,1067,2024,2055,927,1102,2055,2024,2055,927,1102,2055,2055	1	2	3	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,13:14:40:.:.:578,579,581,40,40,0	2	0	1	0
chr9	100226198	100226198	T	C	exonic	INVS	.	nonsynonymous SNV	INVS:NM_014425:exon4:c.T410C:p.M137T	Nephronophthisis 2, infantile, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1028762	Nephronophthisis|not_provided	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.387	B	0.137	B	0.000	D	1.000	D	0.145	N	-0.04	T	-0.891	T	0.146	T	0.618	2.417	14.04	5.6	2.124	6.002	14.364	0.185	0.0221506676257	7.7e-05	.	5.011e-05	0	0.0002	0	0	0	0	0.0002	4.53e-05	7	154602	rs375209595	2.189e-05	2.189e-05	1.77e-05	2.613e-05	0.0005	1.584e-05	1.356e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	1.349e-05	6.623e-05	9.279e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.172	0.22660	T	0.279	0.21745	T	0.387	0.34533	B	0.137	0.33328	B	0.000000	0.84330	D	0.073552	0.999994	0.58761	D	-0.415	0.02918	N	-0.04	0.63240	T	-1.76	0.41618	N	0.487	0.52119	-0.8913	0.48820	T	0.146	0.47056	T	10	0.1903179	0.34670	T	0.022151	0.45008	T	0.185	0.45933	.	.	0.819536947123	0.81783	0.6037160227610963	0.60302	0.26696937501	0.29234	0.78254199028	0.79312	T	0.178076	0.52859	T	-0.182277	0.23397	T	-0.207456	0.53938	T	0.0856195493000292	0.10690	T	0.764923	0.39208	T	0.257446	0.48789	0.30357638	0.56388	0.257446	0.48789	0.30357638	0.56387	-9.074	0.69153	D	.	.	0.703	0.73083	P	.;.	.;.	3.035858	0.40681	21.2	0.94457779696080502	0.24894	0.97187	0.73202	D	AEBI	0.636665	0.61573	D	-0.0121139789914296	0.41308	2.468411	0.199112561042837	0.49800	3.178845	0.999937987880033	0.46732	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	5.983000	0.70222	5.073000	0.47196	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.364	0.66358	557	0.71576	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	1	0	0	0	0	0	0	0.02381	625.98	35	chr9	100226198	.	T	C	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.643;DP=782;ExcessHet=0.0000;FS=5.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-1.526e+00;SOR=1.269	GT:AD:DP:GQ:PL	0/1:29,27:56:99:640,0,687	20	0	1	0
chr9	100450872	100450872	A	G	exonic	MSANTD3	.	nonsynonymous SNV	MSANTD3:NM_001198805:exon3:c.A734G:p.N245S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.88	P	0.636	P	.	.	1.000	D	0	N	.	.	-0.887	T	0.132	T	0.082	3.888	19.77	6.07	2.326	6.315	15.822	0.112	0.00521702868556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362646714	2.052e-06	2.052e-06	4.084e-06	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.88	0.48402	P	0.636	0.51948	P	.	.	.	.	0.741162	0.81001	D	0.895	0.22405	L	.	.	.	-0.72	0.20358	N	0.407	0.44761	-0.8866	0.49223	T	0.132	0.44307	T	8	0.31870693	0.49265	T	0.005217	0.13310	T	0.112	0.31546	0.164	0.06842	0.299086750705	0.29526	0.05694255272509079	0.05635	0.72451315937	0.62398	.	.	.	0.186937	0.54039	T	-0.119128	0.33268	T	-0.408895	0.32353	T	0.706133630117537	0.41012	D	0.865913	0.56597	D	0.1777556	0.38759	0.23110819	0.48233	0.1777556	0.38758	0.23110819	0.48232	-4.167	0.26272	T	.	.	0.165	0.38245	B	.;.;.	.;.;.	3.781665	0.54376	23.5	0.99874440985220003	0.95160	0.97018	0.72215	D	AEFBI	0.745902	0.68843	D	0.392461544096541	0.61014	4.296905	0.518495384840361	0.69234	5.331591	0.999999971169579	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.325000	0.72861	11.184000	0.88420	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.822	0.78430	312	0.87382	.;.;.	.	.	.	.	.	Uncertain significance	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	1408.98	34	chr9	100450872	.	A	G	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.093;DP=800;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=15.15;ReadPosRankSum=1.22;SOR=0.648	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1423,0,1181	20	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.977	D	0.002	N	0.528	D	1.87	L	0.88	T	-0.548	T	0.199	T	0.636	0.801	8.213	4.73	1.367	2.869	8.596	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1628.87	70	chr9	110137052	.	G	C	1628.87	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-2.866e+00;DP=1349;ExcessHet=3.5521;FS=192.403;InbreedingCoeff=-0.3771;MLEAC=10;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.60;ReadPosRankSum=0.889;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,15:74:43:0|1:110137052_G_C:43,0,1914:110137052	6	0	8	7
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|1:161,79:240:99:0|1:114406374_C_G:984,0,4594:114406374	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|1:161,79:240:99:0|1:114406374_C_G:984,0,4594:114406374	9	0	10	2
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:47,12,18:77:99:.:.:189,205,939,0,683,717	3	0	11	1
chr9	128713184	128713184	G	A	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon7:c.G968A:p.R323Q	.	.	395	1125	1	0	1	2	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.214	B	0.02	B	.	.	1.000	N	0.345	N	2.0	T	-0.991	T	0.021	T	0.126	0.489	6.655	-1.08	0.177	1.025	3.063	0.013	0.00478471824163	.	.	0.0003	0	0.0023	0	0	1.576e-05	0	0.0002	0.000194	30	154602	rs758462075	5.362e-05	5.336e-05	6.281e-05	4.43e-05	0.0013	4.365e-05	4.037e-05	0.0010	0.0009	2.999e-05	0.0013	0	0	0	0.0002	9.034e-06	1.668e-05	8.149e-05	2.627e-05	2.626e-05	0	5.377e-05	0.0002	8.14e-06	5.14e-06	5.283e-05	2.834e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.198	0.20532	T	0.151	0.32355	T	0.214	0.30086	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.0	0.21473	T	-0.7	0.19933	N	0.132	0.12770	-0.9906	0.32449	T	0.021	0.08963	T	9	0.00939393	0.00212	T	0.004785	0.11941	T	0.013	0.01715	0.315	0.29096	0.119812018005	0.11559	0.3125410359613213	0.31167	0.308903704434	0.33204	0.236208230257	0.02458	T	0.128668	0.45647	T	-0.586944	0.00175	T	-0.640509	0.09631	T	0.0130417247885186	0.00227	T	0.79582	0.43907	T	0.028252127	0.02134	0.04511777	0.05999	0.028252127	0.02134	0.04511777	0.05999	-4.27	0.27754	T	.	.	0.073	0.04599	B	.	.	2.535133	0.32784	19.15	0.92579421733820233	0.22036	0.41582	0.26689	N	AEFDBI	0.060144	0.11409	N	-0.859358377319942	0.11820	0.5725707	-0.853533153108518	0.13203	0.6836297	0.912491858278012	0.26397	0.712529	0.81865	0	0.694456	0.67091	0	0.635938	0.45252	0	0.635551	0.53088	0	.	.	5.24	-1.08	0.09428	0.184000	0.16748	4.004000	0.41101	0.676000	0.76740	0.005000	0.17040	0.882000	0.27718	0.624000	0.32000	0.101:0.1312:0.3676:0.4002	3.063	0.05832	0	0.99858	.	.	.	.	.	.	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	1318.98	34	chr9	128713184	.	G	A	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=803;ExcessHet=0.0000;FS=1.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-2.920e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1333,0,1173	20	0	1	0
chr9	130375668	130375668	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon50:c.C7736T:p.S2579F,	.	.	502	1017	3	0	0	3	0.00147275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs554536219	2.519e-05	2.394e-05	3.121e-05	1.818e-05	0.0010	1.618e-05	1.373e-05	0.0007	0.0005	0	0	0	0	0	0	1.312e-06	0.0001	0.0010	6.565e-05	6.561e-05	3.854e-05	9.398e-05	0.0021	3.513e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.35194	.	.	.	.	.	.	.	0.0317083	0.01310	T	.	.	.	.	.	.	.	0.413113201963	0.40925	0.08875095698361245	0.08808	.	.	.	.	.	0.069743	0.33786	T	0.0568677	0.59218	T	-0.15609	0.58702	T	.	.	.	0.674133	0.28269	T	0.10456346	0.24721	0.19745094	0.43527	0.10456346	0.24720	0.19745094	0.43526	-7.052	0.54413	T	.	.	0.129	0.27642	B	.	.	3.386910	0.46878	22.4	0.86383361125716007	0.16499	0.92969	0.56995	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0450189150499904	0.14635	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.062806	0.01542	0	0.73861	0.44114	5.44	3.57	0.40014	3.830000	0.55469	2.699000	0.34147	-0.223000	0.07921	0.994000	0.38300	0.032000	0.21310	0.971000	0.54645	0.1586:0.6794:0.0:0.162	5.708	0.17191	457	0.78953	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1349.98	34	chr9	130375668	.	C	T	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.575e+00;DP=816;ExcessHet=0.0000;FS=4.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-6.940e-01;SOR=1.005	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1364,0,1618	20	0	1	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,117,0:117:99:3475,350,0,3475,350,3475	0	17	3	0
chr9	136923953	136923953	A	G	exonic	TRAF2	.	nonsynonymous SNV	TRAF2:NM_021138:exon10:c.A1240G:p.M414V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.905	P	0.746	P	0.000	D	1.000	D	2.77	M	0.92	T	-0.648	T	0.217	T	0.633	4.026	20.6	3.7	0.879	9.069	10.403	0.343	0.0822622531809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	0.905	0.49920	P	0.746	0.55899	P	0.000000	0.84330	D	0.115717	0.999995	0.58761	D	2.59	0.75718	M	0.92	0.44461	T	-3.93	0.73267	D	0.912	0.91391	-0.6482	0.62792	T	0.217	0.57915	T	10	0.876235	0.86915	D	0.082262	0.73862	D	0.343	0.66488	0.62	0.75461	0.477934191719	0.47424	0.9491208337491038	0.94895	1.92793944721	0.93087	0.679981946945	0.64265	T	0.550193	0.84755	D	0.0473608	0.58002	T	-0.169746	0.57467	T	0.986574947834015	0.77258	D	0.932607	0.74787	D	0.81901276	0.85153	0.79930526	0.88226	0.81901276	0.85154	0.79930526	0.88227	-10.399	0.76265	D	.	.	0.625	0.69902	P	.	.	4.783163	0.77554	26.7	0.99479046687724237	0.66795	0.99677	0.98583	D	AEFGBI	0.896789	0.83824	D	0.468059479282598	0.65235	4.797051	0.460220453712247	0.65375	4.815946	0.999999316492598	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	3.7	0.41607	9.256000	0.94719	11.093000	0.85967	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9224:0.0:0.0776:0.0	10.403	0.43425	840	0.37365	MATH/TRAF domain|MATH/TRAF domain|TNF receptor-associated factor 2, MATH 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	886.98	34	chr9	136923953	.	A	G	886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=1.20;SOR=0.650	GT:AD:DP:GQ:PL	0/1:53,36:89:99:901,0,1307	20	0	1	0
chr9	136953889	136953889	G	A	exonic	LCN12	.	nonsynonymous SNV	LCN12:NM_178536:exon4:c.G373A:p.D125N,	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.339	B	0.131	B	0.004	N	1.000	N	1.525	L	2.57	T	-0.961	T	0.013	T	0.084	-0.304	2.550	-1.87	-0.489	0.199	3.442	0.044	.	0.0060	0.00299521	0.0064	0.0020	0.0052	0	0.0011	0.0100	0.005	0.0008	0.0050517	781	154602	rs45578835	0.0071	0.0071	0.0072	0.0069	0.0125	0.0070	0.0069	0.0102	0.0093	0.0015	0.0045	0.0052	0	0.0018	0.0125	0.0084	0.0065	0.0009	0.0052	0.0052	0.0062	0.0042	0.0087	0.0049	0.0048	0.0081	0.0079	0.0014	0.0011	0.0057	0.0052	0.0002	0.0015	0.0034	0.0087	0.0066	0.0015	0.459	0.08762	T	0.269	0.22426	T	0.112	0.26290	B	0.054	0.25828	B	0.003709	0.34585	N	0.000000	0.999998	0.08975	N	0.665	0.16292	N	2.57	0.13552	T	-1.65	0.39503	N	0.243	0.27435	-0.9613	0.38936	T	0.013	0.05273	T	10	0.011012107	0.00243	T	.	.	.	0.044	0.11924	.	.	0.0716867268079	0.06686	0.6027618277831336	0.60207	0.232371919152	0.25783	0.381644427776	0.22490	T	0.016536	0.13648	T	-0.677145	0.00050	T	-0.737486	0.03997	T	0.00822070585622763	0.00098	T	0.429357	0.11628	T	0.037968848	0.04970	0.034087673	0.02415	0.037968848	0.04970	0.034087673	0.02415	-4.761	0.34133	T	.	.	0.071	0.03849	B	.	.	0.804528	0.11755	8.328	0.61236164496484946	0.06659	0.00268	0.01460	N	AEFGBI	0.065064	0.12669	N	-1.60098984045406	0.01259	0.05480543	-1.69916942202197	0.01141	0.05131377	0.953254002651997	0.28063	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	2.45	-1.87	0.07317	0.225000	0.17538	1.526000	0.27126	-0.865000	0.02600	0.005000	0.17040	0.915000	0.28207	0.002000	0.04165	0.4972:0.0:0.3128:0.1901	3.442	0.07037	912	0.21483	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1223.98	43	chr9	136953889	.	G	A	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=853;ExcessHet=0.0000;FS=3.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-2.534e+00;SOR=1.106	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1238,0,1248	20	0	1	0
chr9	137020772	137020772	G	A	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon9:c.C1187T:p.P396L	.	.	.	.	.	.	.	.	.	.	.	3256945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.062	B	0.007	B	0.001	N	1.000	N	0.345	N	-2.14	D	-1.010	T	0.051	T	0.206	-0.088	3.571	1.67	0.458	-0.545	7.705	0.028	0.0958729978031	.	.	1.62e-05	0	0	0	0	3.052e-05	0	0	6.5e-06	1	154602	rs745512312	4.296e-05	4.583e-05	4.82e-05	3.765e-05	5.064e-05	3.42e-05	3.104e-05	3.998e-05	3.593e-05	0	0	0	2.56e-05	4.399e-05	0	5.064e-05	3.35e-05	1.18e-05	1.314e-05	1.313e-05	0	2.69e-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	0.144	0.25560	T	0.07	0.45530	T	0.0	0.02946	B	0.0	0.01387	B	0.001248	0.00759	N	26.783200	1	0.08975	N	0.69	0.16971	N	-2.14	0.86415	D	-0.86	0.23372	N	0.059	0.04668	-1.0104	0.26791	T	0.051	0.21533	T	10	0.10133305	0.18507	T	0.095873	0.76504	D	0.162	0.41843	0.324	0.30549	0.31316556289	0.30919	0.42254321922112514	0.42171	0.459510645001	0.45530	0.567435324192	0.48316	T	0.282301	0.65503	T	-0.0970973	0.36905	T	-0.37725	0.36043	T	0.0254539139568806	0.01332	T	0.679032	0.28770	T	0.03174712	0.03071	0.028444849	0.01081	0.03174712	0.03070	0.028444849	0.01081	-3.287	0.13660	T	.	.	0.116	0.24532	B	.;.;.;.	.;.;.;.	1.218766	0.16123	12.33	0.50155327310915754	0.04334	0.08087	0.14058	N	AEFBI	0.072642	0.14503	N	-0.687995225285053	0.16363	0.8329846	-0.779415489822789	0.14999	0.7866883	0.988277861902086	0.31460	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.86	1.67	0.23149	-0.499000	0.06494	3.290000	0.37298	-0.113000	0.14837	0.000000	0.06391	0.425000	0.24826	0.056000	0.15673	0.0728:0.2879:0.5412:0.0982	7.705	0.27814	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	1204.98	36	chr9	137020772	.	G	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e-01;DP=817;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=2.02;SOR=0.796	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1219,0,1489	20	0	1	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	0/1:100,41:141:99:219,0,1673	5	0	16	0
chr10	3103799	3103799	G	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323067:exon5:c.G394A:p.V132M	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.209	B	0.067	B	0.075	N	1.000	N	1.175	L	-1.06	T	-0.742	T	0.299	T	0.371	1.734	11.76	-1.05	-0.325	2.723	9.912	0.269	0.0253300096623	0.0002	0.000998403	0.0007	9.651e-05	0.0002	0	0	0.0003	0.0044	0.0032	0.0006015	93	154602	rs146112401	0.0004	0.0004	0.0003	0.0005	0.0121	0.0004	0.0004	0.0099	0.0090	0.0002	0.0003	0.0002	5.038e-05	0	0.0121	0.0002	0.0010	0.0027	0.0003	0.0004	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	4.811e-05	0	0.0003	0	0	0	0.0102	0.0003	0.0005	0.0046	0.028	0.46129	D	0.109	0.39799	T	0.056	0.22806	B	0.042	0.24114	B	0.075499	0.21220	N	0.527971	1	0.08975	N	0.825	0.20901	L	-1.42	0.80815	T	-0.74	0.20791	N	0.43	0.46928	-0.7415	0.58376	T	0.299	0.67055	T	10	0.010099262	0.00226	T	0.02533	0.48303	D	0.269	0.58381	.	.	0.551220473365	0.54778	0.7781756260236526	0.77767	0.204107414628	0.22826	0.375633001328	0.21637	T	0.345942	0.71426	T	-0.311447	0.07621	T	-0.223827	0.52367	T	0.0210711527292797	0.00809	T	0.878012	0.59262	D	0.116128534	0.27394	0.11530808	0.27836	0.116128534	0.27394	0.11530808	0.27835	-7.286	0.63075	T	.	.	0.087	0.23605	B	.;.;.	.;.;.	2.305516	0.29507	18.14	0.94635881000733479	0.25227	0.72336	0.35409	D	AEFDBHCI	0.220918	0.34561	N	-0.85410077104252	0.11949	0.5795959	-0.892794292565218	0.12264	0.6298464	0.999999064797912	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.591603	0.36755	0	.	.	4.32	-1.05	0.09523	2.819000	0.47749	0.168000	0.15485	-0.169000	0.11342	0.982000	0.35529	0.000000	0.08366	0.070000	0.16646	0.5331:0.0:0.4669:0.0	9.912	0.40584	982	0.03397	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	1	0	0	0	0.02381	2890.98	90	chr10	3103799	.	G	A	2890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=1881;ExcessHet=0.0000;FS=2.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=-1.498e+00;SOR=0.831	GT:AD:DP:GQ:PL	0/1:141,124:265:99:2905,0,3334	20	0	1	0
chr10	4995347	4995347	T	C	exonic	AKR1C2	.	nonsynonymous SNV	AKR1C2:NM_001321027:exon6:c.A740G:p.N247S	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive	.	52	1469	1	0	0	1	0.000340252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.003	B	0.007	B	0.360	N	0.998	N	1.045	L	1.99	T	-1.036	T	0.031	T	0.059	-0.856	0.535	-3.29	-1.063	-1.804	8.000	0.019	.	.	.	0.0009	0	0	0.0141	0	0	0	0	.	.	.	rs782501503	8.178e-05	0.0001	5.366e-05	0.0001	0.0009	6.921e-05	6.441e-05	0.0007	0.0007	0	8.463e-05	0	2.669e-05	0	0.0003	2.694e-05	0.0002	0.0009	4.74e-05	5.919e-05	3.95e-05	5.575e-05	0.0007	2.167e-05	1.564e-05	0.0002	0.0001	2.503e-05	0	6.837e-05	0	0	0	0	2.983e-05	0	0.0007	0.265	0.16305	T	0.269	0.23638	T	0.002	0.11197	B	0.006	0.12992	B	0.360352	0.13679	N	0.663300	1	0.08975	N	-0.035	0.05024	N	1.99	0.21666	T	-2.56	0.55339	D	0.081	0.10483	-1.0356	0.18668	T	0.031	0.13504	T	10	0.004617214	0.00096	T	.	.	.	0.019	0.03383	0.519	0.62066	0.251639045875	0.24756	0.19567362020362788	0.19484	1.50794490564	0.87177	0.443014979362	0.30989	T	0.146543	0.48420	T	-0.373802	0.03406	T	-0.774717	0.02616	T	0.0167881980221139	0.00434	T	0.705629	0.31596	T	0.15122283	0.34388	0.1140601	0.27530	0.15122283	0.34388	0.1140601	0.27529	-6.57	0.50823	T	0.2081678501505727	0.27839	0.078	0.07697	B	.;.	.;.	0.072056	0.04800	1.411	0.38032063044277692	0.02541	0.01604	0.05200	N	AEFI	0.102002	0.20472	N	-1.68102652128097	0.00911	0.03944718	-1.75440689243011	0.00917	0.04101368	0.999622275410834	0.41093	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.0	-3.29	0.04706	-1.047000	0.03632	-12.601000	0.00513	-1.583000	0.00917	0.001000	0.13787	0.000000	0.08366	0.068000	0.16518	0.0:0.1009:0.5443:0.3547	8.000	0.29451	982	0.03397	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	631.98	34	chr10	4995347	.	T	C	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=745;ExcessHet=0.0000;FS=1.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.93;MQRankSum=-1.740e-01;QD=12.39;ReadPosRankSum=0.076;SOR=0.876	GT:AD:DP:GQ:PL	0/1:27,24:51:99:646,0,754	20	0	1	0
chr10	7734944	7734944	G	A	exonic	ITIH2	.	nonsynonymous SNV	ITIH2:NM_002216:exon15:c.G1810A:p.A604T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.002	B	0.001	B	0.001	N	1.000	N	0	N	1.57	T	-1.036	T	0.038	T	0.144	0.624	7.356	-2.25	-0.858	-0.073	3.721	0.005	0.00443310003425	0.0004	.	5.795e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs139781584	3.766e-05	3.831e-05	4.36e-05	3.165e-05	0.0003	2.962e-05	2.658e-05	6.092e-05	2.956e-05	2.987e-05	2.236e-05	0	0	0	0.0003	4.317e-05	3.313e-05	1.16e-05	5.913e-05	5.91e-05	7.708e-05	4.034e-05	0.0002	3.077e-05	2.21e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.132	0.27426	T	0.165	0.30926	T	0.002	0.09854	B	0.001	0.04355	B	0.001206	0.00754	N	2.575460	1	0.08975	N	-0.2	0.04182	N	1.57	0.29342	T	0.02	0.06739	N	0.171	0.18512	-1.0364	0.18419	T	0.038	0.16462	T	10	0.047852516	0.04157	T	0.004433	0.10844	T	0.005	0.00259	.	.	0.204665344411	0.20097	0.43104451946842814	0.43021	0.0819424430668	0.09232	0.241908669472	0.02964	T	0.020569	0.16172	T	-0.461643	0.00960	T	-0.696344	0.06027	T	0.028186277018446	0.01715	T	0.421058	0.11199	T	0.02916819	0.02367	0.052812733	0.08775	0.02916819	0.02367	0.052812733	0.08774	-2.73	0.07558	T	.	.	0.065	0.01859	B	.;.	.;.	0.224402	0.06063	2.507	0.93253842311300439	0.22945	0.09534	0.15268	N	AEFDBHCI	0.555644	0.56600	D	-1.31524494449409	0.03500	0.1564528	-1.32766547578171	0.04076	0.1915147	0.879074921722519	0.25579	0.55562	0.30534	0	0.573888	0.26702	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	5.42	-2.25	0.06498	0.034000	0.13663	0.051000	0.14001	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.4614:0.0942:0.3399:0.1045	3.721	0.07985	917	0.20147	.;.	.	.	.	.	.	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	1245.98	38	chr10	7734944	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=902;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-4.450e-01;SOR=0.954	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1260,0,1607	20	0	1	0
chr10	13971769	13971769	G	T	exonic	FRMD4A	.	nonsynonymous SNV	FRMD4A:NM_001318337:exon1:c.C31A:p.P11T,	.	.	422	1048	50	2	0	54	0.0251163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.004	B	.	.	1.000	N	.	.	-1.68	D	-0.729	T	0.279	T	0.057	-0.652	1.133	1.84	0.060	1.058	5.740	0.136	.	.	0.00998403	0.0085	0.0215	0.0069	0	0	0.0126	0	0.0067	0.0019922	308	154602	rs115396302	0.0043	0.0034	0.0042	0.0044	0.0347	0.0042	0.0042	0.0302	0.0285	0.0240	0.0046	0.0201	0.0002	0.0004	0.0347	0.0033	0.0076	0.0055	0.0097	0.0097	0.0098	0.0095	0.0213	0.0093	0.0091	0.0201	0.0197	0.0213	0.0428	0.0075	0.0173	0.0002	0.0004	0.0238	0.0046	0.0080	0.0065	0.722	0.03903	T	0.404	0.14818	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	0.999954	0.19072	N	.	.	.	-1.68	0.82897	D	0.33	0.03889	N	.	.	-0.7291	0.59009	T	0.279	0.65089	T	8	0.002155006	0.00031	T	.	.	.	0.136	0.36778	.	.	0.21174354426	0.20776	.	.	.	.	.	.	.	.	.	.	-0.503725	0.00545	T	-0.477419	0.24722	T	0.00162334610149057	0.00016	T	0.381362	0.09225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00444	B	.	.	0.790707	0.11611	8.200	0.46892109152217065	0.03791	0.24268	0.22340	N	AEFBIJ	0.162317	0.28847	N	-0.770556285557363	0.14081	0.6986147	-0.814105881477307	0.14155	0.7381071	0.999721840232055	0.42220	0.45559	0.09716	2	0.37387	0.05907	3	0.491513	0.07944	0	0.631631	0.49550	0	.	.	4.89	1.84	0.24348	0.983000	0.29150	-0.096000	0.11999	0.672000	0.70159	0.255000	0.24900	0.000000	0.08366	0.043000	0.14563	0.2286:0.337:0.4344:0.0	5.740	0.17355	981	0.03995	.	.	.	.	.	.	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	1459.98	34	chr10	13971769	.	G	T	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.044e+00;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.439;SOR=0.743	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1474,0,1641	20	0	1	0
chr10	27017749	27017749	C	T	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon30:c.G4256A:p.C1419Y	Thrombocytopenia 2, Autosomal dominant	.	156	1337	25	4	0	33	0.0121906	.	.	207737	not_specified|Thrombocytopenia_2|ANKRD26-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.998	D	0.994	D	0.005	U	0.500	D	1.475	L	-1.15	T	-0.409	T	0.394	T	0.666	0.989	9.037	0.708	0.171	0.032	2.950	0.452	.	0.0014	0.00439297	0.0035	0.0004	0.0042	0	0.0012	0.0024	0.0089	0.0120	0.0032147	497	154602	rs146159734	0.0024	0.0024	0.0021	0.0027	0.0193	0.0023	0.0023	0.0164	0.0153	0.0007	0.0034	0.0024	2.527e-05	0.0015	0.0193	0.0017	0.0030	0.0104	0.0017	0.0017	0.0016	0.0018	0.0102	0.0015	0.0015	0.0079	0.0071	0.0004	0	0.0034	0.0026	0.0002	0.0008	0.0204	0.0016	0.0047	0.0102	0.095	0.35537	T	0.241	0.24334	T	.	.	.	.	.	.	0.004845	0.33331	U	0.169196	0.500123	0.31734	D	.	.	.	-1.15	0.77964	T	-7.14	0.94073	D	0.31	0.34981	-0.4094	0.71730	T	0.394	0.74706	T	10	0.01960659	0.00440	T	.	.	.	0.452	0.75211	.	.	0.523806315272	0.52025	0.0441974741003335	0.04363	0.0878064292668	0.09913	0.428612112999	0.29019	T	.	.	.	-0.2505	0.14037	T	-0.123207	0.61538	T	0.0218834906538314	0.00896	T	0.806819	0.45619	T	0.28968933	0.51963	0.37452072	0.62616	0.34960562	0.57037	0.51294774	0.71856	-7.384	0.56792	T	.	.	0.118	0.26825	B	.;.	.;.	2.132235	0.27144	17.36	0.67903168442057171	0.08495	0.11980	0.16984	N	AEFBI	0.074665	0.14971	N	-0.714204205558044	0.15621	0.7888936	-0.82370555127283	0.13921	0.7247595	6.57694041039541E-5	0.04366	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.83	0.708	0.17301	0.113000	0.15333	-0.851000	0.07178	0.578000	0.29377	0.052000	0.21487	0.000000	0.08366	0.405000	0.26894	0.3432:0.3953:0.0:0.2615	2.950	0.05499	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	940.98	34	chr10	27017749	.	C	T	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=770;ExcessHet=0.0000;FS=7.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=-1.155e+00;SOR=1.750	GT:AD:DP:GQ:PL	0/1:34,32:66:99:955,0,885	20	0	1	0
chr10	30313751	30313751	G	C	exonic	MTPAP	.	nonsynonymous SNV	MTPAP:NM_018109:exon9:c.C1607G:p.P536R,	.	.	0	1521	1	0	0	1	0.000328623	.	.	441370	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.004	B	0.003	B	0.000	N	1.000	N	0.69	N	2.29	T	-1.049	T	0.048	T	0.142	-0.406	2.102	-0.675	-0.135	0.436	2.898	0.016	0.00506863796388	0.0008	0.000998403	0.0005	0	0.0004	0.0001	0	0.0005	0	0.0015	0.0005757	89	154602	rs147174746	0.0007	0.0007	0.0007	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0.0005	0	0	1.872e-05	0.0005	0.0008	0.0007	0.0012	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	9.633e-05	0	0.0002	0	0	0	0	0.0007	0	0.0021	0.568	0.06223	T	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	0.000467	0.00613	N	3.300120	1	0.08975	N	0.345	0.11182	N	1.57	0.29342	T	-0.35	0.12847	N	0.042	0.01498	-1.0489	0.14705	T	0.048	0.20672	T	10	0.00920409	0.00208	T	0.005069	0.12846	T	0.016	0.02506	.	.	0.147330786459	0.14319	0.1641430465654035	0.16334	0.376681390486	0.39101	0.219526976347	0.01283	T	0.012506	0.10980	T	-0.587057	0.00175	T	-0.656577	0.08499	T	0.00102909735869616	0.00010	T	0.20068	0.02272	T	0.019569851	0.00490	0.03080993	0.01585	0.022019092	0.00837	0.025235422	0.00561	-3.741	0.19925	T	.	.	0.083	0.09385	B	.	.	0.238261	0.06189	2.637	0.23739125398025251	0.01017	0.35269	0.25262	N	AEFDBHCI	0.114884	0.22611	N	-1.26087571277802	0.04158	0.1871213	-1.26812393821415	0.04868	0.230662	0.00108436047993539	0.08206	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	-0.675	0.10793	0.477000	0.21906	0.592000	0.19832	-0.654000	0.04376	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4646:0.1068:0.308:0.1206	2.898	0.05348	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	33	chr10	30313751	.	G	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=812;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-1.229e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1188,0,1803	20	0	1	0
chr10	45003417	45003417	G	A	exonic	ZNF22	.	nonsynonymous SNV	ZNF22:NM_006963:exon2:c.G49A:p.G17R,	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.002	B	0.061	N	0.579	D	0.695	N	3.12	T	-1.023	T	0.015	T	0.255	3.515	17.96	3.08	0.780	1.873	9.341	0.009	0.00457390789572	7.7e-05	.	0.0003	0	0.0003	0	0	0.0003	0	0.0010	0.0002652	41	154602	rs371899490	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0002	0.0014	0.0013	0	0.0002	0	0	0	0.0019	9.716e-05	0.0003	0.0016	0.0001	0.0001	8.989e-05	0.0002	0.0005	8.663e-05	7.255e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0	0.0004	0.002	0.72154	D	0.066	0.44501	T	0.001	0.07471	B	0.002	0.06944	B	0.060965	0.22208	N	0.339880	0.578889	0.32357	D	0.975	0.24501	L	3.12	0.08106	T	0.21	0.04776	N	0.5	0.53269	-1.0234	0.22606	T	0.015	0.05946	T	10	0.023058474	0.00592	T	0.004574	0.11283	T	0.009	0.00846	0.297	0.26202	0.130388298395	0.12655	0.26331360889705774	0.26244	0.849794527335	0.68469	0.518514335155	0.41417	T	0.044674	0.26888	T	-0.485848	0.00685	T	-0.511197	0.21192	T	0.0984501527304406	0.12186	T	0.552145	0.19060	T	0.16930425	0.37439	0.15621036	0.36583	0.16930425	0.37439	0.15621036	0.36582	-3.632	0.18321	T	.	.	0.118	0.23986	B	.	.	3.046892	0.40872	21.2	0.99895272300866567	0.96819	0.17606	0.19909	N	AEFDBI	0.070918	0.14097	N	-0.399090249340621	0.25501	1.384787	-0.246262214286162	0.29900	1.678982	0.99992537436811	0.46280	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.94	3.08	0.34576	1.871000	0.39176	8.575000	0.77622	0.654000	0.53741	0.579000	0.27578	1.000000	0.68203	0.952000	0.50033	0.1746:0.0:0.8254:0.0	9.341	0.37243	916	0.20744	.	.	.	.	.	.	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	697.98	37	chr10	45003417	.	G	A	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=759;ExcessHet=0.0000;FS=0.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-4.440e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/1:42,28:70:99:712,0,1184	20	0	1	0
chr10	46461921	46461921	G	A	exonic	NPY4R	.	nonsynonymous SNV	NPY4R:NM_001278794:exon2:c.C715T:p.R239W	.	.	822	688	5	7	0	19	0.0136201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs1345405076	0.0105	0.0089	0.0108	0.0102	0.0128	0.0103	0.0103	0.0126	0.0125	0.0035	0.0034	0.0014	0.0002	0.0022	0.0024	0.0128	0.0072	0.0035	0.0084	0.0069	0.0084	0.0084	0.0116	0.0078	0.0076	0.0107	0.0103	0.0058	0	0.0093	0.0017	0	0.0025	0	0.0116	0.0036	0.0023	0.168	0.23007	T	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.05	0.39990	T	-0.22	0.10480	N	0.181	0.19593	.	.	.	.	.	.	.	0.018795013	0.00412	T	.	.	.	.	.	.	.	.	.	0.7849080506651781	0.78441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.24192	B	.;.	.;.	2.549379	0.32991	19.21	.	.	.	.	.	.	0.388404	0.46803	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.517000	0.35474	1.275000	0.25315	-0.195000	0.09104	0.956000	0.33378	0.774000	0.26724	0.136000	0.19798	.	.	.	.	.	.;.	.	.	.	.	.	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	0.03125	3870.55	39	chr10	46461921	.	G	A	3870.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.468;DP=814;ExcessHet=0.0000;FS=2.248;InbreedingCoeff=-0.0079;MLEAC=1;MLEAF=0.031;MQ=37.26;MQRankSum=-2.830e-01;QD=10.87;ReadPosRankSum=1.81;SOR=0.836	GT:AD:DP:GQ:PL	0/1:178,178:356:99:3882,0,4091	15	0	1	5
chr10	48222380	48222380	T	C	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon10:c.A1316G:p.N439S	.	.	435	1084	2	1	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.0	B	0.007	B	.	.	1.000	N	-0.185	N	-0.93	T	-0.992	T	0.142	T	0.085	-0.109	3.467	-0.767	0.055	0.721	9.515	0.121	0.00946327784271	.	.	4.945e-05	0	0	0	0	2.999e-05	0	0.0002	4.53e-05	7	154602	rs780842281	7.319e-05	7.319e-05	7.351e-05	7.288e-05	0.0007	6.181e-05	5.741e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	7.194e-05	8.279e-05	0.0002	3.942e-05	4.597e-05	5.138e-05	2.69e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0.0002	0.263	0.16412	T	0.37	0.16668	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.465	0.02725	N	-0.93	0.75215	T	-2.09	0.48523	N	0.206	0.22870	-0.9923	0.32012	T	0.142	0.46312	T	9	0.046512157	0.03852	T	0.009463	0.24786	T	0.121	0.33580	0.423	0.46693	0.193865811164	0.18958	0.045909296310329493	0.04534	0.0273910062881	0.02796	0.278103411198	0.07229	T	0.026628	0.41215	T	-0.405088	0.02143	T	-0.527508	0.19537	T	0.057010356336832	0.06690	T	0.70293	0.32446	T	0.038397744	0.05108	0.057115074	0.10324	0.038397744	0.05108	0.057115074	0.10324	-5.214	0.39084	T	.	.	0.062	0.01271	B	.;.;.	.;.;.	-0.132710	0.03450	0.637	0.51815145240605143	0.04632	0.49383	0.28421	N	AEFBI	0.061342	0.11720	N	-1.39454719707051	0.02689	0.1190832	-1.30208718458686	0.04404	0.2076239	0.20021193193488	0.18113	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.4	-0.767	0.10461	0.572000	0.23387	-0.398000	0.09429	-0.717000	0.03845	0.446000	0.26534	0.000000	0.08366	0.006000	0.07323	0.0:0.3859:0.0:0.6141	9.515	0.38263	976	0.04745	FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM 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	1	0	0	0	0.02381	1386.98	33	chr10	48222380	.	T	C	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=815;ExcessHet=0.0000;FS=1.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-9.880e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:71,56:127:99:1401,0,1670	20	0	1	0
chr10	48976824	48976824	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon59:c.C9136T:p.H3046Y,	.	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	B	0.029	B	0.181	N	0.939	N	1.175	L	1.62	T	-1.031	T	0.094	T	0.498	2.234	13.43	4.7	2.596	1.071	6.293	0.067	0.00906952937368	.	0.000199681	0.0010	0	0.0031	0	0	0	0	0.0055	9.06e-05	14	154602	rs565549386	0.0001	0.0001	8.723e-05	0.0001	0.0011	8.75e-05	8.2e-05	0.0009	0.0009	0	0	0	0	0	0.0007	3.989e-05	0.0002	0.0011	6.565e-05	6.561e-05	5.138e-05	8.057e-05	0.0008	3.514e-05	2.614e-05	0.0003	0.0002	0	0	6.533e-05	0	0	0	0	7.349e-05	0	0.0008	0.839	0.02818	T	0.459	0.12632	T	0.315	0.32886	B	0.029	0.21540	B	0.180735	0.17110	N	0.603511	0.999696	0.26840	N	1.01	0.25309	L	1.62	0.28189	T	0.37	0.03639	N	0.148	0.15046	-1.0309	0.20163	T	0.094	0.35578	T	9	0.007259369	0.00165	T	0.00907	0.23869	T	0.119	0.33137	0.461	0.52916	0.0666544352282	0.05500	0.3636899630063193	0.36282	.	.	0.509078025818	0.40093	T	0.004228	0.03640	T	-0.437543	0.01337	T	-0.436655	0.29183	T	0.0281064409927212	0.01703	T	0.787021	0.42574	T	0.049080648	0.08660	0.05367981	0.09090	0.049080648	0.08659	0.05367981	0.09089	-4.947	0.36259	T	.	.	0.078	0.06756	B	.	.	2.735971	0.35827	20.0	0.82837682433971382	0.14401	0.18694	0.20364	N	AEFDBCI	0.161376	0.28743	N	-0.0352069164638722	0.40265	2.388316	-0.0140503007391816	0.39080	2.311737	0.0414398659266497	0.14484	0.706298	0.61202	0	0.702456	0.74545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.7	4.7	0.58776	0.817000	0.26938	5.890000	0.50749	0.599000	0.40250	0.008000	0.17931	1.000000	0.68203	0.985000	0.61073	0.0:0.7072:0.1912:0.1016	6.293	0.20277	970	0.06235	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	978.98	33	chr10	48976824	.	C	T	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.516e+00;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-3.800e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:43,41:84:99:993,0,1191	20	0	1	0
chr10	68210454	68210454	A	C	exonic	MYPN	.	stoploss	MYPN:NM_032578:exon20:c.A3962C:p.X1321S	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.777	15.25	3.83	0.551	2.871	8.588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.103228	0.35891	T	-0.386056	0.35012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	1.209421	0.16023	12.26	0.7840277042299737	0.12285	0.97469	0.74950	D	AEFDBI	.	.	.	0.655956795770014	0.76756	6.545332	0.484648360778992	0.66972	5.02221	0.551124795103293	0.21335	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.288269	0.34340	6.16	3.83	0.43287	2.960000	0.48853	4.126000	0.42002	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.7736:0.0:0.2264:0.0	8.588	0.32827	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03333	113.52	39	chr10	68210454	.	A	C	113.52	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.987e+00;DP=988;ExcessHet=0.0000;FS=126.767;InbreedingCoeff=-0.1086;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.07;SOR=5.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,16:86:99:0|1:68210454_A_C:125,0,2222:68210454	14	0	1	6
chr10	70883979	70883979	T	C	exonic	PCBD1	.	nonsynonymous SNV	PCBD1:NM_000281:exon4:c.A286G:p.I96V	Hyperphenylalaninemia, BH4-deficient, D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2096477	Pterin-4_alpha-carbinolamine_dehydratase_1_deficiency	MONDO:MONDO:0009908,MedGen:C1849700,OMIM:264070,Orphanet:1578,Orphanet:238583	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.188	B	0.119	B	0.000	D	1.000	D	2.68	M	-2.82	D	0.294	D	0.710	D	0.352	1.644	11.46	4.56	0.992	4.656	11.547	0.490	0.0640507744594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.039	0.51112	D	0.188	0.29318	B	0.119	0.32162	B	0.000000	0.84330	D	0.046997	0.999982	0.54805	D	2.135	0.59519	M	-2.82	0.91192	D	-0.81	0.22294	N	0.225	0.25253	0.294	0.87457	D	0.710	0.90032	D	10	0.31371367	0.48819	T	0.064051	0.69158	D	0.490	0.77720	0.683	0.82078	0.77224762477	0.77016	0.4943380254093764	0.49354	0.218719741874	0.24411	0.518507957458	0.41416	T	0.587321	0.86578	D	0.0912654	0.63332	D	-0.10668	0.62874	T	0.511732399463654	0.33062	D	0.766723	0.39447	T	0.280562	0.51103	0.26347154	0.52154	0.280562	0.51102	0.26347154	0.52153	-6.833	0.52804	T	.	.	0.176	0.38462	B	.	.	3.648326	0.51769	23.1	0.95849751208941958	0.27989	0.91100	0.52860	D	AEFDBCI	0.641910	0.61907	D	-0.151568324771143	0.35167	2.016609	-0.102002154123516	0.35310	2.041298	0.999989410492586	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.69	4.56	0.55644	4.637000	0.61044	5.045000	0.46946	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0695:0.0:0.9305	11.547	0.49951	587	0.69154	.	.	.	.	.	.	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	1967.98	43	chr10	70883979	.	T	C	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.290e-01;DP=941;ExcessHet=0.0000;FS=10.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-7.270e-01;SOR=0.283	GT:AD:DP:GQ:PL	0/1:65,81:146:99:1982,0,1575	20	0	1	0
chr10	73114436	73114436	T	C	exonic	NUDT13	.	nonsynonymous SNV	NUDT13:NM_001283014:exon2:c.T71C:p.V24A	.	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.921	D	0.005	N	1.000	D	0.895	L	1.5	T	-0.782	T	0.179	T	0.528	3.793	19.26	5.28	2.112	3.917	11.870	0.186	.	0.0017	0.00159744	0.0038	0.0007	0.0007	0.0001	0.0077	0.0031	0.0022	0.0114	0.0033958	525	154602	rs143864075	0.0030	0.0030	0.0027	0.0033	0.0116	0.0029	0.0029	0.0110	0.0107	0.0002	0.0007	7.921e-05	0	0.0076	0.0025	0.0025	0.0026	0.0116	0.0024	0.0025	0.0023	0.0026	0.0085	0.0022	0.0021	0.0065	0.0057	0.0004	0	0.0008	0	0	0.0064	0	0.0034	0.0014	0.0085	0.006	0.72154	D	0.005	0.74150	D	0.982	0.70673	D	0.591	0.65636	P	0.005007	0.33181	N	0.234003	0.989375	0.81001	D	2.215	0.62545	M	1.5	0.51714	T	-1.78	0.42001	N	0.514	0.57006	-0.7824	0.56167	T	0.179	0.52443	T	10	0.0066177845	0.00150	T	.	.	.	0.186	0.46104	.	.	0.466907325337	0.46318	0.7253600595327329	0.72480	0.290016544937	0.31410	0.574519753456	0.49315	T	0.038154	0.24739	T	-0.348951	0.04793	T	-0.264625	0.48360	T	0.0355969982717661	0.02910	T	0.868313	0.57032	D	0.11692703	0.27573	0.121260874	0.29258	0.11692703	0.27573	0.121260874	0.29258	-2.717	0.08092	T	.	.	0.520	0.68892	A	.;.;.;.	.;.;.;.	4.171483	0.62732	24.5	0.99904461876868911	0.97576	0.84122	0.43206	D	AEFBI	0.451218	0.50529	N	0.433388987648342	0.63268	4.557263	0.459710388389453	0.65344	4.811799	0.999843422715294	0.43971	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.28	5.28	0.74118	4.232000	0.58445	7.656000	0.63963	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.0:1.0	11.870	0.51793	864	0.32732	.;.;.;.	.	.	.	.	chr10:74874194	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	1315.98	51	chr10	73114436	.	T	C	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=960;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-2.340e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1330,0,1042	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,38,0:101:99:.:.:928,0,1535,1117,1649,2766	11	2	6	0
chr10	86942658	86942658	T	C	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon6:c.A2126G:p.K709R,	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.012	B	0.01	B	0.531	N	1.000	N	0.755	N	2.39	T	-1.014	T	0.028	T	0.034	1.516	11.02	3.83	1.866	1.691	9.032	0.075	0.00826670653165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.37	0.16473	T	0.006	0.13644	B	0.002	0.06944	B	0.530608	0.11643	N	0.769745	1	0.08975	N	1.04	0.26193	L	2.39	0.15724	T	-0.57	0.17210	N	0.027	0.00571	-1.0135	0.25816	T	0.028	0.12147	T	10	0.0714533	0.10533	T	0.008267	0.21903	T	0.075	0.21907	0.269	0.21735	0.412587454835	0.40873	0.12909857314731457	0.12834	0.948142833302	0.72497	0.532063126564	0.43325	T	0.004005	0.03413	T	-0.360955	0.04076	T	-0.756264	0.03248	T	0.06982746917005	0.08626	T	0.364564	0.08467	T	0.05133097	0.09410	0.045556266	0.06155	0.05133097	0.09410	0.045556266	0.06154	-1.326	0.01443	T	.	.	0.070	0.03336	B	.	.	0.988937	0.13669	10.20	0.89053154120540323	0.18472	0.05361	0.11221	N	AEFDBI	0.080237	0.16219	N	-0.84301923858713	0.12221	0.594445	-0.808984796596683	0.14279	0.7452283	0.99994293328588	0.47345	0.706548	0.73137	0	0.547309	0.14657	0	0.478664	0.07449	1	0.714379	0.83352	0	.	.	4.96	3.83	0.43287	2.227000	0.42615	0.717000	0.20982	0.509000	0.23192	0.021000	0.19753	0.002000	0.18203	0.001000	0.02609	0.0:0.0887:0.0:0.9113	9.032	0.35424	858	0.34001	.	.	.	.	.	.	Uncertain significance	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	1000.98	35	chr10	86942658	.	T	C	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=900;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.613;SOR=0.896	GT:AD:DP:GQ:PL	0/1:45,38:83:99:1015,0,1086	20	0	1	0
chr10	94588298	94588298	G	A	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289070:exon11:c.G1102A:p.V368I	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.165	B	0.069	B	0.000	D	1.000	D	-0.19	N	-3.13	D	-0.188	T	0.496	T	0.105	1.696	11.63	5.36	2.499	6.383	18.075	0.404	0.0346300087898	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779583208	7.556e-06	7.527e-06	6.837e-06	8.281e-06	9.939e-06	4.05e-06	2.96e-06	5.33e-06	3.9e-06	0	0	0	0	0	0	9.939e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	1.0	0.12037	T	0.153	0.28508	B	0.065	0.27757	B	0.000001	0.62929	D	0.057154	0.999892	0.81001	D	-0.035	0.05024	N	-3.11	0.92829	D	-0.65	0.18877	N	0.113	0.10198	-0.1877	0.77986	T	0.496	0.80927	T	10	0.19124275	0.34802	T	0.03463	0.55804	D	0.404	0.71714	0.402	0.43245	0.625785243138	0.62273	0.10302519881724441	0.10232	0.561149354965	0.52620	0.503827929497	0.39361	T	0.264541	0.78202	T	-0.00547715	0.50898	T	-0.245644	0.50246	T	0.576008558273315	0.35465	D	0.934407	0.75457	D	0.06573088	0.14076	0.104330406	0.25056	0.06573088	0.14075	0.104330406	0.25055	-4.026	0.24192	T	.	.	0.102	0.29032	B	.;.;.;.;.	.;.;.;.;.	2.662464	0.34688	19.70	0.93049146085006873	0.22656	0.94037	0.59923	D	AEFBI	0.498304	0.53246	N	-0.151341156889621	0.35178	2.017283	0.0994421473580197	0.44522	2.732258	0.8733166424531	0.25463	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	6.467000	0.73463	11.859000	0.98275	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.075	0.89353	523	0.74147	SNF2-related, N-terminal domain;SNF2-related, N-terminal domain;SNF2-related, N-terminal domain;SNF2-related, N-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	1	0	0	0	0	0	0	0.02381	1262.98	34	chr10	94588298	.	G	A	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.120e-01;DP=794;ExcessHet=0.0000;FS=3.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.815;SOR=0.777	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1277,0,1221	20	0	1	0
chr10	96159323	96159323	C	T	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.C3001T:p.R1001C	.	.	430	1088	4	0	0	4	0.00183486	.	.	3420774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342e-05	0	0.0003	0	0	1.514e-05	0	0	2.59e-05	4	154602	rs782808939	2.532e-05	2.531e-05	2.179e-05	2.889e-05	0.0004	1.868e-05	1.631e-05	0.0002	0.0002	0	0.0004	0	0	1.873e-05	0	1.709e-05	1.657e-05	0	4.602e-05	4.597e-05	3.856e-05	5.384e-05	0.0002	2.11e-05	1.528e-05	5.292e-05	2.837e-05	0	0	0.0002	0	0	0	0	5.883e-05	0	0	.	.	.	0.197	0.27855	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-2.08	0.00163	N	.	.	.	.	.	.	0.15	0.15328	.	.	.	.	.	.	.	0.037279814	0.02073	T	.	.	.	.	.	.	.	0.357724736475	0.35387	0.15230602995315673	0.15152	.	.	0.198947846889	0.00427	T	0.003663	0.03070	T	-0.377468	0.03232	T	-0.463827	0.26184	T	.	.	.	0.519848	0.16911	T	0.10135891	0.23942	0.11478544	0.27709	0.10135891	0.23942	0.11478544	0.27708	-2.661	0.06981	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	1.474387	0.18991	14.03	0.76796428678152584	0.11613	0.07589	0.13600	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00152091153806004	0.08604	0.295142	0.05270	0	0.30413	0.05452	0	0.292756	0.05521	0	0.221052	0.04502	0	0.0565591	0.13394	6.08	3.76	0.42368	0.877000	0.27756	2.302000	0.32024	-0.826000	0.02916	0.971000	0.34370	1.000000	0.68203	0.038000	0.14061	0.0:0.15:0.0:0.85	9.566	0.38567	513	0.74941	.;.;.	.	.	.	.	.	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	1475.98	118	chr10	96159323	.	C	T	1475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=948;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-2.970e-01;SOR=0.767	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1490,0,1385	20	0	1	0
chr10	96384753	96384753	G	T	exonic	TLL2	.	nonsynonymous SNV	TLL2:NM_012465:exon16:c.C2028A:p.D676E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.25	M	1.55	T	-0.563	T	0.222	T	0.868	4.344	22.9	2.72	1.286	3.875	10.549	0.460	0.0351985101352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000214	0.47681	D	0.000000	0.999992	0.58761	D	4.11	0.97368	H	1.55	0.29866	T	-3.76	0.71276	D	0.968	0.97856	-0.5626	0.66305	T	0.222	0.58601	T	10	0.9461714	0.93943	D	0.035199	0.56185	D	0.460	0.75755	0.817	0.93127	0.555198480781	0.55179	0.7754755668385007	0.77497	0.642858188304	0.57842	0.778807163239	0.78748	T	0.283019	0.65577	T	0.207517	0.74596	D	0.0603077	0.74265	D	0.999553382396698	0.97890	D	0.979102	0.92705	D	0.7044136	0.78299	0.70315677	0.82505	0.7044136	0.78300	0.70315677	0.82506	-12.896	0.88929	D	.	.	0.990	0.93477	P	.	.	4.454617	0.69278	25.4	0.99753540929543649	0.84460	0.95138	0.63577	D	AEFDBI	0.680363	0.64408	D	0.627343473674568	0.74908	6.213685	0.506023771626105	0.68395	5.21413	0.038220138306261	0.14336	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.59	2.72	0.31179	3.024000	0.49358	4.431000	0.43351	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.411000	0.27028	0.1685:0.0:0.8315:0.0	10.549	0.44263	526	0.73951	CUB domain|CUB domain|CUB domain|CUB 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	1422.98	44	chr10	96384753	.	G	T	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.652;DP=899;ExcessHet=0.0000;FS=1.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=1.70;SOR=0.460	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1437,0,1261	20	0	1	0
chr10	99797306	99797306	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon7:c.G842A:p.S281N,	Dubin-Johnson syndrome, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	195580	Dubin-Johnson_syndrome|not_specified|not_provided	MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.883	P	0.4	B	0.000	D	0.960	N	2.17	M	0.77	T	-0.820	T	0.109	T	0.175	2.595	14.64	5.61	2.635	3.204	15.121	0.112	.	0.0052	0.00399361	0.0066	0.0024	0.0053	0.0001	0.0088	0.0092	0.0093	0.0020	0.005595	865	154602	rs56131651	0.0068	0.0069	0.0070	0.0067	0.0111	0.0067	0.0067	0.0089	0.0081	0.0016	0.0053	0.0091	2.523e-05	0.0067	0.0111	0.0076	0.0065	0.0023	0.0054	0.0054	0.0053	0.0055	0.0074	0.0051	0.0050	0.0069	0.0067	0.0016	0.0099	0.0064	0.0081	0.0004	0.0073	0.0068	0.0074	0.0095	0.0027	0.142	0.25457	T	0.281	0.21612	T	0.883	0.48537	P	0.4	0.44481	B	0.000134	0.49741	D	0.134180	0.960121	0.38163	D	0	0.06538	N	0.77	0.49642	T	-0.51	0.15986	N	0.306	0.34552	-0.8202	0.53921	T	0.109	0.39509	T	10	0.0060174763	0.00135	T	.	.	.	0.112	0.31546	.	.	0.724806583605	0.72237	0.3081425537827062	0.30727	0.15302378806	0.17264	0.481644958258	0.36283	T	0.060603	0.31430	T	-0.515271	0.00468	T	-0.5078	0.21541	T	0.02477180599758	0.01243	T	0.721628	0.33490	T	0.11233808	0.26539	0.13723007	0.32808	0.1276766	0.29870	0.13723007	0.32807	-3.653	0.18627	T	.	.	0.194	0.41526	B	.;.	.;.	3.853465	0.55833	23.7	0.98265279446445175	0.39703	0.88793	0.48893	D	AEFBCI	0.679332	0.64339	D	0.349949557232264	0.58738	4.047859	0.412236943043777	0.62325	4.446194	0.999999982469538	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	3.271000	0.51311	11.807000	0.96822	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	15.121	0.72117	810	0.42761	.;.	.	.	.	.	.	Likely benign	0	0	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	1692.11	36	chr10	99797306	.	G	A	1692.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.100e+00;DP=820;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=2.30;SOR=0.744	GT:AD:DP:GQ:PL	0/1:33,32:65:99:870,0,937	19	0	2	0
chr10	100990470	100990470	G	A	exonic	TWNK	.	nonsynonymous SNV	TWNK:NM_001163812:exon3:c.G1519A:p.V507I	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Autosomal recessive;Perrault syndrome 5, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	171770	Perrault_syndrome_5|Perrault_syndrome|not_provided|not_specified	MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138,Orphanet:2855|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.669	P	0.188	B	0.002	N	0.591	N	0.85	L	-0.15	T	0.016	D	0.584	D	0.102	2.733	15.10	4.84	1.580	2.980	8.397	0.724	0.172435434232	7.7e-05	0.000199681	8.237e-06	0	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs369588002	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	9.893e-06	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	6.533e-05	0	0	0	0	0	0	0.0004	0.132	0.26519	T	0.039	0.51112	D	0.637	0.41149	P	0.188	0.36237	B	0.002250	0.36929	N	0.228496	0.59072	0.32454	D	2.105	0.58435	M	-0.15	0.93928	T	-0.59	0.17624	N	0.696	0.70088	0.016	0.82582	D	0.584	0.85052	D	10	0.25000972	0.42321	T	0.172435	0.84942	D	0.724	0.90280	.	.	0.4147015802	0.41088	0.3335980080253733	0.33272	0.5939459802	0.54724	.	.	.	0.371019	0.73546	T	-0.144149	0.29231	T	-0.242182	0.50585	T	0.251246571540833	0.22929	T	0.835916	0.52772	T	0.044669088	0.07179	0.043727312	0.05505	0.03896705	0.05291	0.040032778	0.04233	-6.578	0.54202	T	0.18711358879173207	0.24383	0.103	0.21315	B	.;.;.;.	.;.;.;.	3.021580	0.40446	21.2	0.98448954120553589	0.41598	0.83159	0.42300	D	AEFDGBCI	0.180629	0.30793	N	-0.15082859053391	0.35199	2.018794	-0.0177452763239355	0.38914	2.299498	0.999996286478917	0.74766	0.67177	0.52595	0	0.581341	0.33841	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.73	4.84	0.62125	2.956000	0.48822	7.467000	0.59112	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.2279:0.0:0.7721:0.0	8.397	0.31725	552	0.72024	DNA helicase, DnaB-like, C-terminal;DNA helicase, DnaB-like, C-terminal;.;DNA helicase, DnaB-like, C-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1343.98	34	chr10	100990470	.	G	A	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e-01;DP=825;ExcessHet=0.0000;FS=3.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.59;SOR=0.575	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1358,0,1626	20	0	1	0
chr10	102066172	102066172	T	G	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.T698G:p.L233R,	Hermansky-Pudlak syndrome 6	.	0	1445	75	2	0	79	0.0266083	.	.	207733	Hermansky-Pudlak_syndrome_6|not_specified|not_provided	MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.001	B	0.296	N	1.000	N	1.265	L	-1.05	T	-0.993	T	0.163	T	0.248	-1.357	0.028	2.39	0.870	1.287	1.041	0.080	.	0.0068	0.00359425	0.0075	0.0016	0.0042	0	0.0003	0.0093	0.0124	0.0127	0.0072121	1115	154602	rs36078476	0.0083	0.0083	0.0082	0.0084	0.0182	0.0082	0.0082	0.0154	0.0143	0.0014	0.0050	0.0306	2.519e-05	0.0003	0.0182	0.0084	0.0097	0.0119	0.0062	0.0062	0.0065	0.0059	0.0147	0.0059	0.0057	0.0120	0.0109	0.0016	0.0055	0.0093	0.0259	0.0002	0.0002	0.0068	0.0080	0.0085	0.0147	0.799	0.03125	T	0.309	0.19782	T	0.0	0.02946	B	0.001	0.04355	B	0.295985	0.14683	N	0.686580	1	0.08975	N	2.3	0.65703	M	-1.05	0.76690	T	1.01	0.01387	N	0.259	0.29313	-0.9927	0.31906	T	0.163	0.49980	T	10	0.0056492984	0.00125	T	.	.	.	0.080	0.23350	.	.	0.566228512615	0.56287	0.2699281259415084	0.26905	0.699373421703	0.61030	0.295210570097	0.09689	T	0.119345	0.44081	T	-0.413859	0.01874	T	-0.356868	0.38415	T	0.00708485113408285	0.00081	T	0.511749	0.16382	T	0.059877582	0.12222	0.08159723	0.18555	0.059877582	0.12221	0.08159723	0.18554	-4.568	0.31767	T	0.055239806055071006	0.01217	0.118	0.23952	B	.	.	1.971509	0.25044	16.62	0.72400093041933844	0.09960	0.02923	0.07733	N	AEFDGBHCI	0.090656	0.18369	N	-0.900017182519168	0.10842	0.5201311	-0.815442134888358	0.14121	0.7362293	0.99999999969378	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.9	2.39	0.28492	1.501000	0.35301	4.406000	0.43264	-0.127000	0.13314	0.084000	0.22438	1.000000	0.68203	0.041000	0.14368	0.2679:0.0946:0.2798:0.3577	1.041	0.01462	527	0.73864	.	.	.	.	.	rs36078476	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	0.04762	2632.11	35	chr10	102066172	.	T	G	2632.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.517e+00;DP=923;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.393;SOR=0.712	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1296,0,1650	19	0	2	0
chr10	102424295	102424295	G	A	exonic	CUEDC2	.	nonsynonymous SNV	CUEDC2:NM_024040:exon5:c.C380T:p.S127L,	.	.	419	1092	10	1	0	12	0.00546448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.0	B	0.806	N	1.000	N	0.345	N	-2.4	D	-0.554	T	0.475	T	0.107	-0.122	3.401	4.12	1.253	3.368	9.468	0.206	0.0385002305528	0.0014	0.000798722	0.0016	0.0005	0.0010	0	0	0.0024	0.0022	0.0007	0.0015782	244	154602	rs200550064	0.0017	0.0017	0.0017	0.0018	0.0066	0.0017	0.0017	0.0049	0.0044	0.0004	0.0018	0.0045	2.519e-05	0.0001	0.0066	0.0019	0.0023	0.0006	0.0013	0.0013	0.0016	0.0010	0.0021	0.0012	0.0011	0.0016	0.0015	0.0005	0	0.0021	0.0037	0	0	0	0.0018	0.0033	0.0010	0.169	0.22920	T	0.34	0.18018	T	0.001	0.07471	B	0.0	0.01387	B	0.806428	0.06800	N	1.086080	0.999999	0.08975	N	0.345	0.11182	N	-2.4	0.88455	D	-1.0	0.26422	N	0.135	0.13198	-0.5537	0.66646	T	0.475	0.79872	T	10	0.005452156	0.00120	T	0.038	0.58257	D	0.206	0.49396	.	.	0.896756161898	0.89573	0.30278921561647426	0.30191	0.369424539818	0.38471	0.366634428501	0.20348	T	0.027536	0.20144	T	-0.392578	0.02589	T	-0.337207	0.40661	T	0.0211851797004083	0.00820	T	0.684232	0.29249	T	0.039601997	0.05498	0.051324703	0.08236	0.039601997	0.05498	0.051324703	0.08236	-4.227	0.27141	T	.	.	0.065	0.02038	B	.	.	3.068477	0.41238	21.3	0.83566567893211086	0.14796	0.72835	0.35638	D	AEFGBCI	0.185171	0.31250	N	-0.416154188473115	0.24902	1.347964	-0.281254930990606	0.28715	1.603237	0.99984333186954	0.43971	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	4.12	0.47504	3.692000	0.54460	6.904000	0.56879	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0992:0.0:0.9008:0.0	9.468	0.37987	740	0.53092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2912.98	36	chr10	102424295	.	G	A	2912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=964;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-1.802e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:88,113:201:99:2927,0,2001	20	0	1	0
chr10	104212153	104212153	C	T	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon5:c.G589A:p.V197M,	.	.	432	1070	18	2	0	22	0.0101758	.	.	737336	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.973	D	0.219	N	0.555	N	1.435	L	1.58	T	-0.314	T	0.316	T	0.33	2.167	13.20	2.27	0.518	0.734	9.092	0.098	0.0587313912407	0.0042	0.00339457	0.0039	0.0006	0.0018	0	0.0006	0.0058	0.0022	0.0032	0.0040297	623	154602	rs117768807	0.0050	0.0050	0.0050	0.0050	0.0080	0.0049	0.0049	0.0061	0.0055	0.0006	0.0034	0.0278	2.521e-05	0.0010	0.0080	0.0051	0.0058	0.0036	0.0035	0.0035	0.0039	0.0030	0.0046	0.0032	0.0032	0.0042	0.0040	0.0006	0	0.0046	0.0242	0	0.0011	0.0068	0.0046	0.0052	0.0029	0.003	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.973	0.72923	D	0.218985	0.16184	N	0.453907	0.554712	0.32163	D	.	.	.	1.58	0.70365	T	-1.75	0.45949	N	0.595	0.62526	-0.3135	0.74606	T	0.316	0.68566	T	10	0.00836578	0.00190	T	0.058731	0.67421	D	0.098	0.28162	.	.	0.652543851182	0.64965	0.4802863234926715	0.47948	0.488469659113	0.47645	0.424935042858	0.28515	T	0.078936	0.36010	T	-0.367765	0.03708	T	-0.299126	0.44817	T	0.0217730207700796	0.00883	T	0.831417	0.49863	T	0.09003141	0.21053	0.14748919	0.34901	0.10236114	0.24187	0.15738854	0.36803	-4.016	0.24042	T	.	.	0.269	0.50324	B	.;.;.;.	.;.;.;.	2.332787	0.29889	18.26	0.99672182759038686	0.78652	0.23303	0.22032	N	AEFBI	0.052138	0.09278	N	-0.0973471248305819	0.37507	2.183208	-0.259576539825165	0.29442	1.649586	1.43339874387244E-4	0.05573	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.51	2.27	0.27501	0.872000	0.27688	-0.193000	0.11018	0.599000	0.40250	0.518000	0.27096	0.000000	0.08366	0.378000	0.26290	0.0:0.7205:0.0:0.2795	9.092	0.35780	252	0.90114	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2132.98	33	chr10	104212153	.	C	T	2132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.137e+00;DP=850;ExcessHet=0.0000;FS=4.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-6.180e-01;SOR=0.409	GT:AD:DP:GQ:PL	0/1:59,85:144:99:2147,0,1483	20	0	1	0
chr10	110812948	110812948	G	C	splicing	RBM20	NM_001134363:exon9:c.2550+1G>C	.	.	Cardiomyopathy, dilated, 1DD, Autosomal dominant	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.894	19.79	5.53	2.763	5.347	18.021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.476e-05	0.0003	4.26e-05	4.707e-05	5.237e-05	3.498e-05	3.194e-05	4.084e-05	3.703e-05	3.6e-05	0	0	2.899e-05	0	0	5.237e-05	3.79e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.251156	0.94881	34	0.99507410660897344	0.68381	0.92818	0.56620	D	AEFDBCI	.	.	.	1.12507704048458	0.98573	18.67087	0.981925618656443	0.98247	17.777	0.999999999687961	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.063197	0.01477	0	0.058706	0.01089	0	0.983073	0.89660	5.53	5.53	0.82530	5.452000	0.66380	8.724000	0.78169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.021	0.89178	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	43.78	35	chr10	110812948	.	G	C	43.78	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.396e+00;DP=1146;ExcessHet=0.0000;FS=139.108;InbreedingCoeff=-0.1187;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=1.27;SOR=8.005	GT:AD:DP:GQ:PL	0/1:74,16:99:55:55,0,1211	14	0	1	6
chr10	116597866	116597866	G	A	exonic	PNLIPRP1	.	nonsynonymous SNV	PNLIPRP1:NM_001303135:exon7:c.G613A:p.E205K	.	.	.	.	.	.	.	.	.	.	.	2772804	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.94	P	0.798	P	0.005	N	1.000	D	1.55	L	-2.74	D	0.221	D	0.708	D	0.542	2.951	15.84	5.01	2.484	2.067	11.045	0.493	0.0496467518725	.	.	0.0001	9.61e-05	0	0	0	2.997e-05	0.0033	0.0006	0.0001035	16	154602	rs782187986	7.251e-05	7.251e-05	3.948e-05	0.0001	0.0008	6.114e-05	5.699e-05	0.0007	0.0006	0	0	0	0	0	0	2.608e-05	8.279e-05	0.0008	1.971e-05	1.97e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.316	0.13744	T	0.85	0.19421	T	0.94	0.52768	P	0.798	0.58097	P	0.005030	0.33162	N	0.215603	0.834942	0.34976	D	1.25	0.31749	L	-2.74	0.90735	D	-2.53	0.55339	D	0.272	0.31140	0.221	0.86269	D	0.708	0.89966	D	10	0.10933983	0.20392	T	0.049647	0.63902	D	0.493	0.77910	0.512	0.61000	0.86862714507	0.86734	0.5680053342377415	0.56728	0.0522162305088	0.05745	0.408251941204	0.26215	T	0.302894	0.76816	T	-0.216143	0.18522	T	-0.156055	0.58706	T	0.164982731159837	0.18232	T	0.810419	0.46414	T	0.516077	0.68033	0.36304104	0.61698	0.516077	0.68034	0.36304104	0.61697	-4.765	0.34180	T	.	.	0.068	0.14979	B	.;.;.;.;.	.;.;.;.;.	3.277214	0.44887	22.0	0.99762231585129202	0.85172	0.38028	0.25895	N	AEFDHCI	0.643225	0.61991	D	0.203695301125046	0.51377	3.319526	0.177458744852194	0.48615	3.074999	0.999730241746679	0.42341	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	0.708000	0.25393	6.671000	0.56279	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.970000	0.54328	0.0874:0.0:0.9126:0.0	11.045	0.47070	626	0.65439	Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin;Lipase/vitellogenin;Lipase/vitellogenin|Lipase, 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	1634.98	42	chr10	116597866	.	G	A	1634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.006e+00;DP=1276;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-2.100e-01;SOR=0.596	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1649,0,1920	20	0	1	0
chr10	119500192	119500192	T	G	exonic	RGS10	.	nonsynonymous SNV	RGS10:NM_001005339:exon5:c.A467C:p.K156T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.28	B	0.32	B	0.000	D	0.998	D	0.75	N	4.43	T	-0.756	T	0.009	T	0.584	1.135	9.627	3.51	0.449	2.977	10.750	0.181	0.017206204565	.	0.000199681	8.246e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs200276250	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.566e-06	6.562e-06	0	1.343e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.287	0.15149	T	0.324	0.22359	T	0.28	0.32073	B	0.303	0.41729	B	0.000013	0.62929	D	0.068155	0.979819	0.43985	D	2.045	0.56016	M	4.43	0.02158	T	0.26	0.04380	N	0.483	0.53620	-0.7562	0.57609	T	0.009	0.03096	T	10	0.09441623	0.16787	T	0.017206	0.38815	T	0.181	0.45247	.	.	0.246926113748	0.24311	0.7623894347742252	0.76186	1.07505341604	0.76932	0.548147797585	0.45597	T	0.160198	0.50394	T	-0.103626	0.35822	T	-0.386628	0.34946	T	0.59091579914093	0.36042	D	0.834817	0.50404	T	0.14332642	0.32945	0.06227343	0.12156	0.14332642	0.32945	0.06227343	0.12155	-4.697	0.66014	T	.	.	0.429	0.61135	A	.;.;.	.;.;.	2.793723	0.36732	20.3	0.92850047010860048	0.22389	0.90684	0.52066	D	AEFBI	0.523320	0.54697	D	-0.168133192005855	0.34466	1.967594	-0.0215080023919006	0.38744	2.287149	0.999974253027882	0.50053	0.744818	0.98587	0	0.732433	0.95613	0	0.693144	0.63139	0	0.633917	0.49826	0	.	.	5.91	3.51	0.39297	2.977000	0.48988	4.185000	0.42364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1302:0.0:0.8698	10.750	0.45401	969	0.06854	.;RGS 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	1108.98	34	chr10	119500192	.	T	G	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.732e+00;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.21;ReadPosRankSum=-1.260e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:81,54:135:99:1123,0,2062	20	0	1	0
chr10	122424224	122424224	C	T	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001377252:exon7:c.C563T:p.P188L	.	.	475	1045	1	1	0	3	0.00143335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.846	P	0.000	D	1.000	D	0.37	N	-1.28	T	-0.482	T	0.394	T	0.665	1.739	11.77	5.23	2.601	4.919	17.345	0.497	.	7.7e-05	0.00199681	0.0013	0.0002	0.0002	0	0	0	0	0.0091	0.0010543	163	154602	rs369346661	0.0005	0.0005	0.0003	0.0007	0.0081	0.0005	0.0005	0.0076	0.0074	3.202e-05	0	0	2.552e-05	0	0.0004	1.195e-05	0.0007	0.0081	0.0002	0.0002	0.0001	0.0003	0.0069	0.0002	0.0001	0.0049	0.0043	2.614e-05	0	7.364e-05	0	0	0	0	0	0	0.0069	0.722	0.03903	T	0.815	0.03933	T	0.3	0.32550	B	0.134	0.33146	B	0.000001	0.84330	D	0.098233	1	0.81001	D	0.96	0.23930	L	-1.28	0.79376	T	-2.01	0.51811	N	0.563	0.60071	-0.4818	0.69302	T	0.394	0.74728	T	10	0.01769185	0.00379	T	.	.	.	0.497	0.78163	.	.	0.755409305499	0.75319	0.41368089753433207	0.41284	1.11328925088	0.78107	0.838526129723	0.87870	D	0.591175	0.86759	D	-0.194207	0.21642	T	-0.0459096	0.67301	D	0.0583529300163201	0.06907	T	0.89741	0.65583	D	0.34864414	0.56961	0.15176828	0.35736	0.34864414	0.56961	0.15176828	0.35735	-10.847	0.79505	D	.	.	0.223	0.45458	B	.;.;.;.;.	.;.;.;.;.	4.677543	0.74826	26.2	0.78897379725711947	0.12501	0.96378	0.68846	D	AEFBI	0.613640	0.60125	D	0.0722204569686132	0.45171	2.778071	0.219036091592981	0.50903	3.277705	0.999918176705967	0.45857	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	4.753000	0.61880	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.345	0.87195	934	0.15400	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin 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	0.02381	771.98	40	chr10	122424224	.	C	T	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=925;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.08;ReadPosRankSum=-5.750e-01;SOR=0.596	GT:AD:DP:GQ:PL	0/1:74,35:109:99:786,0,1794	20	0	1	0
chr10	122589168	122589168	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_017579:exon16:c.C1978T:p.R660C	.	.	413	1098	10	1	0	12	0.00543478	.	.	701228	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.966	D	0.346	N	1.000	N	3.15	M	0.91	T	-0.958	T	0.061	T	0.092	0.246	5.330	-7.58	-1.908	-6.405	4.469	0.069	.	0.0007	0.0153754	0.0094	0.0014	0.0237	0.0629	0.0002	0.0002	0.0023	0.0182	0.0083311	1288	154602	rs2277237	0.0034	0.0034	0.0031	0.0037	0.0577	0.0033	0.0033	0.0557	0.0549	0.0007	0.0212	0	0.0577	0.0001	0.0014	0.0001	0.0050	0.0158	0.0043	0.0045	0.0034	0.0053	0.0586	0.0040	0.0039	0.0529	0.0507	0.0008	0	0.0144	0.0006	0.0586	0.0001	0	0.0002	0.0034	0.0201	0.053	0.38863	T	0.056	0.47581	T	0.999	0.77913	D	0.966	0.71341	D	0.346431	0.13884	N	0.628298	1	0.08975	N	2.95	0.84923	M	0.91	0.44856	T	-2.13	0.50666	N	0.289	0.32701	-0.9578	0.39589	T	0.061	0.25383	T	10	0.010686815	0.00237	T	.	.	.	0.069	0.20116	.	.	0.422524665647	0.41870	0.39274479383976457	0.39189	0.0662238468404	0.07386	0.522718131542	0.42009	T	0.189602	0.54388	T	-0.660801	0.00062	T	-0.677181	0.07157	T	0.0541249352766777	0.06210	T	0.238576	0.05837	T	0.057915565	0.11586	0.069629125	0.14694	0.057915565	0.11585	0.069629125	0.14694	-10.531	0.77077	D	.	.	0.541	0.69624	A	.;.;.;.;.	.;.;.;.;.	0.902079	0.12763	9.279	0.75470117659225089	0.11087	0.02508	0.07000	N	AEFBI	0.253850	0.37327	N	-1.42925389935304	0.02385	0.1052549	-1.69951357191706	0.01139	0.05124193	0.999989247556836	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.19	-7.58	0.01172	-6.642000	0.00072	.	.	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.3782:0.2063:0.3461:0.0695	4.469	0.11122	809	0.43032	.;.;.;SRCR domain|SRCR domain|SRCR-like domain;SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2388.98	34	chr10	122589168	.	C	T	2388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1035;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.40;ReadPosRankSum=0.610;SOR=0.736	GT:AD:DP:GQ:PL	0/1:222,101:323:99:2403,0,5896	20	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:89,44:154:99:128,0,1254	4	0	15	2
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:15,0,132,0:147:47:1|1:124021236_CG_C:5232,5277,5627,47,397,0,5277,5627,397,5627:124021236	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|2:15,0,132,0:147:47:1|1:124021236_CG_C:5232,5277,5627,47,397,0,5277,5627,397,5627:124021236	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|1:106,52:158:99:0|1:124989533_G_A:1864,0,4185:124989533	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	0/1:114,40:154:99:994,0,3809	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:126,23:149:99:359,0,3598	2	0	13	6
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V	.	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.194	B	0.09	B	0.000	D	0.999	D	0.55	N	-1.7	D	-0.359	T	0.375	T	0.715	2.521	14.39	5.12	2.665	5.242	16.928	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2443.96	41	chr10	124989594	.	G	A	2443.96	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.716e+00;DP=2367;ExcessHet=2.5830;FS=12.019;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.211;MQ=55.23;MQRankSum=-7.172e+00;QD=2.31;ReadPosRankSum=-2.830e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,17:168:99:0|1:124989594_G_A:214,0,6119:124989594	12	0	7	2
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,16:134:99:0|1:124994489_T_G:317,0,4868:124994489	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|1:118,19:137:99:0|1:124994489_T_G:422,0,4873:124994489	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|1:118,19:137:99:0|1:124994489_T_G:422,0,4816:124994489	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|1:129,24:153:99:0|1:124994523_G_A:528,0,5043:124994523	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	0/1:127,23:150:99:223,0,3720	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	0/1:132,32:164:99:443,0,3782	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|1:140,33:173:99:0|1:124994577_C_A:964,0,5702:124994577	0	0	21	0
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E	.	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.34	B	0.426	B	0.000	D	1.000	D	2.07	M	0.84	T	-0.808	T	0.168	T	0.718	2.749	15.15	-4.33	-0.867	-0.788	14.997	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	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	1	0	0	0	0.125	355.62	71	chr10	125003368	.	G	C	355.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.397;DP=1891;ExcessHet=0.6776;FS=7.526;InbreedingCoeff=-0.1824;MLEAC=5;MLEAF=0.156;MQ=59.18;MQRankSum=-9.875e+00;QD=0.84;ReadPosRankSum=-2.533e+00;SOR=2.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,6:84:17:0|1:125003357_G_A:17,0,3240:125003357	12	0	4	5
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17	.	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1000.95	71	chr10	125003381	.	AC	A	1000.95	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.186e+00;DP=1911;ExcessHet=2.5830;FS=6.426;InbreedingCoeff=-0.2047;MLEAC=7;MLEAF=0.167;MQ=59.12;MQRankSum=-9.613e+00;QD=1.33;ReadPosRankSum=-1.280e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,8:86:99:0|1:125003381_AC_A:101,0,3251:125003381	14	0	7	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V	.	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.971	D	0.000	D	1.000	D	1.955	M	0.56	T	-0.711	T	0.257	T	0.772	1.617	11.36	1.83	0.176	2.720	9.074	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	1450.32	72	chr10	125003448	.	G	C	1450.32	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-9.980e-01;DP=1678;ExcessHet=3.5521;FS=10.491;InbreedingCoeff=-0.3485;MLEAC=10;MLEAF=0.313;MQ=59.04;MQRankSum=-7.966e+00;QD=2.01;ReadPosRankSum=1.23;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,7:74:89:.:.:89,0,2825	8	0	8	5
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L	.	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.955	M	0.4	T	-0.394	T	0.310	T	0.845	3.342	17.25	3.81	1.107	9.869	15.129	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.1	67	chr10	125003450	.	G	A	661.1	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.342e+00;DP=1603;ExcessHet=2.5830;FS=2.196;InbreedingCoeff=-0.2922;MLEAC=8;MLEAF=0.250;MQ=59.24;MQRankSum=-8.454e+00;QD=1.06;ReadPosRankSum=0.993;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,6:73:50:0|1:125003425_G_C:50,0,2795:125003425	9	0	7	5
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19	.	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	626.51	67	chr10	125003453	.	CG	C	626.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.108e+00;DP=1598;ExcessHet=2.5830;FS=2.198;InbreedingCoeff=-0.1999;MLEAC=7;MLEAF=0.167;MQ=59.25;MQRankSum=-8.630e+00;QD=0.99;ReadPosRankSum=0.814;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,6:76:41:0|1:125003425_G_C:41,0,2921:125003425	14	0	7	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N	.	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.926	P	0.711	P	0.000	D	1.000	D	1.24	L	-1.65	D	0.171	D	0.548	D	0.535	3.112	16.40	4.72	2.350	9.476	18.050	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.11	63	chr10	125003460	.	G	T	661.11	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.362e+00;DP=1555;ExcessHet=2.5830;FS=3.478;InbreedingCoeff=-0.2923;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.513e+00;QD=1.08;ReadPosRankSum=0.369;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,6:74:47:0|1:125003425_G_C:47,0,2837:125003425	9	0	7	5
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T	.	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.766	P	0.000	D	1.000	D	1.67	L	-2.02	D	0.518	D	0.688	D	0.829	3.996	20.5	4.72	2.350	9.750	18.050	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	704.07	63	chr10	125003466	.	G	T	704.07	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-1.194e+00;DP=1529;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2613;MLEAC=8;MLEAF=0.222;MQ=59.27;MQRankSum=-8.513e+00;QD=1.19;ReadPosRankSum=0.161;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,6:74:47:0|1:125003425_G_C:47,0,2837:125003425	11	0	7	3
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V	.	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.674	P	0.000	D	1.000	D	1.795	L	-2.03	D	0.404	D	0.665	D	0.926	3.651	18.56	4.72	2.350	5.914	18.050	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	682.08	63	chr10	125003468	.	C	A	682.08	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-9.480e-01;DP=1516;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2727;MLEAC=8;MLEAF=0.235;MQ=59.27;MQRankSum=-8.454e+00;QD=1.16;ReadPosRankSum=-3.400e-02;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,6:73:50:0|1:125003425_G_C:50,0,2795:125003425	10	0	7	4
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K	.	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.936	P	0.548	P	0.000	N	1.000	D	1.795	L	-1.74	D	-0.145	T	0.509	D	0.535	2.434	14.10	2.83	0.513	1.589	5.756	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	672.89	63	chr10	125003470	.	G	T	672.89	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.170e-01;DP=1506;ExcessHet=2.5830;FS=6.678;InbreedingCoeff=-0.2894;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.448e+00;QD=1.17;ReadPosRankSum=-2.280e-01;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,6:73:50:0|1:125003425_G_C:50,0,2795:125003425	9	0	7	5
chr10	125027401	125027401	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.T359A:p.V120E,	.	.	434	1072	15	1	0	17	0.00786673	.	.	2809740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.095	B	0.032	B	0.000	N	1.000	N	.	.	-3.25	D	-0.275	T	0.619	D	0.132	0.695	7.713	-8.69	-1.799	-0.314	9.598	0.212	0.0590307634611	0.0012	0.00179712	0.0027	0.0002	0.0021	0.0001	0	0.0021	0.0055	0.0093	0.0003622	56	154602	rs145765785	0.0017	0.0017	0.0014	0.0020	0.0206	0.0016	0.0016	0.0176	0.0165	0.0004	0.0022	0.0186	0	0	0.0206	0.0007	0.0031	0.0086	0.0015	0.0015	0.0014	0.0016	0.0085	0.0014	0.0013	0.0064	0.0057	0.0001	0	0.0014	0.0205	0	0	0.0102	0.0013	0.0028	0.0085	0.089	0.32141	T	0.281	0.21612	T	0.095	0.25437	B	0.032	0.22131	B	0.000008	0.00162	N	31.999700	1	0.08975	N	.	.	.	-3.25	0.93532	D	-0.21	0.10308	N	0.192	0.21056	-0.2750	0.75676	T	0.619	0.86572	D	9	0.00432235	0.00087	T	0.059031	0.67525	D	0.212	0.50341	.	.	0.45964064346	0.45589	0.0817645669245146	0.08111	0.176838138355	0.19898	0.313767671585	0.12477	T	.	.	.	-0.398383	0.02373	T	-0.33877	0.40484	T	0.0334856584668159	0.02551	T	0.30297	0.05734	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.100	0.16973	B	.	.	-1.128471	0.00608	0.016	0.6511562735489177	0.07682	0.13039	0.17628	N	AEFDBCI	0.174456	0.30158	N	-1.36632051535727	0.02959	0.1314718	-1.53629873574645	0.02072	0.09473427	0.999999986112731	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.633826	0.45126	0	0.491896	0.07777	0	.	.	4.54	-8.69	0.00741	0.108000	0.15232	-1.646000	0.04994	-0.533000	0.04955	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1958:0.1919:0.6123:0.0	9.598	0.38752	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	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	4432.68	42	chr10	125027401	.	A	T	4432.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.25;DP=1234;ExcessHet=0.3300;FS=3.262;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-3.200e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/1:80,79:159:99:2085,0,2155	18	0	3	0
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|1:149,14:163:99:0|1:125039033_T_A:139,0,6177:125039033	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|1:149,14:163:99:0|1:125039033_T_A:139,0,6177:125039033	9	0	12	0
chr10	127175644	127175644	G	A	exonic	INSYN2A	.	nonsynonymous SNV	INSYN2A:NM_001039762:exon4:c.C752T:p.T251M,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.979	D	0.001	D	1.000	D	2.125	M	0.84	T	-0.535	T	0.266	T	0.54	2.576	14.57	4.02	2.530	2.909	12.552	0.153	0.104640038835	7.7e-05	0.000399361	0.0003	0.0001	8.792e-05	0.0001	0	0.0002	0	0.0016	0.0002781	43	154602	rs377391223	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	8.962e-05	4.474e-05	0	2.519e-05	1.896e-05	0	9.083e-05	0.0002	0.0017	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0001	0.0013	0.0010	0.0002	0	0	0	0.0002	0	0	0.0002	0.0005	0.0023	0.002	0.72154	D	0.005	0.74150	D	0.999	0.77913	D	0.903	0.64103	P	0.000508	0.43753	D	0.234553	1	0.81001	D	.	.	.	0.84	0.47477	T	-3.2	0.64710	D	0.635	0.67564	-0.5350	0.67353	T	0.266	0.63727	T	10	0.03774771	0.02148	T	0.10464	0.77932	D	0.153	0.40148	.	.	0.138757226776	0.13463	0.41978551448570983	0.41894	0.585234560638	0.54173	0.698648750782	0.66948	T	0.155055	0.49661	T	-0.345499	0.05016	T	-0.30444	0.44254	T	0.355480134487152	0.27233	T	0.889211	0.62120	D	0.15573731	0.35183	0.29407653	0.55437	0.15573731	0.35183	0.29407653	0.55436	-4.634	0.32596	T	.	.	0.176	0.55583	B	.;.;.	.;.;.	4.278665	0.65153	24.8	0.99861845715737918	0.94002	0.91548	0.53760	D	AEFDBI	0.249974	0.37011	N	0.445590630075882	0.63954	4.639401	0.332835672451195	0.57480	3.913791	0.999897112068674	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.02	4.02	0.45968	3.050000	0.49568	11.463000	0.92833	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.081000	0.17303	0.0:0.0:0.8332:0.1668	12.552	0.55580	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1377.98	33	chr10	127175644	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.337e+00;DP=866;ExcessHet=0.0000;FS=2.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.00;SOR=0.794	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1392,0,1510	20	0	1	0
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.982	D	0.906	P	0.000	D	1.000	D	2.14	M	.	.	-0.212	T	0.400	T	0.537	2.704	15.00	4.3	2.342	1.601	17.659	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	231.1	34	chr10	131970666	.	G	A	231.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.343e+00;DP=1361;ExcessHet=0.1072;FS=143.037;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.67;MQRankSum=0.056;QD=0.45;ReadPosRankSum=2.07;SOR=8.349	GT:AD:DP:GQ:PL	0/1:196,75:271:99:213,0,3946	19	0	2	0
chr10	133186103	133186103	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G755A:p.R252Q,	.	.	389	1129	4	0	0	4	0.00176835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.964	D	0.267	B	0.351	N	1.000	N	-0.55	N	2.77	T	-0.985	T	0.010	T	0.07	-0.379	2.217	-5.34	-2.075	-1.654	0.18	0.066	.	0.0033	0.00239617	0.0051	0.0006	0.0016	0.0003	0.0019	0.0080	0	0.0025	0.003758	581	154602	rs201213037	0.0067	0.0067	0.0068	0.0066	0.0081	0.0066	0.0066	0.0079	0.0079	0.0009	0.0014	0.0005	5.113e-05	0.0035	0.0013	0.0081	0.0051	0.0022	0.0044	0.0044	0.0049	0.0039	0.0078	0.0041	0.0040	0.0072	0.0070	0.0016	0.0110	0.0013	0.0003	0	0.0025	0	0.0078	0.0024	0.0025	0.691	0.04289	T	0.645	0.07518	T	0.964	0.55854	D	0.267	0.39770	B	0.350761	0.04243	N	2.366740	1	0.08975	N	.	.	.	2.77	0.17271	T	0.49	0.02993	N	0.074	0.04790	-0.9848	0.33879	T	0.010	0.03719	T	10	0.004485905	0.00092	T	.	.	.	0.066	0.19193	.	.	0.0297737177859	0.01360	0.16293713084848604	0.16213	0.211569426823	0.23658	0.39008924365	0.23682	T	0.01885	0.15125	T	-0.714668	0.00030	T	-0.793092	0.02081	T	0.000954571706799216	0.00009	T	0.478452	0.14421	T	0.0155137	0.00142	0.0211115	0.00174	0.0155137	0.00142	0.0211115	0.00174	-3.505	0.16501	T	.	.	0.072	0.04889	B	.;.	.;.	0.266516	0.06444	2.918	0.79203391823998037	0.12636	0.00491	0.02326	N	AEFDBI	0.022942	0.01212	N	-1.79102399814421	0.00567	0.02443908	-1.89967322269335	0.00490	0.02172874	0.934597831138304	0.27177	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.67	-5.34	0.02496	-0.957000	0.03971	-0.832000	0.07252	-1.383000	0.01158	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2911:0.2681:0.1659:0.2749	0.18	0.00114	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1097.98	34	chr10	133186103	.	G	A	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e+00;DP=1002;ExcessHet=0.0000;FS=0.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.15;ReadPosRankSum=-1.207e+00;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,44:68:99:0|1:133186098_G_C:1112,0,564:133186098	20	0	1	0
chr11	197698	197698	C	T	exonic	ODF3	.	nonsynonymous SNV	ODF3:NM_001286136:exon3:c.C247T:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.944	P	0.451	P	0.001	D	1.000	N	0.69	N	1.57	T	-1.045	T	0.016	T	0.092	0.493	6.677	0.84	0.467	0.060	9.464	0.050	.	0.0114	0.00698882	0.0029	0.0323	0.0007	0	0	4.53e-05	0	0	0.0026908	416	154602	rs116532705	0.0010	0.0010	0.0012	0.0008	0.0359	0.0009	0.0009	0.0342	0.0335	0.0359	0.0017	0	0	0	0.0009	3.058e-05	0.0021	4.637e-05	0.0094	0.0094	0.0094	0.0093	0.0328	0.0089	0.0088	0.0313	0.0307	0.0328	0	0.0031	0	0	0	0.0034	8.821e-05	0.0043	0	0.045	0.40832	D	0.141	0.42261	T	0.884	0.48618	P	0.361	0.43233	B	0.000968	0.40836	D	0.000000	1	0.81001	D	0	0.06538	N	1.57	0.29866	T	0.27	0.05810	N	0.29	0.38232	-1.0450	0.15825	T	0.016	0.06425	T	10	0.002168566	0.00031	T	.	.	.	0.050	0.13987	.	.	0.082315109003	0.07666	0.43451691335042025	0.43368	0.249293676773	0.27503	0.28443646431	0.08119	T	0.003813	0.03222	T	-0.604174	0.00138	T	-0.615563	0.11537	T	0.0441919692538189	0.04455	T	0.719828	0.35329	T	0.13281366	0.30913	0.12940218	0.31114	0.13281366	0.30912	0.12940218	0.31113	-6.334	0.48991	T	.	.	0.086	0.10691	B	.;.	.;.	1.310792	0.17138	12.98	0.93976629099858378	0.24054	0.15029	0.18709	N	AEFBHCI	0.107131	0.21354	N	-0.428130816218397	0.24488	1.322547	-0.45603280450359	0.23377	1.274572	0.7508515795539	0.23358	0.403107	0.06075	0	0.514364	0.08380	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.14	0.84	0.18047	-0.884000	0.04273	0.068000	0.14222	0.524000	0.24156	0.000000	0.06391	0.197000	0.23541	0.957000	0.51019	0.56:0.44:0.0:0.0	9.464	0.37965	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	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	1697.98	39	chr11	197698	.	C	T	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.020e-01;DP=971;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=2.27;SOR=0.618	GT:AD:DP:GQ:PL	0/1:75,72:147:99:1712,0,1996	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	0/2:497,51,146:694:99:4524,3914,24884,0,18334,19917	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	0/2:492,103,188,0:783:99:.:.:6117,3301,24074,0,15705,19267,7629,23909,19971,28061	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	0/1:577,140,58,0:775:99:.:.:4145,0,23805,3430,21796,27478,5873,24227,27656,30096	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|1:576,197,0:773:99:0|1:1017440_C_T:6538,0,23593,8272,24186,32458:1017440	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|1:708,61,0:769:99:0|1:1017458_A_G:430,0,29545,2561,29729,32290:1017458	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|1:582,184,0:766:99:0|1:1017440_C_T:5974,0,23884,7726,24438,32164:1017440	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:672,56,0:767:99:.:.:329,0,28049,2351,28217,30569	3	0	9	6
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:684,90,0:774:99:.:.:1720,0,28365,3779,28636,32415	3	0	10	5
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	0/1:418,170,70,90:748:99:.:.:5889,0,16503,4240,14180,21781,3306,13333,18118,20775	0	0	7	3
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	0/1:440,311,0:751:99:.:.:11584,0,16777,12908,17712,30620	0	0	15	2
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4405.44	578	chr11	1017522	.	T	G,*	4405.44	.	AC=3,3;AF=0.100,0.100;AN=30;BaseQRankSum=1.48;DP=13418;ExcessHet=1.7912;FS=0.769;InbreedingCoeff=-0.2727;MLEAC=4,4;MLEAF=0.133,0.133;MQ=56.24;MQRankSum=-6.364e+00;QD=1.00;ReadPosRankSum=3.23;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:696,64,0:760:99:.:.:402,0,28567,2497,28760,31257	9	0	3	6
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:671,98,0:769:99:.:.:1919,0,26892,3938,27186,31124	5	0	7	5
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q,	.	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.963	D	0.828	P	.	.	1.000	N	1.59	L	2.29	T	-1.044	T	0.055	T	0.046	-0.833	0.590	-0.544	-0.305	-1.592	3.857	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	750.74	261	chr11	1017980	.	G	C	750.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.83;DP=6631;ExcessHet=0.3300;FS=12.893;InbreedingCoeff=-0.0783;MLEAC=3;MLEAF=0.071;MQ=53.95;MQRankSum=-5.417e+00;QD=0.74;ReadPosRankSum=-1.618e+00;SOR=2.433	GT:AD:DP:GQ:PL	0/1:254,19:273:29:29,0,10608	18	0	3	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|1:147,41,0:188:99:0|1:1018116_T_G:1279,0,6049,1722,6173,7894:1018116	5	0	15	0
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	0/2:173,0,13:186:25:.:.:25,546,7799,0,7253,7214	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|1:192,27,0:219:99:0|1:1018256_T_G:556,0,7981,1134,8062,9196:1018256	6	0	10	0
chr11	1031202	1031202	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon5:c.G541A:p.G181R,	.	.	415	1086	21	0	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.008	U	0.990	D	2.64	M	-0.07	T	-0.020	T	0.373	T	0.415	2.792	15.30	3.66	1.778	6.251	15.755	0.427	.	0.0009	0.00279553	0.0081	0.0004	0.0050	0.0005	0.0666	0.0066	0.0176	0.0068	0.0027102	419	154602	rs139011641	0.0022	0.0022	0.0020	0.0024	0.0159	0.0021	0.0021	0.0132	0.0123	0.0005	0.0014	0.0020	2.651e-05	0.0271	0.0159	0.0008	0.0031	0.0061	0.0030	0.0031	0.0016	0.0044	0.0043	0.0028	0.0027	0.0028	0.0024	7.331e-05	0	0.0017	0.0035	0.0002	0.0282	0.0136	0.0013	0.0038	0.0043	0.023	0.48186	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.007972	0.31093	U	0.000000	0.990232	0.41116	D	3.175	0.88760	M	-0.07	0.63738	T	-7.09	0.93950	D	0.471	0.50688	-0.0199	0.81841	T	0.373	0.73197	T	10	0.005497366	0.00121	T	.	.	.	0.427	0.73445	0.749	0.87988	0.802521860083	0.80068	0.8617723739993726	0.86141	0.106557750624	0.12047	0.55417406559	0.46446	T	0.183092	0.53531	T	-0.286525	0.09987	T	-0.182845	0.56258	T	0.191765278577805	0.19948	T	.	.	.	0.33262926	0.55684	0.37870377	0.62942	0.33262926	0.55684	0.37870377	0.62942	-8.624	0.65248	D	.	.	0.240	0.47371	B	.	.	3.293412	0.45176	22.1	0.99634560934350225	0.76264	0.98301	0.81414	D	AEFDBI	0.688841	0.64971	D	0.429867953025855	0.63072	4.534013	0.271884219551687	0.53903	3.557242	0.99998133804765	0.51787	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.66	3.66	0.41111	2.493000	0.44979	1.016000	0.23368	0.527000	0.24520	0.023000	0.19925	0.386000	0.24640	0.018000	0.11154	0.0:1.0:0.0:0.0	15.755	0.77783	835	0.38313	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	rs139011641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	711.11	40	chr11	1031202	.	C	T	711.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.701;DP=821;ExcessHet=0.1072;FS=1.663;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.97;ReadPosRankSum=-3.710e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/1:35,17:52:99:264,0,892	19	0	2	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|1:5,209,0:214:99:1|1:1095948_C_G:8351,549,0,8365,628,8444:1095948	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|1:0,237,0,0:237:99:1|1:1095948_C_G:9206,711,0,9206,711,9206,9206,711,9206,9206:1095948	0	19	0	0
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:460,115,0,0:575:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2450,0,18421,3833,18765,22598,3833,18765,22598,22598:1096141	13	0	5	1
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:460,115,0,0:575:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2450,0,18421,3833,18765,22598,3833,18765,22598,22598:1096141	13	0	5	1
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	0/2:259,67,115:441:99:2504,1189,11491,0,8492,18822	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	0/1:259,67,0:441:99:.:.:1315,0,10302,2734,11153,20532	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	0/1:259,67,0:441:99:.:.:1315,0,10302,2734,11153,20532	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:259,67,115:441:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2731,1417,11719,0,8492,15914:1096141	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:259,0,67:441:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1314,2506,17397,0,10925,10302:1096141	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,67,0:441:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1314,0,10302,2506,10925,17397:1096141	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	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	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,67,0:441:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1314,0,10302,2506,10925,17397:1096141	1	0	11	7
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|1:259,210,0:469:99:0|1:1096191_CCGG_C:6829,0,9834,7839,10954,20361:1096191	0	0	11	8
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,210,0:469:99:0|1:1096191_CCGG_C:6829,0,9834,7839,10954,20361:1096191	0	0	8	11
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,210,0:469:99:0|1:1096191_CCGG_C:6829,0,9834,7839,10954,20361:1096191	0	0	8	11
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	1/1:0,92,0:92:99:.:.:2756,274,0,2949,287,3517	0	19	0	0
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|1:76,9,0:85:99:0|1:1097750_G_A:150,0,3069,378,3096,3474:1097750	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|1:76,9,0:85:99:0|1:1097750_G_A:150,0,3069,378,3096,3474:1097750	13	0	4	3
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|1:88,21,0:109:99:0|1:1098716_A_G:597,0,3570,864,3617,4492:1098716	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|1:91,14,0:105:99:0|1:1098716_A_G:314,0,3779,588,3801,4384:1098716	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|1:93,8,0:101:56:0|1:1098716_A_G:56,0,3877,336,3879,4208:1098716	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|2:93,66,8:167:52:0|1:1098716_A_G:56,52,3805,0,3569,3877:1098716	6	0	3	3
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:181,0,26,0:207:99:.:.:483,1217,10402,0,7471,7021,1217,10402,7471,10402	3	2	3	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	1/2:4,59,183:246:99:.:.:5983,1935,1526,1863,0,2164	0	15	0	0
chr11	1099525	1099525	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	444	1077	1	0	0	1	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.003	B	0.004	B	0.044	U	1.000	N	.	.	2.95	T	-1.005	T	0.015	T	0.199	0.696	7.714	-0.246	0.111	0.224	4.083	0.014	0.0478116854228	.	.	0.0004	0	0	0	0	0.0007	0	0.0003	7.76e-05	12	154602	rs746097670	0.0001	0.0011	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	3.451e-05	0	4.45e-05	0	2.277e-05	0.0004	0.0002	0.0001	8.25e-05	9.239e-05	0.0002	5.164e-05	0.0001	0.0002	5.551e-05	4.383e-05	9.087e-05	7.04e-05	2.417e-05	0	6.569e-05	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1410.33	428	chr11	1099525	.	C	T	1410.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.618e+00;DP=8284;ExcessHet=0.0000;FS=2.183;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=55.49;MQRankSum=3.23;QD=3.43;ReadPosRankSum=0.190;SOR=0.877	GT:AD:DP:GQ:PL	0/1:321,90:411:99:1424,0,11931	19	0	1	1
chr11	1099659	1099659	-	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	417	1094	10	0	1	11	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0	0	0	0.0002	0	0.0006	3.84e-05	1	26028	rs774060881	0.0012	0.0012	0.0011	0.0013	0.0053	0.0011	0.0011	0.0046	0.0044	0.0020	0.0013	0.0022	0.0053	0.0019	0.0008	0.0009	0.0019	0.0023	0.0013	0.0014	0.0012	0.0014	0.0014	0.0011	0.0011	0.0012	0.0011	0.0014	0	0.0012	0.0020	0.0004	0.0008	0	0.0014	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	8962.51	420	chr11	1099659	.	A	AC	8962.51	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.540e-01;DP=7033;ExcessHet=0.1072;FS=5.323;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=58.05;MQRankSum=-7.987e+00;QD=11.75;ReadPosRankSum=3.23;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,155:479:99:0|1:1099659_A_AC:5352,0,12976:1099659	17	0	2	2
chr11	1099661	1099661	-	CTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	exonic	MUC2	.	unknown	UNKNOWN,	.	.	445	603	462	1	11	475	0.277844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	.	0.0006	0.0013	0.0006	0.0007	0.0032	0.0006	0.0006	0.0026	0.0024	0.0014	0.0005	0.0010	0.0032	0.0007	0.0006	0.0004	0.0010	0.0012	0.0015	0.0019	0.0012	0.0018	0.0019	0.0013	0.0012	0.0015	0.0013	0.0019	0	0.0011	0.0026	0.0006	0.0010	0	0.0015	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	23720.71	427	chr11	1099661	.	A	C,ACTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	23720.71	.	AC=4,2;AF=0.143,0.071;AN=28;BaseQRankSum=0.167;DP=7139;ExcessHet=1.7912;FS=4.643;InbreedingCoeff=-0.2923;MLEAC=5,3;MLEAF=0.179,0.107;MQ=58.74;MQRankSum=-9.005e+00;QD=9.92;ReadPosRankSum=1.55;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:331,0,120:453:99:.:.:5368,6411,20105,0,13628,13152	8	0	4	7
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|2:387,0,283:670:99:0|1:1185018_A_C:10718,11883,28133,0,16250,15398:1185018	7	0	3	5
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,186,0:186:99:.:.:7657,570,0,7172,701,7513	3	3	5	0
chr11	1836759	1836759	G	T	exonic	SYT8	.	stopgain	SYT8:NM_001290332:exon7:c.G733T:p.E245X	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.668	T	0.250	T	.	5.276	33	2.97	1.674	3.662	12.933	0.148	.	0.0002	0.000399361	0.0004	0.0004	0.0002	0	0	0.0007	0	0.0002	0.0004269	66	154602	rs143303623	0.0007	0.0007	0.0007	0.0006	0.0024	0.0006	0.0006	0.0015	0.0012	8.962e-05	0.0005	0	0	2.061e-05	0.0024	0.0008	0.0011	0.0001	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	0.0002	0	0.0005	0	0	0	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.216	0.26837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306473	0.83476	D	0.61701	0.97470	D	0.1720072072836	0.18716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.990834	0.97064	37	0.99703991038750162	0.80867	0.95598	0.65363	D	AEFDBI	0.168412	0.29516	N	0.61824333829227	0.74327	6.114168	0.324849365961443	0.57004	3.864801	0.999999999892962	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.97	2.97	0.33479	3.196000	0.50722	1.805000	0.28914	0.614000	0.49286	0.997000	0.40164	0.975000	0.29991	0.086000	0.17578	0.0:0.0:1.0:0.0	12.933	0.57695	988	0.01987	.;.	.	.	.	.	.	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	899.98	39	chr11	1836759	.	G	T	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=941;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-5.640e-01;SOR=1.168	GT:AD:DP:GQ:PL	0/1:35,34:69:99:914,0,897	20	0	1	0
chr11	2421154	2421154	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon3:c.C343A:p.H115N,	.	.	412	1109	1	0	0	1	0.000450653	.	.	2351759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.112	B	0.062	B	0.002	N	0.687	D	2.155	M	3.89	T	-1.057	T	0.013	T	0.246	0.113	4.606	1.81	0.630	1.026	6.374	0.071	0.00973368124059	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780630779	1.151e-05	1.779e-05	1.279e-05	1.02e-05	0.0005	6.82e-06	5.52e-06	0.0001	7.736e-05	0	0	0	0	0	0.0005	1.114e-05	1.73e-05	0	1.97e-05	1.97e-05	2.569e-05	1.344e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0032	2.94e-05	0	0	0.42	0.11442	T	1.0	0.01155	T	0.112	0.26290	B	0.062	0.26930	B	0.001745	0.38106	N	0.164709	0.687344	0.33292	D	2.555	0.74557	M	3.89	0.03544	T	-2.86	0.60188	D	0.372	0.41754	-1.0566	0.12621	T	0.013	0.05273	T	10	0.18904543	0.34486	T	0.009734	0.25404	T	0.071	0.20720	0.595	0.72494	0.0138822411134	0.00435	0.546095618406618	0.54535	0.122578150867	0.13811	0.671990990639	0.63121	T	0.499817	0.82067	T	-0.225239	0.17283	T	-0.561317	0.16254	T	0.226745113730431	0.21795	T	0.734027	0.34984	T	0.07493133	0.16850	0.0864613	0.20033	0.07493133	0.16850	0.0864613	0.20033	-12.288	0.86225	D	.	.	0.196	0.44948	B	.;.;.;.	.;.;.;.	1.571662	0.20120	14.60	0.68587171644204692	0.08704	0.80201	0.39902	D	AEFDBCI	0.370597	0.45691	N	-0.602369616972555	0.18872	0.9833398	-0.642724795225249	0.18401	0.9827925	0.99976107754869	0.42728	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.691587	0.68394	0	.	.	3.97	1.81	0.24139	1.900000	0.39460	0.735000	0.21116	0.618000	0.50648	0.976000	0.34826	0.071000	0.22219	0.200000	0.21896	0.2746:0.0:0.7254:0.0	6.374	0.20703	988	0.01987	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1441.98	33	chr11	2421154	.	G	T	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.410e-01;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-5.550e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1456,0,1932	20	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.052	B	0.033	B	0.833	N	1.000	N	0.915	L	1.16	T	-0.999	T	0.037	T	0.164	-0.591	1.351	-8.76	-1.815	-4.083	0.705	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	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	1	0	0	0	0.2	605.95	69	chr11	4488904	.	C	G,T	605.95	.	AC=5,3;AF=0.125,0.075;AN=40;BaseQRankSum=-2.135e+00;DP=2224;ExcessHet=3.5521;FS=176.401;InbreedingCoeff=-0.2568;MLEAC=5,3;MLEAF=0.125,0.075;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.714;SOR=12.957	GT:AD:DP:GQ:PL	0/1:78,27,19:124:94:94,0,1343,179,1283,1546	12	0	5	1
chr11	4882443	4882443	-	ACCACCCC	exonic	OR51T1	.	frameshift insertion	OR51T1:NM_001004759:exon1:c.544_545insACCACCCC:p.E185Tfs*5,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	0.00219649	0.0065	0.0019	0.0020	0.0001	0.0044	0.0103	0.0088	0.0008	0.0011526	30	26028	rs564566592	0.0085	0.0086	0.0087	0.0084	0.0103	0.0084	0.0084	0.0102	0.0101	0.0015	0.0028	0.0055	2.52e-05	0.0049	0.0009	0.0103	0.0058	0.0008	0.0059	0.0059	0.0064	0.0054	0.0103	0.0056	0.0055	0.0096	0.0094	0.0015	0.0088	0.0044	0.0043	0.0002	0.0038	0	0.0103	0.0038	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4218.94	33	chr11	4882443	.	T	TACCACCCC	4218.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.160e-01;DP=954;ExcessHet=0.0000;FS=11.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.95;ReadPosRankSum=0.556;SOR=0.699	GT:AD:DP:GQ:PL	0/1:131,104:237:99:4233,0,5145	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	1/2:0,38,57,0,0,0:95:99:.:.:3319,2275,2505,1108,0,1290,3410,2474,1364,3755,3410,2474,1364,3755,3755,3410,2474,1364,3755,3755,3755	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	1/2:0,38,57,0,0,0:95:99:.:.:3319,2275,2505,1108,0,1290,3410,2474,1364,3755,3410,2474,1364,3755,3755,3410,2474,1364,3755,3755,3755	0	5	0	0
chr11	6498331	6498331	A	G	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon2:c.A116G:p.Q39R	.	.	424	1089	8	1	0	10	0.00457038	.	.	713013	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.004	B	0.004	B	0.015	N	1.000	N	0.895	L	2.64	T	-1.040	T	0.034	T	0.123	1.953	12.49	2.85	0.929	0.780	6.125	0.043	.	0.0002	0.00399361	0.0020	0.0002	0.0022	0	0.0003	0.0008	0.0033	0.0093	0.0017982	278	154602	rs140872512	0.0014	0.0014	0.0012	0.0016	0.0076	0.0013	0.0013	0.0071	0.0069	0.0003	0.0027	0.0010	0	0.0003	0.0036	0.0010	0.0019	0.0076	0.0010	0.0010	0.0008	0.0011	0.0066	0.0008	0.0008	0.0048	0.0042	0.0002	0	0.0026	0.0003	0	0	0.0034	0.0009	0.0024	0.0066	0.538	0.09128	T	0.0	0.92824	D	0.004	0.12183	B	0.004	0.10090	B	0.015371	0.28265	N	0.251150	1	0.08975	N	1.04	0.26193	L	1.67	0.27331	T	-0.88	0.32185	N	0.105	0.20528	-1.0400	0.17313	T	0.034	0.14813	T	10	0.00371477	0.00069	T	.	.	.	0.043	0.11576	.	.	0.258283824007	0.25425	0.17349271139081857	0.17269	0.126673817958	0.14272	0.250474870205	0.03818	T	0.009248	0.08431	T	-0.609161	0.00128	T	-0.641538	0.09557	T	0.00466466240997347	0.00050	T	0.40366	0.10339	T	0.055514015	0.10798	0.062225383	0.12142	0.055514015	0.10797	0.062225383	0.12141	-3.246	0.13051	T	.	.	0.071	0.06896	B	.;.;.	.;.;.	0.635637	0.10040	6.792	0.97041448522657536	0.32113	0.14574	0.18475	N	AEFDBCIJ	0.038647	0.05500	N	-0.798425020604011	0.13352	0.6570904	-0.801763829627763	0.14453	0.755228	0.982952066627204	0.30481	0.632932	0.41330	0	0.577304	0.33150	0	0.601832	0.32385	0	0.491896	0.07777	0	.	.	5.18	2.85	0.32333	0.775000	0.26351	-0.267000	0.10379	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.8001:0.0:0.1999:0.0	6.125	0.19391	496	0.76301	.;.;.	.	.	.	.	.	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	1477.98	45	chr11	6498331	.	A	G	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.854e+00;DP=937;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.781;SOR=0.709	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1492,0,2017	20	0	1	0
chr11	6557386	6557386	-	GAG	exonic	DNHD1	.	nonframeshift insertion	DNHD1:NM_144666:exon25:c.8091_8092insGAG:p.E2703_R2704insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2318.05	86	chr11	6557383	.	TGAG	TGAGGAG,T	2318.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.149;DP=1347;ExcessHet=0.1072;FS=0.543;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.318;SOR=0.616	GT:AD:DP:GQ:PL	0/1:66,58,0:124:99:2203,0,2543,2402,2718,5120	19	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	0/1:53,57,0:110:99:.:.:1558,0,1437,1566,1674,3480	6	2	6	4
chr11	20654770	20654770	C	T	exonic	SLC6A5	.	nonsynonymous SNV	SLC6A5:NM_001318369:exon15:c.C1594T:p.R532C	Hyperekplexia 3, Autosomal recessive, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	565587	not_provided|Hyperekplexia_3	MedGen:C3661900|MONDO:MONDO:0013827,MedGen:C3553288,OMIM:614618,Orphanet:3197	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.04	L	-0.98	T	-0.030	T	0.497	T	0.935	4.641	25.5	6.04	2.873	5.645	20.595	0.668	0.144065731983	0.0002	.	6.589e-05	0	8.637e-05	0.0001	0	7.492e-05	0	6.056e-05	5.17e-05	8	154602	rs141654146	6.772e-05	6.84e-05	6.67e-05	6.876e-05	0.0002	5.67e-05	5.261e-05	5.597e-05	5.11e-05	5.974e-05	6.708e-05	0.0001	5.038e-05	1.872e-05	0.0002	6.835e-05	0.0002	1.159e-05	9.203e-05	9.194e-05	0.0001	8.072e-05	0.0003	5.53e-05	4.366e-05	0.0001	8.292e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.63	0.76995	M	-0.98	0.75789	T	-6.37	0.91058	D	0.829	0.82458	-0.0304	0.81622	T	0.497	0.80970	T	10	0.8916859	0.88512	D	0.144066	0.82634	D	0.668	0.87674	.	.	0.940235433313	0.93961	0.9221167165127621	0.92188	0.897781079154	0.70522	0.867640852928	0.92230	D	0.55024	0.84758	D	0.261804	0.79696	D	0.318583	0.89030	D	0.597534714376087	0.36303	D	0.990629	0.97089	D	0.6635367	0.76088	0.7270059	0.83873	0.6635367	0.76089	0.7270059	0.83874	-13.36	0.90792	D	.	.	0.972	0.89681	P	.	.	5.169816	0.86649	29.0	0.99945074009890156	0.99886	0.96269	0.68318	D	AEFGBI	0.868646	0.78886	D	0.705735089509847	0.80010	7.20014	0.746993452959186	0.85931	8.730487	0.988033399756642	0.31402	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.04	6.04	0.98025	5.720000	0.68118	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	20.595	0.99442	848	0.35897	.	.	.	.	.	.	Uncertain significance	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	1493.98	34	chr11	20654770	.	C	T	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=941;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-9.640e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/1:81,59:140:99:1508,0,2073	20	0	1	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I,	.	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.027	B	0.015	B	0.751	N	1.000	N	0.575	N	-1.56	D	-0.958	T	0.086	T	0.088	0.556	7.009	2.53	0.332	0.209	6.128	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	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	5584.92	36	chr11	26721693	.	C	T	5584.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.346;DP=1020;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.186;SOR=0.699	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1577,0,1551	17	0	4	0
chr11	31539740	31539740	T	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_001288725:exon3:c.T338C:p.L113S	.	.	431	1063	27	1	0	29	0.0134571	.	.	701730	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.902	P	0.725	P	0.000	N	0.999	D	2.38	M	0.69	T	-0.652	T	0.226	T	0.886	2.981	15.94	4.19	0.961	4.063	10.875	0.327	.	0.0029	0.00399361	0.0050	0.0005	0.0020	0	0.0017	0.0046	0.0033	0.0153	0.0044825	693	154602	rs201333718	0.0047	0.0047	0.0043	0.0051	0.0146	0.0046	0.0046	0.0139	0.0136	0.0007	0.0022	0.0046	0	0.0021	0.0078	0.0044	0.0057	0.0146	0.0035	0.0035	0.0035	0.0036	0.0143	0.0033	0.0032	0.0116	0.0106	0.0006	0	0.0022	0.0072	0	0.0020	0	0.0052	0.0038	0.0143	0.001	0.78490	D	0.002	0.92824	D	0.793	0.49745	P	0.48	0.47081	P	0.000219	0.47681	N	0.141600	0.999374	0.46831	D	2.33	0.66821	M	0.69	0.51714	T	-4.05	0.74504	D	0.717	0.71942	-0.6524	0.62609	T	0.226	0.59083	T	10	0.011266887	0.00247	T	.	.	.	0.327	0.64926	.	.	0.757842185581	0.75564	0.893030983477981	0.89273	0.150935704758	0.17036	0.357488334179	0.19020	T	0.124407	0.44941	T	-0.0941433	0.37391	T	0.104967	0.77237	D	0.0459769926850734	0.04779	T	0.759324	0.38363	T	0.54611576	0.69739	0.5094322	0.71650	0.5717868	0.71160	0.6096003	0.77294	-11.428	0.81953	D	.	.	0.339	0.64320	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.879300	0.56368	23.7	0.99659333267524086	0.77820	0.90763	0.52215	D	AEFDBI	0.493549	0.52972	N	0.38074612581872	0.60379	4.226205	0.371876799930466	0.59835	4.165029	0.177405396842463	0.17823	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.32	4.19	0.48645	4.345000	0.59140	3.471000	0.38581	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0754:0.0:0.9246	10.875	0.46112	412	0.82007	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	859.98	38	chr11	31539740	.	T	C	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.532e+00;DP=765;ExcessHet=0.0000;FS=3.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.531;SOR=0.378	GT:AD:DP:GQ:PL	0/1:35,39:74:99:874,0,873	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	1/3:8,13,11,13:58:62:640,62,520,127,197,362,283,0,114,355	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	1/3:8,13,11,13:58:62:640,62,520,127,197,362,283,0,114,355	0	0	0	0
chr11	33328525	33328525	A	G	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon3:c.A1113G:p.I371M	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.985	D	0.000	D	1.000	D	0.755	N	-0.39	T	-0.452	T	0.301	T	0.847	3.158	16.56	5.46	2.185	2.022	7.743	0.542	0.0605426748421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.992	0.77913	D	0.9	0.76457	P	0.000002	0.62929	D	0.000000	0.999997	0.58761	D	1.11	0.28643	L	-0.39	0.69158	T	-2.46	0.53898	N	0.88	0.88687	-0.4517	0.70344	T	0.301	0.67214	T	10	0.82984984	0.82150	D	0.060543	0.68036	D	0.542	0.80901	0.592	0.72123	0.910898013865	0.91000	0.7624165499410834	0.76189	0.733378337434	0.62839	0.904931902885	0.96968	D	0.178239	0.52882	T	0.245192	0.78149	D	0.114425	0.77865	D	0.934089004993439	0.60131	D	0.940906	0.77861	D	0.67721534	0.76819	0.5252721	0.72572	0.67721534	0.76821	0.5252721	0.72573	-9.828	0.72876	D	.	.	0.652	0.71261	P	.;.;.;.	.;.;.;.	4.032489	0.59644	24.1	0.9916180084645162	0.54127	0.86746	0.46093	D	AEFBI	0.294351	0.40474	N	0.44507303671382	0.63923	4.635841	0.47458453703955	0.66310	4.935552	0.999898781480164	0.45129	0.736574	0.97449	0	0.633656	0.55848	0	0.658983	0.55881	0	0.677812	0.66336	0	.	.	5.46	5.46	0.80021	1.502000	0.35312	5.970000	0.51981	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7188:0.1436:0.0:0.1376	7.743	0.28017	380	0.83728	.;Protein kinase domain|Protein kinase 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	1362.98	35	chr11	33328525	.	A	G	1362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.990e-01;DP=804;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-5.640e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1377,0,1366	20	0	1	0
chr11	33351822	33351822	G	A	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon14:c.G2959A:p.D987N	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.002	B	0.002	N	0.804	N	0	N	0.71	T	-1.040	T	0.069	T	0.027	2.348	13.81	4.87	1.428	3.583	11.682	0.066	0.0047017886237	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0004	0.0001294	20	154602	rs200039689	0.0002	0.0002	0.0001	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	0	0	0	2.519e-05	0	0.0010	0.0002	0.0001	0.0003	7.884e-05	7.88e-05	0.0001	5.379e-05	0.0001	4.496e-05	3.512e-05	7.909e-05	5.994e-05	2.413e-05	0	0	0	0	0	0	0.0001	0.0005	0	0.353	0.13306	T	0.656	0.06598	T	0.001	0.07471	B	0.002	0.06944	B	0.002123	0.37183	N	0.184686	0.804372	0.29076	N	1.7	0.43825	L	0.71	0.51474	T	0.66	0.02297	N	0.369	0.41162	-1.0397	0.17404	T	0.069	0.28213	T	10	0.102360606	0.18755	T	0.004702	0.11691	T	0.066	0.19193	.	.	0.589340249404	0.58608	0.2546103426583159	0.25375	0.210666846013	0.23558	0.350961685181	0.18063	T	0.012413	0.10917	T	-0.498737	0.00581	T	-0.648201	0.09080	T	0.0387866619420025	0.03471	T	0.852015	0.53695	D	0.05684792	0.11239	0.0439414	0.05582	0.05684792	0.11239	0.0439414	0.05581	-3.238	0.12951	T	.	.	0.070	0.03625	B	.;.;.;.	.;.;.;.	2.855650	0.37718	20.6	0.99717858075428578	0.81843	0.95826	0.66318	D	AEFBI	0.143468	0.26617	N	-0.342776047200072	0.27538	1.511705	-0.159284474033336	0.33053	1.886703	0.0165585535383871	0.12845	0.706548	0.73137	0	0.724815	0.89359	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	5.79	4.87	0.62877	3.844000	0.55583	5.682000	0.49299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.1343:0.726:0.1397	11.682	0.50723	355	0.85216	.;.;.;.	.	.	.	.	.	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	1607.98	34	chr11	33351822	.	G	A	1607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.340;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-1.907e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1622,0,1306	20	0	1	0
chr11	36633360	36633360	T	A	exonic	IFTAP	.	nonsynonymous SNV	IFTAP:NM_001276722:exon3:c.T213A:p.H71Q	.	.	526	995	1	0	0	1	0.00050226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.037	B	0.022	B	0.073	N	1.000	N	1.01	L	.	.	-1.057	T	0.062	T	0.115	0.234	5.264	0.488	-0.020	-0.212	4.133	0.010	0.00446518183675	.	.	0.0001	0	0	0	0	7.532e-05	0	0.0006	9.06e-05	14	154602	rs780710713	0.0001	0.0001	9.724e-05	0.0001	0.0006	8.704e-05	8.189e-05	0.0004	0.0004	0	0	0	0	0	0	8.667e-05	4.994e-05	0.0006	1.973e-05	1.97e-05	1.285e-05	2.692e-05	0.0004	5.24e-06	2.46e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0004	0.111	0.31383	T	0.265	0.28860	T	0.037	0.20876	B	0.022	0.19653	B	0.073202	0.21361	N	0.442270	1	0.08975	N	1.4	0.35362	L	.	.	.	-3.17	0.75139	D	0.084	0.06059	-1.0566	0.12621	T	0.062	0.25887	T	9	0.04030496	0.02587	T	0.004465	0.10937	T	0.010	0.01040	0.211	0.12923	0.0846915920261	0.08053	0.04490289534071646	0.04434	0.0286869584736	0.02951	.	.	.	0.021097	0.23766	T	-0.464513	0.00921	T	-0.577057	0.14809	T	0.023130853204488	0.01039	T	0.340966	0.07383	T	0.13800533	0.31933	0.12916215	0.31062	0.13800533	0.31933	0.12916215	0.31061	-2.743	0.07671	T	.	.	0.104	0.21049	B	.;.;.;.;.;.	.;.;.;.;.;.	0.226841	0.06087	2.529	0.68365196369490644	0.08636	0.03502	0.08676	N	AEFI	0.083642	0.16945	N	-0.930091649221179	0.10143	0.4833355	-0.968938645904128	0.10488	0.5284905	0.988640598311385	0.31583	0.693126	0.56070	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.29	0.488	0.16056	-0.105000	0.10876	-0.720000	0.07709	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.398000	0.26737	0.0:0.2045:0.1917:0.6038	4.133	0.09627	393	0.83123	.;.;.;.;.;.	.	.	.	.	.	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	1262.98	34	chr11	36633360	.	T	A	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.506;DP=772;ExcessHet=0.0000;FS=5.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.490;SOR=0.613	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1277,0,892	20	0	1	0
chr11	43391538	43391538	G	A	exonic	TTC17	.	nonsynonymous SNV	TTC17:NM_001376526:exon3:c.G403A:p.E135K	.	.	478	1043	1	0	0	1	0.000479157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.95	P	0.716	P	0.000	D	1.000	D	0.345	N	1.56	T	-1.104	T	0.078	T	0.408	4.690	26.0	5.42	2.704	9.568	19.582	0.182	0.00451317853317	.	.	4.945e-05	0	0	0	0	2.999e-05	0	0.0002	3.88e-05	6	154602	rs777268537	1.65e-05	1.779e-05	1.369e-05	1.935e-05	0.0001	1.116e-05	9.38e-06	7.24e-05	5.566e-05	0	2.373e-05	0	0	0	0	9.01e-06	3.329e-05	0.0001	6.591e-06	6.575e-06	1.288e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.128	0.26965	T	0.02	0.58613	D	0.745	0.43117	P	0.159	0.34693	B	0.000003	0.62929	D	0.135609	0.99997	0.53665	D	0.895	0.22405	L	1.56	0.30937	T	-1.48	0.36189	N	0.375	0.41656	-1.1037	0.03672	T	0.078	0.31163	T	10	0.17313498	0.32124	T	0.004513	0.11094	T	0.182	0.45420	0.409	0.44395	0.0934897674506	0.08844	0.5652015378499774	0.56447	0.261723685699	0.28725	0.678525388241	0.64058	T	0.028372	0.20569	T	-0.266329	0.12168	T	-0.340904	0.40242	T	0.178340971469879	0.19130	T	0.974003	0.90706	D	0.21807298	0.44306	0.23877035	0.49209	0.21807298	0.44306	0.23877035	0.49208	-3.769	0.20566	T	.	.	0.120	0.32945	B	.;.	.;.	4.543306	0.71428	25.7	0.99845760449840137	0.92576	0.99272	0.93765	D	AEFBI	0.905933	0.85807	D	0.351458311568091	0.58816	4.056313	0.491320809234906	0.67414	5.080765	0.999999999903993	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	9.671000	0.97894	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.582	0.95466	348	0.85549	.;.	.	.	.	.	.	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	1277.98	35	chr11	43391538	.	G	A	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=790;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.055e+00;SOR=0.774	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1292,0,1173	20	0	1	0
chr11	46890027	46890027	G	A	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon15:c.C2009T:p.T670M,	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	640083	Sclerosteosis_2|Congenital_myasthenic_syndrome_17|Cenani-Lenz_syndactyly_syndrome	MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.963	D	0.000	D	1.000	D	3.205	M	-3.21	D	1.002	D	0.919	D	0.893	4.537	24.5	6.03	2.861	9.476	20.557	0.763	0.582228824338	.	.	1.65e-05	9.654e-05	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs752512047	1.231e-05	1.231e-05	6.806e-06	1.788e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	0	1.159e-05	6.574e-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	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.44	0.92123	M	-3.21	0.93291	D	-4.2	0.75695	D	0.696	0.70088	1.002	0.97230	D	0.919	0.97311	D	10	0.8573454	0.84937	D	0.582229	0.96260	D	0.763	0.91962	0.427	0.47350	0.941773435343	0.94116	0.7450396940428681	0.74449	1.47140903019	0.86538	0.840739965439	0.88208	D	0.748315	0.93083	D	0.432187	0.91643	D	0.479884	0.94199	D	0.996706068515778	0.89904	D	0.944805	0.79065	D	0.47559035	0.65632	0.56002337	0.74544	0.47559035	0.65632	0.56002337	0.74545	-8.738	0.65994	D	.	.	0.581	0.68110	P	.	.	5.465238	0.91209	32	0.99908995602498429	0.97875	0.82931	0.42095	D	AEFDGBCIJ	0.933964	0.92663	D	1.024574542855	0.96450	14.71115	0.980608049802782	0.98217	17.70252	1.0	0.98316	0.631981	0.41245	0	0.858003	0.99906	0	0.779548	0.98927	0	0.599892	0.37169	0	.	.	6.03	6.03	0.97798	9.602000	0.97623	11.868000	0.98498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.446000	0.27806	0.0:0.0:1.0:0.0	20.557	0.99307	12	0.98946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2276.98	83	chr11	46890027	.	G	A	2276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=1617;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=1.14;SOR=0.703	GT:AD:DP:GQ:PL	0/1:66,92:158:99:2291,0,1527	20	0	1	0
chr11	47590314	47590314	G	C	exonic	C1QTNF4	.	nonsynonymous SNV	C1QTNF4:NM_031909:exon2:c.C497G:p.A166G,	.	.	.	.	.	.	.	.	.	.	.	3295043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.003	B	0.002	B	0.231	U	1.000	N	0.69	N	-0.92	T	-0.912	T	0.213	T	0.074	1.827	12.07	2.26	2.086	0.163	4.517	0.160	0.742979258326	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420864182	7.351e-05	7.456e-05	5.167e-05	9.739e-05	0.0019	5.998e-05	5.552e-05	0.0015	0.0014	0	0	0	0	0	0	7.685e-06	7.262e-05	0.0019	4.756e-05	4.616e-05	0	9.763e-05	0.0015	2.174e-05	1.568e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.39	0.10838	T	0.462	0.12526	T	0.003	0.11197	B	0.002	0.06944	B	0.231044	0.03518	U	1.678960	1	0.08975	N	-1.1	0.00987	N	-0.92	0.75108	T	0.07	0.06138	N	0.086	0.06322	-0.9117	0.46645	T	0.213	0.57347	T	10	0.05299875	0.05421	T	0.742979	0.97943	D	0.160	0.41473	0.216	0.13643	0.295226631146	0.29124	0.14810612609150253	0.14732	.	.	0.86514878273	0.91868	D	0.002708	0.02096	T	-0.198256	0.21058	T	-0.522557	0.20036	T	0.202073007822037	0.20529	T	.	.	.	0.06930487	0.15172	0.05433896	0.09326	0.06930487	0.15172	0.05433896	0.09326	-3.255	0.13164	T	.	.	0.059	0.00806	B	.	.	1.807574	0.22973	15.84	0.95934469152264401	0.28225	0.09035	0.14870	N	AEFDBCIJ	.	.	.	-0.59610506282356	0.19063	0.9947376	-0.484176332393736	0.22589	1.227666	0.999971262869227	0.50053	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.603991	0.37454	0	.	.	4.32	2.26	0.27418	0.149000	0.16062	1.930000	0.29765	0.555000	0.28237	0.000000	0.06391	0.395000	0.24683	0.997000	0.79791	0.2321:0.2052:0.5627:0.0	4.517	0.11347	10	0.99061	.	.	.	.	.	.	Uncertain significance	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	420.12	13	chr11	47590314	.	G	C	420.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.560;DP=427;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0505;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.489;SOR=0.324	GT:AD:DP:GQ:PL	0/1:6,10:16:99:214,0,126	19	0	2	0
chr11	47660194	47660194	C	G	exonic	AGBL2	.	nonsynonymous SNV	AGBL2:NM_024783:exon19:c.G2688C:p.L896F,	.	.	.	.	.	.	.	.	.	.	.	3250287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.779	P	0.197	B	0.006	N	1.000	N	1.6	L	2.58	T	-1.027	T	0.022	T	0.258	2.515	14.37	0.485	0.314	0.084	3.372	0.023	0.00574626851004	.	0.000199681	0.0002	0	8.642e-05	0	0	0	0.0011	0.0014	0.0001682	26	154602	rs537747035	0.0001	0.0001	5.718e-05	0.0002	0.0017	9.335e-05	8.818e-05	0.0015	0.0014	0	4.474e-05	0	0	0	0	1.799e-06	9.937e-05	0.0017	4.596e-05	4.593e-05	0	9.401e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.0	0.91255	D	0.076	0.42976	T	0.779	0.44223	P	0.197	0.36707	B	0.006422	0.32040	N	0.000000	0.985213	0.24731	N	1.1	0.28011	L	2.58	0.13434	T	-0.7	0.19933	N	0.197	0.21710	-1.0270	0.21429	T	0.022	0.09330	T	10	0.020067245	0.00456	T	0.005746	0.14892	T	0.023	0.04649	0.24	0.17218	0.176091768786	0.17195	0.11659715920635105	0.11587	0.558280205914	0.52413	0.470350921154	0.34729	T	0.008967	0.08195	T	-0.517038	0.00458	T	-0.540093	0.18287	T	0.185677837903577	0.19586	T	.	.	.	0.1732652	0.38065	0.14537123	0.34480	0.1732652	0.38065	0.14537123	0.34479	-4.162	0.26199	T	.	.	0.106	0.46458	B	.;.	.;.	2.335829	0.29927	18.28	0.98669463717687977	0.44456	0.75015	0.36712	D	AEFGI	0.129927	0.24828	N	-0.250904323778815	0.31068	1.738395	-0.291110651619026	0.28390	1.582625	0.00273276606693919	0.09669	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.79	0.485	0.16040	0.087000	0.14801	0.575000	0.19646	0.549000	0.26987	0.994000	0.38300	0.998000	0.33993	0.924000	0.46004	0.3593:0.4456:0.0:0.1952	3.372	0.06802	10	0.99061	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1377.11	33	chr11	47660194	.	C	G	1377.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.940e-01;DP=740;ExcessHet=0.1072;FS=5.181;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=1.75;SOR=0.347	GT:AD:DP:GQ:PL	0/1:21,17:38:99:454,0,589	19	0	2	0
chr11	50033090	50033090	G	A	exonic	OR4C45	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1240229060	6.162e-05	5.016e-05	4.288e-05	8.101e-05	0.0009	4.953e-05	4.513e-05	0.0007	0.0007	0	0	0	0	0	0	0	5.283e-05	0.0009	1.971e-05	1.969e-05	0	4.031e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	2348.98	36	chr11	50033090	.	G	A	2348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.774e+00;DP=1021;ExcessHet=0.0000;FS=1.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.275;SOR=0.595	GT:AD:DP:GQ:PL	0/1:85,91:176:99:2363,0,2274	20	0	1	0
chr11	56319187	56319187	A	C	exonic	OR8K3	.	nonsynonymous SNV	OR8K3:NM_001005202:exon1:c.A881C:p.K294T,	.	.	.	.	.	.	.	.	.	.	.	3363838	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.216	B	0.191	B	0.008	N	0.917	N	2.375	M	0.9	T	-0.837	T	0.148	T	0.391	0.813	8.271	4.18	1.888	2.595	12.487	0.162	0.00601464091088	.	.	0.0002	0	8.794e-05	0	0	0	0.0011	0.0012	0.0001423	22	154602	rs772916448	9.378e-05	9.508e-05	4.495e-05	0.0001	0.0015	8.097e-05	7.589e-05	0.0013	0.0012	0	4.474e-05	0	0	0	0.0002	1.8e-06	9.939e-05	0.0015	2.628e-05	2.627e-05	0	5.378e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	0.216	0.30161	B	0.191	0.36391	B	0.008122	0.31003	N	0.226639	0.917463	0.27371	N	2.16	0.60381	M	.	.	.	.	.	.	.	.	-0.8370	0.52845	T	0.148	0.47433	T	10	0.031024039	0.01233	T	0.006015	0.15698	T	.	.	0.418	0.45873	.	.	0.13748112576444046	0.13672	.	.	0.19005921483	0.00226	T	0.019516	0.15537	T	-0.420749	0.01691	T	-0.412532	0.31934	T	0.174693159218916	0.18894	T	0.630437	0.24556	T	0.36264455	0.58037	0.39485955	0.64169	0.36264455	0.58037	0.39485955	0.64169	-6.629	0.51274	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	3.200658	0.43526	21.7	0.98987641963286221	0.49861	0.92765	0.56491	D	AEFBI	0.248175	0.36862	N	-0.0627516097519068	0.39034	2.295548	-0.0468265495142603	0.37628	2.205737	1.33589702258011E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	1.782000	0.38284	.	.	0.672000	0.70159	0.623000	0.27939	0.007000	0.19602	0.250000	0.23263	1.0:0.0:0.0:0.0	12.487	0.55220	189	0.92630	.;.;.	.	.	.	.	.	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	2222.11	37	chr11	56319187	.	A	C	2222.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.990;DP=931;ExcessHet=0.1072;FS=3.338;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.48;SOR=0.944	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1249,0,1460	19	0	2	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|2:231,0,33:264:99:0|1:56375918_A_G:676,1372,11067,0,9695,9596:56375918	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:231,0,33:264:99:0|1:56375918_A_G:676,1372,11067,0,9695,9596:56375918	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:231,0,33:264:99:0|1:56375918_A_G:676,1372,11067,0,9695,9596:56375918	1	0	3	1
chr11	56491363	56491363	C	T	exonic	OR5M8	.	nonsynonymous SNV	OR5M8:NM_001005282:exon1:c.G8A:p.R3K,	.	.	.	.	.	.	.	.	.	.	.	3367273	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.001	B	0.338	U	1.000	N	-0.01	N	4.82	T	-0.896	T	0.003	T	0.147	-0.298	2.579	2.15	0.616	-0.176	4.488	0.011	0.00824931817748	.	.	8.005e-05	0	0	0	0	0	0	0.0007	5.82e-05	9	154602	rs780552557	4.425e-05	4.583e-05	2.648e-05	6.233e-05	0.0007	3.535e-05	3.213e-05	0.0006	0.0005	0	0	0	0	0	0	0	3.418e-05	0.0007	1.315e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.851	0.02732	T	0.531	0.10069	T	0.002	0.09854	B	0.001	0.04355	B	0.337645	0.14013	U	0.519226	0.999896	0.19781	N	0.54	0.13725	N	4.82	0.01504	T	0.01	0.06868	N	0.134	0.13055	-0.8961	0.48380	T	0.003	0.01059	T	10	0.035217375	0.01760	T	0.008249	0.21853	T	0.011	0.01250	0.302	0.27003	0.26169431596	0.25797	0.19768901109733303	0.19685	0.00435782311993	0.00387	0.367479592562	0.20470	T	0.005818	0.05268	T	-0.610052	0.00126	T	-0.755493	0.03277	T	0.0153553179164617	0.00342	T	0.122088	0.00949	T	0.07044616	0.15517	0.0545733	0.09411	0.07044616	0.15517	0.0545733	0.09411	-2.872	0.08867	T	.	.	0.091	0.13032	B	.	.	0.442668	0.08128	4.858	0.81945184871694143	0.13940	0.00718	0.03028	N	AEFI	0.025006	0.01640	N	-1.02135045635519	0.08161	0.3817063	-0.990510856391732	0.09997	0.5007966	4.06646340132239E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.11	2.15	0.26590	-0.721000	0.05067	.	.	0.388000	0.20467	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.6324:0.2358:0.1317	4.488	0.11212	259	0.89842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1171.98	33	chr11	56491363	.	C	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.780e-01;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.76;ReadPosRankSum=1.08;SOR=0.646	GT:AD:DP:GQ:PL	0/1:24,42:66:99:1186,0,635	20	0	1	0
chr11	57389943	57389943	A	G	exonic	PRG2	.	startloss	PRG2:NM_001243245:exon2:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.766	P	0.000	D	1.000	D	.	.	2.77	T	0.128	D	0.541	D	0.728	2.194	13.29	3.97	1.726	2.267	9.813	0.293	0.639077478872	.	.	0.0002	0	8.694e-05	0	0	0	0	0.0012	0.0001294	20	154602	rs781351822	7.811e-05	8.003e-05	3.955e-05	0.0001	0.0012	6.61e-05	6.152e-05	0.0010	0.0010	0	4.489e-05	0	0	0	0	1.801e-06	6.631e-05	0.0012	2.628e-05	2.627e-05	0	5.379e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.0	0.91255	D	0.004	0.74150	D	0.991	0.64070	D	0.766	0.56676	P	0.000087	0.51296	D	0.000000	1	0.81001	D	.	.	.	2.77	0.80387	T	-4.45	0.77717	D	0.749	0.74918	0.128	0.84670	D	0.541	0.83099	D	9	0.8974786	0.89104	D	0.639077	0.96919	D	0.293	0.61272	0.995	0.99946	0.924310417531	0.92354	0.6564523094066108	0.65581	.	.	.	.	.	0.636327	0.88792	D	-0.0834596	0.39150	T	0.0568989	0.74039	D	0.358965303043422	0.27369	T	0.9	0.65058	D	0.83422667	0.86198	0.7411312	0.84698	0.83422667	0.86200	0.7411312	0.84699	-9.544	0.71132	D	.	.	0.476	0.63448	A	.;.;.;.	.;.;.;.	2.435894	0.31345	18.71	0.98297466466817129	0.40011	0.88243	0.48084	D	AEFBI	0.183789	0.31111	N	0.387458668056096	0.60741	4.266541	0.353582594765284	0.58723	4.044677	0.939109457746148	0.27372	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	3.97	3.97	0.45241	2.342000	0.43648	4.117000	0.41952	0.756000	0.94297	0.986000	0.36153	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	9.813	0.40003	324	0.86790	.;.;.;.	.	.	.	.	.	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	1690.98	41	chr11	57389943	.	A	G	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.400e-01;DP=927;ExcessHet=0.0000;FS=5.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-1.269e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/1:45,73:118:99:1705,0,991	20	0	1	0
chr11	58624310	58624310	G	A	exonic	CNTF	.	nonsynonymous SNV	CNTF:NM_000614:exon2:c.G391A:p.E131K,	.	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.872	P	0.556	P	.	.	0.915	N	2.015	M	1.25	T	-0.962	T	0.125	T	0.357	3.484	17.82	5.48	2.575	2.047	10.380	0.102	0.0156769220911	.	0.000399361	0.0003	0	8.658e-05	0	0	0.0001	0	0.0019	0.0002846	44	154602	rs202082223	0.0002	0.0002	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	2.987e-05	0.0001	3.826e-05	0	5.616e-05	0.0040	9.982e-05	0.0003	0.0017	0.0001	0.0001	0.0001	0.0001	0.0019	7.591e-05	6.293e-05	0.0010	0.0007	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0019	0.072	0.34982	T	0.225	0.25514	T	0.872	0.47902	P	0.556	0.49411	P	.	.	.	.	0.915232	0.27418	N	2.4	0.69460	M	1.25	0.36512	T	-1.6	0.38540	N	0.17	0.18103	-0.9621	0.38781	T	0.125	0.43049	T	9	0.019503176	0.00436	T	0.015677	0.36546	T	0.102	0.29158	.	.	0.696112660581	0.69349	0.27168748576247176	0.27081	0.168020938621	0.18945	0.434865087271	0.29874	T	0.251565	0.62184	T	-0.422948	0.01638	T	-0.387575	0.34836	T	0.0783024345760878	0.09768	T	0.835616	0.50622	T	0.38231814	0.59484	0.3192124	0.57884	0.38231814	0.59484	0.3192124	0.57883	-4.388	0.29394	T	.	.	0.144	0.31733	B	.	.	3.809875	0.54942	23.5	0.9987914352735181	0.95572	0.74187	0.36288	D	AEFBCI	0.102726	0.20599	N	0.397614660401001	0.61293	4.328381	0.418474032510477	0.62716	4.491794	0.999967803469381	0.48965	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.48	5.48	0.80675	2.142000	0.41802	8.694000	0.78086	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.918000	0.45347	0.0893:0.0:0.9107:0.0	10.380	0.43287	635	0.64580	.	.	.	.	.	.	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	4307.11	36	chr11	58624310	.	G	A	4307.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.69;DP=995;ExcessHet=0.1072;FS=2.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.625;SOR=0.843	GT:AD:DP:GQ:PL	0/1:63,85:148:99:2373,0,1712	19	0	2	0
chr11	59211743	59211743	T	C	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.A1123G:p.N375D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	0.999	D	2.54	M	1.62	T	-0.676	T	0.207	T	0.407	2.838	15.45	5.73	2.198	7.234	13.546	0.391	0.0273884487632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322244133	1.573e-05	1.573e-05	1.225e-05	1.925e-05	0.0001	1.048e-05	8.75e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	1.349e-05	4.967e-05	0	6.578e-06	6.568e-06	0	1.347e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.016	0.60972	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999499	0.47278	D	3.165	0.88605	M	1.62	0.28189	T	-4.75	0.80256	D	0.76	0.75834	-0.6757	0.61570	T	0.207	0.56581	T	10	0.825362	0.81718	D	0.027388	0.50205	D	0.391	0.70684	0.642	0.77903	0.486779940545	0.48312	0.7329388244103043	0.73238	0.445424986168	0.44433	0.57258272171	0.49043	T	0.198404	0.55538	T	-0.0567883	0.43408	T	-0.303863	0.44316	T	0.957681715488434	0.65074	D	0.691131	0.30052	T	0.72573465	0.79482	0.5543208	0.74225	0.72573465	0.79484	0.5543208	0.74225	-3.422	0.15354	T	.	.	0.244	0.47837	B	.	.	4.048566	0.59987	24.2	0.99662587555299686	0.78011	0.98170	0.80208	D	AEFDGBCI	0.947244	0.95759	D	0.706032391817661	0.80028	7.204363	0.63348678382006	0.77386	6.66935	0.99999999999125	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	7.207000	0.77409	7.872000	0.72015	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.241000	0.23027	0.0:0.0:0.0:1.0	13.546	0.61163	559	0.71409	.	.	.	.	.	.	Uncertain significance	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	1983.98	38	chr11	59211743	.	T	C	1983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.820e-01;DP=952;ExcessHet=0.0000;FS=1.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.322;SOR=0.796	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1998,0,2208	20	0	1	0
chr11	59212176	59212176	C	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.G690T:p.Q230H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.794	P	0.754	P	0.546	N	1.000	N	2.075	M	-1.86	D	-0.242	T	0.649	D	0.16	0.689	7.680	3.33	0.601	2.699	8.965	0.284	0.0386436514016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398308191	1.573e-05	1.573e-05	1.225e-05	1.925e-05	0.0001	1.048e-05	8.75e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	1.349e-05	4.967e-05	0	6.57e-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	0.044	0.41096	D	0.103	0.38305	T	0.794	0.44757	P	0.754	0.56161	P	0.545718	0.11489	N	0.794535	1	0.08975	N	2.665	0.77964	M	-1.86	0.84341	D	-1.96	0.45404	N	0.146	0.14763	-0.2423	0.76566	T	0.649	0.87758	D	10	0.16884449	0.31459	T	0.038644	0.58347	D	0.284	0.60219	0.35	0.34760	0.463068873536	0.45932	0.45622635702734377	0.45540	0.308157786748	0.33120	0.282615125179	0.07860	T	0.010503	0.09483	T	-0.0298647	0.47436	T	-0.265189	0.48304	T	0.301234566266385	0.25055	T	0.562144	0.19728	T	0.25917608	0.48970	0.14276937	0.33953	0.25917608	0.48970	0.14276937	0.33952	-4.726	0.33718	T	.	.	0.128	0.27313	B	.	.	2.283041	0.29193	18.04	0.98321594224170583	0.40251	0.41861	0.26751	N	AEFDGBCI	0.418536	0.48613	N	0.0152664167873277	0.42550	2.565823	-0.108208060478752	0.35059	2.023808	0.999999357366148	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.21	3.33	0.37245	2.753000	0.47203	1.428000	0.26422	0.596000	0.33519	0.297000	0.25297	0.195000	0.23527	0.011000	0.09372	0.0:0.8242:0.0:0.1758	8.965	0.35031	559	0.71409	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) 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	2226.98	38	chr11	59212176	.	C	A	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.639e+00;DP=934;ExcessHet=0.0000;FS=4.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=14.85;ReadPosRankSum=-1.475e+00;SOR=1.116	GT:AD:DP:GQ:PL	0/1:67,83:150:99:2241,0,1724	20	0	1	0
chr11	61259093	61259093	G	A	exonic	VWCE	.	nonsynonymous SNV	VWCE:NM_152718:exon20:c.C2450T:p.P817L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.019	B	0.002	B	0.150	N	1.000	N	1.7	L	3.27	T	-0.904	T	0.226	T	0.139	1.285	10.20	2.48	0.384	-0.741	6.773	0.014	.	.	0.00419329	0.0038	0.0002	8.663e-05	0	0	6.02e-05	0.0090	0.0269	0.0032276	499	154602	rs199774187	0.0017	0.0017	0.0009	0.0025	0.0261	0.0016	0.0016	0.0252	0.0248	0.0002	8.944e-05	0	0	1.872e-05	0.0010	5.216e-05	0.0020	0.0261	0.0008	0.0008	0.0004	0.0012	0.0233	0.0007	0.0006	0.0198	0.0185	0.0002	0	0	0	0	0	0.0034	1.47e-05	0	0.0233	0.062	0.36912	T	0.108	0.39645	T	0.019	0.17989	B	0.002	0.06944	B	0.150235	0.17992	N	0.409242	1	0.08975	N	1.055	0.26876	L	-0.57	0.71307	T	-1.59	0.46337	N	0.06	0.05037	-0.9041	0.47550	T	0.226	0.59083	T	10	0.0034775436	0.00062	T	.	.	.	0.014	0.01968	.	.	0.0611884634855	0.05136	0.2673556967037624	0.26648	0.207961850794	0.23260	0.268343091011	0.05925	T	0.014221	0.19032	T	-0.527152	0.00399	T	-0.509722	0.21343	T	0.0132216412871336	0.00235	T	0.463654	0.15494	T	0.03173548	0.03068	0.039300587	0.03991	0.023720885	0.01136	0.03907875	0.03920	-4.521	0.31162	T	.	.	0.084	0.09723	B	.;.;.	.;.;.	0.110370	0.05098	1.633	0.58570857526824205	0.06023	0.02995	0.07855	N	AEFDBI	0.053315	0.09597	N	-1.00735335399968	0.08451	0.396264	-1.05196771491435	0.08666	0.4272234	0.240926205521004	0.18570	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.42	2.48	0.29194	-0.868000	0.04345	-0.886000	0.07046	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1019:0.1956:0.7025:0.0	6.773	0.22789	549	0.72275	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1916.11	33	chr11	61259093	.	G	A	1916.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.78;DP=858;ExcessHet=0.1072;FS=1.958;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-9.800e-02;SOR=0.752	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1307,0,1407	19	0	2	0
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|1:77,36:113:99:0|1:61740527_G_C:419,0,1380:61740527	0	0	21	0
chr11	62519982	62519982	G	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C14435T:p.S4812L	.	.	435	1086	1	0	0	1	0.000460193	.	.	2210979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.96	D	0.036	N	1.000	D	2.94	M	4.63	T	-1.056	T	0.031	T	0.364	1.892	12.28	4.97	2.310	0.923	17.863	0.156	0.0223627090462	0.0004	.	0.0004	0.0002	0.0002	0.0001	0.0002	0.0006	0	0.0001	0.0002975	46	154602	rs201426270	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0001	0.0002	0.0002	0	0.0001	0	0.0003	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	0.0001	0	0	9.526e-05	0	0.0004	0	0	0.054	0.38633	T	0.004	0.74150	D	0.998	0.73220	D	0.96	0.70309	D	0.036230	0.24547	N	0.292144	0.536478	0.81001	D	2.215	0.62545	M	4.63	0.01817	T	-3.82	0.71997	D	0.269	0.30461	-1.0558	0.12829	T	0.031	0.13461	T	10	0.30764043	0.48266	T	0.022363	0.45241	T	0.156	0.40720	.	.	0.297375071883	0.29337	0.24478352525978161	0.24392	0.200253667059	0.22427	0.393080621958	0.24103	T	0.577605	0.86117	D	-0.379714	0.03129	T	-0.433778	0.29507	T	0.233849555253983	0.22133	T	0.945505	0.79230	D	0.22037883	0.44592	0.19978598	0.43878	0.22037883	0.44592	0.19978598	0.43877	-11.457	0.82105	D	.	.	0.154	0.34183	B	.	.	2.373245	0.30458	18.44	0.99611163474107489	0.74813	0.96283	0.68385	D	AEFGBI	.	.	.	0.452891197038249	0.64366	4.689642	0.307882353683334	0.56002	3.763109	0.986406402006559	0.31058	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.97	4.97	0.65419	4.685000	0.61381	.	.	0.606000	0.46413	0.871000	0.30813	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.863	0.88701	219	0.91485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3851.98	46	chr11	62519982	.	G	A	3851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1244;ExcessHet=0.0000;FS=11.164;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.715;SOR=1.157	GT:AD:DP:GQ:PL	0/1:179,152:331:99:3866,0,4387	20	0	1	0
chr11	62609085	62609085	C	T	exonic	EML3	.	nonsynonymous SNV	EML3:NM_001300793:exon7:c.G809A:p.R270H	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.953	D	0.000	D	0.987	D	0.55	N	1.53	T	-1.006	T	0.093	T	0.579	4.098	21.1	4.88	1.437	4.331	8.257	0.287	0.0161943283329	0.0019	0.000599042	0.0023	9.638e-05	0.0007	0	0.0030	0.0035	0	0.0012	0.0022639	350	154602	rs35971607	0.0019	0.0019	0.0019	0.0019	0.0021	0.0019	0.0018	0.0020	0.0020	0.0002	0.0009	0	0	0.0049	0.0016	0.0021	0.0014	0.0011	0.0014	0.0014	0.0014	0.0015	0.0021	0.0013	0.0012	0.0018	0.0017	0.0003	0	0.0007	0	0	0.0048	0	0.0021	0	0.0010	0.002	0.78490	D	0.004	0.76473	D	1.0	0.90584	D	0.953	0.69275	D	0.000011	0.62929	D	0.116735	0.987283	0.40565	D	0.205	0.09354	N	1.53	0.30401	T	-0.5	0.16393	N	0.238	0.30914	-1.0057	0.28247	T	0.093	0.35417	T	10	0.009855926	0.00221	T	0.016194	0.37323	T	0.287	0.60574	.	.	0.29132392195	0.28731	0.22879251741478132	0.22794	1.89300675512	0.92739	0.598446965218	0.52684	T	0.015255	0.12830	T	-0.38347	0.02962	T	-0.327908	0.41701	T	0.0423071082684086	0.04110	T	0.983602	0.94423	D	0.15344724	0.34782	0.1074887	0.25877	0.15344724	0.34781	0.1074887	0.25876	-7.648	0.60483	D	.	.	0.096	0.15385	B	.;.;.;.;.	.;.;.;.;.	5.258508	0.88295	29.5	0.99953918312932388	0.99963	0.87573	0.47157	D	AEFDBI	0.531005	0.55147	D	0.419593316604151	0.62499	4.466912	0.469577376650903	0.65983	4.893333	0.998050888524309	0.36367	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	4.88	0.63131	3.865000	0.55744	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7593:0.1591:0.0816	8.257	0.30921	185	0.92771	HELP;HELP;HELP;HELP;.	.	.	.	.	.	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	2064.98	34	chr11	62609085	.	C	T	2064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.191;DP=913;ExcessHet=0.0000;FS=2.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.87;SOR=0.527	GT:AD:DP:GQ:PL	0/1:96,89:185:99:2079,0,2214	20	0	1	0
chr11	62885478	62885478	G	T	exonic	SLC3A2	.	nonsynonymous SNV	SLC3A2:NM_001013251:exon7:c.G1013T:p.R338M	.	.	423	1059	37	3	0	43	0.0198982	.	.	738088	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.889	P	0.608	P	0.053	N	1.000	N	1.975	M	-5.27	D	0.805	D	0.942	D	0.565	3.445	17.66	3.77	2.181	2.967	10.08	0.258	.	0.0015	0.00359425	0.0030	0.0003	0.0025	0	0.0026	0.0028	0.0044	0.0076	0.0027167	420	154602	rs116829615	0.0020	0.0020	0.0018	0.0023	0.0267	0.0020	0.0019	0.0233	0.0219	0.0008	0.0025	0.0021	0	0.0039	0.0267	0.0015	0.0026	0.0069	0.0019	0.0019	0.0018	0.0020	0.0054	0.0017	0.0016	0.0038	0.0032	0.0004	0	0.0027	0.0014	0	0.0040	0.0102	0.0022	0.0028	0.0054	0.077	0.42199	T	0.06	0.50809	T	0.849	0.46879	P	0.608	0.51027	P	0.052793	0.22864	N	0.470559	0.999875	0.50225	D	1.995	0.54099	M	-5.91	0.99439	D	-1.56	0.37759	N	0.332	0.38438	0.805	0.94471	D	0.942	0.98081	D	10	0.008940965	0.00202	T	.	.	.	0.692	0.88820	.	.	0.810755673742	0.80898	0.8141359971728617	0.81369	0.733038358698	0.62820	0.341537356377	0.16668	T	0.60061	0.87194	D	-0.129223	0.31621	T	0.045329	0.73276	D	0.0083581585620973	0.00101	T	0.727127	0.34152	T	0.24260016	0.47190	0.089474104	0.20926	0.24260016	0.47189	0.089474104	0.20925	-8.442	0.67387	D	.	.	0.194	0.41526	B	.;.;.;.;.	.;.;.;.;.	4.096027	0.61034	24.3	0.90343711667841153	0.19608	0.76472	0.37508	D	AEFDGBHCI	0.599319	0.59238	D	0.0127040470589235	0.42432	2.556541	-0.0203591481341204	0.38798	2.290901	0.999999999598289	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	4.75	3.77	0.42499	2.765000	0.47304	.	.	0.597000	0.34315	0.630000	0.27999	1.000000	0.68203	0.938000	0.47775	0.0:0.2044:0.7956:0.0	10.08	0.41556	804	0.43891	Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain;.;Glycosyl hydrolase, family 13, catalytic 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	2051.98	39	chr11	62885478	.	G	T	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=902;ExcessHet=0.0000;FS=7.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.462;SOR=0.929	GT:AD:DP:GQ:PL	0/1:94,84:178:99:2066,0,2438	20	0	1	0
chr11	64755280	64755280	T	C	exonic	PYGM	.	nonsynonymous SNV	PYGM:NM_001164716:exon5:c.A584G:p.N195S	McArdle disease, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	177268	PYGM-related_disorder|not_provided|Glycogen_storage_disease,_type_V	.|MedGen:C3661900|MONDO:MONDO:0009293,MedGen:C0017924,OMIM:232600,Orphanet:368	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.857	P	0.000	D	1.000	D	2.43	M	-3.25	D	0.887	D	0.862	D	0.252	4.506	24.2	5.63	2.153	8.040	13.793	0.738	0.151652242425	0.0011	0.000798722	0.0017	0.0004	0.0002	0.0007	0.0006	0.0025	0.0022	0.0014	0.0015912	246	154602	rs114468011	0.0012	0.0012	0.0012	0.0013	0.0013	0.0012	0.0011	0.0013	0.0012	5.975e-05	0.0003	0.0026	0.0003	0.0007	0.0009	0.0013	0.0012	0.0012	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0003	0	6.537e-05	0.0026	0.0004	0.0011	0	0.0012	0	0.0004	0.042	0.41637	D	0.039	0.51112	D	0.958	0.54977	D	0.742	0.55764	P	0.000003	0.62929	D	0.000000	1	0.81001	D	2.77	0.80896	M	-3.25	0.93587	D	-4.44	0.79743	D	0.816	0.83781	0.887	0.95496	D	0.862	0.95397	D	10	0.1810683	0.33321	T	0.151652	0.83317	D	0.738	0.90895	.	.	0.968106915538	0.96776	0.6664053383360012	0.66578	0.328560466209	0.34964	0.701920390129	0.67422	T	0.672794	0.90307	D	-0.183306	0.23245	T	-0.0419403	0.67570	D	0.0536412005091572	0.06129	T	0.988901	0.96238	D	0.71194464	0.78714	0.55584604	0.74310	0.7266655	0.79537	0.46833518	0.69160	-11.538	0.84626	D	0.2500335282928002	0.33844	0.216	0.44579	B	.;.	.;.	4.387589	0.67691	25.1	0.99851467039427733	0.93102	0.98281	0.81223	D	AEFDGBI	0.927676	0.91072	D	0.72632167137808	0.81359	7.503453	0.70695911163212	0.82910	7.884877	0.999999999999863	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	8.017000	0.88732	7.802000	0.69178	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:0.0:1.0	13.793	0.62642	385	0.83500	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1171.98	35	chr11	64755280	.	T	C	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.180e+00;DP=764;ExcessHet=0.0000;FS=7.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=-2.062e+00;SOR=0.204	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1186,0,1016	20	0	1	0
chr11	64906531	64906531	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon21:c.G2962A:p.A988T	.	.	408	1113	0	1	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.002	B	0.132	N	1.000	N	0.41	N	3.27	T	-1.017	T	0.053	T	0.243	-0.148	3.275	2.53	0.364	0.571	7.548	0.008	0.0047125108673	.	.	9.262e-05	9.99e-05	0	0	0	0.0001	0	6.121e-05	8.41e-05	13	154602	rs202106316	8.08e-05	8.072e-05	6.812e-05	9.36e-05	0.0023	6.874e-05	6.427e-05	0.0013	0.0011	0	2.237e-05	0	0	0	0.0023	8.275e-05	0.0001	3.479e-05	8.546e-05	8.537e-05	8.993e-05	8.077e-05	0.0002	4.959e-05	3.964e-05	0.0001	7.898e-05	0	0	6.542e-05	0	0	0	0	0.0002	0	0	0.325	0.13349	T	0.359	0.17014	T	0.001	0.07471	B	0.002	0.06944	B	0.131518	0.18620	N	0.551157	1	0.08975	N	0.51	0.13489	N	3.27	0.06602	T	-0.02	0.07299	N	0.109	0.09490	-1.0173	0.24592	T	0.053	0.22578	T	10	0.04602644	0.03743	T	0.004713	0.11722	T	0.013	0.01715	0.357	0.35897	0.0934897674506	0.08844	0.3516684833874365	0.35080	0.142565980595	0.16080	0.296943932772	0.09946	T	0.022265	0.17198	T	-0.441072	0.01275	T	-0.6163	0.11478	T	0.0175913069397211	0.00492	T	0.717028	0.32946	T	0.017614223	0.00288	0.032207523	0.01920	0.017614223	0.00287	0.032207523	0.01920	-5.121	0.38128	T	.	.	0.069	0.03197	B	.	.	1.199633	0.15918	12.19	0.73775341902354374	0.10451	0.11620	0.16753	N	AEFDGBI	0.086846	0.17609	N	-0.23008961753315	0.31905	1.793748	-0.316482945734272	0.27565	1.530512	0.302161991262056	0.19200	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.39	2.53	0.29594	0.518000	0.22554	0.568000	0.19578	-0.175000	0.10903	0.000000	0.06391	0.093000	0.22564	0.449000	0.27873	0.0:0.665:0.0:0.335	7.548	0.26946	286	0.88678	.	.	.	.	.	.	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	1379.98	35	chr11	64906531	.	C	T	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.440e-01;DP=884;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.755;SOR=0.801	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1394,0,1893	20	0	1	0
chr11	65618419	65618419	-	TCA	exonic	PCNX3	.	nonframeshift insertion	PCNX3:NM_032223:exon6:c.1057_1058insTCA:p.V353_P354insI,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2090.94	67	chr11	65618419	.	G	GTCA	2090.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.397;DP=1081;ExcessHet=0.0000;FS=7.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.03;ReadPosRankSum=1.43;SOR=0.789	GT:AD:DP:GQ:PL	0/1:61,55:116:99:2105,0,2346	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	0/1:23,44,0,0:67:99:1710,0,819,1780,951,2731,1780,951,2731,2731	5	4	8	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,51:139:99:.:.:210,0,1679	8	0	12	1
chr11	67421025	67421025	G	C	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon8:c.G1063C:p.G355R	.	.	319	1197	6	0	0	6	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.595	P	0.236	B	.	.	1.000	D	0.895	L	1.59	T	-0.787	T	0.164	T	0.771	3.641	18.52	4.15	1.880	1.786	11.185	0.160	.	.	0.000399361	0.0008	0.0192	0	0	.	0	0	0.0005	0.0002135	33	154602	rs545975688	0.0029	0.0025	0.0029	0.0028	0.0033	0.0028	0.0028	0.0032	0.0032	0.0009	0.0021	0.0001	3.765e-05	0.0002	0.0028	0.0033	0.0030	7.248e-05	0.0017	0.0017	0.0017	0.0017	0.0029	0.0015	0.0015	0.0026	0.0024	0.0006	0	0.0020	0	0	0	0.0137	0.0029	0.0010	0	0.016	0.52492	D	0.204	0.27235	T	0.296	0.32457	B	0.038	0.23361	B	.	.	.	.	0.978517	0.39469	D	0.805	0.20218	L	1.59	0.30669	T	-1.81	0.42575	N	0.399	0.48411	-0.7868	0.55915	T	0.164	0.50078	T	9	0.007397473	0.00168	T	.	.	.	0.217	0.51112	.	.	0.328486982098	0.32448	0.36227796375865845	0.36141	0.135411833897	0.15262	0.908733010292	0.97349	D	0.008055	0.07418	T	-0.319875	0.06908	T	-0.235619	0.51225	T	0.0508017309378278	0.05640	T	0.80392	0.45144	T	0.12083106	0.28426	0.2380931	0.49123	0.12083106	0.28426	0.2380931	0.49122	-5.184	0.41426	T	.	.	0.352	0.58023	A	.;.;.	.;.;.	3.551534	0.49927	22.9	0.99678679803577142	0.79108	0.59217	0.30854	D	ALL	0.304504	0.41218	N	0.0918070133571178	0.46080	2.85409	0.111266341791659	0.45123	2.781196	0.999999999999747	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.15	4.15	0.47978	1.407000	0.34266	8.060000	0.76395	-0.273000	0.06669	0.888000	0.31154	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.8152:0.1848	11.185	0.47878	654	0.62520	.;.;.	.	.	.	.	.	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	387.98	36	chr11	67421025	.	G	C	387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-01;DP=738;ExcessHet=0.0000;FS=6.176;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=-4.600e-02;SOR=0.624	GT:AD:DP:GQ:PL	0/1:27,18:45:99:402,0,698	20	0	1	0
chr11	74103360	74103360	G	C	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon14:c.C2351G:p.T784R	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.095	B	0.047	B	0.608	N	1.000	N	0	N	2.94	T	-0.945	T	0.013	T	0.171	0.568	7.069	0.546	0.114	0.214	1.966	0.011	0.00705349762013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.32296	T	0.513	0.10714	T	0.095	0.25437	B	0.047	0.24832	B	0.608323	0.05686	N	1.215780	1	0.08975	N	-0.345	0.03330	N	2.93	0.09822	T	-0.66	0.20576	N	0.14	0.13911	-0.9451	0.41797	T	0.013	0.05081	T	10	0.036692053	0.01981	T	0.007053	0.18676	T	0.011	0.01250	0.221	0.14371	0.0482279557977	0.04254	0.32646794476371976	0.32559	0.111390099725	0.12571	0.219556346536	0.01284	T	0.016821	0.13832	T	-0.299961	0.08663	T	-0.66865	0.07696	T	0.0519662962114301	0.05841	T	0.660234	0.26930	T	0.04692373	0.07935	0.051157076	0.08175	0.04692373	0.07934	0.051157076	0.08174	-4.093	0.25775	T	0.12914629773743164	0.13457	0.086	0.10497	B	.;.	.;.	0.108156	0.05080	1.619	0.44234182325852794	0.03386	0.12448	0.17275	N	AEFBI	0.088463	0.17935	N	-1.1915238590255	0.05128	0.233018	-1.15402738096661	0.06695	0.3231715	0.00178307417656916	0.08881	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.82	0.546	0.16386	0.268000	0.18336	0.388000	0.17857	-0.063000	0.16611	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.54:0.1233:0.217:0.1197	1.966	0.03189	461	0.78683	.;.	.	.	.	.	.	Uncertain significance	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	3173.98	36	chr11	74103360	.	G	C	3173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=940;ExcessHet=0.0000;FS=2.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-1.215e+00;SOR=0.772	GT:AD:DP:GQ:PL	0/1:118,124:242:99:3188,0,2945	20	0	1	0
chr11	75587675	75587675	A	G	exonic	MAP6	.	nonsynonymous SNV	MAP6:NM_033063:exon4:c.T1826C:p.I609T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.0	B	.	.	1.000	N	-0.345	N	0.96	T	-1.004	T	0.037	T	0.036	0.030	4.170	-1.19	-0.293	-1.422	4.878	0.004	0.00645487581026	.	0.000199681	7.416e-05	0	0	0	0	7.492e-05	0	0.0002	8.41e-05	13	154602	rs577814146	8.211e-05	8.21e-05	7.353e-05	9.079e-05	0.0007	7.004e-05	6.554e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	7.825e-05	0.0001	0.0002	5.261e-05	5.251e-05	5.145e-05	5.381e-05	0.0006	2.559e-05	1.831e-05	0.0002	9.051e-05	0	0	0	0	0	0	0	7.356e-05	0	0.0006	0.659	0.14595	T	0.348	0.35330	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.96	0.42888	T	-0.51	0.15986	N	0.014	0.00160	-1.0042	0.28696	T	0.037	0.15770	T	9	0.01775664	0.00381	T	0.006455	0.16985	T	0.004	0.00165	.	.	0.0666544352282	0.05500	0.010954128050735135	0.01056	0.224661245838	0.24998	0.24787349999	0.03547	T	0.051562	0.28916	T	-0.562933	0.00244	T	-0.786712	0.02256	T	0.017731411383078	0.00503	T	0.405359	0.10397	T	0.027416853	0.01931	0.046998225	0.06672	0.027416853	0.01930	0.046998225	0.06672	-5.288	0.41596	T	.	.	0.106	0.20391	B	.;.	.;.	-0.071849	0.03811	0.810	0.63083788242599037	0.07130	0.02516	0.07015	N	AEFDGBI	0.069889	0.13851	N	-1.53333075871521	0.01634	0.07146844	-1.52762587423608	0.02134	0.0976787	0.627760763150472	0.21941	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.633917	0.49826	0	.	.	4.18	-1.19	0.09091	-0.685000	0.05269	-3.183000	0.02990	0.644000	0.52426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5764:0.1515:0.2721:0.0	4.878	0.13026	615	0.66512	.;.	.	.	.	.	.	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	2678.98	34	chr11	75587675	.	A	G	2678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=1066;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-1.296e+00;SOR=0.723	GT:AD:DP:GQ:PL	0/1:84,96:180:99:2693,0,2345	20	0	1	0
chr11	78200699	78200699	C	T	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon6:c.C1088T:p.S363L,	.	.	436	1053	32	1	0	34	0.0158879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.422	B	0.041	B	0.000	D	1.000	D	0.55	N	3.37	T	-0.936	T	0.112	T	0.804	2.344	13.79	4.73	2.461	5.484	17.913	0.118	.	0.0042	0.00379393	0.0056	0.0013	0.0011	0	0.0032	0.0059	0.0067	0.0144	0.0054074	836	154602	rs147270370	0.0054	0.0055	0.0051	0.0058	0.0155	0.0053	0.0053	0.0148	0.0145	0.0009	0.0026	0.0087	7.557e-05	0.0031	0.0071	0.0051	0.0066	0.0155	0.0044	0.0044	0.0047	0.0041	0.0124	0.0042	0.0041	0.0099	0.0090	0.0009	0.0263	0.0034	0.0092	0	0.0023	0.0170	0.0064	0.0052	0.0124	0.292	0.28395	T	0.14	0.33554	T	0.422	0.35435	B	0.041	0.23986	B	0.000071	0.52346	D	0.000000	0.992527	0.81001	D	0.205	0.09354	N	-0.24	0.68030	T	-1.35	0.37375	N	0.767	0.76481	-0.9361	0.43226	T	0.112	0.40052	T	10	0.0058319867	0.00130	T	.	.	.	0.118	0.32913	.	.	0.435808882951	0.43200	0.5387993112169235	0.53804	0.0731156517845	0.08196	0.591109752655	0.51651	T	0.021335	0.16634	T	-0.198357	0.21042	T	-0.0453791	0.67336	D	0.0174324986417092	0.00480	T	0.90111	0.65969	D	0.25085986	0.48090	0.14574388	0.34554	0.25085986	0.48090	0.14574388	0.34553	-6.214	0.48036	T	.	.	0.214	0.59016	B	.;.;.	.;.;.	3.423610	0.47552	22.5	0.98669950564986297	0.44456	0.97537	0.75396	D	AEFDGBI	0.403434	0.47712	N	-0.00792238119281392	0.41496	2.483102	0.159738799392151	0.47660	2.99292	0.999999721442655	0.74766	0.646311	0.45356	0	0.593476	0.48661	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	3.791000	0.55173	7.353000	0.58305	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.913	0.88860	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1741.11	35	chr11	78200699	.	C	T	1741.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=835;ExcessHet=0.1072;FS=2.002;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-5.410e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/1:61,34:95:99:813,0,1486	19	0	2	0
chr11	83248140	83248140	G	A	exonic	ANKRD42	.	stopgain	ANKRD42:NM_001300975:exon11:c.G1520A:p.W507X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	D	.	.	.	.	.	.	.	.	.	2.924	15.74	-1.55	-0.421	0.062	8.771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.192e-07	6.841e-07	0	1.458e-06	1.263e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.263e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544012	0.32078	D	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.458584	0.01003	T	-0.896501	0.00527	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.592217	0.72647	25.9	0.52339997504814362	0.04729	0.00196	0.01131	N	AEFI	0.013152	0.00165	N	-0.985733002631149	0.08908	0.4194918	-1.15056199937401	0.06758	0.3263796	1.25975208303968E-4	0.05386	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.52	-1.55	0.08105	0.104000	0.15148	0.809000	0.21733	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.6898:0.0:0.3102:0.0	8.771	0.33892	561	0.71236	.	.	.	.	.	.	Uncertain significance	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	617.98	34	chr11	83248140	.	G	A	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.468e+00;DP=743;ExcessHet=0.0000;FS=3.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=0.156;SOR=0.321	GT:AD:DP:GQ:PL	0/1:38,28:66:99:632,0,1041	20	0	1	0
chr11	85111728	85111728	T	G	exonic	DLG2	.	nonsynonymous SNV	DLG2:NM_001142699:exon6:c.A290C:p.Q97P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	B	0.043	B	0.158	U	1.000	D	0	N	2.67	T	-1.062	T	0.064	T	0.281	2.178	13.24	5.01	1.889	4.871	13.285	0.039	0.0116583616035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.53900	T	0.231	0.25061	T	0.261	0.31520	B	0.043	0.24256	B	0.158371	0.17742	U	0.380726	0.74263	0.29719	N	.	.	.	2.67	0.52642	T	-0.14	0.21429	N	0.46	0.49692	-1.0620	0.11263	T	0.064	0.26385	T	9	0.17109984	0.31810	T	0.011658	0.29506	T	0.039	0.10176	0.17	0.07536	0.34936206512	0.34543	0.156102056916071	0.15531	0.143206350584	0.16158	0.414813309908	0.27123	T	.	.	.	-0.114678	0.33998	T	-0.402504	0.33093	T	0.904957056045532	0.55856	D	0.474753	0.14169	T	.	.	.	.	.	.	.	.	-3.48	0.16153	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	4.001642	0.58965	24.0	0.98972900263950436	0.49560	0.93013	0.57106	D	AEFBI	0.827131	0.74648	D	-0.125858755390883	0.36269	2.094154	0.0718893767597309	0.43141	2.622093	0.999740774026306	0.42466	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	4.903000	0.62964	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.285	0.59671	507	0.75469	.;.;.	.	.	.	.	.	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	336.98	35	chr11	85111728	.	T	G	336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.360e-01;DP=547;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-2.640e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/1:10,16:26:99:351,0,199	20	0	1	0
chr11	85636171	85636171	G	T	exonic	TMEM126B	.	nonsynonymous SNV	TMEM126B:NM_001256547:exon4:c.G497T:p.G166V	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	YES	433	1088	1	0	0	1	0.000459348	.	.	237764	Mitochondrial_complex_I_deficiency|not_provided|Mitochondrial_complex_1_deficiency,_nuclear_type_29|Mitochondrial_disease	MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609|MedGen:C3661900|MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.999	D	0.995	D	0.000	D	0.999	D	2.455	M	1.18	T	-0.654	T	0.205	T	0.908	3.126	16.45	4.1	2.793	2.341	10.979	0.309	0.0454394286743	0.0012	.	0.0013	0.0003	0.0003	0	0.0012	0.0021	0.0023	0.0001	0.0013195	204	154602	rs141542003	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0018	0.0017	0.0002	9.487e-05	0	0	0.0014	0.0002	0.0018	0.0009	4.73e-05	0.0010	0.0010	0.0011	0.0009	0.0018	0.0008	0.0008	0.0015	0.0014	0.0003	0	6.551e-05	0.0003	0	0.0010	0	0.0018	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000001	0.84330	D	0.129538	0.887367	0.46300	D	2.655	0.77738	M	1.18	0.37746	T	-6.17	0.90254	D	0.598	0.65587	-0.6540	0.62539	T	0.205	0.56293	T	9	0.17585585	0.32539	T	0.045439	0.61979	D	0.309	0.63055	.	.	0.333154297509	0.32921	0.6454818489090022	0.64483	0.290691010596	0.31478	0.378399193287	0.22029	T	0.04239	0.26168	T	-0.0886299	0.38302	T	0.106452	0.77337	D	0.0969241983163035	0.12014	T	0.763624	0.39028	T	0.5933246	0.72330	0.44750154	0.67827	0.6463832	0.75172	0.48253524	0.70038	-7.162	0.55208	T	0.5877603048417654	0.65455	0.665	0.74625	P	.;.	.;.	3.502374	0.49009	22.7	0.99381967749807854	0.61935	0.82175	0.41443	D	AEFBI	0.242474	0.36392	N	0.400734397124663	0.61464	4.347764	0.267421096847958	0.53645	3.532609	0.718534203549623	0.22903	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	4.1	0.47196	2.435000	0.44469	7.931000	0.75020	0.676000	0.76740	0.870000	0.30794	1.000000	0.68203	0.017000	0.10941	0.0:0.1884:0.8116:0.0	10.979	0.46700	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	38	chr11	85636171	.	G	T	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.960e-01;DP=771;ExcessHet=0.0000;FS=1.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.391e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1028,0,685	20	0	1	0
chr11	85726221	85726221	A	G	exonic	SYTL2	.	nonsynonymous SNV	SYTL2:NM_206927:exon8:c.T3137C:p.M1046T	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.489	N	1.000	N	0	N	1.83	T	-0.999	T	0.026	T	0.054	-1.940	0.007	-7.9	-1.461	-0.920	9.172	0.004	0.00236800204068	0.0007	0.00119808	0.0005	0	8.639e-05	0.0002	0	0.0008	0.0022	0.0002	0.0004916	76	154602	rs147296637	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0004	0.0046	5.04e-05	0	0.0062	0.0003	0.0009	0.0004	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	7.221e-05	0	0.0004	0.0060	0.0006	0	0	0.0005	0.0010	0.0006	.	.	.	0.292	0.56640	T	.	.	.	.	.	.	0.489307	0.05026	N	1.311420	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.048	0.01999	-0.9990	0.30199	T	0.026	0.11087	T	9	0.003896743	0.00074	T	0.002368	0.04618	T	0.004	0.00165	.	.	.	.	.	.	0.0126296370296	0.01203	0.240424022079	0.02829	T	.	.	.	.	.	.	.	.	.	.	.	.	0.342966	0.07460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.14155	B	.;.	.;.	-1.605422	0.00238	0.004	0.50318157762843629	0.04363	0.00590	0.02647	N	AEFDGBHCI	0.051251	0.09038	N	-1.67792039667089	0.00923	0.03997063	-1.73871242039004	0.00976	0.04374515	1.0	0.98316	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.648885	0.59868	0	.	.	5.39	-7.9	0.01035	-0.870000	0.04336	-0.163000	0.11303	-0.865000	0.02600	0.000000	0.06391	0.000000	0.08366	0.212000	0.22240	0.5679:0.1862:0.2459:0.0	9.172	0.36252	403	0.82567	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2654.98	38	chr11	85726221	.	A	G	2654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-02;DP=2317;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.33;SOR=0.660	GT:AD:DP:GQ:PL	0/1:110,104:214:99:2669,0,2915	20	0	1	0
chr11	89804286	89804286	T	C	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon3:c.A184G:p.I62V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	B	0.007	B	.	.	1.000	N	0	N	-1.78	D	-0.916	T	0.231	T	0.063	-0.390	2.169	0.821	0.629	1.686	3.939	0.111	0.00892876388708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760032090	1.369e-06	1.368e-06	2.725e-06	0	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.148	0.32675	T	0.008	0.14655	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.78	0.83737	D	0.26	0.04380	N	0.122	0.12341	-0.9156	0.46142	T	0.231	0.59719	T	8	0.06294978	0.08127	T	0.008929	0.23535	T	0.111	0.31313	0.275	0.22687	0.043077524339	0.03247	0.01847093704425622	0.01801	1.60464414724	0.88762	0.31007373333	0.11918	T	6.78E-4	0.00299	T	-0.199286	0.20907	T	-0.524037	0.19887	T	0.0761723370811587	0.09491	T	0.458654	0.13238	T	0.025646038	0.01527	0.030726915	0.01564	0.025646038	0.01526	0.030726915	0.01564	-4.118	0.25555	T	.	.	0.098	0.16231	B	.;.	.;.	0.930248	0.13055	9.558	0.44436016249816679	0.03416	0.01907	0.05839	N	AEFI	0.040686	0.06085	N	-1.16110931591431	0.05599	0.2556854	-1.2260014101073	0.05495	0.261984	1.18564166296845E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.821	0.821	0.17938	-0.115000	0.10713	-12.433000	0.00525	0.471000	0.21939	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:0.0:1.0	3.939	0.08817	829	0.39537	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2396.98	38	chr11	89804286	.	T	C	2396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.097e+00;DP=939;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.82;MQRankSum=-2.118e+00;QD=11.52;ReadPosRankSum=-3.530e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/1:98,110:208:99:2411,0,2396	20	0	1	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-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	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	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	0.1	198.8	23	chr11	90086558	.	G	C	198.8	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-1.641e+00;DP=659;ExcessHet=0.3672;FS=166.209;InbreedingCoeff=-0.1804;MLEAC=4;MLEAF=0.133;MQ=34.21;MQRankSum=-6.890e-01;QD=1.73;ReadPosRankSum=1.05;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,6:39:70:0|1:90086558_G_C:70,0,1210:90086558	12	0	3	6
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-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	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	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	0.05556	58.32	32	chr11	90086559	.	T	C	58.32	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-6.940e-01;DP=679;ExcessHet=0.1190;FS=67.569;InbreedingCoeff=-0.0843;MLEAC=1;MLEAF=0.028;MQ=33.62;MQRankSum=-3.700e-01;QD=0.70;ReadPosRankSum=1.39;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,6:39:70:0|1:90086558_G_C:70,0,1210:90086558	16	0	2	3
chr11	94307512	94307512	C	A	exonic	IZUMO1R	.	nonsynonymous SNV	IZUMO1R:NM_001199206:exon5:c.C573A:p.S191R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.245	B	0.222	B	0.295	N	0.797	N	1.87	L	-1.12	T	-0.600	T	0.330	T	0.508	1.591	11.28	0.033	0.208	0.140	4.426	0.022	0.0503972571708	.	.	8.284e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs762264181	4.79e-06	4.788e-06	2.723e-06	6.878e-06	6.708e-05	1.99e-06	1.28e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.097	0.39190	T	0.245	0.31074	B	0.222	0.37884	B	0.295181	0.14697	N	0.713054	0.796681	0.29163	N	2.715	0.79425	M	-1.15	0.77964	T	-2.72	0.65283	D	0.4	0.44090	-0.6004	0.64801	T	0.330	0.69758	T	10	0.26244596	0.43713	T	0.050397	0.64223	D	0.321	0.64318	0.565	0.68633	0.233150807113	0.22925	0.8611858656415803	0.86082	0.0238746124903	0.02421	0.558987379074	0.47125	T	0.333223	0.70310	T	-0.136348	0.30474	T	-0.23666	0.51124	T	0.316603481769562	0.25684	T	0.678032	0.28700	T	0.16723579	0.37109	0.2057901	0.44764	0.16723579	0.37108	0.2057901	0.44763	-5.634	0.43102	T	.	.	0.405	0.59826	A	.;.	.;.	2.173104	0.27693	17.55	0.97934838279409009	0.36985	0.11509	0.16681	N	AEFDBI	0.077870	0.15698	N	-0.604281045431404	0.18814	0.9798512	-0.689376653617925	0.17225	0.9149867	0.00386996775982194	0.10312	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.33	0.033	0.13496	0.364000	0.20053	-0.697000	0.07812	0.549000	0.26987	0.261000	0.24959	0.000000	0.08366	0.040000	0.14268	0.1602:0.5488:0.0:0.291	4.426	0.10928	749	0.51929	Folate receptor-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	0.04762	5582.11	36	chr11	94307512	.	C	A	5582.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.631e+00;DP=1145;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-6.070e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/1:112,102:214:99:2610,0,3042	19	0	2	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S,	.	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	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	5153.68	46	chr11	94528131	.	G	A	5153.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.150e-01;DP=1256;ExcessHet=0.3300;FS=1.769;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.104;SOR=0.846	GT:AD:DP:GQ:PL	0/1:96,70:166:99:1617,0,2432	18	0	3	0
chr11	94544731	94544731	G	A	exonic	FUT4	.	nonsynonymous SNV	FUT4:NM_002033:exon1:c.G598A:p.G200R,	.	.	434	1073	13	2	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.002	B	0.006	B	0.228	U	1.000	N	0.79	N	1.91	T	-0.985	T	0.023	T	0.236	1.382	10.55	1.37	0.059	-0.098	4.988	0.018	.	0.0050	0.00219649	0.0126	0.0016	0.0078	0	0.0213	0.0193	0.0132	0.0032	0.0048253	746	154602	rs201519706	0.0094	0.0092	0.0096	0.0091	0.0105	0.0092	0.0092	0.0104	0.0103	0.0012	0.0047	0.0197	2.705e-05	0.0081	0.0055	0.0105	0.0075	0.0025	0.0067	0.0067	0.0072	0.0062	0.0099	0.0064	0.0062	0.0093	0.0090	0.0019	0.0033	0.0058	0.0239	0	0.0061	0.0102	0.0099	0.0076	0.0017	0.346	0.12469	T	0.577	0.08594	T	0.002	0.09854	B	0.006	0.12133	B	0.228016	0.15985	U	0.578909	1	0.08975	N	1.61	0.41143	L	1.91	0.23283	T	-1.3	0.32590	N	0.081	0.05670	-0.9846	0.33927	T	0.023	0.09832	T	10	0.0037264526	0.00069	T	.	.	.	0.018	0.03083	0.469	0.54214	0.173771789658	0.16945	0.545966886776455	0.54522	1.07679982734	0.77000	0.794945120811	0.81194	T	0.037335	0.24438	T	-0.57537	0.00206	T	-0.589861	0.13677	T	0.00287349530812968	0.00030	T	0.540346	0.18307	T	0.04525807	0.07378	0.051566597	0.08325	0.04525807	0.07378	0.051566597	0.08325	-3.744	0.19970	T	.	.	0.109	0.20702	B	.	.	1.132314	0.15190	11.66	0.93142993099454197	0.22788	0.05029	0.10812	N	AEFDBHCI	0.101107	0.20315	N	-1.32369092715106	0.03406	0.1520741	-1.32616571478158	0.04095	0.1924414	0.999999902486384	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	4.28	1.37	0.21200	0.479000	0.21938	3.085000	0.36255	-0.424000	0.05221	0.000000	0.06391	0.999000	0.35428	0.071000	0.16709	0.3476:0.1899:0.4626:0.0	4.988	0.13544	818	0.41518	Fucosyltransferase, 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	0.02381	1197.99	48	chr11	94544731	.	G	A	1197.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.204;DP=777;ExcessHet=0.0000;FS=6.762;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.32;ReadPosRankSum=1.54;SOR=1.781	GT:AD:DP:GQ:PL	0/1:15,47:62:99:1212,0,289	20	0	1	0
chr11	94593554	94593554	A	G	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon9:c.A1063G:p.M355V,	.	.	436	1043	42	1	0	44	0.0206573	.	.	702038	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.087	N	1.000	D	0.23	N	2.62	T	-0.958	T	0.008	T	0.076	-1.574	0.014	-0.778	0.019	-0.376	8.814	0.117	.	0.0067	0.00459265	0.0047	0.0129	0.0055	0	0.0003	0.0037	0.0088	0.0074	0.004586	709	154602	rs34492831	0.0039	0.0039	0.0037	0.0041	0.0189	0.0038	0.0037	0.0160	0.0150	0.0120	0.0049	0.0040	2.519e-05	0.0003	0.0189	0.0033	0.0059	0.0089	0.0061	0.0061	0.0060	0.0061	0.0129	0.0058	0.0056	0.0120	0.0116	0.0129	0.0011	0.0048	0.0032	0	0	0.0068	0.0036	0.0118	0.0066	0.791	0.03192	T	0.474	0.12107	T	0.0	0.02946	B	0.001	0.04355	B	0.087059	0.20554	N	0.422160	0.999746	0.20516	N	0.25	0.09762	N	2.62	0.12988	T	-0.62	0.18248	N	0.072	0.04547	-0.9581	0.39534	T	0.008	0.02884	T	10	0.008027405	0.00182	T	.	.	.	0.117	0.32689	.	.	0.15556083564	0.15200	0.33646312682960244	0.33559	0.292844032975	0.31705	0.303213775158	0.10881	T	0.049508	0.28327	T	-0.733065	0.00023	T	-0.814097	0.01575	T	0.000791278126423152	0.00007	T	0.668933	0.27772	T	0.054207113	0.10369	0.08011389	0.18094	0.054207113	0.10369	0.08011389	0.18093	-4.999	0.36829	T	.	.	0.050	0.00136	B	.	.	0.207442	0.05916	2.354	0.53700198470870886	0.04991	0.01050	0.03913	N	AEFI	0.025181	0.01684	N	-1.02090349749187	0.08170	0.3821699	-0.986236603951907	0.10094	0.5062335	0.74418407930807	0.23259	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.77	-0.778	0.10423	-0.376000	0.07522	1.074000	0.23831	-0.582000	0.04700	0.000000	0.06391	0.254000	0.23938	0.559000	0.30388	0.7495:0.0:0.2505:0.0	8.814	0.34144	793	0.45818	PAZ domain|PAZ domain|PAZ 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	0.04762	4484.11	62	chr11	94593554	.	A	G	4484.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=1097;ExcessHet=0.1072;FS=2.639;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.31;ReadPosRankSum=0.876;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,61:130:99:0|1:94593544_G_A:2258,0,2714:94593544	19	0	2	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	1/1:1,114,0:115:99:.:.:4758,336,0,4760,343,4767	0	17	3	0
chr11	101948072	101948072	C	G	exonic	CEP126	.	nonsynonymous SNV	CEP126:NM_020802:exon4:c.C436G:p.Q146E,	.	.	430	1069	23	0	0	23	0.0106432	.	.	701522	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.946	D	0.000	D	1.000	D	2.32	M	2.68	T	-1.107	T	0.091	T	0.653	3.709	18.84	5.4	2.673	1.660	12.085	0.195	.	0.0008	0.00419329	0.0030	0.0005	0.0017	0.0003	0.0002	0.0019	0.0055	0.0122	0.002749	425	154602	rs142141239	0.0021	0.0021	0.0018	0.0024	0.0116	0.0020	0.0020	0.0110	0.0107	0.0002	0.0013	0.0012	7.585e-05	0.0005	0.0096	0.0015	0.0025	0.0116	0.0014	0.0014	0.0015	0.0013	0.0120	0.0013	0.0012	0.0095	0.0086	0.0004	0	0.0014	0.0020	0	0.0002	0.0034	0.0015	0.0019	0.0120	0.008	0.58626	D	0.0	0.92824	D	.	.	.	.	.	.	0.000007	0.62929	D	0.066085	0.929249	0.27100	N	.	.	.	2.68	0.12371	T	-2.31	0.51319	N	0.44	0.47857	-1.1075	0.03293	T	0.091	0.34710	T	10	0.007989496	0.00181	T	.	.	.	0.195	0.47612	.	.	0.508637063495	0.50502	0.19715428182912278	0.19632	0.55903840178	0.52464	0.398614287376	0.24875	T	.	.	.	-0.370491	0.03569	T	-0.294573	0.45296	T	0.0340959912636383	0.02653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14933	B	.	.	3.740163	0.53550	23.4	0.99368339192578992	0.61326	0.86869	0.46246	D	AEFI	0.167823	0.29453	N	0.675443646849055	0.78024	6.788801	0.646616358878334	0.78357	6.860392	0.0347394805635801	0.14168	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	1.303000	0.33075	4.829000	0.45183	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1716:0.8284:0.0:0.0	12.085	0.52989	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1237.98	33	chr11	101948072	.	C	G	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=801;ExcessHet=0.0000;FS=1.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-2.890e-01;SOR=0.958	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1252,0,873	20	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,37,0:151:99:0|1:106010659_C_T:339,0,3476,680,3582,4262:106010659	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,37,0:151:99:0|1:106010659_C_T:339,0,3476,680,3582,4262:106010659	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,37:151:99:0|1:106010659_C_T:339,0,3476:106010659	2	0	13	6
chr11	110137048	110137048	T	C	exonic	ZC3H12C	.	nonsynonymous SNV	ZC3H12C:NM_033390:exon2:c.T407C:p.I136T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.002	B	0.001	B	0.284	U	0.997	N	1.245	L	1.43	T	-1.006	T	0.069	T	0.399	1.272	10.15	3.23	0.369	3.497	8.933	0.093	0.00419241405635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.461	0.12632	T	0.002	0.09854	B	0.001	0.04355	B	0.283769	0.03850	U	3.175200	0.997282	0.22721	N	1.74	0.45129	L	1.41	0.33412	T	0.47	0.03090	N	0.402	0.44283	-1.0061	0.28126	T	0.069	0.28080	T	10	0.047878504	0.04164	T	0.004192	0.10089	T	0.093	0.26882	0.244	0.17830	0.043077524339	0.03247	0.07244813160525947	0.07181	0.0384345900939	0.04090	0.530330896378	0.43082	T	0.015885	0.13236	T	-0.142298	0.29524	T	-0.442178	0.28564	T	0.390426695346832	0.28580	T	0.822818	0.48291	T	0.030423949	0.02704	0.051704537	0.08375	0.030423949	0.02703	0.051704537	0.08375	-2.861	0.08828	T	.	.	0.277	0.55754	B	.;.;.	.;.;.	1.675780	0.21359	15.17	0.88270742644043154	0.17847	0.23786	0.22188	N	AEDBI	0.083939	0.17008	N	-0.559045481328567	0.20200	1.063191	-0.478331633687502	0.22751	1.237319	0.962003031054898	0.28592	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.63	3.23	0.36150	2.383000	0.44008	0.966000	0.23025	0.660000	0.55035	0.801000	0.29734	0.162000	0.23270	0.992000	0.67800	0.1255:0.0:0.1318:0.7427	8.933	0.34844	476	0.77720	.;.;.	.	.	.	.	.	Uncertain significance	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	188.09	38	chr11	110137048	.	T	C	188.09	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.239e+00;DP=1488;ExcessHet=0.0000;FS=235.132;InbreedingCoeff=-0.0304;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.96;ReadPosRankSum=1.70;SOR=8.379	GT:AD:DP:GQ:PL	0/1:155,40:195:99:202,0,3921	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:76,0,66:142:99:.:.:2425,2653,5758,0,3104,2898	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:76,0,66:142:99:.:.:2425,2653,5758,0,3104,2898	1	0	0	0
chr11	123614769	123614769	C	T	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon16:c.C1703T:p.P568L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.999	D	0.864	P	0.002	N	1.000	D	1.1	L	2.02	T	-1.114	T	0.084	T	0.798	2.736	15.11	4.72	2.168	6.944	17.675	0.186	0.0267694947164	0.0002	.	0.0001	0.0001	0.0002	0	0	0.0002	0.0011	0	9.7e-05	15	154602	rs370988688	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.981e-05	0.0001	0.0003	0.0001	0	0	0.0003	0.0003	0	0.0001	0.0001	0.0001	6.724e-05	0.0002	6.511e-05	5.322e-05	0.0001	9.896e-05	2.413e-05	0	6.54e-05	0	0	0	0	0.0002	0	0	0.01	0.58626	D	0.119	0.40909	T	0.001	0.77913	B	0.0	0.61462	B	0.001910	0.37691	N	0.265745	1	0.81001	D	.	.	.	2.02	0.21119	T	-2.04	0.49187	N	0.882	0.89465	-1.1141	0.02740	T	0.084	0.32757	T	10	0.20815	0.37135	T	0.026769	0.49648	D	0.186	0.46104	.	.	0.082315109003	0.07666	0.8823134280282912	0.88199	0.665990436291	0.59170	0.65524995327	0.60731	T	0.038767	0.30673	T	-0.124141	0.32447	T	-0.12261	0.61588	T	0.0899428664570545	0.11212	T	0.983802	0.94506	D	0.076348245	0.17260	0.07554645	0.16643	0.076348245	0.17260	0.07554645	0.16642	-4.059	0.41989	T	.	.	0.103	0.24157	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.180550	0.62926	24.5	0.99523852203224006	0.69407	0.99585	0.97709	D	AEFDBI	0.839637	0.75702	D	0.0316606480196227	0.43299	2.625608	0.14040405484232	0.46638	2.906403	0.999999980983204	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	4.72	4.72	0.59248	7.023000	0.76175	7.584000	0.61047	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.516000	0.29383	0.0:1.0:0.0:0.0	17.675	0.88134	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	0	0	0	0	0.02381	2446.98	33	chr11	123614769	.	C	T	2446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.130;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-8.000e-03;SOR=0.692	GT:AD:DP:GQ:PL	0/1:84,99:183:99:2461,0,1983	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	0/2:8,0,7:15:99:263,288,624,0,336,315	3	7	5	0
chr12	2679471	2679471	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.G5143A:p.V1715I	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	0	1509	13	0	0	13	0.00428901	.	.	188609	Long_QT_syndrome|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.994	D	0.000	N	1.000	D	1.85	L	-3.78	D	0.500	D	0.935	D	0.497	3.911	19.89	4.4	2.293	8.962	17.178	0.502	0.173233641019	8.1e-05	0.000199681	0.0007	0	0.0005	0	0	0.0008	0	0.0016	0.0002652	41	154602	rs147896322	0.0002	0.0002	0.0002	0.0002	0.0051	0.0002	0.0002	0.0037	0.0032	6.063e-05	0.0002	8.041e-05	7.682e-05	1.923e-05	0.0051	0.0002	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0005	0.0004	0.152	0.25255	T	0.564	0.13140	T	0.999	0.90584	D	0.987	0.82059	D	0.000000	0.00162	N	135.237000	0.999999	0.58761	D	2.32	0.66415	M	-3.92	0.96308	D	-0.59	0.17624	N	0.664	0.70615	0.500	0.90549	D	0.935	0.97846	D	10	0.15100849	0.28552	T	0.173234	0.84999	D	0.502	0.78475	.	.	0.846321943348	0.84484	0.4400439593453724	0.43921	0.425654640639	0.42967	0.617051482201	0.55312	T	0.004665	0.11001	T	0.00869578	0.52846	T	0.0806911	0.75624	D	0.0925779055125915	0.11520	T	.	.	.	.	.	.	.	.	.	.	.	-4.754	0.35825	T	.	.	0.126	0.35829	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.963306	0.82083	27.7	0.99848922393875916	0.92838	0.98787	0.86849	D	AEFDBI	0.926719	0.90827	D	0.505362786194092	0.67405	5.077439	0.512934559137171	0.68858	5.278617	0.999999999947849	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	9.301000	0.95253	11.722000	0.94835	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.178	0.86727	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1193.98	35	chr12	2679471	.	G	A	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.345;SOR=0.781	GT:AD:DP:GQ:PL	0/1:58,44:102:99:1208,0,1460	20	0	1	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	0/2:37,0,25,0,0:62:99:855,966,2383,0,1417,1341,966,2383,1417,2383,966,2383,1417,2383,2383	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	0/2:37,0,25,0,0:62:99:855,966,2383,0,1417,1341,966,2383,1417,2383,966,2383,1417,2383,2383	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	0/2:37,0,25,0,0:62:99:855,966,2383,0,1417,1341,966,2383,1417,2383,966,2383,1417,2383,2383	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	0/2:37,0,25,0,0:62:99:855,966,2383,0,1417,1341,966,2383,1417,2383,966,2383,1417,2383,2383	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,35,0,0,0:81:99:.:.:1582,1600,1678,1600,1678,1678,108,126,126,0,1600,1678,1678,126,1678,1600,1678,1678,126,1678,1678,1600,1678,1678,126,1678,1678,1678	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	3/3:0,0,0,35,0,0,0:81:99:.:.:1582,1600,1678,1600,1678,1678,108,126,126,0,1600,1678,1678,126,1678,1600,1678,1678,126,1678,1678,1600,1678,1678,126,1678,1678,1678	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	3/3:0,0,0,35,0,0,0:81:99:.:.:1582,1600,1678,1600,1678,1678,108,126,126,0,1600,1678,1678,126,1678,1600,1678,1678,126,1678,1678,1600,1678,1678,126,1678,1678,1678	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	3/3:0,0,0,35,0,0,0:81:99:.:.:1582,1600,1678,1600,1678,1678,108,126,126,0,1600,1678,1678,126,1678,1600,1678,1678,126,1678,1678,1600,1678,1678,126,1678,1678,1678	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	3/3:0,0,0,35,0,0,0:81:99:.:.:1582,1600,1678,1600,1678,1678,108,126,126,0,1600,1678,1678,126,1678,1600,1678,1678,126,1678,1678,1600,1678,1678,126,1678,1678,1678	1	0	2	0
chr12	7368119	7368119	C	T	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon17:c.G4181A:p.R1394Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	.	.	1.000	N	0	N	5.02	T	-0.905	T	0.003	T	0.268	-0.027	3.875	0.303	0.054	0.043	3.529	0.075	0.00117197555884	7.7e-05	.	8.272e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs374484836	1.781e-05	1.984e-05	1.5e-05	2.065e-05	2.521e-05	1.239e-05	1.053e-05	1.297e-05	1.108e-05	0	0	0	2.521e-05	0	0	1.982e-05	3.317e-05	1.16e-05	1.975e-05	1.971e-05	2.573e-05	1.348e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.468	0.08534	T	0.469	0.12281	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	5.02	0.01297	T	-0.74	0.22294	N	0.024	0.00445	-0.9053	0.47412	T	0.003	0.00864	T	9	0.040046692	0.02542	T	0.001172	0.01484	T	0.075	0.21907	.	.	0.15556083564	0.15200	0.2541593688217115	0.25329	0.249061306982	0.27473	0.269583106041	0.06087	T	0.002082	0.01490	T	-0.279802	0.10688	T	-0.639692	0.09691	T	0.0239551756651809	0.01139	T	0.444656	0.12411	T	0.027057752	0.01845	0.031802032	0.01821	0.027057752	0.01845	0.031802032	0.01820	-3.716	0.19555	T	.	.	0.079	0.18539	B	.;.	.;.	0.346842	0.07200	3.793	0.26630560833739053	0.01284	0.00018	0.00208	N	AEFBI	0.017826	0.00495	N	-1.3777979272133	0.02847	0.1263008	-1.42538847577552	0.03000	0.1391271	0.335358408605304	0.19528	0.626454	0.40138	0	0.588066	0.40923	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	1.52	0.303	0.15039	0.039000	0.13770	-0.477000	0.08942	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.0:0.2273:0.0:0.7727	3.529	0.07327	769	0.49307	.;.	.	.	.	.	.	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	625.98	36	chr12	7368119	.	C	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-1.352e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:21,23:44:99:640,0,494	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	0/2:63,12,70:145:99:2670,2502,4555,0,1824,2722	4	3	11	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,128,0:129:99:1|1:11353413_G_A:4821,355,0,4824,382,4851:11353413	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,57,0:57:99:1|1:11353413_G_A:2540,172,0,2540,172,2540:11353413	0	8	4	7
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD,	.	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	26110.08	283	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	26110.08	.	AC=8;AF=0.444;AN=18;BaseQRankSum=2.31;DP=5960;ExcessHet=0.0002;FS=4.944;InbreedingCoeff=0.1416;MLEAC=12;MLEAF=0.667;MQ=48.22;MQRankSum=-2.223e+00;QD=32.60;ReadPosRankSum=-2.244e+00;SOR=0.850	GT:AD:DP:GQ:PL	0/1:144,98:242:14:3405,0,14	4	3	2	12
chr12	14424747	14424747	G	A	exonic	ATF7IP	.	nonsynonymous SNV	ATF7IP:NM_001286514:exon2:c.G832A:p.E278K	.	.	437	1081	3	1	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.004	B	0.011	B	0.448	N	1.000	N	1.61	L	2.16	T	-1.045	T	0.038	T	0.238	1.366	10.50	3.42	1.323	0.096	4.727	0.017	.	0.0023	0.00738818	0.0066	0.0005	0.0048	0.0161	0.0119	0.0040	0.0066	0.0147	0.0062936	973	154602	rs2231908	0.0056	0.0056	0.0054	0.0058	0.0132	0.0055	0.0055	0.0125	0.0123	0.0009	0.0040	0.0058	0.0114	0.0094	0.0016	0.0049	0.0057	0.0132	0.0044	0.0044	0.0039	0.0049	0.0148	0.0041	0.0040	0.0122	0.0112	0.0006	0	0.0037	0.0075	0.0148	0.0115	0	0.0042	0.0090	0.0128	0.005	0.63226	D	0.285	0.23029	T	0.001	0.09854	B	0.003	0.11217	B	0.447527	0.12549	N	0.732867	1	0.08975	N	1.175	0.29870	L	2.12	0.23884	T	0.22	0.29114	N	0.055	0.02861	-1.0446	0.15942	T	0.038	0.16203	T	10	0.002712816	0.00042	T	.	.	.	0.017	0.02790	.	.	0.377143385212	0.37329	0.10561298275841698	0.10491	0.380324370331	0.39403	0.260844439268	0.04991	T	0.007964	0.16293	T	-0.531306	0.00377	T	-0.523637	0.19927	T	0.0151401533584377	0.00330	T	0.752925	0.40508	T	0.06725881	0.14548	0.05915245	0.11054	0.06725881	0.14548	0.05915245	0.11054	-5.335	0.40415	T	.	.	0.071	0.22825	B	.;.;.;.;.;.	.;.;.;.;.;.	1.920081	0.24388	16.38	0.93794750339308131	0.23760	0.08274	0.14224	N	AEFBI	0.045918	0.07565	N	-0.705733435733765	0.15860	0.803059	-0.736701423087965	0.16049	0.8472101	0.965485888128367	0.28834	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.39	3.42	0.38259	0.119000	0.15456	3.213000	0.36811	0.676000	0.76740	0.000000	0.06391	0.998000	0.33993	0.911000	0.44643	0.1204:0.0:0.6744:0.2053	4.727	0.12326	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	0.04762	6332.11	34	chr12	14424747	.	G	A	6332.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.042;DP=1234;ExcessHet=0.1072;FS=1.770;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.472;SOR=0.881	GT:AD:DP:GQ:PL	0/1:118,110:230:99:3105,0,3244	19	0	2	0
chr12	14536627	14536627	G	T	exonic	PLBD1	.	nonsynonymous SNV	PLBD1:NM_024829:exon5:c.C642A:p.N214K,	.	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.08	B	0.037	B	0.695	N	1.000	N	1.2	L	2.32	T	-0.976	T	0.032	T	0.02	-0.552	1.500	1.65	0.302	-0.296	8.405	0.020	.	.	0.00339457	0.0016	9.61e-05	0	0	0	0	0	0.0116	0.0013907	215	154602	rs200233914	0.0007	0.0007	0.0004	0.0011	0.0117	0.0007	0.0007	0.0111	0.0108	5.974e-05	2.236e-05	0	7.557e-05	0	0.0005	3.597e-06	0.0006	0.0117	0.0004	0.0004	0.0003	0.0006	0.0133	0.0003	0.0003	0.0107	0.0097	2.406e-05	0	0	0	0	0	0	0	0	0.0133	0.877	0.02562	T	0.98	0.02423	T	0.08	0.24543	B	0.037	0.23121	B	0.695216	0.06170	N	1.131530	1	0.08975	N	0.78	0.19475	N	2.32	0.16640	T	-0.63	0.18459	N	0.113	0.10056	-0.9761	0.35882	T	0.032	0.13723	T	10	0.004365802	0.00089	T	.	.	.	0.020	0.03691	0.436	0.48828	0.0482279557977	0.04254	0.29044360715942863	0.28957	0.233401467163	0.25870	0.30178374052	0.10667	T	0.001695	0.01120	T	-0.744266	0.00019	T	-0.832468	0.01219	T	0.0141011422542854	0.00275	T	0.29547	0.05467	T	0.045248024	0.07375	0.036538996	0.03122	0.045248024	0.07375	0.036538996	0.03122	-4.439	0.30082	T	.	.	0.085	0.10111	B	.	.	-0.504768	0.01852	0.149	0.47017710772682203	0.03811	0.12141	0.17085	N	AEFBI	0.238681	0.36076	N	-1.16373739054788	0.05557	0.253662	-1.15935901115773	0.06601	0.3183026	2.54551009221283E-4	0.06190	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.63	1.65	0.23015	-0.339000	0.07878	-0.142000	0.11507	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3354:0.0:0.6646:0.0	8.405	0.31771	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	0.02381	872.98	35	chr12	14536627	.	G	T	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=786;ExcessHet=0.0000;FS=3.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.106e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/1:33,36:69:99:887,0,671	20	0	1	0
chr12	19439895	19439906	GGCGGCGGAGGC	-	exonic	AEBP2	.	nonframeshift deletion	AEBP2:NM_001114176:exon1:c.196_207del:p.G70_G73del	.	.	304	1209	9	0	0	9	0.00370828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00119808	0.0163	0	0.02	0	0	0.0087	0.0208	0.0211	0.0002305	6	26028	rs558021601	0.0012	0.0012	0.0009	0.0016	0.0126	0.0012	0.0011	0.0119	0.0116	3.697e-05	0.0005	0.0057	0	0	0.0077	0.0004	0.0017	0.0126	0.0008	0.0008	0.0006	0.0011	0.0098	0.0007	0.0006	0.0076	0.0068	0.0001	0	0.0009	0.0066	0	0	0	0.0005	0.0005	0.0098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1620.07	36	chr12	19439894	.	GGGCGGCGGAGGC	G	1620.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.192;DP=623;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=23.82;ReadPosRankSum=2.32;SOR=0.671	GT:AD:DP:GQ:PL	0/1:15,25:40:99:1006,0,530	19	0	2	0
chr12	21076479	21076479	G	A	exonic	SLCO1B3-SLCO1B7;SLCO1B7	.	nonsynonymous SNV	SLCO1B7:NM_001009562:exon12:c.G1634A:p.G545E	.	.	32	1481	9	0	0	9	0.00302928	.	.	702273	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.775	H	-1.45	T	0.256	D	0.549	D	0.757	2.315	13.70	2.4	1.322	6.645	9.944	0.789	.	0.0052	0.00698882	0.0077	0.0018	0.0410	0	0.0018	0.0060	0.0077	0.0015	0.0077554	1199	154602	rs188817665	0.0064	0.0066	0.0066	0.0062	0.0310	0.0063	0.0063	0.0295	0.0289	0.0014	0.0310	0.0078	0	0.0019	0.0019	0.0065	0.0060	0.0020	0.0064	0.0064	0.0060	0.0068	0.0258	0.0061	0.0059	0.0237	0.0228	0.0023	0.0143	0.0258	0.0078	0	0.0009	0	0.0060	0.0076	0.0021	0.03	0.91255	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.869619	0.45735	D	3.85	0.95769	H	-2.14	0.86415	D	-0.64	0.94899	N	0.704	0.96871	0.256	0.86846	D	0.549	0.83446	D	10	0.009755582	0.00219	T	.	.	.	0.789	0.93028	.	.	0.604448947905	0.60128	0.9051016532319668	0.90483	0.0452562153053	0.04904	.	.	.	0.163783	0.50898	T	-0.0603123	0.42858	T	0.164274	0.81067	D	0.0827487367248945	0.10336	T	0.974702	0.91007	D	0.91133803	0.92419	0.8700772	0.92871	0.91133803	0.92420	0.8700772	0.92872	-10.744	0.78235	D	.	.	0.926	0.84672	P	.;.;.	.;.;.	2.190415	0.27925	17.63	0.99591604138847056	0.73631	0.91538	0.53740	D	AEFI	0.790312	0.71924	D	0.546453515641824	0.69868	5.418328	0.331642158265549	0.57408	3.906416	0.00122605915382854	0.08353	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	7.360000	0.78747	11.698000	0.94457	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.0:1.0:0.0	9.944	0.40767	923	0.18507	.;.;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1719.11	37	chr12	21076479	.	G	A	1719.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.382;DP=892;ExcessHet=0.1072;FS=0.506;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.85;ReadPosRankSum=-1.059e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1248,0,1651	19	0	2	0
chr12	29297064	29297064	C	G	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon3:c.C118G:p.L40V	.	.	.	.	.	.	.	.	.	.	.	2756019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.095	B	0.102	B	0.968	N	1.000	N	1.135	L	1.98	T	-0.976	T	0.080	T	0.24	0.422	6.293	-0.276	0.019	-0.317	4.825	0.028	0.00667651658738	.	.	8.288e-05	0	0	0	0	0.0001	0	0.0002	7.12e-05	11	154602	rs780215182	3.836e-05	3.831e-05	3.816e-05	3.856e-05	9.322e-05	3.029e-05	2.723e-05	4.599e-05	3.287e-05	0	0	0	0	0	0	4.32e-05	0	9.322e-05	4.595e-05	4.593e-05	3.854e-05	5.371e-05	0.0004	2.108e-05	1.526e-05	7.282e-05	3.026e-05	0	0	6.539e-05	0	0	0	0	5.88e-05	0	0.0004	0.17	0.22833	T	0.518	0.21210	T	0.095	0.25437	B	0.102	0.30857	B	0.968053	0.07760	N	1.013570	1	0.08975	N	0.05	0.08135	N	0.99	0.41750	T	-0.5	0.15782	N	0.239	0.28264	-0.9757	0.35970	T	0.080	0.31675	T	10	0.045817614	0.03697	T	0.006677	0.17642	T	0.028	0.06331	.	.	0.200294437569	0.19612	0.22800551656623771	0.22715	0.45252203657	0.44970	0.309613883495	0.11849	T	0.047943	0.27871	T	-0.377278	0.03241	T	-0.564375	0.15969	T	0.0193250956708196	0.00638	T	0.50395	0.54143	T	0.074188866	0.16632	0.056583025	0.10137	0.074188866	0.16631	0.056583025	0.10137	-4.741	0.41178	T	.	.	0.069	0.06710	B	.;.;.;.	.;.;.;.	0.731963	0.11013	7.670	0.85475665006835644	0.15916	0.04352	0.09919	N	AEFDI	0.077813	0.15685	N	-0.741753089665844	0.14858	0.7437722	-0.751623571664548	0.15682	0.8259996	6.97991454739274E-4	0.07645	0.706298	0.61202	0	0.588015	0.36545	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.44	-0.276	0.12264	-0.549000	0.06131	-0.408000	0.09366	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.1439:0.4322:0.0:0.4239	4.825	0.12775	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;Male sterility, NAD-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	1	0	0	0	0.02381	1090.98	39	chr12	29297064	.	C	G	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.034e+00;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.041;SOR=0.743	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1105,0,1316	20	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	.	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.4	M	1.14	T	-0.338	T	0.280	T	0.724	3.966	20.3	3.05	1.535	6.995	11.616	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1	441.68	95	chr12	31091731	.	C	T	441.68	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.645e+00;DP=2064;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1259;MLEAC=4;MLEAF=0.100;MQ=48.01;MQRankSum=-5.652e+00;QD=0.79;ReadPosRankSum=-2.792e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:111,24:135:99:249,0,3316	16	0	4	1
chr12	39332911	39332911	G	A	exonic	KIF21A	.	nonsynonymous SNV	KIF21A:NM_001173465:exon17:c.C2576T:p.P859L	Fibrosis of extraocular muscles, congenital, 1, Autosomal dominant;Fibrosis of extraocular muscles, congenital, 3B, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	738626	KIF21A-related_disorder|Inborn_genetic_diseases|not_provided|Congenital_fibrosis_of_extraocular_muscles_type_1	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	0.036	B	0.018	B	0.538	N	1.000	N	1.59	L	-0.32	T	-0.950	T	0.163	T	0.29	0.051	4.278	3.44	1.379	3.191	13.447	0.039	0.0301327822504	0.0007	0.00119808	0.0008	0.0009	0	0	0	0.0004	0.0011	0.0041	0.0007244	112	154602	rs149718388	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0005	0.0035	0.0033	0.0009	0	3.826e-05	2.519e-05	5.616e-05	0.0002	0.0003	0.0006	0.0038	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0006	0	6.549e-05	0	0.0002	0	0	0.0004	0	0.0044	0.03	0.46513	D	0.515	0.22962	T	0.029	0.20732	B	0.014	0.18489	B	0.538351	0.11563	N	0.749870	1	0.08975	N	0.695	0.17993	N	-0.41	0.69536	T	-3.05	0.64826	D	0.127	0.19995	-0.9502	0.40938	T	0.163	0.49897	T	10	0.008099318	0.00184	T	0.030133	0.52511	D	0.096	0.27654	.	.	0.704881100643	0.70231	0.1717208336995281	0.17092	0.269153642095	0.29430	0.382805287838	0.22654	T	0.037349	0.35863	T	-0.411157	0.01953	T	-0.363519	0.37645	T	0.0293848799807004	0.01895	T	0.743826	0.36376	T	0.040857863	0.05909	0.053731184	0.09108	0.044193167	0.07020	0.052044023	0.08496	-4.386	0.31006	T	0.1496355037924399	0.17513	0.075	0.05711	B	.;.;.;.;.	.;.;.;.;.	2.520475	0.32570	19.08	0.78372640523614312	0.12273	0.50027	0.28568	D	ALL	0.173995	0.30110	N	-0.371508637988561	0.26490	1.446065	-0.438988941593598	0.23863	1.303571	0.996927906509899	0.35121	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.58	3.44	0.38486	3.516000	0.53194	6.409000	0.55591	-0.103000	0.15852	0.790000	0.29595	0.997000	0.33255	0.003000	0.05239	0.149:0.0:0.851:0.0	13.447	0.60597	811	0.42639	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	731.98	34	chr12	39332911	.	G	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=781;ExcessHet=0.0000;FS=2.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.962;SOR=0.346	GT:AD:DP:GQ:PL	0/1:32,26:58:99:746,0,893	20	0	1	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	0/1:38,31,5:74:99:.:.:158,0,566,226,611,859	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	0/1:38,31,5:74:99:.:.:158,0,566,226,611,859	2	0	14	4
chr12	40444476	40444476	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	D	2.335	M	.	.	-0.182	T	0.400	T	0.248	4.397	23.3	4.67	2.539	9.267	17.212	0.376	.	.	0.00419329	0.0076	0	0.0068	0	0	0	0	0.0165	0.0010543	163	154602	rs532050552	0.0011	0.0009	0.0006	0.0017	0.0164	0.0011	0.0011	0.0157	0.0154	0.0001	7.074e-05	0	0	0	0.0014	7.601e-06	0.0013	0.0164	0.0006	0.0006	0.0004	0.0008	0.0174	0.0005	0.0004	0.0144	0.0133	2.405e-05	0	0	0	0.0002	0	0.0034	0	0	0.0174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1748.98	44	chr12	40444476	.	G	A	1748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=957;ExcessHet=0.0000;FS=5.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-5.190e-01;SOR=0.386	GT:AD:DP:GQ:PL	0/1:79,69:148:99:1763,0,2098	20	0	1	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|1:864,172,0:1036:99:0|1:40482890_T_A:3874,0,34657,6507,34007,40514:40482890	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|1:990,98,0:1088:99:0|1:40482890_T_A:1135,0,40452,4106,39630,43519:40482890	10	0	5	5
chr12	40482955	40482955	A	0	exonic	MUC19	.	.	.	.	.	0	184	40	0	2	42	0.0980392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8116.75	1036	chr12	40482955	.	A	G,*	8116.75	.	AC=4,1;AF=0.133,0.033;AN=30;BaseQRankSum=1.89;DP=20287;ExcessHet=1.1607;FS=1.921;InbreedingCoeff=-0.2353;MLEAC=5,1;MLEAF=0.167,0.033;MQ=58.54;MQRankSum=-2.480e+01;QD=1.41;ReadPosRankSum=-6.790e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:986,86,0:1072:99:0|1:40482890_T_A:644,0,40320,3603,39462,42847:40482890	10	0	4	6
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	0/1:433,425,0:858:99:11675,0,12114,13724,14114,31582	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	0/1:413,400,0:813:99:10839,0,11556,12803,13493,30030	4	9	7	0
chr12	40485937	40485966	AGTGACAGGGACAACTGGACAATCAGCTGA	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.522e-05	3.215e-05	4.238e-05	7.019e-05	0.0022	4.232e-05	3.785e-05	0.0016	0.0014	0	0	0	0	0	0	6.563e-06	0.0002	0.0022	4.62e-05	4.604e-05	6.453e-05	2.702e-05	0.0015	2.118e-05	1.532e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	10015.94	510	chr12	40485936	.	GAGTGACAGGGACAACTGGACAATCAGCTGA	G	10015.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.762;DP=16236;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.59;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-1.679e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/1:386,371:757:99:10030,0,19424	20	0	1	0
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	722.68	783	chr12	40487422	.	A	ACC	722.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-6.360e-01;DP=22774;ExcessHet=0.3300;FS=7.848;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=58.23;MQRankSum=-2.943e+01;QD=0.25;ReadPosRankSum=1.76;SOR=1.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:945,69:1014:53:0|1:40487422_A_ACC:53,0,39200:40487422	17	0	3	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|2:945,0,87,0:1032:99:0|1:40487422_A_ACC:809,3653,43222,0,39569,39307,3653,43222,39569,43222:40487422	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|2:945,0,87,0:1032:99:0|1:40487422_A_ACC:809,3653,43222,0,39569,39307,3653,43222,39569,43222:40487422	4	0	6	1
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2114.68	803	chr12	40487442	.	G	GGCT	2114.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.626e+00;DP=23133;ExcessHet=0.3300;FS=0.986;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=57.88;MQRankSum=-2.864e+01;QD=0.75;ReadPosRankSum=0.033;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:908,80:988:99:0|1:40487422_A_ACC:553,0,37281:40487422	17	0	3	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|2:901,0,80:981:99:0|1:40487422_A_ACC:573,3289,40517,0,37228,36987:40487422	3	0	6	3
chr12	45945300	45945300	C	T	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon6:c.G412A:p.V138I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.0	B	0.368	N	1.000	N	0	N	1.09	T	-1.052	T	0.042	T	0.039	-0.455	1.894	-8.91	-1.713	-1.548	5.046	0.011	0.00120876141622	.	0.000599042	0.0001	0	0	0	0	1.503e-05	0	0.0010	0.0001358	21	154602	rs534626567	5.294e-05	6.773e-05	4.08e-05	6.517e-05	0.0008	4.326e-05	3.945e-05	0.0006	0.0006	6.434e-05	0	0	0	0	0	2.762e-06	0.0001	0.0008	4.598e-05	4.594e-05	2.571e-05	6.716e-05	0.0010	2.109e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	1.0	0.00964	T	0.84	0.03610	T	0.001	0.07471	B	0.0	0.01387	B	0.367883	0.04344	N	1.583750	1	0.08975	N	-1.495	0.00516	N	1.09	0.39223	T	-0.04	0.07590	N	0.015	0.00181	-1.0520	0.13845	T	0.042	0.18243	T	10	0.0047436357	0.00100	T	0.001209	0.01583	T	0.011	0.01250	0.361	0.36548	0.102598925029	0.09809	0.07729951556530386	0.07665	0.0335532273427	0.03518	0.33911126852	0.16305	T	0.010342	0.09344	T	-0.645679	0.00077	T	-0.765004	0.02936	T	0.0109039286994165	0.00156	T	0.29697	0.05508	T	0.011990448	0.00025	0.015935715	0.00011	0.011990448	0.00025	0.015935715	0.00011	-3.329	0.14113	T	.	.	0.071	0.03964	B	.	.	-0.730206	0.01253	0.064	0.4617525450084029	0.03679	0.00518	0.02416	N	AEFBI	0.015850	0.00323	N	-1.49686202412414	0.01872	0.08212549	-1.53727179278391	0.02065	0.09441442	0.999999606517583	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.11	-8.91	0.00669	-1.445000	0.02507	-3.078000	0.03081	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.867000	0.41218	0.1127:0.4838:0.2289:0.1746	5.046	0.13823	860	0.33753	.	.	.	.	.	.	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	1223.98	34	chr12	45945300	.	C	T	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.920e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-7.520e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1238,0,1144	20	0	1	0
chr12	47857605	47857605	G	A	exonic	VDR	.	nonsynonymous SNV	VDR:NM_001374662:exon4:c.C361T:p.R121W	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	.	0	1516	5	1	0	7	0.00230339	.	.	948026	Vitamin_D-dependent_rickets_type_II_with_alopecia|not_provided	MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.951	D	0.129	N	0.997	D	1.495	L	-2.84	D	0.597	D	0.807	D	0.455	3.917	19.92	0.417	0.304	1.960	11.800	0.580	0.325836657538	.	.	4.118e-05	0	0	0	0	7.492e-05	0	0	3.23e-05	5	154602	rs752590757	3.557e-05	3.625e-05	3.267e-05	3.85e-05	0.0001	2.762e-05	2.501e-05	4.358e-05	2.767e-05	0	0.0001	0	5.038e-05	0	0	3.777e-05	4.967e-05	0	3.285e-05	3.283e-05	3.854e-05	2.69e-05	6.546e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.826e-05	0	6.546e-05	0	0	0	0	2.94e-05	0	0	0.017	0.51248	D	0.018	0.60337	D	0.989	0.62824	D	0.757	0.56292	P	0.128672	0.18722	N	0.561412	0.996856	0.43461	D	2.51	0.73131	M	-3.28	0.93740	D	-2.16	0.57920	N	0.392	0.43995	0.597	0.91860	D	0.807	0.93475	D	10	0.39870116	0.55413	T	0.325837	0.91609	D	0.580	0.83081	0.437	0.48993	0.956658417571	0.95619	0.827028563576721	0.82660	1.19889385276	0.80480	0.523891448975	0.42174	T	0.739	0.92741	D	0.000928331	0.51783	T	-0.0387999	0.67782	D	0.386347621679306	0.28426	T	0.963804	0.87188	D	0.36107057	0.57917	0.20850997	0.45157	0.36107057	0.57918	0.20850997	0.45156	-12.31	0.86782	D	.	.	0.160	0.47773	B	.;.;.;.;.	.;.;.;.;.	4.744069	0.76536	26.5	0.99910818914674959	0.98022	0.82404	0.41637	D	AEFBHCI	0.794269	0.72202	D	0.207410622176264	0.51557	3.336041	0.134714871102029	0.46336	2.881331	0.781063203533406	0.23844	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.44	0.417	0.15639	1.950000	0.39948	3.472000	0.38588	0.614000	0.49286	0.980000	0.35271	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.2837:0.7162	11.800	0.51394	884	0.28482	.;.;.;.;.	.	.	.	.	.	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	0.02381	1329.98	36	chr12	47857605	.	G	A	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.46;ReadPosRankSum=-1.057e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1344,0,700	20	0	1	0
chr12	47966220	47966220	T	G	exonic	TMEM106C	.	nonsynonymous SNV	TMEM106C:NM_001143842:exon5:c.T543G:p.S181R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.977	D	0.000	D	1.000	D	2.28	M	1.85	T	-1.022	T	0.124	T	0.719	3.472	17.77	-0.148	-0.025	-0.984	8.435	0.308	0.0120936793697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.91255	D	0.057	0.92824	T	0.999	0.77913	D	0.977	0.73820	D	0.000000	0.84330	D	0.045953	0.999657	0.81001	D	2.85	0.82803	M	1.85	0.25996	T	-2.71	0.79060	D	0.301	0.34228	-1.0218	0.23129	T	0.124	0.42778	T	9	0.33430776	0.50607	T	0.012094	0.30348	T	0.308	0.62947	0.591	0.71999	0.351180957027	0.34734	0.771240959969999	0.77074	0.267977626599	0.29332	0.438017308712	0.30306	T	0.011461	0.10219	T	0.0255337	0.55126	T	-0.201099	0.54542	T	0.990225493907928	0.80441	D	0.710329	0.32115	T	0.46491715	0.64977	0.2669237	0.52543	0.46491715	0.64978	0.2669237	0.52542	-6.645	0.51395	T	.	.	0.448	0.63362	A	.;.;.;.	.;.;.;.	1.915164	0.24327	16.35	0.99754013113270523	0.84460	0.35628	0.25346	N	AEFGBI	.	.	.	-0.00621620332576345	0.41572	2.489092	-0.176533051842724	0.32402	1.843062	0.999904446809915	0.45458	0.744818	0.98587	0	0.732433	0.95613	0	0.693144	0.63139	0	0.714379	0.83352	0	.	.	4.17	-0.148	0.12767	-0.865000	0.04358	-3.236000	0.02946	0.665000	0.62972	0.108000	0.22953	0.000000	0.08366	0.997000	0.79791	0.0:0.339:0.0:0.661	8.435	0.31943	705	0.57330	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1491.98	49	chr12	47966220	.	T	G	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.490e-01;DP=914;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.500e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1506,0,1905	20	0	1	0
chr12	49598939	49598939	G	A	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon5:c.C2180T:p.A727V,	.	.	434	1063	24	1	0	26	0.0120818	.	.	702346	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.878	N	1.000	N	-2.08	N	2.65	T	-0.957	T	0.006	T	0.058	-2.070	0.006	2.74	0.407	2.260	6.932	0.048	.	0.0032	0.00539137	0.0056	0.0007	0.0021	0	0.0014	0.0051	0.0077	0.0177	0.0051358	794	154602	rs140003810	0.0047	0.0047	0.0041	0.0052	0.0197	0.0046	0.0046	0.0189	0.0186	0.0005	0.0014	0.0002	2.519e-05	0.0021	0.0061	0.0042	0.0047	0.0197	0.0032	0.0033	0.0029	0.0036	0.0186	0.0030	0.0029	0.0155	0.0143	0.0008	0.0175	0.0014	0	0	0.0025	0.0034	0.0044	0.0038	0.0186	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.877850	0.07216	N	1.075970	1	0.08975	N	-2.08	0.00163	N	2.65	0.12676	T	3.44	0.00324	N	0.293	0.33140	-0.9574	0.39662	T	0.006	0.01944	T	9	0.0028708577	0.00046	T	.	.	.	0.048	0.13305	.	.	0.0138822411134	0.00435	0.006501787356334028	0.00618	0.126722892761	0.14277	0.278444051743	0.07277	T	0.003863	0.03272	T	-0.708018	0.00033	T	-0.775515	0.02591	T	0.00702456807184596	0.00080	T	0.516848	0.16688	T	0.02423376	0.01234	0.04665354	0.06548	0.020508569	0.00611	0.048685294	0.07282	-3.957	0.23158	T	.	.	0.049	0.00354	B	.;.	.;.	0.323841	0.06985	3.535	0.57663752355777087	0.05819	0.00054	0.00410	N	AEFDBI	0.019222	0.00648	N	-1.30293351847101	0.03642	0.163038	-1.17095918037805	0.06399	0.3079119	0.00212603477977625	0.09174	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.26	2.74	0.31352	2.305000	0.43324	4.702000	0.44414	-0.112000	0.15009	0.018000	0.19461	0.231000	0.23784	0.023000	0.12082	0.8125:0.0:0.1875:0.0	6.932	0.23625	231	0.90996	.;.	.	.	.	.	.	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	1021.98	33	chr12	49598939	.	G	A	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.758e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-3.050e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:66,44:110:99:1036,0,1786	20	0	1	0
chr12	49965085	49965085	G	A	exonic	AQP5	.	nonsynonymous SNV	AQP5:NM_001651:exon4:c.G706A:p.V236M,	Palmoplantar keratoderma, Bothnian type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3286066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.918	N	0.997	N	1.61	L	-2.33	D	-0.623	T	0.497	T	0.09	0.940	8.831	2.38	0.305	0.579	7.180	0.095	0.0260767279397	.	.	0.0001	0	0	0	0	1.506e-05	0.0011	0.0010	0.0001164	18	154602	rs747365491	8.414e-05	8.414e-05	4.492e-05	0.0001	0.0016	7.203e-05	6.75e-05	0.0010	0.0009	0	0	0	2.519e-05	0	0.0016	4.496e-06	6.623e-05	0.0012	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.231	0.18246	T	0.146	0.32891	T	0.001	0.07471	B	0.002	0.06944	B	0.918181	0.08505	N	0.956613	0.996913	0.22858	N	0.92	0.23413	L	-2.33	0.87910	D	0.11	0.05706	N	0.08	0.05542	-0.6229	0.63868	T	0.497	0.80965	T	10	0.029852092	0.01111	T	0.026077	0.49013	D	0.095	0.27398	0.352	0.35084	0.792489852613	0.79056	0.3346052214860197	0.33373	0.36051773859	0.37721	0.416901111603	0.27411	T	0.199112	0.55629	T	-0.397055	0.02420	T	-0.407873	0.32469	T	0.0310547258704901	0.02155	T	0.710029	0.32075	T	0.08322293	0.19210	0.06251498	0.12243	0.08322293	0.19209	0.06251498	0.12242	-3.08	0.11068	T	.	.	0.121	0.25034	B	.	.	2.583981	0.33511	19.36	0.93492671220281953	0.23296	0.21873	0.21554	N	AEFDGBI	0.123333	0.23888	N	-0.697868862140529	0.16083	0.8162544	-0.687428475422976	0.17275	0.9178094	0.999958737731187	0.48110	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.23	2.38	0.28415	0.288000	0.18695	0.797000	0.21623	0.676000	0.76740	0.008000	0.17931	0.175000	0.23375	0.992000	0.67800	0.1598:0.1407:0.6995:0.0	7.180	0.24945	227	0.91186	.	.	.	.	.	.	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	646.98	37	chr12	49965085	.	G	A	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=759;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=0.749;SOR=0.891	GT:AD:DP:GQ:PL	0/1:46,27:73:99:661,0,1146	20	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic 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	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,31:89:99:.:.:223,0,862	8	0	9	4
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|1:88,37,0:125:99:0|1:52949249_G_A:1289,0,3584,1554,3695,5249:52949249	0	0	20	0
chr12	53185420	53185420	C	T	exonic	ZNF740	.	nonsynonymous SNV	ZNF740:NM_001004304:exon4:c.C193T:p.R65C,	.	.	430	1057	34	1	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.931	P	0.061	B	0.003	N	1.000	D	0.55	N	3.07	T	-0.842	T	0.008	T	0.68	3.905	19.86	3.96	1.416	4.098	10.685	0.087	0.0244779474361	0.0054	0.00159744	0.0052	0.0004	0.0034	0	0.0047	0.0070	0.0045	0.0050	0.0052134	806	154602	rs187594342	0.0068	0.0068	0.0068	0.0068	0.0092	0.0067	0.0067	0.0073	0.0073	0.0012	0.0027	0.0179	2.519e-05	0.0042	0.0092	0.0074	0.0073	0.0040	0.0044	0.0044	0.0044	0.0044	0.0065	0.0041	0.0040	0.0060	0.0058	0.0008	0.0011	0.0020	0.0225	0	0.0047	0.0034	0.0065	0.0071	0.0042	0.0	0.91255	D	0.002	0.79402	D	0.931	0.51899	P	0.061	0.26820	B	0.002536	0.36389	N	0.194783	0.999999	0.58761	D	1.87	0.49600	L	3.07	0.08547	T	-1.24	0.31375	N	0.584	0.60495	-0.8420	0.52513	T	0.008	0.02679	T	10	0.0073727965	0.00168	T	0.024478	0.47468	T	0.087	0.25287	.	.	0.171220215726	0.16700	0.3601703895602559	0.35931	1.08449223616	0.77234	0.688966810703	0.65558	T	0.046019	0.27299	T	-0.332407	0.05931	T	-0.243717	0.50435	T	0.0609010521928479	0.07310	T	0.838916	0.51225	T	0.23191017	0.45970	0.1342924	0.32183	0.23191017	0.45970	0.1342924	0.32182	-4.923	0.35993	T	.	.	0.218	0.44847	B	.	.	5.114336	0.85514	28.6	0.99923972068901667	0.98917	0.91169	0.52995	D	AEFBI	0.534972	0.55379	D	0.0597712260261759	0.44592	2.73052	0.157251626061201	0.47527	2.981637	0.999994350597713	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	3.96	0.45097	4.313000	0.58952	5.944000	0.51530	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9094:0.0:0.0906	10.685	0.45033	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1503.11	33	chr12	53185420	.	C	T	1503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.42;DP=744;ExcessHet=0.1072;FS=1.658;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=1.43;SOR=0.884	GT:AD:DP:GQ:PL	0/1:19,31:50:99:819,0,380	19	0	2	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:18,29,0:47:99:656,0,344,710,431,1141	11	0	9	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L,	Vitamin D-dependent rickets, type I, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	870243	Vitamin_D-dependent_rickets,_type_1|not_provided	MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.015	B	0.071	B	0.000	D	0.761	N	0.81	L	-0.2	T	-0.912	T	0.151	T	0.407	0.345	5.874	5.06	2.625	2.415	10.861	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	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	2228.98	40	chr12	57765390	.	C	G	2228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.129e+00;DP=943;ExcessHet=0.0000;FS=2.364;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=0.705;SOR=0.887	GT:AD:DP:GQ:PL	0/1:116,96:212:99:2243,0,2962	20	0	1	0
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:39,13:52:6:6,0,722	15	0	6	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	0/1:7,7,7,1:22:10:152,0,180,10,26,94,192,132,110,399	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	0/1:7,7,7,1:22:10:152,0,180,10,26,94,192,132,110,399	3	0	8	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.777	P	0.396	B	.	.	1.000	D	0.55	N	0.89	T	-1.071	T	0.085	T	0.103	3.967	20.3	5.15	1.539	4.327	14.440	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	32.1	46	chr12	70635944	.	G	A	32.1	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.245e+00;DP=1302;ExcessHet=0.6776;FS=145.640;InbreedingCoeff=-0.2101;MLEAC=3;MLEAF=0.107;MQ=60.00;MQRankSum=0.00;QD=0.11;ReadPosRankSum=1.01;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,19:71:19:.:.:19,0,1057	10	0	4	7
chr12	90972869	90972869	C	T	exonic	EPYC	.	nonsynonymous SNV	EPYC:NM_004950:exon4:c.G452A:p.R151H,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.987	D	0.000	D	1.000	D	0.935	L	4.27	T	-1.100	T	0.025	T	0.895	5.486	35	5.98	2.838	7.487	20.443	0.438	0.0767992588811	.	0.000399361	0.0003	0	8.669e-05	0	0	8.996e-05	0.0055	0.0018	0.0002781	43	154602	rs577030828	0.0002	0.0002	8.443e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	5.978e-05	0	0	2.524e-05	0	0.0005	7.107e-05	0.0003	0.0014	0.0001	0.0001	0.0001	0.0001	0.0010	7.582e-05	6.285e-05	0.0004	0.0003	2.41e-05	0	6.549e-05	0	0	0	0	0.0001	0.0014	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.39	0.34934	L	4.27	0.02513	T	-4.66	0.79571	D	0.794	0.79022	-1.0998	0.04116	T	0.025	0.10866	T	10	0.075045854	0.11550	T	0.076799	0.72618	D	0.438	0.74235	.	.	0.843909583617	0.84241	0.6971677499008279	0.69657	0.0953457349355	0.10770	0.709846019745	0.68571	T	0.171824	0.52010	T	-0.116598	0.33681	T	0.02436	0.71912	D	0.188262343406677	0.19741	T	0.989101	0.96464	D	0.70729965	0.78459	0.6349588	0.78691	0.70729965	0.78460	0.6349588	0.78692	-12.424	0.86856	D	.	.	0.839	0.79209	P	.;.	.;.	5.661615	0.92878	33	0.99955420818358043	0.99969	0.98386	0.82248	D	AEFBI	0.935052	0.92934	D	0.753992921862142	0.83165	7.946293	0.798754727509044	0.89707	10.08714	0.999999999998681	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	7.568000	0.81546	7.674000	0.64943	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.443	0.99121	925	0.17918	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1260.98	34	chr12	90972869	.	C	T	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=802;ExcessHet=0.0000;FS=1.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.51;SOR=0.900	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1275,0,1311	20	0	1	0
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S,	.	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.0	B	0.018	N	0.995	N	-0.205	N	-0.73	T	-1.003	T	0.097	T	0.297	0.420	6.283	-0.9	0.067	0.481	5.946	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3560.11	34	chr12	104067989	.	C	T	3560.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.178;DP=955;ExcessHet=0.1072;FS=2.062;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.613;SOR=0.844	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1618,0,1488	19	0	2	0
chr12	108519456	108519456	C	T	exonic	FICD	.	nonsynonymous SNV	FICD:NM_007076:exon3:c.C1358T:p.T453M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.79	L	.	.	-0.230	T	0.430	T	0.694	4.685	25.9	6.02	2.865	7.122	20.541	0.235	0.0244077763877	7.7e-05	.	8.591e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372450332	3.768e-05	3.831e-05	4.906e-05	2.618e-05	8.971e-05	2.964e-05	2.66e-05	2.832e-05	2.511e-05	8.971e-05	0	0	2.522e-05	7.511e-05	0	3.783e-05	4.973e-05	2.32e-05	3.291e-05	3.285e-05	1.286e-05	5.392e-05	0.0002	1.263e-05	7.99e-06	1.171e-05	6.25e-06	2.418e-05	0	0	0	0	0	0	4.411e-05	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045575	1	0.81001	D	2.52	0.73523	M	.	.	.	-0.95	0.25332	N	0.571	0.59393	-0.2296	0.76898	T	0.430	0.77206	T	9	0.6197666	0.67910	D	0.024408	0.47398	T	0.235	0.53788	.	.	0.684844282287	0.68215	0.717776681358616	0.71720	0.884053583182	0.69892	0.569028913975	0.48540	T	0.057613	0.30615	T	0.0822132	0.62299	D	0.0618451	0.74367	D	0.922557294368744	0.58275	D	0.742826	0.36203	T	0.29832962	0.52754	0.33096468	0.58960	0.29832962	0.52754	0.33096468	0.58959	-4.51	0.31019	T	.	.	0.105	0.19194	B	.	.	4.472345	0.69705	25.4	0.99891454219802056	0.96513	0.99280	0.93881	D	AEFDBCI	0.800105	0.72618	D	0.840990273348937	0.88587	9.635423	0.852160128548935	0.93143	11.851	1.0	0.98316	0.562547	0.31514	0	0.577304	0.33150	0	0.536957	0.11973	0	0.635551	0.53088	0	.	.	6.02	6.02	0.97559	7.455000	0.79783	3.171000	0.36612	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.998000	0.85391	0.0:1.0:0.0:0.0	20.541	0.99263	888	0.27761	.	.	.	.	.	.	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	3069.98	43	chr12	108519456	.	C	T	3069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.66;DP=961;ExcessHet=0.0000;FS=0.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=2.15;SOR=0.741	GT:AD:DP:GQ:PL	0/1:126,121:247:99:3084,0,2816	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,72:72:99:1|1:111598949_GGCT_G:2947,2947,2947,217,217,0:111598949	2	0	0	0
chr12	112235243	112235243	T	A	exonic	HECTD4	.	nonsynonymous SNV	HECTD4:NM_001109662:exon37:c.A5779T:p.T1927S,	.	.	426	1095	1	0	0	1	0.000456413	.	.	3191692	HECTD4-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.003	B	.	.	1.000	D	0	N	0.96	T	-1.092	T	0.050	T	0.08	3.292	17.06	6.03	2.302	4.690	16.566	0.060	0.00071054867033	0.0041	0.00139776	0.0026	0.0010	0.0007	0	0.0008	0.0042	0.0011	0.0006	0.0029624	458	154602	rs111790702	0.0052	0.0052	0.0053	0.0051	0.0064	0.0051	0.0050	0.0063	0.0062	0.0007	0.0008	0.0012	2.519e-05	0.0007	0.0019	0.0064	0.0042	0.0009	0.0028	0.0028	0.0030	0.0026	0.0054	0.0026	0.0025	0.0049	0.0047	0.0010	0	0.0005	0	0	9.416e-05	0	0.0054	0.0033	0.0008	.	.	.	0.616	0.07543	T	.	.	.	.	.	.	.	.	.	.	0.997719	0.44125	D	.	.	.	.	.	.	.	.	.	0.123	0.21969	-1.0920	0.05207	T	0.050	0.21222	T	9	0.0058683753	0.00131	T	7.11E-4	0.00454	T	0.060	0.17295	.	.	0.043077524339	0.03247	0.1659903895255529	0.16519	0.573995921077	0.53440	0.484073996544	0.36618	T	0.004906	0.04322	T	-0.557584	0.00262	T	-0.56858	0.15579	T	0.0143301920940597	0.00286	T	0.80032	0.44603	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.023969	0.25718	16.86	0.98910114609892907	0.48363	0.97549	0.75477	D	AEFBI	0.621250	0.60601	D	-0.101275346701701	0.37338	2.170815	0.140056368065171	0.46618	2.904872	0.864137033819218	0.25284	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	4.671000	0.61283	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0:0.0:1.0	16.566	0.84437	101	0.95833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1049.98	33	chr12	112235243	.	T	A	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.246;DP=783;ExcessHet=0.0000;FS=5.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.216e+00;SOR=0.313	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1064,0,1288	20	0	1	0
chr12	115983465	115983465	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon21:c.C4607T:p.A1536V,	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	YES	0	1518	4	0	0	4	0.00131579	.	.	1224083	not_provided|MED13L-related_disorder|Transposition_of_the_great_arteries,_dextro-looped	MedGen:C3661900|.|MONDO:MONDO:0012128,MedGen:C1837341,OMIM:608808,Orphanet:860	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.173	N	0.504	D	0	N	-0.85	T	-0.794	T	0.180	T	0.306	3.121	16.43	6.17	2.941	3.472	9.708	0.185	.	.	0.00339457	0.0023	0	8.645e-05	0	0	0	0.0033	0.0164	0.0019081	295	154602	rs527644823	0.0010	0.0010	0.0005	0.0016	0.0167	0.0010	0.0010	0.0160	0.0157	0	4.472e-05	0	2.519e-05	0	0.0005	7.194e-06	0.0012	0.0167	0.0005	0.0005	0.0003	0.0008	0.0170	0.0004	0.0004	0.0140	0.0129	2.405e-05	0	0	0	0	0	0	0	0	0.0170	0.068	0.35726	T	0.015	0.61642	D	0.001	0.07471	B	0.002	0.06944	B	0.172643	0.17330	N	0.613480	0.503785	0.31763	D	0.805	0.20218	L	-0.85	0.74371	T	-0.85	0.23156	N	0.132	0.12770	-0.7940	0.55496	T	0.180	0.52705	T	10	0.005584836	0.00123	T	.	.	.	0.185	0.45933	.	.	0.382275360157	0.37844	0.38259039107341714	0.38174	0.603781052324	0.55342	0.391021996737	0.23813	T	0.026108	0.19387	T	-0.367278	0.03734	T	-0.287372	0.46044	T	0.031336040538738	0.02199	T	0.760924	0.38541	T	0.05048582	0.09128	0.057174284	0.10345	0.050798588	0.09234	0.050281417	0.07861	-4.555	0.31601	T	0.2609314874784989	0.35231	0.084	0.10497	B	.;.	.;.	3.505792	0.49069	22.7	0.99616564354639137	0.75172	0.92069	0.54876	D	AEFDGBHCI	0.400146	0.47514	N	-0.132378741849924	0.35988	2.074192	0.118926005310028	0.45518	2.813488	0.999999765363425	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.697927	0.64325	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	2.545000	0.45429	8.516000	0.77406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0749:0.1829:0.7422:0.0	9.708	0.39395	980	0.04108	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1377.98	35	chr12	115983465	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.177e+00;DP=835;ExcessHet=0.0000;FS=3.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-1.401e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/1:77,59:136:99:1392,0,2075	20	0	1	0
chr12	117761028	117761028	G	C	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon4:c.C969G:p.D323E,	.	.	433	1051	35	3	0	41	0.0191321	.	.	1590532	not_provided|KSR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.24	T	0.015	B	0.01	B	0.000	N	0.882	D	1.735	L	0.64	T	-1.102	T	0.065	T	0.216	1.664	11.52	-2.89	-1.082	-2.640	6.890	0.110	.	0.0025	0.0103834	0.0082	0.0002	0.0036	0.0001	0.0002	0.0037	0.0068	0.0414	0.0071927	1112	154602	rs141457085	0.0043	0.0043	0.0032	0.0056	0.0402	0.0043	0.0042	0.0391	0.0386	0.0004	0.0030	0.0071	0.0001	0.0002	0.0236	0.0019	0.0057	0.0402	0.0032	0.0032	0.0029	0.0035	0.0342	0.0030	0.0029	0.0299	0.0283	0.0005	0.0044	0.0041	0.0086	0.0004	0.0003	0.0340	0.0027	0.0057	0.0342	0.383	0.11085	T	0.519	0.10714	T	0.015	0.17086	B	0.01	0.14941	B	0.000015	0.62929	N	0.111914	0.881963	0.35769	D	0.815	0.20815	L	0.64	0.52867	T	-1.16	0.29727	N	0.212	0.23632	-1.1020	0.03857	T	0.065	0.26948	T	10	0.0028678179	0.00046	T	.	.	.	0.110	0.31079	0.289	0.24921	0.390598846067	0.38674	0.3763064201691893	0.37544	0.643779572933	0.57903	0.589513301849	0.51426	T	0.296005	0.66865	T	-0.589331	0.00169	T	-0.590034	0.13662	T	0.00410477713333887	0.00044	T	0.70223	0.31206	T	0.05982418	0.12203	0.0596812	0.11241	0.05982418	0.12202	0.0596812	0.11241	-3.052	0.10752	T	.	.	0.073	0.08705	B	.;.	.;.	-0.802662	0.01101	0.050	0.95443789358171249	0.26955	0.19524	0.20694	N	AEFDBI	0.369826	0.45641	N	-0.958532844071779	0.09502	0.450003	-0.952319441677368	0.10869	0.5502401	0.0015609673761638	0.08639	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.23	-2.89	0.05326	-2.914000	0.00763	-6.349000	0.01424	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.4978:0.2198:0.2823:0.0	6.890	0.23403	872	0.31118	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2477.92	34	chr12	117761028	.	G	C	2477.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.20;DP=829;ExcessHet=0.6776;FS=0.499;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.681;SOR=0.645	GT:AD:DP:GQ:PL	0/1:38,34:72:99:819,0,865	17	0	4	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	0/2:54,0,66:120:99:2522,2685,4927,0,2242,2042	13	1	4	0
chr12	122200800	122200800	C	A	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon10:c.C1675A:p.P559T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.846	P	0.030	N	0.788	N	2.36	M	-0.18	T	-0.188	T	0.527	D	0.243	3.368	17.35	4.39	1.184	3.252	13.776	0.265	0.198403009929	.	.	3.411e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs747256381	6.161e-06	6.156e-06	4.087e-06	8.257e-06	8.116e-05	2.9e-06	2.1e-06	3.765e-05	2.662e-05	0	4.472e-05	0	0	0	0	0	0	8.116e-05	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	0.007	0.59928	D	0.013	0.63109	D	0.979	0.59044	D	0.846	0.60472	P	0.029564	0.25434	N	0.397457	0.788082	0.29257	N	2.87	0.83286	M	-0.78	0.73631	T	-5.64	0.86914	D	0.753	0.75192	-0.1883	0.77971	T	0.527	0.82399	D	10	0.6585002	0.70015	D	0.198403	0.86593	D	0.265	0.57870	0.352	0.35084	0.31411915649	0.31020	0.5024635416682446	0.50168	0.925594653911	0.71622	0.405045032501	0.25770	T	0.065285	0.32650	T	-0.225397	0.17263	T	-0.282108	0.46588	T	0.864057242870331	0.51425	D	0.765923	0.39354	T	0.22001493	0.44547	0.25748911	0.51466	0.22001493	0.44546	0.25748911	0.51465	-10.49	0.76790	D	.	.	0.146	0.32324	B	.	.	4.048182	0.59987	24.2	0.997597101826314	0.84931	0.89458	0.49935	D	AEFDBHCI	0.398248	0.47400	N	0.471804332247695	0.65452	4.824098	0.400382190512554	0.61588	4.361119	0.999999945307169	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.584449	0.35598	0	.	.	5.31	4.39	0.52211	3.820000	0.55393	2.455000	0.32829	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.261000	0.23543	0.0:0.846:0.154:0.0	13.776	0.62543	759	0.50631	.	.	.	.	.	.	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	1446.98	40	chr12	122200800	.	C	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e-01;DP=903;ExcessHet=0.0000;FS=3.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-8.120e-01;SOR=0.421	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1461,0,1306	20	0	1	0
chr12	123913135	123913135	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon59:c.G9818A:p.R3273Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.593	P	0.206	B	0.079	N	0.993	D	1.65	L	-0.78	T	-0.747	T	0.391	T	0.19	2.180	13.24	5.54	2.592	4.809	19.466	0.106	0.029729491702	8.4e-05	.	0.0001	0	0.0001	0	0	3.833e-05	0.0015	0.0005	7.12e-05	11	154602	rs376946277	0.0001	0.0001	8.041e-05	0.0001	0.0016	8.794e-05	8.28e-05	0.0008	0.0006	2.988e-05	0	0	0	0	0.0016	7.199e-05	0.0002	0.0006	9.201e-05	9.194e-05	8.994e-05	9.419e-05	0.0004	5.529e-05	4.366e-05	7.293e-05	4.302e-05	0.0001	0	0	0	0	0	0	7.349e-05	0.0005	0.0004	0.075	0.34444	T	0.059	0.45961	T	0.593	0.39147	P	0.206	0.37138	B	0.078806	0.02331	N	2.169660	0.992913	0.41780	D	1.485	0.37223	L	-1.4	0.80474	T	-3.57	0.68999	D	.	.	-0.7466	0.58113	T	0.391	0.74510	T	10	0.12737039	0.24222	T	0.029729	0.52182	D	0.282	0.59981	.	.	0.520963378925	0.51741	0.21055801526122564	0.20971	0.22211241292	0.24744	0.410459458828	0.26520	T	0.230822	0.59699	T	-0.310217	0.07729	T	-0.324801	0.42045	T	0.0609051721870607	0.07310	T	0.910909	0.68443	D	0.17854919	0.38881	0.19334385	0.42897	0.17854919	0.38880	0.19334385	0.42896	-4.853	0.35202	T	.	.	0.167	0.36850	B	.;.;.	.;.;.	4.682969	0.74965	26.2	0.98888922053154393	0.47966	0.94860	0.62581	D	AEFDBIJ	0.622008	0.60649	D	0.100617492505488	0.46491	2.888662	0.157687278804389	0.47550	2.983623	0.995757050849086	0.34306	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	5.54	0.82907	4.910000	0.63017	8.520000	0.77419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	0.0:0.0:1.0:0.0	19.466	0.94936	730	0.54327	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3108.98	33	chr12	123913135	.	G	A	3108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=943;ExcessHet=0.0000;FS=1.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-3.640e-01;SOR=0.815	GT:AD:DP:GQ:PL	0/1:124,118:242:99:3123,0,2944	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	0/3:35,0,0,18,0:54:99:538,633,2153,633,2153,2153,0,1431,1431,1351,633,2153,2153,1431,2153	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	0/3:35,0,0,18,0:54:99:538,633,2153,633,2153,2153,0,1431,1431,1351,633,2153,2153,1431,2153	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	0/3:35,0,0,18,0:54:99:538,633,2153,633,2153,2153,0,1431,1431,1351,633,2153,2153,1431,2153	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	0/3:35,0,0,18,0:54:99:538,633,2153,633,2153,2153,0,1431,1431,1351,633,2153,2153,1431,2153	0	1	2	0
chr12	128823864	128823875	GCCGCCGCCGCG	-	exonic	SLC15A4	.	nonframeshift deletion	SLC15A4:NM_145648:exon1:c.69_80del:p.A24_A27del,	.	.	460	1054	6	0	2	8	0.00283822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878946519	0.0004	0.0003	0.0003	0.0004	0.0053	0.0003	0.0003	0.0044	0.0041	0.0012	0	0.0003	0.0015	0	0.0009	0.0002	0.0006	0.0053	0.0008	0.0008	0.0006	0.0011	0.0077	0.0007	0.0007	0.0058	0.0051	0.0011	0	0.0005	0.0003	0.0012	0	0	0.0003	0.0010	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	903.94	25	chr12	128823863	.	AGCCGCCGCCGCG	A	903.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e+00;DP=754;ExcessHet=0.0000;FS=8.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.39;ReadPosRankSum=-2.950e-01;SOR=0.053	GT:AD:DP:GQ:PL	0/1:10,23:33:99:918,0,323	20	0	1	0
chr13	19633783	19633783	C	G	exonic	MPHOSPH8	.	nonsynonymous SNV	MPHOSPH8:NM_017520:exon1:c.C35G:p.A12G,	.	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.061	B	0.014	B	0.267	N	1.000	N	0.975	L	1.01	T	-1.013	T	0.082	T	0.077	2.495	14.30	1.99	0.285	1.299	3.231	0.032	0.0212192905689	0.0012	0.000998403	0.0027	0.0009	0.0005	0	0.0045	0.0036	0.0023	0.0029	0.0013648	211	154602	rs146735121	0.0015	0.0015	0.0014	0.0016	0.0025	0.0014	0.0014	0.0022	0.0021	2.995e-05	0.0002	7.725e-05	0	0.0031	0.0013	0.0015	0.0008	0.0025	0.0012	0.0013	0.0013	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0002	0	6.533e-05	0	0	0.0027	0	0.0021	0.0009	0.0008	0.002	0.72154	D	0.023	0.57104	D	0.001	0.07471	B	0.001	0.04355	B	0.267291	0.03749	N	1.511360	1	0.08975	N	2.045	0.56016	M	1.01	0.41058	T	-0.99	0.26200	N	0.242	0.27316	-1.0129	0.26007	T	0.082	0.32353	T	10	0.00494346	0.00106	T	0.021219	0.43954	T	0.032	0.07718	.	.	0.370276754211	0.36643	0.14221635104878683	0.14144	0.312254783512	0.33525	0.498719632626	0.38649	T	0.02073	0.16269	T	-0.565944	0.00234	T	-0.588766	0.13773	T	0.0343777376467973	0.02701	T	0.466353	0.13696	T	0.16632646	0.36961	0.1998389	0.43886	0.16632646	0.36960	0.1998389	0.43885	-3.88	0.22002	T	.	.	0.097	0.15743	B	.	.	1.545946	0.19817	14.45	0.98258569866304224	0.39639	0.91085	0.52830	D	ALL	0.080626	0.16304	N	-0.826091289741176	0.12645	0.6177178	-0.852657992635454	0.13224	0.6848221	0.999999990107616	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.76	1.99	0.25423	0.871000	0.27675	0.190000	0.15733	0.524000	0.24156	0.003000	0.16062	0.000000	0.08366	0.016000	0.10718	0.1412:0.5774:0.1371:0.1443	3.231	0.06349	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1477.98	34	chr13	19633783	.	C	G	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.880e-01;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.477;SOR=0.681	GT:AD:DP:GQ:PL	0/1:86,59:145:99:1492,0,2250	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	1/2:1,21,20,0:42:99:1108,471,380,464,0,435,1046,481,493,1037	1	1	4	0
chr13	23355239	23355239	G	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon6:c.C932T:p.T311I	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	YES	0	1509	13	0	0	13	0.00428901	.	.	266622	not_specified|not_provided|Hereditary_spastic_paraplegia|Spastic_paraplegia|SACS-related_disorder|Charlevoix-Saguenay_spastic_ataxia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.56	M	2.17	T	-0.853	T	0.174	T	0.993	3.394	17.45	5.72	2.857	9.798	20.241	0.546	0.100253231566	0.0024	0.000798722	0.0025	0.0005	0.0010	0	0.0005	0.0042	0.0011	0.0004	0.0023609	365	154602	rs61729954	0.0021	0.0021	0.0021	0.0022	0.0101	0.0021	0.0020	0.0080	0.0072	0.0004	0.0019	0.0222	5.038e-05	0.0004	0.0101	0.0019	0.0037	0.0007	0.0021	0.0021	0.0024	0.0019	0.0027	0.0020	0.0019	0.0023	0.0022	0.0003	0	0.0027	0.0199	0	0.0011	0.0102	0.0027	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	0.988	0.62325	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.195	0.89043	M	2.17	0.19020	T	-3.44	0.67477	D	0.975	0.98563	-0.8532	0.51746	T	0.174	0.51722	T	10	0.009782344	0.00220	T	0.100253	0.77242	D	0.546	0.81135	.	.	0.619226046999	0.61614	0.9100570222732436	0.90979	.	.	0.656941413879	0.60972	T	0.644944	0.89155	D	-0.0457148	0.45097	T	0.157254	0.80638	D	0.0686978647633756	0.08468	T	0.927907	0.73422	D	0.596426	0.72498	0.5639624	0.74766	0.60294896	0.72850	0.54210186	0.73535	-9.713	0.72176	D	0.6874368651722385	0.76469	0.901	0.84294	P	.;.;.	.;.;.	4.070486	0.60473	24.2	0.99751892430377787	0.84305	0.98167	0.80181	D	AEFBCI	0.865809	0.78504	D	0.708044794657615	0.80161	7.233117	0.593632970121347	0.74479	6.144526	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	9.902000	0.98627	11.863000	0.98373	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.320000	0.24970	0.0:0.0:1.0:0.0	20.241	0.98374	986	0.02773	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2225.98	33	chr13	23355239	.	G	A	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e+00;DP=1100;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.290e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/1:79,82:161:99:2240,0,2231	20	0	1	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X,	.	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	.	.	.	.	.	6.871	38	0.875	0.632	6.258	5.899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	912.68	205	chr13	25097003	.	A	T	912.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.010;DP=3665;ExcessHet=0.3300;FS=0.927;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.08;MQRankSum=-1.511e+00;QD=1.34;ReadPosRankSum=-9.730e-01;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:234,21:255:99:.:.:153,0,9723	18	0	3	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:232,47,26:305:99:.:.:1309,0,9587,817,8684,10461	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|2:219,25,44:288:99:0|1:25097021_G_T:1218,765,9874,0,8176,9053:25097021	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|2:231,26,47:304:99:0|1:25097021_G_T:1373,817,10372,0,8595,9498:25097021	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	0/1:228,46,25:299:99:.:.:1340,0,9375,820,8511,10254	4	0	16	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:99,48:156:99:103,0,1870	6	0	15	0
chr13	41891502	41891502	T	C	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon5:c.A569G:p.N190S	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.999	D	0.000	D	1.000	D	3.21	M	1.55	T	-0.484	T	0.259	T	0.353	4.900	28.2	5.71	2.307	7.750	16.283	0.398	0.047364464588	.	0.000599042	0.0003	0	0.0003	0	0	2.997e-05	0.0011	0.0018	0.0002587	40	154602	rs556482884	0.0001	0.0001	7.487e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	8.944e-05	0	0	0	0.0005	3.597e-06	0.0001	0.0021	7.877e-05	7.874e-05	5.139e-05	0.0001	0.0023	4.492e-05	3.509e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.006	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.27	0.90083	M	1.55	0.29866	T	-4.32	0.76740	D	0.902	0.90251	-0.4837	0.69234	T	0.259	0.63021	T	10	0.1147556	0.21600	T	0.047364	0.62888	D	0.398	0.71242	0.462	0.53079	0.538745750885	0.53527	0.6952929199558897	0.69470	0.333611242029	0.35398	0.790353834629	0.80496	T	0.526795	0.83551	D	-0.354952	0.04424	T	-0.289425	0.45833	T	0.367520915488021	0.27702	T	0.968903	0.88767	D	0.8251901	0.85572	0.7578652	0.85692	0.8251901	0.85573	0.7578652	0.85692	-11.395	0.81780	D	.	.	0.934	0.85369	P	.;.	.;.	4.543882	0.71454	25.7	0.99904964521962714	0.97576	0.97898	0.77962	D	AEFBI	0.868963	0.78930	D	0.905888233167163	0.92044	11.20336	0.85574728734157	0.93346	11.98301	0.999999996489793	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.709000	0.83610	7.817000	0.69620	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	16.283	0.82530	833	0.38804	ATPase, dynein-related, AAA 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	1947.98	41	chr13	41891502	.	T	C	1947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1141;ExcessHet=0.0000;FS=0.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-6.880e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:83,75:158:99:1962,0,2120	20	0	1	0
chr13	42301410	42301410	A	T	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.A2664T:p.L888F,	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.091	B	0.049	B	0.021	N	0.732	D	0.715	N	2.47	T	-1.031	T	0.019	T	0.348	0.131	4.703	-0.669	0.183	0.494	0.115	0.103	.	.	0.00539137	0.0023	0.0001	0.0002	0	0	4.625e-05	0.0034	0.0158	0.0019081	295	154602	rs199621082	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0009	0.0138	0.0136	5.979e-05	0	0	2.52e-05	0	0.0019	7.195e-06	0.0010	0.0145	0.0006	0.0006	0.0003	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	0	0	0	0	0	0	0	7.35e-05	0	0.0178	0.301	0.14449	T	0.785	0.04260	T	0.091	0.25247	B	0.049	0.25116	B	0.021021	0.26919	N	0.350973	0.732049	0.33729	D	1.895	0.50365	L	2.47	0.14783	T	0.2	0.04861	N	0.051	0.02272	-1.0307	0.20227	T	0.019	0.07846	T	10	0.0027727783	0.00043	T	.	.	.	0.103	0.29403	0.235	0.16457	0.291402777868	0.28757	0.12086352208032518	0.12013	0.0497722152176	0.05457	0.316211760044	0.12847	T	0.003163	0.02566	T	-0.526997	0.00400	T	-0.516798	0.20620	T	0.0346910083638412	0.02755	T	0.756624	0.37993	T	0.01710834	0.00246	0.033184696	0.02172	0.01710834	0.00246	0.033184696	0.02171	-4.201	0.26766	T	.	.	0.110	0.21049	B	.	.	1.441305	0.18608	13.83	0.85628853784087855	0.16012	0.67031	0.33286	D	AEFBCI	0.059995	0.11371	N	-0.529939406665623	0.21117	1.118328	-0.42128112044834	0.24373	1.334344	0.987886489360601	0.31363	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	6.03	-0.669	0.10815	0.491000	0.22128	1.314000	0.25557	0.756000	0.94297	0.997000	0.40164	0.998000	0.33993	0.972000	0.54974	0.3345:0.2004:0.2288:0.2363	0.115	0.00055	680	0.59965	.	.	.	.	.	.	Likely benign	0	0	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	1969.98	35	chr13	42301410	.	A	T	1969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=1226;ExcessHet=0.0000;FS=4.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-2.430e+00;SOR=0.634	GT:AD:DP:GQ:PL	0/1:101,74:175:99:1984,0,2964	20	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,35:153:99:.:.:165,0,2901	0	0	20	1
chr13	42303615	42303615	T	G	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.T4869G:p.F1623L,	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.837	N	1.000	N	-1.995	N	1.18	T	-0.986	T	0.017	T	0.036	-2.495	0.003	-2.79	-0.767	-1.372	6.704	0.019	.	.	0.00539137	0.0022	9.686e-05	0.0002	0	0	4.497e-05	0.0033	0.0157	0.0019081	295	154602	rs201849831	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0009	0.0138	0.0136	5.974e-05	0	0	2.519e-05	0	0.0019	7.194e-06	0.0010	0.0145	0.0006	0.0006	0.0003	0.0009	0.0178	0.0005	0.0005	0.0148	0.0136	0	0	0	0	0	0	0	7.351e-05	0	0.0178	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.836796	0.06975	N	1.077080	1	0.08975	N	-0.055	0.04927	N	1.18	0.37746	T	0.1	0.05810	N	0.012	0.00125	-0.9862	0.33542	T	0.017	0.06902	T	10	0.0024484992	0.00037	T	.	.	.	0.019	0.03383	0.222	0.14518	0.182106788282	0.17826	0.14169314813642236	0.14092	0.0489801297359	0.05355	0.291328310966	0.09116	T	0.001013	0.00548	T	-0.701291	0.00036	T	-0.766507	0.02885	T	0.0109433745280605	0.00157	T	0.505449	0.15971	T	0.027550237	0.01962	0.04011886	0.04263	0.027550237	0.01961	0.04011886	0.04263	-2.257	0.04326	T	.	.	0.408	0.60046	A	.	.	-1.470764	0.00313	0.005	0.17561501460575724	0.00517	0.14078	0.18210	N	AEFGBCI	0.047085	0.07891	N	-1.7853795833346	0.00582	0.02506885	-1.69766425710306	0.01148	0.05162225	0.999976252655354	0.50053	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	-2.79	0.05494	-1.125000	0.03368	-0.931000	0.06883	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.110000	0.18741	0.0:0.3456:0.244:0.4103	6.704	0.22427	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2116.98	33	chr13	42303615	.	T	G	2116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=925;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.37;SOR=0.795	GT:AD:DP:GQ:PL	0/1:71,80:151:99:2131,0,1810	20	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	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	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:99,47:146:99:160,0,1572	10	0	11	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	0/1:88,42:135:99:148,0,1366	5	0	15	1
chr13	71866535	71866535	-	GCCGCC	exonic	DACH1	.	nonframeshift insertion	DACH1:NM_001366712:exon1:c.234_235insGGCGGC:p.G81_S82insGG	.	.	6	167	15	3	35	56	0.0591549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3245.31	39	chr13	71866526	.	TGCCGCCGCC	T,TGCCGCCGCCGCCGCC	3245.31	.	AC=2,5;AF=0.048,0.119;AN=42;BaseQRankSum=0.433;DP=629;ExcessHet=0.2785;FS=2.709;InbreedingCoeff=0.1429;MLEAC=2,5;MLEAF=0.048,0.119;MQ=60.00;MQRankSum=0.00;QD=18.65;ReadPosRankSum=0.142;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,19:19:57:.:.:849,849,849,57,57,0	15	0	2	0
chr13	79337172	79337172	T	C	exonic	RBM26	.	nonsynonymous SNV	RBM26:NM_001286632:exon18:c.A2591G:p.H864R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	D	0.977	D	0.000	D	1.000	D	0.975	L	0.91	T	-0.907	T	0.171	T	0.834	4.570	24.8	4.89	1.948	7.651	14.794	0.421	0.0425204934848	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1031952341	3.42e-06	3.42e-06	2.722e-06	4.125e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.49117	T	0.386	0.32040	T	0.902	0.49745	P	0.677	0.53365	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.605	0.40863	L	0.9	0.46028	T	-4.78	0.80510	D	0.849	0.91621	-0.9070	0.47215	T	0.171	0.51165	T	9	0.65525126	0.69836	D	0.04252	0.60504	D	0.421	0.73005	0.564	0.68499	0.769794169845	0.76768	0.5742796791888795	0.57356	1.39510571996	0.85073	0.844747304916	0.88818	D	0.091797	0.63653	T	0.139107	0.68241	D	-0.0224729	0.68866	D	0.971723794937134	0.69426	D	0.977502	0.99425	D	0.4517118	0.64149	0.38821518	0.63670	0.4517118	0.64150	0.38821518	0.63670	-8.66	0.65484	D	.	.	0.349	0.71484	A	.;.;.;.;.	.;.;.;.;.	4.482160	0.69940	25.4	0.99790166288063198	0.87572	0.98625	0.84843	D	AEFDBI	0.897506	0.83976	D	0.456453024517233	0.64569	4.714573	0.502891434897935	0.68187	5.185252	0.999999999317712	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	7.604000	0.82059	7.854000	0.71106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.794	0.69493	777	0.48198	RBM26-like, RNA recognition motif 2;.;RBM26-like, RNA recognition motif 2;.;RBM26-like, RNA recognition motif 2	.	.	.	.	.	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	2515.98	39	chr13	79337172	.	T	C	2515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.586;DP=911;ExcessHet=0.0000;FS=1.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.101e+00;SOR=0.829	GT:AD:DP:GQ:PL	0/1:95,104:199:99:2530,0,2281	20	0	1	0
chr13	99982727	99982727	G	A	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.G663A:p.M221I,	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.949	P	0.921	D	0.000	D	1.000	D	2.095	M	0.99	T	-0.797	T	0.210	T	0.526	2.507	14.34	3.73	1.275	7.555	14.014	0.249	0.0159184047108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.84e-07	0	1.386e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.076	0.42614	T	0.949	0.53761	P	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.645	0.77386	M	0.99	0.41750	T	-0.79	0.21860	N	0.618	0.63374	-0.7967	0.55338	T	0.210	0.57041	T	10	0.57804793	0.65692	D	0.015918	0.36914	T	0.249	0.55752	0.404	0.43573	0.83317459961	0.83158	0.3345802821426066	0.33371	.	.	0.727138459682	0.71088	T	0.196354	0.55270	T	-0.028008	0.47707	T	-0.278008	0.47008	T	0.948795557022095	0.62972	D	0.922708	0.71908	D	0.39119276	0.60117	0.36198837	0.61613	0.39119276	0.60117	0.36198837	0.61612	-6.914	0.53403	T	.	.	0.743	0.74756	P	.	.	5.261154	0.88341	29.6	0.98257091433298727	0.39630	0.96662	0.70275	D	AEFDGBHCI	0.905015	0.85602	D	0.382278794840422	0.60462	4.235318	0.351322377151365	0.58589	4.03016	0.999999999966364	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.73	0.41982	9.937000	0.98857	11.686000	0.94288	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8473:0.1527	14.014	0.64028	602	0.67834	.	.	.	.	.	.	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	123.1	36	chr13	99982727	.	G	A	123.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.533e+00;DP=1408;ExcessHet=0.0000;FS=321.761;InbreedingCoeff=-0.0318;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=0.95;ReadPosRankSum=0.618;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,27:135:99:.:.:137,0,2744	20	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	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	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:156,46:219:49:49,0,3732	6	0	10	5
chr13	102747411	102747411	G	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C3286A:p.P1096T,	.	.	437	1030	54	1	0	56	0.026465	.	.	2814000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00119808	0.0067	0.0010	0.0049	0	0.0294	0.0077	0.0161	0.0075	0.0017982	278	154602	rs143261898	0.0064	0.0061	0.0063	0.0065	0.0172	0.0063	0.0062	0.0145	0.0135	0.0011	0.0044	0.0057	2.801e-05	0.0049	0.0172	0.0069	0.0068	0.0057	0.0046	0.0046	0.0045	0.0046	0.0069	0.0043	0.0042	0.0063	0.0061	0.0013	0.0022	0.0040	0.0049	0.0006	0.0055	0.0170	0.0069	0.0071	0.0033	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.08925	.	.	.	.	.	.	.	0.0028288662	0.00045	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.03888631661266264	0.03834	.	.	0.26743721962	0.05809	T	.	.	.	-0.488708	0.00660	T	-0.467949	0.25737	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41480	B	.	.	0.562261	0.09308	6.089	0.7472471519397319	0.10803	0.03453	0.08599	N	AEFBI	.	.	.	.	.	.	.	.	.	0.98821201155232	0.31445	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.111679	0.23776	4.56	-4.59	0.03158	-0.246000	0.08896	-1.417000	0.05489	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.226:0.1078:0.1881:0.4781	1.570	0.02455	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1645.98	107	chr13	102747411	.	G	T	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.077e+00;DP=2064;ExcessHet=0.0000;FS=2.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.079e+00;SOR=0.937	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1660,0,1747	20	0	1	0
chr13	112547532	112547547	ACGTGCATGGGAAAGT	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	22922.08	213	chr13	112547532	.	ACGTGCATGGGAAAGT	A,*	22922.08	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=0.389;DP=2588;ExcessHet=2.5830;FS=1.106;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=59.97;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.139;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,107,0:251:99:0|1:112547505_C_T:3902,0,5589,4335,5911,10246:112547505	14	0	6	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:144,0,0,0,107,0:251:99:0|1:112547505_C_T:3902,4335,10246,4335,10246,10246,4335,10246,10246,10246,0,5911,5911,5911,5589,4335,10246,10246,10246,5911,10246:112547505	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:144,0,0,0,107,0:251:99:0|1:112547505_C_T:3902,4335,10246,4335,10246,10246,4335,10246,10246,10246,0,5911,5911,5911,5589,4335,10246,10246,10246,5911,10246:112547505	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:144,0,0,0,107,0:251:99:0|1:112547505_C_T:3902,4335,10246,4335,10246,10246,4335,10246,10246,10246,0,5911,5911,5911,5589,4335,10246,10246,10246,5911,10246:112547505	7	0	5	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	24873.61	185	chr13	112547565	.	C	T,*	24873.61	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.983;DP=2360;ExcessHet=3.5521;FS=1.103;InbreedingCoeff=-0.2353;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.97;MQRankSum=0.00;QD=16.56;ReadPosRankSum=-7.970e-01;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,95,0:216:99:0|1:112547505_C_T:3377,0,4713,3741,4999,8740:112547505	13	0	7	0
chr13	113403419	113403419	T	C	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.A4771G:p.M1591V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943395448	5.464e-05	4.173e-05	4.386e-05	6.67e-05	0.0007	4.302e-05	3.939e-05	0.0001	5.063e-05	0	0	0	0	0	0.0007	6.087e-05	2.29e-05	0	0.0001	0.0001	6.425e-05	0.0001	0.0002	6.514e-05	5.325e-05	0.0001	7.895e-05	7.244e-05	0	0	0	0	0	0	0.0002	0	0.0002	.	.	.	0.648	0.06788	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	0.059140295	0.07063	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013825	0.11884	T	.	.	.	.	.	.	.	.	.	0.329367	0.06881	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24867	B	.	.	0.114447	0.05132	1.658	0.70801480900319447	0.09415	0.04109	0.09580	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987569017368	0.51787	0.055982	0.00716	0	0.063388	0.01293	0	0.072005	0.02045	0	0.062806	0.01542	0	0.0985205	0.21973	5.09	1.03	0.19161	-0.390000	0.07392	-2.140000	0.04154	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.0:0.1708:0.3058:0.5234	4.726	0.12321	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	470.98	44	chr13	113403419	.	T	C	470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=1139;ExcessHet=0.0000;FS=3.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=0.175;SOR=1.321	GT:AD:DP:GQ:PL	0/1:35,20:55:99:485,0,865	20	0	1	0
chr14	19713189	19713189	A	G	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T728C:p.M243T,	.	.	489	1017	14	0	2	16	0.00683594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0033	0.0103	0	0.0015	0.0006	0.0028	0.0011	3.84e-05	1	26028	rs1590546	0.0004	0.0011	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0017	0.0023	0.0021	3.833e-05	0.0006	7.526e-05	0.0029	0.0002	0.0007	0.0014	0.0010	0.0017	0.0009	0.0011	0.0026	0.0009	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0006	0.0004	0	0.0003	0	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.595	0.40691	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012151003	0.00262	T	.	.	.	.	.	.	.	0.166414681773	0.16258	0.09044129637984567	0.08977	.	.	0.24798822403	0.03559	T	0.011333	0.10128	T	0.0643397	0.60154	T	-0.145357	0.59653	T	.	.	.	0.40306	0.10319	T	0.25926927	0.48979	0.3451211	0.60199	0.25926927	0.48979	0.3451211	0.60199	-6.908	0.53358	T	.	.	0.275	0.50880	B	.;.	.;.	1.734153	0.22072	15.47	0.4422263449447929	0.03384	0.03438	0.08576	N	AEFI	.	.	.	.	.	.	.	.	.	4.60436804700089E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443002	0.02987	1.26	1.26	0.20534	0.639000	0.24378	6.816000	0.56659	0.519000	0.23678	0.000000	0.06391	0.835000	0.27248	0.001000	0.02609	1.0:0.0:0.0:0.0	6.762	0.22733	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2381.82	33	chr14	19713189	.	A	G	2381.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-2.683e+00;DP=1582;ExcessHet=0.1128;FS=1.318;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.050;MQ=36.54;MQRankSum=1.46;QD=6.12;ReadPosRankSum=-1.570e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:89,80:169:99:1917,0,2398	18	0	2	1
chr14	19713214	19713214	G	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.C703A:p.L235I,	.	.	490	1002	29	0	1	30	0.0142646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0043	0.0183	0.0016	0.0007	0.0061	0.0021	0.0055	0.0079	0.0005379	14	26028	rs11625510	0.0006	0.0020	0.0005	0.0007	0.0081	0.0006	0.0006	0.0073	0.0070	0.0081	0.0014	7.672e-05	0.0001	0.0001	0.0024	0.0002	0.0012	0.0037	0.0035	0.0071	0.0034	0.0036	0.0100	0.0033	0.0032	0.0091	0.0088	0.0100	0	0.0041	0.0003	0.0010	0.0007	0	0.0003	0.0041	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	0.63811	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014848262	0.00312	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.038699843034994984	0.03815	.	.	0.206101313233	0.00656	T	0.017617	0.14339	T	-0.365507	0.03828	T	-0.291687	0.45596	T	.	.	.	0.435056	0.11905	T	0.043666393	0.06845	0.06603164	0.13469	0.043666393	0.06844	0.06603164	0.13468	-7.403	0.56926	T	.	.	0.106	0.19639	B	.;.	.;.	1.839262	0.23369	15.99	0.48104264887094	0.03987	0.02495	0.06976	N	AEFI	.	.	.	.	.	.	.	.	.	1.96441500582416E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0629501	0.15071	1.26	1.26	0.20534	-0.278000	0.08523	-5.907000	0.01557	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.245:0.0:0.755:0.0	3.672	0.07814	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.075	4358.77	33	chr14	19713214	.	G	T	4358.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.674e+00;DP=1966;ExcessHet=0.3476;FS=4.030;InbreedingCoeff=-0.0811;MLEAC=3;MLEAF=0.075;MQ=37.58;MQRankSum=-1.061e+00;QD=7.05;ReadPosRankSum=-1.705e+00;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,71:193:99:.:.:2520,0,3228	17	0	3	1
chr14	19713218	19713218	A	C	exonic	OR11H2	.	stopgain	OR11H2:NM_001197287:exon2:c.T699G:p.Y233X,	.	.	494	1010	18	0	0	18	0.00883219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0032	0.0084	0.0016	0.0007	0.0060	0.0015	0.0053	0.0077	0.0005379	14	26028	rs527586639	0.0005	0.0016	0.0004	0.0006	0.0057	0.0005	0.0005	0.0050	0.0048	0.0057	0.0006	3.838e-05	5.045e-05	0.0002	0.0020	0.0001	0.0008	0.0035	0.0020	0.0035	0.0019	0.0022	0.0062	0.0019	0.0018	0.0056	0.0053	0.0062	0	0.0005	0	0	0.0006	0	0.0002	0.0030	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.262912	0.12561	T	-0.615431	0.11547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.543909	0.71454	25.7	0.40378863356225114	0.02846	0.20109	0.20918	N	AEFI	.	.	.	.	.	.	.	.	.	5.45440546672236E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.12258	0.24918	1.26	-0.132	0.12831	-1.589000	0.02208	-6.001000	0.01527	-0.658000	0.04364	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.8017:0.0:0.1983:0.0	4.878	0.13025	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.05263	3448.55	33	chr14	19713218	.	A	C	3448.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=8.59;DP=1976;ExcessHet=0.1128;FS=5.985;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.053;MQ=37.89;MQRankSum=0.019;QD=6.92;ReadPosRankSum=1.30;SOR=1.010	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,65:196:99:.:.:1690,0,5113	17	0	2	2
chr14	20458571	20458571	C	G	exonic	PIP4P1	.	nonsynonymous SNV	PIP4P1:NM_001100814:exon7:c.G843C:p.Q281H	.	.	.	.	.	.	.	.	.	.	.	3368802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.011	B	0.005	B	0.000	D	0.980	D	-0.55	N	.	.	-1.014	T	0.054	T	0.274	-1.013	0.241	5.0	2.600	1.298	10.754	0.072	0.00232770779607	0.0003	.	0.0003	0	0	0	0	0.0005	0	0	0.0002329	36	154602	rs202232774	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	0.0001	2.987e-05	4.476e-05	0.0041	0	0	0.0005	0.0001	0.0005	0	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	8.878e-05	0	0	0	0.0029	0	0	0	0.0002	0.0019	0	1.0	0.02234	T	0.704	0.05642	T	0.006	0.15914	B	0.002	0.11217	B	0.000009	0.62929	D	0.066743	0.980435	0.39666	D	.	.	.	.	.	.	0.54	0.02764	N	0.18	0.19459	-1.0142	0.25593	T	0.054	0.22731	T	9	0.0061178207	0.00138	T	0.002328	0.04507	T	0.072	0.21020	0.261	0.20473	0.043077524339	0.03247	0.5811444572426319	0.58043	0.544487186864	0.51500	0.657041370869	0.60986	T	0.034155	0.23210	T	-0.306746	0.08038	T	-0.380836	0.35624	T	0.0209023107525429	0.00791	T	0.706929	0.31753	T	0.106727436	0.25235	0.09240682	0.21777	0.106727436	0.25235	0.09240682	0.21776	-1.192	0.01470	T	.	.	0.211	0.43909	B	.;.	.;.	2.965697	0.39511	21.0	0.83371416973034751	0.14689	0.74506	0.36449	D	AEFBCI	0.149521	0.27363	N	-0.464872144661371	0.23239	1.24652	-0.194306873094045	0.31745	1.799448	0.999999921221322	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.0	5.0	0.66209	1.756000	0.38018	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9118:0.0:0.0882	10.754	0.45425	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1015.98	33	chr14	20458571	.	C	G	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=801;ExcessHet=0.0000;FS=0.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.783e+00;SOR=0.814	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1030,0,1246	20	0	1	0
chr14	21368292	21368292	T	A	exonic	SUPT16H	.	nonsynonymous SNV	SUPT16H:NM_007192:exon7:c.A932T:p.E311V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.178	B	0.137	B	0.000	D	1.000	D	1.72	L	-1.21	T	-0.522	T	0.366	T	0.682	2.543	14.46	5.56	2.241	5.791	14.980	0.465	0.059150294012	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422556670	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.07720	T	0.658	0.06554	T	0.178	0.28960	B	0.137	0.33328	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-1.21	0.78645	T	-2.44	0.53420	N	0.328	0.36884	-0.5220	0.67840	T	0.366	0.72674	T	10	0.25267506	0.42625	T	0.05915	0.67566	D	0.465	0.76089	0.472	0.54699	0.351146185902	0.34720	0.8334246031594114	0.83301	1.21975213468	0.81049	0.687189280987	0.65302	T	0.220364	0.58363	T	0.14082	0.68402	D	-0.0354989	0.68003	D	0.347738951444626	0.26930	T	0.838216	0.51127	T	0.4201238	0.62100	0.20593607	0.44785	0.4201238	0.62100	0.20593607	0.44784	-6.874	0.53107	T	.	.	0.109	0.20819	B	.	.	3.960085	0.58072	23.9	0.97466856990786643	0.34115	0.97488	0.75073	D	AEFDBI	0.629475	0.61117	D	0.103390908250581	0.46621	2.899645	0.262543871867769	0.53367	3.505938	0.999999199905492	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	5.773000	0.68552	7.725000	0.67498	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.980	0.70960	940	0.13648	Peptidase M24|FACT complex subunit SPT16	.	.	.	.	.	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	1211.98	34	chr14	21368292	.	T	A	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.138e+00;DP=776;ExcessHet=0.0000;FS=1.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.64;ReadPosRankSum=0.058;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,31:56:99:0|1:21368292_T_A:1226,0,956:21368292	20	0	1	0
chr14	21368293	21368293	C	A	exonic	SUPT16H	.	stopgain	SUPT16H:NM_007192:exon7:c.G931T:p.E311X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	7.983	40	5.56	2.778	5.515	18.651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162114539	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.89	0.88909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant	High	9.317756	0.98766	40	0.99747762797392747	0.84002	0.97302	0.73898	D	AEFDBI	0.058435	0.10964	N	1.07270216490474	0.97595	16.40444	0.942780039646269	0.97181	15.71379	0.999888413327463	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	5.584000	0.67185	7.512000	0.59634	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.651	0.91388	940	0.13648	Peptidase M24|FACT complex subunit SPT16	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1211.98	34	chr14	21368293	.	C	A	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=778;ExcessHet=0.0000;FS=1.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.64;ReadPosRankSum=0.206;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,31:56:99:0|1:21368292_T_A:1226,0,956:21368292	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,29:120:8:.:.:8,0,2470	4	0	11	6
chr14	31122952	31122952	C	G	exonic	HECTD1	.	nonsynonymous SNV	HECTD1:NM_015382:exon27:c.G5077C:p.D1693H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.99	D	0.000	U	1.000	D	0.695	N	0.98	T	-0.883	T	0.196	T	0.743	4.862	27.8	5.44	2.567	7.765	19.263	0.347	0.0316980073351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.934e-05	0.0001	2.063e-05	1.803e-05	3.49e-05	1.341e-05	1.154e-05	1.393e-05	1.163e-05	3.011e-05	0	0	0	0	0	2.092e-05	1.669e-05	3.49e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.58626	D	0.002	0.79402	D	.	.	.	.	.	.	0.000418	0.44736	U	0.139995	1	0.81001	D	.	.	.	0.98	0.51714	T	-4.18	0.79316	D	0.744	0.81063	-0.8830	0.49521	T	0.196	0.55056	T	10	0.5129209	0.62201	D	0.031698	0.53716	D	0.393	0.70844	0.231	0.15855	0.626327245455	0.62328	0.3888103266673907	0.38796	1.60696827796	0.88818	0.917501449585	0.98127	D	0.125463	0.45119	T	0.113686	0.65732	D	-0.0744746	0.65305	T	0.993387579917908	0.84163	D	0.939306	0.77145	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.86720	P	.;.;.;.	.;.;.;.	5.354639	0.89813	31	0.99573649763884109	0.72561	0.99034	0.90260	D	AEFDGBI	0.895527	0.83563	D	0.343005611180877	0.58371	4.008926	0.466956206363015	0.65813	4.87146	1.0	0.98316	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.886000	0.85793	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.263	0.93965	592	0.68746	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	207.78	53	chr14	31122952	.	C	G	207.78	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.709e+00;DP=1510;ExcessHet=0.0000;FS=139.677;InbreedingCoeff=-0.2990;MLEAC=3;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=2.06;ReadPosRankSum=0.518;SOR=6.993	GT:AD:DP:GQ:PL	0/1:69,32:101:99:209,0,1143	3	0	1	17
chr14	37622326	37622326	G	A	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon3:c.G310A:p.A104T,	.	.	416	1097	7	2	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	N	.	.	0.55	N	-0.7	T	-0.808	T	0.219	T	0.117	4.405	23.3	3.62	1.011	0.713	8.865	0.069	0.215393103698	.	.	0.0014	0	0.0096	0	.	0.0043	0	0.0003	0.0002393	37	154602	rs748642355	0.0007	0.0007	0.0008	0.0007	0.0225	0.0007	0.0007	0.0193	0.0181	0.0003	0.0008	0.0033	0	0.0002	0.0225	0.0006	0.0015	0.0004	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0008	0.0008	0.0002	0	0.0008	0.0032	0	9.429e-05	0.0479	0.0010	0.0028	0.0002	0.361	0.11882	T	0.342	0.17910	T	.	.	.	.	.	.	0.721412	0.06316	N	1.183550	.	.	.	.	.	.	-0.7	0.72785	T	-1.07	0.27876	N	0.129	0.12341	-0.8078	0.54683	T	0.219	0.58214	T	6	0.004866183	0.00104	T	0.215393	0.87506	D	0.069	0.20116	0.339	0.32979	0.527759996296	0.52422	.	.	0.0339664126179	0.03563	.	.	.	0.014476	0.12316	T	-0.449685	0.01134	T	-0.454096	0.27244	T	0.0599981270768644	0.07169	T	0.451655	0.12799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14888	B	.	.	1.120000	0.15057	11.55	0.99547085722781181	0.70898	0.15720	0.19049	N	AEFDBHCIJ	.	.	.	-0.479049624249753	0.22769	1.218073	-0.524462704612144	0.21490	1.162756	0.999999639181731	0.74766	0.443343	0.08805	1	0.573888	0.26702	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.51	3.62	0.40616	0.737000	0.25812	0.170000	0.15507	0.526000	0.24426	0.001000	0.13787	0.000000	0.08366	0.032000	0.13371	0.107:0.0:0.893:0.0	8.865	0.34436	682	0.59757	.	.	.	.	.	.	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	3161.11	33	chr14	37622326	.	G	A	3161.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=901;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-2.300e-02;SOR=0.691	GT:AD:DP:GQ:PL	0/1:54,68:122:99:1814,0,1360	19	0	2	0
chr14	37807426	37807426	A	G	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon25:c.A4469G:p.Y1490C,	.	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.995	D	0.001	D	0.964	D	.	.	-0.04	T	-0.213	T	0.385	T	0.34	2.938	15.79	1.52	0.924	1.609	10.194	0.322	0.0858349618772	.	0.000199681	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs74824955	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	3.171e-05	2.803e-05	0	2.803e-05	0	0	0.0002	0.0001	0.0001	6.567e-05	6.562e-05	0.0001	2.685e-05	0.0001	3.515e-05	2.615e-05	5.843e-05	4.24e-05	4.813e-05	0	0	0	0	0	0	0.0001	0	0	0.014	0.53900	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000808	0.41658	D	0.162786	.	.	.	.	.	.	-0.04	0.68329	T	-4.4	0.77308	D	0.797	0.81559	-0.2126	0.77346	T	0.385	0.74061	T	8	0.7285713	0.74141	D	0.085835	0.74615	D	0.322	0.64420	.	.	0.616691646379	0.61359	.	.	0.263017185051	0.28861	0.598864257336	0.52744	T	0.149218	0.49994	T	-0.219289	0.18091	T	-0.304461	0.44251	T	0.817053496837616	0.47555	D	0.881612	0.60121	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.44227	B	.;.	.;.	3.929972	0.57431	23.9	0.99738496511908237	0.83337	0.69826	0.34342	D	AEFI	0.309179	0.41555	N	0.245258392384438	0.53404	3.509464	0.182820454420145	0.48905	3.100	0.0733720325062711	0.15632	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	1.52	0.22158	1.549000	0.35819	2.994000	0.35893	0.750000	0.87069	0.895000	0.31310	0.977000	0.30130	0.962000	0.52141	0.6512:0.0:0.0:0.3488	10.194	0.42219	594	0.68584	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1368.98	36	chr14	37807426	.	A	G	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.629;DP=785;ExcessHet=0.0000;FS=1.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=1.19;SOR=1.003	GT:AD:DP:GQ:PL	0/1:32,55:87:99:1383,0,675	20	0	1	0
chr14	44506633	44506633	G	A	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.C355T:p.P119S,	.	.	416	1105	1	0	0	1	0.000452284	.	.	725667	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.42	B	0.09	B	.	.	1.000	N	1.67	L	1.98	T	-1.030	T	0.022	T	0.089	-0.945	0.350	-5.27	-1.001	-0.605	0.921	0.029	0.00268792966622	0.0025	0.00279553	0.0008	0.0063	0.0010	0	0	0.0003	0.0022	6.058e-05	0.0008473	131	154602	rs36083807	0.0006	0.0006	0.0006	0.0005	0.0099	0.0005	0.0005	0.0081	0.0078	0.0089	0.0014	0	0	3.745e-05	0.0099	0.0003	0.0010	0.0001	0.0024	0.0024	0.0025	0.0023	0.0077	0.0022	0.0021	0.0070	0.0067	0.0077	0	0.0016	0	0	9.432e-05	0.0102	0.0002	0.0028	0.0002	0.33	0.13131	T	0.764	0.04571	T	0.42	0.35330	B	0.09	0.29851	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	1.98	0.21865	T	-2.04	0.46842	N	0.053	0.02462	-1.0303	0.20357	T	0.022	0.09193	T	9	0.005158633	0.00112	T	0.002688	0.05521	T	0.029	0.06676	.	.	0.0611884634855	0.05136	0.00455728974804598	0.00428	0.0191861543644	0.01871	0.227748081088	0.01805	T	0.001705	0.01130	T	-0.674705	0.00052	T	-0.737238	0.04007	T	0.0072205042715858	0.00083	T	0.452355	0.12822	T	0.021271452	0.00721	0.05503372	0.09579	0.021271452	0.00720	0.05503372	0.09578	-2.673	0.07079	T	.	.	0.098	0.16143	B	.	.	-0.412915	0.02164	0.211	0.54308518838639153	0.05112	0.00595	0.02663	N	AEFI	0.025567	0.01771	N	-0.971919231968571	0.09207	0.4348007	-1.13395775049252	0.07059	0.3419916	5.03892418096173E-4	0.07176	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.99	-5.27	0.02551	-0.579000	0.05927	-0.495000	0.08836	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3808:0.1017:0.2304:0.2871	0.921	0.01232	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	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	3282.98	44	chr14	44506633	.	G	A	3282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.074e+00;DP=1211;ExcessHet=0.0000;FS=0.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=0.109;SOR=0.752	GT:AD:DP:GQ:PL	0/1:100,122:222:99:3297,0,2549	20	0	1	0
chr14	52028763	52028763	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon11:c.G2489A:p.R830Q,	.	.	427	1043	45	7	0	59	0.0275058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.987	D	0.4	B	0.075	N	0.990	N	0.585	N	-2.2	D	-0.767	T	0.156	T	0.266	1.583	11.25	3.84	1.454	-0.172	2.629	0.182	.	0.0112	0.0177716	0.0084	0.0187	0.0060	0.0216	0.0006	0.0045	0.0066	0.0158	0.0079947	1236	154602	rs7144523	0.0056	0.0056	0.0051	0.0060	0.0454	0.0055	0.0054	0.0409	0.0392	0.0171	0.0063	0.0249	0.0349	0.0015	0.0454	0.0026	0.0090	0.0169	0.0090	0.0090	0.0086	0.0094	0.0306	0.0086	0.0084	0.0268	0.0253	0.0163	0	0.0073	0.0210	0.0306	0.0012	0.0374	0.0033	0.0113	0.0153	0.617	0.05357	T	0.72	0.06147	T	0.032	0.20242	B	0.008	0.13708	B	0.075333	0.21230	N	0.558460	0.995152	0.24245	N	0.4	0.12274	N	-2.2	0.86888	D	0.23	0.04613	N	0.125	0.11769	-0.7669	0.57027	T	0.156	0.48772	T	10	0.0041407347	0.00082	T	.	.	.	0.182	0.45420	.	.	0.629173233237	0.62614	0.2754759937405691	0.27460	0.106631379712	0.12050	0.237848654389	0.02599	T	0.117612	0.43781	T	-0.398745	0.02360	T	-0.306817	0.44000	T	0.00933876780114129	0.00119	T	0.876412	0.60266	D	0.06400333	0.13534	0.036218125	0.03024	0.06400333	0.13534	0.036218125	0.03024	-2.335	0.04750	T	.	.	0.083	0.09191	B	.;.	.;.	2.030002	0.25802	16.89	0.98198910300172382	0.39105	0.04564	0.10207	N	AEFBI	0.053034	0.09519	N	-0.435810968365076	0.24223	1.306472	-0.325364618916186	0.27281	1.512757	0.999937259810121	0.46732	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.94	3.84	0.43422	-0.460000	0.06797	-1.340000	0.05675	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.898000	0.43474	0.1766:0.3843:0.3298:0.1093	2.629	0.04639	899	0.25060	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4298.08	39	chr14	52028763	.	C	T	4298.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.09;DP=943;ExcessHet=0.0000;FS=3.070;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=29.44;ReadPosRankSum=1.03;SOR=0.289	GT:AD:DP:GQ:PL	1/1:1,145:146:99:4326,428,0	20	1	0	0
chr14	52432318	52432318	A	C	exonic	TXNDC16	.	nonsynonymous SNV	TXNDC16:NM_001160047:exon21:c.T2449G:p.S817A	.	.	601	908	9	4	0	17	0.00927441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.010	N	1.000	N	0	N	2.27	T	-0.991	T	0.023	T	0.243	0.694	7.705	-0.147	0.023	1.128	1.840	0.054	.	0.0002	0.00399361	0.0025	9.694e-05	0.0002	0	0	0.0002	0	0.0188	0.0021216	328	154602	rs144886303	0.0012	0.0012	0.0007	0.0017	0.0162	0.0012	0.0011	0.0155	0.0152	0.0001	0.0002	0.0015	0	0	0.0019	0.0002	0.0012	0.0162	0.0007	0.0007	0.0004	0.0010	0.0176	0.0006	0.0005	0.0146	0.0135	2.405e-05	0	0	0.0017	0.0002	0	0.0034	0.0001	0.0005	0.0176	0.0	0.91255	D	0.525	0.10281	T	0.0	0.02946	B	0.001	0.04355	B	0.009551	0.01245	N	2.963580	1	0.08975	N	1.1	0.28011	L	2.27	0.17431	T	0.43	0.03297	N	0.085	0.06190	-0.9910	0.32347	T	0.023	0.09604	T	10	0.0028789937	0.00046	T	.	.	.	0.054	0.15330	.	.	0.236890367714	0.23314	0.02832776152688603	0.02782	0.0191806811106	0.01871	0.323685586452	0.13979	T	6.69E-4	0.00291	T	-0.561185	0.00250	T	-0.565906	0.15826	T	0.0353943228985161	0.02875	T	0.112489	0.00851	T	0.1431432	0.32911	0.113746524	0.27454	0.1431432	0.32910	0.113746524	0.27454	-4.315	0.28387	T	.	.	0.072	0.04277	B	.	.	0.164659	0.05545	2.006	0.64902230717678866	0.07622	0.07353	0.13374	N	AEFI	0.049833	0.08648	N	-1.00522374241208	0.08495	0.3985125	-1.00942195171716	0.09577	0.4772778	0.101633738089486	0.16386	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.07	-0.147	0.12771	0.277000	0.18496	1.455000	0.26636	0.750000	0.87069	0.020000	0.19661	0.084000	0.22431	0.051000	0.15275	0.4118:0.3341:0.0928:0.1613	1.840	0.02957	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1306.98	33	chr14	52432318	.	A	C	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.189;DP=788;ExcessHet=0.0000;FS=0.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=1.51;SOR=0.608	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1321,0,1269	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	0/1:45,24:69:99:129,0,808	0	0	21	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	0/1:102,38:140:99:.:.:388,0,1990	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	1/1:0,9,0:9:27:400,27,0,400,27,400	0	19	0	0
chr14	70523238	70523238	G	A	exonic	ADAM20	.	nonsynonymous SNV	ADAM20:NM_003814:exon2:c.C1520T:p.T507M,	.	.	.	.	.	.	.	.	.	.	.	2718596	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.076	B	0.066	B	0.524	N	1.000	N	0.075	N	1.93	T	-1.012	T	0.030	T	0.056	0.870	8.525	-0.799	-0.420	-0.538	0.572	0.021	0.00644024526204	.	.	4.121e-05	0	0	0.0001	0	5.995e-05	0	0	3.23e-05	5	154602	rs188347579	1.505e-05	1.505e-05	1.634e-05	1.375e-05	2.519e-05	9.85e-06	8.41e-06	5.31e-06	3.88e-06	0	0	0	2.519e-05	7.49e-05	0	9.893e-06	6.624e-05	2.319e-05	6.577e-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	0.065	0.36310	T	0.095	0.39492	T	.	.	.	.	.	.	0.523885	0.05218	N	1.398570	1	0.08975	N	.	.	.	1.93	0.22881	T	-0.65	0.18877	N	0.039	0.01274	-1.0115	0.26447	T	0.030	0.13023	T	10	0.03456846	0.01669	T	0.00644	0.16956	T	0.021	0.04004	.	.	0.0611884634855	0.05136	.	.	0.0324175799462	0.03388	0.25660443306	0.04494	T	.	.	.	-0.52906	0.00389	T	-0.772033	0.02702	T	0.0317734797323679	0.02270	T	0.0426957	0.00301	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.418589	0.18349	13.69	0.94175839387844207	0.24392	0.03592	0.08815	N	AEFGBI	0.081773	0.16550	N	-1.40028581316539	0.02637	0.1167065	-1.41798922295091	0.03072	0.1425964	0.0138952696341325	0.12524	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.66	-0.799	0.10351	-0.072000	0.11446	-7.317000	0.01183	-0.680000	0.04236	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.2077:0.1835:0.3018:0.307	0.572	0.00651	692	0.58729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2862.98	135	chr14	70523238	.	G	A	2862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=1169;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.18;SOR=0.775	GT:AD:DP:GQ:PL	0/1:114,108:222:99:2877,0,2796	20	0	1	0
chr14	72956443	72956443	A	T	exonic	DCAF4	.	nonsynonymous SNV	DCAF4:NM_181341:exon11:c.A1057T:p.N353Y	.	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.02	M	0.43	T	0.351	D	0.589	D	0.847	4.383	23.2	5.19	1.968	8.962	15.067	0.684	0.297178941319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.79	0.81396	M	-0.59	0.71543	T	-7.56	0.95216	D	0.925	0.96187	0.351	0.88354	D	0.589	0.85277	D	10	0.8679389	0.86046	D	0.297179	0.90761	D	0.684	0.88443	0.475	0.55182	0.914672770584	0.91381	0.4389176264366184	0.43808	0.973056639584	0.73451	0.540588796139	0.44528	T	0.186541	0.53986	T	0.317574	0.84298	D	0.218397	0.84093	D	0.998816132545471	0.95250	D	0.950705	0.83186	D	0.8630363	0.88318	0.7209419	0.83523	0.8630363	0.88319	0.7209419	0.83524	-13.022	0.90066	D	.	.	0.926	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	4.505112	0.70502	25.5	0.99447103430383521	0.65071	0.99189	0.92544	D	AEFDGBI	0.867027	0.78666	D	0.827100716683384	0.87769	9.334075	0.753500927981042	0.86417	8.882911	0.999999706749507	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.19	5.19	0.71428	8.947000	0.92735	11.152000	0.87379	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.396000	0.26692	1.0:0.0:0.0:0.0	15.067	0.71670	834	0.38640	WD40-repeat-containing domain;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	1822.98	34	chr14	72956443	.	A	T	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.044e+00;DP=829;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=0.196;SOR=0.811	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1837,0,1591	20	0	1	0
chr14	74809473	74809473	G	C	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.G4615C:p.V1539L,	.	.	431	1049	41	1	0	43	0.0200841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.428	N	0.999	N	-0.345	N	.	.	-0.982	T	0.018	T	0.088	1.343	10.41	-3.3	-0.207	-0.166	6.547	0.099	.	0.0042	0.00219649	0.0062	0.0016	0.0046	0	0.0046	0.0079	0.0114	0.0065	0.0041655	644	154602	rs139645102	0.0054	0.0054	0.0055	0.0054	0.0247	0.0053	0.0053	0.0214	0.0202	0.0014	0.0039	0.0040	2.578e-05	0.0044	0.0247	0.0058	0.0056	0.0055	0.0039	0.0039	0.0041	0.0037	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0030	0.0066	0.0002	0.0034	0.0170	0.0059	0.0066	0.0056	0.369	0.11586	T	0.685	0.13634	T	.	.	.	.	.	.	0.428077	0.12784	N	0.712848	0.999986	0.21372	N	.	.	.	.	.	.	0.12	0.05917	N	0.202	0.22357	-0.9815	0.34655	T	0.018	0.07706	T	9	0.0050153434	0.00108	T	.	.	.	0.099	0.28413	0.246	0.18139	0.043077524339	0.03247	0.3544232962056145	0.35356	0.114460003441	0.12903	0.421121537685	0.27990	T	0.002439	0.01836	T	-0.629407	0.00096	T	-0.670337	0.07586	T	0.0014493992208708	0.00015	T	0.756024	0.37907	T	0.08233242	0.18962	0.07522694	0.16541	0.08233242	0.18961	0.07522694	0.16541	-2.789	0.08082	T	.	.	0.099	0.22282	B	.;.	.;.	1.066790	0.14488	11.06	0.90336484123853977	0.19601	0.67940	0.33616	D	AEFGBI	0.145081	0.26821	N	-0.930382740093858	0.10136	0.4829762	-0.779091164806651	0.15007	0.787145	0.418820137012474	0.20274	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.3	0.04692	-0.159000	0.10043	0.795000	0.21604	0.618000	0.50648	0.781000	0.29485	0.996000	0.32793	0.997000	0.79791	0.5994:0.2743:0.1263:0.0	6.547	0.21609	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2012.98	39	chr14	74809473	.	G	C	2012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.480e-01;DP=914;ExcessHet=0.0000;FS=3.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.37;ReadPosRankSum=-9.260e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/1:63,68:131:99:2027,0,1705	20	0	1	0
chr14	75070632	75070632	A	T	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.A59T:p.N20I	.	.	433	1071	18	0	0	18	0.00833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.939	D	0.006	N	0.524	N	2.14	M	0.58	T	-0.278	T	0.289	T	0.636	2.428	14.08	4.72	1.995	2.692	10.559	0.228	0.046831026454	8.1e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs201007492	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.813e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0050	0.001	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.939	0.67449	D	0.006301	0.32122	N	0.141524	0.523725	0.31548	N	2.175	0.60977	M	0.58	0.54149	T	-7.55	0.95188	D	0.742	0.77789	-0.2784	0.75584	T	0.289	0.66055	T	10	0.006190151	0.00139	T	0.046831	0.62643	D	0.228	0.52768	.	.	0.487348339145	0.48367	0.22904105704477512	0.22819	0.588004060284	0.54360	0.515668153763	0.41017	T	0.006414	0.05843	T	-0.289295	0.09707	T	-0.188062	0.55772	T	0.216257175862433	0.21276	T	0.763424	0.38984	T	0.32686386	0.55213	0.34871656	0.60507	0.32686386	0.55213	0.34871656	0.60507	-3.538	0.16968	T	.	.	0.288	0.52010	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.203451	0.43573	21.8	0.98696521515898128	0.44838	0.86992	0.46402	D	ALL	0.392574	0.47057	N	0.411941661535108	0.62076	4.417961	0.322720731381291	0.56878	3.851863	0.99999999999863	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	3.031000	0.49417	5.045000	0.46946	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.179000	0.21265	1.0:0.0:0.0:0.0	10.559	0.44325	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	644.98	33	chr14	75070632	.	A	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.770e-01;DP=764;ExcessHet=0.0000;FS=6.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.84;ReadPosRankSum=0.954;SOR=1.532	GT:AD:DP:GQ:PL	0/1:48,25:73:99:659,0,1372	20	0	1	0
chr14	75070643	75070643	G	C	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.G70C:p.A24P	.	.	434	1070	18	0	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.893	P	0.067	N	1.000	N	1.87	L	0.41	T	-0.907	T	0.207	T	0.48	3.166	16.59	0.588	0.192	0.123	4.563	0.128	0.0148684438122	8.2e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs202071124	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.812e-05	0	0	0.0006	0	0	0	5.881e-05	0	0.0050	0.009	0.65419	D	0.04	0.57587	D	0.989	0.62824	D	0.893	0.63340	P	0.067454	0.21740	N	0.329934	0.999999	0.08975	N	2.045	0.56016	M	0.41	0.57100	T	-4.28	0.76334	D	0.477	0.57690	-0.9072	0.47191	T	0.207	0.56608	T	10	0.0027681887	0.00043	T	0.014868	0.35264	T	0.128	0.35103	.	.	0.40318662893	0.39936	0.33644218108618373	0.33557	0.559607918602	0.52497	0.327027440071	0.14486	T	0.003707	0.03111	T	-0.384259	0.02928	T	-0.324471	0.42083	T	0.127540001385723	0.15153	T	0.754325	0.37688	T	0.17973155	0.39059	0.17038666	0.39144	0.17973155	0.39059	0.17038666	0.39143	-3.372	0.15070	T	.	.	0.199	0.42170	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.758541	0.36180	20.2	0.99565120680330121	0.72014	0.14751	0.18567	N	ALL	0.186874	0.31418	N	-0.0815084460523322	0.38204	2.233989	-0.251146011460682	0.29731	1.668147	0.999999999305585	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	0.588	0.16630	0.082000	0.14697	1.568000	0.27399	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.879000	0.42020	0.3365:0.0:0.5184:0.145	4.563	0.11567	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	642.98	33	chr14	75070643	.	G	C	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.090e-01;DP=776;ExcessHet=0.0000;FS=2.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=1.53;SOR=1.073	GT:AD:DP:GQ:PL	0/1:56,26:82:99:657,0,1590	20	0	1	0
chr14	75622092	75622092	T	C	exonic	FLVCR2	.	nonsynonymous SNV	FLVCR2:NM_001195283:exon2:c.T68C:p.I23T	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.732	P	0.673	P	0.000	D	1.000	D	2.91	M	0.07	T	-0.264	T	0.370	T	0.723	3.699	18.79	5.86	2.241	7.243	15.228	0.361	0.0530892043146	0.0002	.	7.413e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs201694155	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.987e-05	2.236e-05	0	0	0	0	0.0003	0.0004	2.319e-05	5.915e-05	6.567e-05	5.139e-05	6.728e-05	8.819e-05	3.078e-05	2.211e-05	3.761e-05	2.575e-05	4.827e-05	0	0	0	0	0	0	8.819e-05	0.0005	0	0.003	0.68238	D	0.004	0.74150	D	0.562	0.38380	P	0.598	0.50679	P	0.000299	0.46274	D	0.187356	0.999458	0.81001	D	2.095	0.58118	M	0.07	0.61677	T	-3.89	0.72820	D	0.66	0.66959	-0.2641	0.75975	T	0.370	0.72917	T	10	0.6095069	0.67364	D	0.053089	0.65328	D	0.361	0.68141	.	.	0.842764597336	0.84126	0.7640151880188254	0.76349	0.73787972437	0.63083	0.463025271893	0.33725	T	0.407859	0.76335	T	-0.0635141	0.42357	T	-0.0807011	0.64853	T	0.482932179961957	0.32004	T	0.807619	0.57479	T	0.4470289	0.63853	0.5184307	0.72176	0.4470289	0.63854	0.5184307	0.72177	-7.099	0.54753	T	0.4343556056615661	0.52096	0.113	0.24733	B	.;.	.;.	4.134590	0.61898	24.4	0.99688220346015555	0.79775	0.95845	0.66400	D	AEFBI	0.804871	0.72961	D	0.577670927652929	0.71784	5.703623	0.574009836266024	0.73083	5.912693	0.999999999907311	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.86	5.86	0.93936	3.457000	0.52771	3.423000	0.38265	0.665000	0.62972	0.839000	0.30269	1.000000	0.68203	0.924000	0.46004	0.0:0.0:0.0:1.0	15.228	0.73056	133	0.94666	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	0.02381	1491.98	33	chr14	75622092	.	T	C	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=804;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.700;SOR=0.850	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1506,0,1502	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|1:13,12,0:25:99:0|1:77027445_C_T:464,0,510,504,546,1050:77027445	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|1:13,12,0:25:99:0|1:77027445_C_T:464,0,510,504,546,1050:77027445	6	6	8	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/1:103,50:163:99:142,0,1591	5	0	16	0
chr14	89162742	89162750	CCCTCGCTG	-	exonic	FOXN3	.	nonframeshift deletion	FOXN3:NM_005197:exon6:c.1071_1079del:p.E359_S361del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	.	0.0011	0.0002	0	0	0.0005	0.0018	0	6.08e-05	0.0001537	4	26028	rs533857726	0.0018	0.0018	0.0018	0.0018	0.0022	0.0017	0.0017	0.0021	0.0021	0.0002	0.0002	0.0012	2.52e-05	0.0006	0.0002	0.0022	0.0010	2.319e-05	0.0013	0.0014	0.0016	0.0011	0.0026	0.0012	0.0011	0.0022	0.0021	0.0003	0	0.0003	0.0014	0	0.0005	0	0.0026	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2350.94	33	chr14	89162741	.	CCCCTCGCTG	C	2350.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.870e-01;DP=831;ExcessHet=0.0000;FS=4.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.68;ReadPosRankSum=-1.678e+00;SOR=0.667	GT:AD:DP:GQ:PL	0/1:69,64:133:99:2365,0,2686	20	0	1	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	0/1:23,19,0,0,0,0,0:44:99:.:.:1218,0,848,1028,948,1912,1028,948,1912,1912,1028,948,1912,1912,1912,1028,948,1912,1912,1912,1912,1028,948,1912,1912,1912,1912,1912	1	5	3	0
chr14	92711922	92711922	G	A	exonic	LGMN	.	nonsynonymous SNV	LGMN:NM_005606:exon9:c.C644T:p.S215L	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	1.000	D	4.01	H	0.61	T	0.326	D	0.497	T	0.927	4.932	28.6	4.81	2.658	6.168	18.035	0.495	0.067829462754	.	.	4.118e-05	0	0	0	0	1.498e-05	0	0.0002	3.23e-05	5	154602	rs755125292	8.004e-05	8.072e-05	7.76e-05	8.251e-05	0.0003	6.801e-05	6.355e-05	7.686e-05	7.173e-05	0	2.236e-05	0	0	0	0.0003	9.174e-05	9.936e-05	6.957e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	5.287e-05	2.835e-05	0	0	0.0002	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.941	0.67658	D	0.000001	0.62929	D	0.060430	1	0.81001	D	3.225	0.89467	M	0.59	0.54911	T	-5.33	0.85103	D	0.763	0.77039	0.326	0.87972	D	0.497	0.80970	T	10	0.8361512	0.82771	D	0.067829	0.70279	D	0.495	0.78036	.	.	0.864503600798	0.86318	0.8276247116586376	0.82720	0.902901504755	0.70704	0.472838759422	0.35071	T	0.716246	0.91945	D	0.170097	0.71133	D	0.243225	0.85300	D	0.976465821266174	0.71392	D	0.959104	0.87317	D	0.90897506	0.92200	0.82728773	0.90008	0.90897506	0.92201	0.82728773	0.90009	-11.866	0.84192	D	.	.	0.526	0.75762	A	.;.;.;.	.;.;.;.	4.899075	0.80508	27.3	0.99930963246763971	0.99387	0.97139	0.72918	D	AEFBI	0.847720	0.76457	D	0.896916770913941	0.91608	10.970	0.778164482722187	0.88236	9.507526	0.999999999999935	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.81	4.81	0.61401	6.610000	0.74051	8.523000	0.77429	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:1.0:0.0	18.035	0.89222	906	0.23090	.;.;.;.	.	.	.	.	.	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	1447.98	39	chr14	92711922	.	G	A	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.250e-01;DP=923;ExcessHet=0.0000;FS=3.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.119e+00;SOR=0.986	GT:AD:DP:GQ:PL	0/1:74,62:136:99:1462,0,1899	20	0	1	0
chr14	94208473	94208473	A	C	exonic	PPP4R4	.	nonsynonymous SNV	PPP4R4:NM_001348145:exon3:c.A201C:p.Q67H	.	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.952	D	0.000	D	0.901	D	1.745	L	.	.	-0.588	T	0.234	T	0.467	3.301	17.09	1.88	0.084	0.776	8.051	0.392	0.010076433821	.	0.000399361	0.0005	0	9.096e-05	0	0	7.696e-05	0	0.0031	0.0003881	60	154602	rs143912585	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0007	4.517e-05	0.0002	0.0027	7.227e-05	7.218e-05	6.427e-05	8.064e-05	0.0015	3.971e-05	3.127e-05	0.0007	0.0005	0	0	0	0	0	0	0	5.887e-05	0	0.0015	0.018	0.72154	D	0.014	0.92824	D	0.307	0.70673	B	0.077	0.69102	B	0.000001	0.84330	D	0.055986	0.901289	0.36178	D	2.045	0.56016	M	.	.	.	-1.94	0.51157	N	0.524	0.61596	-0.5878	0.65308	T	0.234	0.60063	T	9	0.014137387	0.00298	T	0.010076	0.26191	T	0.392	0.70764	0.351	0.34922	0.236278675362	0.23226	0.6647364679824963	0.66410	0.921292065219	0.71464	0.566585123539	0.48195	T	0.050815	0.28703	T	-0.325006	0.06495	T	-0.243928	0.50413	T	0.106766890816218	0.13085	T	0.933507	0.75104	D	0.16534679	0.36800	0.11476845	0.27704	0.16534679	0.36800	0.11476845	0.27704	-7.487	0.57519	T	.	.	0.609	0.73830	P	.;.	.;.	1.822798	0.23161	15.91	0.99690058079012467	0.79842	0.82456	0.41681	D	AEFI	0.187481	0.31477	N	0.0328206784815014	0.43352	2.629882	0.0405610413214541	0.41617	2.503369	0.102296844634711	0.16410	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.51	1.88	0.24630	0.556000	0.23144	0.992000	0.23199	-0.648000	0.04400	0.998000	0.41325	0.989000	0.31174	0.579000	0.30870	0.7574:0.0:0.2426:0.0	8.051	0.29736	830	0.39242	.;.	.	.	.	.	.	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	1521.98	33	chr14	94208473	.	A	C	1521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.230e+00;DP=815;ExcessHet=0.0000;FS=2.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.400e+00;SOR=0.488	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1536,0,1349	20	0	1	0
chr14	94364422	94364422	G	A	exonic	SERPINA2	.	unknown	UNKNOWN,	.	.	422	1079	18	3	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0062241	162	26028	rs117934891	0.0034	0.0016	0.0033	0.0035	0.0685	0.0032	0.0031	0.0609	0.0580	0.0007	0	0	0.0234	4.687e-05	0.0031	0.0001	0.0034	0.0685	0.0033	0.0033	0.0021	0.0046	0.0631	0.0031	0.0030	0.0573	0.0550	0.0003	0	0.0001	0.0003	0.0337	0	0	0.0001	0.0014	0.0631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1658.98	34	chr14	94364422	.	G	A	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.979;DP=816;ExcessHet=0.0000;FS=1.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-5.860e-01;SOR=0.886	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1673,0,1408	20	0	1	0
chr14	94448587	94448587	T	C	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon2:c.A188G:p.K63R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.476	P	0.393	B	0.011	N	1.000	N	0.99	L	-2.37	D	-0.544	T	0.504	D	0.089	-2.245	0.004	2.49	0.353	0.455	8.252	0.196	0.0527733792442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.821	0.02951	T	0.752	0.04772	T	0.476	0.36665	P	0.393	0.44248	B	0.010536	0.29887	N	0.281477	0.999651	0.20771	N	1.47	0.36993	L	-2.37	0.88220	D	-0.36	0.13035	N	0.243	0.27435	-0.5439	0.67016	T	0.504	0.81276	D	10	0.2673887	0.44250	T	0.052773	0.65205	D	0.196	0.47777	0.681	0.81885	0.640445485288	0.63748	0.5171701939840244	0.51640	0.0580966946885	0.06437	0.37087982893	0.20957	T	0.036	0.24050	T	-0.135254	0.30648	T	-0.43206	0.29703	T	0.1756100307036	0.18954	T	0.513049	0.16451	T	0.04598133	0.07617	0.037752155	0.03493	0.04598133	0.07617	0.037752155	0.03493	-1.443	0.01651	T	.	.	0.068	0.02797	B	.	.	3.073367	0.41320	21.3	0.42852407348308785	0.03186	0.35423	0.25298	N	AEFBI	0.285587	0.39818	N	-0.839045330741308	0.12321	0.5998391	-0.888830903962118	0.12358	0.6352213	0.99540411205396	0.34108	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.85	2.49	0.29274	0.638000	0.24363	0.633000	0.20247	-0.688000	0.04154	0.369000	0.25916	0.003000	0.18671	0.000000	0.00833	0.0:0.3766:0.0:0.6234	8.252	0.30893	895	0.25842	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	0.02381	1394.98	61	chr14	94448587	.	T	C	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.209e+00;DP=1006;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-7.600e-02;SOR=0.595	GT:AD:DP:GQ:PL	0/1:41,53:94:99:1409,0,1187	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	0/1:83,74:157:99:.:.:1186,0,1451	0	0	21	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	1/1:1,79,0:80:99:3465,230,0,3468,245,3484	11	3	4	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,112,0:308:99:0|1:104946204_C_T:4054,0,7857,4643,8194,12837:104946204	1	7	12	0
chr14	104946840	104946840	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8311A:p.E2771K	.	.	425	1031	66	0	0	66	0.031015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.005	B	.	.	1.000	N	1.61	L	5.72	T	-0.908	T	0.003	T	0.055	0.664	7.558	1.0	0.031	0.201	7.453	0.053	0.00516765144614	.	.	0.0001	0.0011	0	0.0001	0	1.501e-05	0	0.0001	3.84e-05	1	26028	rs765833389	5.301e-05	0.0026	3.01e-05	7.62e-05	0.0005	4.305e-05	3.978e-05	0.0003	0.0003	0.0003	2.248e-05	0	0.0005	0	0.0005	1.804e-05	0.0003	7.087e-05	0.0003	0.0066	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.491e-05	0	0.0002	0.35	0.12305	T	0.304	0.20100	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.395	0.35261	L	5.72	0.00726	T	-1.82	0.42763	N	0.042	0.01498	-0.9083	0.47061	T	0.003	0.00897	T	9	0.02272144	0.00575	T	0.005168	0.13156	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.01070317848971027	0.01031	.	.	0.231759011745	0.02101	T	0.021887	0.16970	T	-0.38292	0.02986	T	-0.787815	0.02225	T	0.0484263979648418	0.05219	T	0.553645	0.19140	T	0.027281942	0.01897	0.058093388	0.10674	0.027281942	0.01897	0.058093388	0.10674	-8.163	0.62175	D	.	.	0.151	0.33365	B	.	.	0.952869	0.13291	9.792	0.63652803078570641	0.07281	0.04330	0.09889	N	AEFBI	.	.	.	-1.56462695524314	0.01451	0.06330527	-1.61025239373678	0.01594	0.07229178	1.11558074033666E-4	0.05269	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	1.0	0.18999	-0.219000	0.09233	-2.557000	0.03611	-2.359000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7292:0.0:0.2708	7.453	0.26421	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	0.07143	621.68	200	chr14	104946840	.	C	T	621.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.271;DP=5344;ExcessHet=0.3300;FS=9.545;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=57.91;MQRankSum=-8.933e+00;QD=0.51;ReadPosRankSum=-3.710e+00;SOR=1.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:349,32:381:99:0|1:104946840_C_T:272,0,14430:104946840	18	0	3	0
chr14	104946844	104946844	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8307C:p.Q2769H	.	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.222	B	0.126	B	.	.	1.000	N	-0.69	N	5.72	T	-0.921	T	0.001	T	0.092	0.937	8.821	-2.7	-0.340	-1.247	7.447	0.008	0.00456934809247	.	0.00199681	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	0.0001035	16	154602	rs549959692	0.0010	0.0031	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0003	6.734e-05	0.0007	0.0003	0.0049	0.0002	0.0010	0.0009	0.0001	0.0009	0.0062	0.0008	0.0010	0.0009	0.0008	0.0007	0.0008	0.0007	0.0007	0	0.0001	0.0012	0	0.0031	0	0.0009	0.0005	0	0.199	0.20456	T	0.044	0.49663	D	0.222	0.30359	B	0.126	0.32692	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	5.72	0.00726	T	-1.02	0.26843	N	0.054	0.02559	-0.9209	0.45431	T	0.001	0.00467	T	9	0.009157479	0.00207	T	0.004569	0.11283	T	0.008	0.00669	0.25	0.18757	0.0138822411134	0.00435	0.006695173993302265	0.00637	.	.	0.236160099506	0.02455	T	0.021859	0.16951	T	-0.663042	0.00060	T	-0.765724	0.02911	T	0.0259420974383474	0.01398	T	0.327667	0.06803	T	0.02251858	0.00921	0.035413582	0.02789	0.02251858	0.00921	0.035413582	0.02789	-4.563	0.31703	T	.	.	0.164	0.36234	B	.	.	-0.466991	0.01975	0.172	0.80392660186174825	0.13181	0.00383	0.01935	N	AEFBI	.	.	.	-1.48234254240428	0.01974	0.08670879	-1.54650334495513	0.02000	0.09137707	2.74653825623093E-4	0.06300	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.7	0.05651	-1.316000	0.02818	-20.000000	0.00162	-4.377000	0.00031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5322:0.2016:0.2662	7.447	0.26386	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	0.04762	422.11	200	chr14	104946844	.	T	G	422.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.300e-01;DP=5331;ExcessHet=0.1072;FS=7.642;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.27;MQRankSum=-8.789e+00;QD=0.53;ReadPosRankSum=-3.637e+00;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,31:387:99:0|1:104946840_C_T:219,0,14737:104946840	19	0	2	0
chr14	104946846	104946846	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8305G:p.Q2769E	.	.	423	1048	51	0	0	51	0.0237541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.0	B	0.0	B	.	.	1.000	N	-1.79	N	5.84	T	-0.953	T	0.001	T	0.094	-0.115	3.436	-0.215	-0.313	-1.604	6.202	0.013	0.00601287222755	.	.	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	2.59e-05	4	154602	rs765081436	0.0010	0.0027	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0002	6.728e-05	0.0007	0.0002	0.0049	0.0002	0.0010	0.0007	9.387e-05	0.0009	0.0051	0.0008	0.0009	0.0009	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0001	0.0012	0	0.0030	0	0.0009	0.0005	0	0.83	0.02884	T	0.617	0.07518	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.115	0.04602	N	5.84	0.00647	T	0.89	0.01641	N	0.02	0.00308	-0.9529	0.40468	T	0.001	0.00255	T	9	0.009065419	0.00205	T	0.006013	0.15698	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0016092417742788088	0.00148	.	.	0.228061407804	0.01827	T	0.016132	0.13395	T	-0.648084	0.00074	T	-0.744237	0.03715	T	0.00364170349492424	0.00039	T	0.339966	0.07337	T	0.02530059	0.01453	0.03273809	0.02056	0.02530059	0.01453	0.03273809	0.02056	-2.714	0.07421	T	.	.	0.060	0.01011	B	.	.	-0.105849	0.03606	0.709	0.30481252660818753	0.01669	0.00077	0.00530	N	AEFBI	.	.	.	-1.80290082682248	0.00538	0.02316779	-1.74440261055854	0.00955	0.04273961	1.08048917805001E-4	0.05123	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-0.215	0.12510	0.146000	0.16000	-10.489000	0.00696	-0.266000	0.06809	0.237000	0.24716	0.000000	0.08366	0.000000	0.00833	0.0:0.5285:0.3634:0.1081	6.202	0.19793	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	369.11	200	chr14	104946846	.	G	C	369.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.181e+00;DP=5308;ExcessHet=0.1072;FS=9.601;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.35;MQRankSum=-8.540e+00;QD=0.46;ReadPosRankSum=-2.703e+00;SOR=1.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,30:387:99:0|1:104946840_C_T:185,0,14900:104946840	19	0	2	0
chr14	104946849	104946849	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8302A:p.A2768T	.	.	422	1059	41	0	0	41	0.0189903	.	.	3409374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.72	T	0.028	B	0.006	B	.	.	1.000	N	2.85	M	5.55	T	-0.856	T	0.004	T	0.119	1.122	9.573	-2.0	-0.878	-1.324	0.865	0.040	0.0032799704562	.	.	0.0002	0.0010	8.639e-05	0.0005	0	9.003e-05	0.0011	0.0003	0.000207	32	154602	rs781609751	0.0001	0.0012	8.323e-05	0.0001	0.0047	8.739e-05	8.224e-05	0.0033	0.0029	9.104e-05	4.479e-05	7.66e-05	0.0002	0	0.0047	6.395e-05	0.0003	0.0002	0.0002	0.0037	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0001	0.0003	0.0004	0	0.0070	8.894e-05	0.0005	0.0002	0.048	0.40068	D	0.231	0.25061	T	0.028	0.19712	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	5.55	0.00874	T	-0.82	0.22508	N	0.065	0.03726	-0.8556	0.51577	T	0.004	0.01400	T	9	0.026404798	0.00808	T	0.00328	0.07268	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.002754179350592718	0.00256	.	.	0.210492774844	0.00832	T	0.022204	0.17162	T	-0.324054	0.06571	T	-0.703257	0.05649	T	0.0342946946823724	0.02687	T	0.329367	0.06881	T	0.02186054	0.00812	0.049946822	0.07739	0.02186054	0.00811	0.049946822	0.07738	-7.621	0.58457	D	.	.	0.101	0.17445	B	.	.	0.282115	0.06588	3.080	0.90699426532362137	0.19950	0.01201	0.04282	N	AEFBI	.	.	.	-1.17912363358261	0.05316	0.2420568	-1.34729888941916	0.03838	0.1798289	1.51879746510354E-4	0.05650	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.0	0.07024	-1.956000	0.01613	-14.507000	0.00400	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3038:0.3553:0.1498:0.191	0.865	0.01125	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	0.04762	53.14	200	chr14	104946849	.	C	T	53.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=5324;ExcessHet=0.1072;FS=10.501;InbreedingCoeff=-0.0464;MLEAC=1;MLEAF=0.024;MQ=58.43;MQRankSum=-9.015e+00;QD=0.07;ReadPosRankSum=-2.639e+00;SOR=1.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,27:401:8:0|1:104946840_C_T:8,0,15623:104946840	19	0	2	0
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A	.	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	.	.	1.000	N	-1.425	N	5.92	T	-0.974	T	0.001	T	0.022	-0.352	2.336	-3.46	-2.072	-0.254	6.357	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	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	0.1923	1041.93	10	chr14	104949306	.	T	C	1041.93	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.730e-01;DP=1943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5554;MLEAC=7;MLEAF=0.269;MQ=56.75;MQRankSum=-1.450e+01;QD=4.53;ReadPosRankSum=0.363;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,20:212:99:0|1:104949306_T_C:262,0,8002:104949306	10	2	1	8
chr14	104949318	104949318	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5833G:p.L1945V	.	.	897	624	1	0	0	1	0.000800641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.885	P	0.58	P	.	.	1.000	N	1.025	L	5.63	T	-1.013	T	0.003	T	0.103	0.024	4.137	-7.75	-1.744	-3.668	10.794	0.106	.	.	0.117612	0.0002	0.0004	0.0001	0	0	0.0002	0	0.0003	0.0049288	762	154602	rs11850885	0.0003	0.0005	0.0003	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	6.32e-05	8.79e-05	0.0017	0	2.892e-05	0	0.0003	0.0001	0.0005	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0001	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	0.0002	0	0.0009	0.223	0.18757	T	0.812	0.03921	T	0.885	0.48692	P	0.58	0.50189	P	.	.	.	.	1	0.08975	N	0.655	0.16177	N	5.63	0.00800	T	-0.52	0.16187	N	0.07	0.04307	-1.0129	0.26007	T	0.003	0.00994	T	9	0.0019224286	0.00026	T	.	.	.	0.106	0.30130	.	.	0.0138822411134	0.00435	0.0038472276690488813	0.00360	.	.	0.181934326887	0.00113	T	0.021388	0.16665	T	-0.36457	0.03878	T	-0.761456	0.03060	T	0.0235637607314751	0.01091	T	0.368563	0.08641	T	0.033152208	0.03479	0.046905622	0.06640	0.033152208	0.03479	0.046905622	0.06640	-5.32	0.40140	T	.	.	0.079	0.07507	B	.	.	-0.271608	0.02745	0.366	0.38018040820387061	0.02540	0.00395	0.01981	N	AEFBI	.	.	.	-1.35997308706623	0.03023	0.1343823	-1.60646868761233	0.01617	0.07334436	0.528482519546675	0.21156	0.562547	0.31514	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	3.87	-7.75	0.01099	-1.981000	0.01580	-20.000000	0.00162	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5376:0.1224:0.34	10.794	0.45655	982	0.03397	.	.	.	.	.	.	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	0.04167	429.68	28	chr14	104949318	.	G	C	429.68	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.491e+00;DP=2299;ExcessHet=0.0000;FS=23.397;InbreedingCoeff=0.3596;MLEAC=2;MLEAF=0.083;MQ=58.05;MQRankSum=-9.432e+00;QD=1.88;ReadPosRankSum=-5.587e+00;SOR=2.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,25:228:99:0|1:104949318_G_C:439,0,8449:104949318	11	0	1	9
chr14	104949329	104949329	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5822T:p.P1941L	.	.	895	625	2	0	0	2	0.00159744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.999	D	.	.	1.000	N	3	M	4.49	T	-1.092	T	0.036	T	0.36	2.821	15.40	3.87	1.720	-1.423	14.471	0.148	.	.	0.205671	0.0030	0.0014	0.0012	0.0001	0.0023	0.0046	0.0123	0.0030	0.0469494	1222	26028	rs150446570	0.0005	0.0009	0.0005	0.0005	0.0014	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0030	2.638e-05	0.0002	0.0014	0.0006	0.0003	0.0007	0.0007	0.0060	0.0006	0.0008	0.0022	0.0005	0.0005	0.0008	0.0005	0.0007	0.0030	0.0006	0	0.0002	0.0002	0	0.0007	0	0.0022	0.006	0.61437	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.91	0.84121	M	4.49	0.02049	T	-6.66	0.92302	D	0.091	0.06990	-1.0923	0.05159	T	0.036	0.15640	T	9	0.0021820068	0.00031	T	.	.	.	0.148	0.39182	.	.	.	.	0.021720322794149503	0.02124	.	.	0.238025203347	0.02615	T	0.054616	0.29774	T	-0.135836	0.30554	T	-0.432895	0.29606	T	0.100482986758683	0.12411	T	0.566943	0.20077	T	0.07432288	0.16670	0.12371494	0.29830	0.07432288	0.16669	0.12371494	0.29829	-6.184	0.47793	T	.	.	0.098	0.16275	B	.	.	1.954304	0.24822	16.54	0.9936398211619496	0.61155	0.09297	0.15081	N	AEFBI	.	.	.	0.03374022969818	0.43395	2.633305	-0.227398894291626	0.30559	1.721627	0.0881580819466753	0.16053	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	3.87	0.43823	1.402000	0.34209	1.122000	0.24252	-0.184000	0.09925	0.018000	0.19461	0.001000	0.17328	0.001000	0.02609	0.0:0.0:1.0:0.0	14.471	0.67093	982	0.03397	.	.	.	.	.	.	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	0.05556	927.8	65	chr14	104949329	.	G	A	927.8	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.40;DP=2674;ExcessHet=0.0000;FS=15.010;InbreedingCoeff=0.3017;MLEAC=2;MLEAF=0.111;MQ=57.71;MQRankSum=-9.128e+00;QD=3.91;ReadPosRankSum=-5.688e+00;SOR=1.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,38:237:99:0|1:104949318_G_C:935,0,8132:104949318	8	0	1	12
chr14	105143063	105143063	G	A	exonic	JAG2	.	nonsynonymous SNV	JAG2:NM_145159:exon25:c.C3235T:p.R1079W	.	.	411	1065	44	2	0	48	0.0220386	.	.	702786	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.9	P	0.271	N	0.813	D	1.59	L	-2.19	D	0.365	D	0.590	D	0.453	3.408	17.51	4.09	2.111	3.638	9.287	0.400	0.550986740197	0.0060	0.00279553	0.0067	0.0011	0.0034	0	0.0039	0.0094	0.0064	0.0063	0.0062742	970	154602	rs34728766	0.0080	0.0079	0.0080	0.0080	0.0094	0.0079	0.0078	0.0086	0.0085	0.0015	0.0042	0.0114	5.04e-05	0.0054	0.0094	0.0087	0.0071	0.0069	0.0059	0.0059	0.0060	0.0057	0.0089	0.0056	0.0054	0.0083	0.0081	0.0013	0.0264	0.0058	0.0115	0	0.0038	0.0205	0.0089	0.0043	0.0058	0.028	0.56456	D	0.021	0.58089	D	0.999	0.77913	D	0.846	0.63913	P	0.271362	0.15121	N	0.648787	0.812943	0.34667	D	2.555	0.74557	M	-2.19	0.86815	D	-4.24	0.76576	D	0.313	0.35938	0.365	0.88568	D	0.590	0.85329	D	10	0.0067113936	0.00152	T	0.550987	0.95860	D	0.400	0.71401	.	.	0.745179119767	0.74288	0.5502876314655247	0.54954	0.714357934396	0.61881	0.666381239891	0.62321	T	0.839	0.96231	D	-0.241819	0.15119	T	-0.110737	0.62553	T	0.0422880266963858	0.04108	T	0.952805	0.83579	D	0.14168425	0.32638	0.1480713	0.35016	0.14168425	0.32637	0.1480713	0.35015	-14.034	0.93583	D	.	.	0.096	0.29724	B	.;.	.;.	5.370889	0.90040	31	0.99901152410059391	0.97275	0.89593	0.50157	D	AEFBI	0.387197	0.46727	N	0.451848610930217	0.64307	4.682385	0.404861936367212	0.61868	4.392977	0.612575134971493	0.21817	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	2.345000	0.43675	7.301000	0.58090	0.618000	0.50648	0.586000	0.27634	1.000000	0.68203	0.986000	0.61781	0.1003:0.0:0.8997:0.0	9.287	0.36925	982	0.03397	.;.	.	.	.	.	.	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	1301.98	38	chr14	105143063	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.495;DP=896;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-7.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1316,0,1481	20	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,18,7:92:99:.:.:453,0,2664,483,2075,3244	10	0	7	1
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|2:65,0,16:81:99:0|1:20534647_C_T:403,598,2967,0,2369,2321:20534647	5	0	14	0
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|2:65,0,8:73:99:0|1:20534664_CT_C:136,325,2796,0,2471,2447:20534664	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|2:65,0,8:73:99:0|1:20534664_CT_C:136,325,2796,0,2471,2447:20534664	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|1:68,8,0:76:99:0|1:20534664_CT_C:127,0,2593,325,2617,2942:20534664	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|1:68,8,0:76:99:0|1:20534664_CT_C:127,0,2593,325,2617,2942:20534664	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|1:68,8,0:76:99:0|1:20534664_CT_C:127,0,2593,325,2617,2942:20534664	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|1:68,8,0:76:99:0|1:20534664_CT_C:127,0,2593,325,2617,2942:20534664	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|1:68,8,0:76:99:0|1:20534664_CT_C:127,0,2593,325,2617,2942:20534664	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|2:68,0,8:76:99:0|1:20534664_CT_C:127,325,2942,0,2617,2593:20534664	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|2:42,7,11:60:99:0|1:20534647_C_T:331,167,1871,0,1396,1644:20534647	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|1:50,7,0:57:99:0|1:20534664_CT_C:143,0,2079,294,2100,2394:20534664	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|1:50,7,0:57:99:0|1:20534664_CT_C:143,0,2079,294,2100,2394:20534664	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|1:48,5,0:53:65:0|1:20534664_CT_C:65,0,1992,210,2008,2217:20534664	7	0	1	2
chr15	20534940	20534942	CTC	-	exonic	GOLGA6L6	.	nonframeshift deletion	GOLGA6L6:NM_001145004:exon8:c.1492_1494del:p.E498del,	.	.	425	1086	9	2	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0025	0	0	0.0010	0	0.0001	7.68e-05	2	26028	rs776701213	0.0006	0.0009	0.0005	0.0007	0.0022	0.0006	0.0006	0.0019	0.0018	0.0001	0.0001	0.0054	2.867e-05	0.0004	0.0020	0.0004	0.0008	0.0022	0.0008	0.0013	0.0007	0.0010	0.0019	0.0007	0.0007	0.0010	0.0008	0.0002	0	0.0006	0.0071	0	9.8e-05	0	0.0010	0.0015	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1180.94	42	chr15	20534939	.	TCTC	T	1180.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e-01;DP=1040;ExcessHet=0.0000;FS=5.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.96;MQRankSum=-2.747e+00;QD=14.58;ReadPosRankSum=2.99;SOR=0.520	GT:AD:DP:GQ:PL	0/1:49,32:81:99:1195,0,1900	20	0	1	0
chr15	22080637	22080637	A	G	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A13G:p.N5D,	.	.	1026	484	8	4	0	16	0.0162602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.915	D	0.000	D	0.870	N	3.665	H	4.43	T	-1.122	T	0.018	T	0.088	2.889	15.62	2.5	1.167	5.303	8.582	0.135	.	0.0082	.	0.0119	0.0349	0.0090	0	0.0041	0.0134	0.0091	0.0025	0.0098705	1526	154602	rs111484216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	0.98	0.59353	D	0.915	0.65091	D	0.000114	0.50451	D	0.000000	0.87046	0.28215	N	2.895	0.83812	M	.	.	.	.	.	.	0.111	0.09772	-1.1218	0.02221	T	0.018	0.07518	T	10	0.0040432215	0.00079	T	.	.	.	.	.	.	.	.	.	0.07997864277807154	0.07932	.	.	.	.	.	0.033863	0.23088	T	-0.5922	0.00163	T	-0.604507	0.12435	T	0.055267436674093	0.06401	T	0.643236	0.25495	T	0.10142145	0.23956	0.17873825	0.40562	0.10142145	0.23956	0.17873825	0.40562	-8.976	0.67542	D	.	.	0.170	0.37274	B	.	.	4.391943	0.67793	25.1	0.99724402241935428	0.82266	0.90083	0.50987	D	AEFGBCI	0.574722	0.57739	D	0.574802962569376	0.71604	5.676308	0.399994223797025	0.61564	4.35835	0.991497242129926	0.32508	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	3.058000	0.49632	8.721000	0.78162	0.334000	0.19664	0.992000	0.37556	1.000000	0.68203	0.469000	0.28319	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1111	1867.53	14	chr15	22080637	.	A	G	1867.53	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.106;DP=478;ExcessHet=0.0113;FS=0.000;InbreedingCoeff=0.3866;MLEAC=5;MLEAF=0.139;MQ=33.98;MQRankSum=1.58;QD=13.73;ReadPosRankSum=0.310;SOR=0.487	GT:AD:DP:GQ:PL	0/1:39,24:63:99:689,0,1236	15	1	2	3
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:1,70:71:99:2259,204,0	1	16	3	1
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|2:56,0,25:81:99:0|1:23361378_GGAGCAGCAGGAGAGGCTTCCA_G:887,1056,3407,0,2351,2271:23361378	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	1|2:3,25,52:80:99:1|0:23361378_GGAGCAGCAGGAGAGGCTTCCA_G:2679,1508,2172,1019,0,887:23361378	11	0	6	0
chr15	23439859	23439859	-	TCATCTCCTCCTGCCCCCACATCT	exonic	GOLGA6L2	.	nonframeshift insertion	GOLGA6L2:NM_001304388:exon8:c.2615_2616insAGATGTGGGGGCAGGAGGAGATGA:p.G871_D872insEDVGAGGD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.311e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	.	1.26e-05	0.0002	8.773e-06	1.653e-05	7.721e-05	7.68e-06	6.27e-06	3.269e-05	2.217e-05	3.234e-05	2.885e-05	0	0	3.039e-05	0	6.641e-06	1.78e-05	7.721e-05	7.693e-05	0.0002	4.966e-05	0.0001	0.0001	2.039e-05	1.065e-05	2.185e-05	8.79e-06	7.46e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	205.09	95	chr15	23439859	.	A	ATCATCTCCTCCTGCCCCCACATCT	205.09	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.800e-02;DP=1800;ExcessHet=0.0000;FS=3.408;InbreedingCoeff=-0.1507;MLEAC=2;MLEAF=0.083;MQ=59.66;MQRankSum=-1.733e+00;QD=5.40;ReadPosRankSum=1.65;SOR=1.345	GT:AD:DP:GQ:PL	0/1:29,9:38:99:215,0,1051	11	0	1	9
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	1/2:0,70,92:162:99:.:.:5675,2968,3743,2880,0,2595	0	0	2	0
chr15	23646208	23646208	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C1535T:p.P512L,	Schaaf-Yang syndrome, Autosomal dominant	.	12	1506	4	0	0	4	0.00132626	.	.	270370	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886043318	4.206e-05	3.625e-05	3.728e-05	4.722e-05	0.0009	3.235e-05	2.92e-05	0.0002	0.0001	0	0	0	0	0	0.0009	4.461e-05	6.119e-05	0	4.608e-05	4.598e-05	5.145e-05	4.044e-05	8.832e-05	2.113e-05	1.529e-05	3.766e-05	2.578e-05	2.417e-05	0	0	0	0	0	0	8.832e-05	0	0	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	0.13717544	0.26096	T	.	.	.	.	.	.	.	0.0675242888579	0.06100	0.09814208639379655	0.09745	.	.	0.76758646965	0.77063	T	0.080203	0.36309	T	-0.174541	0.24550	T	-0.488492	0.23549	T	.	.	.	0.562644	0.19782	T	0.056856643	0.11243	0.09666773	0.22978	0.056856643	0.11242	0.09666773	0.22977	-3.929	0.22738	T	.	.	0.134	0.29004	B	.;.	.;.	1.493515	0.19208	14.15	0.77524934632848275	0.11912	0.01727	0.05464	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.989728114854722	0.31916	0.110573	0.02883	0	0.063388	0.01293	0	0.119651	0.03204	0	0.062806	0.01542	0	0.0698352	0.16490	3.36	1.15	0.19876	-2.351000	0.01171	0.507000	0.19047	0.519000	0.23678	0.000000	0.06391	0.151000	0.23179	0.357000	0.25818	0.0:0.0:0.4712:0.5288	9.127	0.35982	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	1	0	0	0	0	0	0	0.02381	856.98	34	chr15	23646208	.	G	A	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.885;DP=822;ExcessHet=0.0000;FS=3.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.140;SOR=0.387	GT:AD:DP:GQ:PL	0/1:40,36:76:99:871,0,925	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/2:0,47,31:78:99:2534,804,668,1395,0,1181	0	10	0	0
chr15	34367051	34367051	C	G	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon1:c.G50C:p.G17A,	.	.	451	1063	7	1	0	9	0.00421546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.598	P	0.135	B	0.668	N	1.000	N	-1.04	N	-1.25	T	-0.929	T	0.115	T	0.298	-0.725	0.893	3.61	2.052	0.705	7.540	0.210	0.399619492989	.	0.000199681	0.0007	0	0.0013	0.0005	0	0.0012	0.0056	0.0001	0.0001294	20	154602	rs199696158	0.0007	0.0006	0.0007	0.0007	0.0070	0.0007	0.0006	0.0049	0.0042	0.0005	0.0004	0.0055	0.0002	0	0.0070	0.0006	0.0014	0.0001	0.0005	0.0005	0.0004	0.0006	0.0018	0.0004	0.0004	0.0012	0.0011	2.409e-05	0	0.0018	0.0049	0	0	0.0068	0.0004	0.0005	0	0.227	0.18498	T	1.0	0.01155	T	0.043	0.21573	B	0.027	0.21085	B	0.668467	0.10363	N	0.837370	1	0.08975	N	-0.695	0.01866	N	-1.25	0.79072	T	0.54	0.02764	N	0.161	0.16864	-0.9287	0.44328	T	0.115	0.40717	T	10	0.009805411	0.00220	T	0.399619	0.93368	D	0.210	0.50028	.	.	0.332276917938	0.32835	0.6746182455795737	0.67399	3.35281643212E-4	0.00031	0.845378637314	0.88915	D	0.012424	0.10924	T	-0.196729	0.21276	T	-0.194423	0.55173	T	0.0542396334732095	0.06230	T	0.516848	0.16688	T	0.068275765	0.14859	0.13942178	0.33265	0.068275765	0.14859	0.13942178	0.33264	-3.41	0.15191	T	.	.	0.074	0.04975	B	.	.	1.478360	0.19034	14.06	0.59726418079904886	0.06292	0.16734	0.19524	N	AEFDBHCI	0.060712	0.11557	N	-0.889632622103055	0.11088	0.5332372	-0.777692557039351	0.15042	0.7891394	0.999999999991505	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	4.54	3.61	0.40494	1.001000	0.29384	1.596000	0.27557	0.476000	0.22017	0.296000	0.25288	0.885000	0.27754	0.442000	0.27716	0.0:0.8834:0.0:0.1166	7.540	0.26902	682	0.59757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1699.11	35	chr15	34367051	.	C	G	1699.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.82;DP=848;ExcessHet=0.1072;FS=0.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.182;SOR=0.745	GT:AD:DP:GQ:PL	0/1:48,27:75:99:693,0,1188	19	0	2	0
chr15	42840406	42840406	C	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon4:c.G245C:p.G82A,	Spinocerebellar ataxia 11, Autosomal dominant	.	2	1514	6	0	0	6	0.00197759	.	.	441741	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.902	P	0.902	P	0.000	D	1.000	D	0.75	N	1.93	T	-1.019	T	0.107	T	0.889	3.021	16.08	5.31	2.648	6.988	18.935	0.420	0.14805088156	0.0003	0.000399361	0.0003	0	0	0	0	0.0005	0	0.0002	0.0002523	39	154602	rs200821440	0.0003	0.0003	0.0003	0.0003	0.0045	0.0002	0.0002	0.0032	0.0027	0.0006	0.0001	0	0	0	0.0045	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0.0102	0.0004	0.0009	0.0002	0.036	0.43393	D	0.04	0.59732	D	0.597	0.49745	P	0.678	0.64047	P	0.000000	0.84330	D	0.044251	1	0.81001	D	0.505	0.13445	N	1.93	0.22881	T	-5.71	0.89401	D	0.93	0.94196	-1.0190	0.24041	T	0.107	0.38955	T	10	0.42749122	0.57271	T	0.148051	0.83001	D	0.420	0.72930	.	.	0.476521225925	0.47281	0.7631474613662579	0.76262	0.903865718972	0.70756	0.779498100281	0.78851	T	0.354751	0.72186	T	-0.192418	0.21904	T	-0.155591	0.58746	T	0.26270267367363	0.23432	T	0.980302	0.94694	D	0.87693137	0.89417	0.81012625	0.88908	0.9195968	0.93209	0.79001737	0.87647	-9.112	0.68414	D	.	.	0.864	0.80551	P	.;.;.;.;.	.;.;.;.;.	4.838636	0.78981	27.0	0.95334170494985193	0.26697	0.97518	0.75271	D	AEFBI	0.883216	0.81195	D	0.472593576090897	0.65496	4.829807	0.560772000652274	0.72148	5.764658	0.999999037759939	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	7.211000	0.77438	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.935	0.92554	99	0.95913	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1582.11	39	chr15	42840406	.	C	G	1582.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.03;DP=866;ExcessHet=0.1072;FS=1.913;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-3.840e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/1:69,37:106:99:838,0,1648	19	0	2	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	0/1:106,64:170:99:268,0,2093	4	0	13	4
chr15	52124541	52124541	C	T	exonic	GNB5	.	nonsynonymous SNV	GNB5:NM_001379343:exon10:c.G826A:p.V276I	Intellectual developmental disorder with cardiac arrhythmia, Autosomal recessive;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1198640	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.338	B	0.075	B	0.000	D	1.000	D	-0.055	N	-0.25	T	-0.899	T	0.140	T	0.155	2.940	15.80	5.07	1.560	5.905	15.341	0.139	0.0200841328808	.	.	6.591e-05	0	0	0	0	4.497e-05	0	0.0003	5.17e-05	8	154602	rs763538889	4.516e-05	4.515e-05	2.179e-05	6.877e-05	0.0004	3.642e-05	3.322e-05	0.0003	0.0002	0.0001	0.0001	0	0	0	0	2.069e-05	4.969e-05	0.0004	3.938e-05	3.937e-05	5.139e-05	2.684e-05	0.0004	1.714e-05	1.128e-05	7.29e-05	3.029e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0.0004	0.118	0.29554	T	0.202	0.27591	T	0.009	0.33405	B	0.007	0.28327	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.25	0.67011	T	-0.66	0.19085	N	0.255	0.33904	-0.8987	0.48125	T	0.140	0.45903	T	10	0.2358593	0.40655	T	0.020084	0.42598	T	0.139	0.37390	0.714	0.84962	0.605332244828	0.60217	0.3871397900187157	0.38628	0.378931172671	0.39296	0.801466464996	0.82186	T	0.142	0.47767	T	-0.282412	0.10413	T	-0.343118	0.39990	T	0.169850423932076	0.18570	T	0.956404	0.84623	D	0.11243324	0.26562	0.08883867	0.20737	0.11243324	0.26561	0.08883867	0.20737	-7.61	0.60325	D	0.1546909591715261	0.18490	0.113	0.22135	B	.;.;.	.;.;.	3.713200	0.53021	23.3	0.9903017514922321	0.50786	0.85600	0.44750	D	ALL	0.538707	0.55599	D	-0.289808579406243	0.29540	1.639107	-0.146455844635163	0.33545	1.919954	0.999999999999842	0.74766	0.730579	0.87903	0	0.719019	0.82233	0	0.643519	0.47002	0	0.648885	0.59868	0	.	.	5.98	5.07	0.68106	5.985000	0.70235	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.430000	0.27449	0.0:0.9334:0.0:0.0666	15.341	0.74012	260	0.89800	WD40-repeat-containing domain;.;WD40-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	0.04762	2819.11	35	chr15	52124541	.	C	T	2819.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.477;DP=955;ExcessHet=0.1072;FS=3.258;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=1.02;SOR=0.521	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1299,0,1897	19	0	2	0
chr15	54014519	54014519	G	A	exonic	UNC13C	.	nonsynonymous SNV	UNC13C:NM_001080534:exon2:c.G1616A:p.S539N	.	.	423	1074	23	2	0	27	0.0124138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.012	B	0.007	B	.	.	1.000	D	0	N	-1.43	T	-0.718	T	0.220	T	0.039	0.625	7.362	5.01	2.608	5.017	6.904	0.287	.	.	0.0321486	0.0169	0.0002	0.0005	0.0026	0	6.02e-05	0.0135	0.1207	0.0147734	2284	154602	rs201904954	0.0071	0.0071	0.0039	0.0103	0.1116	0.0070	0.0069	0.1098	0.1090	0.0003	0.0002	0	0.0013	0	0.0066	9.354e-05	0.0083	0.1116	0.0042	0.0042	0.0024	0.0061	0.1236	0.0040	0.0038	0.1154	0.1121	0.0001	0	0.0008	0	0.0023	0	0.0034	7.353e-05	0.0052	0.1236	0.311	0.13971	T	1.0	0.01155	T	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.657326	0.33019	D	0.345	0.11182	N	-1.43	0.80730	T	0.26	0.04380	N	0.021	0.00339	-0.7184	0.59541	T	0.220	0.58279	T	9	0.0016723871	0.00020	T	.	.	.	0.287	0.60574	.	.	.	.	0.4083810185238867	0.40754	0.0401026956818	0.04292	0.537435829639	0.44083	T	0.062135	0.31838	T	-0.560659	0.00251	T	-0.481407	0.24297	T	0.0170661333447909	0.00453	T	0.644935	0.25655	T	0.08069248	0.18503	0.10918884	0.26311	0.08069248	0.18503	0.10918884	0.26311	-5.466	0.41549	T	.	.	0.074	0.09094	B	.;.	.;.	2.694065	0.35175	19.83	0.96017160999944662	0.28462	0.93261	0.57746	D	AEFI	0.609805	0.59887	D	-0.156615863301244	0.34953	2.001682	0.0783121737459946	0.43459	2.647272	0.0170367636193926	0.12904	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	5.096000	0.64369	8.702000	0.78110	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1852:0.0:0.8148:0.0	6.904	0.23476	843	0.36859	.;.	.	.	.	.	.	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	6933.11	36	chr15	54014519	.	G	A	6933.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=1226;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.091;SOR=0.684	GT:AD:DP:GQ:PL	0/1:118,129:247:99:3567,0,2874	19	0	2	0
chr15	63922826	63922826	C	G	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon10:c.G1376C:p.G459A,	.	.	423	1089	8	2	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0014	0.0125	0	0	0	0.0025	0	0.0001	0.0003169	49	154602	rs111424786	0.0008	0.0008	0.0009	0.0008	0.0111	0.0008	0.0008	0.0089	0.0081	0.0093	0.0025	0.0009	2.798e-05	0	0.0111	0.0005	0.0019	0.0002	0.0032	0.0032	0.0034	0.0030	0.0090	0.0030	0.0029	0.0083	0.0080	0.0090	0	0.0027	0.0003	0	0	0.0034	0.0010	0.0009	0.0002	0.062	0.36912	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	.	.	.	-0.27	0.67367	T	-0.1	0.08495	N	0.063	0.03956	.	.	.	.	.	.	.	0.006806046	0.00155	T	.	.	.	.	.	.	.	0.635244795662	0.63225	0.05314374401321491	0.05256	.	.	.	.	.	.	.	.	-0.504281	0.00541	T	-0.489179	0.23477	T	.	.	.	0.466053	0.13673	T	.	.	.	.	.	.	.	.	-3.606	0.17944	T	.	.	0.078	0.06896	B	.;.	.;.	0.929393	0.13044	9.550	0.9302063764983689	0.22617	0.52527	0.29153	D	AEFDBI	0.138678	0.26004	N	.	.	.	.	.	.	0.999915613234714	0.45857	0.487112	0.14033	0	0.546412	0.12157	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.26	3.36	0.37579	1.014000	0.29553	1.004000	0.23282	0.599000	0.40250	0.999000	0.42656	0.605000	0.25739	0.016000	0.10718	0.0:0.5535:0.1907:0.2558	3.955	0.08880	117	0.95266	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1289.98	61	chr15	63922826	.	C	G	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=1346;ExcessHet=0.0000;FS=3.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-7.350e-01;SOR=1.089	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1304,0,1622	20	0	1	0
chr15	65644510	65644510	G	A	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001254740:exon2:c.G118A:p.E40K	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	3	1517	2	0	0	2	0.000658762	.	.	1405084	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.974	D	0.647	P	0.143	U	1.000	N	1.7	L	-0.06	T	-0.755	T	0.337	T	0.331	3.556	18.13	3.53	1.161	3.320	10.305	0.079	0.024115029217	.	.	2.735e-05	0	0	0	0	5.165e-05	0	0	2.59e-05	4	154602	rs763726316	1.752e-05	1.847e-05	1.944e-05	1.557e-05	8.228e-06	1.203e-05	1.017e-05	3.87e-06	2.8e-06	0	0	0.0005	0	0	0	8.228e-06	6.76e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0.0009	0	0	0	1.47e-05	0	0	0.033	0.46129	D	0.219	0.26306	T	0.974	0.57829	D	0.647	0.52336	P	0.142522	0.02897	U	2.436200	1	0.81001	D	2.365	0.68172	M	-0.06	0.68329	T	-1.21	0.30964	N	0.326	0.40665	-0.7552	0.57662	T	0.337	0.70363	T	10	0.11666596	0.22014	T	0.024115	0.47104	T	0.079	0.23065	0.242	0.17524	0.80309898969	0.80125	0.3576150364052444	0.35675	0.253525898805	0.27924	0.366490870714	0.20327	T	0.012983	0.53041	T	-0.0552372	0.43647	T	-0.265284	0.48296	T	0.109902141505471	0.13413	T	0.906209	0.66975	D	0.063410394	0.13347	0.06727513	0.13896	0.063410394	0.13347	0.06727513	0.13896	-4.337	0.28692	T	.	.	0.082	0.12323	B	.;.;.;.;.	.;.;.;.;.	3.312300	0.45517	22.1	0.99844717447806497	0.92489	0.82625	0.41827	D	AEFDBCI	0.150874	0.27525	N	0.101237424515873	0.46519	2.891148	0.132608726659028	0.46225	2.872143	0.999999931267107	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	4.47	3.53	0.39533	3.070000	0.49732	3.060000	0.36156	0.676000	0.76740	0.998000	0.41325	0.999000	0.35428	0.941000	0.48210	0.0:0.0:0.8019:0.1981	10.305	0.42853	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	0.02381	696.98	33	chr15	65644510	.	G	A	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=753;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-8.250e-01;SOR=0.345	GT:AD:DP:GQ:PL	0/1:33,27:60:99:711,0,952	20	0	1	0
chr15	66329044	66329044	G	A	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon12:c.G1898A:p.R633H	.	.	438	1081	3	0	0	3	0.00138568	.	.	3185050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.815	L	1.19	T	-0.794	T	0.147	T	0.676	4.755	26.6	4.85	1.427	7.891	13.812	0.487	.	0.0089	0.00319489	0.0061	0.0028	0.0032	0.0001	0.0113	0.0085	0.0132	0.0009	0.0060737	939	154602	rs35711894	0.0098	0.0098	0.0100	0.0096	0.0115	0.0097	0.0096	0.0113	0.0112	0.0019	0.0042	7.653e-05	0.0001	0.0132	0.0031	0.0115	0.0085	0.0013	0.0068	0.0068	0.0072	0.0065	0.0103	0.0065	0.0064	0.0097	0.0094	0.0021	0.0011	0.0059	0	0	0.0131	0.0102	0.0103	0.0057	0.0017	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	N	0.099081	0.999986	0.54805	D	2.56	0.74772	M	1.19	0.37578	T	-4.3	0.76576	D	0.906	0.90704	-0.7945	0.55467	T	0.147	0.47201	T	10	0.02571261	0.00757	T	.	.	.	0.487	0.77528	.	.	0.639482846592	0.63651	0.7611553435207957	0.76063	0.776614367285	0.65069	0.479992300272	0.36056	T	0.157116	0.49958	T	-0.247185	0.14445	T	-0.120022	0.61801	T	0.0241250739628449	0.01160	T	0.974802	0.91047	D	0.7229834	0.79328	0.55674416	0.74361	0.7229834	0.79329	0.55674416	0.74362	-12.367	0.86592	D	.	.	0.257	0.49186	B	.;.	.;.	5.209472	0.87414	29.2	0.9995479155018	0.99969	0.98319	0.81588	D	AEFBI	0.906363	0.85905	D	0.610079142768646	0.73810	6.027608	0.561623813978131	0.72209	5.774009	0.999997531559574	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	5.76	4.85	0.62375	8.017000	0.88732	8.605000	0.77744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0734:0.0:0.9266:0.0	13.812	0.62762	657	0.62240	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2079.98	34	chr15	66329044	.	G	A	2079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=880;ExcessHet=0.0000;FS=3.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.915;SOR=0.997	GT:AD:DP:GQ:PL	0/1:71,83:154:99:2094,0,1551	20	0	1	0
chr15	74134789	74134791	GAA	-	exonic	ISLR2	.	nonframeshift deletion	ISLR2:NM_020851:exon3:c.2035_2037del:p.E679del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.324e-06	0	0	0	0	1.517e-05	0	0	3.84e-05	1	26028	rs780380190	4.105e-06	4.104e-06	4.084e-06	4.126e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-07	0	5.797e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1579.94	33	chr15	74134788	.	TGAA	T	1579.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.074e+00;DP=791;ExcessHet=0.0000;FS=6.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.57;ReadPosRankSum=-3.100e-02;SOR=1.104	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1594,0,1075	20	0	1	0
chr15	75689603	75689603	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1462A:p.A488T,	.	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.615	P	0.159	B	0.000	D	0.983	D	1.555	L	2.13	T	-1.091	T	0.042	T	0.417	0.690	7.683	5.12	2.375	3.620	13.061	0.174	.	.	0.00599042	0.0243	0.0096	0.0137	0.0200	0.0142	0.0332	0.0183	0.0128	0.0012679	33	26028	rs72732868	0.0008	0.0079	0.0008	0.0008	0.0082	0.0007	0.0007	0.0074	0.0072	0.0002	0.0003	0.0006	0.0082	0.0002	0.0009	0.0006	0.0006	0.0003	0.0007	0.0031	0.0006	0.0009	0.0111	0.0006	0.0006	0.0088	0.0080	0.0001	0	0.0004	0.0003	0.0111	0.0002	0	0.0005	0.0010	0.0008	0.194	0.20835	T	0.012	0.63918	D	0.615	0.39791	P	0.159	0.34693	B	0.000419	0.44736	D	0.093684	0.983141	0.39978	D	1.79	0.46772	L	2.13	0.19588	T	-0.83	0.22727	N	0.179	0.19325	-1.0915	0.05286	T	0.042	0.17910	T	10	0.0058493316	0.00131	T	.	.	.	0.174	0.44019	.	.	.	.	0.42678734187444106	0.42595	0.626776388847	0.56798	0.354917347431	0.18644	T	0.075735	0.35250	T	-0.143714	0.29299	T	-0.444211	0.28337	T	0.013029156001717	0.00227	T	0.729327	0.34443	T	0.08869844	0.20700	0.09523169	0.22578	0.08869844	0.20700	0.09523169	0.22577	-3.743	0.19955	T	.	.	0.206	0.43227	B	.	.	2.280329	0.29155	18.03	0.98388572036927513	0.40936	0.78470	0.38718	D	AEFBI	0.133191	0.25277	N	-0.0988076745998395	0.37445	2.178575	-0.056196607839385	0.37223	2.17657	0.997347920073087	0.35520	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	3.093000	0.49912	2.681000	0.34017	0.524000	0.24156	0.985000	0.35982	0.992000	0.31684	0.005000	0.06747	0.1615:0.8385:0.0:0.0	13.061	0.58419	162	0.93704	.	.	.	.	.	.	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	0.119	1383.43	40	chr15	75689603	.	C	T	1383.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.220e-01;DP=1187;ExcessHet=1.1607;FS=11.205;InbreedingCoeff=-0.1337;MLEAC=5;MLEAF=0.119;MQ=58.37;MQRankSum=-8.802e+00;QD=2.81;ReadPosRankSum=-2.432e+00;SOR=1.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,11:116:99:0|1:75689603_C_T:141,0,4376:75689603	16	0	5	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.513	P	0.079	B	0.000	D	0.953	N	1.79	L	2.14	T	-1.046	T	0.043	T	0.372	1.107	9.517	4.19	2.375	1.407	9.359	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	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	0.1667	1598.59	40	chr15	75689635	.	C	T	1598.59	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.980;DP=1516;ExcessHet=2.5830;FS=16.480;InbreedingCoeff=-0.2002;MLEAC=7;MLEAF=0.167;MQ=58.06;MQRankSum=-9.104e+00;QD=2.13;ReadPosRankSum=-1.467e+00;SOR=2.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,20:133:99:0|1:75689631_A_G:488,0,4648:75689631	14	0	7	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	4.01	H	-3.87	D	1.083	D	0.959	D	0.978	5.239	33	5.88	2.780	9.476	20.219	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box 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	0.09524	176.52	30	chr15	77470925	.	G	C	176.52	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.775e+00;DP=955;ExcessHet=0.6776;FS=359.107;InbreedingCoeff=-0.1149;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=0.794;SOR=10.021	GT:AD:DP:GQ:PL	0/1:45,19:64:99:119,0,854	17	0	4	0
chr15	82664439	82664439	G	C	exonic	AP3B2	.	nonsynonymous SNV	AP3B2:NM_001278511:exon17:c.C2036G:p.S679C	Epileptic encephalopathy, early infantile, 48, Autosomal recessive	.	402	1119	1	0	0	1	0.000446628	.	.	1349661	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.99	D	0.399	N	1.000	D	1.385	L	2.11	T	-1.026	T	0.124	T	0.704	4.562	24.7	5.48	2.580	6.231	19.355	0.306	0.046249960644	.	.	1.665e-05	0	0	0	0	1.504e-05	0	6.124e-05	1.29e-05	2	154602	rs761544331	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.169e-05	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.0	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.399255	0.13148	N	0.718467	1	0.81001	D	2.545	0.74286	M	2.11	0.19860	T	-3.1	0.66436	D	0.404	0.57348	-1.0256	0.21886	T	0.124	0.42799	T	10	0.45127985	0.58713	T	0.04625	0.62367	D	0.306	0.62729	0.282	0.23801	0.268702046668	0.26493	0.30205319513751383	0.30118	0.18710114538	0.21023	0.500965833664	0.38963	T	0.747871	0.93068	D	-0.0310761	0.47260	T	-0.185561	0.56006	T	0.924210965633392	0.58527	D	0.762724	0.39120	T	0.15779924	0.35536	0.14485954	0.34377	0.15779924	0.35535	0.14485954	0.34376	-11.516	0.83212	D	.	.	0.144	0.33800	B	.;.;.;.;.	.;.;.;.;.	4.504519	0.70489	25.5	0.9917198683643027	0.54412	0.83334	0.42459	D	AEFBCI	0.710498	0.66424	D	0.678778461446662	0.78243	6.832235	0.682671376981631	0.81063	7.440088	0.999998779216662	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	5.284000	0.65431	11.636000	0.93745	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	19.355	0.94398	516	0.74704	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1591.98	33	chr15	82664439	.	G	C	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.582e+00;DP=820;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-1.074e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:61,67:128:99:1606,0,1631	20	0	1	0
chr15	82762174	82762174	T	C	exonic	FSD2	.	nonsynonymous SNV	FSD2:NM_001281806:exon11:c.A1790G:p.D597G	.	.	427	1091	3	1	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.984	D	0.869	P	0.000	N	1.000	D	1.6	L	2.56	T	-1.165	T	0.062	T	0.42	3.728	18.93	4.49	0.968	4.614	10.518	0.155	0.0174971448793	.	.	3.872e-05	0	0.0001	0	0	3.438e-05	0.0013	0	2.59e-05	4	154602	rs753310052	3.217e-05	3.215e-05	2.86e-05	3.577e-05	0.0005	2.479e-05	2.221e-05	0.0001	7.541e-05	2.987e-05	2.24e-05	0	0	0	0.0005	3.238e-05	6.626e-05	2.323e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.046	0.40573	D	0.033	0.53072	D	0.984	0.60733	D	0.869	0.61749	P	0.000013	0.62929	N	0.144599	0.999565	0.47592	D	1.435	0.35949	L	2.56	0.13673	T	-1.61	0.40082	N	0.399	0.49965	-1.1655	0.00631	T	0.062	0.25851	T	10	0.41261163	0.56327	T	0.017497	0.39223	T	0.155	0.40530	0.689	0.82653	0.339316883193	0.33537	0.5476190666361904	0.54687	0.109937438986	0.12399	0.373983383179	0.21402	T	0.029528	0.21136	T	-0.267194	0.12071	T	-0.445735	0.28169	T	0.142419087776516	0.16481	T	0.670833	0.27951	T	0.19994207	0.41952	0.230026	0.48092	0.19994207	0.41952	0.230026	0.48091	-5.794	0.44522	T	.	.	0.089	0.11989	B	.;.	.;.	4.450217	0.69175	25.3	0.99827553470316432	0.90939	0.95847	0.66408	D	AEFBI	0.623179	0.60722	D	0.265803155512898	0.54424	3.608044	0.273588582815854	0.54003	3.566661	0.999943937685051	0.47345	0.554377	0.28877	0	0.446627	0.06534	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.6	4.49	0.54177	4.377000	0.59330	4.895000	0.45803	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.845000	0.39915	0.0:0.0756:0.0:0.9244	10.518	0.44088	505	0.75648	SPRY domain|B30.2/SPRY domain|SPRY domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2282.98	35	chr15	82762174	.	T	C	2282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=916;ExcessHet=0.0000;FS=0.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-6.500e-02;SOR=0.733	GT:AD:DP:GQ:PL	0/1:135,97:232:99:2297,0,3318	20	0	1	0
chr15	82833303	82833303	C	T	exonic	WHAMM	.	nonsynonymous SNV	WHAMM:NM_001080435:exon10:c.C2197T:p.R733C,	.	.	427	1090	4	1	0	6	0.00274474	.	.	3352741	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.001	B	0.135	N	1.000	N	0.55	N	1.5	T	-1.063	T	0.042	T	0.145	1.808	12.01	-2.79	-0.967	-1.419	1.976	0.008	0.00576841700083	.	.	5.065e-05	0	8.842e-05	0	0	4.571e-05	0.0012	6.204e-05	3.88e-05	6	154602	rs773987785	4.721e-05	4.788e-05	5.037e-05	4.401e-05	0.0019	3.794e-05	3.476e-05	0.0011	0.0008	0	6.71e-05	0	0	0	0.0019	4.227e-05	8.282e-05	3.479e-05	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.88e-05	0	0.0002	0.138	0.25873	T	0.106	0.37872	T	0.001	0.07471	B	0.001	0.04355	B	0.135241	0.02841	N	1.710450	1	0.08975	N	0.345	0.11182	N	1.5	0.31205	T	-0.35	0.12847	N	0.101	0.08366	-1.0627	0.11093	T	0.042	0.18118	T	10	0.041779816	0.02864	T	0.005768	0.14982	T	0.008	0.00669	0.366	0.37361	0.0551355673512	0.04727	0.2563105283441904	0.25545	0.048581699779	0.05306	0.245812684298	0.03339	T	0.00173	0.01158	T	-0.476258	0.00778	T	-0.685219	0.06669	T	0.158006504178047	0.17722	T	0.364564	0.08467	T	0.13169889	0.30689	0.03209016	0.01891	0.13169889	0.30689	0.03209016	0.01891	-4.981	0.36633	T	.	.	0.077	0.06387	B	.	.	0.545929	0.09146	5.928	0.93297445759726894	0.23008	0.09112	0.14933	N	AEFDBCIJ	0.086482	0.17534	N	-1.35656207942603	0.03058	0.1359855	-1.40059141483624	0.03246	0.1510549	0.999997249065048	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.679469	0.61720	0	0.662433	0.64102	0	.	.	5.24	-2.79	0.05494	-1.272000	0.02933	-1.588000	0.05111	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1123:0.4116:0.2183:0.2578	1.976	0.03209	.	.	.	.	.	.	.	.	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	2866.98	37	chr15	82833303	.	C	T	2866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=897;ExcessHet=0.0000;FS=8.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-1.137e+00;SOR=1.220	GT:AD:DP:GQ:PL	0/1:93,107:200:99:2881,0,2239	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	0/1:66,14,3:83:99:99,0,1556,268,1454,1881	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	1/1:0,2,0:2:6:.:.:49,6,0,49,6,49	7	2	1	9
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C,	.	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	0.994	N	.	.	2.4	T	-1.009	T	0.036	T	0.204	0.413	6.242	0.762	0.748	-0.343	4.972	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Uncertain significance	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	0.125	792.36	32	chr15	84240189	.	C	T	792.36	.	AC=5;AF=0.125;AN=40;BaseQRankSum=0.769;DP=806;ExcessHet=1.1607;FS=14.484;InbreedingCoeff=-0.1535;MLEAC=5;MLEAF=0.125;MQ=35.38;MQRankSum=-2.890e-01;QD=4.48;ReadPosRankSum=0.367;SOR=1.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,7:33:99:0|1:84240188_A_G:220,0,564:84240188	15	0	5	1
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:116,0,37:153:99:.:.:946,1281,5287,0,4006,3889	8	0	5	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	1/1:0,112,0:112:99:3838,336,0,3838,336,3838	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	0/1:112,29:141:41:41,0,2748	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	0/1:33,35,0,0:68:99:1232,0,1212,1333,1317,2650,1333,1317,2650,2650	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	0/1:33,35,0,0:68:99:1232,0,1212,1333,1317,2650,1333,1317,2650,2650	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	0/1:33,35,0,0:68:99:1232,0,1212,1333,1317,2650,1333,1317,2650,2650	8	0	10	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,23,23:46:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1981,949,884,955,0,926:89776889	0	0	0	0
chr15	90241611	90241611	A	T	exonic	GDPGP1	.	nonsynonymous SNV	GDPGP1:NM_001013657:exon4:c.A703T:p.S235C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.964	D	0.000	D	1.000	N	1.63	L	1.94	T	-1.008	T	0.100	T	0.496	2.736	15.11	5.95	2.279	3.549	10.403	0.138	0.0134965395382	7.7e-05	.	4.128e-05	0	8.648e-05	0	0	6.011e-05	0	0	3.23e-05	5	154602	rs147678028	4.105e-05	4.104e-05	4.221e-05	3.988e-05	0.0001	3.245e-05	2.92e-05	4.358e-05	2.767e-05	0	0.0001	0.0007	0	0	0	3.147e-05	1.656e-05	0	3.284e-05	3.283e-05	2.569e-05	4.034e-05	6.54e-05	1.261e-05	7.98e-06	.	.	0	0	6.54e-05	0.0009	0	0	0	0	0.0005	0	0.049	0.39820	D	0.076	0.42614	T	1.0	0.90584	D	0.964	0.71005	D	0.000117	0.50451	D	0.179711	0.99998	0.18612	N	1.935	0.51832	L	1.94	0.22678	T	-1.64	0.39314	N	0.269	0.39356	-1.0081	0.27510	T	0.100	0.37085	T	10	0.14982083	0.28348	T	0.013497	0.32951	T	0.138	0.37187	.	.	0.49590494691	0.49224	0.7105283111398882	0.70994	0.537173882825	0.51028	0.409538120031	0.26393	T	0.004431	0.03837	T	-0.235282	0.15957	T	-0.399896	0.33397	T	0.214057465870237	0.21163	T	0.741226	0.36032	T	0.09761202	0.23013	0.08697518	0.20187	0.09761202	0.23012	0.08697518	0.20186	-3.085	0.11125	T	.	.	0.125	0.26482	B	.;.	.;.	2.999672	0.40076	21.1	0.96619056349027754	0.30473	0.90016	0.50870	D	AEFBHCI	0.250811	0.37080	N	0.408023420422923	0.61862	4.393235	0.344971347273759	0.58206	3.989736	1.0	0.98316	0.554377	0.28877	0	0.588066	0.40923	0	0.612816	0.40813	0	0.567892	0.33627	0	.	.	5.95	5.95	0.96415	3.558000	0.53494	11.107000	0.86243	0.756000	0.94297	0.983000	0.35670	1.000000	0.68203	0.020000	0.11549	0.9238:0.0:0.0762:0.0	10.403	0.43428	662	0.61715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2127.98	36	chr15	90241611	.	A	T	2127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.745e+00;DP=1111;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=0.136;SOR=0.582	GT:AD:DP:GQ:PL	0/1:41,73:114:99:2142,0,1187	20	0	1	0
chr15	100983589	100983589	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon4:c.G323A:p.S108N,	.	.	9	1507	6	0	0	6	0.00198675	.	.	1508802	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.095	B	0.023	B	0.047	N	1.000	N	1.14	L	-0.05	T	-1.016	T	0.139	T	0.026	1.420	10.69	3.67	1.410	3.379	7.735	0.094	0.0175183154159	0.0002	.	6.626e-05	0	0	0	0	0.0001	0	6.056e-05	5.82e-05	9	154602	rs202052348	8.699e-05	8.961e-05	7.769e-05	9.638e-05	0.0005	7.43e-05	6.978e-05	0.0001	7.55e-05	0	0	0.0004	0	0	0.0005	9.273e-05	8.292e-05	6.971e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.579e-05	6.283e-05	0.0001	8.876e-05	2.414e-05	0	6.543e-05	0.0006	0	0	0	0.0002	0.0005	0	0.347	0.21801	T	0.087	0.40747	T	0.014	0.25437	B	0.023	0.19966	B	0.046568	0.23426	N	0.395801	0.999923	0.19486	N	1.32	0.33002	L	-0.05	0.63403	T	-0.28	0.25551	N	0.15	0.18784	-1.0165	0.24852	T	0.139	0.45678	T	10	0.0711461	0.10449	T	0.017518	0.39251	T	0.094	0.27141	.	.	0.737560557814	0.73521	0.11642382319556138	0.11570	0.40056367643	0.41057	0.284676104784	0.08153	T	0.019237	0.15365	T	-0.412051	0.01926	T	-0.592991	0.13408	T	0.0247764471788347	0.01243	T	0.776522	0.44372	T	0.024447296	0.01277	0.04369911	0.05494	0.024447296	0.01277	0.04369911	0.05494	-5.209	0.39705	T	.	.	0.102	0.20117	B	.;.	.;.	1.454794	0.18762	13.91	0.95641405342607844	0.27441	0.55218	0.29809	D	AEFGBI	0.043419	0.06861	N	-0.549664044128928	0.20494	1.080773	-0.446889590946287	0.23636	1.290078	0.999961745742374	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.71	3.67	0.41236	3.410000	0.52417	1.824000	0.29063	-0.244000	0.07312	0.998000	0.41325	0.928000	0.28476	0.014000	0.10232	0.3425:0.537:0.1205:0.0	7.735	0.27973	871	0.31377	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1526.98	33	chr15	100983589	.	G	A	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.686;DP=894;ExcessHet=0.0000;FS=5.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.28;SOR=0.368	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1541,0,1800	20	0	1	0
chr16	180511	180511	G	T	exonic	HBQ1	.	nonsynonymous SNV	HBQ1:NM_005331:exon1:c.G25T:p.A9S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.026	B	0.078	B	0.752	U	1.000	N	0.495	N	-3.22	D	-0.387	T	0.599	D	0.095	1.815	12.03	1.86	0.499	1.802	7.314	0.176	0.333311717718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.252e-07	3.42e-06	0	1.47e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.12878	T	0.483	0.11795	T	0.026	0.19406	B	0.078	0.28627	B	0.751582	0.06488	U	1.143940	1	0.08975	N	1.505	0.38159	L	-3.22	0.93352	D	-0.64	0.18670	N	0.045	0.01740	-0.3870	0.72436	T	0.599	0.85731	D	10	0.18751019	0.34264	T	0.333312	0.91813	D	0.176	0.44373	0.572	0.69564	0.780641916088	0.77862	0.0965153003216115	0.09583	0.69460362791	0.60773	0.782942056656	0.79372	T	0.070703	0.34025	T	-0.0552241	0.43650	T	-0.317102	0.42892	T	0.119933694601059	0.14423	T	0.537446	0.18074	T	0.13701132	0.31741	0.09909079	0.23647	0.13701132	0.31741	0.09909079	0.23646	-3.781	0.20521	T	.	.	0.090	0.12560	B	.	.	1.968235	0.25002	16.60	0.88337671163332887	0.17898	0.31888	0.24450	N	ALL	0.098489	0.19845	N	-0.93358322928162	0.10064	0.4791643	-0.957410311459958	0.10751	0.5435174	0.999999999969038	0.74766	0.652421	0.48094	0	0.858003	0.99906	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	2.84	1.86	0.24489	0.966000	0.28929	1.623000	0.27698	0.649000	0.52879	0.001000	0.13787	0.005000	0.19230	0.061000	0.16044	0.1414:0.0:0.8586:0.0	7.314	0.25665	809	0.43032	Globin|Globin	.	.	.	.	.	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	608.98	39	chr16	180511	.	G	T	608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.110e-01;DP=732;ExcessHet=0.0000;FS=4.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-7.760e-01;SOR=0.255	GT:AD:DP:GQ:PL	0/1:20,26:46:99:623,0,485	20	0	1	0
chr16	190022	190022	C	T	exonic	LUC7L	.	nonsynonymous SNV	LUC7L:NM_001320226:exon9:c.G920A:p.R307Q	.	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.003	B	0.001	B	0.000	D	0.999	D	2.395	M	2.7	T	-0.888	T	0.173	T	0.216	3.641	18.52	4.2	1.169	5.035	12.609	0.104	.	.	0.000399361	0.0005	0	0.0002	0	0	0.0001	0.0156	0.0026	0.0004398	68	154602	rs561704484	0.0003	0.0003	0.0002	0.0005	0.0032	0.0003	0.0003	0.0029	0.0028	0	0.0002	0	0	5.623e-05	0.0003	0.0002	0.0004	0.0032	8.54e-05	8.531e-05	6.428e-05	0.0001	0.0015	4.956e-05	3.962e-05	0.0007	0.0005	2.407e-05	0	0	0	0.0002	0	0	1.471e-05	0.0014	0.0015	0.035	0.47745	D	0.054	0.63918	T	0.003	0.11197	B	0.001	0.04355	B	0.000155	0.49130	D	0.205916	0.999149	0.46174	D	2.16	0.60381	M	0.86	0.54347	T	-1.67	0.39887	N	0.502	0.53445	-0.8884	0.49071	T	0.173	0.51516	T	10	0.012109995	0.00262	T	.	.	.	0.104	0.29647	.	.	0.610288044756	0.60715	0.2878297271079481	0.28695	0.650987366695	0.58360	0.596105992794	0.52355	T	0.241057	0.60951	T	-0.458102	0.01010	T	-0.433545	0.29534	T	0.0582932331170721	0.06897	T	0.916808	0.70203	D	0.14756504	0.33729	0.101090446	0.24192	0.14756504	0.33728	0.101090446	0.24191	-7.95	0.63102	D	.	.	0.160	0.48188	B	.;.;.;.;.	.;.;.;.;.	4.080198	0.60688	24.2	0.99765081203213823	0.85417	0.99073	0.90830	D	AEFGBI	0.664310	0.63352	D	-0.00911072999460116	0.41443	2.478901	0.112600298516429	0.45193	2.786761	0.99999641162893	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	4.2	0.48814	5.312000	0.65579	4.757000	0.44693	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9197:0.0:0.0803	12.609	0.55899	830	0.39242	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	34	chr16	190022	.	C	T	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-02;DP=790;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-3.500e-02;SOR=0.743	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1106,0,1116	20	0	1	0
chr16	1079584	1079584	G	A	exonic	SSTR5	.	nonsynonymous SNV	SSTR5:NM_001053:exon1:c.G716A:p.R239Q	Somatostatin analog, resistance to (3), Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.985	D	0.000	D	1.000	N	1.515	L	0.95	T	-0.690	T	0.209	T	0.473	2.609	14.69	4.76	2.202	5.843	16.746	0.294	0.0569555084875	.	.	4.29e-05	0	8.864e-05	0.0001	0	3.13e-05	0	6.187e-05	3.23e-05	5	154602	rs769269974	2.193e-05	2.326e-05	2.046e-05	2.343e-05	0.0002	1.587e-05	1.359e-05	0.0001	0.0001	0	4.486e-05	0	5.045e-05	0	0	7.202e-06	1.66e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.005	0.63226	D	0.045	0.49390	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.66	0.16226	N	0.95	0.43279	T	-1.95	0.45222	N	0.323	0.36359	-0.6898	0.60917	T	0.209	0.56826	T	10	0.5288798	0.63068	D	0.056956	0.66792	D	0.294	0.61388	.	.	0.661789245089	0.65895	0.4365898396261131	0.43575	0.789193365158	0.65685	0.510379433632	0.40275	T	0.177243	0.52747	T	-0.259228	0.12991	T	-0.373471	0.36483	T	0.236194387078285	0.22243	T	0.855714	0.54342	D	0.6372826	0.74686	0.41037259	0.65299	0.6372826	0.74687	0.41037259	0.65299	-1.723	0.02290	T	.	.	0.136	0.29642	B	.	.	5.172849	0.86713	29.0	0.99887630209126488	0.96204	0.72601	0.35530	D	AEFBCI	0.483847	0.52411	N	0.404260524082208	0.61655	4.369645	0.309774832582284	0.56114	3.774322	0.999838859472644	0.43792	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.76	4.76	0.60189	4.962000	0.63395	8.475000	0.77283	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.746	0.85333	958	0.09170	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	1870.98	73	chr16	1079584	.	G	A	1870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1554;ExcessHet=0.0000;FS=1.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-5.970e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1885,0,1998	20	0	1	0
chr16	1218513	1218513	C	T	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon32:c.C5731T:p.R1911C	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	726413	Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.034	U	0.703	N	1.625	L	-4.43	D	0.518	D	0.930	D	0.439	2.640	14.79	4.04	2.357	1.194	9.377	0.398	.	.	0.00239617	0.0028	0	0.0021	0	0	0	0.0052	0.0072	0.0005951	92	154602	rs552691524	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	0	5.544e-05	0	5.556e-05	2.077e-05	0.0007	6.475e-06	0.0004	0.0065	0.0003	0.0003	0.0002	0.0005	0.0093	0.0003	0.0002	0.0072	0.0064	0	0	0.0002	0	0	0	0	2.94e-05	0	0.0093	0.001	0.78490	D	0.004	0.74150	D	0.999	0.90584	D	0.719	0.63802	P	0.034173	0.01782	U	3.319480	0.70344	0.30081	N	2.545	0.74286	M	-4.48	0.97606	D	-4.88	0.81350	D	0.562	0.67564	0.518	0.90803	D	0.930	0.97679	D	10	0.008921921	0.00202	T	.	.	.	0.398	0.71242	0.395	0.42099	0.949360324624	0.94882	0.4723891998403772	0.47157	.	.	0.64292550087	0.58980	T	0.646295	0.89212	D	-0.116752	0.33656	T	0.0635228	0.74478	D	0.138778761048033	0.16170	T	0.919908	0.71037	D	0.30532166	0.53378	0.19039263	0.42440	0.33645317	0.55995	0.16624339	0.38414	-9.62	0.71603	D	0.29008795351321365	0.38653	0.188	0.44834	B	.;.;.;.	.;.;.;.	4.782390	0.77526	26.7	0.99904510166658189	0.97576	0.38419	0.25984	N	AEFDBCI	0.223979	0.34826	N	0.268179766848634	0.54544	3.619637	0.186765535433201	0.49122	3.119213	0.077509986720715	0.15761	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	4.04	0.46262	2.460000	0.44689	3.892000	0.40300	0.599000	0.40250	0.981000	0.35396	0.999000	0.35428	0.352000	0.25704	0.161:0.6831:0.1559:0.0	9.377	0.37451	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	2979.98	42	chr16	1218513	.	C	T	2979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.948;DP=1162;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=1.87;SOR=0.737	GT:AD:DP:GQ:PL	0/1:84,116:200:99:2994,0,1857	20	0	1	0
chr16	1338665	1338665	C	G	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon2:c.C116G:p.P39R	.	.	420	1100	1	1	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.888	N	0.808	N	1.7	L	-1.03	T	-0.143	T	0.657	D	0.441	2.694	14.97	3.74	1.084	1.101	11.197	0.284	0.249169989165	.	0.000199681	0.0008	0	0	0	0	0	0.0028	0.0033	0.0002781	43	154602	rs534123581	0.0001	0.0001	5.398e-05	0.0002	0.0019	0.0001	9.535e-05	0.0017	0.0016	0	0	0	0	0	0	9.093e-07	0.0001	0.0019	6.565e-05	6.561e-05	5.14e-05	8.055e-05	0.0014	3.514e-05	2.614e-05	0.0007	0.0005	2.406e-05	0	0	0	0	0	0.0034	0	0.0005	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.888300	0.08705	N	0.946095	0.808151	0.29034	N	2.505	0.72935	M	-1.03	0.92829	T	-2.11	0.57435	N	0.396	0.49602	-0.1426	0.79101	T	0.657	0.88092	D	10	0.014235109	0.00300	T	0.24917	0.89040	D	0.284	0.60219	0.199	0.11247	0.87612316629	0.87491	0.28862324165579284	0.28775	0.347362746263	0.36628	0.488053053617	0.37169	T	0.021852	0.16945	T	-0.170804	0.25112	T	-0.0249084	0.68706	D	0.180117272361428	0.19243	T	0.810219	0.47089	T	0.13220379	0.30791	0.30355772	0.56386	0.13220379	0.30791	0.30355772	0.56385	-4.43	0.30136	T	.	.	0.092	0.16756	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.444258	0.47929	22.5	0.98699066081550135	0.44881	0.43392	0.27088	N	AEFDBCI	0.227346	0.35117	N	-0.420573145578364	0.24749	1.338546	-0.474849070481123	0.22849	1.243123	0.45606087003721	0.20583	0.646311	0.45356	0	0.657636	0.61667	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.71	3.74	0.42108	2.646000	0.46296	3.865000	0.40157	0.549000	0.26987	0.896000	0.31333	0.999000	0.35428	0.012000	0.09680	0.0:0.8136:0.1864:0.0	11.197	0.47947	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	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	1032.98	37	chr16	1338665	.	C	G	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.272e+00;DP=825;ExcessHet=0.0000;FS=10.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-3.260e-01;SOR=0.292	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1047,0,1233	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,13,18:31:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:2732,770,648,610,0,401:1397263	1	6	3	5
chr16	1432705	1432707	GAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.112_114del:p.E47del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:11,8,0,0:19:99:297,0,426,330,450,780,330,450,780,780	12	1	6	0
chr16	1432707	1432707	-	GAG	exonic	PERCC1	.	nonframeshift insertion	PERCC1:NM_001365310:exon2:c.114_115insGAG:p.E47_G48insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:11,8,0,0:19:99:297,0,426,330,450,780,330,450,780,780	12	1	6	0
chr16	1809341	1809341	A	G	exonic	HAGH	.	nonsynonymous SNV	HAGH:NM_005326:exon9:c.T869C:p.V290A	.	.	12	1452	54	4	0	62	0.0209036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.271	B	0.118	B	0.179	N	1.000	D	1.245	L	-3.73	D	0.322	D	0.690	D	0.652	3.286	17.04	4.98	2.003	8.358	14.132	0.568	.	0.0014	0.00599042	0.0047	9.653e-05	0.0013	0	0	0.0028	0.0066	0.0216	0.0041785	646	154602	rs151314474	0.0026	0.0026	0.0019	0.0033	0.0199	0.0025	0.0025	0.0191	0.0188	0.0003	0.0018	0.0121	2.519e-05	3.777e-05	0.0135	0.0012	0.0039	0.0199	0.0022	0.0022	0.0019	0.0026	0.0230	0.0021	0.0020	0.0195	0.0182	0.0003	0	0.0021	0.0098	0	0	0.0034	0.0020	0.0066	0.0230	0.325	0.25873	T	0.269	0.26226	T	0.271	0.31796	B	0.118	0.32088	B	0.179333	0.17147	N	0.556675	0.99999	0.81001	D	1.365	0.34158	L	-3.73	0.95458	D	-3.88	0.72710	D	0.234	0.53181	0.322	0.87901	D	0.690	0.89309	D	10	0.006383598	0.00144	T	.	.	.	0.568	0.82403	.	.	0.853297744544	0.85188	0.6005269816842213	0.59983	0.256767550364	0.28246	0.555836677551	0.46680	T	0.343914	0.71250	T	-0.0816589	0.39443	T	0.126846	0.78686	D	0.0902594041854258	0.11249	T	0.926607	0.72946	D	0.1953377	0.41318	0.30353233	0.56384	0.1953377	0.41318	0.30353233	0.56383	-9.225	0.69134	D	.	.	0.234	0.47382	B	.;.;.	.;.;.	4.108763	0.61322	24.3	0.9770966708406994	0.35489	0.95170	0.63696	D	AEFDBHCI	0.892467	0.82943	D	-0.0176703182364091	0.41055	2.448988	0.0806842467433379	0.43578	2.656657	0.999995011632823	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	8.375000	0.90028	9.197000	0.79161	0.756000	0.94297	0.972000	0.34453	1.000000	0.68203	0.038000	0.14061	1.0:0.0:0.0:0.0	14.132	0.64790	588	0.69043	Hydroxyacylglutathione hydrolase, C-terminal domain;Hydroxyacylglutathione hydrolase, C-terminal domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1513.98	41	chr16	1809341	.	A	G	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.058e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=1.36;SOR=0.656	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1528,0,1537	20	0	1	0
chr16	2064405	2064405	G	C	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon12:c.G977C:p.S326T	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	203117	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Tuberous_sclerosis_2|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.975	D	0.937	D	0.000	D	1.000	D	1.95	M	-0.27	T	-0.394	T	0.403	T	0.706	3.317	17.15	4.61	1.340	7.903	14.722	0.267	0.0448054287781	.	.	6.617e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs376573446	5.132e-05	5.13e-05	4.902e-05	5.365e-05	6.385e-05	4.193e-05	3.825e-05	5.161e-05	4.738e-05	2.987e-05	2.236e-05	0	0	0	0	6.385e-05	3.312e-05	0	0.0002	0.0002	0.0002	0.0002	8.818e-05	0.0001	0.0001	3.761e-05	2.575e-05	0	0.0263	0	0	0	0	0	8.818e-05	0	0	0.113	0.34095	T	0.012	0.64786	D	0.975	0.58077	D	0.937	0.67262	D	0.000000	0.84330	D	0.040721	0.999999	0.58761	D	2.08	0.57402	M	-0.27	0.67367	T	-1.74	0.41239	N	0.651	0.69125	-0.3944	0.72203	T	0.403	0.75345	T	10	0.016540289	0.00349	T	0.044805	0.61671	D	0.267	0.58126	0.438	0.49157	0.722460117132	0.72001	0.18335749553136818	0.18254	.	.	0.744692802429	0.73663	T	0.54104	0.84286	D	-0.00646759	0.50759	T	-0.0317317	0.68253	D	0.193655942369766	0.20057	T	0.831017	0.49766	T	0.437874	0.63264	0.19635601	0.43361	0.437874	0.63265	0.19635601	0.43360	-8.33	0.64449	D	0.3425110431151143	0.44018	0.168	0.43517	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.201872	0.63414	24.6	0.9772580313511543	0.35585	0.99141	0.91831	D	AEFBI	0.921459	0.89498	D	0.161171440323222	0.49343	3.135702	0.266771423985663	0.53608	3.529057	0.999986085489541	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.57	4.61	0.56724	8.073000	0.89297	8.569000	0.77598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.07:0.0:0.93:0.0	14.722	0.68932	735	0.53711	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.02381	2259.98	34	chr16	2064405	.	G	C	2259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.053e+00;DP=889;ExcessHet=0.0000;FS=1.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.492;SOR=0.777	GT:AD:DP:GQ:PL	0/1:109,92:201:99:2274,0,2961	20	0	1	0
chr16	2496440	2496440	A	G	exonic	TBC1D24	.	nonsynonymous SNV	TBC1D24:NM_001199107:exon2:c.A292G:p.N98D	DOOR syndrome, Autosomal recessive;Deafness , autosomal recessive 86, Autosomal recessive;Deafness, autosomal dominant 65, Autosomal dominant;Epileptic encephalopathy, early infantile, 16, Autosomal recessive;Myoclonic epilepsy, infantile, familial, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.004	B	0.005	B	0.000	D	0.955	N	-0.41	N	1.95	T	-0.983	T	0.020	T	0.024	0.910	8.702	3.33	0.962	1.407	8.056	0.069	0.00682597880055	.	.	3.361e-05	0	0	0	0.0005	0	0.0011	0	2.59e-05	4	154602	rs759779506	1.233e-05	1.231e-05	1.227e-05	1.239e-05	.	7.7e-06	6.36e-06	.	.	0	0	0	0	0.0003	0	0	0	0	3.284e-05	3.283e-05	0	6.722e-05	.	1.26e-05	7.98e-06	.	.	0	0	0	0	0	0.0005	0	0	0	0	0.612	0.05618	T	0.991	0.03152	T	0.003	0.12183	B	0.003	0.11217	B	0.000022	0.55875	D	0.155742	0.954891	0.26353	N	0.145	0.08828	N	1.93	0.32238	T	0.19	0.04947	N	0.088	0.06587	-0.9829	0.34328	T	0.020	0.08220	T	10	0.059258193	0.07096	T	0.006826	0.18037	T	0.069	0.20116	0.504	0.59770	0.474876406573	0.47116	0.5983096936542495	0.59761	0.382782754589	0.53457	0.605589985847	0.53693	T	0.002883	0.02278	T	-0.344571	0.05078	T	-0.732729	0.04205	T	0.0597185678780079	0.07125	T	0.820618	0.47957	T	0.07579285	0.17098	0.11065208	0.26682	0.07579285	0.17098	0.11065208	0.26681	-4.063	0.25951	T	0.09057102757234856	0.05655	0.062	0.02993	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.740032	0.22144	15.50	0.9479623689979666	0.25540	0.55630	0.29912	D	AEFDBI	0.109675	0.21776	N	-0.55213477398623	0.20418	1.076138	-0.320187761491225	0.27446	1.523085	0.267541172196447	0.18857	0.617157	0.39670	1	0.653731	0.59785	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	5.6	3.33	0.37245	1.434000	0.34567	3.903000	0.40362	0.734000	0.85920	0.952000	0.33172	1.000000	0.68203	0.952000	0.50033	0.7677:0.0:0.2323:0.0	8.056	0.29769	706	0.57215	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	2594.98	34	chr16	2496440	.	A	G	2594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.888;DP=931;ExcessHet=0.0000;FS=2.253;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.648;SOR=0.701	GT:AD:DP:GQ:PL	0/1:123,104:227:99:2609,0,3127	20	0	1	0
chr16	2798500	2798500	G	0	exonic	PRSS41	.	.	.	.	.	406	1042	59	5	10	79	0.0320483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	451.16	15	chr16	2798500	.	G	T,*	451.16	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=1.05;DP=364;ExcessHet=0.0000;FS=1.494;InbreedingCoeff=0.6325;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.218;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,18:18:55:.:.:811,811,811,55,55,0	19	0	1	0
chr16	3308689	3308689	A	G	exonic	ZNF75A	.	nonsynonymous SNV	ZNF75A:NM_001302109:exon2:c.A261G:p.I87M	.	.	936	583	2	1	0	4	0.0034188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs530992366	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0006	0.0005	6.218e-05	0	0	0	0	0.0006	0.0001	0.0005	0.0010	0.0002	0.0002	3.854e-05	0.0003	0.0025	0.0001	9.232e-05	0.0014	0.0011	0	0	6.537e-05	0.0003	0	0	0	0.0001	0	0.0025	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.655	0.66529	.	.	.	.	.	.	.	0.1594382	0.29957	T	.	.	.	.	.	.	.	0.400468435593	0.39662	.	.	.	.	.	.	.	0.107769	0.42024	T	-0.113997	0.34108	T	-0.401525	0.33206	T	.	.	.	0.745225	0.36553	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31882	B	.	.	2.410259	0.30976	18.60	0.82952905494435003	0.14463	0.33695	0.24890	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0949546519968265	0.16216	0.359288	0.05646	0	0.340432	0.05866	0	0.320204	0.05785	0	0.221052	0.04502	0	0.373345	0.36908	4.52	1.32	0.20897	0.007000	0.13074	.	.	0.756000	0.94297	0.249000	0.24839	0.001000	0.17328	0.968000	0.53726	0.2647:0.5102:0.0:0.2251	3.515	0.07282	774	0.48577	SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1452.98	33	chr16	3308689	.	A	G	1452.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=821;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.680;SOR=0.872	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1467,0,1983	20	0	1	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I	Rubinstein-Taybi syndrome 1, Autosomal dominant	YES	1	1445	71	5	0	81	0.0272635	.	.	100926	Inborn_genetic_diseases|not_specified|Rubinstein-Taybi_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.604	P	0.369	B	0.000	D	1.000	D	1.28	L	-1.75	D	-0.226	T	0.400	T	0.54	2.237	13.44	5.49	2.578	5.707	19.361	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.119	9875.44	33	chr16	3781229	.	G	T	9875.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.200e-01;DP=1574;ExcessHet=1.1607;FS=1.168;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.238;SOR=0.839	GT:AD:DP:GQ:PL	0/1:159,89:248:99:2192,0,4338	16	0	5	0
chr16	4509433	4509433	G	C	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon4:c.G631C:p.A211P	.	.	423	1087	11	1	0	13	0.00594422	.	.	2197304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.938	P	0.142	B	0.002	N	0.797	N	1.61	L	1.93	T	-0.999	T	0.040	T	0.625	3.440	17.64	4.36	1.482	2.800	6.818	0.076	0.00928104646333	0.0006	0.000998403	0.0007	0.0003	0.0003	0	0	0.0011	0.0011	0.0005	0.000705	109	154602	rs149714752	0.0007	0.0007	0.0006	0.0008	0.0069	0.0007	0.0007	0.0052	0.0046	0.0007	0.0006	0.0070	0	0.0001	0.0069	0.0006	0.0012	0.0007	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0005	0.0004	0.0001	0	0.0007	0.0058	0	0	0.0068	0.0006	0.0014	0.0008	0.127	0.27080	T	0.069	0.46182	T	0.938	0.52538	P	0.142	0.33681	B	0.001916	0.37691	N	0.311936	0.797064	0.29159	N	2.35	0.67516	M	1.93	0.22881	T	-1.27	0.31981	N	0.546	0.57263	-0.9992	0.30143	T	0.040	0.17404	T	10	0.008799285	0.00199	T	0.009281	0.24366	T	0.076	0.22200	.	.	0.384252928164	0.38032	0.7363986177957625	0.73584	0.201851073851	0.22596	0.376824975014	0.21805	T	0.395825	0.75461	T	-0.322666	0.06682	T	-0.310378	0.43618	T	0.0144720432120896	0.00294	T	0.811219	0.46271	T	0.4498263	0.64030	0.3063525	0.56660	0.4498263	0.64030	0.3063525	0.56659	-3.845	0.23038	T	.	.	0.653	0.71063	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.506315	0.49079	22.7	0.99684453226970837	0.79507	0.87810	0.47478	D	AEFDBCI	0.912970	0.87431	D	0.181232075835268	0.50298	3.22118	0.220786183200403	0.51001	3.286616	0.999995448483458	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	4.36	0.51643	2.891000	0.48316	5.815000	0.50038	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.2558:0.0:0.7442:0.0	6.818	0.23027	520	0.74355	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	2713.11	37	chr16	4509433	.	G	C	2713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.626;DP=923;ExcessHet=0.1072;FS=7.407;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=2.22;SOR=0.367	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1416,0,974	19	0	2	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	0/1:57,41:98:99:1543,0,2229	18	0	3	0
chr16	11491742	11491742	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon13:c.C1688T:p.A563V,	.	.	945	563	10	4	0	18	0.0157343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0007	0	0	0	.	0	0	0.0089	4.53e-05	7	154602	rs554817595	0.0004	0.0003	0.0004	0.0004	0.0062	0.0004	0.0003	0.0031	0.0022	0.0001	0.0004	0.0002	0	0	0.0062	0.0005	0.0008	0.0023	0.0004	0.0004	0.0003	0.0005	0.0039	0.0003	0.0003	0.0026	0.0021	0	0	0.0009	0	0	0	0.0034	0.0004	0.0005	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.842706	0.35093	D	.	.	.	-0.37	0.68892	T	.	.	.	.	.	.	.	.	.	.	.	.	0.0057389736	0.00128	T	.	.	.	.	.	.	.	0.475272412942	0.47157	.	.	.	.	.	.	.	.	.	.	-0.0678414	0.41671	T	-0.335226	0.40885	T	.	.	.	0.577542	0.20782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16187	B	.	.	1.860957	0.23640	16.09	0.98527642356406797	0.42545	0.15646	0.19013	N	AEFBCI	0.070981	0.14111	N	.	.	.	.	.	.	0.421756412851524	0.20297	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.567892	0.33627	0	.	.	4.47	2.46	0.29032	1.293000	0.32959	3.287000	0.37275	0.618000	0.50648	0.160000	0.23797	0.994000	0.32194	0.625000	0.32026	0.1:0.1878:0.5408:0.1714	3.153	0.06106	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	678.98	35	chr16	11491742	.	G	A	678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.579e+00;DP=777;ExcessHet=0.0000;FS=2.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.40;SOR=1.074	GT:AD:DP:GQ:PL	0/1:37,30:67:99:693,0,1071	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:313,347,775,0,429,402,347,775,429,775,347,775,429,775,775	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:313,347,775,0,429,402,347,775,429,775,347,775,429,775,775	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:313,347,775,0,429,402,347,775,429,775,347,775,429,775,775	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,119,0:220:99:.:.:3052,0,2314,3356,2671,6027	2	11	4	0
chr16	12704921	12704921	C	T	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G418A:p.E140K,	.	.	424	1053	44	1	0	46	0.0213755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.003	B	0.009	B	0.182	N	1.000	N	1.47	L	-1.87	D	-0.896	T	0.210	T	0.153	-0.799	0.678	2.26	0.229	1.041	2.229	0.173	.	0.0075	0.00539137	0.0065	0.0024	0.0080	0.0001	0.0061	0.0084	0.0144	0.0031	0.0064488	997	154602	rs149102231	0.0062	0.0062	0.0062	0.0063	0.0499	0.0061	0.0061	0.0452	0.0433	0.0036	0.0083	0.0356	5.038e-05	0.0050	0.0499	0.0057	0.0093	0.0026	0.0063	0.0063	0.0061	0.0064	0.0088	0.0059	0.0058	0.0076	0.0072	0.0024	0.0329	0.0088	0.0369	0	0.0057	0.0510	0.0065	0.0128	0.0033	0.856	0.02698	T	0.859	0.03418	T	0.003	0.11197	B	0.009	0.14300	B	0.182096	0.17075	N	0.643319	0.999965	0.19781	N	1.61	0.41143	L	-1.87	0.84415	D	-0.65	0.18877	N	0.133	0.12913	-0.8958	0.48408	T	0.210	0.56959	T	10	0.0033424199	0.00058	T	.	.	.	0.173	0.43840	.	.	0.334161072951	0.33023	0.5121376107525119	0.51135	0.0585219304848	0.06489	0.302525937557	0.10778	T	0.056636	0.30342	T	-0.411351	0.01947	T	-0.358245	0.38256	T	0.000492272297246034	0.00004	T	0.60384	0.22664	T	0.05335536	0.10085	0.048856646	0.07343	0.05335536	0.10084	0.048856646	0.07342	-6.533	0.50540	T	.	.	0.088	0.11461	B	.	.	0.915870	0.12904	9.415	0.77108861031554243	0.11740	0.19229	0.20579	N	AEFBI	0.140660	0.26262	N	-1.08559637687677	0.06908	0.3193624	-1.07588644487941	0.08177	0.4008957	3.89740331531611E-4	0.06781	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	2.26	0.27418	1.081000	0.30402	-0.311000	0.10039	-0.181000	0.10308	0.088000	0.22533	0.000000	0.08366	0.221000	0.22489	0.1582:0.5187:0.1534:0.1696	2.229	0.03747	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4253.11	35	chr16	12704921	.	C	T	4253.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.740;DP=988;ExcessHet=0.1072;FS=4.483;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.184;SOR=0.495	GT:AD:DP:GQ:PL	0/1:71,90:161:99:2415,0,1684	19	0	2	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	0/1:100,46:146:80:80,0,1800	1	0	20	0
chr16	14726177	14726177	C	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	723.05	7	chr16	14726177	.	C	T,*	723.05	.	AC=11,1;AF=0.306,0.028;AN=36;BaseQRankSum=-2.530e-01;DP=150;ExcessHet=1.2501;FS=3.780;InbreedingCoeff=-0.0715;MLEAC=12,1;MLEAF=0.333,0.028;MQ=24.72;MQRankSum=-5.240e-01;QD=10.96;ReadPosRankSum=0.036;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,3,0:6:56:.:.:56,0,61,65,70,135	8	2	7	3
chr16	19449566	19449566	G	A	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_001105248:exon5:c.G983A:p.S328N	.	.	415	1100	7	0	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.003	B	0.004	B	0.026	N	1.000	N	1.355	L	0.68	T	-1.095	T	0.036	T	0.017	2.254	13.49	-3.66	-0.757	0.163	3.478	0.053	.	0.0089	0.00758786	0.0027	0.0292	0.0013	0.0001	0	0.0003	0.0011	0.0002	0.0025744	398	154602	rs16972013	0.0010	0.0010	0.0012	0.0009	0.0291	0.0010	0.0010	0.0276	0.0270	0.0291	0.0018	0	2.519e-05	1.872e-05	0.0042	0.0002	0.0024	0.0002	0.0075	0.0076	0.0078	0.0073	0.0258	0.0072	0.0070	0.0245	0.0240	0.0258	0	0.0033	0	0	0	0.0068	0.0002	0.0047	0.0002	0.295	0.15823	T	0.49	0.11586	T	0.003	0.11197	B	0.004	0.10090	B	0.025692	0.01635	N	2.081900	1	0.08975	N	1.295	0.32453	L	0.68	0.51952	T	-0.48	0.17624	N	0.064	0.03956	-1.0948	0.04781	T	0.036	0.15378	T	10	0.0033977926	0.00059	T	.	.	.	0.053	0.14996	.	.	0.367992661779	0.36405	0.05799410891670901	0.05740	0.144701793676	0.16347	0.28974956274	0.08886	T	0.003812	0.03222	T	-0.67813	0.00049	T	-0.725913	0.04514	T	0.000634695721861894	0.00006	T	0.547445	0.18775	T	0.04238265	0.06417	0.04713559	0.06722	0.04238265	0.06417	0.04713559	0.06722	-4.057	0.24861	T	.	.	0.088	0.11606	B	.;.;.;.	.;.;.;.	0.643420	0.10120	6.864	0.93918325792765689	0.23958	0.01820	0.05660	N	AEFDBI	0.053215	0.09570	N	-1.03064521587653	0.07972	0.3722195	-1.10798732056472	0.07547	0.3675024	0.14755346708824	0.17385	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.71	-3.66	0.04200	0.177000	0.16615	1.384000	0.26059	0.650000	0.52971	0.000000	0.06391	0.001000	0.17328	0.062000	0.16114	0.3939:0.0:0.2697:0.3364	3.478	0.07157	692	0.58729	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2343.98	38	chr16	19449566	.	G	A	2343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=1025;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-6.990e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:127,95:222:99:2358,0,3304	20	0	1	0
chr16	19536405	19536405	C	T	exonic	CCP110	.	nonsynonymous SNV	CCP110:NM_001199022:exon4:c.C736T:p.R246C	.	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.963	D	0.000	D	1.000	D	1.795	L	2.08	T	-0.979	T	0.120	T	0.52	2.484	14.27	4.93	1.463	1.597	15.424	0.148	0.020678641117	.	.	0.0001	0.0002	0	0.0001	0	0.0001	0.0011	0.0002	0.0001035	16	154602	rs775264049	9.04e-05	9.03e-05	9.131e-05	8.948e-05	0.0036	7.765e-05	7.308e-05	0.0024	0.0021	0.0002	4.473e-05	0	7.559e-05	1.892e-05	0.0036	6.121e-05	0.0002	0.0002	9.204e-05	9.195e-05	0.0001	5.385e-05	0.0002	5.531e-05	4.367e-05	9.573e-05	6.968e-05	0.0002	0	0	0	0	0	0	7.351e-05	0	0.0002	0.015	0.52492	D	0.006	0.70582	D	1.0	0.90584	D	0.963	0.70837	D	0.000104	0.50451	D	0.169510	0.999982	0.54805	D	2.78	0.81115	M	2.07	0.20387	T	-2.68	0.57275	D	0.164	0.17278	-0.9786	0.35322	T	0.120	0.41929	T	10	0.16744801	0.31240	T	0.020679	0.43322	T	0.148	0.39182	0.291	0.25241	0.28722502521	0.28325	0.14128450645975815	0.14051	0.640609023037	0.57690	0.217453151941	0.01168	T	0.222745	0.58668	T	-0.302517	0.08424	T	-0.366345	0.37316	T	0.34192368388176	0.26700	T	0.816218	0.47186	T	0.13546644	0.31438	0.0878602	0.20448	0.13546644	0.31438	0.0878602	0.20447	-5.291	0.39854	T	.	.	0.096	0.19235	B	.;.;.	.;.;.	2.685429	0.35042	19.79	0.99892281098428948	0.96589	0.55656	0.29919	D	AEFBI	0.178381	0.30564	N	0.132819928554342	0.47999	3.017931	-0.00787226182681605	0.39358	2.332385	0.999997538239933	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.89	4.93	0.64394	1.646000	0.36865	-0.305000	0.10084	-0.171000	0.11205	0.135000	0.23427	0.000000	0.08366	0.190000	0.21601	0.0:0.9328:0.0:0.0672	15.424	0.74765	449	0.79428	.;.;.	.	.	.	.	.	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	1270.98	35	chr16	19536405	.	C	T	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=957;ExcessHet=0.0000;FS=4.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=1.36;SOR=0.471	GT:AD:DP:GQ:PL	0/1:72,49:121:99:1285,0,1901	20	0	1	0
chr16	20471605	20471605	G	C	exonic	ACSM2A	.	nonsynonymous SNV	ACSM2A:NM_001308169:exon5:c.G573C:p.L191F	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.094	B	0.355	N	1.000	N	0.78	N	0.66	T	-1.028	T	0.076	T	0.234	0.183	4.987	-1.09	-0.452	-0.141	5.680	0.014	0.011491081462	0.0002	0.000998403	0.0009	0	0.0003	0	0.0012	0.0003	0.0022	0.0045	0.0007568	117	154602	rs147894332	0.0006	0.0006	0.0005	0.0008	0.0049	0.0006	0.0006	0.0045	0.0044	2.988e-05	0.0002	0.0003	0	0.0012	0.0012	0.0003	0.0007	0.0049	0.0005	0.0005	0.0004	0.0006	0.0037	0.0004	0.0004	0.0024	0.0020	7.22e-05	0	6.539e-05	0	0.0002	0.0021	0.0034	0.0004	0.0009	0.0037	0.208	0.19782	T	0.169	0.30534	T	0.073	0.24078	B	0.089	0.29769	B	0.355113	0.13755	N	0.534240	1	0.08975	N	1.71	0.44315	L	0.66	0.52416	T	-0.14	0.15178	N	0.141	0.14054	-1.0278	0.21168	T	0.076	0.30492	T	10	0.0040208995	0.00078	T	0.011491	0.29167	T	0.014	0.01968	0.568	0.69034	0.166414681773	0.16258	0.37622368379413373	0.37536	0.814576588463	0.66882	0.32591176033	0.14316	T	0.009322	0.08490	T	-0.535727	0.00355	T	-0.542318	0.18069	T	0.011539095449914	0.00174	T	0.410559	0.10607	T	0.25579733	0.48616	0.09188482	0.21627	0.25579733	0.48616	0.09188482	0.21626	-3.35	0.14391	T	.	.	0.202	0.42664	B	.;.;.;.;.	.;.;.;.;.	-0.257318	0.02810	0.387	0.49995887100704056	0.04307	0.04548	0.10186	N	AEFDI	0.506943	0.53745	D	-1.28369399443749	0.03871	0.1737353	-1.36536622377033	0.03628	0.1696218	1.92427178571221E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.51	-1.09	0.09397	0.296000	0.18839	-0.670000	0.07939	-0.124000	0.13482	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.1957:0.0:0.6514:0.1529	5.680	0.17042	788	0.46569	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	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	3357.98	41	chr16	20471605	.	G	C	3357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.800e-02;DP=1000;ExcessHet=0.0000;FS=0.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.11;MQRankSum=1.44;QD=13.93;ReadPosRankSum=-4.300e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:115,126:241:99:3372,0,2940	20	0	1	0
chr16	20963804	20963806	GTT	-	exonic	DNAH3	.	nonframeshift deletion	DNAH3:NM_001347886:exon53:c.9940_9942del:p.N3314del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-06	6.84e-06	2.722e-06	1.1e-05	1.159e-05	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.093e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2378.94	35	chr16	20963803	.	CGTT	C	2378.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.240e-01;DP=1311;ExcessHet=0.0000;FS=1.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.02;ReadPosRankSum=0.988;SOR=0.862	GT:AD:DP:GQ:PL	0/1:70,62:132:99:2393,0,2734	20	0	1	0
chr16	21836042	21836042	T	A	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.A2345T:p.H782L	.	.	801	714	5	2	0	9	0.00626305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.845	P	0.855	P	.	.	.	.	.	.	1.92	T	-1.048	T	0.090	T	0.169	0.485	6.632	.	.	.	.	0.108	0.0744435508004	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200479445	0.0079	0.0008	0.0077	0.0079	0.0667	0.0071	0.0067	0.0118	0.0104	0	0.0034	0.0172	0	0.0046	0.0667	0.0125	0.0045	0.0041	.	0.0010	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.403	0.14865	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65	0.27650	T	-0.93	0.24898	N	0.097	0.07811	-1.0477	0.15045	T	0.090	0.34491	T	4	0.04022956	0.02575	T	0.074444	0.72042	D	0.108	0.30607	.	.	0.552615868945	0.54919	1.5464871702295134E-5	0.00001	.	.	.	.	.	0.020245	0.15973	T	-0.54995	0.00292	T	-0.567979	0.15635	T	0.0483511261881775	0.05207	T	0.381062	0.09207	T	0.10896292	0.25763	0.15844259	0.37001	0.10896292	0.25763	0.15844259	0.37000	-11.054	0.79953	D	.	.	0.760	0.75508	P	.	.	1.070084	0.14522	11.09	0.76209008688680602	0.11376	0.00115	0.00727	N	AEFBI	0.044752	0.07239	N	-0.202937159608316	0.33012	1.86826	-0.357665776245545	0.26272	1.450098	1.09648973830877E-6	0.01202	0.487112	0.14033	0	0.315538	0.05683	2	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.148000	0.16042	-7.506000	0.01142	0.170000	0.17755	0.007000	0.17678	0.000000	0.08366	0.007000	0.07825	.	.	.	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	266.98	10	chr16	21836042	.	T	A	266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.95;DP=465;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=29.33;MQRankSum=-9.980e-01;QD=9.21;ReadPosRankSum=-5.270e-01;SOR=1.402	GT:AD:DP:GQ:PL	0/1:16,13:29:99:281,0,400	20	0	1	0
chr16	21847459	21847459	G	A	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon2:c.C203T:p.P68L	.	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.213	B	0.056	B	.	.	.	.	.	.	1.21	T	-0.963	T	0.031	T	0.42	-2.259	0.004	0.589	-0.351	-0.042	.	0.067	0.00162891877565	.	0.000599042	0.0016	0	0	0	0	0.0019	0	0.0035	6.47e-05	10	154602	rs201888052	0.0011	0.0011	0.0011	0.0010	0.0014	0.0010	0.0010	0.0012	0.0011	0.0002	6.76e-05	0	0.0005	0.0002	0	0.0012	0.0016	0.0014	0.0006	0.0007	0.0009	0.0004	0.0012	0.0005	0.0005	0.0010	0.0009	0.0002	0	0.0001	0	0.0006	0	0	0.0012	0.0010	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.11	0.26188	B	0.056	0.26147	B	.	.	.	.	.	.	.	.	.	.	1.21	0.37230	T	1.47	0.01011	N	0.093	0.18649	-0.9632	0.38567	T	0.031	0.13461	T	6	0.012043774	0.00260	T	0.001629	0.02651	T	0.067	0.19503	0.507	0.60232	0.28492961333	0.28089	0.016479163474655636	0.01602	.	.	.	.	.	0.003558	0.02970	T	-0.16513	0.25974	T	-0.474974	0.24982	T	0.00487989841713165	0.00052	T	0.684232	0.31087	T	0.048354838	0.08413	0.06443235	0.12913	0.048354838	0.08413	0.06443235	0.12912	-0.661	0.00692	T	.	.	0.616	0.69518	P	.;.;.;.;.	.;.;.;.;.	-0.452661	0.02024	0.181	0.12837805566826915	0.00235	0.00005	0.00104	N	AEFI	0.017217	0.00437	N	-1.57235525011879	0.01408	0.06141117	-1.68569017757422	0.01202	0.05410858	1.23880235483463E-6	0.01202	0.693126	0.56070	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.589	0.589	0.16636	-0.003000	0.12836	1.646000	0.27819	-0.598000	0.04625	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	.	.	.	603	0.67726	.;.;.;.;.	.	.	.	.	.	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	37	chr16	21847459	.	G	A	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=1180;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.50;MQRankSum=-4.171e+00;QD=1.46;ReadPosRankSum=-1.073e+00;SOR=0.531	GT:AD:DP:GQ:PL	0/1:392,84:476:99:711,0,8683	20	0	1	0
chr16	21847534	21847534	T	C	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon2:c.A128G:p.N43S	.	.	465	1050	6	1	0	8	0.00379507	.	.	2807722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.989	D	0.908	P	.	.	.	.	.	.	0.89	T	-0.569	T	0.198	T	0.237	1.455	10.81	0.589	0.507	0.146	.	0.094	.	.	0.00179712	0.0082	0	0.0118	0	0.0625	0.0113	0	0.0028	0.0001358	21	154602	rs199863058	0.0050	0.0058	0.0050	0.0049	0.0070	0.0049	0.0048	0.0053	0.0053	0.0010	0.0025	0.0150	0	0.0034	0.0070	0.0055	0.0058	0.0008	0.0042	0.0047	0.0040	0.0044	0.0057	0.0039	0.0038	0.0052	0.0050	0.0010	0	0.0048	0.0159	0	0.0057	0.0180	0.0057	0.0036	0.0005	0.006	0.63226	D	0.009	0.92824	D	0.843	0.46605	P	0.893	0.63340	P	.	.	.	.	.	.	.	.	.	.	0.89	0.45636	T	-2.13	0.61435	N	0.112	0.16168	-0.5694	0.66039	T	0.198	0.55372	T	6	0.0053065717	0.00116	T	.	.	.	0.094	0.27141	.	.	0.198526703765	0.19489	0.011931017693493294	0.01153	.	.	.	.	.	0.024963	0.18762	T	-0.539092	0.00339	T	-0.54286	0.18016	T	0.0400907091728157	0.03707	T	0.888311	0.64041	D	0.10054736	0.23742	0.120550916	0.29091	0.10054736	0.23742	0.120550916	0.29090	-2.825	0.08416	T	.	.	0.216	0.44553	B	.;.;.;.;.	.;.;.;.;.	0.430060	0.08007	4.721	0.99046061366414018	0.51140	0.00390	0.01961	N	AEFI	0.061874	0.11859	N	-0.482341788067094	0.22660	1.211501	-0.780919192340417	0.14963	0.7845777	1.35027997785632E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.589	0.589	0.16636	-0.229000	0.09106	-9.545000	0.00807	-0.646000	0.04408	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	603	0.67726	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	1666.98	37	chr16	21847534	.	T	C	1666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.763;DP=1069;ExcessHet=0.0000;FS=2.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.40;MQRankSum=-2.110e+00;QD=4.71;ReadPosRankSum=-1.900e-01;SOR=0.819	GT:AD:DP:GQ:PL	0/1:257,97:354:99:1681,0,6163	20	0	1	0
chr16	29381691	29381691	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C3241G:p.R1081G,	.	.	553	960	1	5	3	14	0.00569653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	0	N	0.24	T	-1.009	T	0.089	T	0.112	0.803	8.221	.	0.064	0.064	.	0.080	0.00416674162864	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528606058	0.0001	6.51e-05	0.0001	9.738e-05	0.0013	8.036e-05	7.256e-05	0.0003	0.0002	0	7.069e-05	0	0	0	0.0013	0.0001	0.0002	9.88e-05	5.471e-05	4.739e-05	2.05e-05	9.389e-05	6.314e-05	2.099e-05	1.361e-05	1.675e-05	8.64e-06	0	0	0	0	0	0	0	6.314e-05	0.0018	0	0.102	0.30235	T	0.092	0.39954	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	0.24	0.59583	T	-0.96	0.25551	N	0.168	0.17828	-1.0094	0.27105	T	0.089	0.34160	T	5	0.09611273	0.17216	T	0.004167	0.10026	T	0.080	0.23350	0.251	0.18912	0.433823933641	0.42998	0.0020538258508922516	0.00190	.	.	.	.	.	0.012001	0.10618	T	-0.343938	0.05120	T	-0.532826	0.19006	T	0.0840512334389132	0.10497	T	0.473853	0.14122	T	0.09276863	0.21772	0.1569316	0.36719	0.09276863	0.21772	0.1569316	0.36718	-6.945	0.53632	T	.	.	0.358	0.57091	A	.	.	1.864911	0.23687	16.11	0.91891882053020202	0.21210	0.00341	0.01769	N	AEFDI	0.048526	0.08288	N	-0.945013095367644	0.09805	0.4656869	-1.1341917360785	0.07055	0.3417709	7.73663240632492E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.089000	0.14843	0.481000	0.18806	0.093000	0.17603	0.024000	0.20007	0.001000	0.17328	0.025000	0.12405	.	.	.	779	0.47767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1364.98	33	chr16	29381691	.	G	C	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.334e+00;DP=673;ExcessHet=0.0000;FS=30.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=28.89;MQRankSum=-2.174e+00;QD=20.07;ReadPosRankSum=-2.527e+00;SOR=1.192	GT:AD:DP:GQ:PL	0/1:14,54:68:99:1379,0,279	20	0	1	0
chr16	29485566	29485566	G	T	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C910A:p.P304T,	.	.	554	965	3	0	0	3	0.00155199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	.	.	2.13	T	-1.012	T	0.049	T	0.122	0.988	9.032	.	0.064	0.064	.	0.039	0.000998784482575	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168288090	0.0002	0.0005	0.0001	0.0002	0.0035	0.0001	0.0001	0.0030	0.0028	0	0	0.0001	0.0035	0.0002	0	6.79e-06	5.349e-05	0.0008	0.0005	0.0006	0.0005	0.0005	0.0093	0.0004	0.0004	0.0070	0.0062	2.952e-05	0	0	0.0006	0.0093	0.0001	0	3.349e-05	0.0005	0.0076	0.01	0.56456	D	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	2.13	0.19588	T	-3.57	0.68999	D	0.191	0.20925	-1.0119	0.26322	T	0.049	0.20711	T	4	0.010250539	0.00229	T	9.99E-4	0.01073	T	0.039	0.10176	0.529	0.63560	0.101711395817	0.09552	.	.	.	.	.	.	.	.	.	.	-0.29199	0.09438	T	-0.6572	0.08457	T	0.0828104060974807	0.10343	T	0.654634	0.65300	T	.	.	.	.	.	.	.	.	-9.75	0.72402	D	.	.	0.211	0.43962	B	.;.	.;.	1.678633	0.21398	15.18	0.98327842493652162	0.40309	0.00201	0.01154	N	AEFI	0.036572	0.04896	N	-0.792272824534438	0.13510	0.6660753	-1.04853092477546	0.08738	0.4310775	1.09537333666636E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	.	.	.	0.133000	0.15736	-1.906000	0.04518	0.194000	0.17875	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	749	0.51929	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	634.98	39	chr16	29485566	.	G	T	634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.584e+00;DP=2962;ExcessHet=0.0000;FS=9.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.57;MQRankSum=-1.060e+00;QD=1.72;ReadPosRankSum=-6.980e-01;SOR=0.346	GT:AD:DP:GQ:PL	0/1:303,67:370:99:649,0,7606	20	0	1	0
chr16	30006930	30006938	CCTGCTCCG	-	exonic	DOC2A	.	nonframeshift deletion	DOC2A:NM_001282068:exon8:c.725_733del:p.A242_Q244del	.	.	356	1163	3	0	0	3	0.00128811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0009	0.0004	0	0	0.0003	0.0010	0.0012	0.0019	1.94e-05	3	154602	rs749863198	0.0009	0.0009	0.0009	0.0010	0.0019	0.0009	0.0009	0.0016	0.0016	0.0004	0.0001	0.0001	2.521e-05	0.0004	0.0009	0.0010	0.0005	0.0019	0.0006	0.0006	0.0006	0.0007	0.0019	0.0005	0.0005	0.0010	0.0007	0.0003	0	0.0003	0.0003	0.0002	0.0006	0.0034	0.0009	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1384.94	58	chr16	30006929	.	CCCTGCTCCG	C	1384.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=1071;ExcessHet=0.0000;FS=1.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.72;ReadPosRankSum=2.10;SOR=0.972	GT:AD:DP:GQ:PL	0/1:38,36:74:99:1399,0,1465	20	0	1	0
chr16	30194996	30194996	G	A	exonic	SLX1A;SLX1B	.	nonsynonymous SNV	SLX1A:NM_001014999:exon3:c.G351A:p.M117I	.	.	587	934	1	0	0	1	0.000535045	.	.	3333257	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	-0.291	T	0.352	T	0.663	3.859	19.61	3.82	1.993	6.753	14.672	0.408	0.696325551989	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409560826	0.0003	0.0006	0.0002	0.0004	0.0053	0.0003	0.0003	0.0048	0.0046	3.699e-05	0	0	0	0	0	1.116e-06	0.0003	0.0053	0.0002	0.0003	6.603e-05	0.0004	0.0072	0.0002	0.0001	0.0053	0.0046	0	0	0	0	0	0	0	0	0	0.0072	0.009	0.57480	D	0.009	0.66756	D	.	.	.	.	.	.	0.000014	0.62929	U	0.064020	0.999982	0.81001	D	2.93	0.84523	M	.	.	.	-3.52	0.68412	D	0.667	0.67564	-0.2908	0.75243	T	0.352	0.71588	T	6	0.4781714	0.60270	T	0.696326	0.97508	D	0.408	0.72022	0.665	0.80300	0.209943299407	0.20609	0.786613923788286	0.78613	2.75140480427	0.98719	0.950781822205	0.99767	D	0.223269	0.58737	T	0.200785	0.73966	D	0.0506376	0.73627	D	0.126213075725295	0.15028	T	.	.	.	0.4742308	0.65549	0.49301878	0.70675	0.4742308	0.65550	0.49301878	0.70676	-9.206	0.69013	D	.	.	0.889	0.82035	P	.	.	4.966625	0.82161	27.7	0.99563269341180405	0.71892	0.98679	0.85488	D	AEFI	0.782336	0.71365	D	0.185814920163699	0.50519	3.241031	0.172073339097553	0.48324	3.049768	0.999995422830255	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.82	3.82	0.43153	8.206000	0.89705	11.221000	0.89777	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:0.0:1.0:0.0	14.672	0.68561	265	0.89590	.	.	.	.	.	.	Uncertain significance	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	119.99	22	chr16	30194996	.	G	A	119.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.769e+00;DP=463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=3.00;ReadPosRankSum=-6.430e-01;SOR=0.072	GT:AD:DP:GQ:PL	0/1:32,8:40:99:134,0,896	20	0	1	0
chr16	50710792	50710792	C	G	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C800G:p.T267S	Blau syndrome, Autosomal dominant	.	1	1503	17	1	0	19	0.00628099	.	.	103775	not_provided|Autoinflammatory_syndrome|Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	2.615	M	0.01	T	-0.072	T	0.441	T	0.487	2.658	14.85	4.59	2.616	3.090	12.683	0.453	.	7.7e-05	0.000599042	0.0016	0	0	0	0.0159	0.0010	0.0034	0.0015	0.0012936	200	154602	rs104895425	0.0009	0.0009	0.0008	0.0009	0.0018	0.0008	0.0008	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0.0158	0.0014	0.0002	0.0010	0.0018	0.0015	0.0015	0.0007	0.0024	0.0017	0.0013	0.0013	0.0008	0.0006	2.405e-05	0	0	0	0	0.0179	0	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999378	0.46831	D	2.71	0.79292	M	0.01	0.62459	T	-3.03	0.62747	D	0.487	0.52119	-0.0718	0.80739	T	0.441	0.77928	T	10	0.011494249	0.00251	T	.	.	.	0.453	0.75279	0.663	0.80098	0.796638325416	0.79474	0.6449815059138468	0.64433	0.417046807606	0.42336	0.436996817589	0.30167	T	0.561292	0.85318	D	-0.314858	0.07328	T	-0.249676	0.49848	T	0.0917502078245112	0.11424	T	0.767123	0.39533	T	0.38401026	0.59605	0.37821427	0.62904	0.5141746	0.67924	0.3304562	0.58914	-6.747	0.52163	T	0.6404888967544875	0.71113	0.333	0.55403	B	.;.	.;.	3.646754	0.51738	23.1	0.99442847584936889	0.64870	0.92131	0.55013	D	AEFDBI	0.536069	0.55443	D	0.56547503334926	0.71030	5.589233	0.473089049408269	0.66213	4.922825	0.999999985701156	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	4.59	0.56297	2.739000	0.47083	3.264000	0.37112	-0.176000	0.10722	0.987000	0.36337	0.998000	0.33993	0.118000	0.19084	0.0:0.9173:0.0:0.0827	12.683	0.56298	701	0.57775	.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2840.11	33	chr16	50710792	.	C	G	2840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.184;DP=1479;ExcessHet=0.1072;FS=10.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.020;SOR=0.315	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1450,0,1810	19	0	2	0
chr16	55823613	55823613	G	A	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon4:c.C473T:p.A158V	Carboxylesterase 1 deficiency (3)	.	0	1505	17	0	0	17	0.00561612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.731	P	0.005	N	0.984	D	1.2	L	2.88	T	-1.141	T	0.038	T	0.222	3.107	16.38	4.05	1.829	5.847	9.941	0.164	.	7.7e-05	.	0.0092	0.0004	0.0004	0.0003	0	2.997e-05	0.0011	0.0669	0.0073285	1133	154602	rs202121317	0.0037	0.0040	0.0021	0.0054	0.0598	0.0037	0.0036	0.0584	0.0579	0.0005	2.237e-05	0	0.0004	1.872e-05	0.0023	3.238e-05	0.0045	0.0598	0.0019	0.0023	0.0011	0.0027	0.0578	0.0017	0.0016	0.0522	0.0500	0.0002	0	0	0	0.0006	0	0	1.47e-05	0	0.0578	0.039	0.42487	D	0.024	0.59159	D	0.989	0.64070	D	0.557	0.55321	P	0.004663	0.33505	N	0.212848	0.983763	0.40056	D	1.68	0.43186	L	2.88	0.11189	T	-3.14	0.64019	D	0.291	0.36989	-1.1406	0.01336	T	0.038	0.16290	T	10	0.0069095194	0.00157	T	.	.	.	0.164	0.42212	.	.	0.117506650769	0.11410	0.6684481198172539	0.66782	0.0959331486616	0.10827	0.346175581217	0.17358	T	0.388716	0.74933	T	-0.547318	0.00303	T	-0.51417	0.20887	T	0.0542567585836936	0.06232	T	0.911709	0.68653	D	0.5689683	0.71003	0.3693836	0.62209	0.5689683	0.71005	0.3693836	0.62209	-8.184	0.62969	D	0.2432735252205223	0.32951	0.262	0.50380	B	.;.;.	.;.;.	4.101286	0.61153	24.3	0.99892962275422781	0.96666	0.92126	0.55002	D	AEFGI	0.923544	0.90019	D	0.296145747370892	0.55952	3.759449	0.261276052500717	0.53291	3.49895	0.90499167727813	0.26193	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.05	4.05	0.46415	6.387000	0.73118	8.564000	0.77578	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.703000	0.34233	0.0:0.2086:0.7914:0.0	9.941	0.40748	934	0.15400	.;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	41	chr16	55823613	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.023e+00;DP=1136;ExcessHet=0.0000;FS=6.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.93;MQRankSum=-3.518e+00;QD=4.07;ReadPosRankSum=-6.800e-01;SOR=1.108	GT:AD:DP:GQ:PL	0/1:228,68:296:99:1218,0,6306	20	0	1	0
chr16	55871648	55871648	C	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon3:c.G394A:p.A132T	.	.	435	1072	14	1	0	16	0.00740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	1.0	D	0.995	D	0.000	D	1.000	N	1.365	L	-0.23	T	-0.920	T	0.079	T	0.332	2.585	14.60	4.11	2.548	0.650	11.111	0.261	.	7.7e-05	0.0155751	0.0079	0.0003	0.0003	0.0458	0	0.0004	0.0088	0.0315	0.0071474	1105	154602	rs143198507	0.0036	0.0037	0.0029	0.0044	0.0577	0.0036	0.0035	0.0557	0.0549	0.0001	0.0005	0.0008	0.0577	0	0.0016	0.0002	0.0043	0.0291	0.0029	0.0030	0.0021	0.0038	0.0422	0.0027	0.0026	0.0376	0.0358	0.0004	0	0.0016	0.0017	0.0422	0	0	0.0001	0.0043	0.0343	0.318	0.16683	T	0.555	0.10750	T	1.0	0.90584	D	0.995	0.83170	D	0.000251	0.46924	D	0.000000	1	0.08975	N	0.905	0.23240	L	-0.23	0.66652	T	-1.7	0.63090	N	0.146	0.18376	-0.9203	0.45513	T	0.079	0.31526	T	10	0.0030933022	0.00051	T	.	.	.	0.261	0.57352	.	.	0.404034981753	0.40020	0.6161346590139009	0.61545	0.257089264013	0.28279	0.344182699919	0.17062	T	0.054175	0.29650	T	-0.472377	0.00822	T	-0.401846	0.33168	T	0.0640882546504064	0.07796	T	0.692831	0.53247	T	0.09845061	0.23221	0.16496302	0.38187	0.09845061	0.23221	0.16496302	0.38187	-4.771	0.34252	T	.	.	0.112	0.26482	B	.;.;.;.;.	.;.;.;.;.	2.752879	0.36087	20.2	0.99728591860884608	0.82619	0.20432	0.21039	N	AEFDGBCI	0.064160	0.12443	N	-0.0917447921169195	0.37754	2.201079	-0.234854671446656	0.30297	1.704613	0.990735054840768	0.32251	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	4.11	0.47350	0.401000	0.20673	0.766000	0.21355	-0.176000	0.10722	0.015000	0.19116	0.016000	0.20520	0.001000	0.02609	0.0:0.8132:0.1868:0.0	11.111	0.47452	923	0.18507	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2548.98	34	chr16	55871648	.	C	T	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e+00;DP=854;ExcessHet=0.0000;FS=2.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.08;ReadPosRankSum=0.172;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,68:141:99:0|1:55871648_C_T:2563,0,2757:55871648	20	0	1	0
chr16	55871659	55871659	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon3:c.C383A:p.A128E	.	.	436	1071	14	1	0	16	0.00741427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.006	N	1.000	D	3.1	M	-0.31	T	-0.353	T	0.156	T	0.771	3.921	19.94	4.17	2.553	3.159	10.212	0.448	.	.	0.0155751	0.0078	0.0003	0.0003	0.0460	0	0.0003	0.0088	0.0314	0.0070762	1094	154602	rs148234688	0.0036	0.0037	0.0029	0.0044	0.0585	0.0036	0.0035	0.0566	0.0558	0.0001	0.0004	0.0008	0.0585	0	0.0016	0.0001	0.0043	0.0293	0.0029	0.0029	0.0021	0.0038	0.0421	0.0027	0.0026	0.0376	0.0358	0.0004	0	0.0013	0.0017	0.0421	0	0	0.0001	0.0043	0.0342	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.79672	D	0.006162	0.32222	N	0.145278	1	0.81001	D	3.36	0.91202	M	-0.31	0.68030	T	-2.27	0.54546	N	0.658	0.66787	-0.3531	0.73464	T	0.156	0.48824	T	10	0.015060633	0.00316	T	.	.	.	0.448	0.74935	.	.	0.509109621728	0.50552	0.9025531029679802	0.90227	0.264670799846	0.29017	0.357738345861	0.19055	T	0.323243	0.69417	T	-0.199897	0.20820	T	-0.00806536	0.69812	D	0.123356952034893	0.14754	T	0.90031	0.80045	D	0.7339333	0.79946	0.72389394	0.83693	0.7339333	0.79948	0.72389394	0.83694	-9.498	0.73106	D	.	.	0.617	0.69592	P	.;.;.;.;.	.;.;.;.;.	2.892114	0.38301	20.7	0.99239344655974082	0.56501	0.87185	0.46648	D	AEFDGBCI	0.189552	0.31680	N	0.438389610010089	0.63546	4.590602	0.252853441989632	0.52813	3.453538	0.999970772153781	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	4.17	0.48303	2.663000	0.46440	0.731000	0.21087	-0.109000	0.15193	0.487000	0.26855	0.000000	0.08366	0.016000	0.10718	0.097:0.0:0.903:0.0	10.212	0.42326	923	0.18507	.;.;.;Carboxylesterase, type B|Carboxylesterase type B, conserved site;Carboxylesterase, type B|Carboxylesterase type B, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2628.98	34	chr16	55871659	.	G	T	2628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.749;DP=866;ExcessHet=0.0000;FS=2.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.30;ReadPosRankSum=0.182;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,72:152:99:0|1:55871648_C_T:2643,0,2906:55871648	20	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2294.46	37	chr16	57813723	.	T	C,*	2294.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=0.819;DP=938;ExcessHet=0.6776;FS=1.309;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=0.332;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,37,0:81:99:.:.:953,0,1150,1085,1261,2346	17	0	2	0
chr16	57884192	57884192	G	A	exonic	CNGB1	.	nonsynonymous SNV	CNGB1:NM_001286130:exon33:c.C3710T:p.P1237L	Retinitis pigmentosa 45, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	937509	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.071	N	1.000	N	1.1	L	-3.94	D	-0.332	T	0.669	D	0.179	-0.174	3.150	2.27	0.217	1.350	4.606	0.176	0.0456708885617	.	0.000399361	0.0003	0.0001	0	0	0	0.0002	0.0023	0.0015	0.0002587	40	154602	rs372109962	0.0001	0.0001	8.985e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0007	0.0001	4.472e-05	0	0	0	0.0002	7.285e-05	0.0002	0.0010	9.848e-05	9.843e-05	7.71e-05	0.0001	0.0012	6.001e-05	4.876e-05	0.0005	0.0004	0.0001	0	0	0	0	0	0.0034	2.94e-05	0	0.0012	0.4	0.11156	T	0.206	0.27056	T	0.0	0.02946	B	0.001	0.04355	B	0.070759	0.21518	N	0.438852	1	0.08975	N	1.285	0.32305	L	-3.94	0.96308	D	-2.09	0.47683	N	0.089	0.14622	-0.3324	0.74064	T	0.669	0.88512	D	10	0.009383082	0.00212	T	0.045671	0.62094	D	0.176	0.44373	0.209	0.12639	0.42805410278	0.42423	0.11175990432766601	0.11104	0.0965671410047	0.10902	0.392644017935	0.24041	T	0.190012	0.54442	T	-0.285511	0.10092	T	-0.218271	0.52903	T	0.00808826757688509	0.00096	T	0.490951	0.15096	T	0.032194257	0.03199	0.06001108	0.11357	0.032194257	0.03198	0.06001108	0.11356	-4.767	0.34204	T	.	.	0.096	0.15385	B	.;.	.;.	1.233373	0.16282	12.44	0.83680420757806695	0.14860	0.09906	0.15554	N	AEFDBI	0.094653	0.19136	N	-1.00442364736314	0.08511	0.3993598	-0.990980546550644	0.09986	0.5002037	0.999776950349235	0.42865	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.38	2.27	0.27501	1.256000	0.32524	3.084000	0.36251	-0.123000	0.13640	0.202000	0.24332	0.249000	0.23905	0.011000	0.09372	0.188:0.0:0.6385:0.1735	4.606	0.11766	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	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	705.98	34	chr16	57884192	.	G	A	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=815;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.13;ReadPosRankSum=-1.494e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:64,35:99:99:720,0,1395	20	0	1	0
chr16	67282505	67282505	C	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon8:c.C1013T:p.T338M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.833	P	0.216	B	0.763	N	1.000	N	0.69	N	3.02	T	-1.027	T	0.018	T	0.081	1.002	9.091	4.59	2.722	-0.293	10.497	0.091	0.00897261410636	7.7e-05	0.000199681	2.475e-05	0	0	0	0	4.505e-05	0	0	2.59e-05	4	154602	rs149891982	4.447e-05	4.446e-05	4.629e-05	4.263e-05	0.0002	3.575e-05	3.257e-05	4.091e-05	3.741e-05	5.974e-05	0	0	0	0	0.0002	5.216e-05	3.312e-05	2.319e-05	5.908e-05	5.905e-05	3.854e-05	8.054e-05	0.0001	3.074e-05	2.208e-05	4.764e-05	3.339e-05	4.811e-05	0	0	0	0	0	0	0.0001	0	0	0.095	0.33585	T	0.049	0.51112	D	0.744	0.46172	P	0.107	0.37572	B	0.763117	0.06552	N	1.177620	1	0.08975	N	0	0.06538	N	3.02	0.08986	T	-1.65	0.39503	N	0.075	0.09772	-1.0272	0.21363	T	0.018	0.07329	T	10	0.051061153	0.04931	T	0.008973	0.23631	T	0.091	0.26358	.	.	0.350964488264	0.34705	0.09665590258348188	0.09597	0.27085037371	0.29608	0.261438250542	0.05064	T	0.052666	0.29226	T	-0.432656	0.01429	T	-0.7516	0.03423	T	0.139739811420441	0.16253	T	0.574842	0.20648	T	0.020522587	0.00614	0.042463273	0.05062	0.020522587	0.00614	0.042463273	0.05062	-5.292	0.39864	T	.	.	0.070	0.03661	B	.;.;.;.	.;.;.;.	0.787136	0.11572	8.167	0.96602109518110679	0.30409	0.03554	0.08756	N	AEFDBI	0.047478	0.07999	N	-0.293269382982851	0.29407	1.630503	-0.301874559988773	0.28038	1.560218	0.994564780206566	0.33696	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.73	4.59	0.56297	-0.277000	0.08534	0.390000	0.17879	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.8988:0.0:0.1012	10.497	0.43972	23	0.98420	.;.;.;.	.	.	.	.	.	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	2555.98	45	chr16	67282505	.	C	T	2555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.910e-01;DP=1155;ExcessHet=0.0000;FS=2.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-4.330e-01;SOR=0.524	GT:AD:DP:GQ:PL	0/1:142,104:246:99:2570,0,3763	20	0	1	0
chr16	67930999	67930999	C	T	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon3:c.G157A:p.D53N,	.	.	408	1113	1	0	0	1	0.000449035	0.7332	0.23	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.787	P	0.561	P	0.172	U	0.992	D	-1.01	N	.	.	-1.028	T	0.057	T	0.151	3.849	19.55	1.95	0.674	0.150	5.354	0.095	.	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773224403	1.163e-05	1.163e-05	6.807e-06	1.65e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	4.042e-05	0	0	0	0	0	0.0003	4.496e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.14633	T	0.787	0.44504	P	0.561	0.49582	P	0.171986	0.03117	U	1.859930	0.991632	0.41436	D	0.44	0.12706	N	-3.09	0.92613	D	.	.	.	0.293	0.33140	-1.0275	0.21266	T	0.057	0.24130	T	9	0.122272104	0.23193	T	0.049004	0.63623	D	.	.	0.461	0.52916	0.948121439518	0.94758	0.5750932305918683	0.57438	0.146554516789	0.16541	0.398786664009	0.24900	T	0.114517	0.62975	T	-0.169038	0.25381	T	-0.243919	0.50415	T	0.137376003252387	0.16047	T	0.831417	0.66064	T	0.08444336	0.19544	0.051831897	0.08422	0.08444336	0.19543	0.051831897	0.08421	-6.664	0.51539	T	.	.	0.234	0.50035	B	.;.	.;.	4.212039	0.63645	24.6	0.98043921940568768	0.37812	0.36121	0.25460	N	AEFDBHCI	0.194400	0.32148	N	-0.496120584046549	0.22207	1.18416	-0.488793594917062	0.22461	1.220112	0.99272565551245	0.32945	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.714379	0.83352	0	.	.	5.3	1.95	0.25130	0.156000	0.16200	3.233000	0.36920	0.599000	0.40250	0.036000	0.20778	1.000000	0.68203	0.973000	0.55318	0.1202:0.4336:0.3511:0.0951	5.354	0.15353	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1519.98	37	chr16	67930999	.	C	T	1519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.445;DP=881;ExcessHet=0.0000;FS=4.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-3.130e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/1:84,57:141:99:1534,0,2374	20	0	1	0
chr16	68049539	68049539	G	A	exonic	DUS2	.	nonsynonymous SNV	DUS2:NM_001271762:exon3:c.G161A:p.R54K	.	.	431	1088	3	0	0	3	0.00137678	.	.	2689328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.999	D	0.288	N	1.000	D	2.205	M	1.59	T	-0.850	T	0.217	T	0.613	3.262	16.94	5.05	2.361	7.645	15.323	0.212	0.0250008063682	7.7e-05	0.000199681	0.0004	0	8.637e-05	0	0	0.0002	0	0.0018	0.0003752	58	154602	rs147235496	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0010	0.0009	0	4.472e-05	3.826e-05	2.519e-05	0	0.0005	0.0002	0.0002	0.0011	0.0001	0.0001	0.0001	0.0001	0.0006	7.57e-05	6.276e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0002	0	0.0006	0.003	0.91255	D	0.036	0.92824	D	0.597	0.90584	P	0.78	0.92359	P	0.288178	0.14818	N	0.638432	0.999999	0.58761	D	1.99	0.53851	M	1.59	0.34648	T	-2.96	0.62343	D	0.602	0.62018	-0.8497	0.51989	T	0.217	0.57980	T	10	0.062436342	0.07982	T	0.025001	0.47983	D	0.212	0.50341	.	.	0.620452040969	0.61737	0.7994408849839622	0.79898	0.724568702851	0.62404	0.648605585098	0.59788	T	0.517329	0.83054	D	-0.262716	0.12584	T	-0.195702	0.55053	T	0.213989717639888	0.21159	T	0.936406	0.77188	D	0.81826746	0.85103	0.6311674	0.78483	0.81826746	0.85104	0.6311674	0.78484	-10.464	0.76640	D	.	.	0.372	0.69645	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.579751	0.72335	25.8	0.94110522974692223	0.24281	0.95262	0.64041	D	AEFDBHCI	0.840740	0.75800	D	0.626127100257961	0.74831	6.200129	0.627635365699703	0.76952	6.587274	0.999999997915186	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	7.533000	0.80893	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.323	0.73848	14	0.98855	.;.;DUS-like, FMN-binding domain;.;.;DUS-like, FMN-binding domain;DUS-like, FMN-binding domain;.;.;DUS-like, FMN-binding domain;DUS-like, FMN-binding 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	1276.98	34	chr16	68049539	.	G	A	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.216;DP=794;ExcessHet=0.0000;FS=7.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.422;SOR=1.442	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1291,0,1096	20	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.63	M	-1.59	D	0.600	D	0.727	D	0.374	4.496	24.1	4.37	1.333	7.712	15.754	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	186.47	102	chr16	68828281	.	G	C	186.47	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-1.109e+00;DP=2532;ExcessHet=0.6776;FS=194.204;InbreedingCoeff=-0.2767;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=-3.430e-01;SOR=10.494	GT:AD:DP:GQ:PL	0/1:112,26:145:90:90,0,2263	7	0	4	10
chr16	70664970	70664970	C	T	exonic	MTSS2	.	nonsynonymous SNV	MTSS2:NM_138383:exon13:c.G1255A:p.G419R,	.	.	.	.	.	.	.	.	.	.	.	3378992	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.801	P	0.097	B	0.035	N	0.957	D	1.39	L	1.53	T	-1.069	T	0.047	T	0.367	1.996	12.63	4.87	2.233	1.107	11.200	0.093	0.0451684137376	7.7e-05	.	0.0002	0	0	0.0004	0	0.0003	0	0.0001	9.7e-05	15	154602	rs373050271	0.0001	0.0001	0.0001	0.0001	0.0002	9.492e-05	8.944e-05	0.0001	8.681e-05	0.0002	9.875e-05	0	0.0002	5.2e-05	0	0.0001	0.0001	9.674e-05	7.223e-05	7.218e-05	8.995e-05	5.372e-05	9.626e-05	3.969e-05	3.126e-05	3.763e-05	2.576e-05	9.626e-05	0	6.532e-05	0	0	0	0	8.822e-05	0	0	0.005	0.63226	D	0.028	0.54934	D	0.801	0.45051	P	0.097	0.30390	B	0.034744	0.24730	N	0.440033	0.956947	0.37999	D	1.61	0.41143	L	1.53	0.30401	T	-2.59	0.55821	D	0.421	0.51940	-1.0690	0.09634	T	0.047	0.20116	T	10	0.1251052	0.23770	T	0.045168	0.61848	D	0.093	0.26882	0.231	0.15855	0.082315109003	0.07666	0.21585719194891342	0.21501	0.0639425796524	0.07127	0.635812878609	0.57970	T	0.053922	0.29580	T	-0.335989	0.05670	T	-0.440967	0.28699	T	0.0320288858973844	0.02311	T	0.89491	0.63503	D	0.11053359	0.26126	0.15147582	0.35681	0.11053359	0.26126	0.15147582	0.35680	-4.27	0.27754	T	.	.	0.149	0.33016	B	.;.	.;.	2.871397	0.37970	20.6	0.99490233853810195	0.67403	0.51722	0.28962	D	AEFDBHCI	0.185470	0.31279	N	-0.251755688111535	0.31033	1.736165	-0.239095445007245	0.30149	1.695046	0.999581602290813	0.40607	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	0.940000	0.28589	2.541000	0.33216	0.549000	0.26987	0.000000	0.06391	0.074000	0.22270	0.171000	0.21011	0.0:0.9132:0.0:0.0868	11.200	0.47964	291	0.88420	.;.	.	.	.	.	.	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	1014.98	35	chr16	70664970	.	C	T	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=814;ExcessHet=0.0000;FS=1.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.361e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1029,0,1129	20	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.008	N	0.979	N	-2.25	N	1.83	T	-0.944	T	0.011	T	0.018	-1.985	0.007	2.3	0.074	0.490	7.931	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	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	0.125	329.21	41	chr16	70941764	.	T	C	329.21	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.36;DP=1795;ExcessHet=1.1607;FS=31.919;InbreedingCoeff=-0.1475;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-5.512e+00;QD=0.58;ReadPosRankSum=-2.458e+00;SOR=4.591	GT:AD:DP:GQ:PL	0/1:110,13:123:32:32,0,2909	15	0	5	1
chr16	71655313	71655313	C	T	exonic	PHLPP2	.	nonsynonymous SNV	PHLPP2:NM_001289003:exon16:c.G2311A:p.V771M	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	2.16	M	2.94	T	-1.133	T	0.090	T	0.682	5.015	29.5	5.57	2.612	4.963	18.541	0.191	0.0273186590112	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs761790804	6.157e-06	6.156e-06	4.084e-06	8.251e-06	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.656e-05	0	6.57e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.006	0.61437	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.915	0.51223	L	2.94	0.09728	T	-1.37	0.34397	N	0.623	0.69213	-1.1330	0.01644	T	0.090	0.34683	T	10	0.55421734	0.64426	D	0.027319	0.50142	D	0.191	0.46948	0.739	0.87147	0.704118753258	0.70154	0.4345504182772695	0.43372	0.362069930752	0.37861	0.730054020882	0.71514	T	0.032844	0.22661	T	-0.0210776	0.48701	T	-0.252567	0.49562	T	0.743129213245153	0.42906	D	0.951905	0.93484	D	0.3048192	0.53333	0.29259294	0.55286	0.3048192	0.53333	0.29259294	0.55285	-6.73	0.54659	T	.	.	0.638	0.71468	P	.;.;.	.;.;.	4.836818	0.78926	27.0	0.99920801724224018	0.98721	0.97922	0.78147	D	AEFBI	0.632342	0.61299	D	0.763475969101139	0.83779	8.107795	0.745189729164528	0.85797	8.689152	0.99999999998416	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	5.038000	0.63972	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.541	0.90981	91	0.96221	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1617.98	33	chr16	71655313	.	C	T	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.290;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=1.55;SOR=0.752	GT:AD:DP:GQ:PL	0/1:52,68:120:99:1632,0,1127	20	0	1	0
chr16	71982225	71982225	A	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon7:c.T977C:p.I326T,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs990480822	7.741e-06	6.842e-06	6.1e-06	9.433e-06	6.474e-05	3.91e-06	2.85e-06	1.072e-05	4.01e-06	0	6.474e-05	4.862e-05	0	0	0	5.941e-06	1.964e-05	0	1.364e-05	1.347e-05	2.654e-05	0	2.48e-05	2.27e-06	8.5e-07	.	.	2.48e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	0.107	0.37730	T	0.421	0.35387	B	0.086	0.29521	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.08483541	0.14259	T	.	.	.	.	.	.	.	0.130388298395	0.12655	0.07185639025437111	0.07122	.	.	0.480924427509	0.36184	T	0.014422	0.12283	T	-0.0644101	0.42216	T	-0.13198	0.60804	T	.	.	.	0.416558	0.10945	T	0.025855865	0.01572	0.08635124	0.20001	0.025855865	0.01571	0.08635124	0.20000	-2.869	0.08837	T	.	.	0.188	0.40457	B	.	.	0.762214	0.11320	7.941	0.66628433726496239	0.08115	0.00826	0.03330	N	AEFDHCI	.	.	.	.	.	.	.	.	.	0.931082602245109	0.27034	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0798854	0.18414	4.89	0.961	0.18758	0.560000	0.23204	1.974000	0.30001	0.745000	0.86679	0.001000	0.13787	0.002000	0.18203	0.241000	0.23027	0.5888:0.3013:0.1099:0.0	4.822	0.12759	101	0.95833	.	.	.	.	.	.	Uncertain significance	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	480.98	43	chr16	71982225	.	A	G	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=1.74;SOR=0.712	GT:AD:DP:GQ:PL	0/1:20,18:38:99:495,0,488	20	0	1	0
chr16	72056628	72056628	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G187A:p.D63N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.061	B	0.018	B	.	.	1.000	D	0.845	L	0.83	T	-1.093	T	0.071	T	0.097	0.448	6.432	1.84	0.349	0.957	6.785	0.030	0.0145613365833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.30515	T	0.177	0.92824	T	0.013	0.16609	B	0.008	0.13708	B	.	.	.	.	1	0.81001	D	1.81	0.47622	L	0.83	0.47815	T	-0.14	0.15782	N	0.128	0.16447	-1.0927	0.05097	T	0.071	0.28806	T	9	0.15194994	0.28711	T	0.014561	0.34757	T	0.030	0.07022	0.497	0.58678	0.289098819767	0.28531	0.11910103623453867	0.11837	0.236360420895	0.26171	0.543978989124	0.45008	T	0.324881	0.69565	T	-0.244522	0.14778	T	-0.589016	0.13751	T	0.06197302500585	0.07476	T	0.80472	0.45238	T	0.048287988	0.08393	0.048178136	0.07102	0.048287988	0.08392	0.048178136	0.07101	-7.594	0.58269	D	.	.	0.136	0.46745	B	.;.;.;.	.;.;.;.	1.315965	0.17197	13.02	0.69471451485269775	0.08983	0.43100	0.27024	N	AEFGBI	0.828597	0.74766	D	-0.672742401122374	0.16800	0.8591732	-0.597985029352194	0.19545	1.049141	0.744259064020968	0.23260	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	1.84	0.24348	1.037000	0.29850	3.140000	0.36479	0.594000	0.32500	0.822000	0.30018	1.000000	0.68203	0.052000	0.15357	0.2895:0.0:0.7105:0.0	6.785	0.22852	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	122.27	10	chr16	72056628	.	G	A	122.27	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.431;DP=288;ExcessHet=0.1524;FS=0.000;InbreedingCoeff=-0.1750;MLEAC=4;MLEAF=0.222;MQ=38.68;MQRankSum=0.00;QD=3.82;ReadPosRankSum=-3.660e-01;SOR=0.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,3:17:48:0|1:72056628_G_A:48,0,514:72056628	7	0	2	12
chr16	72056631	72056631	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	.	0.9976	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.750	7.976	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.805e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.857946	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.66874856	0.70584	D	0.143234	0.82557	D	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249212620448	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114526	0.65818	D	-0.0732684	0.65392	T	0.52836860971527	0.33674	D	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.312529	0.65933	24.9	0.77395238562230129	0.11858	0.89573	0.50124	D	AEFBI	0.966484	0.98891	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,3,0:16:51:0|1:72056628_G_A:51,0,480,90,489,578:72056628	2	0	4	14
chr16	72056631	72056631	G	C	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190C:p.G64R	.	.	.	.	.	.	.	.	.	0.9999	0.886	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.630	7.385	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.6627866	0.70252	D	.	.	.	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249074910103	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114535	0.65818	D	-0.0732555	0.65393	T	0.499475828049257	0.32610	T	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.045414	0.59928	24.2	0.75314754377524518	0.11027	0.91508	0.53678	D	AEFBI	0.967500	0.98997	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,3,0:16:51:0|1:72056628_G_A:51,0,480,90,489,578:72056628	2	0	4	14
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	0/1:121,110,0,0:231:99:3993,0,4549,4357,4885,9241,4357,4885,9241,9241	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	0/1:121,110,0,0:231:99:3993,0,4549,4357,4885,9241,4357,4885,9241,9241	16	0	3	0
chr16	74888296	74888296	C	T	exonic	WDR59	.	nonsynonymous SNV	WDR59:NM_030581:exon22:c.G2219A:p.R740Q,	.	.	433	1073	16	0	0	16	0.00740056	.	.	3356294	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.709	P	0.124	B	0.000	D	0.653	D	0.55	N	-0.27	T	-0.856	T	0.115	T	0.244	2.493	14.30	6.02	2.865	4.448	7.915	0.153	0.0127899907899	.	.	0.0002	0	0	0	0	6.338e-05	0	0.0011	0.0001488	23	154602	rs767371477	0.0001	0.0001	8.306e-05	0.0001	0.0021	0.0001	9.636e-05	0.0012	0.0010	2.989e-05	4.483e-05	7.653e-05	2.52e-05	0	0.0021	2.968e-05	0.0002	0.0013	3.947e-05	3.941e-05	3.858e-05	4.04e-05	0.0004	1.717e-05	1.13e-05	7.307e-05	3.035e-05	2.416e-05	0	0.0002	0	0	0	0	0	0	0.0004	0.399	0.10517	T	0.307	0.19908	T	0.355	0.33731	B	0.04	0.23831	B	0.000048	0.53742	D	0.164396	0.653184	0.32983	D	0.55	0.14455	N	-0.27	0.67367	T	-0.3	0.11913	N	0.301	0.34012	-0.8564	0.51520	T	0.115	0.40897	T	10	0.059230745	0.07087	T	0.01279	0.31668	T	0.153	0.40148	0.446	0.50466	0.845841685244	0.84436	0.1801451814062501	0.17933	0.277714302486	0.30255	0.478825569153	0.35895	T	0.022535	0.17359	T	-0.372965	0.03447	T	-0.349048	0.39314	T	0.080439621564902	0.10044	T	0.957904	0.84151	D	0.038109887	0.05015	0.034834333	0.02622	0.038109887	0.05015	0.034834333	0.02621	-3.125	0.11586	T	.	.	0.091	0.12985	B	.	.	3.968162	0.58246	24.0	0.99493450116431026	0.67573	0.92662	0.56241	D	AEFDBI	0.404737	0.47790	N	0.0823313918181039	0.45639	2.817132	0.279454450133582	0.54340	3.599407	0.999999999233427	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.474000	0.59936	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.741000	0.35472	0.0:0.8146:0.0:0.1854	7.915	0.28977	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	0.02381	900.98	35	chr16	74888296	.	C	T	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e+00;DP=853;ExcessHet=0.0000;FS=0.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.57;SOR=0.883	GT:AD:DP:GQ:PL	0/1:36,40:76:99:915,0,838	20	0	1	0
chr16	85710273	85710278	GCTGCT	-	exonic	C16orf74	.	nonframeshift deletion	C16orf74:NM_206967:exon3:c.58_63del:p.S20_S21del,	.	.	391	1107	21	2	1	26	0.0111657	.	.	2817885	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0071	0.0027	0.0071	0	0	0.0096	0	0.0059	0.0007684	20	26028	rs759324463	0.0071	0.0070	0.0071	0.0072	0.0081	0.0070	0.0070	0.0080	0.0079	0.0013	0.0041	0.0030	9.319e-05	0.0009	0.0081	0.0081	0.0063	0.0050	0.0048	0.0048	0.0052	0.0045	0.0088	0.0046	0.0044	0.0076	0.0072	0.0018	0	0.0088	0.0029	0	0.0006	0	0.0069	0.0085	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1412.94	35	chr16	85710272	.	GGCTGCT	G	1412.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=849;ExcessHet=0.0000;FS=3.268;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.48;ReadPosRankSum=-6.400e-01;SOR=0.404	GT:AD:DP:GQ:PL	0/1:32,37:69:99:1427,0,1231	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	1/2:0,51,50,0,0,0:101:99:4185,1873,1702,1930,0,1667,4010,1874,1895,3932,4010,1874,1895,3932,3932,4010,1874,1895,3932,3932,3932	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	1/2:0,51,50,0,0,0:101:99:4185,1873,1702,1930,0,1667,4010,1874,1895,3932,4010,1874,1895,3932,3932,4010,1874,1895,3932,3932,3932	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	1/2:0,51,50,0,0,0:101:99:4185,1873,1702,1930,0,1667,4010,1874,1895,3932,4010,1874,1895,3932,3932,4010,1874,1895,3932,3932,3932	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	1/2:0,51,50,0,0,0:101:99:4185,1873,1702,1930,0,1667,4010,1874,1895,3932,4010,1874,1895,3932,3932,4010,1874,1895,3932,3932,3932	4	4	6	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L,	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.006	B	.	.	1.000	N	0.55	N	0.93	T	-1.033	T	0.051	T	0.09	-0.010	3.964	-3.42	-0.624	-0.269	1.749	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Uncertain significance	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	851.14	104	chr16	88436039	.	G	C	851.14	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.850e+00;DP=2947;ExcessHet=1.7912;FS=169.057;InbreedingCoeff=-0.1947;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.04;SOR=12.397	GT:AD:DP:GQ:PL	0/1:126,53:179:99:112,0,2380	14	0	6	1
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	0/1:112,33:145:38:38,0,2654	5	0	12	4
chr16	89739527	89739527	G	T	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon40:c.C3961A:p.R1321S	Fanconi anemia, complementation group A, Autosomal recessive	.	4	1515	3	0	0	3	0.00098912	.	.	1309500	not_provided|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.826	P	0.339	B	0.585	N	1.000	N	1.04	L	-1.86	D	-0.726	T	0.338	T	0.469	0.615	7.310	0.677	0.283	0.709	1.326	0.334	0.0370754834498	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs755375493	1.072e-05	1.095e-05	1.128e-05	1.015e-05	0.0004	6.44e-06	5.11e-06	6.244e-05	2.578e-05	0	0	0	0	0	0.0004	1.112e-05	1.724e-05	0	1.971e-05	1.97e-05	0	4.034e-05	6.541e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.541e-05	0	0	0	0	2.939e-05	0	0	0.358	0.14793	T	0.446	0.61642	T	0.826	0.45919	P	0.339	0.42346	B	0.585116	0.11105	N	0.807090	1	0.08975	N	1.995	0.54099	M	-1.86	0.84341	D	-2.1	0.56301	N	0.12	0.15888	-0.7262	0.59154	T	0.338	0.70429	T	10	0.17256421	0.32036	T	0.037075	0.57392	D	0.334	0.65620	.	.	0.916997024894	0.91615	0.170257881624353	0.16945	.	.	0.244632318616	0.03223	T	0.189123	0.54325	T	-0.0420843	0.45639	T	-0.192942	0.55314	T	0.109454810619354	0.13366	T	0.668433	0.28305	T	0.17942259	0.39012	0.06397135	0.12750	0.17942259	0.39012	0.06397135	0.12750	-2.898	0.09123	T	0.3000395322763348	0.39734	0.194	0.58072	B	.;.;.	.;.;.	0.772317	0.11424	8.032	0.90853511709274992	0.20103	0.68035	0.33651	D	AEFBHCI	0.090189	0.18277	N	-0.448927799537438	0.23776	1.279209	-0.530567412337954	0.21324	1.153069	0.658067035755672	0.22240	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	0.677	0.17130	0.302000	0.18947	2.311000	0.32076	0.676000	0.76740	0.126000	0.23278	0.834000	0.27239	0.034000	0.13613	0.1801:0.1261:0.3967:0.297	1.326	0.01997	698	0.58074	.;.;.	.	.	.	.	.	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	474.98	45	chr16	89739527	.	G	T	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.102;DP=849;ExcessHet=0.0000;FS=3.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.15;SOR=0.251	GT:AD:DP:GQ:PL	0/1:23,17:40:99:489,0,637	20	0	1	0
chr16	89808341	89808341	C	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_001351830:exon5:c.G453T:p.W151C	Fanconi anemia, complementation group A, Autosomal recessive	YES	4	1517	1	0	0	1	0.000329489	.	.	1309498	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	D	1.000	D	2.175	M	0.88	T	-0.559	T	0.252	T	0.934	1.974	12.56	4.77	2.369	3.781	14.927	0.427	0.194019943109	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs758528624	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0002	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.496e-06	0	2.319e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.005	0.74150	D	1.0	0.90584	D	0.986	0.92359	D	0.000556	0.43413	D	0.000000	1	0.81001	D	2.25	0.63811	M	0.88	0.46028	T	-8.77	0.99702	D	0.876	0.87373	-0.5592	0.66434	T	0.252	0.62178	T	10	0.9698795	0.96558	D	0.19402	0.86338	D	0.427	0.73445	0.58	0.70604	0.688930815118	0.68626	0.5718420959205982	0.57112	.	.	0.591933786869	0.51767	T	0.682168	0.90678	D	0.245061	0.78137	D	0.129723	0.78876	D	0.992833137512207	0.83423	D	0.951005	0.81346	D	0.7413801	0.80371	0.64577407	0.79290	0.7413801	0.80373	0.64577407	0.79291	-3.454	0.15794	T	0.8807923258725571	0.93860	0.902	0.84477	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080942	0.60700	24.2	0.95898064750241074	0.28123	0.96910	0.71608	D	AEFBI	0.559895	0.56852	D	0.452757545788861	0.64360	4.688686	0.353227024816723	0.58703	4.04239	0.998483304634699	0.37052	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	4.077000	0.57320	7.438000	0.58849	0.539000	0.25131	0.999000	0.42656	1.000000	0.68203	0.046000	0.14843	0.0:1.0:0.0:0.0	14.927	0.70537	584	0.69381	Fanconi anaemia group A protein, N-terminal domain;.;.;Fanconi anaemia group A protein, N-terminal domain;Fanconi anaemia group A protein, N-terminal domain;Fanconi anaemia group A protein, N-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	1	0	0	0	0	0	0	0.02381	778.98	36	chr16	89808341	.	C	A	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.290;DP=860;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=0.197;SOR=0.763	GT:AD:DP:GQ:PL	0/1:63,33:96:99:793,0,1647	20	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2918.97	43	chr17	413815	.	C	T,*	2918.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-9.170e-01;DP=995;ExcessHet=1.0444;FS=2.763;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=51.80;MQRankSum=-3.755e+00;QD=7.60;ReadPosRankSum=-9.580e-01;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,10,0:41:99:0|1:413815_C_T:291,0,1272,385,1302,1687:413815	10	0	5	3
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3137.97	43	chr17	413822	.	C	A,*	3137.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-1.168e+00;DP=1002;ExcessHet=1.0444;FS=2.178;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.17;MQRankSum=-3.592e+00;QD=7.94;ReadPosRankSum=-4.250e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,11,0:44:99:0|1:413815_C_T:362,0,1353,462,1386,1848:413815	10	0	5	3
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3065.97	43	chr17	413824	.	C	T,*	3065.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.335;DP=1012;ExcessHet=1.0444;FS=2.500;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.20;MQRankSum=-3.428e+00;QD=7.59;ReadPosRankSum=-6.710e-01;SOR=0.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,13,0:46:99:0|1:413815_C_T:366,0,1350,465,1386,1851:413815	10	0	5	3
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3197.3	43	chr17	413831	.	A	G,*	3197.3	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.140;DP=1043;ExcessHet=1.1637;FS=2.534;InbreedingCoeff=0.0221;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.56;MQRankSum=-3.559e+00;QD=7.69;ReadPosRankSum=-1.155e+00;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,13,0:48:99:0|1:413815_C_T:362,0,1389,465,1424,1890:413815	10	0	5	3
chr17	443179	443179	G	A	exonic	RFLNB	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.492e-06	0	0	0	0	1.694e-05	0	0	6.5e-06	1	154602	rs782397815	1.37e-06	1.368e-06	0	2.754e-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	1.313e-05	1.312e-05	0	2.685e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	436.98	34	chr17	443179	.	G	A	436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.356e+00;DP=737;ExcessHet=0.0000;FS=1.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.57;ReadPosRankSum=0.775;SOR=0.475	GT:AD:DP:GQ:PL	0/1:30,21:51:99:451,0,877	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|1:42,42:84:99:0|1:2324277_A_T:1637,0,1632:2324277	18	0	3	0
chr17	3663755	3663755	A	G	exonic	TAX1BP3	.	nonsynonymous SNV	TAX1BP3:NM_001204698:exon3:c.T290C:p.L97P	.	.	419	1061	39	3	0	45	0.020766	.	.	1948661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.096	B	0.006	B	0.135	U	1.000	D	0	N	2.48	T	-1.024	T	0.014	T	0.51	2.700	14.99	5.05	2.038	4.343	10.458	0.088	.	0.0056	0.00559105	0.0076	0.0008	0.0042	0	0.0117	0.0079	0.0112	0.0153	0.0065329	1010	154602	rs143045421	0.0069	0.0069	0.0066	0.0072	0.0177	0.0068	0.0067	0.0147	0.0140	0.0010	0.0055	0.0188	0	0.0135	0.0177	0.0061	0.0072	0.0150	0.0061	0.0061	0.0056	0.0066	0.0159	0.0058	0.0057	0.0131	0.0120	0.0009	0.0253	0.0067	0.0184	0.0004	0.0151	0.0136	0.0066	0.0052	0.0159	0.004	0.65419	D	0.011	0.64786	D	0.096	0.25489	B	0.006	0.12133	B	0.134888	0.18500	U	0.496538	0.999909	0.50806	D	0.69	0.16971	N	2.48	0.14657	T	0.08	0.06026	N	0.349	0.43995	-1.0236	0.22541	T	0.014	0.05417	T	10	0.0056372285	0.00125	T	.	.	.	0.088	0.25558	.	.	0.167679373172	0.16340	0.6078694356104023	0.60718	0.822542354302	0.67239	0.660965800285	0.61548	T	0.013844	0.11897	T	-0.450497	0.01122	T	-0.40756	0.32507	T	0.0197139498959932	0.00673	T	0.789121	0.42899	T	0.3396613	0.56253	0.27132738	0.53032	0.3704624	0.58620	0.27132738	0.53031	-4.721	0.33657	T	.	.	0.192	0.41187	B	.;.	.;.	4.457874	0.69356	25.4	0.99505271256979999	0.68264	0.85361	0.44486	D	AEFDBHCIJ	0.859156	0.77678	D	-0.141860665605888	0.35583	2.04563	0.0697369917087685	0.43037	2.613753	0.9999985346376	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	2.498000	0.45023	11.212000	0.89433	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8368:0.1632:0.0:0.0	10.458	0.43750	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	561.11	36	chr17	3663755	.	A	G	561.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.258;DP=689;ExcessHet=0.1072;FS=2.327;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=1.03;SOR=1.164	GT:AD:DP:GQ:PL	0/1:26,17:43:99:373,0,664	19	0	2	0
chr17	4555303	4555303	G	A	exonic	MYBBP1A	.	stopgain	MYBBP1A:NM_001105538:exon1:c.C22T:p.Q8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	0.022	N	0.000	P	.	.	.	.	.	.	.	.	.	8.483	40	4.08	1.325	0.812	13.597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021789	0.26762	N	0.340848	1.08505e-31	0.81001	P	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399883	0.89908	D	0.336628	0.89781	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.359783	0.95079	34	0.99709785534523143	0.81213	0.14346	0.18354	N	AEFGBHCIJ	0.025419	0.01737	N	0.141900574364266	0.48429	3.055294	-0.202917210802255	0.31431	1.778749	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	4.08	0.46880	0.383000	0.20381	1.287000	0.25388	-2.041000	0.00424	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.842:0.158:0.0	13.597	0.61460	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	13068.37	44	chr17	4555303	.	G	C,A	13068.37	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-5.810e-01;DP=1414;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.432;SOR=0.738	GT:AD:DP:GQ:PL	0/1:66,55,0:121:99:1239,0,1670,1437,1835,3272	14	2	4	0
chr17	4817149	4817149	A	G	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon17:c.A1705G:p.T569A	.	.	419	1085	18	0	0	18	0.00822669	.	.	755916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.013	B	0.026	B	0.000	D	0.692	N	1.875	L	1.98	T	-1.054	T	0.050	T	0.179	1.568	11.20	4.48	1.880	2.469	11.750	0.068	0.00592412599397	0.0007	0.00199681	0.0019	0.0005	0.0007	0	0.0041	0.0012	0.0033	0.0067	0.0017788	275	154602	rs137971062	0.0016	0.0017	0.0015	0.0018	0.0090	0.0016	0.0016	0.0071	0.0064	0.0001	0.0007	0.0035	0	0.0051	0.0090	0.0011	0.0027	0.0060	0.0014	0.0014	0.0013	0.0015	0.0060	0.0013	0.0012	0.0043	0.0037	0.0002	0	0.0016	0.0040	0	0.0049	0.0034	0.0012	0.0019	0.0060	0.444	0.09155	T	0.619	0.09555	T	0.001	0.07471	B	0.003	0.08700	B	0.000298	0.46274	D	0.223486	0.692358	0.30179	N	0.895	0.22405	L	1.98	0.31205	T	-0.52	0.16187	N	0.188	0.20528	-1.0537	0.13386	T	0.050	0.21339	T	10	0.008443952	0.00191	T	0.005924	0.15430	T	0.068	0.19811	.	.	0.465294738428	0.46155	0.3430681418602734	0.34219	0.135075783952	0.15223	0.470530569553	0.34753	T	0.047517	0.27747	T	-0.54391	0.00317	T	-0.551593	0.17174	T	0.0108779694914474	0.00155	T	0.69563	0.30512	T	0.13185768	0.30721	0.072045706	0.15499	0.13185768	0.30721	0.072045706	0.15498	-5.461	0.41502	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	2.943240	0.39137	20.9	0.95190821469706288	0.26372	0.82474	0.41696	D	AEFBI	0.279556	0.39358	N	-0.175559590233012	0.34153	1.946061	-0.0383187549246351	0.37999	2.232655	4.46765553341721E-4	0.07004	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.128000	0.41668	11.229000	0.90032	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.750	0.51108	447	0.79583	.;.;.	.	.	.	.	.	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	4411.11	36	chr17	4817149	.	A	G	4411.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=1061;ExcessHet=0.1072;FS=12.164;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.90;SOR=0.920	GT:AD:DP:GQ:PL	0/1:103,110:213:99:2658,0,2548	19	0	2	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	2/2:2,0,152:154:99:.:.:5365,5371,5409,453,491,0	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	1/1:2,152,0:154:99:.:.:5365,453,0,5371,491,5409	0	10	6	1
chr17	5559097	5559097	C	A	exonic	NLRP1	.	nonsynonymous SNV	NLRP1:NM_001033053:exon4:c.G1599T:p.Q533H	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing	.	0	1504	18	0	0	18	0.00594845	.	.	613091	not_provided|NLRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.975	D	0.149	N	0.977	N	2.955	M	-0.53	T	-0.572	T	0.392	T	0.624	3.172	16.61	1.14	0.566	0.544	2.58	0.415	0.0258884689747	0.0056	0.00219649	0.0043	0.0025	0.0030	0.0002	0.0014	0.0064	0.0055	0.0007	0.0044566	689	154602	rs112191372	0.0057	0.0057	0.0059	0.0056	0.0069	0.0056	0.0056	0.0064	0.0063	0.0014	0.0038	0.0111	0	0.0011	0.0069	0.0065	0.0073	0.0013	0.0045	0.0045	0.0050	0.0040	0.0068	0.0043	0.0041	0.0063	0.0061	0.0016	0.0088	0.0054	0.0115	0	0.0007	0.0068	0.0068	0.0057	0.0010	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.975	0.73362	D	0.149021	0.18031	N	0.409242	0.976765	0.25354	N	.	.	.	-0.57	0.71662	T	-4.52	0.78302	D	0.141	0.28498	-0.5717	0.65947	T	0.392	0.74561	T	10	0.012996584	0.00277	T	0.025888	0.48835	D	0.415	0.72555	0.763	0.89133	0.936058559648	0.93539	0.5814024575733019	0.58069	0.74828439397	0.63630	0.274539232254	0.06742	T	0.089643	0.38415	T	-0.224033	0.17447	T	-0.0904387	0.64129	T	0.0460306935496564	0.04790	T	0.736726	0.35329	T	0.25230798	0.48245	0.28919536	0.54939	0.29878113	0.52795	0.27435258	0.53361	-9.53	0.71387	D	0.6874355190716821	0.76469	0.569	0.67594	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.962101	0.24926	16.58	0.99718167395379842	0.81843	0.65202	0.32659	D	AEFBCI	0.162471	0.28865	N	0.37151880019501	0.59883	4.171697	0.245661772629334	0.52402	3.415343	0.00509955563897757	0.10825	0.706548	0.73137	0	0.724815	0.89359	0	0.59043	0.30614	0	0.714379	0.83352	0	.	.	4.38	1.14	0.19817	1.484000	0.35116	-0.083000	0.12153	0.598000	0.34611	1.000000	0.71638	0.405000	0.24731	0.613000	0.31716	0.1953:0.5112:0.1892:0.1043	2.58	0.04524	706	0.57215	.;.;NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase;.;.;.;NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase	.	.	.	.	rs112191372	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	2363.98	38	chr17	5559097	.	C	A	2363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.218e+00;DP=1094;ExcessHet=0.0000;FS=4.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=1.87;SOR=0.954	GT:AD:DP:GQ:PL	0/1:80,90:170:99:2378,0,2138	20	0	1	0
chr17	6428382	6428382	T	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033055:exon2:c.A221T:p.Y74F	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	193626	not_specified|not_provided|Leber_congenital_amaurosis_1|Leber_congenital_amaurosis_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.992	D	0.000	D	1.000	D	1.84	L	-2.84	D	0.449	D	0.724	D	0.819	3.643	18.52	4.9	1.962	7.691	12.772	0.845	0.0542788300811	0.0055	0.00199681	0.0042	0.0013	0.0029	0	0.0008	0.0061	0.0055	0.0026	0.0045924	710	154602	rs16955851	0.0060	0.0060	0.0061	0.0058	0.0071	0.0059	0.0058	0.0069	0.0069	0.0012	0.0033	0.0015	7.557e-05	0.0010	0.0014	0.0071	0.0046	0.0036	0.0039	0.0039	0.0042	0.0037	0.0067	0.0037	0.0036	0.0062	0.0060	0.0010	0	0.0047	0.0009	0.0004	0.0009	0	0.0067	0.0038	0.0025	0.116	0.28395	T	0.153	0.36101	T	0.655	0.77913	P	0.534	0.80445	P	0.000001	0.62929	D	0.058346	1	0.81001	D	2.5	0.72771	M	-2.84	0.91305	D	-2.43	0.53258	N	0.706	0.70966	0.449	0.89824	D	0.724	0.90528	D	10	0.024469852	0.00674	T	0.054279	0.65794	D	0.845	0.95175	.	.	0.898978955884	0.89797	0.6039856871579568	0.60329	0.51877166463	0.49718	0.683971405029	0.64840	T	0.373314	0.73733	T	-0.0286213	0.47618	T	0.195506	0.82880	D	0.0187121677499424	0.00584	T	0.756224	0.47330	T	0.645341	0.75116	0.26124224	0.51899	0.6295265	0.74274	0.29161036	0.55185	-8.627	0.68842	D	0.1842315181648148	0.23885	0.105	0.22933	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.954110	0.57946	23.9	0.98069804036237018	0.38015	0.97809	0.77292	D	AEFDBI	0.945785	0.95449	D	0.540172950503722	0.69485	5.363687	0.554326964236477	0.71699	5.694818	0.999993677732639	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	7.667000	0.82852	7.796000	0.69015	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.772	0.56806	872	0.31118	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1295.98	34	chr17	6428382	.	T	A	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=844;ExcessHet=0.0000;FS=4.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.012;SOR=0.803	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1310,0,1415	20	0	1	0
chr17	7217773	7217773	C	T	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001270447:exon2:c.C86T:p.T29I,	VLCAD deficiency, Autosomal recessive	.	11	1509	2	0	0	2	0.000662252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.032	B	0.025	B	.	.	1.000	N	.	.	-4.17	D	-0.036	T	0.721	D	0.097	2.619	14.72	-1.39	0.009	0.097	2.019	0.241	0.480318800563	.	.	.	.	.	.	.	.	.	.	.	.	.	rs915000249	1.301e-05	1.231e-05	1.142e-05	1.465e-05	0.0004	8.13e-06	6.71e-06	6.167e-05	2.549e-05	0	8.408e-05	0	0	0	0.0004	1.205e-05	0	0	6.58e-06	6.569e-06	1.286e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.20103	N	.	.	.	-4.17	0.96855	D	0.27	0.04306	N	0.216	0.24135	-0.0365	0.81494	T	0.721	0.90426	D	8	0.16234088	0.30427	T	0.480319	0.94830	D	0.241	0.54641	0.196	0.10839	0.713223608057	0.71071	0.19950035657339535	0.19867	0.579052114772	0.53792	.	.	.	.	.	.	-0.148737	0.28511	T	-0.214759	0.53240	T	0.201615211215576	0.20504	T	0.364964	0.08484	T	.	.	.	.	.	.	.	.	-4.481	0.30639	T	.	.	0.129	0.27463	B	.	.	1.981476	0.25175	16.67	0.91837938175686951	0.21149	0.21420	0.21395	N	AEFDGBHCI	0.086578	0.17555	N	-0.477760215342318	0.22812	1.220649	-0.450011008645678	0.23548	1.284763	0.999999769864695	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	3.88	-1.39	0.08526	-0.103000	0.10909	0.764000	0.21339	0.577000	0.29297	0.041000	0.21027	0.988000	0.31051	0.996000	0.76049	0.1787:0.2965:0.3916:0.1332	2.019	0.03292	390	0.83257	.	.	.	.	.	.	Uncertain significance	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	852.98	34	chr17	7217773	.	C	T	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.949e+00;DP=774;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=2.25;SOR=0.497	GT:AD:DP:GQ:PL	0/1:27,35:62:99:867,0,714	20	0	1	0
chr17	7436176	7436196	TCCGTTCCCTTTTTTTAGGTC	-	exonic	TMEM102	.	nonframeshift deletion	TMEM102:NM_001320444:exon2:c.215_217del:p.G72_L73delinsV	.	.	392	1118	12	0	0	12	0.00533808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00279553	0.0071	0.0017	0.0038	0.0001	0.0056	0.0109	0.0068	0.0012	0.001191	31	26028	rs537361079	0.0081	0.0080	0.0082	0.0080	0.0095	0.0080	0.0079	0.0093	0.0092	0.0012	0.0040	0.0061	2.532e-05	0.0066	0.0040	0.0095	0.0068	0.0016	0.0060	0.0060	0.0062	0.0059	0.0098	0.0057	0.0056	0.0092	0.0089	0.0017	0	0.0053	0.0063	0.0002	0.0047	0.0102	0.0098	0.0076	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1954.94	35	chr17	7436175	.	ATCCGTTCCCTTTTTTTAGGTC	A	1954.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=914;ExcessHet=0.0000;FS=8.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-3.200e-01;SOR=1.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,58:194:99:0|1:7436167_C_G:1969,0,5477:7436167	20	0	1	0
chr17	7436563	7436563	G	T	exonic	TMEM102	.	nonsynonymous SNV	TMEM102:NM_001320444:exon2:c.G584T:p.S195I	.	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.047	B	0.017	B	0.435	N	1.000	N	1.1	L	0.84	T	-0.982	T	0.096	T	0.147	0.680	7.637	-1.6	-0.429	0.151	5.041	0.015	0.0193073618394	7.7e-05	0.00139776	0.0007	0	0	0.0001	0	0.0002	0	0.0040	0.0005886	91	154602	rs141257669	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	2.987e-05	2.236e-05	3.826e-05	0	5.632e-05	0.0007	0.0002	0.0003	0.0046	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.405e-05	0	6.533e-05	0	0	0	0	0.0003	0	0.0050	0.022	0.48642	D	0.039	0.51112	D	0.047	0.21998	B	0.017	0.18140	B	0.434760	0.04725	N	1.333950	1	0.08975	N	1.1	0.28011	L	0.84	0.47477	T	0.33	0.03889	N	0.099	0.11197	-0.9817	0.34608	T	0.096	0.36107	T	10	0.0027632415	0.00043	T	0.019307	0.41638	T	0.015	0.02232	.	.	0.218112801441	0.21410	0.214915129252313	0.21407	.	.	0.233794212341	0.02260	T	0.003231	0.02636	T	-0.556837	0.00265	T	-0.572094	0.15259	T	0.0130386946298498	0.00227	T	.	.	.	0.1353944	0.31424	0.05465924	0.09443	0.1353944	0.31424	0.05465924	0.09443	-5.857	0.45067	T	.	.	0.106	0.19919	B	.;.	.;.	1.236927	0.16323	12.46	0.95449092448098494	0.26966	0.07728	0.13729	N	ALL	0.056827	0.10537	N	-1.09987454326042	0.06646	0.3065273	-1.16062008243892	0.06579	0.3171468	0.999999999921669	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.3	-1.6	0.07977	0.252000	0.18046	1.109000	0.24140	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4415:0.1477:0.4109:0.0	5.041	0.13797	301	0.87912	.;.	.	.	.	.	.	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	2894.98	35	chr17	7436563	.	G	T	2894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.145e+00;DP=916;ExcessHet=0.0000;FS=4.066;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-7.990e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:90,109:199:99:2909,0,2264	20	0	1	0
chr17	7437217	7437217	A	G	exonic	TMEM102	.	nonsynonymous SNV	TMEM102:NM_001320444:exon2:c.A1238G:p.Y413C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.986	D	0.000	D	0.973	D	1.1	L	3.1	T	-1.139	T	0.045	T	0.79	3.813	19.36	5.18	1.952	5.557	11.407	0.252	0.0878034843168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.000354	0.45440	D	0.000000	0.972869	0.38979	D	1.61	0.41143	L	3.1	0.08283	T	-2.61	0.56144	D	0.688	0.71498	-1.1390	0.01396	T	0.045	0.19194	T	10	0.74049985	0.74923	D	0.087803	0.75008	D	0.252	0.56159	0.523	0.62668	0.395595088485	0.39173	0.6142878255820265	0.61360	.	.	0.93282020092	0.99139	D	0.032255	0.22404	T	0.0259159	0.55177	T	-0.20055	0.54595	T	0.969409108161926	0.68578	D	.	.	.	0.21149339	0.43475	0.18444009	0.41496	0.21149339	0.43475	0.18444009	0.41495	-5.214	0.39084	T	.	.	0.678	0.73153	P	.;.	.;.	4.914857	0.80898	27.4	0.99703130366356252	0.80798	0.53130	0.29297	D	ALL	0.740362	0.68463	D	0.553700528878806	0.70309	5.482478	0.563234359752547	0.72324	5.79179	1.0	0.98316	0.652421	0.48094	0	0.748881	0.99253	0	0.47417	0.07244	0	0.618803	0.45993	0	.	.	5.18	5.18	0.71140	4.626000	0.60968	9.116000	0.78823	0.658000	0.54486	0.950000	0.33075	1.000000	0.68203	0.964000	0.52637	1.0:0.0:0.0:0.0	11.407	0.49146	301	0.87912	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 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	802.98	28	chr17	7437217	.	A	G	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=713;ExcessHet=0.0000;FS=1.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.644;SOR=1.022	GT:AD:DP:GQ:PL	0/1:22,27:49:99:817,0,586	20	0	1	0
chr17	7670630	7670630	C	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon6:c.G683T:p.G228V	Adrenal cortical carcinoma, Autosomal recessive;Breast cancer, Autosomal dominant;Choroid plexus papilloma, Autosomal dominant;Colorectal cancer, Autosomal dominant;Hepatocellular carcinoma, Somatic mutation;Li-Fraumeni syndrome, Autosomal dominant;Nasopharyngeal carcinoma;Osteosarcoma, Autosomal recessive;Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial	YES	.	.	.	.	.	.	.	.	.	152266	Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.012	B	0.04	B	0.664	N	0.996	N	2.25	M	-5.49	D	0.716	D	0.921	D	0.15	-0.563	1.459	0.932	-0.279	-0.015	4.719	0.325	0.195512277915	.	.	5.224e-05	0	0	0	0.0002	7.82e-05	0	0	3.88e-05	6	154602	rs35993958	4.174e-05	4.173e-05	4.765e-05	3.576e-05	6.711e-05	3.311e-05	3.001e-05	3.343e-05	2.956e-05	0	6.711e-05	0	2.519e-05	9.365e-05	0	4.317e-05	3.312e-05	2.32e-05	8.544e-05	8.537e-05	2.57e-05	0.0001	6.556e-05	4.958e-05	3.964e-05	1.171e-05	6.25e-06	2.412e-05	0	6.556e-05	0	0	0.0008	0	4.41e-05	0	0	0.316	0.13744	T	0.257	0.25591	T	0.012	0.16265	B	0.04	0.23831	B	0.663504	0.10406	N	0.845077	0.996369	0.23037	N	1.75	0.45442	L	-5.49	0.99138	D	0.68	0.02228	N	0.365	0.45520	0.716	0.93374	D	0.921	0.97395	D	10	0.09957361	0.18079	T	0.195512	0.86426	D	0.325	0.64725	0.155	0.05858	0.755418883554	0.75320	0.3404412619522595	0.33957	0.132162359655	0.14894	0.256064116955	0.04433	T	0.36885	0.73367	T	-0.123809	0.32502	T	-0.211069	0.53594	T	0.0192148322353784	0.00628	T	0.531747	0.20891	T	0.05720615	0.11356	0.07868565	0.17647	0.05720615	0.11356	0.07868565	0.17647	-5.048	0.37780	T	0.38327875784568266	0.47741	0.077	0.10739	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.164379	0.05545	2.003	0.27338565953744215	0.01352	0.19982	0.20870	N	AEFBI	0.214301	0.33979	N	-1.37262766822357	0.02897	0.1286086	-1.4143170476447	0.03108	0.144354	1.05561642023614E-4	0.05123	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	0.932	0.18591	0.024000	0.13447	0.573000	0.19627	-0.816000	0.03012	0.000000	0.06391	0.097000	0.22620	0.092000	0.17891	0.0:0.3948:0.1635:0.4417	4.719	0.12291	450	0.79359	.;.;.;.;.;.;.;.	.	.	.	.	.	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	899.98	35	chr17	7670630	.	C	A	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.610;SOR=0.760	GT:AD:DP:GQ:PL	0/1:36,35:71:99:914,0,898	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,60,0,0,0,0:60:99:2610,179,0,2612,181,2613,2612,181,2613,2613,2612,181,2613,2613,2613,2612,181,2613,2613,2613,2613	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,60,0,0,0,0:60:99:2610,179,0,2612,181,2613,2612,181,2613,2613,2612,181,2613,2613,2613,2612,181,2613,2613,2613,2613	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,60,0,0,0,0:60:99:2610,179,0,2612,181,2613,2612,181,2613,2613,2612,181,2613,2613,2613,2612,181,2613,2613,2613,2613	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,60,0,0,0,0:60:99:2610,179,0,2612,181,2613,2612,181,2613,2613,2612,181,2613,2613,2613,2612,181,2613,2613,2613,2613	0	14	0	0
chr17	11558036	11558036	G	A	exonic	SHISA6	.	nonsynonymous SNV	SHISA6:NM_001173461:exon4:c.G1235A:p.R412Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.652	P	0.000	D	0.988	D	1.59	L	.	.	-0.698	T	0.147	T	0.361	5.155	32	5.72	2.705	4.151	18.457	0.120	.	0.0020	0.00359425	0.0010	0.0073	0.0027	0	0	0.0004	0	0	0.0002781	43	154602	rs114484608	0.0003	0.0003	0.0003	0.0003	0.0097	0.0003	0.0003	0.0088	0.0085	0.0097	0.0004	0	0	0	0.0002	3.337e-05	0.0008	5.049e-05	0.0029	0.0029	0.0030	0.0028	0.0102	0.0027	0.0026	0.0094	0.0091	0.0102	0	0.0006	0	0	0	0	2.94e-05	0.0024	0	0.004	0.65419	D	0.166	0.31326	T	0.981	0.73220	D	0.535	0.52532	P	0.000360	0.45440	D	0.183275	0.988169	0.40715	D	1.79	0.46772	L	.	.	.	-1.38	0.34198	N	0.336	0.45615	-0.6982	0.60524	T	0.147	0.47255	T	9	0.003870368	0.00073	T	.	.	.	0.120	0.33359	.	.	0.0806252709748	0.07271	0.3696071561786514	0.36874	.	.	0.496246039867	0.38304	T	0.015313	0.12869	T	-0.320627	0.06847	T	-0.22394	0.52357	T	0.0345947024509718	0.02739	T	0.954504	0.82682	D	0.17949188	0.39023	0.15392211	0.36147	0.17949188	0.39023	0.15392211	0.36146	-4.532	0.32670	T	.	.	0.105	0.21653	B	.;.;.	.;.;.	5.236521	0.87907	29.4	0.99928129543709454	0.99222	0.94824	0.62456	D	AEFDBI	0.705498	0.66086	D	0.557375807088578	0.70532	5.515398	0.5975573746373	0.74765	6.192872	0.759780541372212	0.23491	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	6.269000	0.72536	8.592000	0.77691	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	18.457	0.90670	657	0.62240	.;.;.	.	.	.	.	.	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	2375.98	35	chr17	11558036	.	G	A	2375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.53;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=-1.640e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/1:71,75:146:99:2390,0,1917	20	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M,	.	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.986	D	0.811	U	1.000	N	2.57	M	1.34	T	-0.884	T	0.189	T	0.323	1.019	9.162	-2.89	-0.585	-0.947	5.239	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	0.07143	6446.68	35	chr17	15738743	.	G	T	6446.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.76;DP=1250;ExcessHet=0.3300;FS=3.245;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=47.07;MQRankSum=-6.547e+00;QD=11.55;ReadPosRankSum=-8.360e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:150,74:224:99:1666,0,3603	18	0	3	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,20,0:217:54:0|1:17793779_CCAG_C:54,0,6398,646,6459,7105:17793779	12	0	7	0
chr17	28496480	28496480	G	A	exonic	SLC13A2	.	nonsynonymous SNV	SLC13A2:NM_001145975:exon11:c.G1648A:p.V550I	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.826	P	0.32	B	0.000	N	1.000	D	1.03	L	4.04	T	-0.754	T	0.007	T	0.208	2.097	12.97	4.57	1.343	3.789	10.231	0.095	0.00834960002313	0.0016	0.00179712	0.0004	0.0049	0	0	0	1.503e-05	0.0011	0	0.000401	62	154602	rs149423247	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0061	0.0058	0.0069	0.0002	0	2.533e-05	0	0.0005	4.234e-05	0.0005	4.655e-05	0.0015	0.0015	0.0015	0.0015	0.0052	0.0014	0.0013	0.0046	0.0044	0.0052	0	0.0003	0	0	0	0	7.352e-05	0.0019	0.0002	0.513	0.10623	T	0.764	0.04571	T	0.649	0.40609	P	0.272	0.39956	B	0.000016	0.62929	N	0.115071	0.999857	0.49910	D	0.95	0.23787	L	4.04	0.03121	T	-0.45	0.14782	N	0.266	0.30118	-0.7538	0.57736	T	0.007	0.02598	T	10	0.008839399	0.00200	T	0.00835	0.22105	T	0.095	0.27398	.	.	0.130388298395	0.12655	0.563346317858115	0.56261	0.407547590228	0.41615	0.52050280571	0.41697	T	0.045584	0.27166	T	-0.531	0.00379	T	-0.534568	0.18833	T	0.10989507263741	0.13412	T	0.783522	0.43364	T	0.08286579	0.19110	0.098743625	0.23552	0.08286579	0.19110	0.098743625	0.23552	-3.363	0.15656	T	.	.	0.088	0.11558	B	.;.	.;.	2.267897	0.28984	17.98	0.96082842581517114	0.28659	0.93460	0.58276	D	AEFDGBHI	0.502253	0.53475	D	0.0881748865458003	0.45912	2.839893	0.203955976076411	0.50067	3.202644	0.999986334131655	0.51787	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.54	4.57	0.55860	4.064000	0.57221	0.689000	0.20746	0.676000	0.76740	1.000000	0.71638	0.092000	0.22550	0.986000	0.61781	0.1497:0.0:0.8503:0.0	10.231	0.42435	152	0.94023	.;.	.	.	.	.	.	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	1419.98	33	chr17	28496480	.	G	A	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=823;ExcessHet=0.0000;FS=3.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-8.140e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1434,0,1375	20	0	1	0
chr17	29074800	29074801	TG	-	exonic	MYO18A	.	frameshift deletion	MYO18A:NM_001346767:exon40:c.5978_5979del:p.T1993Rfs*8	.	.	432	1089	1	0	0	1	0.000458926	.	.	3209394	MYO18A-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00179712	0.0003	0.0039	0	0	0	0	0	0	0.0003105	48	154602	rs144652932	0.0001	0.0001	0.0001	9.352e-05	0.0042	0.0001	9.701e-05	0.0036	0.0034	0.0042	6.708e-05	0	0	0	0.0002	0	0.0004	5.797e-05	0.0011	0.0011	0.0011	0.0010	0.0038	0.0009	0.0009	0.0033	0.0031	0.0038	0	0.0003	0	0	0	0	0	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1754.94	38	chr17	29074799	.	CTG	C	1754.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=823;ExcessHet=0.0000;FS=10.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.95;ReadPosRankSum=1.52;SOR=0.708	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1769,0,2405	20	0	1	0
chr17	29090907	29090907	C	T	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346767:exon34:c.G5096A:p.R1699H	.	.	424	1097	1	0	0	1	0.000455581	.	.	3204017	MYO18A-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.986	D	0.000	D	1.000	D	2.215	M	-1.48	T	0.353	D	0.624	D	0.474	4.805	27.1	4.8	2.657	5.567	18.029	0.473	0.150181650347	0.0014	0.00179712	0.0003	0.0040	0	0	0	0	0	0	0.0003299	51	154602	rs115455253	0.0001	0.0001	0.0002	0.0001	0.0043	0.0001	0.0001	0.0037	0.0035	0.0043	6.708e-05	0	2.519e-05	0	0.0002	5.397e-06	0.0004	5.797e-05	0.0011	0.0011	0.0011	0.0011	0.0039	0.0010	0.0009	0.0034	0.0032	0.0039	0	0.0003	0	0	0	0	0	0.0019	0.0004	0.061	0.37118	T	0.014	0.69154	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.049156	0.999195	0.81001	D	2.395	0.69210	M	-1.48	0.82897	T	-3.53	0.68532	D	0.711	0.71410	0.353	0.88390	D	0.624	0.86755	D	10	0.013309181	0.00283	T	0.150182	0.83190	D	0.473	0.76619	.	.	0.805609722091	0.80379	0.29669887922783494	0.29582	1.03166776097	0.75447	0.680241346359	0.64302	T	0.094083	0.39344	T	-0.234519	0.16055	T	-0.109518	0.62650	T	0.112886545486963	0.13720	T	0.976102	0.91674	D	0.3307137	0.55530	0.22893453	0.47950	0.3307137	0.55530	0.22893453	0.47949	-9.534	0.72815	D	.	.	0.08	0.16407	B	.;.;.;.	.;.;.;.	5.379578	0.90159	31	0.99936857397863865	0.99661	0.93979	0.59750	D	AEFDBHCI	0.713572	0.66633	D	0.731937032167662	0.81726	7.590185	0.693559075039772	0.81888	7.633502	0.999999999999996	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	4.701000	0.61496	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.029	0.89202	246	0.90367	.;.;.;.	.	.	.	.	.	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	1172.98	34	chr17	29090907	.	C	T	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=786;ExcessHet=0.0000;FS=2.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-5.940e-01;SOR=1.072	GT:AD:DP:GQ:PL	0/1:28,43:71:99:1187,0,626	20	0	1	0
chr17	30203175	30203175	T	G	exonic	SLC6A4	.	nonsynonymous SNV	SLC6A4:NM_001045:exon14:c.A1815C:p.K605N,	.	.	426	1091	5	0	0	5	0.00228624	.	.	343996	Behavior_disorder	MedGen:C0004930	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.228	B	0.323	B	0.000	D	0.999	D	0	N	-0.87	T	-1.043	T	0.060	T	0.348	2.145	13.13	-0.691	-0.069	0.573	11.294	0.255	.	0.0004	0.00858626	0.0062	0	0	0.0299	0.0443	0.0026	0.0122	0.0010	0.0052845	817	154602	rs6352	0.0031	0.0031	0.0031	0.0031	0.0381	0.0030	0.0030	0.0365	0.0358	2.991e-05	2.241e-05	0	0.0381	0.0408	0.0010	0.0005	0.0031	0.0009	0.0048	0.0049	0.0029	0.0069	0.0331	0.0046	0.0044	0.0291	0.0275	4.81e-05	0	6.534e-05	0	0.0331	0.0437	0	0.0013	0.0028	0.0012	0.145	0.25154	T	0.211	0.26631	T	0.228	0.30509	B	0.323	0.41825	B	0.000000	0.84330	D	0.089003	0.999481	0.47237	D	1.65	0.42232	L	-0.87	0.74583	T	-2.74	0.58248	D	0.587	0.60749	-1.0426	0.16532	T	0.060	0.25054	T	10	0.005604863	0.00124	T	.	.	.	0.255	0.56562	0.158	0.06178	0.280695755116	0.27685	0.8949349391608091	0.89464	1.23342835763	0.81408	0.532474398613	0.43383	T	0.731039	0.92472	D	-0.394518	0.02514	T	-0.299247	0.44803	T	0.0784977814703356	0.09795	T	0.867413	0.56831	D	0.61771274	0.73641	0.39346376	0.64065	0.53450614	0.69088	0.34594852	0.60269	-9.131	0.68536	D	0.3459608604563649	0.44346	0.486	0.63923	A	.;.;.	.;.;.	2.653941	0.34557	19.66	0.98431265892724673	0.41397	0.87794	0.47456	D	AEFGBI	0.609021	0.59838	D	-0.752430573025061	0.14566	0.7267378	-0.635461719448185	0.18584	0.9934266	0.00248460145989192	0.09470	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.17	-0.691	0.10737	0.852000	0.27417	0.119000	0.14890	-0.859000	0.02647	1.000000	0.71638	0.944000	0.28851	0.762000	0.36218	0.0:0.5208:0.0:0.4792	11.294	0.48500	616	0.66398	.;.;.	.	.	.	.	rs6352	Likely benign	0	0	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	797.98	34	chr17	30203175	.	T	G	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.672e+00;DP=785;ExcessHet=0.0000;FS=0.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=0.119;SOR=0.586	GT:AD:DP:GQ:PL	0/1:58,35:93:99:812,0,1678	20	0	1	0
chr17	30894566	30894566	A	G	exonic	ATAD5	.	nonsynonymous SNV	ATAD5:NM_024857:exon22:c.A5300G:p.N1767S,	.	.	0	225	1	0	0	1	0.00221729	.	.	3210092	ATAD5-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.003	B	0.003	B	0.282	N	1.000	N	-0.92	N	3.16	T	-0.922	T	0.004	T	0.002	-0.190	3.076	-0.38	-0.099	0.700	5.751	0.023	.	0.0058	0.00539137	0.0021	0.0139	0.0020	0	0.0002	0.0011	0.0056	0.0001	0.0021022	325	154602	rs114345202	0.0014	0.0014	0.0014	0.0013	0.0159	0.0013	0.0013	0.0147	0.0143	0.0159	0.0038	0.0042	0	9.442e-05	0.0101	0.0009	0.0032	0.0001	0.0055	0.0055	0.0054	0.0056	0.0144	0.0052	0.0051	0.0134	0.0130	0.0144	0	0.0082	0.0032	0	0.0002	0.0170	0.0011	0.0095	0.0004	0.476	0.08335	T	0.716	0.05416	T	0.003	0.11197	B	0.003	0.08700	B	0.282249	0.14923	N	0.706131	0.999741	0.20516	N	-0.09	0.04745	N	3.16	0.07711	T	-0.46	0.14978	N	0.06	0.03175	-0.9218	0.45307	T	0.004	0.01125	T	10	0.0034610927	0.00061	T	.	.	.	0.023	0.04649	.	.	0.082315109003	0.07666	0.09155261886103465	0.09088	0.0956850326144	0.10811	0.242986291647	0.03066	T	0.036615	0.24171	T	-0.731291	0.00023	T	-0.810901	0.01645	T	0.000257637940343668	0.00002	T	0.621638	0.23898	T	0.026675746	0.01755	0.023402303	0.00354	0.026675746	0.01754	0.023402303	0.00354	-2.255	0.04316	T	.	.	0.062	0.01367	B	.	.	2.502882	0.32310	19.00	0.57019158543541715	0.05677	0.15600	0.18991	N	AEFGBI	0.045345	0.07404	N	-1.02512109945197	0.08084	0.3778508	-0.85843320085775	0.13085	0.6768554	0.175108867908831	0.17793	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.59	-0.38	0.11868	0.725000	0.25638	1.541000	0.27227	-0.113000	0.14837	0.932000	0.32345	1.000000	0.68203	0.981000	0.58702	0.4172:0.0:0.441:0.1418	5.751	0.17415	849	0.35778	.	.	.	.	.	.	Likely benign	0	0	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	1474.98	33	chr17	30894566	.	A	G	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.507e+00;DP=795;ExcessHet=0.0000;FS=1.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=-8.650e-01;SOR=0.486	GT:AD:DP:GQ:PL	0/1:48,57:105:99:1489,0,1342	20	0	1	0
chr17	34627033	34627033	C	G	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon2:c.C974G:p.P325R,	.	.	419	1102	1	0	0	1	0.000453515	.	.	1630613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.51	T	0.358	B	0.277	B	0.000	D	0.999	D	1.245	L	2.34	T	-1.094	T	0.034	T	0.107	4.065	20.9	5.35	2.484	3.417	18.052	0.109	.	0.0038	0.00139776	0.0011	0.0128	0.0005	0	0	1.537e-05	0	0	0.0010349	160	154602	rs112576629	0.0004	0.0004	0.0005	0.0004	0.0130	0.0004	0.0004	0.0120	0.0116	0.0130	0.0005	0	0	0	0.0009	5.396e-06	0.0020	1.159e-05	0.0035	0.0035	0.0036	0.0035	0.0126	0.0033	0.0032	0.0117	0.0113	0.0126	0	0.0006	0	0	0	0	2.941e-05	0.0028	0	0.003	0.68238	D	0.005	0.72224	D	0.358	0.33818	B	0.277	0.40197	B	0.000060	0.53742	D	0.000000	0.999299	0.46578	D	1.04	0.26193	L	2.34	0.16351	T	-1.48	0.36189	N	0.563	0.58713	-1.0943	0.04854	T	0.034	0.14596	T	10	0.007158965	0.00163	T	.	.	.	0.109	0.30843	.	.	0.0551355673512	0.04727	0.31254990450751574	0.31167	0.642950238852	0.57852	0.55015540123	0.45880	T	0.006614	0.19424	T	-0.588948	0.00170	T	-0.607728	0.12170	T	0.0233846625596626	0.01069	T	0.741226	0.36032	T	0.263829	0.49448	0.32274017	0.58211	0.23697758	0.46554	0.3480817	0.60452	.	.	.	.	.	0.111	0.21691	B	.;.	.;.	3.657678	0.51945	23.2	0.99801925666094471	0.88639	0.96277	0.68356	D	AEFDBHCI	0.512540	0.54071	D	0.0382103714501736	0.43602	2.649854	0.173922877070707	0.48424	3.058418	0.999999999244974	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	3.495000	0.53043	4.803000	0.44983	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.052	0.89276	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	943.98	44	chr17	34627033	.	C	G	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e+00;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=2.06;SOR=0.737	GT:AD:DP:GQ:PL	0/1:42,43:85:99:958,0,1097	20	0	1	0
chr17	35259519	35259519	G	A	exonic	SLFN5	.	nonsynonymous SNV	SLFN5:NM_001330183:exon2:c.G829A:p.V277I	.	.	426	1094	2	0	0	2	0.000913242	.	.	704089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.022	B	0.008	N	1.000	N	0.205	N	1.56	T	-1.039	T	0.010	T	0.055	1.090	9.448	-6.7	-1.487	-1.236	7.129	0.019	.	0.0079	0.0081869	0.0024	0.0262	0.0014	0	0	5.993e-05	0.0011	6.058e-05	0.0023027	356	154602	rs114439106	0.0008	0.0008	0.0009	0.0007	0.0274	0.0008	0.0008	0.0259	0.0253	0.0274	0.0019	0	0	0	0.0003	7.104e-05	0.0017	0.0001	0.0075	0.0075	0.0074	0.0076	0.0259	0.0071	0.0070	0.0247	0.0241	0.0259	0	0.0036	0	0	0	0	4.41e-05	0.0033	0.0002	0.094	0.31383	T	0.156	0.31833	T	0.009	0.17332	B	0.006	0.19653	B	0.007768	0.01180	N	3.538540	1	0.08975	N	-0.345	0.03330	N	1.56	0.29602	T	-0.73	0.20576	N	0.118	0.10769	-1.0390	0.17617	T	0.010	0.03856	T	10	0.002502352	0.00038	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.12037043642033196	0.11964	0.0810453358943	0.09121	0.281307518482	0.07675	T	0.003357	0.02758	T	-0.714095	0.00030	T	-0.778252	0.02507	T	0.00144583714795579	0.00014	T	0.531747	0.20211	T	0.032261636	0.03219	0.03000826	0.01405	0.032261636	0.03218	0.03000826	0.01405	-4.062	0.26838	T	.	.	0.086	0.13221	B	.;.;.	.;.;.	-0.705339	0.01309	0.071	0.74357411122109995	0.10666	0.03630	0.08873	N	AEFBCI	0.019616	0.00698	N	-1.51282067017163	0.01765	0.07730379	-1.62306171199771	0.01521	0.06887464	0.79399098283258	0.24065	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.68	-6.7	0.01602	-1.893000	0.01700	-4.922000	0.01925	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6519:0.0:0.2143:0.1337	7.129	0.24668	887	0.27948	Schlafen, AAA domain;Schlafen, AAA 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	1669.98	33	chr17	35259519	.	G	A	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.866e+00;DP=865;ExcessHet=0.0000;FS=1.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-2.690e-01;SOR=0.757	GT:AD:DP:GQ:PL	0/1:95,70:165:99:1684,0,2560	20	0	1	0
chr17	35671790	35671790	A	G	exonic	AP2B1	.	nonsynonymous SNV	AP2B1:NM_001282:exon15:c.A2026G:p.T676A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.759	P	0.306	B	0.000	D	1.000	D	-0.145	N	1.6	T	-1.055	T	0.042	T	0.634	1.743	11.79	5.29	2.000	5.778	14.413	0.178	0.00209535651422	.	.	3.295e-05	0	0.0002	0	0	1.498e-05	0	6.056e-05	2.59e-05	4	154602	rs746621449	2.873e-05	2.873e-05	2.45e-05	3.3e-05	6.708e-05	2.152e-05	1.908e-05	2.455e-05	2.143e-05	2.987e-05	6.708e-05	0	0	0	0	3.328e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.846	0.03548	T	0.0	0.07471	B	0.0	0.08700	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.505	0.13445	N	.	.	.	.	.	.	0.237	0.31590	-1.0547	0.13119	T	0.042	0.18035	T	10	0.15001169	0.28381	T	0.002095	0.03855	T	.	.	0.311	0.28451	0.753949860246	0.75172	0.4905236829706259	0.48972	.	.	0.676627635956	0.63785	T	0.295758	0.66841	T	-0.0423397	0.45600	T	-0.101623	0.63273	T	0.2297443151474	0.21939	T	0.743726	0.36507	T	0.09618816	0.22651	0.115226865	0.27814	0.09618816	0.22651	0.115226865	0.27813	-3.402	0.15083	T	.	.	0.060	0.01109	B	.;.;.;.	.;.;.;.	2.963037	0.39466	21.0	0.97173684619982859	0.32687	0.98302	0.81423	D	AEFBI	0.779066	0.71138	D	-0.257205066431301	0.30817	1.721906	-0.0155677911957697	0.39012	2.306702	0.999073281735736	0.38370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	5.766000	0.68494	6.781000	0.56583	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.413	0.66698	343	0.85802	.;.;.;.	.	.	.	.	.	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	2162.98	33	chr17	35671790	.	A	G	2162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=991;ExcessHet=0.0000;FS=2.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=3.06;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,80:155:99:0|1:35671783_G_C:2177,0,2094:35671783	20	0	1	0
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	0/1:47,50:97:99:515,0,715	0	0	21	0
chr17	38183566	38183566	T	C	exonic	TBC1D3;TBC1D3C;TBC1D3E;TBC1D3K	.	nonsynonymous SNV	TBC1D3C:NM_001001418:exon13:c.A1039G:p.M347V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440423901	0.0006	0.0005	0.0007	0.0005	0.0097	0.0005	0.0005	0.0085	0.0080	0.0097	0.0014	0	0	0	0.0024	0	0.0012	2.531e-05	0.0039	0.0041	0.0044	0.0034	0.0058	0.0033	0.0030	0.0047	0.0044	0.0058	0	0.0048	0	0	0	0	0.0002	0.0079	0	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.29889	.	.	.	.	.	.	.	0.034586012	0.01672	T	.	.	.	.	.	.	.	.	.	0.0894272524861055	0.08875	.	.	.	.	.	0.043011	0.26367	T	.	.	.	.	.	.	.	.	.	0.50395	0.15873	T	.	.	.	.	.	.	.	.	-8.125	0.61919	D	.	.	0.085	0.10400	B	.	.	0.052070	0.04652	1.307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549000	0.23037	-3.045000	0.03111	-0.900000	0.02330	0.080000	0.22340	0.000000	0.08366	0.004000	0.06068	.	.	.	250	0.90192	.	.	.	.	.	.	Uncertain significance	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	0.05882	32.59	3	chr17	38183566	.	T	C	32.59	.	AC=2;AF=0.059;AN=34;DP=53;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3245;MLEAC=1;MLEAF=0.029;MQ=20.00;QD=16.29;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	16	1	0	4
chr17	38327075	38327075	G	T	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.C6494A:p.T2165K,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1126173	not_provided|Congenital_stationary_night_blindness_1E	MedGen:C3661900|MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.141	B	0.018	B	0.540	N	1.000	N	1.445	L	0.76	T	-1.024	T	0.091	T	0.131	1.463	10.84	1.6	0.205	0.775	6.826	0.009	0.00829742864425	0.0011	0.00139776	0.0005	0.0057	0.0002	0	0	1.498e-05	0	0.0001	0.0004786	74	154602	rs114844749	0.0001	0.0001	0.0002	0.0001	0.0047	0.0001	0.0001	0.0041	0.0039	0.0047	0.0002	0	0	0	0	1.529e-05	0.0004	2.319e-05	0.0014	0.0014	0.0013	0.0015	0.0048	0.0012	0.0012	0.0043	0.0041	0.0048	0	0.0005	0	0	0	0	1.47e-05	0.0009	0	.	.	.	0.823	0.03795	T	.	.	.	.	.	.	0.539728	0.11549	N	0.706661	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.218	0.24385	-1.0243	0.22311	T	0.091	0.34874	T	10	0.0043193996	0.00087	T	0.008297	0.21979	T	.	.	.	.	0.0482279557977	0.04254	0.1823857149423959	0.18157	.	.	0.224673479795	0.01597	T	.	.	.	-0.568622	0.00226	T	-0.588884	0.13762	T	0.0206646587936708	0.00766	T	0.387561	0.09552	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24192	B	.;.	.;.	0.160887	0.05513	1.977	0.76448355518692002	0.11472	0.26365	0.22972	N	AEFGBCI	0.140991	0.26305	N	-1.05413881454229	0.07507	0.3489311	-1.09363206914681	0.07824	0.3821771	0.999942332320636	0.47345	0.559995	0.30671	0	0.624146	0.53433	0	0.536957	0.11973	0	0.631631	0.49550	0	.	.	4.75	1.6	0.22686	0.467000	0.21747	0.645000	0.20357	-0.807000	0.03101	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1582:0.0:0.7:0.1418	6.826	0.23068	121	0.95159	.;.	.	.	.	.	.	Likely benign	0	0	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	5826.98	34	chr17	38327075	.	G	T	5826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.25;DP=1173;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-3.870e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/1:248,211:459:99:5841,0,6365	20	0	1	0
chr17	38330051	38330051	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G3518C:p.S1173T,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	338202	not_provided|Congenital_stationary_night_blindness_1E|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.506	P	0.074	B	0.001	N	1.000	N	0.975	L	0.42	T	-0.910	T	0.104	T	0.161	1.600	11.31	5.27	2.733	0.870	12.011	0.116	0.00983965543425	.	0.000798722	0.0003	0	0	0	0	0	0	0.0025	0.0002975	46	154602	rs565610587	0.0001	0.0001	5.853e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	0	0.0002	0.0021	0.0001	0.0001	6.422e-05	0.0002	0.0037	7.569e-05	6.275e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	.	.	.	0.017	0.60337	D	.	.	.	.	.	.	0.001060	0.40475	N	0.178133	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.127	0.12055	-0.9099	0.46867	T	0.104	0.38169	T	10	0.004954815	0.00106	T	0.00984	0.25653	T	.	.	0.196	0.10839	0.306695030598	0.30287	0.09363119126085746	0.09295	.	.	0.318886816502	0.13253	T	.	.	.	-0.496143	0.00601	T	-0.490999	0.23286	T	0.0434551604656094	0.04320	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17103	B	.;.	.;.	2.072972	0.26359	17.09	0.98531890623032181	0.42607	0.16072	0.19217	N	AEFGBI	.	.	.	-0.23634567432978	0.31651	1.776975	-0.189037010113283	0.31938	1.812212	0.999313567037455	0.39113	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	0.063000	0.14285	1.406000	0.26239	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.950000	0.49671	0.0:0.8263:0.1737:0.0	12.011	0.52579	125	0.94984	.;.	.	.	.	.	.	Uncertain significance	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	8253.98	35	chr17	38330051	.	C	G	8253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.359e+00;DP=2152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.106;SOR=0.694	GT:AD:DP:GQ:PL	0/1:335,331:666:99:8268,0,8527	20	0	1	0
chr17	38722125	38722125	A	G	exonic	MLLT6	.	nonsynonymous SNV	MLLT6:NM_005937:exon17:c.A2690G:p.N897S,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.993	D	0.956	D	0.000	D	1.000	D	1.5	L	2.26	T	-1.102	T	0.084	T	0.149	3.153	16.55	4.48	1.882	7.031	12.742	0.115	0.0141532350116	.	0.00199681	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs185161404	0.0003	0.0003	0.0004	0.0003	0.0144	0.0003	0.0003	0.0132	0.0127	0.0144	0.0008	0	0	0	0	2.293e-05	0.0008	8.847e-05	0.0040	0.0040	0.0039	0.0040	0.0140	0.0037	0.0036	0.0130	0.0126	0.0140	0	0.0010	0	0	0	0	7.37e-05	0.0019	0	.	.	.	0.392	0.15406	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.999613	0.47849	D	1.38	0.34346	L	.	.	.	.	.	.	0.526	0.55540	-1.1021	0.03846	T	0.084	0.32729	T	10	0.010007888	0.00224	T	0.014153	0.34071	T	.	.	.	.	0.359705090764	0.35578	0.46554291628590905	0.46473	.	.	0.797406852245	0.81569	T	0.175026	0.52446	T	-0.433749	0.01408	T	-0.385439	0.35085	T	0.0478618358433374	0.05119	T	0.836416	0.50788	T	0.31094652	0.53868	0.20617108	0.44820	0.31094652	0.53868	0.20617108	0.44819	-2.896	0.09103	T	.	.	0.094	0.14385	B	.	.	4.012986	0.59210	24.1	0.99629843588999689	0.75959	0.96857	0.71316	D	AEFBCI	0.695418	0.65409	D	0.598752578802338	0.73095	5.910712	0.576702042687613	0.73272	5.943663	0.991854231064421	0.32632	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.48	4.48	0.53973	5.551000	0.66980	11.109000	0.86285	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	12.742	0.56635	580	0.69689	.	.	.	.	.	.	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	233.98	12	chr17	38722125	.	A	G	233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.579e+00;DP=425;ExcessHet=0.0000;FS=3.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=0.931;SOR=0.248	GT:AD:DP:GQ:PL	0/1:14,11:25:99:248,0,398	20	0	1	0
chr17	39526140	39526140	C	T	exonic	CDK12	.	nonsynonymous SNV	CDK12:NM_015083:exon13:c.C3584T:p.T1195M	.	.	425	1094	3	0	0	3	0.00136924	.	.	137598	not_specified|Hereditary_breast_ovarian_cancer_syndrome|CDK12-related_disorder	MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.004	B	0.004	B	0.032	N	0.950	N	1.245	L	-0.4	T	-0.951	T	0.076	T	0.182	2.521	14.39	3.32	0.730	1.083	8.900	0.080	.	0.0111	0.00599042	0.0027	0.0304	0.0007	0	0	4.503e-05	0.0033	0.0002	0.0025032	387	154602	rs61741615	0.0009	0.0009	0.0010	0.0008	0.0321	0.0009	0.0009	0.0305	0.0299	0.0321	0.0017	0	0	0	0.0017	1.169e-05	0.0021	0.0003	0.0093	0.0093	0.0092	0.0094	0.0321	0.0089	0.0087	0.0306	0.0300	0.0321	0	0.0034	0	0	0	0.0034	0.0001	0.0080	0.0008	0.011	0.55530	D	0.039	0.51112	D	0.004	0.12183	B	0.004	0.10090	B	0.031503	0.25158	N	0.288672	0.95026	0.26510	N	1.59	0.40313	L	-0.45	0.69896	T	-1.09	0.30762	N	0.135	0.13911	-0.9507	0.40851	T	0.076	0.30460	T	10	0.002410978	0.00036	T	.	.	.	0.080	0.23350	.	.	0.41089407703	0.40707	0.23901028071069444	0.23815	0.505556540671	0.48791	0.40447562933	0.25691	T	0.021684	0.34908	T	-0.442727	0.01246	T	-0.385038	0.35133	T	0.0172431242562048	0.00466	T	0.907009	0.68770	D	0.024258202	0.01240	0.049285147	0.07500	0.024150215	0.01218	0.05228501	0.08581	-5.947	0.45833	T	.	.	0.078	0.08320	B	.;.;.	.;.;.	3.010795	0.40265	21.1	0.99075266276139695	0.51834	0.90608	0.51925	D	AEFDGBI	0.201398	0.32806	N	-0.268577963293855	0.30369	1.692684	-0.134033094447453	0.34028	1.952874	0.0372130687170748	0.14285	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	3.32	0.37134	0.790000	0.26562	2.471000	0.32897	0.599000	0.40250	0.320000	0.25502	0.986000	0.30841	0.998000	0.85391	0.2644:0.6641:0.0:0.0714	8.900	0.34652	311	0.87433	.;.;.	.	.	.	.	.	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	3836.11	36	chr17	39526140	.	C	T	3836.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.09;DP=953;ExcessHet=0.1072;FS=3.979;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-1.086e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/1:68,73:141:99:1789,0,1777	19	0	2	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,19,0:274:30:0|1:41041286_G_T:30,0,10369,798,10413,11204:41041286	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:258,0,19:277:21:0|1:41041286_G_T:21,798,11361,0,10611,10704:41041286	10	0	1	1
chr17	41065513	41065513	G	0	exonic	KRTAP2-4	.	.	.	.	.	421	1053	32	2	14	50	0.0168067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	899.24	34	chr17	41065513	.	G	A,*	899.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=2.70;DP=910;ExcessHet=0.6776;FS=0.479;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.55;MQRankSum=-4.000e-01;QD=3.41;ReadPosRankSum=0.826;SOR=0.639	GT:AD:DP:GQ:PL	0/1:48,35,0:83:99:913,0,1169,1057,1273,2331	17	0	1	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/2:0,24,30:54:99:2736,951,804,946,0,1363	6	11	3	0
chr17	41302304	41302304	G	T	exonic	KRTAP29-1	.	nonsynonymous SNV	KRTAP29-1:NM_001257309:exon1:c.C548A:p.P183Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	.	.	.	.	4.49	T	-1.013	T	0.011	T	0.385	-0.149	3.273	4.17	1.161	2.341	8.091	0.169	0.00362404036815	.	.	0.0002	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs749474229	3.719e-05	3.762e-05	2.822e-05	4.64e-05	0.0005	2.888e-05	2.615e-05	0.0004	0.0004	0	0	0	0	0	0	2.78e-06	0.0001	0.0005	1.972e-05	1.97e-05	0	4.036e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	4.49	0.02049	T	-4.86	0.81187	D	0.481	0.51583	-1.0134	0.25848	T	0.011	0.04134	T	5	0.3967472	0.55281	T	0.003624	0.08309	T	0.169	0.43123	0.723	0.85761	0.0762999501168	0.06990	0.0837841442126966	0.08312	.	.	0.263383388519	0.05299	T	0.01894	0.15180	T	-0.380678	0.03086	T	-0.475726	0.24901	T	0.198290851436373	0.20322	T	.	.	.	0.2118084	0.43516	0.2873454	0.54746	0.2118084	0.43516	0.2873454	0.54745	-4.998	0.36819	T	.	.	0.143	0.31532	B	.	.	2.362890	0.30306	18.40	0.59022052312569184	0.06127	0.63681	0.32165	D	AEFDGBIJ	0.102891	0.20629	N	-0.128809205189809	0.36141	2.085092	-0.172492102357155	0.32552	1.853159	0.999854100083052	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.15	4.17	0.48303	2.558000	0.45541	5.626000	0.49100	0.676000	0.76740	0.908000	0.31627	0.991000	0.31484	0.052000	0.15357	0.1845:0.0:0.8155:0.0	8.091	0.29964	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3637.98	33	chr17	41302304	.	G	T	3637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.915e+00;DP=1737;ExcessHet=0.0000;FS=4.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.84;SOR=0.572	GT:AD:DP:GQ:PL	0/1:137,145:282:99:3652,0,3510	20	0	1	0
chr17	42104866	42104866	C	T	exonic	DHX58	.	nonsynonymous SNV	DHX58:NM_024119:exon11:c.G1463A:p.R488Q,	.	.	.	.	.	.	.	.	.	.	.	2761458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.994	D	0.657	P	0.122	N	0.626	N	1.46	L	3.52	T	-1.080	T	0.023	T	0.125	2.827	15.42	3.67	1.403	0.881	9.157	0.050	0.0126766181734	.	.	4.954e-05	0	0.0002	0	0	3.007e-05	0	0.0001	4.53e-05	7	154602	rs367778648	3.078e-05	3.078e-05	2.314e-05	3.85e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0003	2.987e-05	4.472e-05	3.826e-05	0	0	0	6.295e-06	0	0.0004	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.235	0.18000	T	0.322	0.19016	T	0.99	0.63424	D	0.406	0.44683	B	0.122292	0.18961	N	0.465346	0.626093	0.30739	N	1.735	0.44892	L	3.52	0.04905	T	-1.32	0.32991	N	0.31	0.34981	-1.0802	0.07310	T	0.023	0.09696	T	10	0.16795883	0.31320	T	0.012677	0.31464	T	0.050	0.13987	0.374	0.38667	0.564986160551	0.56162	0.4706266313683839	0.46981	0.318609977021	0.34082	0.325648933649	0.14276	T	0.11231	0.42848	T	-0.453242	0.01080	T	-0.652159	0.08803	T	0.331295877695084	0.26277	T	0.790821	0.43180	T	0.03337367	0.03544	0.06500569	0.13112	0.03337367	0.03543	0.06500569	0.13112	-7.59	0.58241	D	.	.	0.085	0.09965	B	.	.	2.779528	0.36511	20.3	0.99885367454004692	0.96049	0.43894	0.27199	N	AEFBI	0.126663	0.24370	N	-0.13049311100179	0.36068	2.07997	-0.176098309925577	0.32418	1.844126	0.976572277450849	0.29738	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.68	3.67	0.41236	1.236000	0.32286	0.433000	0.18345	-0.810000	0.03076	0.316000	0.25468	0.538000	0.25400	0.082000	0.17360	0.0:0.7755:0.0:0.2245	9.157	0.36162	323	0.86843	Helicase, 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	1976.98	34	chr17	42104866	.	C	T	1976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=821;ExcessHet=0.0000;FS=1.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=-1.545e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1991,0,1676	20	0	1	0
chr17	44401155	44401155	C	T	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.G688A:p.A230T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.012	B	0.012	B	0.000	D	1.000	D	1.1	L	2.18	T	-1.082	T	0.027	T	0.189	2.465	14.20	4.67	2.654	3.948	9.822	0.028	0.00489794684121	0.0026	0.00159744	0.0007	0.0074	0	0	0	7.492e-05	0	0	0.0006339	98	154602	rs150608601	0.0002	0.0002	0.0003	0.0002	0.0082	0.0002	0.0002	0.0074	0.0071	0.0082	0.0004	0	0	0	0.0003	1.709e-05	0.0005	0	0.0022	0.0023	0.0023	0.0022	0.0077	0.0021	0.0020	0.0070	0.0067	0.0077	0	0.0009	0	0	0	0	4.411e-05	0.0033	0	.	.	.	0.082	0.41573	T	0.012	0.16265	B	0.012	0.16012	B	0.000013	0.62929	D	0.113820	0.980719	0.39696	D	1.545	0.39105	L	2.19	0.18724	T	.	.	.	0.138	0.13626	-1.0819	0.06984	T	0.027	0.11529	T	10	0.0056661367	0.00126	T	0.004898	0.12318	T	.	.	.	.	0.043077524339	0.03247	0.2662746842694272	0.26540	0.315036589402	0.33781	0.651984333992	0.60267	T	0.067955	0.33333	T	-0.541823	0.00327	T	-0.547342	0.17582	T	0.0289849726984402	0.01834	T	0.855914	0.54393	D	0.08532932	0.19789	0.09984055	0.23852	0.08532932	0.19789	0.09984055	0.23851	-5.652	0.43264	T	.	.	0.104	0.18910	B	.	.	2.618472	0.34026	19.51	0.9915436644178065	0.53903	0.92337	0.55479	D	AEFBI	0.213060	0.33868	N	-0.0579517787763278	0.39248	2.311433	0.141625974134826	0.46701	2.911785	0.348950636886998	0.19662	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.67	0.58089	4.013000	0.56850	3.326000	0.37586	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7931:0.0:0.2069	9.822	0.40060	511	0.75131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1981.98	35	chr17	44401155	.	C	T	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.437e+00;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-8.100e-02;SOR=0.715	GT:AD:DP:GQ:PL	0/1:80,81:161:99:1996,0,2053	20	0	1	0
chr17	45237626	45237626	A	G	exonic	FMNL1	.	nonsynonymous SNV	FMNL1:NM_005892:exon9:c.A881G:p.D294G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.996	D	0.914	D	0.000	D	1.000	D	2.22	M	-2.34	D	0.178	D	0.683	D	0.712	3.067	16.24	2.84	0.843	9.139	9.270	0.718	0.208090546915	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs755368952	1.368e-05	1.368e-05	1.361e-05	1.375e-05	1.799e-05	8.94e-06	7.26e-06	1.174e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.024	0.56640	D	0.996	0.68779	D	0.914	0.64984	D	0.000081	0.51296	D	0.166361	1	0.81001	D	.	.	.	-2.34	0.87989	D	-5.59	0.86527	D	0.822	0.81758	0.178	0.85541	D	0.683	0.89058	D	10	0.90214694	0.89577	D	0.208091	0.87128	D	0.718	0.90011	0.692	0.82938	0.870481337764	0.86921	0.7939759188123706	0.79350	0.762324441734	0.64334	0.815022706985	0.84263	D	0.732762	0.92534	D	0.280173	0.81330	D	0.180158	0.82004	D	0.968489766120911	0.68260	D	0.981102	0.93484	D	0.876808	0.89406	0.81519085	0.89231	0.876808	0.89408	0.81519085	0.89231	-11.716	0.83441	D	.	.	0.682	0.72226	P	.	.	4.576284	0.72255	25.8	0.99421510037698713	0.63790	0.99171	0.92276	D	AEFGBI	0.898717	0.84230	D	0.492919177054094	0.66674	4.980904	0.425064117461529	0.63131	4.540841	0.999915730376051	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.93	2.84	0.32241	9.308000	0.95301	11.207000	0.89260	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9117:0.0:0.0882:0.0	9.270	0.36826	440	0.80101	Formin, FH3 domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, FH3 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	2814.98	39	chr17	45237626	.	A	G	2814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.415;DP=983;ExcessHet=0.0000;FS=4.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-6.410e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:130,115:245:99:2829,0,3359	20	0	1	0
chr17	46171537	46171537	C	G	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.G607C:p.G203R	Koolen-De Vries syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346284	not_specified|not_provided|Koolen-de_Vries_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.372	B	0.299	B	0.008	N	1.000	D	0	N	2.79	T	-0.876	T	0.013	T	0.445	1.925	12.39	6.04	2.873	0.244	11.457	0.117	0.0148833137326	0.0018	0.00139776	0.0005	0.0059	0	0.0001	0	1.509e-05	0	0	0.0005045	78	154602	rs138175526	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	7.685e-05	2.519e-05	0	0.0007	2.43e-05	0.0004	9.293e-05	0.0017	0.0017	0.0019	0.0014	0.0058	0.0015	0.0014	0.0052	0.0050	0.0058	0	0.0005	0	0	0	0.0034	0	0.0009	0	0.029	0.45756	D	0.478	0.13030	T	.	.	.	.	.	.	0.007549	0.31331	N	0.331675	1	0.81001	D	.	.	.	2.79	0.11189	T	-0.95	0.25332	N	0.215	0.30118	-0.8764	0.50044	T	0.013	0.05129	T	10	0.0055753887	0.00123	T	0.014883	0.35280	T	0.117	0.32689	0.105	0.01753	0.082315109003	0.07666	0.16473883660042404	0.16393	0.0208422409897	0.02056	0.450694382191	0.32039	T	.	.	.	-0.490827	0.00643	T	-0.476035	0.24869	T	0.0263946811296605	0.01459	T	0.849215	0.53152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.36594	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.143830	0.42536	21.6	0.99456414297166684	0.65581	0.87485	0.47040	D	AEFBCI	0.298517	0.40781	N	-0.171884017562714	0.34307	1.956709	0.0603000088784198	0.42571	2.577306	0.999999885288528	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	0.310000	0.19112	3.332000	0.37635	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.999000	0.91618	0.0:0.9187:0.0:0.0813	11.457	0.49434	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	3174.98	34	chr17	46171537	.	C	G	3174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.875;DP=1804;ExcessHet=0.0000;FS=3.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=1.89;SOR=0.775	GT:AD:DP:GQ:PL	0/1:89,122:211:99:3189,0,2166	20	0	1	0
chr17	46297285	46297285	G	A	exonic	LRRC37A	.	nonsynonymous SNV	LRRC37A:NM_014834:exon1:c.G2152A:p.V718I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.008	B	0.006	B	.	.	1.000	N	1.59	L	0.14	T	-0.995	T	0.119	T	0.037	-0.076	3.631	-3.64	-1.403	-0.773	1.088	0.041	0.00483260882106	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286064870	0.0012	0.0010	0.0013	0.0011	0.0267	0.0011	0.0010	0.0243	0.0234	0.0267	0.0033	0	0.0008	0	0	5.933e-05	0.0029	0.0007	0.0061	0.0077	0.0059	0.0064	0.0223	0.0056	0.0054	0.0204	0.0197	0.0223	0	0.0029	0	0	0	0	5.612e-05	0.0011	0.0007	0.154	0.24277	T	0.322	0.19016	T	0.008	0.14655	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.425	0.70256	M	0.11	0.61208	T	-0.47	0.15178	N	0.042	0.02088	-0.9950	0.31299	T	0.119	0.41648	T	9	0.0030721128	0.00051	T	0.004833	0.12098	T	0.041	0.10877	.	.	0.043077524339	0.03247	0.039897716467785845	0.03935	.	.	0.720985114574	0.70190	T	0.011713	0.10413	T	-0.268068	0.11972	T	-0.622838	0.10963	T	0.0172612044604597	0.00468	T	0.0819918	0.00611	T	0.027022619	0.01836	0.025842313	0.00645	0.027022619	0.01835	0.025842313	0.00645	-6.38	0.49353	T	.	.	0.091	0.13127	B	.;.	.;.	-0.104907	0.03612	0.711	0.62382280820097757	0.06948	0.00321	0.01686	N	AEFI	0.027564	0.02277	N	-1.56195723588409	0.01466	0.06397825	-1.71543671470661	0.01071	0.04807242	1.24660615070131E-4	0.05386	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.82	-3.64	0.04225	-0.364000	0.07635	-20.000000	0.00162	-1.296000	0.01249	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1384:0.177:0.3284:0.3562	1.088	0.01553	0	0.99858	Leucine-rich repeat-containing protein 37, N-terminal;Leucine-rich repeat-containing protein 37, 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	301.33	33	chr17	46297285	.	G	A	301.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.82;DP=691;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=26.35;MQRankSum=-1.304e+00;QD=5.29;ReadPosRankSum=-9.000e-03;SOR=0.588	GT:AD:DP:GQ:PL	0/1:40,17:57:99:315,0,999	19	0	1	1
chr17	50358288	50358288	G	A	exonic	XYLT2	.	nonsynonymous SNV	XYLT2:NM_022167:exon10:c.G2023A:p.V675M,	Spondyloocular syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	715552	XYLT2-related_disorder|Osteogenesis_imperfecta|not_provided	.|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.007	B	0.014	B	0.000	N	1.000	D	0.62	N	0.83	T	-1.051	T	0.032	T	0.052	-0.210	2.981	2.27	0.308	1.133	7.395	0.049	.	0.0051	0.00479233	0.0013	0.0146	8.732e-05	0.0007	0	9.201e-05	0	6.087e-05	0.0013066	202	154602	rs147831067	0.0005	0.0005	0.0005	0.0004	0.0151	0.0004	0.0004	0.0140	0.0135	0.0151	0.0005	0	0.0004	0	0.0012	6.655e-05	0.0009	0.0001	0.0045	0.0045	0.0046	0.0044	0.0155	0.0042	0.0041	0.0145	0.0141	0.0155	0	0.0012	0	0.0006	0	0	8.821e-05	0.0038	0.0002	1.0	0.00964	T	0.926	0.02814	T	0.007	0.14184	B	0.014	0.16862	B	0.000089	0.51296	N	0.206925	1	0.81001	D	-0.535	0.02521	N	0.83	0.47815	T	0.67	0.02263	N	0.197	0.21710	-1.0507	0.14203	T	0.032	0.13635	T	10	0.005012095	0.00108	T	.	.	.	0.049	0.13647	.	.	0.199424873507	0.19547	0.4061435972415296	0.40530	0.423955509883	0.42838	0.2950938344	0.09671	T	0.028395	0.20579	T	-0.641795	0.00081	T	-0.682994	0.06802	T	0.000981276237548153	0.00009	T	0.816918	0.47330	T	0.020171253	0.00566	0.045740817	0.06221	0.023517476	0.01097	0.041989006	0.04897	-5.073	0.37622	T	0.09075109009691164	0.05685	0.062	0.01215	B	.	.	1.093221	0.14769	11.31	0.40153356483912861	0.02816	0.13834	0.18077	N	AEFDBI	0.017179	0.00433	N	-0.889737040680057	0.11085	0.5331038	-0.731285396824299	0.16183	0.8548866	0.577079060768058	0.21540	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	2.27	0.27501	0.958000	0.28825	2.240000	0.31603	-0.102000	0.15922	0.315000	0.25459	0.935000	0.28640	0.992000	0.67800	0.7528:0.0:0.2472:0.0	7.395	0.26105	920	0.19381	.	.	.	.	.	.	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	2234.98	34	chr17	50358288	.	G	A	2234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.56;DP=865;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=1.06;SOR=0.880	GT:AD:DP:GQ:PL	0/1:91,80:171:99:2249,0,2240	20	0	1	0
chr17	50378822	50378822	G	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon5:c.G1039A:p.V347I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.988	D	0.000	D	1.000	D	1.905	M	1.87	T	-1.070	T	0.072	T	0.151	4.203	21.8	3.6	0.837	4.408	12.040	0.078	.	0.0048	0.00479233	0.0012	0.0135	8.639e-05	0	0	1.498e-05	0	0	0.0011902	184	154602	rs7222520	0.0004	0.0004	0.0005	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0005	0	0	0	0.0010	1.799e-06	0.0009	8.115e-05	0.0043	0.0043	0.0044	0.0043	0.0151	0.0040	0.0039	0.0141	0.0138	0.0151	0	0.0012	0	0	0	0	2.94e-05	0.0038	0.0002	0.116	0.28395	T	0.119	0.36101	T	0.999	0.77913	D	0.988	0.77976	D	0.000001	0.62929	D	0.000000	0.99961	0.47849	D	2.825	0.82220	M	1.87	0.24085	T	-0.46	0.14978	N	0.133	0.15469	-1.0696	0.09501	T	0.072	0.29098	T	10	0.0057918727	0.00129	T	.	.	.	0.078	0.22779	.	.	0.568072681961	0.56471	0.40253235001904397	0.40169	0.244200854177	0.26925	0.415365874767	0.27198	T	0.011601	0.10324	T	-0.495086	0.00609	T	-0.472257	0.25274	T	0.0731945408623784	0.09092	T	0.680232	0.28883	T	0.102816425	0.24298	0.07683979	0.17059	0.102816425	0.24298	0.07683979	0.17059	-4.014	0.25305	T	.	.	0.085	0.14797	B	.;.;.	.;.;.	2.922112	0.38794	20.8	0.99767116093770813	0.85583	0.91921	0.54552	D	AEFDBCI	0.349463	0.44324	N	0.304767500702458	0.56394	3.803925	0.214432969869688	0.50647	3.254666	0.995709804411434	0.34277	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.636168	0.56350	0	.	.	5.58	3.6	0.40374	4.479000	0.59970	2.586000	0.33442	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.951000	0.49849	0.1392:0.0:0.8608:0.0	12.040	0.52744	932	0.16191	.;ERCC4 domain|ERCC4 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	2087.98	34	chr17	50378822	.	G	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.600e-01;DP=1488;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-1.322e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/1:78,79:157:99:2102,0,1993	20	0	1	0
chr17	57979244	57979258	TGCTGCTGCTGCTGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1046del:p.Q350_Q354del	.	.	.	.	.	.	.	.	.	.	.	2808061	VEZF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1173190330	0.0032	0.0032	0.0032	0.0031	0.0036	0.0031	0.0031	0.0035	0.0034	0.0009	0.0013	0.0033	0.0004	0.0011	0.0014	0.0036	0.0023	0.0032	0.0022	0.0022	0.0024	0.0020	0.0042	0.0020	0.0019	0.0028	0.0027	0.0010	0.0022	0.0008	0.0041	0.0008	0.0017	0.0034	0.0032	0.0014	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/2:50,0,51,0:103:99:1740,1960,4180,0,1917,1688,1960,4180,1917,4180	15	1	1	0
chr17	57979256	57979258	TGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1034del:p.Q354del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/2:50,0,51,0:103:99:1740,1960,4180,0,1917,1688,1960,4180,1917,4180	15	1	1	0
chr17	57979258	57979258	-	TGC	exonic	VEZF1	.	nonframeshift insertion	VEZF1:NM_007146:exon5:c.1031_1032insGCA:p.Q354_H355insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/2:50,0,51,0:103:99:1740,1960,4180,0,1917,1688,1960,4180,1917,4180	15	1	1	0
chr17	59962562	59962562	A	G	exonic	RNFT1	.	nonsynonymous SNV	RNFT1:NM_016125:exon3:c.T569C:p.I190T,	.	.	.	.	.	.	.	.	.	.	.	2763131	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.922	D	0.000	D	1.000	D	1.895	L	0.52	T	-0.613	T	0.270	T	0.682	3.331	17.21	4.47	0.922	6.213	11.556	0.284	0.0504637234522	.	.	7.486e-05	0	0	0.0010	0	0	0	0	6.47e-05	10	154602	rs112835092	2.751e-05	2.941e-05	3.283e-05	2.213e-05	0.0006	2.073e-05	1.826e-05	0.0004	0.0003	0	2.296e-05	0	0.0006	0	0	8.112e-06	4.996e-05	5.924e-05	5.257e-05	5.253e-05	6.424e-05	4.035e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.353e-05	2.413e-05	0	0	0	0.0006	0	0	4.41e-05	0	0.0002	0.003	0.68238	D	0.032	0.53426	D	0.999	0.77913	D	0.922	0.65739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	0.52	0.55266	T	-3.83	0.72120	D	0.74	0.74007	-0.6133	0.64267	T	0.270	0.64182	T	10	0.16187298	0.30352	T	0.050464	0.64253	D	0.284	0.60219	0.701	0.83777	0.593030115291	0.58981	0.6606223438945141	0.65999	0.713788616662	0.61839	0.756062328815	0.75343	T	0.120266	0.44239	T	-0.195644	0.21433	T	-0.104246	0.63066	T	0.171955138444901	0.18712	T	0.729427	0.34485	T	0.5657898	0.70829	0.37784922	0.62876	0.5657898	0.70830	0.37784922	0.62875	-4.427	0.29921	T	.	.	0.589	0.68404	P	.;.	.;.	4.168649	0.62659	24.5	0.99767937365712323	0.85666	0.96967	0.71926	D	AEFGBI	0.699016	0.65650	D	0.0617481603067616	0.44684	2.738047	0.150962697325471	0.47194	2.953243	0.999986647116389	0.51787	0.651	0.46895	0	0.633656	0.55848	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.54	4.47	0.53770	5.380000	0.65953	11.214000	0.89510	-0.094000	0.16080	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9299:0.0:0.0701:0.0	11.556	0.50001	254	0.90023	.;.	.	.	.	.	.	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	1149.98	35	chr17	59962562	.	A	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=795;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.48;MQRankSum=-2.476e+00;QD=11.27;ReadPosRankSum=0.188;SOR=0.780	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1164,0,1373	20	0	1	0
chr17	61591165	61591165	T	C	exonic	NACA2	.	nonsynonymous SNV	NACA2:NM_199290:exon1:c.A16G:p.T6A,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	B	0.098	B	0.000	U	0.888	N	1.87	L	0.93	T	-1.053	T	0.059	T	0.07	1.263	10.12	-0.473	-0.201	1.605	.	0.136	0.0074903302915	0.0028	0.00219649	0.0008	0.0087	0.0002	0	0	1.501e-05	0	0	0.0007374	114	154602	rs61748811	0.0003	0.0003	0.0003	0.0003	0.0106	0.0003	0.0003	0.0097	0.0094	0.0106	0.0005	0	0	0	0.0005	1.888e-05	0.0006	4.637e-05	0.0027	0.0027	0.0027	0.0026	0.0093	0.0025	0.0024	0.0086	0.0083	0.0093	0	0.0011	0	0	0	0	1.47e-05	0.0005	0	0.019	0.50132	D	0.378	0.16086	T	0.235	0.30743	B	0.098	0.30479	B	0.000018	0.62929	U	0.000000	0.888373	0.27926	N	2.44	0.70756	M	0.93	0.44065	T	-0.48	0.15379	N	0.146	0.14763	-1.0533	0.13493	T	0.059	0.24612	T	8	0.0053554773	0.00117	T	0.00749	0.19872	T	0.136	0.36778	.	.	0.471132149292	0.46741	0.04184693754089481	0.04129	0.0680759038335	0.07622	0.535104095936	0.43754	T	0.003768	0.03181	T	-0.593227	0.00160	T	-0.616944	0.11426	T	0.0227777546327082	0.00997	T	0.630337	0.24523	T	0.07244374	0.16115	0.06925009	0.14568	0.07244374	0.16115	0.06925009	0.14567	-3.005	0.10235	T	.	.	0.070	0.03372	B	.	.	1.106180	0.14907	11.43	0.79337095667808788	0.12696	0.44154	0.27256	N	AEFGBHCI	0.112106	0.22172	N	-0.650035106640307	0.17460	0.8985971	-0.755235236220685	0.15594	0.8209147	0.0358712213691518	0.14220	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	0.753	-0.473	0.11508	1.755000	0.38008	1.298000	0.25456	-0.388000	0.05360	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	.	.	.	374	0.84073	.	.	.	.	.	.	Likely benign	0	0	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	1866.98	35	chr17	61591165	.	T	C	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.690e+00;DP=905;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.830;SOR=0.626	GT:AD:DP:GQ:PL	0/1:93,84:177:99:1881,0,2442	20	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:34,17:59:47:47,0,441	8	0	11	2
chr17	62692371	62692371	C	T	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon30:c.C4360T:p.R1454C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.998	D	0.000	D	1.000	D	1.7	L	3.98	T	-1.175	T	0.040	T	0.774	4.382	23.2	3.19	0.571	5.484	7.786	0.172	0.113263796496	.	.	6.652e-05	0	0	0	0	6.905e-05	0	0.0001	1.29e-05	2	154602	rs758989291	1.478e-05	1.71e-05	1.393e-05	1.564e-05	0.0002	9.5e-06	8.06e-06	3.567e-05	2.161e-05	0	0.0001	0	2.637e-05	0	0.0002	1.008e-05	0	4.916e-05	6.57e-06	6.566e-06	1.284e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.063	0.45756	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000025	0.55875	D	0.115999	1	0.81001	D	1.83	0.48079	L	3.3	0.06368	T	-2.12	0.60665	N	0.612	0.62866	-1.1748	0.00452	T	0.040	0.17234	T	10	0.34058565	0.51124	T	0.113264	0.79171	D	0.172	0.43662	0.366	0.37361	0.274431252636	0.27063	.	.	1.41140609894	0.85459	0.713478088379	0.69096	T	0.158501	0.50154	T	-0.130982	0.31337	T	-0.200221	0.54626	T	0.302776988025153	0.25118	T	0.956104	0.83363	D	0.17030667	0.37598	0.11563971	0.27915	0.17030667	0.37598	0.11563971	0.27914	-5.798	0.44557	T	.	.	0.718	0.77707	P	.;.	.;.	5.483672	0.91405	32	0.99915771903199924	0.98379	0.93640	0.58773	D	AEFDBCI	0.651051	0.62494	D	0.47283735958974	0.65509	4.831538	0.422000036188911	0.62939	4.518022	0.976891907979437	0.29768	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.21	3.19	0.35720	5.584000	0.67185	4.842000	0.45294	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.2888:0.6368:0.0:0.0744	7.786	0.28255	552	0.72024	.;.	.	.	.	.	.	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	1027.98	38	chr17	62692371	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=846;ExcessHet=0.0000;FS=1.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.994;SOR=0.760	GT:AD:DP:GQ:PL	0/1:51,39:90:99:1042,0,1268	20	0	1	0
chr17	68984096	68984096	C	T	exonic	ABCA9	.	nonsynonymous SNV	ABCA9:NM_080283:exon35:c.G4459A:p.V1487M,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.995	D	0.916	D	0.001	N	1.000	D	1.005	L	-4.62	D	0.890	D	0.896	D	0.543	3.865	19.64	3.88	1.149	1.064	8.410	0.663	0.160241492565	7.7e-05	.	0.0002	0	8.639e-05	0.0001	0	1.499e-05	0.0011	0.0010	0.0001358	21	154602	rs372324484	6.977e-05	6.977e-05	4.084e-05	9.9e-05	0.0009	5.846e-05	5.457e-05	0.0007	0.0007	0	0	0	2.519e-05	0	0.0003	1.619e-05	4.967e-05	0.0009	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.007	0.69154	D	0.995	0.67487	D	0.916	0.65201	D	0.001120	0.40219	N	0.000000	0.990452	0.81001	D	1.005	0.25186	L	-4.62	0.97884	D	-1.8	0.42384	N	0.651	0.66187	0.890	0.95534	D	0.896	0.96542	D	10	0.5466648	0.64022	D	0.160241	0.84028	D	0.663	0.87430	.	.	0.933465771672	0.93277	0.2401202949436094	0.23926	0.339899624421	0.35937	0.577979385853	0.49802	T	0.151801	0.49191	T	-0.106909	0.35280	T	0.0232159	0.71838	D	0.274705678224564	0.23947	T	0.837116	0.68863	T	0.12398329	0.29101	0.21077189	0.45479	0.12398329	0.29100	0.21077189	0.45478	-8.359	0.63491	D	.	.	0.174	0.44201	B	.;.	.;.	2.854856	0.37700	20.6	0.99882762512363921	0.95892	0.73462	0.35934	D	AEFBI	0.317893	0.42176	N	0.198001230188767	0.51102	3.294264	0.14582322095459	0.46921	2.930355	0.065166603884202	0.15352	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.491896	0.07777	0	.	.	4.86	3.88	0.43959	0.439000	0.21293	-0.845000	0.07201	0.599000	0.40250	0.039000	0.20931	0.000000	0.08366	0.282000	0.24066	0.0:0.7607:0.1565:0.0828	8.410	0.31797	956	0.09877	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase 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	2262.98	33	chr17	68984096	.	C	T	2262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.276e+00;DP=858;ExcessHet=0.0000;FS=6.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=1.25;SOR=0.886	GT:AD:DP:GQ:PL	0/1:70,88:158:99:2277,0,1816	20	0	1	0
chr17	78972156	78972156	C	T	exonic	LGALS3BP	.	nonsynonymous SNV	LGALS3BP:NM_005567:exon6:c.G1178A:p.R393Q,	.	.	424	1091	7	0	0	7	0.00319781	.	.	756189	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.023	B	0.001	B	0.813	N	1.000	N	0.135	N	4.95	T	-0.906	T	0.002	T	0.037	0.619	7.332	-3.6	-0.737	-0.712	8.782	0.019	0.00383980923377	0.0022	0.00159744	0.0006	0.0058	8.646e-05	0	0.0002	0.0001	0	0	0.0005433	84	154602	rs143498463	0.0003	0.0003	0.0003	0.0002	0.0054	0.0002	0.0002	0.0048	0.0045	0.0054	0.0003	0	2.519e-05	9.377e-05	0	0.0001	0.0005	0	0.0018	0.0019	0.0017	0.0019	0.0060	0.0017	0.0016	0.0054	0.0052	0.0060	0	0.0010	0	0	0	0	0.0002	0.0005	0.0002	0.347	0.12428	T	0.999	0.02314	T	0.023	0.18885	B	0.001	0.04355	B	0.812843	0.06838	N	1.128570	1	0.18198	N	-0.2	0.04182	N	4.95	0.01376	T	-0.46	0.14978	N	0.033	0.00882	-0.9063	0.47297	T	0.002	0.00738	T	10	0.0058318675	0.00130	T	0.00384	0.08992	T	0.019	0.03383	.	.	0.149567049428	0.14543	0.07106137466376987	0.07043	0.170216262749	0.19188	0.190550804138	0.00235	T	0.154619	0.49599	T	-0.75239	0.00017	T	-0.852992	0.00922	T	0.00172858581446701	0.00018	T	0.682032	0.29067	T	0.015819771	0.00159	0.023056546	0.00322	0.015819771	0.00159	0.023056546	0.00321	-2.723	0.07498	T	.	.	0.142	0.31151	B	.	.	-0.953794	0.00840	0.029	0.9241972035313708	0.21837	0.00590	0.02647	N	AEFDBCI	0.108148	0.21524	N	-1.33238412095268	0.03311	0.1476776	-1.36602620096765	0.03621	0.1692559	0.999986675283119	0.51787	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.699875	0.68795	0	.	.	3.41	-3.6	0.04277	-1.195000	0.03152	-2.773000	0.03376	-1.542000	0.00977	0.000000	0.06391	0.000000	0.08366	0.242000	0.23054	0.0:0.3319:0.0:0.6681	8.782	0.33955	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2153.98	34	chr17	78972156	.	C	T	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.394;DP=901;ExcessHet=0.0000;FS=4.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-9.260e-01;SOR=1.006	GT:AD:DP:GQ:PL	0/1:103,87:190:99:2168,0,2582	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:77,0,78:158:99:.:.:875,1244,5535,0,3435,3192	1	6	9	4
chr17	80090222	80090346	GGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	-	exonic	CCDC40	.	frameshift deletion	CCDC40:NM_001243342:exon18:c.2916_3040del:p.T982Qfs*70,	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.074e-05	8.547e-05	4.897e-05	7.234e-05	0.0004	4.629e-05	4.131e-05	0.0002	0.0002	5.962e-05	0.0001	0.0001	0.0004	7.497e-05	0	3.796e-05	8.809e-05	7.133e-05	3.551e-05	7.568e-05	4.149e-05	2.919e-05	0.0002	1.338e-05	8.54e-06	1.231e-05	6.41e-06	2.656e-05	0	0	0	0.0002	0	0	4.637e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	147.03	72	chr17	80090221	.	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	147.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.09;DP=2574;ExcessHet=0.1072;FS=3.869;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.31;MQRankSum=1.33;QD=0.47;ReadPosRankSum=-8.297e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/2:77,0,78:158:99:875,1244,5535,0,3435,3192	19	0	1	0
chr17	80090221	80090346	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	147.03	72	chr17	80090221	.	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	147.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.09;DP=2574;ExcessHet=0.1072;FS=3.869;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.31;MQRankSum=1.33;QD=0.47;ReadPosRankSum=-8.297e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/2:77,0,78:158:99:875,1244,5535,0,3435,3192	19	0	1	0
chr17	80090253	80090346	CGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	2	1467	32	5	16	58	0.0141129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1241.03	72	chr17	80090253	.	CGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	1241.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.596;DP=2514;ExcessHet=0.1072;FS=2.643;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.62;MQRankSum=0.303;QD=4.07;ReadPosRankSum=-3.371e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/1:99,45,0:144:99:1255,0,3951,1553,4084,5637	19	0	1	0
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:99,0,45:144:99:.:.:1255,1553,5637,0,4084,3951	1	7	4	7
chr17	81099956	81099956	G	A	exonic	BAIAP2	.	nonsynonymous SNV	BAIAP2:NM_001385150:exon5:c.G284A:p.G95D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.997	D	0.905	P	0.000	D	1.000	D	1.355	L	1.94	T	-1.057	T	0.128	T	0.491	3.773	19.16	5.27	2.459	4.845	18.895	0.090	0.0135401794126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.35918	T	0.099	0.46182	T	0.875	0.57405	P	0.445	0.60045	B	0.000001	0.84330	D	0.095072	0.999883	0.50402	D	1.1	0.28011	L	1.51	0.31731	T	-1.31	0.32791	N	0.667	0.71410	-1.0567	0.12595	T	0.128	0.43585	T	10	0.33673078	0.50808	T	0.01354	0.33021	T	0.090	0.26093	0.344	0.33788	0.869081438439	0.86780	0.358442193590283	0.35758	1.72282248661	0.90611	0.691663742065	0.65946	T	0.339766	0.70887	T	-0.0894958	0.38160	T	-0.366331	0.37318	T	0.765682995319366	0.44183	D	0.948205	0.81731	D	0.5143458	0.67933	0.36426824	0.61798	0.5143458	0.67934	0.36426824	0.61797	-15.011	0.95878	D	.	.	0.307	0.61093	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.358603	0.67009	25.0	0.99755617860320722	0.84615	0.95266	0.64057	D	AEFDGBI	0.762683	0.70002	D	0.292355521431058	0.55761	3.740178	0.326131937126945	0.57079	3.872634	0.999609461553405	0.40866	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	4.148000	0.57856	11.665000	0.94033	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	18.895	0.92392	.	.	.;.;.;IMD/I-BAR domain|IMD/I-BAR domain;.;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR 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	1100.98	36	chr17	81099956	.	G	A	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=787;ExcessHet=0.0000;FS=3.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.929;SOR=0.425	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1115,0,807	20	0	1	0
chr17	82052365	82052365	C	T	exonic	GPS1	.	nonsynonymous SNV	GPS1:NM_212492:exon1:c.C59T:p.T20I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.006	B	0.013	B	.	.	1.000	N	0.895	L	.	.	-0.999	T	0.096	T	0.074	1.438	10.75	0.939	-0.114	1.268	11.799	0.050	0.0541541720372	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234429765	2.739e-06	2.736e-06	4.088e-06	1.377e-06	8.996e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.721e-05	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.026	0.60972	D	0.006	0.13644	B	0.013	0.16460	B	.	.	.	.	0.999998	0.58761	D	.	.	.	.	.	.	-0.32	0.12283	N	0.099	0.14054	-0.9994	0.30087	T	0.096	0.36081	T	8	0.050456047	0.04780	T	0.054154	0.65748	D	0.050	0.13987	0.157	0.06070	0.128874641272	0.12493	0.16175844046670257	0.16096	0.627997658997	0.56873	.	.	.	0.011597	0.10390	T	-0.243168	0.14947	T	-0.58707	0.13920	T	0.146373629875	0.16811	T	0.675932	0.28448	T	.	.	.	.	.	.	.	.	-6.743	0.52133	T	.	.	0.106	0.22609	B	.;.;.;.;.;.	.;.;.;.;.;.	2.000967	0.25425	16.76	0.97619744113331697	0.34954	0.16792	0.19551	N	AEFDGBCI	0.102657	0.20587	N	-0.852685534989736	0.11984	0.5814554	-0.86940050707363	0.12822	0.6618052	0.99999362818643	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	3.27	0.939	0.18631	0.629000	0.24229	2.328000	0.32177	-0.362000	0.05498	0.003000	0.16062	0.998000	0.33993	0.930000	0.46718	0.0:0.6578:0.3422:0.0	11.799	0.51390	.	.	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1627.98	35	chr17	82052365	.	C	T	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.890e-01;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.297;SOR=0.653	GT:AD:DP:GQ:PL	0/1:59,68:127:99:1642,0,1410	20	0	1	0
chr17	82101721	82101721	C	A	exonic	CCDC57	.	nonsynonymous SNV	CCDC57:NM_001367828:exon17:c.G1569T:p.Q523H	.	.	419	1098	5	0	0	5	0.00227169	.	.	2672891	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.987	D	0.865	P	.	.	1.000	N	0.805	L	2.57	T	-1.061	T	0.040	T	0.107	0.046	4.253	2.27	0.482	0.023	4.468	0.083	0.00652324118173	.	.	0.0001	0	0	0	0.0003	9.071e-05	0	0.0003	9.06e-05	14	154602	rs778373349	9.414e-05	9.645e-05	8.342e-05	0.0001	0.0028	8.129e-05	7.618e-05	0.0017	0.0014	3.026e-05	2.308e-05	0	0	0.0004	0.0028	5.587e-05	0.0002	0.0003	7.883e-05	7.879e-05	7.705e-05	8.07e-05	0.0001	4.496e-05	3.511e-05	5.842e-05	4.24e-05	0	0	6.543e-05	0	0	9.409e-05	0	0.0001	0.0010	0	0.097	0.30943	T	0.03	0.54159	D	0.987	0.61912	D	0.865	0.61524	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.57	0.13552	T	-1.59	0.38345	N	0.164	0.17278	-1.0606	0.11607	T	0.040	0.17362	T	9	0.09540343	0.17038	T	0.006523	0.17186	T	0.083	0.24192	0.142	0.04556	0.403328974453	0.39946	.	.	.	.	0.241057351232	0.02886	T	0.00855	0.07843	T	-0.523547	0.00419	T	-0.697666	0.05954	T	0.0400891751050949	0.03707	T	0.475952	0.14261	T	0.05568912	0.10857	0.04566919	0.06197	0.05568912	0.10856	0.04566919	0.06196	.	.	.	.	.	0.225	0.45665	B	.;.	.;.	0.885690	0.12589	9.117	0.95639040115299123	0.27433	0.10010	0.15632	N	AEFBCI	0.061198	0.11683	N	-0.565795717266954	0.19991	1.050571	-0.757400576351884	0.15540	0.8178113	0.999993391931782	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.584781	0.30282	0	0.592323	0.36904	0	.	.	3.26	2.27	0.27501	0.110000	0.15273	0.185000	0.15676	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2161:0.6571:0.0:0.1268	4.468	0.11119	.	.	.;.	.	.	.	.	.	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	3129.11	36	chr17	82101721	.	C	A	3129.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.170e-01;DP=1070;ExcessHet=0.1072;FS=3.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=1.91;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,79:129:99:.:.:1847,0,1160	19	0	2	0
chr18	669146	669146	A	G	exonic	TYMS	.	nonsynonymous SNV	TYMS:NM_001354868:exon2:c.A280G:p.I94V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.813	P	0.573	P	0.000	D	1.000	D	3.695	H	.	.	0.084	D	0.460	T	0.36	3.870	19.67	3.02	0.907	5.753	12.411	0.609	0.0150012600929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.487	0.36886	P	0.573	0.49966	P	0.000000	0.84330	D	0.090944	1	0.81001	D	3.18	0.88827	M	.	.	.	-0.67	0.20576	N	0.435	0.47395	0.084	0.83871	D	0.460	0.79061	T	9	0.5036172	0.61691	D	0.015001	0.35474	T	0.609	0.84666	0.642	0.77903	0.340919117937	0.33698	0.57782318669284	0.57711	0.876382934453	0.69585	0.559849262238	0.47247	T	0.352247	0.71971	T	0.0461689	0.57847	T	-0.171458	0.57309	T	0.938693404197693	0.60952	D	0.974802	0.92791	D	0.5951796	0.72431	0.33740193	0.59531	0.5951796	0.72432	0.33740193	0.59530	-10.087	0.74431	D	.	.	0.265	0.52977	B	.;.	.;.	3.839067	0.55545	23.6	0.99873322863001357	0.95076	0.97660	0.76227	D	AEFDBCI	0.737997	0.68302	D	0.471780638985753	0.65449	4.823928	0.424275414619141	0.63080	4.53498	0.999999747572527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	3.02	0.33970	5.743000	0.68292	7.836000	0.70319	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7349:0.2651:0.0:0.0	12.411	0.54800	840	0.37365	Thymidylate synthase/dCMP hydroxymethylase domain|Thymidylate synthase/dCMP hydroxymethylase 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	549.98	40	chr18	669146	.	A	G	549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.919e+00;DP=1080;ExcessHet=0.0000;FS=313.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.05;SOR=8.688	GT:AD:DP:GQ:PL	0/1:130,56:186:99:564,0,2337	20	0	1	0
chr18	3134813	3134813	C	G	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon16:c.G2221C:p.A741P	.	.	.	.	.	.	.	.	.	.	.	469707	Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.007	B	0.047	B	0.067	N	0.855	N	0.245	N	0.26	T	-0.990	T	0.125	T	0.089	0.569	7.076	-3.02	-0.931	0.032	28.919	0.157	.	.	0.00199681	0.0005	0	0	0	0	0	0.0011	0.0037	0.0004657	72	154602	rs546357155	0.0001	0.0001	0.0001	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	1.799e-06	0.0004	0.0022	7.881e-05	7.876e-05	7.712e-05	8.058e-05	0.0025	4.495e-05	3.511e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.686	0.61437	T	0.23	0.25135	T	0.005	0.14184	B	0.047	0.24832	B	0.067216	0.21757	N	0.536295	0.854837	0.28443	N	0.37	0.12060	N	0.26	0.59717	T	-1.46	0.70432	N	0.25	0.28264	-0.9895	0.32727	T	0.125	0.43028	T	10	0.010400057	0.00232	T	.	.	.	0.157	0.40909	0.66	0.79791	0.409124616982	0.40530	0.5440596122743213	0.54331	0.208088668149	0.23278	0.362997800112	0.19822	T	0.049566	0.28344	T	-0.339086	0.05452	T	-0.555722	0.16781	T	0.0075053666052634	0.00087	T	0.827517	0.50161	T	0.23450685	0.46272	0.27043438	0.52935	0.1769359	0.38632	0.29394636	0.55422	-2.831	0.21388	T	0.10750492269671637	0.08758	0.231	0.46331	B	.;.;.	.;.;.	1.034015	0.14140	10.72	0.61560115668723969	0.06739	0.12519	0.17318	N	AEFBI	0.206121	0.33241	N	-1.06687642960823	0.07261	0.3367342	-1.04134680438322	0.08888	0.4392714	0.0466935118514958	0.14700	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.68	-3.02	0.05116	0.052000	0.14046	0.168000	0.15485	0.596000	0.33519	0.120000	0.23175	0.768000	0.26677	0.967000	0.53440	0.0:0.1841:0.8159:0.0	28.919	0.99999	872	0.31118	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2451.98	36	chr18	3134813	.	C	G	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=961;ExcessHet=0.0000;FS=1.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=0.623;SOR=0.592	GT:AD:DP:GQ:PL	0/1:75,100:175:99:2466,0,1737	20	0	1	0
chr18	3729160	3729162	GGT	-	exonic	DLGAP1	.	nonframeshift deletion	DLGAP1:NM_001003809:exon4:c.658_660del:p.T220del	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0.000798722	0.0004	0	8.973e-05	0	0	0.0003	0	0.0015	0.0003558	55	154602	rs560690735	0.0003	0.0003	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	0	6.715e-05	0	0	3.788e-05	0.0016	0.0002	0.0004	0.0018	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	9.695e-05	0.0003	0.0002	7.216e-05	0	6.533e-05	0	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	786.94	33	chr18	3729159	.	CGGT	C	786.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=749;ExcessHet=0.0000;FS=1.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.535;SOR=0.895	GT:AD:DP:GQ:PL	0/1:27,21:48:99:801,0,1046	20	0	1	0
chr18	7456123	7456123	A	G	exonic	LOC112577592	.	nonsynonymous SNV	LOC112577592:NM_001364581:exon2:c.T329C:p.V110A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186804649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	37.06	1	chr18	7456123	.	A	G	37.06	.	AC=2;AF=0.083;AN=24;DP=57;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2596;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=18.53;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	9
chr18	7456192	7456192	C	T	exonic	LOC112577592	.	nonsynonymous SNV	LOC112577592:NM_001364581:exon2:c.G260A:p.G87D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	35.47	1	chr18	7456192	.	C	T	35.47	.	AC=2;AF=0.067;AN=30;DP=57;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1731;MLEAC=2;MLEAF=0.067;MQ=60.00;QD=17.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	14	1	0	6
chr18	9254628	9254628	T	C	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.T1292C:p.M431T	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.0	B	0.0	B	0.418	N	1.000	N	-0.205	N	3.52	T	-0.907	T	0.009	T	0.036	-1.364	0.027	-5.56	-1.058	0.150	16.123	0.082	0.00638985484201	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.000194	30	154602	rs150317182	0.0002	0.0002	0.0002	0.0002	0.0039	0.0002	0.0001	0.0026	0.0022	3.134e-05	0.0002	0.0002	0	1.901e-05	0.0039	0.0001	0.0004	0.0003	0.0001	0.0001	0.0001	8.083e-05	0.0002	7.104e-05	5.758e-05	0.0001	0.0001	0	0	0	0.0003	0	9.498e-05	0	0.0002	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.417861	0.04630	N	1.286240	1	0.08975	N	-1.355	0.00654	N	3.52	0.04905	T	1.13	0.01182	N	0.018	0.00571	-0.9071	0.47203	T	0.009	0.03271	T	10	0.008126706	0.00184	T	0.00639	0.16812	T	0.082	0.23913	.	.	0.082315109003	0.07666	0.02471838716508741	0.02422	.	.	0.239306390285	0.02728	T	0.004806	0.04217	T	-0.624253	0.00104	T	-0.825605	0.01342	T	0.0118600594529974	0.00185	T	0.0686931	0.00502	T	0.018711464	0.00393	0.062108982	0.12101	0.018711464	0.00393	0.062108982	0.12100	-2.029	0.03292	T	.	.	0.065	0.02038	B	.;.	.;.	-0.726678	0.01260	0.065	0.6755100598270174	0.08388	0.05497	0.11383	N	AEFBI	0.077174	0.15543	N	-1.55640484492623	0.01498	0.06538341	-1.54106071239801	0.02038	0.09316186	0.976390832363384	0.29721	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.95	-5.56	0.02328	0.163000	0.16338	-0.598000	0.08285	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.942000	0.48361	0.0:0.5655:0.0:0.4345	16.123	0.81187	356	0.85138	.;.	.	.	.	.	.	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	1665.98	34	chr18	9254628	.	T	C	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.466e+00;DP=836;ExcessHet=0.0000;FS=3.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=0.706;SOR=0.421	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1680,0,1350	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:7,259,252:518:99:.:.:13954,7644,10247,6672,0,9105	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	0|1:296,252,0:548:99:0|1:9887405_CCAAGGAGGG_*:7085,0,10833,8006,11622,22511:9887405	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	0|1:296,252,0:548:99:0|1:9887405_CCAAGGAGGG_*:7085,0,10833,8006,11622,22511:9887405	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	0|1:303,252,0:555:99:0|1:9887405_CCAAGGAGGG_*:7031,0,11581,7999,12297,22944:9887405	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	0|1:303,252,0:555:99:0|1:9887405_CCAAGGAGGG_*:7031,0,11581,7999,12297,22944:9887405	7	3	8	2
chr18	14763845	14763845	A	C	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon7:c.A980C:p.K327T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.736	P	0.188	B	.	.	1.000	N	1.245	L	1.33	T	-1.060	T	0.051	T	0.155	0.562	7.036	-0.47	-0.738	-0.668	.	0.116	0.0243909087441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.128	0.34959	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.32	0.35219	T	-1.53	0.37178	N	0.077	0.05162	-1.0601	0.11731	T	0.051	0.21533	T	8	0.06541929	0.08822	T	0.024391	0.47377	T	0.116	0.32463	0.448	0.50793	0.0762999501168	0.06990	0.11035155440413794	0.10964	0.108879720008	0.12275	0.549918830395	0.45846	T	0.00248	0.01875	T	-0.242572	0.15022	T	-0.586215	0.13995	T	0.198929131031036	0.20357	T	0.431557	0.11736	T	0.13530983	0.31409	0.109059915	0.26279	0.13530983	0.31408	0.109059915	0.26278	-5.769	0.44303	T	.	.	0.214	0.44280	B	.	.	1.463176	0.18861	13.96	0.98288235213150221	0.39926	0.00142	0.00866	N	AEFI	0.029639	0.02836	N	-1.16736189540889	0.05500	0.2508969	-1.38463652536693	0.03415	0.1592509	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	0.311000	0.19129	.	.	0.365000	0.20147	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	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	2719.98	37	chr18	14763845	.	A	C	2719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.563e+00;DP=936;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-5.340e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:104,109:213:99:2734,0,2909	20	0	1	0
chr18	23901136	23901136	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon10:c.G1019A:p.R340Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1929910	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.692	P	0.132	B	.	.	0.992	D	2.38	M	2.78	T	-1.077	T	0.030	T	0.179	2.078	12.90	1.88	0.124	1.016	9.856	0.099	0.0134280156378	.	0.000399361	0.0001	0	8.711e-05	0	0	7.521e-05	0	0.0005	0.0001164	18	154602	rs556381641	9.988e-05	0.0001	8.441e-05	0.0001	0.0005	8.646e-05	8.135e-05	0.0004	0.0004	0	0.0001	3.826e-05	0	0	0	7.735e-05	0.0001	0.0005	5.253e-05	5.25e-05	1.285e-05	9.399e-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	0.052	0.39097	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	0.86307	0.41431	D	.	.	.	2.78	0.11298	T	-2.88	0.60507	D	0.079	0.13911	-1.0773	0.07881	T	0.030	0.12848	T	9	0.026670814	0.00829	T	0.013428	0.32827	T	0.099	0.28413	.	.	0.296679040009	0.29266	0.29560233306662514	0.29473	0.155856096555	0.17590	0.268794953823	0.05985	T	0.01988	0.15755	T	-0.4899	0.00651	T	-0.598753	0.12915	T	0.0654497147496634	0.07998	T	0.662834	0.39759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.11749	B	.;.;.;.;.	.;.;.;.;.	2.214978	0.28262	17.74	0.994191929124009	0.63694	0.73210	0.35814	D	ALL	0.120950	0.23537	N	-0.367364449514171	0.26638	1.455388	-0.38283852467697	0.25509	1.403242	0.999999933588115	0.74766	0.616025	0.39624	0	0.574621	0.32753	0	0.550215	0.18615	0	0.548927	0.17530	0	.	.	5.76	1.88	0.24630	0.821000	0.26993	0.775000	0.21430	-0.106000	0.15538	0.995000	0.38783	0.019000	0.20708	0.682000	0.33600	0.2819:0.0:0.7181:0.0	9.856	0.40255	491	0.76657	.;Laminin alpha, domain I;.;Laminin alpha, domain I;Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1060.98	34	chr18	23901136	.	G	A	1060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.949;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.324e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1075,0,1047	20	0	1	0
chr18	31469175	31469175	C	T	exonic	DSG3	.	nonsynonymous SNV	DSG3:NM_001944:exon12:c.C1723T:p.R575W,	.	.	431	1066	24	1	0	26	0.0120482	.	.	715941	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.952	P	0.339	B	0.420	N	1.000	N	0.69	N	0.26	T	-0.977	T	0.088	T	0.052	2.451	14.16	0.463	0.118	-0.080	5.601	0.118	.	0.0086	0.00459265	0.0067	0.0022	0.0028	0	0.0038	0.0082	0.0099	0.0105	0.0068304	1056	154602	rs61730311	0.0096	0.0096	0.0095	0.0096	0.0110	0.0094	0.0094	0.0106	0.0105	0.0015	0.0029	0.0047	0	0.0037	0.0081	0.0108	0.0087	0.0110	0.0061	0.0061	0.0065	0.0056	0.0116	0.0057	0.0056	0.0092	0.0087	0.0020	0	0.0054	0.0049	0	0.0026	0	0.0096	0.0024	0.0116	0.004	0.65419	D	0.017	0.60337	D	0.952	0.54136	P	0.339	0.42346	B	0.420484	0.04645	N	1.487420	1	0.08975	N	1.7	0.43825	L	0.26	0.59314	T	-2.05	0.47008	N	0.171	0.18239	-0.9773	0.35616	T	0.088	0.34078	T	10	0.015473664	0.00325	T	.	.	.	0.118	0.32913	.	.	0.688633057668	0.68596	0.5235609868025842	0.52280	0.114637252585	0.12932	0.196305915713	0.00357	T	0.298465	0.67102	T	-0.599532	0.00147	T	-0.621639	0.11057	T	0.017832634025567	0.00511	T	0.224178	0.02920	T	0.053436227	0.10111	0.04566627	0.06197	0.053436227	0.10111	0.04566627	0.06196	-9.348	0.69909	D	.	.	0.110	0.21087	B	.	.	1.612265	0.20598	14.82	0.9902769683644721	0.50721	0.09060	0.14890	N	AEFBCI	0.096551	0.19490	N	-0.694827379460152	0.16168	0.8213565	-0.80866395656276	0.14286	0.7456584	0.0610422171583938	0.15217	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	0.463	0.15912	-0.065000	0.11575	-0.343000	0.09801	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.5361:0.3006:0.0:0.1633	5.601	0.16633	723	0.55174	.	.	.	.	.	.	Likely benign	0	0	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	1729.98	39	chr18	31469175	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.632;DP=892;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.770;SOR=0.659	GT:AD:DP:GQ:PL	0/1:67,74:141:99:1744,0,1465	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:32,35:67:99:200,0,278	1	0	20	0
chr18	37160327	37160327	A	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001353919:exon7:c.A1036C:p.K346Q	.	.	428	1068	26	0	0	26	0.0120259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.228	B	0.083	B	0.061	N	1.000	N	0.55	N	0.96	T	-1.043	T	0.057	T	0.186	1.217	9.941	4.0	1.440	1.159	9.785	0.047	.	0.0056	0.00359425	0.0063	0.0012	0.0068	0	0.0107	0.0075	0.0090	0.0055	0.0061189	946	154602	rs140424487	0.0077	0.0077	0.0077	0.0076	0.0175	0.0076	0.0075	0.0147	0.0137	0.0013	0.0059	0.0022	5.041e-05	0.0094	0.0175	0.0083	0.0081	0.0056	0.0060	0.0060	0.0058	0.0062	0.0088	0.0057	0.0055	0.0082	0.0080	0.0013	0	0.0071	0.0023	0	0.0098	0.0102	0.0088	0.0033	0.0054	0.076	0.34269	T	0.522	0.52060	T	0.082	0.30509	B	0.058	0.29179	B	0.061018	0.22205	N	0.494055	0.999134	0.21661	N	0.69	0.16971	N	0.96	0.46777	T	-0.59	0.17624	N	0.048	0.13626	-1.0427	0.16503	T	0.057	0.23980	T	10	0.0052022636	0.00113	T	.	.	.	0.047	0.12962	.	.	0.225902525712	0.22197	0.023553109770871192	0.02307	0.049419998863	0.05411	0.274411737919	0.06725	T	0.006163	0.05598	T	-0.546525	0.00306	T	-0.552694	0.17068	T	0.00669482875939909	0.00075	T	0.789121	0.42899	T	0.076678805	0.17358	0.05078114	0.08039	0.076678805	0.17358	0.05078114	0.08038	-3.184	0.17625	T	.	.	0.088	0.24633	B	.;.;.	.;.;.	1.738966	0.22131	15.49	0.96158279085562681	0.28890	0.50530	0.28684	D	AEFDBHCIJ	0.089290	0.18099	N	-0.550100810002571	0.20481	1.079953	-0.42009942888353	0.24408	1.336392	0.987045826263512	0.31174	0.638212	0.43195	0	0.588015	0.36545	0	0.55559	0.18752	1	0.668105	0.65232	0	.	.	5.82	4.0	0.45673	1.200000	0.31854	5.647000	0.49169	-0.274000	0.06627	0.906000	0.31575	1.000000	0.68203	0.617000	0.31819	0.1688:0.0:0.8312:0.0	9.785	0.39838	777	0.48198	.;.;.	.	.	.	.	.	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	917.98	35	chr18	37160327	.	A	C	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-5.710e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/1:43,36:79:99:932,0,1041	20	0	1	0
chr18	46518226	46518226	C	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon2:c.G19T:p.D7Y	Deafness, autosomal recessive 77, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.000	D	1.000	N	2.915	M	1.26	T	-0.685	T	0.253	T	0.957	1.568	11.20	4.21	1.133	5.585	15.059	0.449	0.143207658476	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452586898	7.146e-07	6.84e-07	0	1.449e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.78490	T	0.005	0.83351	D	0.999	0.77913	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	0.999938	0.52935	D	.	.	.	1.26	0.36330	T	-7.86	0.96915	D	0.719	0.73735	-0.6848	0.61150	T	0.253	0.62246	T	10	0.834834	0.82641	D	0.143208	0.82555	D	0.449	0.75004	0.659	0.79689	0.229924730088	0.22615	0.8724226028615714	0.87208	.	.	0.720767736435	0.70159	T	0.204524	0.56332	T	0.262452	0.79756	D	0.139218	0.79495	D	0.984527111053467	0.75805	D	0.957904	0.84151	D	0.36240658	0.58019	0.39127123	0.63902	0.36240658	0.58019	0.39127123	0.63902	-11.936	0.84537	D	.	.	0.474	0.78636	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.792314	0.77791	26.8	0.87753280098455189	0.17456	0.89950	0.50757	D	AEFDBCI	0.644366	0.62064	D	0.151025465256561	0.48859	3.093156	0.0953828313952468	0.44316	2.715711	0.999989195582554	0.51787	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.09	4.21	0.48984	5.806000	0.68817	7.523000	0.59793	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.1427:0.8573:0.0:0.0	15.059	0.71600	940	0.13648	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1858.98	33	chr18	46518226	.	C	A	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.220e-01;DP=910;ExcessHet=0.0000;FS=1.107;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=1.09;SOR=0.696	GT:AD:DP:GQ:PL	0/1:119,82:201:99:1873,0,3018	20	0	1	0
chr18	46579680	46579680	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001384474:exon13:c.C1759T:p.R587W	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	230965	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.000	D	1.000	D	3.13	M	1.93	T	0.198	D	0.520	D	0.986	2.061	12.85	4.34	1.306	4.574	15.296	0.269	0.0908119251087	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs540100675	6.503e-05	6.293e-05	6.063e-05	6.954e-05	0.0002	5.391e-05	4.993e-05	0.0001	0.0001	3.165e-05	8.402e-05	0	8.394e-05	6.086e-05	0	6.024e-05	0	0.0002	0.0001	0.0001	0.0001	0.0002	0.0004	8.66e-05	7.253e-05	9.048e-05	7.012e-05	7.222e-05	0	6.532e-05	0	0.0004	0.0002	0	0.0002	0	0.0002	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.933513	0.43084	D	.	.	.	1.93	0.22881	T	-6.04	0.89759	D	0.854	0.85027	0.198	0.85868	D	0.520	0.82057	D	10	0.7002468	0.72398	D	0.090812	0.75588	D	0.530	0.80188	.	.	0.220303561663	0.21668	0.7752670733767262	0.77476	.	.	0.616257429123	0.55200	T	.	.	.	0.0365105	0.56585	T	0.0941034	0.76518	D	0.842197179794312	0.49508	D	0.974903	0.91072	D	0.6447332	0.75083	0.38137734	0.63148	0.5786561	0.71536	0.37738836	0.62839	-11.346	0.81521	D	.	.	0.658	0.73450	P	.;.;.	.;.;.	4.386760	0.67666	25.1	0.97823660786668909	0.36213	0.93337	0.57947	D	AEFGBI	0.789812	0.71889	D	0.38343892023685	0.60524	4.242283	0.383366520518425	0.60540	4.242578	0.785453428105703	0.23921	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	4.34	0.51267	5.032000	0.63926	3.835000	0.40014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.859:0.141	15.296	0.73609	795	0.45444	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1680.98	39	chr18	46579680	.	G	A	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=861;ExcessHet=0.0000;FS=3.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=1.27;SOR=0.450	GT:AD:DP:GQ:PL	0/1:89,69:158:99:1695,0,2141	20	0	1	0
chr18	47098222	47098222	-	A	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829dupA:p.S281Kfs*11	.	.	734	696	20	0	72	92	0.0141643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/2:26,2,20,0:48:99:379,462,1215,0,554,557,497,1155,613,1174	15	0	2	0
chr18	47098222	47098222	-	AA	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829_830insAA:p.S281Kfs*4	.	.	1	172	24	0	29	53	0.0652174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/2:26,2,20,0:48:99:379,462,1215,0,554,557,497,1155,613,1174	15	0	2	0
chr18	63597110	63597110	C	T	exonic	SERPINB13	.	nonsynonymous SNV	SERPINB13:NM_001348269:exon6:c.C386T:p.A129V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.955	P	0.472	P	0.222	N	1.000	N	1.31	L	-1.87	D	-0.629	T	0.407	T	0.095	1.850	12.14	1.97	0.582	-0.142	5.869	0.147	0.0166946469369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18626	T	0.68	0.07444	T	0.955	0.54515	P	0.472	0.46817	P	0.222329	0.16109	N	0.561708	1	0.08975	N	1.45	0.36711	L	-1.87	0.84415	D	-1.2	0.30555	N	0.064	0.03613	-0.6293	0.63601	T	0.407	0.75692	T	10	0.49965242	0.61472	T	0.016695	0.38080	T	0.147	0.38986	0.482	0.56302	0.6544015285	0.65151	0.5185312404041711	0.51776	0.0328635747736	0.03436	0.259542405605	0.04837	T	0.092998	0.39120	T	-0.161923	0.26466	T	-0.470368	0.25476	T	0.337232410907745	0.26513	T	0.327667	0.06803	T	0.057525843	0.11460	0.06507007	0.13137	0.057525843	0.11459	0.06507007	0.13136	-3.919	0.22587	T	.	.	0.105	0.27821	B	.;.	.;.	0.972460	0.13494	10.02	0.96171112765781852	0.28930	0.03965	0.09373	N	AEFGBI	0.091394	0.18513	N	-0.706679804523077	0.15834	0.8014813	-0.782807714644571	0.14917	0.7819073	0.044924931494624	0.14632	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	1.97	0.25278	-0.140000	0.10323	-1.242000	0.05930	-0.228000	0.07776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4822:0.3824:0.1354	5.869	0.18039	916	0.20744	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	1527.98	114	chr18	63597110	.	C	T	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.105e+00;DP=2086;ExcessHet=0.0000;FS=3.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-7.850e-01;SOR=0.985	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1542,0,1904	20	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,32:86:99:0|1:65824683_C_G:339,0,1258:65824683	0	0	20	1
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|1:24,22:46:99:0|1:79373905_C_G:217,0,433:79373905	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|1:24,22,0:46:99:0|1:79373905_C_G:217,0,433,287,494,781:79373905	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|1:24,22,0:46:99:0|1:79373905_C_G:217,0,433,287,494,781:79373905	4	0	7	9
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	1/1:0,92,0,0:92:99:.:.:3840,264,0,3850,275,3861,3850,275,3861,3861	1	10	5	0
chr19	1003241	1003241	C	T	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon2:c.C538T:p.R180C,	.	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.033	B	0.007	B	0.988	N	0.593	D	1.245	L	2.72	T	-1.048	T	0.031	T	0.239	0.421	6.285	2.35	0.641	1.686	9.432	0.032	0.0526925060201	0.0004	0.00119808	0.0006	0	0	0	0	0.0010	0	0.0003	0.0003169	49	154602	rs201484790	0.0006	0.0006	0.0006	0.0006	0.0020	0.0006	0.0005	0.0011	0.0009	9.605e-05	0.0004	4.036e-05	0	6.031e-05	0.0020	0.0007	0.0007	0.0004	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0003	0	0	0	0.0034	0.0006	0.0019	0.0004	0.059	0.37536	T	0.078	0.42261	T	0.033	0.20350	B	0.007	0.12992	B	0.988350	0.08047	N	0.994265	0.592816	0.32471	D	1.32	0.33002	L	2.72	0.11947	T	-1.72	0.40850	N	0.295	0.33360	-1.0477	0.15045	T	0.031	0.13374	T	10	0.020125479	0.00459	T	0.052693	0.65173	D	0.032	0.07718	.	.	0.440915056915	0.43709	0.49330729102186666	0.49251	0.160666059262	0.18132	0.788057684898	0.80147	T	0.086221	0.37676	T	-0.500745	0.00566	T	-0.583612	0.14223	T	0.0342810146935094	0.02686	T	0.551745	0.19033	T	0.081757136	0.18801	0.04599558	0.06313	0.081757136	0.18801	0.04599558	0.06313	-7.606	0.58353	D	.	.	0.265	0.49960	B	.	.	3.125485	0.42209	21.5	0.97680791043305082	0.35311	0.65860	0.32880	D	AEFDBI	0.085598	0.17354	N	-0.606176760632863	0.18758	0.9764332	-0.596855689087865	0.19574	1.050839	0.0123213860410079	0.12311	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.421638	0.06922	2	.	.	3.4	2.35	0.28166	1.519000	0.35495	1.326000	0.25636	-0.288000	0.06323	0.816000	0.29934	0.746000	0.26516	0.001000	0.02609	0.0:0.89:0.0:0.11	9.432	0.37776	988	0.01987	.	.	.	.	.	.	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	902.98	42	chr19	1003241	.	C	T	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=814;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-4.550e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/1:36,32:68:99:917,0,927	20	0	1	0
chr19	3730619	3730619	C	A	exonic	TJP3	.	nonsynonymous SNV	TJP3:NM_001267560:exon5:c.C526A:p.L176M	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	1.0	D	0.999	D	0.155	N	0.898	D	1.1	L	3.13	T	-1.069	T	0.009	T	0.29	2.933	15.78	2.47	0.921	2.402	9.475	0.112	.	0.0090	0.0107827	0.0028	0.0320	0.0011	0	0	0.0002	0.0023	0	0.0027167	420	154602	rs138301512	0.0010	0.0010	0.0010	0.0009	0.0304	0.0009	0.0009	0.0288	0.0282	0.0304	0.0020	0	0	0	0.0012	0.0001	0.0022	6.956e-05	0.0087	0.0087	0.0090	0.0084	0.0298	0.0083	0.0082	0.0284	0.0278	0.0298	0	0.0039	0	0	0	0	0.0002	0.0090	0.0002	0.072	0.34982	T	0.303	0.23707	T	1.0	0.90584	D	0.999	0.92359	D	0.154617	0.17856	N	0.515300	0.840971	0.36098	D	2.42	0.70002	M	2.99	0.09262	T	-0.14	0.09135	N	0.458	0.49511	-1.0692	0.09590	T	0.009	0.03096	T	10	0.0048835874	0.00104	T	.	.	.	0.112	0.31546	.	.	0.0611884634855	0.05136	0.25545121579367996	0.25459	0.559436985123	0.52489	0.671503543854	0.63052	T	0.126795	0.45340	T	-0.525978	0.00406	T	-0.504622	0.21868	T	0.0441929449910255	0.04455	T	0.805019	0.45286	T	0.08137048	0.18693	0.0652149	0.13185	0.08137048	0.18693	0.0652149	0.13184	-4.473	0.31982	T	.	.	0.173	0.45310	B	.;.;.;.	.;.;.;.	2.389292	0.30678	18.51	0.99283855108197427	0.58008	0.96701	0.70478	D	AEFGBI	0.449605	0.50435	N	0.0430193104213559	0.43821	2.667693	0.00120427486480655	0.39772	2.363257	0.00661645726087183	0.11264	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.6	2.47	0.29113	3.438000	0.52634	1.332000	0.25676	-0.431000	0.05201	0.995000	0.38783	0.759000	0.26609	0.276000	0.23917	0.0:0.8258:0.0:0.1742	9.475	0.38031	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1017.98	41	chr19	3730619	.	C	A	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=899;ExcessHet=0.0000;FS=5.896;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-6.630e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:39,38:77:99:1032,0,929	20	0	1	0
chr19	4199926	4199926	A	G	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon4:c.A175G:p.N59D,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.34	B	0.316	B	.	.	0.540	D	1.005	L	1.61	T	-0.981	T	0.058	T	0.128	1.886	12.27	1.3	0.153	1.092	6.484	0.079	0.0127054441614	0.0014	0.000798722	0.0006	0.0057	0.0023	0	0	0	0	0	0.0002652	41	154602	rs143744058	0.0001	0.0001	0.0001	0.0001	0.0052	0.0001	0.0001	0.0046	0.0043	0.0052	0.0003	0	0	0	0.0005	9.168e-07	0.0003	0	0.0015	0.0015	0.0014	0.0015	0.0052	0.0013	0.0012	0.0046	0.0044	0.0052	0	0.0003	0	0	0	0	0	0.0009	0	0.16	0.29959	T	0.112	0.37037	T	0.041	0.33445	B	0.046	0.41603	B	.	.	.	.	0.539876	0.32045	D	0.96	0.23930	L	1.61	0.28391	T	-2.49	0.54864	N	0.337	0.41360	-0.9813	0.34701	T	0.058	0.24502	T	9	0.00720191	0.00164	T	0.012705	0.31501	T	0.079	0.23065	.	.	0.303453137403	0.29957	0.5934390991011288	0.59273	0.640128570775	0.57655	0.682157039642	0.64579	T	0.014401	0.24688	T	-0.568781	0.00225	T	-0.587457	0.13886	T	0.0235909865380955	0.01094	T	0.543046	0.21439	T	0.1468627	0.33600	0.12600228	0.30352	0.1468627	0.33599	0.12600228	0.30351	-8.886	0.71882	D	.	.	0.069	0.24294	B	.;.;.;.	.;.;.;.	1.481262	0.19065	14.07	0.98504537452180918	0.42264	0.72742	0.35595	D	AEFDGBHCI	0.216065	0.34136	N	-0.507598694440789	0.21834	1.161598	-0.437185039214063	0.23915	1.306704	0.995443525409198	0.34130	0.712529	0.81865	0	0.61073	0.52368	0	0.635938	0.45252	0	0.586402	0.36253	0	.	.	4.55	1.3	0.20778	1.117000	0.30848	-0.370000	0.09613	0.554000	0.28208	0.994000	0.38300	0.000000	0.08366	0.822000	0.38733	0.689:0.0:0.311:0.0	6.484	0.21276	923	0.18507	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	851.98	40	chr19	4199926	.	A	G	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.112e+00;DP=1075;ExcessHet=0.0000;FS=2.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.52;ReadPosRankSum=0.208;SOR=0.467	GT:AD:DP:GQ:PL	0/1:60,40:100:99:866,0,1575	20	0	1	0
chr19	4432126	4432126	G	A	exonic	CHAF1A	.	nonsynonymous SNV	CHAF1A:NM_005483:exon12:c.G2122A:p.A708T,	.	.	381	1134	7	0	0	7	0.00307692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.735	P	0.028	B	.	.	1.000	N	-0.255	N	1.81	T	-0.960	T	0.015	T	0.032	0.154	4.829	-9.69	-2.159	-0.241	2.399	0.079	0.00664605484425	0.0004	0.000599042	0.0007	0.0004	0.0002	0	0	0.0007	0.0011	0.0021	0.0006792	105	154602	rs45499793	0.0007	0.0007	0.0007	0.0008	0.0026	0.0007	0.0007	0.0019	0.0018	0.0001	0.0003	7.652e-05	5.038e-05	1.878e-05	0.0026	0.0007	0.0008	0.0022	0.0006	0.0006	0.0007	0.0005	0.0017	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0006	0	0	0	0	0.0009	0.0014	0.0017	0.849	0.02746	T	0.712	0.05488	T	0.735	0.42814	P	0.028	0.21332	B	.	.	.	.	1	0.08975	N	-1.06	0.01056	N	1.81	0.25182	T	-0.09	0.08340	N	0.126	0.11912	-0.9603	0.39124	T	0.015	0.05946	T	9	0.00856483	0.00194	T	0.006646	0.17529	T	0.079	0.23065	.	.	0.449421072434	0.44565	0.29787784503030773	0.29700	0.225725488836	0.25122	0.294832110405	0.09633	T	0.024845	0.18695	T	-0.697951	0.00038	T	-0.781502	0.02408	T	0.00823556504554957	0.00099	T	0.745225	0.36553	T	0.017637555	0.00289	0.074069686	0.16166	0.017637555	0.00289	0.074069686	0.16166	-1.205	0.01258	T	.	.	0.072	0.04316	B	.	.	-0.472947	0.01955	0.168	0.80632255454106083	0.13295	0.08653	0.14552	N	AEFDGBHCI	0.044105	0.07055	N	-1.45535742582328	0.02175	0.09574909	-1.59282021095231	0.01699	0.07718148	0.999999999993184	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.84	-9.69	0.00438	-0.231000	0.09081	-0.603000	0.08260	-1.568000	0.00938	0.000000	0.06391	0.000000	0.08366	0.193000	0.21690	0.2251:0.1073:0.4111:0.2565	2.399	0.04128	825	0.40060	Chromatin assembly factor 1 subunit A, 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	1142.98	33	chr19	4432126	.	G	A	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.379e+00;DP=839;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-1.724e+00;SOR=0.601	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1157,0,1112	20	0	1	0
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	17845.03	225	chr19	4511563	.	C	G,*	17845.03	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=2.12;DP=9752;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.1556;MLEAC=7,1;MLEAF=0.250,0.036;MQ=59.57;MQRankSum=-4.184e+00;QD=4.80;ReadPosRankSum=-5.230e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:617,79,0:696:99:0|1:4511563_C_G:1437,0,25649,3294,25887,29181:4511563	8	0	5	7
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16971.48	491	chr19	4511566	.	A	G,*	16971.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-9.560e-01;DP=10566;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.53;MQRankSum=-3.775e+00;QD=4.50;ReadPosRankSum=-5.408e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:638,79,0:717:99:0|1:4511563_C_G:1373,0,26531,3294,26769,30063:4511563	5	0	5	10
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16047.48	490	chr19	4511568	.	C	T,*	16047.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-4.580e-01;DP=10596;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.50;MQRankSum=-3.556e+00;QD=4.25;ReadPosRankSum=-5.809e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:644,75,0:719:99:0|1:4511563_C_G:1206,0,26816,3144,27041,30186:4511563	5	0	5	10
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	15602.48	490	chr19	4511569	.	A	G,*	15602.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=5.73;DP=10604;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.48;MQRankSum=-3.635e+00;QD=4.12;ReadPosRankSum=-5.967e+00;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:648,74,0:722:99:0|1:4511563_C_G:1152,0,26986,3102,27209,30312:4511563	5	0	5	10
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8809.48	466	chr19	4511586	.	A	G,*	8809.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=3.88;DP=10439;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.07;MQRankSum=-2.351e+00;QD=2.30;ReadPosRankSum=-8.743e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:673,57,0:730:99:0|1:4511563_C_G:337,0,28088,2363,28259,30622:4511563	5	0	5	10
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8200.48	466	chr19	4511587	.	C	G,*	8200.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=2.38;DP=10432;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.03;MQRankSum=-2.455e+00;QD=2.14;ReadPosRankSum=-8.658e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:672,53,0:725:99:0|1:4511563_C_G:172,0,28058,2195,28217,30412:4511563	5	0	5	10
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:255,379,0:634:99:.:.:10334,0,6417,11096,7552,18648	0	10	4	6
chr19	4818155	4818155	G	A	exonic	TICAM1	.	nonsynonymous SNV	TICAM1:NM_001385679:exon2:c.C88T:p.R30C	.	.	1	1516	4	1	0	6	0.00197498	.	.	533197	Herpes_simplex_encephalitis,_susceptibility_to,_4	MONDO:MONDO:0013921,MedGen:C3553869,OMIM:614850,Orphanet:1930	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.013	B	0.005	B	0.351	N	1.000	N	1.5	L	0.83	T	-0.994	T	0.042	T	0.132	2.071	12.88	0.959	0.479	-0.118	10.386	0.031	.	0.0059	0.00339457	0.0014	0.0163	0.0004	0	0	0.0001	0	0	0.0012484	193	154602	rs11466719	0.0006	0.0006	0.0007	0.0005	0.0162	0.0006	0.0005	0.0151	0.0146	0.0162	0.0006	0.0012	0	0	0.0010	0.0001	0.0012	9.282e-05	0.0043	0.0043	0.0042	0.0044	0.0151	0.0041	0.0039	0.0141	0.0137	0.0151	0	0.0010	0.0012	0	0	0	0.0001	0.0028	0.0002	0.09	0.31987	T	0.014	0.62352	D	0.013	0.16609	B	0.005	0.11217	B	0.351476	0.13809	N	0.517019	1	0.08975	N	2.125	0.59049	M	0.83	0.47815	T	-2.09	0.47683	N	0.165	0.17416	-0.9943	0.31485	T	0.042	0.18035	T	10	0.0035818815	0.00065	T	.	.	.	0.031	0.07369	.	.	0.147330786459	0.14319	.	.	0.304014704751	0.32724	0.290169924498	0.08948	T	0.503392	0.82291	D	-0.565229	0.00236	T	-0.571715	0.15292	T	0.00864417867683755	0.00106	T	0.646635	0.25786	T	0.17356603	0.38112	0.09844542	0.23471	0.30511606	0.53360	0.12613325	0.30380	-4.797	0.34556	T	.	.	0.102	0.18122	B	.	.	1.678904	0.21398	15.18	0.98440087603964066	0.41497	0.04698	0.10385	N	AEFBHCI	0.079466	0.16051	N	-0.801896670043771	0.13261	0.6520688	-0.855159008089002	0.13164	0.6813909	0.0115172225124544	0.12196	0.67177	0.52595	0	0.702456	0.74545	0	0.603688	0.36954	0	0.635551	0.53088	0	.	.	4.75	0.959	0.18747	-0.124000	0.10571	0.653000	0.20435	0.618000	0.50648	0.002000	0.15269	0.108000	0.22760	0.633000	0.32236	0.0:0.2474:0.6163:0.1363	10.386	0.43321	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1708.98	38	chr19	4818155	.	G	A	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=896;ExcessHet=0.0000;FS=2.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.329;SOR=0.749	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1723,0,1652	20	0	1	0
chr19	5754216	5754216	C	T	exonic	CATSPERD	.	nonsynonymous SNV	CATSPERD:NM_152784:exon13:c.C1249T:p.P417S,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	1.0	D	0.123	N	1.000	N	1.995	M	1.78	T	-1.099	T	0.027	T	0.078	2.247	13.47	-0.041	0.262	0.468	1.635	0.027	.	0.0063	0.0081869	0.0019	0.0228	8.642e-05	0	0	2.997e-05	0.0011	0.0001	0.0018693	289	154602	rs116784915	0.0006	0.0006	0.0007	0.0005	0.0231	0.0006	0.0006	0.0218	0.0212	0.0231	0.0008	0	0	0	0.0021	2.339e-05	0.0011	5.797e-05	0.0061	0.0061	0.0062	0.0059	0.0215	0.0058	0.0056	0.0203	0.0199	0.0215	0	0.0010	0	0	0	0	0.0001	0.0024	0.0006	0.092	0.31682	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.123447	0.18917	N	0.382752	1	0.08975	N	2.08	0.57402	M	1.78	0.25678	T	-3.89	0.72820	D	0.555	0.58031	-1.0987	0.04252	T	0.027	0.11485	T	10	0.005106479	0.00110	T	.	.	.	0.027	0.05988	.	.	0.185906805712	0.18197	0.7351425892844331	0.73459	0.657697305024	0.58710	0.399948090315	0.25061	T	0.08497	0.37398	T	-0.63168	0.00093	T	-0.661887	0.08139	T	0.0442535740000031	0.04466	T	0.494051	0.15283	T	0.11536417	0.27223	0.16340445	0.37907	0.11536417	0.27223	0.16340445	0.37907	-2.318	0.04655	T	.	.	0.592	0.68536	P	.	.	1.725693	0.21966	15.42	0.99062415837288698	0.51528	0.01610	0.05214	N	AEFDBI	0.030063	0.02955	N	-0.626810077098637	0.18142	0.9395179	-0.844194625245374	0.13426	0.6964728	1.64740138117811E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.53	-0.0412	0.13197	0.484000	0.22017	0.194000	0.15776	-0.231000	0.07715	0.006000	0.17386	0.001000	0.17328	0.003000	0.05239	0.219:0.442:0.2135:0.1255	1.635	0.02576	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1018.98	34	chr19	5754216	.	C	T	1018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.022e+00;SOR=0.708	GT:AD:DP:GQ:PL	0/1:55,40:95:99:1033,0,1378	20	0	1	0
chr19	5843866	5843866	G	A	exonic	FUT3	.	nonsynonymous SNV	FUT3:NM_001097641:exon2:c.C974T:p.T325M	.	.	1	1502	19	0	0	19	0.00628515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.64	P	0.219	B	0.910	N	1.000	N	2.47	M	1.86	T	-1.058	T	0.019	T	0.196	1.839	12.11	1.18	0.242	-1.150	5.412	0.050	.	.	0.00738818	0.0023	0.0199	0.0010	0.0011	0.0002	0.0008	0.0011	0.0004	0.0023674	366	154602	rs28381969	0.0005	0.0025	0.0006	0.0005	0.0166	0.0005	0.0005	0.0155	0.0150	0.0166	0.0009	3.851e-05	0.0007	1.892e-05	0.0017	6.211e-05	0.0011	0.0001	0.0051	0.0069	0.0053	0.0049	0.0170	0.0048	0.0047	0.0159	0.0155	0.0170	0.0011	0.0019	0	0.0004	0.0002	0	0.0003	0.0039	0.0009	0.052	0.39097	T	0.064	0.44905	T	.	.	.	.	.	.	0.909636	0.08562	N	0.943966	1	0.08975	N	.	.	.	1.86	0.24285	T	-1.82	0.42763	N	0.083	0.06059	-1.0585	0.12134	T	0.019	0.07800	T	10	0.007758647	0.00176	T	.	.	.	0.050	0.13987	.	.	0.368369118721	0.36443	0.3310671259986031	0.33019	0.739199071981	0.63150	0.388226807117	0.23420	T	.	.	.	-0.549016	0.00296	T	-0.546463	0.17666	T	0.0134818694337928	0.00246	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.07889	B	.;.;.;.	.;.;.;.	1.045824	0.14265	10.84	0.98054006013503525	0.37890	0.05461	0.11341	N	AEFBI	0.136440	0.25711	N	-0.573308336906302	0.19759	1.036612	-0.707290838073551	0.16779	0.8892278	2.09079022980424E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.29	1.18	0.20058	-1.160000	0.03258	-3.011000	0.03143	0.265000	0.18437	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.1897:0.0:0.8103:0.0	5.412	0.15655	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	2100.98	96	chr19	5843866	.	G	A	2100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=1448;ExcessHet=0.0000;FS=5.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.33;MQRankSum=-9.490e-01;QD=14.10;ReadPosRankSum=-7.810e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/1:71,78:149:99:2115,0,1707	20	0	1	0
chr19	6008177	6008177	A	C	exonic	RFX2	.	nonsynonymous SNV	RFX2:NM_134433:exon9:c.T988G:p.F330V	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.586	N	1.000	N	-1.265	N	0.04	T	-1.064	T	0.008	T	0.67	-0.781	0.729	0.556	-0.058	-0.718	4.790	0.321	.	0.0018	0.0169728	0.0151	0.0014	0.0058	0.1148	0.0068	0.0042	0.0056	0.0094	0.0048318	747	154602	rs79564339	0.0048	0.0047	0.0047	0.0049	0.0675	0.0047	0.0046	0.0654	0.0645	0.0003	0.0014	0.0014	0.0675	0.0009	0.0072	0.0028	0.0051	0.0082	0.0044	0.0044	0.0039	0.0049	0.0710	0.0041	0.0040	0.0651	0.0627	0.0009	0	0.0020	0.0003	0.0710	0.0004	0	0.0025	0.0052	0.0101	0.498	0.07797	T	0.56	0.09655	T	0.0	0.02946	B	0.0	0.01387	B	0.585983	0.11096	N	0.828584	1	0.08975	N	-1.445	0.00556	N	0.04	0.62051	T	1.38	0.00857	N	0.085	0.09772	-1.0644	0.10689	T	0.008	0.02842	T	10	0.0018848479	0.00025	T	.	.	.	0.321	0.64318	.	.	0.813627679482	0.81187	0.35551193779304247	0.35465	1.04129319823	0.75806	0.346013367176	0.17333	T	0.014962	0.12641	T	-0.394622	0.02511	T	-0.285363	0.46252	T	0.000298167129464406	0.00002	T	0.0150585	0.00109	T	0.056737933	0.11204	0.033177245	0.02169	0.056737933	0.11203	0.033177245	0.02169	2.306	0.00039	T	.	.	0.044	0.00061	B	.;.;.;.	.;.;.;.	-0.449036	0.02035	0.184	0.323510325679078	0.01870	0.00904	0.03537	N	AEFDBI	0.038321	0.05405	N	-1.37568874315526	0.02867	0.1272355	-1.30059675753161	0.04423	0.2085993	0.0154891403596548	0.12719	0.651	0.46895	0	0.588015	0.36545	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.07	0.556	0.16442	-0.681000	0.05292	-3.997000	0.02404	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.634000	0.32262	0.1402:0.5355:0.0:0.3243	4.790	0.12614	923	0.18507	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	598.98	42	chr19	6008177	.	A	C	598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.270e-01;DP=772;ExcessHet=0.0000;FS=3.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=-1.262e+00;SOR=1.190	GT:AD:DP:GQ:PL	0/1:35,26:61:99:613,0,882	20	0	1	0
chr19	7383105	7383105	G	A	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon10:c.G869A:p.R290Q,	.	.	492	1027	3	0	0	3	0.00145843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01877	0.0068	0	0.0319	0.1094	0	0.0011	0	0	0.0024126	373	154602	rs147885114	0.0026	0.0021	0.0027	0.0026	0.0895	0.0026	0.0025	0.0842	0.0820	0.0008	0.0895	0.0010	0.0647	4.63e-05	0.0007	0.0001	0.0052	0.0018	0.0097	0.0097	0.0080	0.0115	0.0736	0.0093	0.0091	0.0701	0.0686	0.0017	0	0.0736	0.0017	0.0434	0	0	0.0003	0.0057	0.0033	.	.	.	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0020921528	0.00030	T	.	.	.	.	.	.	.	0.178374595973	0.17440	.	.	.	.	.	.	.	.	.	.	-0.649328	0.00073	T	-0.655234	0.08592	T	.	.	.	0.739426	0.35812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12323	B	.	.	1.772788	0.22541	15.66	0.99178214782613017	0.54585	0.01684	0.05373	N	AEFBI	0.063734	0.12334	N	.	.	.	.	.	.	0.00752835391992406	0.11486	0.648878	0.45929	0	0.550933	0.16991	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	5.03	-2.84	0.05408	-0.168000	0.09914	0.129000	0.15021	0.676000	0.76740	0.044000	0.21163	0.000000	0.08366	0.335000	0.25317	0.4216:0.1358:0.4426:0.0	5.444	0.15824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2370.11	35	chr19	7383105	.	G	A	2370.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.04;DP=961;ExcessHet=0.1072;FS=0.555;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=1.11;SOR=0.768	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1098,0,1344	19	0	2	0
chr19	7535961	7535961	T	C	exonic	PNPLA6	.	nonsynonymous SNV	PNPLA6:NM_001166114:exon1:c.T173C:p.V58A	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive	.	0	1494	27	1	0	29	0.0096122	.	.	265656	Mucolipidosis_type_IV|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_39|Spastic_Paraplegia,_Recessive|not_specified	MONDO:MONDO:0009653,MedGen:C0238286,OMIM:252650,Orphanet:578|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0012787,MedGen:C2677586,OMIM:612020,Orphanet:139480|MedGen:CN239433|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.002	B	0.004	B	0.024	N	0.866	D	0.625	N	3.45	T	-0.962	T	0.001	T	0.178	4.146	21.4	4.39	2.086	2.859	6.867	0.064	.	.	0.0223642	0.0214	0.0012	0.0184	0.0784	0.0273	0.0020	0.0227	0.0518	0.008234	1273	154602	rs188353745	0.0040	0.0040	0.0030	0.0050	0.0419	0.0039	0.0039	0.0402	0.0395	0.0005	0.0033	3.914e-05	0.0419	0.0051	0.0039	0.0002	0.0057	0.0374	0.0041	0.0041	0.0028	0.0054	0.0476	0.0038	0.0037	0.0428	0.0409	0.0012	0	0.0011	0.0003	0.0476	0.0064	0.0034	0.0005	0.0038	0.0412	0.041	0.41915	D	0.202	0.55341	T	0.0	0.02946	B	0.003	0.08700	B	0.024356	0.26277	N	0.390328	0.785493	0.35469	D	.	.	.	3.45	0.06063	T	-2.06	0.47175	N	0.206	0.26475	-0.9622	0.38761	T	0.001	0.00287	T	10	0.0031965077	0.00054	T	.	.	.	0.064	0.18567	.	.	.	.	0.543598089825318	0.54285	2.43727951051	0.97311	0.535668492317	0.43835	T	0.034526	0.23358	T	-0.578816	0.00196	T	-0.569897	0.15458	T	0.012530299453851	0.00208	T	0.761924	0.39806	T	0.09636353	0.22696	0.07147646	0.15310	0.064566344	0.13711	0.07147646	0.15310	-3.953	0.23098	T	.	.	0.118	0.49353	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.899290	0.56784	23.8	0.99667704520882183	0.78394	0.72809	0.35626	D	ALL	0.322394	0.42489	N	-0.234745762556508	0.31717	1.781257	-0.0599080147459453	0.37065	2.165195	0.999999999722668	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	5.47	4.39	0.52211	1.698000	0.37413	4.916000	0.45998	0.661000	0.55757	0.991000	0.37257	1.000000	0.68203	0.987000	0.62547	0.0:0.1373:0.0:0.8627	6.867	0.23285	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	1357.98	34	chr19	7535961	.	T	C	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=847;ExcessHet=0.0000;FS=1.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-3.023e+00;SOR=0.914	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1372,0,1019	20	0	1	0
chr19	7642816	7642816	C	T	exonic	STXBP2	.	nonsynonymous SNV	STXBP2:NM_001127396:exon11:c.C944T:p.T315M	Hemophagocytic lymphohistiocytosis, familial, 5	.	2	1516	4	0	0	4	0.00131752	.	.	742213	Familial_hemophagocytic_lymphohistiocytosis_5|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.99	D	0.000	D	1.000	D	2.415	M	-1.05	T	0.155	D	0.528	D	0.58	3.372	17.37	4.54	2.097	3.065	14.818	0.350	0.0706060410447	.	0.00119808	0.0004	0	0	0.0050	0	1.516e-05	0	0.0001	0.0003687	57	154602	rs201293382	0.0001	0.0001	0.0001	0.0001	0.0031	0.0001	0.0001	0.0027	0.0025	0	0	0	0.0031	0	0.0002	1.799e-05	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0050	0.0001	0.0001	0.0035	0.0030	2.407e-05	0	0	0	0.0050	0	0	1.47e-05	0.0009	0	0.075	0.35537	T	0.065	0.44905	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.35	0.67516	M	-1.05	0.76690	T	-2.4	0.52776	N	0.688	0.70263	0.155	0.85142	D	0.528	0.82472	D	10	0.01176703	0.00256	T	0.070606	0.71046	D	0.350	0.67142	.	.	0.849127935969	0.84768	0.4335165578649366	0.43268	0.863688015342	0.69086	0.613290250301	0.54781	T	0.486375	0.81289	T	-0.241922	0.15105	T	-0.119328	0.61858	T	0.0840229331498682	0.10493	T	0.953805	0.82399	D	0.34793168	0.56905	0.3478157	0.60430	0.34793168	0.56905	0.3478157	0.60430	-5.213	0.41016	T	0.44900397897338507	0.53315	0.162	0.44784	B	.;.;.	.;.;.	5.073955	0.84639	28.4	0.99899088623744592	0.97124	0.88945	0.49125	D	AEFBCI	0.707809	0.66242	D	0.443623880439635	0.63842	4.625938	0.365540756076854	0.59450	4.122866	0.999999966562862	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.54	4.54	0.55220	6.036000	0.70590	7.397000	0.58550	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	14.818	0.69676	906	0.23090	.;.;.	.	.	.	.	.	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	851.98	35	chr19	7642816	.	C	T	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=791;ExcessHet=0.0000;FS=0.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.452;SOR=0.566	GT:AD:DP:GQ:PL	0/1:40,35:75:99:866,0,902	20	0	1	0
chr19	8888733	8888733	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40766G:p.D13589G,	.	.	394	1124	2	2	0	6	0.00266193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.968	D	.	.	.	.	2.395	M	1.09	T	-0.651	T	0.212	T	0.393	1.662	11.51	2.45	0.542	0.611	5.345	0.044	0.0236134229931	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796460354	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.833e-05	0.0030	1.791e-05	1.877e-05	9.259e-05	3.04e-06	1.14e-06	.	.	3.401e-05	0	9.259e-05	0	0	0	0	0	0	0	0.019	0.50132	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	1.09	0.39223	T	-1.59	0.38345	N	0.407	0.44761	-0.6514	0.62653	T	0.212	0.57321	T	8	0.20552856	0.36782	T	0.023613	0.46578	T	0.128	0.35103	.	.	0.146414634003	0.14194	0.19770301623938222	0.19687	.	.	0.299555659294	0.10335	T	.	.	.	-0.119382	0.33225	T	-0.409261	0.32310	T	0.348448395729065	0.26958	T	0.735226	0.35154	T	.	.	.	.	.	.	.	.	-7.689	0.58931	D	.	.	0.133	0.28664	B	.	.	1.835629	0.23322	15.97	0.9959769039303753	0.73983	0.08628	0.14530	N	AEFBI	0.055099	0.10074	N	-0.264095193715853	0.30545	1.704151	-0.390882496758417	0.25267	1.388531	2.4161992490188E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	2.45	0.28953	0.202000	0.17094	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.1363:0.0:0.8637	5.345	0.15307	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	512.83	332	chr19	8888733	.	T	C	512.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.43;DP=8357;ExcessHet=0.3300;FS=1.030;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=55.95;MQRankSum=-8.927e+00;QD=0.36;ReadPosRankSum=-4.902e+00;SOR=1.024	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:454,39:493:99:0|1:8888733_T_C:271,0,18860:8888733	16	0	3	2
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I,	.	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.984	D	0.964	D	.	.	.	.	0.49	N	2.21	T	-1.029	T	0.047	T	0.503	2.024	12.72	1.25	0.783	0.218	4.503	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	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	0.2778	8877.76	382	chr19	8888745	.	G	A,C	8877.76	.	AC=6,4;AF=0.167,0.111;AN=36;BaseQRankSum=-3.070e-01;DP=10156;ExcessHet=6.1002;FS=0.787;InbreedingCoeff=-0.3771;MLEAC=7,4;MLEAF=0.194,0.111;MQ=56.21;MQRankSum=-1.029e+01;QD=1.61;ReadPosRankSum=-1.286e+00;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:461,48,4:513:99:.:.:565,0,20000,1906,16317,17638	8	0	6	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P,	.	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.964	D	.	.	.	.	1.04	L	1.83	T	-0.975	T	0.078	T	0.685	2.193	13.29	1.26	0.083	0.610	2.783	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3176.11	382	chr19	8888746	.	T	G	3176.11	.	AC=7;AF=0.194;AN=36;BaseQRankSum=0.772;DP=10365;ExcessHet=2.5830;FS=7.108;InbreedingCoeff=-0.2519;MLEAC=8;MLEAF=0.222;MQ=55.81;MQRankSum=-1.024e+01;QD=0.81;ReadPosRankSum=-3.634e+00;SOR=1.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:490,48:538:99:0|1:8888733_T_C:541,0,20370:8888733	11	0	7	3
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I,	.	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.964	D	.	.	.	.	2.79	M	1.22	T	-0.601	T	0.206	T	0.319	0.402	6.184	0.756	0.311	2.938	8.036	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5532.55	398	chr19	8888763	.	G	A	5532.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.400e-01;DP=10822;ExcessHet=2.5830;FS=10.808;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=55.93;MQRankSum=-8.753e+00;QD=1.32;ReadPosRankSum=-9.860e-01;SOR=1.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:548,62:610:99:.:.:954,0,22763	14	0	7	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R,	.	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.918	P	0.884	P	.	.	.	.	2.455	M	1.54	T	-0.672	T	0.209	T	0.143	0.603	7.250	1.93	0.542	-0.004	4.795	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA 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	0.125	5178.17	410	chr19	8888772	.	T	C	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-7.350e-01;DP=11084;ExcessHet=1.1607;FS=20.381;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=55.59;MQRankSum=-8.634e+00;QD=1.74;ReadPosRankSum=0.031;SOR=2.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:569,82:651:99:0|1:8888771_G_A:1730,0,23645:8888771	15	0	5	1
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	0/1:288,87,70,0:469:99:.:.:3429,0,12196,749,9596,13012,4433,12108,12862,17380	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|1:297,84,70:451:99:0|1:8888826_T_*:2694,0,12202,650,9593,12910:8888826	1	0	19	0
chr19	8888876	8888876	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.T40623G:p.D13541E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.974	D	0.981	D	.	.	.	.	1.87	L	0.93	T	-0.870	T	0.138	T	0.106	1.808	12.01	1.34	0.110	-2.020	5.128	0.020	0.0184576829843	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	.	5.187e-06	0.0002	1.454e-06	9.063e-06	7.562e-05	2.16e-06	1.39e-06	2.908e-05	1.903e-05	0	0	0	0	0	0	1.894e-06	0	7.562e-05	6.798e-06	0.0010	1.324e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.43	0.14390	N	0.28	0.31702	-0.8696	0.50559	T	0.138	0.45451	T	8	0.102479935	0.18784	T	0.018458	0.40531	T	0.039	0.10176	.	.	0.258283824007	0.25425	0.03204328302232783	0.03152	.	.	0.32660266757	0.14420	T	.	.	.	-0.294743	0.09164	T	-0.661154	0.08189	T	0.18441400232506	0.19509	T	0.513049	0.16451	T	.	.	.	.	.	.	.	.	-7.397	0.56883	T	.	.	0.179	0.38959	B	.	.	0.370493	0.07427	4.059	0.97250488420208558	0.33038	0.04086	0.09547	N	AEFDBI	0.058217	0.10907	N	-0.810373198274173	0.13044	0.6399203	-0.987335908183308	0.10069	0.5048391	7.79589708737315E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	1.34	0.21018	-1.962000	0.01605	.	.	0.710000	0.85309	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7372:0.0:0.2628:0.0	5.128	0.14225	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1768.1	212	chr19	8888876	.	AT	A,CT	1768.1	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=4.52;DP=5111;ExcessHet=1.7912;FS=20.289;InbreedingCoeff=-0.1690;MLEAC=3,3;MLEAF=0.071,0.071;MQ=57.83;MQRankSum=-6.910e-01;QD=1.13;ReadPosRankSum=0.837;SOR=3.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:234,13,36:283:99:.:.:786,945,10712,0,9267,10011	15	0	3	0
chr19	8960112	8960112	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16658G:p.T5553S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.039	B	0.01	B	.	.	.	.	0.46	N	4.32	T	-0.975	T	0.006	T	0.073	0.140	4.751	0.516	0.246	-0.156	4.470	0.020	0.000557080928074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.829	0.03728	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.32	0.02387	T	-0.21	0.10308	N	0.075	0.04913	-0.9746	0.36213	T	0.006	0.02093	T	8	0.07552707	0.11684	T	5.57E-4	0.00221	T	0.020	0.03691	0.185	0.09388	0.0551355673512	0.04727	0.035792942912204175	0.03526	.	.	0.202649399638	0.00538	T	.	.	.	-0.349539	0.04756	T	-0.739865	0.03897	T	0.0618408806247755	0.07456	T	0.175282	0.01690	T	.	.	.	.	.	.	.	.	-6.16	0.47598	T	.	.	0.152	0.33687	B	.	.	-0.090120	0.03699	0.754	0.29992123822200517	0.01618	0.01671	0.05346	N	AEFBI	0.022470	0.01128	N	-1.07162818838596	0.07170	0.3322678	-1.15085085909645	0.06753	0.3261131	1.23712550126271E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.67	0.516	0.16217	0.166000	0.16400	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2126:0.0:0.7874:0.0	4.470	0.11128	905	0.23532	.	.	.	.	.	.	Uncertain significance	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	0.07895	538.84	122	chr19	8960112	.	G	C	538.84	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-6.244e+00;DP=3173;ExcessHet=0.3300;FS=139.984;InbreedingCoeff=-0.1054;MLEAC=3;MLEAF=0.079;MQ=59.98;MQRankSum=0.00;QD=0.86;ReadPosRankSum=1.27;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,46:199:99:0|1:8960112_G_C:205,0,4343:8960112	16	0	3	2
chr19	8963817	8963817	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C12953A:p.A4318D,	.	.	432	1065	25	0	0	25	0.0116009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.183	B	0.059	B	.	.	.	.	0.895	L	4.15	T	-0.919	T	0.004	T	0.181	0.510	6.763	-2.15	-0.420	-0.898	0.779	0.047	0.00106911805536	0.0020	0.00159744	0.0017	0.0001	0.0002	0	0.0003	0.0022	0.0011	0.0033	0.0015977	247	154602	rs117710966	0.0017	0.0017	0.0016	0.0018	0.0113	0.0017	0.0016	0.0091	0.0083	8.962e-05	0.0002	0.0115	0	0.0001	0.0113	0.0015	0.0023	0.0031	0.0012	0.0012	0.0014	0.0010	0.0029	0.0011	0.0010	0.0018	0.0014	7.225e-05	0	0.0004	0.0087	0	0.0005	0.0137	0.0017	0.0033	0.0029	0.09	0.31987	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.15	0.02815	T	-1.44	0.35399	N	0.066	0.03841	-0.9187	0.45729	T	0.004	0.01470	T	8	0.00501281	0.00108	T	0.001069	0.01239	T	0.047	0.12962	.	.	0.0611884634855	0.05136	0.04861217855754638	0.04804	.	.	0.200518429279	0.00472	T	.	.	.	-0.643579	0.00079	T	-0.69997	0.05828	T	0.0107415739613159	0.00152	T	0.264674	0.04299	T	.	.	.	.	.	.	.	.	-5.249	0.39435	T	.	.	0.214	0.44280	B	.	.	0.147463	0.05401	1.879	0.44896536660640829	0.03485	0.00748	0.03114	N	AEFBI	0.023943	0.01406	N	-1.06639664991113	0.07270	0.337195	-1.19638515492133	0.05970	0.2859846	1.75769450194521E-4	0.05786	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	1.98	-2.15	0.06705	-0.911000	0.04159	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.401000	0.26804	0.1644:0.2351:0.362:0.2386	0.779	0.00972	905	0.23532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2059.98	98	chr19	8963817	.	G	T	2059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.831e+00;DP=2179;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=-1.148e+00;SOR=0.602	GT:AD:DP:GQ:PL	0/1:61,71:132:99:2074,0,1760	20	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.205	M	-2.4	D	0.529	D	0.766	D	0.191	3.487	17.84	3.42	1.086	0.954	10.135	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	319.99	101	chr19	9854801	.	G	C	319.99	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.842e+00;DP=2362;ExcessHet=0.3300;FS=191.227;InbreedingCoeff=-0.1394;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=1.04;SOR=11.722	GT:AD:DP:GQ:PL	0/1:107,38:153:61:61,0,2101	16	0	3	2
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.447	B	0.21	B	0.603	N	0.969	N	0.345	N	.	.	-1.020	T	0.048	T	0.129	0.766	8.053	-3.02	-0.358	-0.269	8.877	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-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	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	207.46	82	chr19	10089677	.	G	C	207.46	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.463e+00;DP=2074;ExcessHet=1.7912;FS=272.777;InbreedingCoeff=-0.1689;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.605;SOR=12.318	GT:AD:DP:GQ:PL	0/1:76,21:99:24:24,0,1777	15	0	6	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	0/1:63,77,3:145:99:3000,0,2464,3043,2456,5578	2	0	2	0
chr19	11905266	11905266	G	C	exonic	ZNF69	.	nonsynonymous SNV	ZNF69:NM_001364730:exon4:c.G869C:p.C290S	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	2.61	T	-0.964	T	0.010	T	0.064	-2.849	0	-1.86	-0.874	-0.569	3.354	0.006	0.000267253689061	.	0.000199681	0.0004	0.0002	8.667e-05	0	0	0.0003	0	0.0018	0.0003622	56	154602	rs536718864	0.0004	0.0004	0.0003	0.0005	0.0019	0.0003	0.0003	0.0017	0.0016	8.961e-05	0.0002	0	0	5.617e-05	0.0014	0.0003	0.0005	0.0019	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0.0001	0	6.548e-05	0	0.0002	0	0	0.0003	0.0010	0.0023	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.94	0.01278	N	2.61	0.13095	T	2.85	0.00163	N	0.096	0.07673	-0.9635	0.38507	T	0.010	0.03673	T	6	0.009274304	0.00209	T	2.67E-4	0.00015	T	0.006	0.00375	0.325	0.30711	0.0482279557977	0.04254	.	.	.	.	.	.	.	0.004	0.03413	T	-0.745824	0.00019	T	-0.850577	0.00952	T	0.016342965439987	0.00404	T	8.38023E-5	0.00000	T	0.03189554	0.03113	0.07666819	0.17005	0.03189554	0.03113	0.07666819	0.17005	-1.26	0.01339	T	.	.	0.321	0.54587	B	.	.	-1.226807	0.00504	0.011	0.18481938656796554	0.00583	0.00001	0.00044	N	AEFBCI	.	.	.	-1.26343885944335	0.04125	0.1855768	-1.48704411482754	0.02450	0.1127106	1.77856831759023E-5	0.02871	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	0.931	-1.86	0.07340	-4.033000	0.00349	.	.	-0.750000	0.03597	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4377:0.218:0.3443:0.0	3.354	0.06743	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4056.98	42	chr19	11905266	.	G	C	4056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.235e+00;DP=1027;ExcessHet=0.0000;FS=0.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.943;QD=12.56;ReadPosRankSum=-2.024e+00;SOR=0.764	GT:AD:DP:GQ:PL	0/1:172,151:323:99:4071,0,4748	20	0	1	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|1:104,96,0:200:99:0|1:12430718_C_A:3697,0,4078,4010,4367,8377:12430718	5	4	10	0
chr19	12881105	12881105	G	C	exonic	DNASE2	.	nonsynonymous SNV	DNASE2:NM_001375:exon2:c.C134G:p.A45G,	.	.	409	1105	8	0	0	8	0.00360685	.	.	1158405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.653	P	0.226	B	0.496	N	1.000	N	0.96	L	2.52	T	-1.001	T	0.015	T	0.141	1.212	9.920	-1.36	-0.061	-0.053	3.613	0.017	0.0127536983497	0.0060	0.00199681	0.0050	0.0019	0.0037	0	0.0003	0.0073	0.0034	0.0028	0.0052393	810	154602	rs112348773	0.0076	0.0076	0.0077	0.0075	0.0116	0.0075	0.0074	0.0094	0.0087	0.0012	0.0052	0.0062	2.519e-05	0.0010	0.0116	0.0089	0.0073	0.0024	0.0051	0.0051	0.0057	0.0046	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0046	0.0052	0.0002	0.0005	0.0102	0.0087	0.0062	0.0033	0.372	0.11478	T	0.521	0.10714	T	0.026	0.19406	B	0.063	0.27082	B	0.495557	0.05061	N	1.366640	1	0.08975	N	0.35	0.11930	N	2.51	0.17596	T	-0.9	0.24244	N	0.129	0.12341	-1.0013	0.29545	T	0.015	0.06282	T	10	0.0043547153	0.00088	T	0.012754	0.31594	T	0.017	0.02790	.	.	0.148003135375	0.14442	0.2683441953285732	0.26747	0.560273300196	0.52559	0.304706543684	0.11106	T	0.07564	0.35226	T	-0.654668	0.00068	T	-0.70213	0.05711	T	0.00470155657053513	0.00050	T	0.464953	0.13651	T	0.03689833	0.04628	0.036251202	0.03036	0.03689833	0.04628	0.036251202	0.03036	-3.775	0.20432	T	.	.	0.090	0.15070	B	.;.	.;.	0.762654	0.11325	7.945	0.61141236624801887	0.06635	0.08445	0.14373	N	AEFDGBCIJ	0.088819	0.18006	N	-1.22303293139151	0.04668	0.2111439	-1.28691288597175	0.04607	0.2176825	0.999982893370361	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	5.12	-1.36	0.08610	-0.046000	0.11937	.	.	-1.707000	0.00749	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.2546:0.0:0.3464:0.3989	3.613	0.07612	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	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	1491.98	37	chr19	12881105	.	G	C	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.445;DP=839;ExcessHet=0.0000;FS=5.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.803e+00;SOR=0.893	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1506,0,1533	20	0	1	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,13,0,0,0,0,0:23:99:.:.:516,0,380,546,420,966,546,420,966,966,546,420,966,966,966,546,420,966,966,966,966,546,420,966,966,966,966,966	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,13,0,0,0,0,0:23:99:.:.:516,0,380,546,420,966,546,420,966,966,546,420,966,966,966,546,420,966,966,966,966,546,420,966,966,966,966,966	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,13,0,0,0,0,0:23:99:.:.:516,0,380,546,420,966,546,420,966,966,546,420,966,966,966,546,420,966,966,966,966,546,420,966,966,966,966,966	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,13,0,0,0,0,0:23:99:.:.:516,0,380,546,420,966,546,420,966,966,546,420,966,966,966,546,420,966,966,966,966,546,420,966,966,966,966,966	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,13,0,0,0,0,0:23:99:.:.:516,0,380,546,420,966,546,420,966,966,546,420,966,966,966,546,420,966,966,966,966,546,420,966,966,966,966,966	2	3	6	0
chr19	13285154	13285156	CTT	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127221:exon21:c.3607_3609del:p.K1203del	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	1510	12	0	0	12	0.00395778	.	.	192734	Developmental_and_epileptic_encephalopathy,_42|Episodic_ataxia_type_2|Inborn_genetic_diseases|not_provided|Migraine,_familial_hemiplegic,_1|Spinocerebellar_ataxia_type_6|not_specified	MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0020756,MedGen:C1832884,OMIM:141500,Orphanet:569|MONDO:MONDO:0008457,MedGen:C0752124,OMIM:183086,Orphanet:98758|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	.	0.0017	0	0.0008	0	0.0126	0.0013	0.0056	0.0012	0.0003074	8	26028	rs772989979	0.0011	0.0011	0.0011	0.0012	0.0019	0.0011	0.0011	0.0011	0.0010	8.961e-05	0.0012	0.0036	2.519e-05	0.0136	0.0019	0.0005	0.0014	0.0012	0.0020	0.0020	0.0014	0.0026	0.0016	0.0018	0.0018	0.0011	0.0009	4.814e-05	0	0.0016	0.0035	0	0.0177	0	0.0011	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1142.94	35	chr19	13285153	.	CCTT	C	1142.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=773;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.81;ReadPosRankSum=1.61;SOR=0.730	GT:AD:DP:GQ:PL	0/1:36,32:68:99:1157,0,1412	20	0	1	0
chr19	13795709	13795730	GCCGGGGCCGGGGCCGCGCGTG	-	exonic	ZSWIM4	.	frameshift deletion	ZSWIM4:NM_001367834:exon1:c.61_82del:p.A25Pfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370459779	1.257e-05	1.369e-05	9.17e-06	1.637e-05	1.358e-05	7.01e-06	5.4e-06	7.24e-06	5.72e-06	0	0	0	0	0	0	1.358e-05	2.428e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	490.94	16	chr19	13795708	.	TGCCGGGGCCGGGGCCGCGCGTG	T	490.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=447;ExcessHet=0.0000;FS=1.882;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.18;ReadPosRankSum=-3.720e-01;SOR=1.460	GT:AD:DP:GQ:PL	0/1:14,13:27:99:505,0,539	20	0	1	0
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	0/1:35,11,0:46:99:338,0,1444,450,1477,1927	9	4	7	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.008	B	0.01	B	.	.	1.000	N	0.345	N	0.95	T	-1.008	T	0.053	T	0.128	1.029	9.204	2.05	0.372	0.192	6.843	0.013	0.0052078798388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.557	0.09205	T	0.008	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.95	0.43279	T	-0.69	0.19720	N	0.059	0.03069	-1.0081	0.27510	T	0.053	0.22423	T	9	0.04972422	0.04603	T	0.005208	0.13279	T	0.013	0.01715	0.196	0.10839	0.139678290688	0.13603	0.027866872545468033	0.02736	.	.	0.337800443172	0.16108	T	0.001275	0.00758	T	-0.277433	0.10942	T	-0.63629	0.09943	T	0.0434918548633612	0.04328	T	0.461754	0.13398	T	0.07602174	0.17165	0.06639426	0.13595	0.07602174	0.17164	0.06639426	0.13595	-5.02	0.37056	T	.	.	0.138	0.30184	B	.	.	1.347247	0.17547	13.23	0.77371077808316469	0.11848	0.24576	0.22436	N	AEFDBCI	0.212789	0.33844	N	-1.05278905982485	0.07533	0.3502519	-1.02789764357686	0.09174	0.4549612	0.00144854144453499	0.08543	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.2	2.05	0.25860	0.412000	0.20852	0.452000	0.18532	0.549000	0.26987	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.0:0.779:0.0:0.221	6.843	0.23157	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1538	406.69	113	chr19	14053907	.	C	G	406.69	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-3.914e+00;DP=2349;ExcessHet=0.6776;FS=123.470;InbreedingCoeff=-0.2360;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=1.35;SOR=10.386	GT:AD:DP:GQ:PL	0/1:111,30:141:65:65,0,2549	9	0	4	8
chr19	14054465	14054465	C	T	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1009A:p.E337K	.	.	.	.	.	.	.	.	.	.	.	3367793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.645	P	0.041	B	0.943	N	1.000	N	1.525	L	1.33	T	-1.032	T	0.057	T	0.243	2.806	15.35	0.902	0.482	0.619	5.365	0.040	0.0121582618621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934749585	2.858e-06	4.789e-06	1.41e-06	4.347e-06	2.801e-05	6.7e-07	4.5e-07	3.1e-07	1.2e-07	0	2.801e-05	0	0	0	0	1.854e-06	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.032	0.53426	D	0.645	0.40526	P	0.041	0.23986	B	0.942550	0.08343	N	0.966446	1	0.08975	N	1.745	0.45235	L	1.33	0.35031	T	-0.78	0.21644	N	0.183	0.19861	-1.0323	0.19713	T	0.057	0.24130	T	10	0.08537054	0.14406	T	0.012158	0.30482	T	0.040	0.10527	0.34	0.33141	0.0138822411134	0.00435	0.08450603561029768	0.08384	.	.	0.336742579937	0.15950	T	0.004219	0.03630	T	-0.267972	0.11983	T	-0.500155	0.22331	T	0.201556980609894	0.20501	T	0.450355	0.12714	T	0.10036677	0.23698	0.06594599	0.13438	0.10036677	0.23698	0.06594599	0.13437	-5.821	0.44757	T	.	.	0.075	0.05404	B	.	.	2.503253	0.32318	19.01	0.99587417795279665	0.73395	0.09635	0.15347	N	AEFDBI	0.122055	0.23702	N	-0.643370712800649	0.17654	0.9102478	-0.76548689379133	0.15343	0.8064359	9.1932757469083E-4	0.08000	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.35	0.902	0.18422	0.975000	0.29046	0.011000	0.13441	0.549000	0.26987	0.012000	0.18695	0.000000	0.08366	0.009000	0.08673	0.0:0.5164:0.0:0.4836	5.365	0.15411	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2455.98	47	chr19	14054465	.	C	T	2455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.808e+00;DP=1383;ExcessHet=0.0000;FS=0.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.37;ReadPosRankSum=0.160;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,92:150:99:0|1:14054465_C_T:2470,0,2117:14054465	20	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4004.43	34	chr19	17286678	.	GTGTGTGTGTGTGTT	*,G	4004.43	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.870;DP=1077;ExcessHet=0.9430;FS=6.169;InbreedingCoeff=-0.0269;MLEAC=1,8;MLEAF=0.025,0.200;MQ=59.96;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.98;SOR=0.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:28,0,22:50:99:.:.:773,784,1748,0,986,970	12	0	0	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:28,0,22:50:99:.:.:773,784,1748,0,986,970	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,22,0,0:50:99:.:.:773,0,970,784,986,1748,784,986,1748,1748	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,22,0,0:50:99:.:.:773,0,970,784,986,1748,784,986,1748,1748	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	0|1:13,23,4:40:99:1|0:17286674_G_T:861,0,728,824,269,1367:17286674	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	1/2:1,27,7:35:99:.:.:2062,278,173,1193,0,1171	0	10	3	0
chr19	17301327	17301327	C	T	exonic	ABHD8	.	nonsynonymous SNV	ABHD8:NM_024527:exon2:c.G290A:p.R97Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.178	B	0.004	B	0.015	N	0.502	N	0	N	1.54	T	-1.038	T	0.027	T	0.125	2.495	14.30	2.93	1.202	3.335	5.145	0.039	0.0160837913239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755787357	2.748e-06	2.736e-06	4.102e-06	1.381e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.658e-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	0.584	0.05918	T	0.353	0.17320	T	0.178	0.28960	B	0.004	0.10090	B	0.014656	0.28470	N	0.338596	0.50231	0.31715	N	1.39	0.34934	L	1.54	0.30133	T	0.29	0.04161	N	0.057	0.02861	-1.0381	0.17893	T	0.027	0.11441	T	10	0.099657595	0.18098	T	0.016084	0.37157	T	0.039	0.10176	0.3	0.26683	0.151262610727	0.14761	0.32960333389032576	0.32873	0.895922734505	0.70456	0.771524071693	0.77652	T	0.011515	0.10265	T	-0.369731	0.03607	T	-0.596411	0.13115	T	0.233774500739766	0.22130	T	0.788921	0.42853	T	0.07203549	0.15993	0.03986828	0.04180	0.07203549	0.15993	0.03986828	0.04180	-4.128	0.25701	T	.	.	0.074	0.30211	B	.;.;.	.;.;.	3.187982	0.43297	21.7	0.99699571404694676	0.80522	0.40321	0.26411	N	AEFBI	0.064405	0.12505	N	-0.394201769013698	0.25674	1.395513	-0.203128643743349	0.31423	1.778245	0.998098936841708	0.36419	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	5.24	2.93	0.33092	3.347000	0.51915	1.655000	0.27867	0.469000	0.21855	0.998000	0.41325	0.918000	0.28264	0.979000	0.57723	0.0:0.4467:0.4228:0.1305	5.145	0.14309	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	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	1284.98	33	chr19	17301327	.	C	T	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=-2.890e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1299,0,1541	20	0	1	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	2|2:0,0,92:94:99:1|1:20624333_GCCACA_*:2638,2498,2908,213,296,0:20624333	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	2|2:0,0,92:94:99:1|1:20624333_GCCACA_*:2638,2498,2908,213,296,0:20624333	0	4	3	7
chr19	21405835	21405835	A	G	exonic	ZNF493	.	nonsynonymous SNV	ZNF493:NM_001076678:exon3:c.A232G:p.S78G	.	.	497	1020	5	0	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.003	B	.	.	1.000	N	-0.255	N	5.7	T	-0.946	T	0.008	T	0.131	-0.007	3.978	-2.27	-0.817	-0.709	2.256	0.014	0.00101507814385	0.0005	0.000199681	0.0006	0	0	0.0006	0	0.0008	0	0.0005	0.0005627	87	154602	rs139629271	0.0008	0.0008	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	0.0008	0	0.0001	0.0049	0.0003	0.0002	0.0005	0.0008	0.0010	0.0005	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0007	0.0006	4.864e-05	0	0.0003	0.0040	0.0012	0	0	0.0009	0.0010	0.0004	0.316	0.41915	T	0.103	0.49663	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	5.58	0.06445	T	-1.67	0.45042	N	0.132	0.14480	-0.9462	0.41615	T	0.008	0.02679	T	9	0.0076075494	0.00173	T	0.001015	0.01096	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.006762927482861741	0.00643	0.0172856146283	0.01676	0.355219602585	0.18688	T	.	.	.	-0.59519	0.00156	T	-0.730815	0.04291	T	0.00637228007168246	0.00071	T	0.259974	0.22664	T	.	.	.	.	.	.	.	.	0.927	0.00313	T	.	.	0.068	0.02960	B	.;.;.;.	.;.;.;.	0.512869	0.08815	5.595	0.64011227280780336	0.07377	0.00475	0.02270	N	AEFBI	0.026325	0.01955	N	-1.67893687762194	0.00919	0.03979802	-1.75961023268129	0.00897	0.04013182	2.38803004849035E-5	0.03498	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	1.13	-2.27	0.06458	-1.769000	0.01890	.	.	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.4509:0.3099:0.2392:0.0	2.256	0.03808	988	0.01987	Krueppel-associated box;.;Krueppel-associated box;.	.	.	.	.	.	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	1440.98	33	chr19	21405835	.	A	G	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=825;ExcessHet=0.0000;FS=6.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-7.290e-01;SOR=1.322	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1455,0,1298	20	0	1	0
chr19	21727323	21727323	G	T	exonic	ZNF100	.	stopgain	ZNF100:NM_001351672:exon3:c.C344A:p.S115X	.	.	425	1085	12	0	0	12	0.00549954	.	.	716327	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.446	10.78	-0.462	0.182	1.566	4.457	.	.	0.0092	0.00698882	0.0100	0.0025	0.0063	0.0104	0.0097	0.0131	0.0067	0.0044	0.0092625	1432	154602	rs138292237	0.0095	0.0095	0.0095	0.0095	0.0103	0.0094	0.0093	0.0102	0.0101	0.0016	0.0059	0.0087	0.0077	0.0094	0.0076	0.0103	0.0089	0.0053	0.0080	0.0081	0.0078	0.0083	0.0117	0.0077	0.0075	0.0110	0.0107	0.0017	0.0055	0.0100	0.0089	0.0058	0.0088	0.0204	0.0117	0.0076	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.047	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0213547	0.48661	T	0.206937	0.83504	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive;.;.	High|High;.;.	5.462916	0.91186	32	0.9507162513408991	0.26113	0.00022	0.00232	N	AEFBHCI	0.023336	0.01287	N	0.0380137738482882	0.43592	2.649114	-0.303777568215613	0.27977	1.556343	2.9317240254234E-4	0.06406	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.841	-0.462	0.11560	-0.004000	0.12813	.	.	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4667:0.0:0.5333:0.0	4.457	0.11068	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs138292237	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	1680.98	37	chr19	21727323	.	G	T	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.490e-01;DP=1110;ExcessHet=0.0000;FS=7.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.322e+00;SOR=0.457	GT:AD:DP:GQ:PL	0/1:75,66:141:99:1695,0,2013	20	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X,	.	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.340	40	4.72	2.174	8.944	17.685	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2050.0	174	chr19	32999679	.	G	A	2050.0	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.491e+00;DP=3802;ExcessHet=4.7172;FS=2.492;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=54.90;MQRankSum=-6.014e+00;QD=1.13;ReadPosRankSum=2.20;SOR=0.676	GT:AD:DP:GQ:PL	0/1:169,33:202:99:213,0,4876	12	0	9	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	0/1:92,21:113:35:.:.:35,0,2882	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	0/1:72,38:110:99:.:.:510,0,1794	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	0/1:83,34:117:99:.:.:354,0,1856	1	0	15	5
chr19	38433850	38433850	-	GAC	exonic	RYR1	.	nonframeshift insertion	RYR1:NM_000540:exon1:c.21_22insGAC:p.D8_E9insD	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	573044	RYR1-related_disorder	MedGen:CN239331	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2567.94	39	chr19	38433850	.	A	AGAC	2567.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.308;DP=910;ExcessHet=0.0000;FS=2.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=1.85;SOR=0.495	GT:AD:DP:GQ:PL	0/1:88,68:156:99:2582,0,3406	20	0	1	0
chr19	38737601	38737601	C	T	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon9:c.G1003A:p.V335M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.981	D	0.73	P	0.016	N	0.999	N	1.39	L	-2.5	D	-0.269	T	0.588	D	0.306	2.284	13.59	1.71	0.397	-0.130	3.768	0.339	0.194547653626	7.7e-05	.	6.55e-05	0	0	0	0	1.689e-05	0	0.0004	5.17e-05	8	154602	rs374179618	2.4e-05	2.394e-05	1.91e-05	2.895e-05	0.0002	1.743e-05	1.542e-05	5.408e-05	4.051e-05	2.989e-05	0	0	2.523e-05	0	0.0002	2.07e-05	0	0.0001	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	0.001	0.78490	D	0.004	0.74150	D	0.981	0.59675	D	0.73	0.55268	P	0.016209	0.28038	N	0.321849	0.99873	0.21949	N	1.445	0.36358	L	-2.5	0.89219	D	-0.28	0.11547	N	0.363	0.40465	-0.2689	0.75841	T	0.588	0.85242	D	10	0.18086585	0.33291	T	0.194548	0.86369	D	0.339	0.66106	.	.	0.442567846599	0.43878	0.2823802808921967	0.28151	0.32633439464	0.34783	0.608804345131	0.54146	T	0.063482	0.32186	T	-0.186606	0.22756	T	-0.226388	0.52119	T	0.311744451522827	0.25486	T	0.770723	0.40088	T	0.17920516	0.38980	0.17901447	0.40608	0.17920516	0.38980	0.17901447	0.40607	-6.344	0.49071	T	.	.	0.289	0.52688	B	.;.	.;.	3.286245	0.45050	22.1	0.99479065182231541	0.66795	0.08035	0.14011	N	AEFDBHCI	0.093430	0.18904	N	-0.159978768284743	0.34812	1.991822	-0.302694116851332	0.28012	1.558529	0.999956986528278	0.48110	0.582742	0.33608	0	0.541556	0.11502	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	3.9	1.71	0.23429	-0.038000	0.12096	-0.009000	0.13087	0.511000	0.23309	0.000000	0.06391	0.001000	0.17328	0.963000	0.52385	0.0:0.5559:0.204:0.2402	3.768	0.08154	675	0.60470	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, 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	1	0	0	0	0.02381	1193.98	34	chr19	38737601	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.880e-01;DP=846;ExcessHet=0.0000;FS=2.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.844;SOR=1.054	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1208,0,1110	20	0	1	0
chr19	39268683	39268683	C	G	exonic	IFNL2	.	nonsynonymous SNV	IFNL2:NM_172138:exon2:c.C17G:p.T6S,	.	.	394	1069	58	1	0	60	0.0272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.017	B	0.036	B	0.403	N	1.000	N	-0.345	N	2.55	T	-0.976	T	0.014	T	0.06	0.370	6.009	2.18	0.638	0.466	8.711	0.034	.	0.0060	0.0103834	0.0084	0.0015	0.0049	0.0001	0.0005	0.0081	0.0143	0.0235	0.0082405	1274	154602	rs142031126	0.0087	0.0087	0.0081	0.0092	0.0232	0.0086	0.0085	0.0223	0.0220	0.0013	0.0052	0.0127	2.519e-05	0.0011	0.0217	0.0084	0.0089	0.0232	0.0062	0.0062	0.0062	0.0062	0.0251	0.0059	0.0058	0.0214	0.0201	0.0016	0	0.0071	0.0095	0	0.0006	0.0170	0.0086	0.0071	0.0251	0.346	0.12469	T	0.272	0.22223	T	0.017	0.17573	B	0.036	0.22909	B	0.402935	0.04545	N	1.539810	1	0.08975	N	0.205	0.09354	N	2.55	0.13795	T	0.16	0.05217	N	0.09	0.06854	-0.9760	0.35904	T	0.014	0.05369	T	10	0.0037507713	0.00070	T	.	.	.	0.034	0.08419	0.152	0.05544	0.104622674875	0.10061	0.10945525285505907	0.10874	0.282123927823	0.30676	0.33310854435	0.15404	T	0.006617	0.06047	T	-0.721941	0.00027	T	-0.792209	0.02105	T	0.00170357977358575	0.00017	T	0.19678	0.02180	T	0.022907108	0.00988	0.02842597	0.01077	0.022907108	0.00988	0.02842597	0.01077	-3.021	0.10409	T	.	.	0.085	0.10111	B	.	.	-0.061201	0.03878	0.845	0.56440122075619437	0.05553	0.03824	0.09165	N	AEFDGI	0.022517	0.01135	N	-1.1275330983598	0.06157	0.282706	-1.1155589654113	0.07402	0.3599391	0.00107984509852559	0.08194	0.525926	0.21836	0	0.615948	0.52940	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.29	2.18	0.26813	0.602000	0.23833	.	.	-2.382000	0.00299	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.7638:0.2362:0.0	8.711	0.33543	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	2628.98	33	chr19	39268683	.	C	G	2628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=1079;ExcessHet=0.0000;FS=4.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.73;MQRankSum=-1.193e+00;QD=12.34;ReadPosRankSum=0.600;SOR=0.957	GT:AD:DP:GQ:PL	0/1:117,96:213:99:2643,0,3269	20	0	1	0
chr19	39658545	39658545	C	T	exonic	LGALS16	.	nonsynonymous SNV	LGALS16:NM_001190441:exon3:c.C178T:p.R60C,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.025	B	0.006	B	.	.	1.000	N	1.1	L	2.21	T	-0.996	T	0.028	T	0.203	1.191	9.842	-0.446	0.613	-1.662	4.482	0.019	0.000842952024572	.	.	0.0002	0	0	0.0002	0	0.0002	0	0.0005	0.0001488	23	154602	rs762993816	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0004	0	0.0002	0.0022	5.063e-05	0	0.0007	8.194e-05	0.0004	0.0005	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.244e-05	7.908e-05	5.994e-05	0	0	0.0001	0.0032	0	0	0	0.0001	0	0.0002	0.138	0.25873	T	0.075	0.42794	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.21	0.18414	T	-2.79	0.59059	D	0.191	0.20925	-0.9960	0.31028	T	0.028	0.12190	T	9	0.01776421	0.00381	T	8.43E-4	0.00713	T	0.019	0.03383	.	.	0.180583059064	0.17676	0.35469017885351345	0.35383	0.0335249413607	0.03509	0.322643339634	0.13821	T	.	.	.	-0.547094	0.00304	T	-0.699696	0.05842	T	0.0253987123596598	0.01326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34536	B	.	.	0.211877	0.05954	2.393	0.90011018743775539	0.19301	0.00156	0.00937	N	AEFGBI	0.042204	0.06517	N	-1.01259227854222	0.08342	0.390795	-1.10174852647663	0.07666	0.3738366	5.02840193183106E-5	0.03989	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.21	-0.446	0.11627	-1.737000	0.01943	.	.	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5764:0.4236:0.0	4.482	0.11184	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	1	0	0	0	0.02381	3099.98	36	chr19	39658545	.	C	T	3099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=972;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-4.560e-01;SOR=0.692	GT:AD:DP:GQ:PL	0/1:140,129:269:99:3114,0,3259	20	0	1	0
chr19	39660505	39660505	C	A	exonic	LGALS16	.	nonsynonymous SNV	LGALS16:NM_001190441:exon4:c.C414A:p.N138K,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.005	B	0.008	B	.	.	1.000	N	0	N	2.38	T	-0.983	T	0.020	T	0.041	-0.572	1.424	0.647	0.613	-1.224	.	0.013	0.000707563602261	.	0.00139776	0.0041	0.0006	0.0086	0	0	0.0025	0.0053	0.0066	0.0007684	20	26028	rs186797209	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0052	0.0050	0	0.0009	0.0024	0	0	0.0016	0.0002	0.0011	0.0056	0.0007	0.0007	0.0007	0.0007	0.0044	0.0006	0.0005	0.0029	0.0025	2.406e-05	0.0242	0.0007	0.0032	0	0	0.0102	0.0005	0.0005	0.0044	0.243	0.17526	T	0.49	0.11551	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15843	T	-0.02	0.07299	N	0.077	0.05162	-0.9831	0.34281	T	0.020	0.08407	T	8	0.0045831203	0.00095	T	7.08E-4	0.00454	T	0.013	0.01715	0.313	0.28774	0.0297737177859	0.01360	0.23125702305543835	0.23040	0.0323160249069	0.03370	0.454158842564	0.32512	T	.	.	.	-0.761551	0.00015	T	-0.864911	0.00792	T	0.00739835027676296	0.00085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32541	B	.	.	-0.668643	0.01395	0.081	0.36638375186401068	0.02368	0.00881	0.03477	N	AEFGBI	0.032810	0.03777	N	-1.23676114324858	0.04477	0.2021408	-1.30902499869823	0.04312	0.20314	0.00313003011755968	0.09942	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.647	0.647	0.16968	-2.155000	0.01371	.	.	-0.578000	0.04717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	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	2350.98	37	chr19	39660505	.	C	A	2350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.120e-01;DP=833;ExcessHet=0.0000;FS=4.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=2.85;SOR=0.429	GT:AD:DP:GQ:PL	0/1:56,85:141:99:2365,0,1400	20	0	1	0
chr19	41095022	41095022	C	T	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon8:c.C1225T:p.R409W,	.	.	1	1519	2	0	0	2	0.000657895	.	.	3420107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.687	P	0.464	U	1.000	N	0	N	-0.36	T	-0.890	T	0.168	T	0.198	1.345	10.42	-3.79	-0.259	-1.990	4.674	0.170	0.02431257254	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	2.59e-05	4	154602	rs765414081	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	2.987e-05	2.236e-05	0	5.038e-05	0	0.0003	0.0002	8.279e-05	1.159e-05	4.601e-05	4.597e-05	6.424e-05	2.692e-05	7.349e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	2.414e-05	0	6.548e-05	0	0	0	0	7.349e-05	0	0	0.005	0.63226	D	0.063	0.45110	T	0.986	0.61523	D	0.687	0.53665	P	0.464288	0.04888	U	1.286320	1	0.08975	N	0.655	0.16177	N	-0.36	0.68754	T	-2.19	0.49352	N	0.19	0.20793	-0.8898	0.48952	T	0.168	0.50729	T	10	0.18013203	0.33182	T	0.024313	0.47297	T	0.170	0.43303	.	.	0.625847943871	0.62280	0.34109126854996213	0.34022	0.107777585611	0.12158	0.193254008889	0.00288	T	0.17544	0.52502	T	-0.304993	0.08197	T	-0.489974	0.23393	T	0.191677868366241	0.19943	T	0.0270973	0.00165	T	0.22296707	0.44908	0.21588337	0.46195	0.22296707	0.44908	0.21588337	0.46194	-4.719	0.33634	T	.	.	0.139	0.30344	B	.	.	1.744287	0.22190	15.52	0.99381073545279586	0.61891	0.01965	0.05957	N	AEFDBI	0.075843	0.15242	N	-0.747749251023037	0.14695	0.7341707	-0.953802407175181	0.10835	0.5482938	1.64737139972807E-4	0.05721	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.24	-3.79	0.04037	-1.986000	0.01573	-20.000000	0.00162	-0.280000	0.06433	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2489:0.2041:0.4644:0.0826	4.674	0.12087	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	1	0	0	0	0.02381	2454.98	40	chr19	41095022	.	C	T	2454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=930;ExcessHet=0.0000;FS=1.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.500e-02;SOR=0.819	GT:AD:DP:GQ:PL	0/1:103,96:199:99:2469,0,2456	20	0	1	0
chr19	41316789	41316789	G	A	exonic	CCDC97	.	nonsynonymous SNV	CCDC97:NM_001346100:exon2:c.G257A:p.R86H	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.736	P	0.068	B	0.000	D	0.999	D	1.67	L	.	.	-0.977	T	0.106	T	0.293	2.688	14.95	4.61	2.114	3.396	9.994	0.108	0.00304516842019	.	.	8.771e-06	0	0	0	0	1.595e-05	0	0	6.5e-06	1	154602	rs767966086	5.31e-05	5.404e-05	4.651e-05	5.98e-05	0.0003	4.312e-05	3.985e-05	6.123e-05	4.776e-05	0	2.253e-05	0	0	1.899e-05	0.0003	6.437e-05	1.673e-05	1.163e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.178	0.22138	T	0.365	0.16717	T	0.736	0.42845	P	0.068	0.27651	B	0.000038	0.55875	D	0.066755	0.999047	0.45943	D	1.905	0.50856	L	.	.	.	-0.02	0.07299	N	0.308	0.34767	-0.9771	0.35660	T	0.106	0.38685	T	9	0.18756887	0.34272	T	0.003045	0.06547	T	0.108	0.30607	0.327	0.31034	0.417586769301	0.41374	0.3777044693589388	0.37685	0.271534841121	0.29673	0.748189985752	0.74179	T	0.033165	0.22797	T	-0.124326	0.32417	T	-0.340122	0.40331	T	0.378453604102234	0.28123	T	0.788521	0.42806	T	0.03629455	0.04437	0.04510454	0.05996	0.03629455	0.04436	0.04510454	0.05996	-5.196	0.38901	T	.	.	0.116	0.23535	B	.	.	3.371215	0.46582	22.3	0.9970266870806539	0.80729	0.84723	0.43810	D	AEFDGBHCI	.	.	.	0.170282902537363	0.49775	3.17425	0.24734192147948	0.52498	3.424293	0.999995986856196	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.61	4.61	0.56724	3.703000	0.54539	4.241000	0.42707	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0958:0.0:0.9042:0.0	9.994	0.41059	649	0.63102	.	.	.	.	.	.	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	2298.98	33	chr19	41316789	.	G	A	2298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.108e+00;DP=853;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=0.063;SOR=0.605	GT:AD:DP:GQ:PL	0/1:58,87:145:99:2313,0,1460	20	0	1	0
chr19	41625708	41625708	G	T	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362492:exon2:c.C317A:p.S106Y	.	.	381	1137	4	0	0	4	0.00175593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.68	H	4.28	T	-1.109	T	0.046	T	0.56	1.911	12.35	1.76	1.281	2.140	6.954	0.061	0.0013354418562	0.0008	0.000199681	0.0006	9.61e-05	0.0003	0	0	0.0011	0	0.0001	0.0006727	104	154602	rs146495927	0.0010	0.0010	0.0011	0.0009	0.0014	0.0010	0.0009	0.0012	0.0011	0.0003	0.0006	3.828e-05	2.519e-05	5.616e-05	0.0014	0.0012	0.0008	0.0001	0.0006	0.0006	0.0008	0.0005	0.0011	0.0005	0.0005	0.0009	0.0008	0.0003	0	0.0007	0	0	0	0	0.0011	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	3.12	0.87914	M	4.28	0.02487	T	-5.58	0.86450	D	0.342	0.41162	-1.1088	0.03174	T	0.046	0.19839	T	9	0.14590693	0.27669	T	0.001335	0.01885	T	0.061	0.17616	.	.	0.441221003447	0.43743	0.43194430508922627	0.43111	0.226368816379	0.25190	0.348661720753	0.17725	T	0.38321	0.74512	T	-0.41557	0.01827	T	-0.36876	0.37033	T	0.134758285113491	0.15815	T	.	.	.	0.72764176	0.79591	0.6130856	0.77486	0.72764176	0.79592	0.6130856	0.77487	-10.233	0.75294	D	.	.	0.725	0.76264	P	.;.	.;.	2.825009	0.37227	20.4	0.99023318340662492	0.50634	0.05592	0.11495	N	AEFDBI	0.041269	0.06252	N	0.0338912914374629	0.43403	2.633864	-0.306990503517268	0.27873	1.549757	0.99988676870225	0.44867	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.76	1.76	0.23776	2.419000	0.44325	0.506000	0.19038	0.337000	0.19705	0.975000	0.34726	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	6.954	0.23738	840	0.37365	Immunoglobulin V-set domain|Immunoglobulin-like domain;Immunoglobulin V-set domain|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	1	0	0	0	0.02381	2409.98	36	chr19	41625708	.	G	T	2409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=911;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-1.271e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/1:94,92:186:99:2424,0,2433	20	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox 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	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,20:87:99:.:.:149,0,1374	11	0	9	1
chr19	42310550	42310550	C	T	exonic	PRR19	.	nonsynonymous SNV	PRR19:NM_199285:exon3:c.C881T:p.T294M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.947	D	0.609	N	0.992	N	0.975	L	.	.	-0.904	T	0.182	T	0.376	3.964	20.3	5.04	2.781	3.573	14.102	0.140	0.00471149178169	.	.	3.299e-05	0	0	0	0	3.002e-05	0	0.0001	2.59e-05	4	154602	rs746643810	4.241e-05	4.241e-05	3.948e-05	4.538e-05	0.0003	3.376e-05	3.065e-05	6.092e-05	2.589e-05	0.0001	0	0	0	5.618e-05	0.0003	3.867e-05	8.279e-05	5.797e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	9.409e-05	0	1.47e-05	0	0	0.0	0.91255	D	0.009	0.66756	D	1.0	0.90584	D	0.947	0.68407	D	0.609475	0.10881	N	0.744121	0.992425	0.23884	N	1.585	0.39878	L	.	.	.	-4.18	0.75537	D	0.504	0.53620	-0.9044	0.47515	T	0.182	0.53026	T	9	0.3901474	0.54832	T	0.004711	0.11722	T	0.140	0.37593	.	.	0.191931220699	0.18833	0.308850495122396	0.30798	0.660252477466	0.58856	0.497677266598	0.38504	T	0.168505	0.51553	T	-0.155777	0.27412	T	-0.224871	0.52268	T	0.709237635135651	0.41163	D	0.710429	0.32156	T	0.37679186	0.59084	0.37822527	0.62904	0.37679186	0.59084	0.37822527	0.62904	-4.986	0.36687	T	.	.	0.217	0.44682	B	.;.	.;.	4.338521	0.66532	25.0	0.9991722349933132	0.98518	0.82630	0.41831	D	AEFBI	0.333550	0.43261	N	0.579838765324177	0.71917	5.724451	0.59396699877257	0.74506	6.148602	0.83300320697189	0.24727	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.664235	0.64389	0	.	.	5.04	5.04	0.67293	2.198000	0.42339	5.948000	0.51598	0.589000	0.31548	0.949000	0.33028	1.000000	0.68203	0.784000	0.37066	0.0:1.0:0.0:0.0	14.102	0.64587	595	0.68488	.;.	.	.	.	.	.	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	1765.98	35	chr19	42310550	.	C	T	1765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=842;ExcessHet=0.0000;FS=2.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-2.234e+00;SOR=0.488	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1780,0,2018	20	0	1	0
chr19	42521441	42521441	C	T	exonic	CEACAM1	.	nonsynonymous SNV	CEACAM1:NM_001024912:exon4:c.G784A:p.A262T	.	.	20	1501	1	0	0	1	0.000333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.376	B	0.404	B	.	.	1.000	N	1.01	L	2.74	T	-0.980	T	0.031	T	0.04	2.322	13.72	2.72	1.236	1.199	7.971	0.036	0.00920109502081	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs756037744	3.078e-05	3.078e-05	2.995e-05	3.163e-05	0.0002	2.347e-05	2.095e-05	2.743e-05	2.468e-05	0	2.236e-05	0	0	0	0.0002	3.687e-05	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	0.16198	T	0.53	0.11586	T	0.067	0.34240	B	0.286	0.43260	B	.	.	.	.	1	0.08975	N	0.545	0.13751	N	2.74	0.11730	T	-1.1	0.35194	N	0.095	0.17002	-0.9797	0.35071	T	0.031	0.13504	T	9	0.11846286	0.22397	T	0.009201	0.24177	T	0.036	0.09122	0.221	0.14371	0.28494636882	0.28116	0.13626798025442977	0.13550	0.481717173539	0.47150	0.255400717258	0.04358	T	0.069952	0.33840	T	-0.412943	0.01901	T	-0.748075	0.03561	T	0.269616395235062	0.23731	T	0.381762	0.23413	T	0.031045312	0.02873	0.04845239	0.07201	0.031045312	0.02873	0.04845239	0.07200	-7.541	0.57968	D	.	.	0.101	0.20625	B	.;.;.;.;.;.	.;.;.;.;.;.	1.569146	0.20088	14.58	0.97977905431149037	0.37305	0.06263	0.12254	N	AEFBI	0.117369	0.22995	N	-0.762406332494467	0.14298	0.7111122	-0.782291711428307	0.14929	0.7826347	0.0146238421587782	0.12619	0.744818	0.98587	0	0.732433	0.95613	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.14	2.72	0.31179	1.708000	0.37518	-0.707000	0.07768	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.012000	0.09680	0.0:0.7942:0.0:0.2058	7.971	0.29291	436	0.80373	.;Immunoglobulin-like domain|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	2182.98	34	chr19	42521441	.	C	T	2182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.385;DP=898;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.537;SOR=0.651	GT:AD:DP:GQ:PL	0/1:116,84:200:99:2197,0,3023	20	0	1	0
chr19	43915003	43915003	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T433C:p.F145L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.264	N	1.000	N	1.805	L	1.01	T	-0.988	T	0.090	T	0.098	0.299	5.620	1.35	0.593	-0.060	5.295	0.038	0.00769626429319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384583909	6.881e-07	1.368e-06	0	1.385e-06	2.274e-05	0	0	.	.	0	2.274e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.263507	0.15267	N	0.483859	1	0.08975	N	2.275	0.64647	M	1.01	0.41058	T	-0.84	0.22944	N	0.164	0.18376	-0.9877	0.33175	T	0.090	0.34573	T	10	0.094732106	0.16866	T	0.007696	0.20431	T	0.038	0.09825	0.402	0.43245	0.235664433957	0.23186	0.12031759696109624	0.11958	0.213602836398	0.23874	0.334945380688	0.15680	T	0.035438	0.23719	T	-0.368212	0.03685	T	-0.683822	0.06753	T	0.0350863611179524	0.02822	T	0.0770923	0.09368	T	0.05302415	0.09975	0.03890542	0.03862	0.05302415	0.09975	0.03890542	0.03862	-3.275	0.13417	T	.	.	0.333	0.68334	B	.;.;.;.	.;.;.;.	0.469238	0.08386	5.142	0.45021709716704789	0.03503	0.08434	0.14363	N	AEFBI	0.031285	0.03311	N	-1.04982718632548	0.07591	0.3531383	-1.11553569626414	0.07403	0.3599641	0.00212158374293667	0.09174	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	1.35	0.21078	0.579000	0.23490	.	.	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5556:0.3441:0.1003:0.0	5.295	0.15059	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	306.68	44	chr19	43915003	.	A	G	306.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.810e+00;DP=1228;ExcessHet=0.3300;FS=119.091;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=1.28;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,20:112:99:0|1:43914999_C_T:169,0,2275:43914999	18	0	3	0
chr19	44274298	44274298	-	CAC	exonic	ZNF233	.	nonframeshift insertion	ZNF233:NM_001207005:exon5:c.1638_1639insCAC:p.S546_Q547insH	.	.	417	1086	18	1	0	20	0.00912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0005	9.612e-05	0.0003	0	0	0.0003	0.0011	0.0017	0.0003558	55	154602	rs747608327	0.0004	0.0004	0.0003	0.0004	0.0045	0.0004	0.0003	0.0032	0.0027	2.987e-05	0.0004	3.826e-05	0	0	0.0045	0.0003	0.0005	0.0021	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	2.418e-05	0	0.0007	0	0	0	0	0.0002	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2263.94	39	chr19	44274298	.	T	TCAC	2263.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.197;DP=1127;ExcessHet=0.0000;FS=9.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=1.35;SOR=0.868	GT:AD:DP:GQ:PL	0/1:94,61:155:99:2278,0,3756	20	0	1	0
chr19	45287554	45287554	G	A	exonic	MARK4	.	nonsynonymous SNV	MARK4:NM_001199867:exon13:c.G1384A:p.A462T	.	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.876	P	0.063	B	0.088	N	1.000	N	1.04	L	1.15	T	-1.009	T	0.095	T	0.038	0.277	5.500	1.81	0.333	2.834	8.414	0.026	0.0215826893028	.	0.000199681	0.0006	0	0	0	0	0.0002	0.0030	0.0032	0.0002587	40	154602	rs549577494	0.0001	0.0001	8.27e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0012	0	4.761e-05	0	0	1.939e-05	0.0005	4.186e-05	0.0002	0.0014	8.533e-05	8.529e-05	6.422e-05	0.0001	0.0017	4.952e-05	3.959e-05	0.0008	0.0006	0	0	0	0	0	0	0	7.349e-05	0	0.0017	0.665	0.04629	T	0.453	0.23638	T	0.0	0.48154	B	0.0	0.27082	B	0.087644	0.20522	N	0.505671	1	0.08975	N	0.895	0.22405	L	1.15	0.38236	T	-0.51	0.19297	N	0.088	0.06587	-1.0088	0.27292	T	0.095	0.35791	T	10	0.011233509	0.00246	T	0.021583	0.44367	T	0.051	0.14325	0.236	0.16608	0.516355890919	0.51278	0.1232806278203595	0.12254	0.637893461377	0.57527	0.426764369011	0.28766	T	0.054481	0.29737	T	-0.606331	0.00133	T	-0.668356	0.07714	T	0.0246440622415081	0.01226	T	0.744226	0.38939	T	0.019811643	0.00520	0.03661308	0.03143	0.019811643	0.00520	0.03661308	0.03142	-3.563	0.17324	T	.	.	0.064	0.02038	B	.;.	.;.	1.853502	0.23545	16.06	0.96802004682119969	0.31154	0.38019	0.25893	N	AEFDBI	0.076308	0.15347	N	-0.354164380935558	0.27118	1.485372	-0.443780046493766	0.23726	1.295369	8.05715065675489E-4	0.07842	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.06	1.81	0.24139	2.973000	0.48956	7.420000	0.58709	0.614000	0.49286	0.693000	0.28559	0.999000	0.35428	0.087000	0.17632	0.2569:0.0:0.7431:0.0	8.414	0.31821	917	0.20147	.;.	.	.	.	.	.	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	1113.98	37	chr19	45287554	.	G	A	1113.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=785;ExcessHet=0.0000;FS=0.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-1.239e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/1:46,40:86:99:1128,0,1088	20	0	1	0
chr19	47143522	47143522	G	A	exonic	SAE1	.	nonsynonymous SNV	SAE1:NM_001145713:exon2:c.G127A:p.G43S	.	.	427	1085	10	0	0	10	0.00458716	.	.	2818468	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.33	M	-4.26	D	1.086	D	0.945	D	0.991	5.736	36	5.68	2.691	9.141	18.562	0.957	0.218217212353	.	0.00139776	0.0011	0	0.0003	0.0001	0	7.492e-05	0.0055	0.0071	0.0009314	144	154602	rs199801330	0.0006	0.0006	0.0003	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	5.974e-05	8.944e-05	0	5.038e-05	0	0.0014	7.374e-05	0.0008	0.0078	0.0002	0.0002	0.0001	0.0003	0.0069	0.0002	0.0002	0.0050	0.0044	2.41e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0069	0.009	0.91255	D	0.056	0.92824	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	-4.26	0.97078	D	-5.8	0.88148	D	0.979	0.99337	1.086	0.99097	D	0.945	0.98184	D	10	0.044219077	0.03355	T	0.218217	0.87647	D	0.957	0.99284	0.82	0.93328	0.973409713705	0.97312	0.7918974565808234	0.79141	0.719350977625	0.62131	0.856860399246	0.90645	D	0.374441	0.75527	T	0.226452	0.76387	D	0.557634	0.95802	D	0.122462739664876	0.14668	T	0.886711	0.66351	D	0.9529124	0.96562	0.929928	0.97090	0.9529124	0.96562	0.929928	0.97090	-7.447	0.57961	T	.	.	0.704	0.74752	P	.;.;.;.;.	.;.;.;.;.	5.404553	0.90492	31	0.9989377473112403	0.96742	0.99742	0.99125	D	AEFDBIJ	0.948652	0.96050	D	0.921039765276372	0.92751	11.60731	0.902131212895817	0.95664	13.84331	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	9.456000	0.96789	9.456000	0.80855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.562	0.91058	882	0.29131	.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold;.	.	.	.	.	.	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	1024.98	36	chr19	47143522	.	G	A	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=800;ExcessHet=0.0000;FS=8.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-3.106e+00;SOR=0.264	GT:AD:DP:GQ:PL	0/1:59,41:100:99:1039,0,1383	20	0	1	0
chr19	47780906	47780906	C	T	exonic	SELENOW	.	unknown	UNKNOWN,	.	.	421	1091	9	1	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.919	N	1.000	N	.	.	0.94	T	-1.038	T	0.001	T	0.172	1.331	10.37	-3.89	-0.647	-0.116	11.183	0.037	.	0.0002	0.0253594	0.0100	0.0006	0.0007	0.1208	0.0019	0.0010	0.0060	0.0031	0.0090296	1396	154602	rs80333860	0.0042	0.0042	0.0043	0.0041	0.1184	0.0041	0.0041	0.1156	0.1144	0.0004	0.0004	0.0015	0.1184	0.0018	0.0021	0.0005	0.0072	0.0036	0.0048	0.0049	0.0042	0.0055	0.1215	0.0045	0.0044	0.1135	0.1104	0.0004	0	0.0009	0.0012	0.1215	0.0008	0	0.0006	0.0052	0.0050	0.054	0.38633	T	0.059	0.46182	T	0.0	0.02946	B	0.0	0.01387	B	0.918827	0.08501	N	0.961651	0.999999	0.08975	N	.	.	.	0.94	0.43672	T	-0.18	0.09796	N	0.278	0.32591	-1.0375	0.18078	T	0.001	0.00438	T	9	0.0016022921	0.00019	T	.	.	.	0.037	0.09474	.	.	0.134241683229	0.13084	.	.	0.0979953761928	0.11061	0.443825602531	0.31099	T	0.015291	0.14613	T	-0.650431	0.00072	T	-0.599954	0.12816	T	0.0146846796753103	0.00305	T	0.178882	0.01767	T	0.04818381	0.08357	0.05038276	0.07897	0.04818381	0.08356	0.05038276	0.07896	.	.	.	.	.	0.056	0.01367	B	.;.;.;.;.	.;.;.;.;.	1.235350	0.16305	12.45	0.95245460720698705	0.26495	0.03834	0.09181	N	AEFDBCI	0.175896	0.30309	N	-1.07627306900191	0.07082	0.3279762	-1.13093928832153	0.07115	0.344888	0.999903079962271	0.45458	0.744818	0.98587	0	0.732433	0.95613	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.27	-3.89	0.03916	-0.055000	0.11763	-0.328000	0.09912	-1.689000	0.00774	0.269000	0.25036	0.000000	0.08366	0.031000	0.13245	0.0:0.7264:0.0:0.2736	11.183	0.47869	906	0.23090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5976.68	139	chr19	47780906	.	C	T	5976.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.444;DP=1236;ExcessHet=0.3300;FS=3.213;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-4.330e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2405,0,2074	18	0	3	0
chr19	48296984	48296984	G	A	exonic	CCDC114	.	nonsynonymous SNV	CCDC114:NM_144577:exon14:c.C2005T:p.R669W	Ciliary dyskinesia, primary, 20, Autosomal recessive	.	411	1107	4	0	0	4	0.00180343	.	.	1674749	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.55	P	.	.	1.000	N	0.805	L	1.52	T	-1.048	T	0.050	T	0.273	3.615	18.40	-1.75	-0.199	0.056	2.589	0.098	0.0154941551991	.	0.000199681	3.612e-05	0.0003	0	0	0	1.614e-05	0	0	3.88e-05	6	154602	rs200369693	2.83e-05	2.942e-05	2.745e-05	2.917e-05	0.0002	2.106e-05	1.895e-05	4.098e-05	2.693e-05	0.0001	2.273e-05	0	0	0	0.0002	2.349e-05	3.345e-05	8.232e-05	4.596e-05	5.249e-05	1.285e-05	8.056e-05	0.0001	2.108e-05	1.526e-05	2.259e-05	1.03e-05	7.216e-05	0	0.0001	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.55	0.49239	P	.	.	.	.	0.999979	0.18612	N	0.895	0.22405	L	1.52	0.30669	T	-2.23	0.50012	N	0.196	0.21580	-1.0482	0.14903	T	0.050	0.21417	T	9	0.074353665	0.11354	T	0.015494	0.36250	T	0.098	0.28162	.	.	0.495970961353	0.49232	0.1121170974195753	0.11140	0.50002320279	0.48426	0.225140228868	0.01628	T	0.004179	0.03591	T	-0.38314	0.02976	T	-0.508696	0.21450	T	0.0882969885034126	0.11013	T	0.60444	0.22695	T	0.078992866	0.18022	0.10450226	0.25100	0.078992866	0.18022	0.10450226	0.25100	-5.602	0.42810	T	.	.	0.104	0.18869	B	.	.	2.878156	0.38083	20.6	0.99824626746941181	0.90677	0.04767	0.10476	N	AEFDBI	0.139365	0.26094	N	-0.528184109127093	0.21173	1.121711	-0.734428723475018	0.16106	0.8504197	0.0184686430562513	0.13062	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	3.51	-1.75	0.07598	-0.019000	0.12487	-0.758000	0.07548	0.676000	0.76740	0.010000	0.18352	0.000000	0.08366	0.379000	0.26312	0.1011:0.1515:0.4172:0.3302	2.589	0.04543	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	605.98	31	chr19	48296984	.	G	A	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=659;ExcessHet=0.0000;FS=3.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-2.164e+00;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,19:39:99:0|1:48296961_T_C:620,0,707:48296961	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	0/1:29,34,0,0:63:99:.:.:1233,0,994,1320,1098,2417,1320,1098,2417,2417	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	0/1:29,34,0,0:63:99:.:.:1233,0,994,1320,1098,2417,1320,1098,2417,2417	5	4	8	0
chr19	50908380	50908380	T	G	exonic	KLK4	.	nonsynonymous SNV	KLK4:NM_001302961:exon4:c.A306C:p.Q102H	Amelogenesis imperfecta, type IIA1, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001164	18	154602	rs2569527	0.0042	0.0042	0.0042	0.0043	0.0047	0.0041	0.0041	0.0046	0.0046	0.0006	0.0007	0.0005	5.038e-05	0.0046	0.0005	0.0047	0.0039	0.0045	0.0031	0.0031	0.0030	0.0032	0.0052	0.0028	0.0027	0.0048	0.0046	0.0007	0	0.0020	0.0006	0	0.0032	0	0.0052	0.0005	0.0031	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.17002	.	.	.	.	.	.	.	0.03328696	0.01501	T	.	.	.	.	.	.	.	.	.	0.34543216026245166	0.34457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0419958	0.00293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.39782	B	.	.	0.770394	0.11402	8.015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.880000	0.04291	-3.673000	0.02615	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	1884.98	35	chr19	50908380	.	T	G	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.869e+00;DP=874;ExcessHet=0.0000;FS=1.253;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-5.200e-02;SOR=0.577	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1899,0,2433	20	0	1	0
chr19	52157386	52157386	C	G	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.G297C:p.E99D,	.	.	485	1021	15	1	0	17	0.00825644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.002	B	.	.	1.000	N	1.525	L	3.07	T	-0.950	T	0.017	T	0.072	-0.379	2.216	-0.327	-0.154	-1.469	4.669	0.002	.	0.0009	0.00359425	0.0031	0	0.0008	0	0	0.0016	0.0011	0.0154	0.0026455	409	154602	rs145570001	0.0022	0.0022	0.0017	0.0026	0.0151	0.0021	0.0021	0.0144	0.0141	3.016e-05	0.0008	0.0024	2.521e-05	9.376e-05	0.0136	0.0014	0.0032	0.0151	0.0016	0.0016	0.0013	0.0018	0.0141	0.0014	0.0013	0.0114	0.0104	0.0003	0	0.0018	0.0032	0	9.443e-05	0.0068	0.0016	0.0038	0.0141	0.135	0.26192	T	0.261	0.23845	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	3.07	0.08547	T	-1.83	0.42957	N	0.051	0.02272	-0.9502	0.40938	T	0.017	0.07187	T	9	0.00558424	0.00123	T	.	.	.	0.002	0.00045	0.309	0.28128	0.112648838833	0.10856	0.02930728143722668	0.02879	0.117695942105	0.13256	0.238464802504	0.02653	T	0.017918	0.14537	T	-0.715691	0.00029	T	-0.78914	0.02188	T	0.00959972323754589	0.00125	T	0.207779	0.02478	T	0.06644925	0.14300	0.0691237	0.14524	0.06644925	0.14300	0.0691237	0.14524	-5.793	0.44513	T	.	.	0.153	0.33755	B	.;.;.	.;.;.	-0.639556	0.01467	0.090	0.75706972620945068	0.11179	0.00895	0.03516	N	AEFBI	0.037892	0.05280	N	-1.33780589538427	0.03253	0.1449924	-1.44252599195401	0.02838	0.1313133	2.84645603986532E-4	0.06355	0.554377	0.28877	0	0.588066	0.40923	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	2.06	-0.327	0.12064	-1.085000	0.03500	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.0:0.6552:0.0:0.3448	4.669	0.12065	988	0.01987	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2016.98	33	chr19	52157386	.	C	G	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.135;DP=1249;ExcessHet=0.0000;FS=6.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=-6.130e-01;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,54:131:99:0|1:52157386_C_G:2031,0,3067:52157386	20	0	1	0
chr19	52157391	52157391	G	C	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.C292G:p.L98V,	.	.	482	1024	15	1	0	17	0.00823245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.001	B	.	.	1.000	N	0.345	N	3.48	T	-0.903	T	0.009	T	0.08	-1.704	0.011	-0.867	-0.318	0.197	4.379	0.007	.	0.0003	0.00359425	0.0031	0	0.0008	0	0	0.0016	0.0011	0.0155	0.0025938	401	154602	rs191015765	0.0022	0.0022	0.0017	0.0026	0.0151	0.0021	0.0021	0.0144	0.0141	3.016e-05	0.0008	0.0024	2.521e-05	9.377e-05	0.0138	0.0014	0.0032	0.0151	0.0016	0.0016	0.0013	0.0019	0.0145	0.0014	0.0013	0.0118	0.0108	0.0003	0	0.0018	0.0032	0	9.468e-05	0.0068	0.0016	0.0038	0.0145	0.291	0.14945	T	0.562	0.10209	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.83	0.20963	L	3.48	0.05130	T	-1.15	0.29525	N	0.034	0.00942	-0.9029	0.47684	T	0.009	0.03054	T	9	0.0035451353	0.00064	T	.	.	.	0.007	0.00512	.	.	0.0806252709748	0.07271	0.01147061069828151	0.01107	0.13144590678	0.14824	0.217547774315	0.01173	T	0.008022	0.07382	T	-0.729608	0.00024	T	-0.809132	0.01685	T	0.0176793464924465	0.00499	T	0.070293	0.03672	T	0.04412993	0.07000	0.04817994	0.07102	0.04412993	0.07000	0.04817994	0.07101	-5.939	0.45766	T	.	.	0.088	0.14108	B	.;.;.	.;.;.	-0.495976	0.01879	0.154	0.11149848818259607	0.00160	0.01196	0.04270	N	AEFBI	0.039991	0.05887	N	-1.4666173288868	0.02089	0.09190551	-1.53585476662311	0.02075	0.09488594	3.16373359707655E-4	0.06498	0.554377	0.28877	0	0.588066	0.40923	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	1.5	-0.867	0.10115	-0.145000	0.10248	.	.	-2.020000	0.00436	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.5069:0.0:0.4931:0.0	4.379	0.10716	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	2102.98	33	chr19	52157391	.	G	C	2102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=1253;ExcessHet=0.0000;FS=3.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=-1.167e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,56:134:99:0|1:52157386_C_G:2117,0,3103:52157386	20	0	1	0
chr19	52157392	52157392	G	T	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.C291A:p.D97E,	.	.	482	1024	15	1	0	17	0.00823245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	.	.	1.000	N	0.805	L	3.51	T	-0.913	T	0.009	T	0.056	-0.332	2.426	-3.0	-0.707	-1.848	4.549	0.014	.	0.0003	0.00359425	0.0031	0	0.0008	0	0	0.0016	0.0011	0.0155	0.0025938	401	154602	rs182900557	0.0022	0.0023	0.0018	0.0026	0.0150	0.0021	0.0021	0.0144	0.0141	6.027e-05	0.0008	0.0024	2.521e-05	9.375e-05	0.0138	0.0014	0.0032	0.0150	0.0016	0.0016	0.0013	0.0019	0.0145	0.0014	0.0014	0.0118	0.0108	0.0003	0	0.0018	0.0032	0	9.464e-05	0.0068	0.0016	0.0038	0.0145	0.353	0.12187	T	0.654	0.07059	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.26	0.31868	L	3.51	0.04959	T	-1.38	0.34198	N	0.021	0.00339	-0.9135	0.46415	T	0.009	0.03227	T	9	0.0051076114	0.00111	T	.	.	.	0.014	0.01968	0.228	0.15406	0.0666544352282	0.05500	0.019157505738458917	0.01869	0.122661492736	0.13820	0.245775401592	0.03336	T	0.005387	0.04841	T	-0.723785	0.00026	T	-0.800767	0.01883	T	0.0150574985605367	0.00325	T	0.0336966	0.00299	T	0.073930345	0.16556	0.056898292	0.10247	0.073930345	0.16555	0.056898292	0.10247	-3.579	0.17553	T	.	.	0.165	0.40424	B	.;.;.	.;.;.	-0.273973	0.02733	0.362	0.48874064811319756	0.04115	0.00838	0.03362	N	AEFBI	0.028443	0.02507	N	-1.46487105152616	0.02103	0.09249269	-1.57855975867208	0.01787	0.08132193	6.75590802955172E-4	0.07599	0.554377	0.28877	0	0.588066	0.40923	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	1.5	-3.0	0.05148	-1.214000	0.03097	.	.	0.499000	0.22661	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.4565:0.3123:0.2312	4.549	0.11504	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	2105.98	33	chr19	52157392	.	G	T	2105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=1253;ExcessHet=0.0000;FS=2.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-1.212e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,56:133:99:0|1:52157386_C_G:2120,0,3065:52157386	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|2:22,0,29:51:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:1144,1218,2151,0,933,846:52384817	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|3:23,0,0,18:41:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:686,756,1718,756,1718,1718,0,962,962,908:52384817	13	0	3	0
chr19	52416705	52416705	C	G	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.C1853G:p.S618C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.99	D	.	.	1.000	N	2.665	M	1.4	T	-0.918	T	0.220	T	0.338	1.459	10.82	1.58	0.842	-0.188	10.080	0.088	0.00386301460251	.	.	8.287e-06	0	0	0	0	0	0	6.209e-05	6.5e-06	1	154602	rs773475109	6.176e-06	6.156e-06	4.091e-06	8.287e-06	1.161e-05	2.91e-06	2.11e-06	3.11e-06	2.24e-06	0	0	0	0	0	0	7.219e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.99	0.78936	D	.	.	.	.	1	0.08975	N	2.785	0.81254	M	1.4	0.33630	T	-3.67	0.70191	D	0.172	0.18376	-0.9178	0.45851	T	0.220	0.58240	T	9	0.35370988	0.52171	T	0.003863	0.09055	T	0.088	0.25558	0.642	0.77903	0.619887034416	0.61680	0.00565427658235865	0.00535	0.0517145277918	0.05692	0.301737159491	0.10659	T	0.046961	0.27581	T	-0.220575	0.17915	T	-0.453987	0.27258	T	0.980847477912903	0.73580	D	0.437256	0.12012	T	0.24328342	0.47265	0.22999895	0.48089	0.24328342	0.47265	0.22999895	0.48088	-8.013	0.61159	D	.	.	0.140	0.30555	B	.	.	2.048318	0.26042	16.98	0.97321061458470104	0.33375	0.04728	0.10425	N	AEFBCI	0.021318	0.00936	N	-0.188250964942026	0.33623	1.909623	-0.51872558936901	0.21645	1.171901	1.67814498032346E-4	0.05721	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	1.58	1.58	0.22557	-1.207000	0.03118	.	.	-0.512000	0.04996	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	10.080	0.41554	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	4020.98	36	chr19	52416705	.	C	G	4020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.410e-01;DP=1179;ExcessHet=0.0000;FS=7.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-7.350e-01;SOR=1.071	GT:AD:DP:GQ:PL	0/1:164,155:319:99:4035,0,4390	20	0	1	0
chr19	52582382	52582382	G	A	exonic	ZNF701	.	nonsynonymous SNV	ZNF701:NM_018260:exon4:c.G323A:p.G108D	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.149	B	0.17	B	.	.	1.000	N	1.495	L	3.58	T	-0.945	T	0.015	T	0.139	0.010	4.064	0.691	-0.006	0.245	4.601	0.008	0.00186358377626	0.0006	0.000599042	0.0005	9.617e-05	0	0	0	0.0003	0.0022	0.0028	0.0004722	73	154602	rs141741740	0.0004	0.0004	0.0003	0.0004	0.0127	0.0003	0.0003	0.0103	0.0095	5.978e-05	0.0002	3.831e-05	2.519e-05	0	0.0127	0.0001	0.0005	0.0030	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0001	0.0013	0.0010	4.814e-05	0	6.541e-05	0	0	0	0.0136	0.0002	0	0.0023	0.208	0.19927	T	0.209	0.26798	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.46	0.36832	L	3.55	0.27822	T	-3.55	0.68764	D	0.035	0.04188	-0.9449	0.41830	T	0.015	0.05897	T	9	0.0071050823	0.00162	T	0.001864	0.03245	T	0.008	0.00669	.	.	0.0806252709748	0.07271	0.02728508765249665	0.02678	0.0443447036957	0.04785	0.277648687363	0.07166	T	0.014621	0.12415	T	-0.623378	0.00105	T	-0.67158	0.07507	T	0.0493177457647272	0.05381	T	0.637136	0.28234	T	0.1031166	0.24371	0.13144012	0.31563	0.1031166	0.24371	0.13144012	0.31562	-3.085	0.11125	T	.	.	0.097	0.17189	B	.;.;.;.	.;.;.;.	-0.727515	0.01259	0.065	0.23641779686726222	0.01009	0.00138	0.00846	N	AEFBI	0.020209	0.00775	N	-0.993070690885302	0.08752	0.4115218	-1.12187947220785	0.07283	0.3536814	0.00259554375461855	0.09558	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.81	0.691	0.17208	-0.173000	0.09844	.	.	-1.211000	0.01351	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7905:0.0:0.2095:0.0	4.601	0.11746	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4431.98	128	chr19	52582382	.	G	A	4431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.123e+00;DP=2117;ExcessHet=0.0000;FS=1.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-1.154e+00;SOR=0.600	GT:AD:DP:GQ:PL	0/1:162,162:324:99:4446,0,4427	20	0	1	0
chr19	52706750	52706750	C	G	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.G305C:p.C102S	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.151	B	0.061	B	.	.	1.000	N	1.795	L	3.17	T	-0.937	T	0.018	T	0.067	-1.223	0.062	-1.92	-0.752	-5.528	3.414	0.020	0.000672129425484	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313690072	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	3.827e-05	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.08634	T	0.409	0.14588	T	0.151	0.28027	B	0.061	0.26820	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	3.17	0.07711	T	-6.48	0.94145	D	0.052	0.02559	-0.9372	0.43057	T	0.018	0.07423	T	9	0.097115666	0.17466	T	6.72E-4	0.00383	T	0.020	0.03691	0.429	0.47680	0.0482279557977	0.04254	0.04334192104223155	0.04279	0.153538059209	0.17321	0.24411007762	0.03173	T	0.041828	0.25984	T	-0.394416	0.02519	T	-0.804328	0.01796	T	0.07587677131407	0.09451	T	0.370463	0.18749	T	0.100582026	0.23752	0.24122103	0.49515	0.100582026	0.23752	0.24122103	0.49514	-6.338	0.59637	T	.	.	0.162	0.35849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.795864	0.01115	0.051	0.26261784375490527	0.01250	0.00163	0.00971	N	AEFBI	0.029594	0.02822	N	-1.31750977567847	0.03475	0.1552798	-1.50561119890483	0.02300	0.1055898	2.72689462549855E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.958	-1.92	0.07203	-5.670000	0.00127	.	.	-0.383000	0.05380	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2847:0.275:0.4403:0.0	3.414	0.06941	923	0.18507	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5268.98	37	chr19	52706750	.	C	G	5268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.528e+00;DP=1236;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=-9.200e-01;QD=12.17;ReadPosRankSum=-4.250e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:224,209:433:99:5283,0,6015	20	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G,	.	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.27	B	0.303	B	0.544	N	1.000	N	2.14	M	1.22	T	-0.992	T	0.002	T	0.033	-0.469	1.836	-0.254	0.038	0.522	5.387	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	1222.92	63	chr19	53267316	.	G	C	1222.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.947e+00;DP=1756;ExcessHet=0.6776;FS=0.701;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=51.46;MQRankSum=-9.148e+00;QD=1.35;ReadPosRankSum=1.32;SOR=0.598	GT:AD:DP:GQ:PL	0/1:191,28:219:35:35,0,5806	17	0	4	0
chr19	54074013	54074013	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon4:c.G565A:p.G189S	.	.	428	1063	30	1	0	32	0.0148285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.167	B	0.025	B	.	.	1.000	N	-1.58	N	5.9	T	-0.949	T	0.001	T	0.051	0.264	5.428	-2.89	-0.368	-1.801	5.633	0.016	.	.	0.00359425	0.0071	0.0009	0	0.0016	0	0.0005	0	0.0169	0.0011319	175	154602	rs587722980	0.0014	0.0013	0.0008	0.0019	0.0179	0.0013	0.0013	0.0171	0.0168	6.33e-05	0.0005	0	8.394e-05	2.029e-05	0.0081	0.0003	0.0018	0.0179	0.0011	0.0011	0.0006	0.0016	0.0193	0.0009	0.0009	0.0161	0.0149	7.22e-05	0	0.0018	0	0.0002	0	0	0.0005	0.0005	0.0193	0.746	0.03631	T	0.804	0.04017	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.9	0.00626	T	0.4	0.03463	N	0.089	0.07811	-0.9492	0.41109	T	0.001	0.00255	T	9	0.004382521	0.00089	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.2144988584225561	0.21365	.	.	0.192686602473	0.00276	T	.	.	.	-0.771522	0.00013	T	-0.866734	0.00774	T	0.00562463313550613	0.00061	T	0.387561	0.09552	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05145	B	.;.	.;.	-0.702964	0.01314	0.071	0.58436056463733888	0.05993	0.00059	0.00440	N	AEFDBI	0.019243	0.00651	N	-1.69513126547227	0.00859	0.03717391	-1.67024795148733	0.01275	0.05747717	3.73360682516749E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.01	-2.89	0.05326	-1.683000	0.02035	.	.	-1.909000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4864:0.1724:0.3412	5.633	0.16798	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1763.98	34	chr19	54074013	.	C	T	1763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=812;ExcessHet=0.0000;FS=12.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-1.846e+00;SOR=0.183	GT:AD:DP:GQ:PL	0/1:52,68:120:99:1778,0,1336	20	0	1	0
chr19	54155791	54155791	C	T	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.G725A:p.R242Q,	.	.	415	1100	7	0	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.062	B	0.009	B	0.000	D	0.942	D	2.175	M	0.93	T	-0.909	T	0.117	T	0.19	2.914	15.71	3.51	1.272	2.460	11.888	0.064	0.0182343459008	0.0012	0.000798722	0.0012	0	0.0005	0	0.0014	0.0016	0	0.0010	0.0009185	142	154602	rs147840420	0.0010	0.0010	0.0010	0.0010	0.0028	0.0010	0.0010	0.0018	0.0014	0.0001	0.0009	3.861e-05	2.523e-05	0.0007	0.0028	0.0011	0.0011	0.0009	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0006	0.0010	0.0010	0.0001	0	0.0009	0	0	0.0008	0	0.0012	0.0009	0.0010	0.062	0.36912	T	0.076	0.42614	T	.	.	.	.	.	.	0.000060	0.53742	D	0.128295	0.941604	0.37340	D	.	.	.	0.93	0.44065	T	-1.18	0.30140	N	0.191	0.20925	-0.9093	0.46940	T	0.117	0.41187	T	10	0.015659153	0.00329	T	0.018234	0.40224	T	0.064	0.18567	.	.	0.689310383108	0.68664	0.30883921664517056	0.30796	0.0285750860134	0.02937	0.374609172344	0.21491	T	.	.	.	-0.483914	0.00702	T	-0.503264	0.22009	T	0.0580716453120877	0.06862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14568	B	.	.	2.072634	0.26359	17.09	0.99831141992168482	0.91284	0.86931	0.46325	D	AEFDBHCI	0.237700	0.35994	N	-0.161699088804172	0.34737	1.986519	-0.0958454314900773	0.35561	2.058878	0.999996435405343	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.54	3.51	0.39297	1.869000	0.39156	.	.	0.599000	0.40250	0.075000	0.22209	0.000000	0.08366	0.618000	0.31844	0.0:0.9129:0.0:0.0871	11.888	0.51895	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3070.11	33	chr19	54155791	.	C	T	3070.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.16;DP=945;ExcessHet=0.1072;FS=2.673;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.326;SOR=0.546	GT:AD:DP:GQ:PL	0/1:66,80:146:99:1703,0,1542	19	0	2	0
chr19	54274811	54274811	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon13:c.C1321T:p.P441S	.	.	10	1510	1	1	0	3	0.000992392	.	.	2357763	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.181	B	0.042	B	.	.	1.000	N	2.005	M	6.74	T	-0.971	T	0.002	T	0.141	-0.141	3.310	-2.63	-1.544	-0.622	2.880	0.040	0.00125445120863	0.0007	0.000599042	0.0008	0.0006	0.0004	0.0005	0.0012	0.0008	0.0022	0.0010	7.76e-05	12	154602	rs150493192	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0004	0.0007	0.0006	0.0004	0.0003	0	0.0002	0.0013	0.0002	0.0003	0.0008	0.0008	0.0006	0.0006	0.0005	0.0007	0.0016	0.0005	0.0005	0.0011	0.0010	0.0007	0	0.0016	0	0	0.0008	0	0.0003	0.0019	0.0004	0.166	0.25457	T	0.096	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	6.74	0.00523	T	-3.7	0.73151	D	0.039	0.02088	-0.9705	0.37094	T	0.002	0.00585	T	9	0.009287894	0.00210	T	0.001254	0.01683	T	0.040	0.10527	.	.	0.107399877778	0.10242	0.10588735684906393	0.10518	0.0468516035964	0.05097	0.398908168077	0.24916	T	.	.	.	-0.57251	0.00214	T	-0.66397	0.08001	T	0.0137508450613714	0.00258	T	0.716728	0.32905	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13221	B	.;.;.;.	.;.;.;.	1.213996	0.16070	12.30	0.43291552645115311	0.03249	0.00329	0.01719	N	AEFBI	0.058261	0.10920	N	-1.7355209526116	0.00723	0.03122617	-1.89169239811779	0.00508	0.02253057	0.563133108519927	0.21430	0.615755	0.39536	0	0.659912	0.62753	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	1.31	-2.63	0.05775	-0.227000	0.09131	.	.	-0.851000	0.02709	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.4112:0.0:0.3846:0.2041	2.880	0.05297	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1249.98	40	chr19	54274811	.	G	A	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=867;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.80;MQRankSum=-3.324e+00;QD=11.90;ReadPosRankSum=-1.153e+00;SOR=0.850	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1264,0,1571	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,69,0:350:99:0|1:54633108_T_G:2052,0,11350,2897,11558,14455:54633108	1	0	19	0
chr19	54994390	54994390	T	A	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon10:c.T2764A:p.F922I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.002	B	0.011	B	.	.	1.000	N	0.48	N	0.68	T	-1.055	T	0.055	T	0.215	-2.031	0.006	-4.94	-1.516	-0.759	1.613	0.042	0.00192132833228	.	.	8.237e-06	0	8.637e-05	0	0	0	0	0	1.29e-05	2	154602	rs773633093	1.095e-05	1.094e-05	8.17e-06	1.375e-05	0.0006	6.48e-06	5.25e-06	0.0001	8e-05	0	0.0001	0	0	0	0.0006	1.799e-06	8.283e-05	0	6.572e-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	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.15521	B	.	.	.	.	1	0.08975	N	0.715	0.18665	N	0.68	0.51952	T	-0.83	0.24244	N	0.337	0.37820	-1.0547	0.13119	T	0.055	0.23375	T	9	0.087572604	0.14997	T	0.001921	0.03404	T	0.042	0.11227	0.48	0.55983	0.162503812791	0.15892	0.20520044938741344	0.20437	0.0576898165792	0.06392	0.300746738911	0.10512	T	0.005609	0.05061	T	-0.411604	0.01939	T	-0.603316	0.12534	T	0.0167957193329741	0.00434	T	.	.	.	0.035083994	0.04062	0.03221268	0.01923	0.035083994	0.04062	0.03221268	0.01923	-2.711	0.07447	T	.	.	0.069	0.09239	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.934302	0.00870	0.031	0.25213567409848114	0.01152	0.01061	0.03940	N	AEFBI	0.049868	0.08659	N	-2.03389084962088	0.00179	0.007656379	-2.11976905714678	0.00169	0.007419979	7.91770819564141E-4	0.07826	0.706298	0.61202	0	0.709663	0.81188	0	0.577349	0.28860	0	0.655142	0.61905	0	.	.	2.47	-4.94	0.02830	-1.827000	0.01798	.	.	-1.970000	0.00470	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1468:0.114:0.3068:0.4325	1.613	0.02535	952	0.10565	.;.;.;.;.;.;.	.	.	.	.	.	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	1178.98	33	chr19	54994390	.	T	A	1178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.525e+00;DP=805;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-7.000e-03;SOR=0.841	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1193,0,1247	20	0	1	0
chr19	55137104	55137104	G	A	exonic	TNNT1	.	nonsynonymous SNV	TNNT1:NM_001126133:exon10:c.C577T:p.R193W	Nemaline myopathy 5, Amish type, Autosomal recessive	YES	.	.	.	.	.	.	.	0.1207	0.234	2129545	Nemaline_myopathy_5	MONDO:MONDO:0011539,MedGen:C1854380,OMIM:605355,Orphanet:98902	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	.	.	1.000	D	2.955	M	-3.98	D	0.963	D	0.926	D	0.63	3.231	16.83	0.808	0.603	3.404	8.611	0.862	0.848506271944	7.7e-05	.	4.219e-05	9.946e-05	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs139208059	2.444e-05	2.405e-05	1.283e-05	3.499e-05	0.0002	1.446e-05	1.17e-05	9.313e-05	7.206e-05	0.0001	0	0	0	3.098e-05	0	4.504e-06	0	0.0002	1.784e-05	1.593e-05	1.7e-05	1.878e-05	6.848e-05	2.96e-06	1.11e-06	1.134e-05	4.24e-06	6.848e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	0.999992	0.58761	D	2.765	0.80766	M	-3.98	0.96277	D	-6.0	0.89534	D	0.736	0.75927	0.963	0.96595	D	0.926	0.97554	D	9	0.8083526	0.80899	D	0.848506	0.98831	D	0.862	0.95802	.	.	0.99545947487	0.99541	0.3014495418418147	0.30057	1.26042448871	0.82010	0.673257470131	0.63302	T	0.890078	0.97760	D	0.281714	0.81461	D	0.166886	0.81222	D	0.916008710861206	0.57326	D	0.994026	0.98076	D	0.09753213	0.22993	0.14903326	0.35204	0.09753213	0.22992	0.14903326	0.35203	-11.633	0.83053	D	.	.	0.368	0.57732	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.601165	0.72877	25.9	0.99893798802671085	0.96742	0.90600	0.51911	D	AEFGBI	0.805926	0.73038	D	0.419124503557811	0.62475	4.463922	0.2578052639972	0.53096	3.48021	0.0391532153537446	0.14381	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	3.62	0.808	0.17861	3.819000	0.55386	0.759000	0.21299	0.604000	0.46097	1.000000	0.71638	0.990000	0.31317	0.595000	0.31264	0.0:0.0:0.375:0.625	8.611	0.32965	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	1	0	0	0	0	0	0	0.02381	2597.98	40	chr19	55137104	.	G	A	2597.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.83;ReadPosRankSum=0.768;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,66:119:99:0|1:55137104_G_A:2612,0,2014:55137104	20	0	1	0
chr19	55137107	55137107	-	CACTA	exonic	TNNT1	.	stopgain	TNNT1:NM_001126133:exon10:c.573_574insTAGTG:p.L192*	Nemaline myopathy 5, Amish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	792815	Nemaline_myopathy_5|not_provided	MONDO:MONDO:0011539,MedGen:C1854380,OMIM:605355,Orphanet:98902|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2642.94	40	chr19	55137107	.	G	GCACTA	2642.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.472e+00;DP=817;ExcessHet=0.0000;FS=0.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.21;ReadPosRankSum=0.268;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,67:119:99:0|1:55137104_G_A:2657,0,1982:55137104	20	0	1	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	1/1:0,85,0:85:99:.:.:3810,264,0,3810,264,3810	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	1/1:0,85,0:85:99:.:.:3810,264,0,3810,264,3810	0	18	2	0
chr19	56191870	56191870	C	T	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon3:c.G568A:p.A190T	.	.	426	1092	4	0	0	4	0.00182815	.	.	3421077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.001	B	0.001	B	.	.	1.000	N	-0.55	N	3.4	T	-0.972	T	0.006	T	0.045	1.553	11.15	-3.81	-2.725	-3.709	1.615	0.020	0.000522994835994	.	.	0.0001	0	0	0	0	7.581e-05	0	0.0005	9.06e-05	14	154602	rs757976812	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0016	4.059e-05	3.734e-05	0.0008	0.0006	0	8.944e-05	3.826e-05	7.557e-05	0	0.0016	1.979e-05	0.0001	0.0003	5.26e-05	5.254e-05	5.142e-05	5.382e-05	0.0002	2.558e-05	1.831e-05	1.972e-05	1.125e-05	2.415e-05	0	6.549e-05	0	0.0002	0	0.0032	5.881e-05	0	0	0.501	0.07720	T	0.734	0.05090	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	3.4	0.05642	T	0.21	0.04776	N	0.105	0.08925	-0.9716	0.36862	T	0.006	0.01870	T	9	0.028461218	0.00978	T	5.23E-4	0.00174	T	0.020	0.03691	0.384	0.40298	0.0482279557977	0.04254	0.03744932293745089	0.03690	0.0130179826969	0.01253	0.31578502059	0.12783	T	0.003761	0.03171	T	-0.673305	0.00053	T	-0.900385	0.00500	T	0.0124382818815172	0.00204	T	0.269973	0.04523	T	0.026911257	0.01810	0.048033446	0.07048	0.026911257	0.01809	0.048033446	0.07048	-3.598	0.17828	T	.	.	0.178	0.40889	B	.;.	.;.	-1.006235	0.00762	0.024	0.77052528778526319	0.11717	0.00072	0.00504	N	AEFBI	0.018723	0.00590	N	-1.96066572043616	0.00257	0.01100672	-2.03682902796366	0.00256	0.01127441	0.00102754490975278	0.08137	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.9	-3.81	0.04013	-2.429000	0.01101	.	.	-0.574000	0.04772	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1407:0.3668:0.2783:0.2142	1.615	0.02538	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1413.98	46	chr19	56191870	.	C	T	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.998e+00;DP=801;ExcessHet=0.0000;FS=1.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=1.84;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,55:116:99:0|1:56191870_C_T:1428,0,2343:56191870	20	0	1	0
chr19	57455498	57455498	G	A	exonic	VN1R1	.	nonsynonymous SNV	VN1R1:NM_020633:exon1:c.C989T:p.T330I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.704	P	0.394	B	.	.	1.000	N	1.5	L	2.98	T	-1.038	T	0.023	T	0.077	2.323	13.73	-5.31	-0.858	-0.133	4.032	0.020	0.00208085625024	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014075344	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.656e-05	0	1.316e-05	1.314e-05	1.287e-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	0.052	0.39097	T	0.024	0.56640	D	0.704	0.41950	P	0.394	0.44277	B	.	.	.	.	1	0.08975	N	2.035	0.55589	M	2.98	0.09356	T	-3.5	0.68178	D	0.09	0.06854	-1.0382	0.17863	T	0.023	0.09878	T	9	0.12538457	0.23827	T	0.002081	0.03828	T	0.020	0.03691	0.491	0.57732	0.253726318573	0.24972	0.05290364602734712	0.05232	0.0796213563094	0.08961	0.557300209999	0.46887	T	0.016803	0.13819	T	-0.348452	0.04825	T	-0.738304	0.03963	T	0.684079885482788	0.39975	D	0.49475	0.15329	T	0.142719	0.32832	0.13766353	0.32898	0.142719	0.32831	0.13766353	0.32897	-5.671	0.43435	T	.	.	0.146	0.32251	B	.	.	0.101449	0.05029	1.578	0.99008085368726972	0.50293	0.01095	0.04025	N	AEFBI	0.033281	0.03917	N	-0.941760186516252	0.09878	0.4695298	-1.16842392523233	0.06444	0.3101841	2.30622176197677E-4	0.06048	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.07	-5.31	0.02519	-0.189000	0.09625	.	.	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0803:0.3901:0.2843:0.2453	4.032	0.09199	981	0.03995	.	.	.	.	.	.	Uncertain significance	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	108.01	33	chr19	57455498	.	G	A	108.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.629e+00;DP=1499;ExcessHet=0.0000;FS=151.643;InbreedingCoeff=-0.0269;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=1.50;SOR=9.750	GT:AD:DP:GQ:PL	0/1:124,30:163:99:122,0,2815	20	0	1	0
chr19	57487972	57487972	G	A	exonic	ZNF419	.	nonsynonymous SNV	ZNF419:NM_001098491:exon1:c.G22A:p.D8N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.993	D	0.956	D	.	.	1.000	N	0.75	N	7.23	T	-0.982	T	0.025	T	0.093	1.694	11.62	0.876	0.371	-0.061	6.158	0.007	0.00171874204057	.	.	4.245e-05	0	0	0.0004	0	1.545e-05	0.0011	0	3.23e-05	5	154602	rs768241137	2.669e-05	2.668e-05	1.906e-05	3.439e-05	0.0004	1.998e-05	1.754e-05	0.0002	0.0002	0	0	0	0.0004	0	0	2.159e-05	1.657e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0004	5.24e-06	2.45e-06	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	1.469e-05	0	0	0.046	0.46513	D	0.141	0.45110	T	0.403	0.65571	B	0.12	0.69739	B	.	.	.	.	1	0.08975	N	1.365	0.34158	L	3.28	0.06523	T	-1.19	0.63669	N	0.122	0.12341	-0.9818	0.34585	T	0.025	0.10688	T	9	0.04787025	0.04162	T	0.001719	0.02882	T	0.007	0.00512	0.366	0.37361	0.168933306366	0.16529	0.07149273854729853	0.07086	0.0225929202177	0.02277	0.545993447304	0.45291	T	0.004905	0.04322	T	-0.527588	0.00397	T	-0.695296	0.06087	T	0.0243846718572106	0.01193	T	0.113289	0.02867	T	0.044084292	0.06984	0.049520478	0.07586	0.044084292	0.06984	0.049520478	0.07585	-4.381	0.39556	T	.	.	0.223	0.49673	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.535188	0.19691	14.39	0.97365014646030235	0.33593	0.01411	0.04770	N	ALL	0.026167	0.01917	N	-0.884665221424562	0.11207	0.5395738	-0.997720733036265	0.09835	0.4917156	0.999977839089699	0.50053	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	2.0	0.876	0.18274	-0.140000	0.10323	.	.	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3221:0.6779:0.0	6.158	0.19566	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	1111.98	43	chr19	57487972	.	G	A	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.882;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.674e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1126,0,1126	20	0	1	0
chr19	57547708	57547708	G	A	exonic	ZNF550	.	nonsynonymous SNV	ZNF550:NM_001277090:exon4:c.C536T:p.A179V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.003	B	0.004	B	.	.	1.000	N	0	N	1.93	T	-1.001	T	0.025	T	0.227	0.722	7.839	-4.0	-0.448	-1.182	5.674	0.006	0.000934611661837	.	.	0.0001	0	0	0.0018	0	1.498e-05	0.0011	0	0.0001358	21	154602	rs781390222	8.345e-05	8.345e-05	8.031e-05	8.663e-05	0.0020	7.136e-05	6.684e-05	0.0016	0.0015	0	0	0	0.0020	0	0	2.248e-05	0.0003	1.159e-05	6.572e-05	6.567e-05	3.854e-05	9.417e-05	0.0017	3.517e-05	2.616e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	1.47e-05	0	0	0.127	0.27080	T	0.344	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.93	0.22881	T	-1.4	0.34596	N	0.15	0.21710	-1.0012	0.29574	T	0.025	0.10821	T	9	0.007910967	0.00180	T	9.35E-4	0.00911	T	0.006	0.00375	.	.	0.178374595973	0.17440	0.039917822178102275	0.03937	0.0724097737162	0.08119	0.212645739317	0.00928	T	0.01309	0.11383	T	-0.592493	0.00162	T	-0.630328	0.10391	T	0.00325044770432029	0.00034	T	0.20228	0.03406	T	0.036280002	0.04434	0.061364718	0.11839	0.036280002	0.04433	0.061364718	0.11838	-3.733	0.19806	T	.	.	0.108	0.21428	B	.;.;.	.;.;.	0.209569	0.05935	2.373	0.76468481203426797	0.11480	0.03155	0.08121	N	AEFGBI	0.037730	0.05233	N	-1.44056503392359	0.02292	0.1010413	-1.50287175924018	0.02322	0.1066132	0.139511607686058	0.17246	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.58	-4.0	0.03787	-0.921000	0.04117	.	.	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.0:0.2102:0.4541:0.3357	5.674	0.17010	988	0.01987	.;.;.	.	.	.	.	.	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	3565.98	39	chr19	57547708	.	G	A	3565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.511e+00;DP=1120;ExcessHet=0.0000;FS=3.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=1.39;SOR=0.792	GT:AD:DP:GQ:PL	0/1:172,137:309:99:3580,0,4841	20	0	1	0
chr19	57941799	57941799	T	C	exonic	ZNF256	.	nonsynonymous SNV	ZNF256:NM_001375403:exon2:c.A550G:p.S184G	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.292	B	0.157	B	.	.	1.000	N	0.135	N	2.42	T	-0.978	T	0.012	T	0.107	0.761	8.026	-4.89	-1.443	-7.893	3.419	0.012	0.0032677882782	0.0017	0.00139776	0.0024	0.0003	0.0021	0	0.0023	0.0032	0.0011	0.0018	0.0023738	367	154602	rs140799051	0.0030	0.0030	0.0030	0.0030	0.0035	0.0029	0.0029	0.0034	0.0034	0.0005	0.0012	0.0002	2.519e-05	0.0011	0.0010	0.0035	0.0022	0.0022	0.0018	0.0018	0.0019	0.0017	0.0028	0.0016	0.0016	0.0025	0.0023	0.0007	0.0199	0.0008	0	0	0.0014	0	0.0028	0.0014	0.0017	0.283	0.15354	T	0.478	0.11968	T	0.292	0.32352	B	0.157	0.34536	B	.	.	.	.	1	0.08975	N	0.275	0.09989	N	2.42	0.15376	T	-2.13	0.48354	N	0.108	0.09349	-0.9778	0.35503	T	0.012	0.04700	T	9	0.010630369	0.00236	T	0.003268	0.07237	T	0.012	0.01476	.	.	0.0551355673512	0.04727	0.03206899354367083	0.03154	0.120479051588	0.13563	0.355899184942	0.18787	T	0.020088	0.15881	T	-0.675361	0.00051	T	-0.741932	0.03810	T	0.0153281597660702	0.00340	T	0.378362	0.09086	T	0.04276352	0.06543	0.032602947	0.02021	0.04276352	0.06543	0.032602947	0.02021	-7.032	0.54267	T	.	.	0.278	0.51094	B	.	.	-0.542977	0.01734	0.129	0.87503712659419497	0.17274	0.01861	0.05745	N	AEFDBHCI	0.052954	0.09498	N	-1.50594206562015	0.01810	0.07934977	-1.65022437807027	0.01375	0.06209695	0.306488700207655	0.19243	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.45	-4.89	0.02875	-6.350000	0.00085	.	.	0.485000	0.22221	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4583:0.1335:0.0:0.4082	3.419	0.06959	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2699.98	34	chr19	57941799	.	T	C	2699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=906;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.486;SOR=0.615	GT:AD:DP:GQ:PL	0/1:121,94:215:99:2714,0,3228	20	0	1	0
chr20	257780	257780	T	A	exonic	DEFB132	.	startloss	DEFB132:NM_207469:exon1:c.T2A:p.M1?,	.	.	447	1072	3	0	0	3	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.001	D	1.000	D	.	.	1.93	T	-0.877	T	0.148	T	0.814	1.269	10.14	4.26	1.919	1.666	9.969	0.366	0.0258587880263	0.0002	0.000399361	0.0012	0.0005	0.0070	0	0	0.0006	0.0077	0.0003	0.0008861	137	154602	rs188183503	0.0006	0.0006	0.0006	0.0005	0.0040	0.0005	0.0005	0.0036	0.0034	0.0007	0.0040	0	0	1.881e-05	0.0030	0.0005	0.0013	0.0001	0.0018	0.0013	0.0017	0.0020	0.0069	0.0016	0.0015	0.0057	0.0052	0.0018	0	0.0069	0	0	0.0002	0.0213	0.0010	0.0046	0.0003	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000626	0.42799	D	0.000000	1	0.81001	D	.	.	.	1.93	0.22881	T	-6.0	0.89534	D	0.835	0.83066	-0.8771	0.49989	T	0.148	0.47380	T	9	0.07539418	0.11648	T	0.025859	0.48807	D	0.366	0.68582	.	.	0.452264262256	0.44847	0.7616351401325319	0.76111	.	.	.	.	.	0.139932	0.47421	T	-0.251845	0.13873	T	-0.133306	0.60693	T	0.10121964496522	0.12491	T	0.9	0.65058	D	0.91155255	0.92439	0.9048207	0.95319	0.91155255	0.92441	0.9048207	0.95320	-10.805	0.78577	D	.	.	.	.	.	.	.	2.508235	0.32389	19.03	0.93721798785588084	0.23645	0.68369	0.33776	D	AEFBHCI	0.015611	0.00307	N	0.335465208140884	0.57977	3.967474	0.244520267645349	0.52337	3.409325	0.996626136584555	0.34876	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.26	4.26	0.49832	1.664000	0.37055	1.749000	0.28460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.082000	0.17360	0.0:0.0:0.0:1.0	9.969	0.40916	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1771.98	43	chr20	257780	.	T	A	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=929;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.522;SOR=0.620	GT:AD:DP:GQ:PL	0/1:77,72:149:99:1786,0,1929	20	0	1	0
chr20	845565	845565	T	C	exonic	FAM110A	.	nonsynonymous SNV	FAM110A:NM_031424:exon1:c.T761C:p.V254A	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.0	B	0.002	B	0.168	N	1.000	N	0.345	N	1.07	T	-1.017	T	0.032	T	0.009	2.218	13.37	2.69	0.563	-0.156	4.724	0.055	.	.	0.00658946	0.0036	0.0001	0.0003	0.0127	0	3.107e-05	0.0046	0.0188	0.0033053	511	154602	rs191347965	0.0015	0.0015	0.0010	0.0020	0.0186	0.0014	0.0014	0.0178	0.0175	0.0001	8.949e-05	0	0.0082	0	0.0005	2.428e-05	0.0031	0.0186	0.0012	0.0012	0.0009	0.0015	0.0185	0.0010	0.0010	0.0154	0.0142	0.0002	0	0.0002	0	0.0120	0	0	2.943e-05	0.0071	0.0185	0.893	0.02465	T	0.745	0.04895	T	0.0	0.02946	B	0.002	0.06944	B	0.167512	0.17474	N	0.532229	1	0.08975	N	0.69	0.16971	N	1.07	0.39586	T	1.31	0.00936	N	0.013	0.00142	-1.0169	0.24722	T	0.032	0.13942	T	10	0.0020591915	0.00029	T	.	.	.	0.055	0.15663	.	.	0.043077524339	0.03247	0.22275729270606417	0.22190	0.906982577628	0.70879	0.56493806839	0.47963	T	0.003464	0.02869	T	-0.68532	0.00045	T	-0.742255	0.03796	T	0.00137333972719998	0.00014	T	0.40366	0.10339	T	0.019020246	0.00426	0.04527077	0.06052	0.019020246	0.00426	0.04527077	0.06052	-4.002	0.23834	T	0.09640744764139532	0.06668	0.054	0.00328	B	.;.;.;.;.	.;.;.;.;.	0.628987	0.09975	6.729	0.72017665297256062	0.09827	0.03145	0.08104	N	AEFDBCI	0.035154	0.04478	N	-1.08931529135313	0.06838	0.3159812	-0.981569933174632	0.10199	0.5121832	0.999977277113865	0.50053	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.463824	0.07026	1	.	.	4.64	2.69	0.30923	0.315000	0.19200	0.616000	0.20081	-0.349000	0.05595	0.004000	0.16614	0.123000	0.22922	0.312000	0.24784	0.1708:0.6396:0.0:0.1896	4.724	0.12312	934	0.15400	Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain;Centrosome-associated, FAM110, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1700.98	41	chr20	845565	.	T	C	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=958;ExcessHet=0.0000;FS=2.135;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.642;SOR=0.934	GT:AD:DP:GQ:PL	0/1:68,72:140:99:1715,0,1515	20	0	1	0
chr20	3703275	3703275	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon5:c.G1150A:p.D384N	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.151	B	0.232	B	0.001	D	1.000	N	2.95	M	-1.45	T	-0.267	T	0.528	D	0.166	1.453	10.80	3.14	2.421	0.461	9.399	0.330	0.0425674091489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796680284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.134	0.34241	T	0.151	0.28027	B	0.232	0.38314	B	0.000780	0.41888	D	0.000000	1	0.08975	N	2.415	0.69758	M	-1.45	0.80899	T	-3.54	0.68651	D	0.313	0.35301	-0.2674	0.75882	T	0.528	0.82463	D	10	0.7025489	0.72535	D	0.042567	0.60531	D	0.330	0.65226	0.852	0.95318	0.808399012084	0.80660	0.9018971472833894	0.90161	0.342334712265	0.36172	0.466462224722	0.34196	T	0.297711	0.67031	T	-0.066864	0.41826	T	-0.333822	0.41043	T	0.743036866188049	0.42901	D	0.719228	0.33234	T	0.10583206	0.25023	0.122841455	0.29627	0.10583206	0.25023	0.122841455	0.29626	-6.365	0.49236	T	.	.	0.120	0.24733	B	.	.	1.598037	0.20432	14.75	0.99472255825992739	0.66419	0.09625	0.15339	N	AEFDBI	0.150718	0.27506	N	-0.347061199764339	0.27380	1.501763	-0.426134284539963	0.24234	1.325909	5.90871555410028E-4	0.07390	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.2	3.14	0.35196	1.001000	0.29384	0.098000	0.14610	0.599000	0.40250	0.140000	0.23505	0.002000	0.18203	0.003000	0.05239	0.0:0.7643:0.1492:0.0865	9.399	0.37583	744	0.52588	Immunoglobulin-like domain|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	2427.98	34	chr20	3703275	.	C	T	2427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=904;ExcessHet=0.0000;FS=1.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-6.870e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/1:93,93:186:99:2442,0,2300	20	0	1	0
chr20	17659175	17659175	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon3:c.G1333A:p.A445T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	.	.	.	.	0.459	N	1.000	N	.	.	0.97	T	-1.046	T	0.038	T	0.084	0.614	7.305	-9.49	-1.795	-7.703	7.174	0.010	0.0103497458706	.	.	0.0025	0.0012	0.0033	0.0042	0.0041	0.0020	0.0054	0.0025	0.0001153	3	26028	rs111686038	0.0005	0.0017	0.0005	0.0004	0.0010	0.0004	0.0004	0.0005	0.0004	0.0010	0.0009	0.0010	0.0005	0.0003	0	0.0004	0.0007	0.0003	0.0008	0.0030	0.0006	0.0010	0.0010	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0009	0.0006	0.0010	0.0021	0.0043	0.0005	0.0011	0.0003	0.233	0.18122	T	0.552	0.09361	T	.	.	.	.	.	.	0.458924	0.04858	N	1.439380	1	0.08975	N	1.1	0.28011	L	0.97	0.42502	T	-0.54	0.16598	N	0.04	0.01347	-1.0461	0.15505	T	0.038	0.16333	T	7	0.0046352446	0.00097	T	0.01035	0.26785	T	0.010	0.01040	.	.	0.15556083564	0.15200	.	.	.	.	.	.	.	0.039407	0.25178	T	-0.467789	0.00878	T	-0.708685	0.05363	T	0.0431740609363811	0.04269	T	0.943606	0.78679	D	0.014916366	0.00113	0.03476463	0.02602	0.014916366	0.00113	0.03476463	0.02602	-7.756	0.59396	D	.	.	0.084	0.13174	B	.;.	.;.	-0.892629	0.00938	0.036	0.70224377198824384	0.09226	0.02338	0.06684	N	AEFBI	.	.	.	-1.47714054510703	0.02012	0.08840891	-1.72579488968926	0.01028	0.04611071	0.999999997930758	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.75	-9.49	0.00495	-4.901000	0.00201	-20.000000	0.00162	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0983:0.1459:0.097:0.6588	7.174	0.24913	899	0.25060	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	118.33	131	chr20	17659175	.	C	T	118.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.685e+00;DP=2989;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0373;MLEAC=1;MLEAF=0.025;MQ=48.33;MQRankSum=-1.768e+00;QD=2.04;ReadPosRankSum=0.149;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,11:58:99:0|1:17659171_T_G:132,0,1718:17659171	19	0	1	1
chr20	25504999	25504999	G	C	exonic	NINL	.	nonsynonymous SNV	NINL:NM_001318226:exon6:c.C597G:p.S199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.949	P	0.498	P	0.524	N	0.668	N	0.55	N	1.99	T	-1.044	T	0.036	T	0.148	1.432	10.73	2.17	0.340	0.419	5.744	0.033	0.00304033216398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964929847	1.368e-05	1.368e-05	1.225e-05	1.513e-05	1.709e-05	8.94e-06	7.27e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	1.657e-05	0	3.286e-05	3.284e-05	3.855e-05	2.691e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.24	0.36310	T	0.096	0.39340	T	0.03	0.53761	B	0.014	0.47596	B	0.524465	0.11705	N	0.813760	0.667988	0.30390	N	1.5	0.37844	L	1.99	0.21666	T	-1.94	0.45042	N	0.266	0.30118	-1.0436	0.16236	T	0.036	0.15596	T	10	0.07772449	0.12301	T	0.00304	0.06547	T	0.033	0.08068	0.186	0.09517	0.234412748748	0.23057	0.23149151623027958	0.23064	0.118513868032	0.13345	0.301024526358	0.10553	T	0.006545	0.05971	T	-0.233618	0.16174	T	-0.573352	0.15143	T	0.145293414592743	0.16722	T	0.575442	0.20674	T	0.060919095	0.12557	0.08966569	0.20981	0.060919095	0.12557	0.08966569	0.20980	-8.976	0.69588	D	.	.	0.224	0.45556	B	.;.	.;.	1.847871	0.23478	16.03	0.98960869174366106	0.49324	0.60508	0.31215	D	AEFBI	0.112420	0.22221	N	-0.475466520628232	0.22886	1.225205	-0.487504445210733	0.22497	1.222202	0.00469481621268306	0.10676	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.18	2.17	0.26736	0.330000	0.19460	3.541000	0.39004	0.670000	0.69193	0.854000	0.30511	1.000000	0.68203	0.159000	0.20615	0.2387:0.1441:0.6172:0.0	5.744	0.17378	587	0.69154	EF-hand domain|EF-hand 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	1332.98	35	chr20	25504999	.	G	C	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=-3.910e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1347,0,964	20	0	1	0
chr20	32215420	32215420	G	A	exonic	POFUT1	.	nonsynonymous SNV	POFUT1:NM_015352:exon3:c.G398A:p.R133Q	Dowling-Degos disease 2, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.992	D	0.74	P	0.000	D	1.000	D	2.56	M	1.55	T	-0.908	T	0.169	T	0.855	5.662	36	5.64	2.664	9.151	19.715	0.348	0.0243673119479	.	.	2.478e-05	0	0	0.0001	0	3.007e-05	0	0	1.94e-05	3	154602	rs777768127	9.581e-06	9.577e-06	6.808e-06	1.238e-05	2.988e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	2.988e-05	0	0	2.52e-05	0	0	9.895e-06	0	1.16e-05	3.287e-05	3.283e-05	2.57e-05	4.037e-05	9.66e-05	1.261e-05	7.98e-06	3.251e-05	1.916e-05	9.66e-05	0	0	0	0	0	0	1.47e-05	0	0	0.113	0.29029	T	0.509	0.10857	T	0.95	0.64738	P	0.64	0.55692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.735	0.79925	M	1.55	0.29866	T	-1.54	0.37375	N	0.835	0.83066	-0.9083	0.47061	T	0.169	0.50858	T	10	0.5695101	0.65239	D	0.024367	0.47357	T	0.348	0.66956	.	.	0.378867003059	0.37503	0.7529231981420781	0.75239	0.763629131486	0.64388	0.544515371323	0.45084	T	0.091211	0.38747	T	0.0657758	0.60330	T	0.0258341	0.72007	D	0.610581563551104	0.36824	D	0.963704	0.87416	D	0.6245991	0.74009	0.4562598	0.68394	0.6245991	0.74010	0.4562598	0.68395	-5.407	0.40987	T	.	.	0.571	0.67660	P	.;.	.;.	5.525844	0.91826	32	0.99947642914216484	0.99923	0.99197	0.92664	D	AEFBI	0.868237	0.78829	D	0.783410909535958	0.85057	8.464172	0.795443365792414	0.89474	9.990078	0.99999999999885	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.523000	0.97087	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.715	0.96110	350	0.85473	.;.	.	.	.	.	.	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	1320.98	33	chr20	32215420	.	G	A	1320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=806;ExcessHet=0.0000;FS=1.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-4.800e-02;SOR=0.522	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1335,0,1248	20	0	1	0
chr20	33237727	33237727	G	A	exonic	BPIFA1	.	nonsynonymous SNV	BPIFA1:NM_001243193:exon2:c.G16A:p.G6S	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.001	B	0.003	B	0.623	N	1.000	N	0.39	N	2.69	T	-0.935	T	0.016	T	0.09	1.260	10.11	0.989	0.130	0.021	4.196	0.085	0.00325435080307	7.7e-05	.	1.806e-05	0	0	0	0	3.124e-05	0	0	1.94e-05	3	154602	rs374193470	4.584e-06	1.163e-05	2.985e-06	6.26e-06	6.761e-05	1.65e-06	1.08e-06	2.277e-05	1.362e-05	0	0	0	0	0	0	1.932e-06	0	6.761e-05	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.758	0.03502	T	0.417	0.14241	T	0.001	0.07471	B	0.003	0.08700	B	0.623410	0.10755	N	0.833791	1	0.08975	N	0.505	0.13445	N	2.69	0.12268	T	-0.66	0.19085	N	0.097	0.18376	-0.9353	0.43349	T	0.016	0.06425	T	10	0.096161485	0.17229	T	0.003254	0.07177	T	0.085	0.24743	.	.	0.0666544352282	0.05500	0.2984634169577565	0.29759	0.0219534897478	0.02200	0.267213970423	0.05780	T	0.193698	0.54925	T	-0.500757	0.00566	T	-0.768629	0.02813	T	0.0197531391636241	0.00677	T	0.535446	0.17943	T	0.030776253	0.02799	0.04093911	0.04540	0.030776253	0.02799	0.04093911	0.04539	-2.741	0.09914	T	.	.	0.092	0.19032	B	.;.;.;.	.;.;.;.	-0.016509	0.04170	1.005	0.72966523965957952	0.10159	0.03582	0.08799	N	AEFBI	0.050317	0.08782	N	-1.13714794508189	0.05994	0.274772	-1.12282772893111	0.07265	0.3527479	1.31891195088915E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.11	0.989	0.18920	0.034000	0.13663	-0.044000	0.12631	0.676000	0.76740	0.003000	0.16062	0.002000	0.18203	0.004000	0.06068	0.2842:0.171:0.5448:0.0	4.196	0.09902	81	0.96616	.;.;.;.	.	.	.	.	.	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	34	chr20	33237727	.	G	A	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=920;ExcessHet=0.0000;FS=5.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-9.400e-02;SOR=0.386	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1632,0,1784	20	0	1	0
chr20	33408583	33408583	G	A	exonic	SNTA1	.	nonsynonymous SNV	SNTA1:NM_003098:exon8:c.C1442T:p.S481L,	Long QT syndrome 12, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	186287	Long_QT_syndrome_12|not_specified|Long_QT_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0013062,MedGen:C2751830,OMIM:612955,Orphanet:101016,Orphanet:768|MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.869	P	0.000	D	0.998	D	2.095	M	-1.87	D	0.536	D	0.698	D	0.451	4.150	21.4	4.73	2.167	2.762	17.329	0.540	0.0799196299761	7.7e-05	.	2.472e-05	0	0	0	0	4.497e-05	0	0	4.53e-05	7	154602	rs370531842	0.0001	0.0001	0.0001	9.626e-05	0.0001	9.873e-05	9.282e-05	0.0001	0.0001	5.974e-05	4.472e-05	0	0	0	0	0.0001	6.623e-05	1.159e-05	6.571e-05	6.567e-05	8.991e-05	4.036e-05	9.65e-05	3.517e-05	2.616e-05	3.249e-05	1.914e-05	9.65e-05	0	6.547e-05	0	0	0	0	7.349e-05	0	0	0.013	0.53900	D	0.022	0.57587	D	1.0	0.90584	D	0.869	0.61749	P	0.000247	0.46924	D	0.146305	0.998337	0.44783	D	2.295	0.65404	M	-1.87	0.84415	D	-3.68	0.70314	D	0.667	0.67564	0.536	0.91043	D	0.698	0.89580	D	10	0.7927327	0.78802	D	0.07992	0.73344	D	0.540	0.80782	.	.	0.890496652	0.88941	0.5688575547055033	0.56813	0.25362918265	0.27937	0.667308151722	0.62455	T	0.596364	0.86999	D	-0.0465216	0.44972	T	-0.112919	0.62379	T	0.70851081609726	0.41127	D	0.981402	0.93712	D	0.3632441	0.58081	0.28907537	0.54926	0.3632441	0.58082	0.28907537	0.54925	-13.704	0.92055	D	0.4828639369564208	0.56120	0.314	0.54034	B	.	.	4.979936	0.82485	27.8	0.9988702502107828	0.96204	0.97592	0.75763	D	AEFDBI	0.636284	0.61549	D	0.509760599934278	0.67666	5.11205	0.493725477028733	0.67573	5.102191	0.999652428613431	0.41424	0.706298	0.61202	0	0.688494	0.66719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	3.489000	0.53000	10.004000	0.83058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.329	0.87144	63	0.97314	.	.	.	.	.	.	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	848.98	33	chr20	33408583	.	G	A	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.088;DP=756;ExcessHet=0.0000;FS=3.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-5.080e-01;SOR=0.405	GT:AD:DP:GQ:PL	0/1:38,35:73:99:863,0,958	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	0/1:107,49:156:66:66,0,1970	2	0	19	0
chr20	36194223	36194223	C	T	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon12:c.C1126T:p.R376C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.931	D	0.123	N	1.000	D	0.805	L	-1.81	D	0.305	D	0.618	D	0.58	4.737	26.4	5.21	2.428	4.470	17.755	0.406	0.105834035604	.	.	0.0001	9.684e-05	0	0	0	1.504e-05	0	0.0009	0.00011	17	154602	rs766032605	4.926e-05	4.925e-05	2.995e-05	6.877e-05	0.0006	3.993e-05	3.67e-05	0.0005	0.0004	0	2.236e-05	0	7.557e-05	0	0	8.993e-06	6.627e-05	0.0006	1.314e-05	1.313e-05	2.569e-05	0	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.018	0.58626	D	0.05	0.66756	T	0.998	0.90584	D	0.921	0.66596	D	0.122648	0.18947	N	0.578888	0.999999	0.58761	D	0.975	0.24501	L	-1.89	0.84557	D	-2.02	0.53420	N	0.391	0.48872	0.305	0.87637	D	0.618	0.86518	D	10	0.147625	0.27970	T	0.105834	0.78115	D	0.406	0.71869	0.225	0.14960	0.75793295755	0.75573	0.7229505416326878	0.72239	0.933430420424	0.71932	0.813415586948	0.84017	D	0.472379	0.80468	T	-0.163062	0.26291	T	-0.0887872	0.64253	T	0.859971404075623	0.51049	D	0.949405	0.81930	D	0.13757764	0.31850	0.11401464	0.27520	0.14573051	0.33392	0.11292068	0.27248	-12.796	0.88505	D	0.7314650048341449	0.81315	0.281	0.69304	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.293821	0.88880	29.8	0.9994206105747111	0.99824	0.96196	0.67976	D	AEFDGBI	0.839632	0.75702	D	0.424096095884602	0.62749	4.496162	0.48646742124173	0.67094	5.038052	0.999998087680509	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.755437	0.99637	0	.	.	5.21	5.21	0.72005	4.540000	0.60375	7.672000	0.64834	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.755	0.88356	695	0.58372	.;.;.;.;.;.;.	.	.	.	.	.	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	1634.98	35	chr20	36194223	.	C	T	1634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-02;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.659;SOR=0.658	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1649,0,1430	20	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.888	P	0.765	P	0.000	D	0.974	D	3.09	M	-3.12	D	0.840	D	0.839	D	0.305	3.628	18.46	3.32	1.470	0.392	9.678	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	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	0.09524	354.31	33	chr20	37007453	.	C	G	354.31	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.577e+00;DP=1113;ExcessHet=0.6776;FS=128.460;InbreedingCoeff=-0.1019;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.82;ReadPosRankSum=1.10;SOR=9.383	GT:AD:DP:GQ:PL	0/1:89,17:106:29:29,0,2173	17	0	4	0
chr20	38241493	38241493	C	T	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon3:c.G638A:p.S213N	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.005	B	0.410	N	0.999	N	1.7	L	3.26	T	-1.009	T	0.021	T	0.019	2.127	13.07	-0.12	0.127	0.224	7.615	0.093	0.00390899842245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.088	0.46632	T	0.024	0.19075	B	0.005	0.11217	B	0.410095	0.13008	N	0.719989	0.999165	0.21555	N	1.795	0.47270	L	3.26	0.06681	T	-1.33	0.33197	N	0.05	0.02559	-1.0091	0.27198	T	0.021	0.08963	T	10	0.06333992	0.08236	T	0.003909	0.09211	T	0.093	0.26882	0.154	0.05752	0.124217242631	0.12060	0.29393609298070267	0.29306	0.0398615421782	0.04262	0.279902338982	0.07478	T	0.081197	0.36540	T	-0.404015	0.02179	T	-0.818116	0.01491	T	0.101302100139843	0.12500	T	0.546045	0.18695	T	0.0863439	0.20066	0.094387606	0.22339	0.0863439	0.20066	0.094387606	0.22338	-5.507	0.41933	T	.	.	0.099	0.18289	B	.;.	.;.	1.285994	0.16863	12.81	0.97778148224927397	0.35913	0.46321	0.27734	N	AEFBI	0.281104	0.39476	N	-0.604006222347972	0.18822	0.980349	-0.591107103254491	0.19724	1.059548	0.00440893782532971	0.10539	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.46	-0.12	0.12879	-0.761000	0.04856	-0.680000	0.07891	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.698000	0.34080	0.0:0.5445:0.2378:0.2177	7.615	0.27319	886	0.28090	.;.	.	.	.	.	.	Uncertain significance	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	2504.98	136	chr20	38241493	.	C	T	2504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.136e+00;DP=2466;ExcessHet=0.0000;FS=7.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-2.062e+00;SOR=1.001	GT:AD:DP:GQ:PL	0/1:100,95:195:99:2519,0,2819	20	0	1	0
chr20	39030771	39030771	C	T	exonic	DHX35	.	nonsynonymous SNV	DHX35:NM_001190809:exon19:c.C1858T:p.R620C	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.663	P	0.000	D	1.000	D	1.845	L	4.14	T	-1.045	T	0.086	T	0.674	4.394	23.3	5.76	2.882	3.270	13.995	0.185	0.0311094178089	0.0003	0.000399361	0.0004	0	0.0008	0	0.0002	0.0005	0.0011	0.0007	0.0004722	73	154602	rs149376135	0.0005	0.0005	0.0005	0.0005	0.0082	0.0004	0.0004	0.0064	0.0057	0.0003	0.0012	0	0	3.745e-05	0.0082	0.0004	0.0012	0.0003	0.0008	0.0008	0.0005	0.0010	0.0044	0.0007	0.0006	0.0035	0.0032	0.0002	0	0.0044	0	0	0	0.0170	0.0004	0.0028	0.0002	0.005	0.65419	D	0.007	0.70582	D	0.996	0.68779	D	0.663	0.52893	P	0.000001	0.84330	D	0.055461	0.99999	0.81001	D	2.27	0.64531	M	4.14	0.31470	T	-2.88	0.71639	D	0.768	0.76853	-1.0449	0.15854	T	0.086	0.33298	T	10	0.035627663	0.01821	T	0.031109	0.53269	D	0.185	0.45933	.	.	0.524584940466	0.52104	0.4927267042088936	0.49193	0.507355003274	0.48918	0.643406152725	0.59049	T	0.135099	0.46672	T	-0.278656	0.10811	T	-0.213579	0.53351	T	0.120822916304542	0.14510	T	0.991801	0.97430	D	0.3379587	0.56116	0.21346766	0.45858	0.3379587	0.56116	0.21346766	0.45857	-8.161	0.62162	D	.	.	0.197	0.48345	B	.;.;.	.;.;.	5.392382	0.90332	31	0.99921280393138567	0.98787	0.86655	0.45982	D	AEFBI	0.439272	0.49832	N	0.618760058221753	0.74362	6.120	0.648796367787035	0.78519	6.893043	0.999988502007534	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.76	5.76	0.90726	3.599000	0.53795	5.930000	0.51304	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.961000	0.51904	0.1516:0.8484:0.0:0.0	13.995	0.63907	929	0.16858	Domain of unknown function DUF1605;.;Domain of unknown function DUF1605	.	.	.	.	.	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	970.98	36	chr20	39030771	.	C	T	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=832;ExcessHet=0.0000;FS=0.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.70;ReadPosRankSum=-2.486e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/1:97,48:145:99:985,0,2241	20	0	1	0
chr20	45911398	45911398	A	G	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon2:c.T55C:p.F19L	.	.	410	1101	11	0	0	11	0.00497063	.	.	1398427	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	0.126	N	1.000	N	-0.69	N	3.32	T	-0.907	T	0.008	T	0.058	1.132	9.612	0.154	0.248	0.505	8.845	0.019	0.0175334079198	0.0011	.	0.0009	0	0.0006	0	0.0003	0.0013	0.0011	0.0005	0.0008603	133	154602	rs151157782	0.0009	0.0009	0.0009	0.0009	0.0064	0.0008	0.0008	0.0048	0.0042	8.961e-05	0.0009	3.827e-05	0	0.0003	0.0064	0.0009	0.0011	0.0007	0.0008	0.0009	0.0008	0.0008	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0.0022	0.0009	0	0	0.0002	0.0103	0.0014	0.0024	0.0004	0.8	0.03857	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.126087	0.18818	N	0.584072	0.99774	0.22531	N	-1.1	0.00987	N	3.32	0.08194	T	-0.18	0.09796	N	0.071	0.04426	-0.9070	0.47215	T	0.008	0.02679	T	10	0.009560227	0.00215	T	0.017533	0.39265	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.18551132663453296	0.18469	0.209172351844	0.23389	0.524680316448	0.42286	T	0.148137	0.48654	T	-0.656516	0.00066	T	-0.751194	0.03439	T	0.0133911104550311	0.00242	T	0.560444	0.22282	T	0.05517205	0.10687	0.07135434	0.15271	0.05517205	0.10686	0.07135434	0.15271	-1.887	0.02781	T	.	.	0.152	0.34361	B	.;.;.;.	.;.;.;.	1.810042	0.23000	15.85	0.83353672026949743	0.14680	0.42993	0.27000	N	ALL	0.062951	0.12134	N	-0.921091452221207	0.10350	0.4941398	-0.719688291930103	0.16471	0.8714683	0.99999999995488	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.2	0.154	0.14196	0.689000	0.25118	3.115000	0.36376	-0.156000	0.11795	0.991000	0.37257	1.000000	0.68203	0.959000	0.51448	0.0773:0.0:0.4171:0.5056	8.845	0.34325	737	0.53483	.;.;.;.	.	.	.	.	.	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	1531.11	67	chr20	45911398	.	A	G	1531.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.49;DP=834;ExcessHet=0.1072;FS=0.618;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-1.210e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/1:57,37:94:99:880,0,1501	19	0	2	0
chr20	46726040	46726040	C	T	exonic	SLC2A10	.	nonsynonymous SNV	SLC2A10:NM_030777:exon2:c.C1004T:p.A335V,	Arterial tortuosity syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.112	B	0.058	B	0.054	N	1.000	N	0	N	-1.57	D	-0.767	T	0.319	T	0.194	0.578	7.124	2.79	0.350	0.533	8.157	0.198	0.0353379705645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.14449	T	0.085	0.41074	T	0.112	0.26290	B	0.058	0.26451	B	0.054103	0.02057	N	1.934820	1	0.08975	N	0.345	0.11182	N	-1.57	0.81900	D	-0.55	0.16799	N	0.114	0.10198	-0.7673	0.57006	T	0.319	0.68805	T	10	0.11056888	0.20671	T	0.035338	0.56278	D	0.198	0.48105	0.423	0.46693	0.768769773599	0.76665	0.3191170767354815	0.31824	0.0996061284925	0.11245	0.350248515606	0.17958	T	0.108362	0.42134	T	-0.0909696	0.37916	T	-0.368448	0.37071	T	0.102446092750896	0.12624	T	0.763824	0.39073	T	0.038723227	0.05215	0.053621806	0.09069	0.038723227	0.05214	0.053621806	0.09068	-4.694	0.33331	T	.	.	0.088	0.11461	B	.	.	1.527614	0.19602	14.35	0.97147334568532895	0.32568	0.38271	0.25951	N	AEFDBI	0.160113	0.28600	N	-0.68148673828274	0.16550	0.844171	-0.572413345332566	0.20213	1.088021	0.0017464653781188	0.08839	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.86	2.79	0.31792	0.801000	0.26716	0.553000	0.19438	0.599000	0.40250	0.012000	0.18695	0.075000	0.22287	0.242000	0.23054	0.0:0.4976:0.3692:0.1332	8.157	0.30339	961	0.08552	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	0.02381	1994.98	34	chr20	46726040	.	C	T	1994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.033e+00;DP=885;ExcessHet=0.0000;FS=2.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=-8.130e-01;SOR=0.916	GT:AD:DP:GQ:PL	0/1:57,74:131:99:2009,0,1552	20	0	1	0
chr20	56445928	56445928	G	C	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon3:c.G326C:p.R109P	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.921	D	0.106	N	1.000	N	2.125	M	2.43	T	-1.046	T	0.106	T	0.408	3.195	16.70	-0.5	0.053	0.030	2.681	0.097	0.012402183307	0.0002	0.00139776	0.0013	9.626e-05	0.0002	0	0.0003	0.0004	0.0045	0.0077	0.0011513	178	154602	rs149841530	0.0007	0.0007	0.0004	0.0009	0.0082	0.0006	0.0006	0.0077	0.0075	0.0005	8.944e-05	0.0028	0	1.878e-05	0.0036	8.363e-05	0.0011	0.0082	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	4.818e-05	0	0	0.0038	0	0	0	0.0002	0	0.0066	0.014	0.53172	D	0.213	0.51421	T	0.986	0.77913	D	0.769	0.65636	P	0.105942	0.02592	N	1.740750	1	0.08975	N	2.215	0.62545	M	2.43	0.21865	T	-3.57	0.68999	D	0.166	0.19459	-1.0460	0.15534	T	0.106	0.38636	T	10	0.0065027773	0.00147	T	0.012402	0.30939	T	0.097	0.27909	.	.	0.168933306366	0.16529	0.42310685389067393	0.42227	.	.	0.239176526666	0.02717	T	0.13167	0.46130	T	-0.487838	0.00668	T	-0.468535	0.25674	T	0.0947952644140671	0.11774	T	0.763224	0.39853	T	0.30827567	0.53636	0.22834937	0.47874	0.30827567	0.53636	0.22834937	0.47873	-3.345	0.14325	T	.	.	0.127	0.27100	B	.;.	.;.	1.604234	0.20508	14.78	0.9867108982920203	0.44470	0.15935	0.19152	N	AEFDBCI	0.187868	0.31515	N	-0.308841378077718	0.28811	1.592291	-0.540583565487438	0.21056	1.137306	0.999942353432912	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	-0.5	0.11412	-0.026000	0.12340	-1.365000	0.05612	-0.109000	0.15193	0.010000	0.18352	0.000000	0.08366	0.002000	0.04165	0.2201:0.1235:0.5296:0.1268	2.681	0.04777	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	1881.98	34	chr20	56445928	.	G	C	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.931e+00;DP=913;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=-1.070e+00;SOR=0.715	GT:AD:DP:GQ:PL	0/1:112,89:201:99:1896,0,2773	20	0	1	0
chr20	59023753	59023753	G	A	exonic	TUBB1	.	nonsynonymous SNV	TUBB1:NM_030773:exon4:c.G326A:p.G109E,	Macrothrombocytopenia, autosomal dominant, TUBB1-related, Autosomal dominant	YES	0	1520	2	0	0	2	0.000657462	.	.	615619	Macrothrombocytopenia|Thrombocytopenia|not_provided|Macrothrombocytopenia,_isolated,_1,_autosomal_dominant|TUBB1-related_disorder	Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260|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|MedGen:C3661900|MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	5.38	H	-0.97	T	1.012	D	0.819	D	0.979	3.400	17.48	5.39	2.537	9.824	18.114	0.779	0.170336658744	0.0011	0.000798722	0.0009	0.0002	8.637e-05	0	0.0006	0.0015	0	6.056e-05	0.0008797	136	154602	rs41303899	0.0013	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0004	8.944e-05	3.826e-05	0	0.0007	0.0005	0.0015	0.0008	2.319e-05	0.0009	0.0009	0.0009	0.0009	0.0015	0.0008	0.0007	0.0013	0.0012	0.0002	0	0.0005	0	0.0002	0.0008	0	0.0015	0.0014	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.235	0.99964	H	-0.97	0.75670	T	-5.37	0.84882	D	0.917	0.91968	1.012	0.97387	D	0.819	0.93912	D	10	0.5017678	0.61589	D	0.170337	0.84792	D	0.779	0.92623	.	.	0.949475789329	0.94894	0.9180012566344369	0.91776	0.863764543004	0.69092	0.794248580933	0.81088	T	0.666875	0.90068	D	0.0964125	0.63902	D	0.346699	0.90185	D	0.214118916495516	0.21166	T	0.873013	0.58094	D	0.9470945	0.95970	0.9291467	0.97036	0.93230987	0.94468	0.93363816	0.97344	-12.216	0.85887	D	0.7529831719877856	0.83504	0.996	0.95995	P	.	.	4.313908	0.65970	24.9	0.99762127289978564	0.85172	0.98171	0.80217	D	AEFBCI	0.921223	0.89438	D	1.11622411434772	0.98423	18.23768	0.926331347383901	0.96621	14.92586	1.0	0.98316	0.498214	0.20090	0	0.379588	0.06130	0	0.572659	0.19721	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	10.003000	0.99689	11.851000	0.98077	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.095000	0.18041	0.0:0.0:1.0:0.0	18.114	0.89476	973	0.05605	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase 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	2544.98	37	chr20	59023753	.	G	A	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=880;ExcessHet=0.0000;FS=3.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-1.616e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/1:80,89:169:99:2559,0,2121	20	0	1	0
chr20	59939376	59939376	C	T	exonic	PPP1R3D	.	nonsynonymous SNV	PPP1R3D:NM_006242:exon1:c.G556A:p.D186N,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.997	D	0.951	D	0.000	D	1.000	D	1.76	L	0.02	T	-0.617	T	0.329	T	0.041	4.947	28.7	5.22	2.432	4.675	14.300	0.239	0.0500333142314	.	0.000199681	0.0001	0	9.176e-05	0	0	1.698e-05	0.0013	0.0007	9.7e-05	15	154602	rs539093057	4.663e-05	4.652e-05	2.32e-05	7.029e-05	0.0010	3.737e-05	3.42e-05	0.0005	0.0003	0	2.24e-05	0	0	0	0.0010	8.996e-06	0.0001	0.0005	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0004	5.24e-06	2.45e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.175	0.22400	T	0.174	0.30045	T	0.997	0.70673	D	0.951	0.68939	D	0.000095	0.51296	D	0.075448	1	0.81001	D	2.475	0.71894	M	0.02	0.62318	T	-2.26	0.50502	N	0.188	0.20528	-0.6172	0.64105	T	0.329	0.69690	T	10	0.12306312	0.23355	T	0.050033	0.64070	D	0.239	0.54358	0.447	0.50629	0.747169402473	0.74489	0.24969765005284084	0.24883	1.15709495446	0.79382	0.661203384399	0.61582	T	0.094988	0.39528	T	-0.438652	0.01317	T	-0.492024	0.23180	T	0.27850666642189	0.24108	T	0.873313	0.58144	D	0.17689697	0.38626	0.13931072	0.33243	0.17689697	0.38626	0.13931072	0.33242	-9.029	0.67884	D	.	.	0.375	0.58108	A	.	.	5.299642	0.88975	29.8	0.99878981282521662	0.95572	0.95627	0.65481	D	AEFDGBHCI	0.641873	0.61905	D	0.514183067896599	0.67927	5.147597	0.519776391079859	0.69322	5.343836	0.99999999998478	0.74766	0.652421	0.48094	0	0.405561	0.06353	1	0.64067	0.45733	0	0.604282	0.37693	0	.	.	5.22	5.22	0.72285	4.779000	0.62068	7.425000	0.58746	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2208:0.7792:0.0:0.0	14.300	0.65895	993	0.01300	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) 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	2583.98	37	chr20	59939376	.	C	T	2583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=925;ExcessHet=0.0000;FS=0.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.434;SOR=0.764	GT:AD:DP:GQ:PL	0/1:126,105:231:99:2598,0,3276	20	0	1	0
chr20	62332705	62332705	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon27:c.C3295T:p.L1099F,	.	.	392	1103	26	1	0	28	0.0125336	.	.	742515	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.116	B	0.083	B	0.005	U	1.000	D	1.565	L	2.02	T	-1.062	T	0.022	T	0.315	1.634	11.42	2.15	2.177	1.065	6.606	0.077	.	0.0047	0.00179712	0.0052	0.0011	0.0005	0	0.0028	0.0058	0.0051	0.0123	0.0046507	719	154602	rs138521932	0.0051	0.0051	0.0049	0.0053	0.0112	0.0050	0.0050	0.0106	0.0104	0.0007	0.0004	0.0023	0	0.0028	0.0023	0.0054	0.0033	0.0112	0.0036	0.0036	0.0036	0.0036	0.0091	0.0034	0.0033	0.0070	0.0062	0.0011	0	0.0007	0.0009	0	0.0030	0.0034	0.0060	0.0033	0.0091	0.005	0.63226	D	0.058	0.46182	T	0.116	0.26475	B	0.083	0.29179	B	0.005017	0.33181	U	0.252544	0.996623	0.43315	D	2.6	0.76081	M	2.02	0.21119	T	-1.51	0.36787	N	0.428	0.46742	-1.0619	0.11288	T	0.022	0.09375	T	10	0.0060425103	0.00136	T	.	.	.	0.077	0.22490	.	.	0.512317527237	0.50874	0.48978303542408574	0.48898	.	.	0.536268591881	0.43919	T	0.038298	0.24789	T	-0.464736	0.00918	T	-0.430943	0.29827	T	0.0241763124399717	0.01167	T	0.674733	0.28305	T	0.1077627	0.25482	0.08947208	0.20926	0.1077627	0.25482	0.08947208	0.20925	-10.123	0.74645	D	.	.	0.162	0.35726	B	.	.	3.484875	0.48678	22.7	0.99417254343608985	0.63597	0.85202	0.44314	D	AEFBCI	0.268090	0.38466	N	-0.245247463589705	0.31293	1.75325	-0.180918109948441	0.32238	1.832165	0.899942966586355	0.26063	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.23	2.15	0.26590	1.274000	0.32736	5.377000	0.48445	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	0.1662:0.1566:0.6773:0.0	6.606	0.21918	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	838.98	45	chr20	62332705	.	G	A	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.190e-01;DP=922;ExcessHet=0.0000;FS=0.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=-2.120e-01;SOR=0.529	GT:AD:DP:GQ:PL	0/1:56,36:92:99:853,0,1474	20	0	1	0
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	0/1:5,6,0:11:99:.:.:215,0,128,230,146,375	4	1	4	10
chr20	62896738	62896738	G	A	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon7:c.C1847T:p.P616L	.	.	421	1069	32	0	0	32	0.0147465	.	.	2824601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.001	B	0.269	N	1.000	N	-0.535	N	2.99	T	-0.961	T	0.009	T	0.077	-0.349	2.352	2.19	0.155	1.389	3.938	0.023	0.0161839697626	0.0012	0.00179712	0.0017	0	0.0009	0.0001	0	0.0020	0.0033	0.0033	0.0015718	243	154602	rs141286941	0.0013	0.0013	0.0012	0.0015	0.0243	0.0013	0.0013	0.0210	0.0198	0.0002	0.0013	0.0036	7.558e-05	1.882e-05	0.0243	0.0011	0.0022	0.0031	0.0014	0.0014	0.0015	0.0014	0.0035	0.0013	0.0012	0.0022	0.0018	0.0002	0	0.0017	0.0032	0	0	0.0170	0.0021	0.0043	0.0035	0.29	0.15303	T	0.447	0.15602	T	0.001	0.09854	B	0.0	0.04355	B	0.268630	0.15171	N	0.467007	1	0.08975	N	0.05	0.08135	N	2.99	0.13095	T	-2.02	0.49846	N	0.042	0.01911	-0.9607	0.39050	T	0.009	0.03096	T	10	0.003640741	0.00066	T	0.016184	0.37308	T	0.023	0.04649	.	.	0.082315109003	0.07666	0.17859476949119857	0.17778	0.376070962561	0.39050	0.312232494354	0.12243	T	0.120741	0.44321	T	-0.691157	0.00041	T	-0.768626	0.02813	T	0.00609465993545652	0.00067	T	0.69563	0.30512	T	0.029675107	0.02500	0.033476338	0.02250	0.029675107	0.02500	0.033476338	0.02250	-4.871	0.35407	T	.	.	0.059	0.01622	B	.;.;.	.;.;.	1.165825	0.15551	11.93	0.51831254512982572	0.04635	0.04233	0.09754	N	AEFDBCI	0.024205	0.01462	N	-1.17664540079205	0.05354	0.2438813	-1.11156375339998	0.07478	0.3639165	0.993926152137287	0.33413	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.58	2.19	0.26890	0.854000	0.27445	3.603000	0.39228	-0.135000	0.12811	0.065000	0.21925	0.972000	0.29809	0.001000	0.02609	0.6774:0.0:0.1332:0.1894	3.938	0.08811	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	0.04762	3648.11	72	chr20	62896738	.	G	A	3648.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.22;DP=2002;ExcessHet=0.1072;FS=3.446;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.835;SOR=0.597	GT:AD:DP:GQ:PL	0/1:61,70:131:99:2043,0,1604	19	0	2	0
chr20	63693266	63693266	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon29:c.C2306T:p.P769L	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	.	435	1059	27	1	0	29	0.0135072	.	.	430403	not_specified|not_provided|RTEL1-related_disorder|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3|Dyskeratosis_congenita,_autosomal_recessive_5|Dyskeratosis_congenita	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.119	B	0.016	B	0.048	N	1.000	N	-0.55	N	1.01	T	-0.815	T	0.210	T	0.209	0.674	7.606	2.6	1.021	-0.090	2.886	0.168	0.139368554332	0.0005	0.00159744	0.0015	0.0012	0.0013	0	0.0005	0.0009	0.0011	0.0058	0.0013648	211	154602	rs143967591	0.0011	0.0011	0.0010	0.0012	0.0096	0.0011	0.0010	0.0075	0.0068	0.0006	0.0012	3.833e-05	0.0003	0.0006	0.0096	0.0008	0.0016	0.0058	0.0009	0.0009	0.0010	0.0009	0.0039	0.0008	0.0008	0.0026	0.0021	0.0011	0	0.0010	0.0003	0.0004	0.0006	0.0034	0.0007	0.0024	0.0039	0.467	0.08559	T	0.529	0.11335	T	0.0	0.02946	B	0.0	0.04355	B	0.047948	0.01979	N	2.248960	1	0.08975	N	-0.205	0.04094	N	-1.43	0.80730	T	-0.83	0.22727	N	0.116	0.15609	-0.8145	0.54275	T	0.210	0.56946	T	10	0.00494954	0.00106	T	0.139369	0.82185	D	0.168	0.42943	.	.	0.362933182269	0.35899	0.2539474739144245	0.25308	.	.	0.239184051752	0.02718	T	0.10823	0.42109	T	-0.465828	0.00903	T	-0.439156	0.28903	T	0.0011363816984353	0.00011	T	0.686731	0.29555	T	0.02644599	0.01702	0.022959659	0.00313	0.029458098	0.02445	0.0238321	0.00396	-4.261	0.31538	T	.	.	0.074	0.06341	B	.;.;.;.	.;.;.;.	0.401937	0.07734	4.412	0.81152595751285961	0.13545	0.02960	0.07796	N	AEFDGBCI	0.046712	0.07786	N	-1.0342140388468	0.07900	0.3686039	-0.98034880072449	0.10227	0.5137404	0.995874279844285	0.34380	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.82	2.6	0.30173	-0.461000	0.06789	-0.549000	0.08539	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4287:0.2354:0.3359	2.886	0.05314	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	2655.11	38	chr20	63693266	.	C	T	2655.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=932;ExcessHet=0.1072;FS=1.818;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.414e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1401,0,1411	19	0	2	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R	.	.	2	1414	97	9	0	115	0.0390758	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.999	D	0.425	N	0.973	D	1.935	M	1.31	T	-0.938	T	0.135	T	0.501	3.134	16.48	3.23	1.287	0.298	9.699	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor 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	944.98	41	chr21	33252732	.	C	G	944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=919;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=-2.900e-02;SOR=0.593	GT:AD:DP:GQ:PL	0/1:71,44:115:99:959,0,1588	20	0	1	0
chr21	39196650	39196650	A	G	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon41:c.T6419C:p.I2140T	.	.	423	1098	0	1	0	2	0.000909918	.	.	3211971	BRWD1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	0.071	N	1.000	N	0.95	L	0.71	T	-1.069	T	0.068	T	0.07	-0.095	3.536	-4.26	-0.249	-1.031	2.114	0.043	0.00728647581649	.	0.000998403	0.0013	9.623e-05	0	0	0	0	0.0011	0.0093	0.0010543	163	154602	rs572562994	0.0005	0.0005	0.0003	0.0008	0.0086	0.0005	0.0005	0.0081	0.0079	2.989e-05	0	0	0	0	0.0002	0	0.0004	0.0086	0.0003	0.0003	0.0002	0.0004	0.0085	0.0002	0.0002	0.0064	0.0057	0	0	0	0	0	0	0	0	0	0.0085	0.286	0.15201	T	0.5	0.11968	T	0.0	0.02946	B	0.0	0.01387	B	0.071423	0.02254	N	1.936560	1	0.08975	N	1.245	0.31408	L	0.62	0.53302	T	-0.33	0.13418	N	0.015	0.00407	-1.0689	0.09657	T	0.068	0.27743	T	10	0.0028728843	0.00046	T	0.007286	0.19334	T	0.043	0.11576	0.103	0.01643	0.0934897674506	0.08844	0.015968519745721704	0.01552	0.0805092204128	0.09062	0.248701900244	0.03632	T	0.044783	0.26921	T	-0.619609	0.00111	T	-0.656688	0.08491	T	0.0116806819522908	0.00179	T	0.542646	0.18460	T	0.03670323	0.04566	0.025665604	0.00620	0.03670323	0.04565	0.025665604	0.00619	-2.992	0.10095	T	.	.	0.087	0.29339	B	.;.;.	.;.;.	-0.804126	0.01098	0.049	0.55127164880467583	0.05278	0.00821	0.03316	N	AEDBI	0.017403	0.00454	N	-1.13136372049719	0.06091	0.2795206	-1.14940672599191	0.06778	0.3274497	0.99999209854593	0.74766	0.729952	0.87565	0	0.615513	0.52658	0	0.608884	0.39905	0	0.692231	0.68500	0	.	.	5.38	-4.26	0.03497	-1.012000	0.03759	-2.441000	0.03750	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.1678:0.2859:0.3808:0.1654	2.114	0.03484	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2188.98	35	chr21	39196650	.	A	G	2188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.413;DP=847;ExcessHet=0.0000;FS=4.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.550;SOR=0.809	GT:AD:DP:GQ:PL	0/1:73,80:153:99:2203,0,2044	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	0/1:76,73:149:99:1802,0,1746	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|1:79,8:87:27:0|1:41918930_C_G:27,0,3158:41918930	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|1:80,8:88:24:0|1:41918930_C_G:24,0,3174:41918930	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|1:79,8:87:27:0|1:41918930_C_G:27,0,3152:41918930	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|1:79,8,0:87:27:0|1:41918930_C_G:27,0,3152,264,3176,3441:41918930	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|1:79,8,0:87:27:0|1:41918930_C_G:27,0,3152,264,3176,3441:41918930	16	0	4	0
chr21	42447191	42447191	C	G	exonic	UBASH3A	.	nonsynonymous SNV	UBASH3A:NM_001001895:exon14:c.C1869G:p.N623K	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.021	B	0.015	B	0.954	N	1.000	N	0	N	3.12	T	-1.018	T	0.013	T	0.045	2.049	12.81	2.99	2.296	0.854	4.374	0.069	0.00641877214729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.51853	D	0.027	0.56192	D	0.02	0.18474	B	0.015	0.17295	B	0.953725	0.07673	N	1.020780	1	0.08975	N	1.1	0.28011	L	3.12	0.08106	T	-0.78	0.21644	N	0.197	0.21710	-1.0175	0.24528	T	0.013	0.04890	T	10	0.07120994	0.10466	T	0.006419	0.16899	T	0.069	0.20116	0.308	0.27967	0.224531998449	0.22054	0.19907970655467916	0.19824	0.169225446996	0.19074	0.415905237198	0.27272	T	0.109562	0.42354	T	-0.360329	0.04111	T	-0.755364	0.03281	T	0.0943991676763703	0.11729	T	0.514149	0.16548	T	0.13296117	0.30942	0.08672087	0.20110	0.13296117	0.30942	0.08672087	0.20109	-3.782	0.22182	T	.	.	0.119	0.29833	B	.;.	.;.	2.048797	0.26049	16.98	0.97946355163312848	0.37071	0.29158	0.23747	N	AEFBI	0.127026	0.24422	N	-0.676098471541903	0.16704	0.8533802	-0.612975555649619	0.19160	1.026748	0.90072329764959	0.26083	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.98	2.99	0.33673	0.468000	0.21763	2.975000	0.35815	0.599000	0.40250	0.223000	0.24568	0.996000	0.32793	0.070000	0.16646	0.1903:0.6334:0.0:0.1763	4.374	0.10697	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	1211.98	33	chr21	42447191	.	C	G	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=786;ExcessHet=0.0000;FS=2.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-1.306e+00;SOR=1.038	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1226,0,1119	20	0	1	0
chr21	44330203	44330203	C	T	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271440:exon7:c.G763A:p.E255K	.	.	.	.	.	.	.	.	.	.	.	1342522	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.695	P	0.177	B	0.743	N	1.000	N	1.39	L	1.65	T	-0.951	T	0.087	T	0.339	2.483	14.26	-1.3	0.069	0.693	11.242	0.075	0.0271379695357	.	.	4.555e-05	0	0.0010	0	0	0	0	0	6.5e-06	1	154602	rs766177483	1.203e-05	1.436e-05	5.609e-06	1.858e-05	0.0001	7.33e-06	5.99e-06	5.697e-05	4.26e-05	0	2.573e-05	0	5.361e-05	2.378e-05	0	3.663e-06	0	0.0001	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.022	0.57587	D	0.569	0.38523	P	0.086	0.29521	B	0.742591	0.06437	N	1.141290	1	0.08975	N	.	.	.	1.65	0.39401	T	-1.05	0.27463	N	0.293	0.37197	-0.9506	0.40868	T	0.087	0.33857	T	10	0.098065525	0.17706	T	0.027138	0.49983	D	0.075	0.21907	0.313	0.28774	0.21737058555	0.21362	0.12967920127339103	0.12892	0.0747609555444	0.08389	.	.	.	0.016743	0.13781	T	-0.304841	0.08211	T	-0.415981	0.31537	T	0.0817258717194605	0.10207	T	0.563744	0.19863	T	0.094886206	0.22319	0.0979178	0.23324	0.094886206	0.22319	0.0979178	0.23324	-6.39	0.49432	T	.	.	0.086	0.12560	B	.;.;.	.;.;.	2.449003	0.31530	18.77	0.97955450222514562	0.37136	0.68956	0.33999	D	AEFDBHCI	0.097777	0.19715	N	-0.694731171268233	0.16171	0.8215169	-0.780907496367059	0.14963	0.7845951	0.998697242298463	0.37477	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.85	-1.3	0.08777	0.913000	0.28233	0.935000	0.22809	-0.838000	0.02813	0.943000	0.32764	0.303000	0.24231	0.002000	0.04165	0.1335:0.2346:0.6319:0.0	11.242	0.48205	929	0.16858	.;.;.	.	.	.	.	.	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	999.98	33	chr21	44330203	.	C	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.967;DP=771;ExcessHet=0.0000;FS=8.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.71;ReadPosRankSum=-2.210e-01;SOR=1.773	GT:AD:DP:GQ:PL	0/1:32,36:68:99:1014,0,828	20	0	1	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|1:0,148,0:148:99:1|1:44558616_T_G:6432,445,0,6432,445,6432:44558616	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|1:0,143,0:143:99:1|1:44558616_T_G:6282,430,0,6282,430,6282:44558616	0	17	3	0
chr21	44592106	44592106	A	0	exonic	KRTAP10-6	.	.	.	.	.	444	939	103	35	1	174	0.0843491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	4312.68	36	chr21	44592106	.	A	G,*	4312.68	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=7.63;DP=2486;ExcessHet=0.9430;FS=27.882;InbreedingCoeff=0.0102;MLEAC=8,1;MLEAF=0.190,0.024;MQ=47.62;MQRankSum=-8.105e+00;QD=2.89;ReadPosRankSum=-1.139e+00;SOR=2.591	GT:AD:DP:GQ:PL	0/1:159,55,0:214:99:1108,0,3870,1582,4034,5616	13	0	7	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	0/2:169,0,161:330:99:6210,6796,14269,0,7003,6422	3	1	0	1
chr21	46287083	46287083	G	A	exonic	YBEY	.	nonsynonymous SNV	YBEY:NM_001006114:exon2:c.G170A:p.R57K	.	.	441	1077	4	0	0	4	0.00185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.185	N	1.000	N	-0.915	N	.	.	-0.967	T	0.019	T	0.038	-0.209	2.987	1.57	0.360	0.714	5.513	0.059	0.00158803480406	7.7e-05	.	0.0001	9.643e-05	0	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs370957005	9.787e-05	9.85e-05	8.988e-05	0.0001	0.0005	8.448e-05	7.925e-05	0.0003	0.0003	5.976e-05	8.962e-05	0	0	1.874e-05	0.0005	8.186e-05	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	7.626e-05	6.322e-05	0.0001	8.894e-05	2.426e-05	0	6.609e-05	0	0	0	0.0034	0.0002	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.184981	0.17001	N	0.581856	1	0.08975	N	-1.69	0.00363	N	.	.	.	0.65	0.02332	N	0.059	0.04547	-0.9673	0.37754	T	0.019	0.07939	T	9	0.021210015	0.00503	T	0.001588	0.02548	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.40139852566754197	0.40054	0.148798595494	0.16780	0.227173686028	0.01766	T	0.00505	0.04483	T	-0.568653	0.00225	T	-0.748631	0.03540	T	0.0148415500447413	0.00313	T	0.488951	0.15001	T	0.026587918	0.01736	0.027213858	0.00859	0.026587918	0.01736	0.027213858	0.00859	0.604	0.09611	T	.	.	0.084	0.12560	B	.;.;.;.	.;.;.;.	0.165295	0.05550	2.010	0.53775117034777775	0.05005	0.03896	0.09272	N	AEFBHCI	0.038111	0.05345	N	-1.43001432609419	0.02378	0.1049667	-1.3343336506405	0.03994	0.1874721	0.999716832213657	0.42101	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.35	1.57	0.22490	0.755000	0.26070	0.325000	0.17225	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.944000	0.48669	0.691:0.1458:0.1632:0.0	5.513	0.16178	952	0.10565	.;.;.;.	.	.	.	.	.	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	1157.98	41	chr21	46287083	.	G	A	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=788;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.422e+00;SOR=0.947	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1172,0,1122	20	0	1	0
chr22	15698739	15698743	AAATT	-	exonic	POTEH	.	frameshift deletion	POTEH:NM_001136213:exon4:c.999_1003del:p.N334Kfs*5,	.	.	452	1065	5	0	0	5	0.00234192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0001	0.0010	0	0	0.0003	0	6.059e-05	0.0003842	10	26028	rs753176584	0.0001	0.0050	0.0001	0.0001	0.0023	0.0001	0.0001	0.0020	0.0018	3.001e-05	0.0023	0.0002	0.0003	0.0002	0	5.619e-05	0.0001	0.0001	0.0007	0.0089	0.0005	0.0009	0.0040	0.0006	0.0006	0.0032	0.0029	0.0002	0.0048	0.0040	0.0003	0.0002	0.0008	0	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1048.94	181	chr22	15698738	.	CAAATT	C	1048.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=4597;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.61;MQRankSum=-5.753e+00;QD=0.83;ReadPosRankSum=-1.121e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:1160,109:1269:99:1063,0,47996	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,188:188:99:.:.:5640,563,0	3	11	7	0
chr22	21001287	21001287	C	G	exonic	THAP7	.	nonsynonymous SNV	THAP7:NM_030573:exon2:c.G205C:p.E69Q	.	.	413	1080	28	1	0	30	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.959	D	0.005	N	0.985	D	0.885	L	-4.04	D	0.868	D	0.878	D	0.645	4.858	27.7	5.32	2.775	2.002	16.538	0.495	.	0.0029	0.00359425	0.0042	0.0008	0.0022	0.0001	0.0005	0.0044	0.0022	0.0103	0.0038292	592	154602	rs145388226	0.0037	0.0037	0.0033	0.0041	0.0153	0.0036	0.0036	0.0127	0.0117	0.0004	0.0021	0.0052	0	0.0004	0.0153	0.0035	0.0050	0.0107	0.0029	0.0029	0.0030	0.0029	0.0100	0.0027	0.0026	0.0077	0.0069	0.0005	0	0.0036	0.0066	0	0.0003	0.0170	0.0042	0.0019	0.0100	0.071	0.35165	T	0.065	0.44702	T	0.999	0.77913	D	0.959	0.70163	D	0.005322	0.32892	N	0.207655	0.984501	0.40154	D	1.86	0.49225	L	-4.04	0.96465	D	-1.0	0.26422	N	0.51	0.54147	0.868	0.95255	D	0.878	0.95945	D	10	0.011849105	0.00257	T	.	.	.	0.495	0.78036	.	.	0.928443736517	0.92771	0.5106856479628384	0.50990	1.04383462817	0.75888	0.704212069511	0.67754	T	0.470217	0.80343	T	-0.0868601	0.38593	T	0.11185	0.77694	D	0.0140772103541453	0.00273	T	0.733327	0.34901	T	0.17945296	0.39017	0.0818451	0.18634	0.17945296	0.39017	0.0818451	0.18634	-6.156	0.47566	T	.	.	0.173	0.39630	B	.;.	.;.	4.919085	0.81005	27.4	0.99763001721582423	0.85254	0.82732	0.41920	D	AEFDGBHCI	0.284901	0.39765	N	0.501033597613452	0.67151	5.043596	0.531477224639649	0.70120	5.45857	0.999999999999998	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	5.32	5.32	0.75377	2.065000	0.41068	7.533000	0.59948	0.599000	0.40250	0.928000	0.32210	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.538	0.84226	851	0.35303	THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger;THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	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	1273.98	33	chr22	21001287	.	C	G	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.587;DP=798;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.326e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1288,0,1260	20	0	1	0
chr22	21931260	21931260	G	A	exonic	PPM1F	.	nonsynonymous SNV	PPM1F:NM_014634:exon6:c.C779T:p.A260V,	.	.	414	1103	5	0	0	5	0.00226142	.	.	2102869	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.57	T	0.058	B	0.047	B	0.053	N	1.000	N	1.135	L	2.15	T	-0.991	T	0.012	T	0.249	-0.943	0.355	0.412	0.090	1.555	8.611	0.024	.	0.0062	0.00559105	0.0019	0.0179	0.0010	0	0	0.0002	0	0.0013	0.0017723	274	154602	rs61730100	0.0007	0.0007	0.0008	0.0006	0.0205	0.0007	0.0007	0.0192	0.0187	0.0205	0.0010	3.826e-05	2.519e-05	0	0.0021	0.0001	0.0013	0.0010	0.0057	0.0057	0.0059	0.0054	0.0197	0.0054	0.0052	0.0186	0.0181	0.0197	0	0.0015	0	0	9.416e-05	0.0034	0.0002	0.0019	0.0010	0.642	0.07695	T	1.0	0.05128	T	0.033	0.21875	B	0.032	0.24832	B	0.052549	0.22884	N	0.483914	0.999976	0.18612	N	0.46	0.12951	N	2.15	0.19311	T	0.32	0.04947	N	0.39	0.43610	-0.9907	0.32424	T	0.012	0.04558	T	10	0.0197711	0.00446	T	.	.	.	0.024	0.04979	.	.	0.206339911435	0.20273	0.6877965058644088	0.68719	0.447591851173	0.44610	0.398638606071	0.24879	T	0.050338	0.28566	T	-0.570708	0.00219	T	-0.576964	0.14817	T	0.000742697406759907	0.00007	T	0.816218	0.47186	T	0.04270768	0.06527	0.046354506	0.06442	0.04270768	0.06526	0.046354506	0.06441	-8.311	0.63169	D	.	.	0.077	0.29477	B	.;.;.	.;.;.	1.434824	0.18534	13.79	0.22678516618858566	0.00923	0.19699	0.20761	N	AEFBI	0.096341	0.19451	N	-1.08975812718982	0.06830	0.3155714	-1.10676302781455	0.07570	0.3687422	0.989446278016989	0.31828	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	0.412	0.15614	1.709000	0.37528	.	.	-0.115000	0.14600	0.011000	0.18532	0.194000	0.23519	0.032000	0.13371	0.3655:0.0:0.6345:0.0	8.611	0.32965	698	0.58074	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1404.98	35	chr22	21931260	.	G	A	1404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.807;DP=801;ExcessHet=0.0000;FS=2.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-3.500e-01;SOR=0.974	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1419,0,1326	20	0	1	0
chr22	21934134	21934134	C	T	exonic	PPM1F	.	nonsynonymous SNV	PPM1F:NM_014634:exon4:c.G448A:p.A150T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.017	B	0.005	B	0.380	N	1.000	N	1.5	L	2.99	T	-1.053	T	0.070	T	0.063	0.350	5.899	-3.76	-0.301	-0.001	0.854	0.006	0.00733917400016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1249477981	7.04e-07	1.368e-06	0	1.423e-06	2.613e-05	0	0	.	.	0	2.613e-05	0	0	0	0	0	0	0	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.572	0.24277	T	0.407	0.28860	T	0.003	0.17573	B	0.004	0.11217	B	0.379581	0.04411	N	1.454990	1	0.08975	N	0.295	0.10161	N	2.46	0.45248	T	-0.14	0.09460	N	0.043	0.01577	-1.0528	0.13628	T	0.070	0.28511	T	10	0.055559754	0.06092	T	0.007339	0.19469	T	0.006	0.00375	0.397	0.42426	0.273938319068	0.27005	0.18713659789292705	0.18631	0.386554007323	0.39947	0.269347280264	0.06055	T	0.031882	0.22241	T	-0.337293	0.05578	T	-0.722275	0.04686	T	0.0444765004563131	0.04506	T	0.552645	0.19218	T	0.02615872	0.01637	0.031792752	0.01818	0.02615872	0.01637	0.031792752	0.01818	-4.833	0.34973	T	.	.	0.068	0.03266	B	.;.;.	.;.;.	0.138569	0.05329	1.817	0.93717001570586689	0.23638	0.02579	0.07130	N	AEFBI	0.030110	0.02969	N	-1.26542633939839	0.04099	0.1843789	-1.34395041733946	0.03877	0.1817827	0.99837965849836	0.36850	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	-3.76	0.04074	-0.718000	0.05083	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1716:0.2208:0.2775:0.33	0.854	0.01104	698	0.58074	PPM-type phosphatase domain;PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1653.98	36	chr22	21934134	.	C	T	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.340e-01;DP=792;ExcessHet=0.0000;FS=1.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-9.600e-02;SOR=0.947	GT:AD:DP:GQ:PL	0/1:44,62:106:99:1668,0,1068	20	0	1	0
chr22	22487798	22487798	G	C	exonic	ZNF280B	.	nonsynonymous SNV	ZNF280B:NM_080764:exon4:c.C1601G:p.S534C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.818	P	.	.	1.000	N	1.895	L	3.82	T	-1.020	T	0.023	T	0.238	0.716	7.813	2.78	0.780	0.424	3.837	0.039	0.0030527646211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.949e-07	6.84e-07	0	1.4e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.999889	0.19853	N	.	.	.	.	.	.	.	.	.	0.091	0.06990	-1.0195	0.23877	T	0.023	0.09787	T	9	0.1520851	0.28734	T	0.003053	0.06577	T	.	.	0.17	0.07536	0.385906861911	0.38208	0.22807110800338645	0.22722	.	.	0.342957347631	0.16880	T	.	.	.	-0.120324	0.33072	T	-0.410614	0.32155	T	0.404709994792938	0.29119	T	0.267373	0.04426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10883	B	.;.	.;.	2.465133	0.31763	18.84	0.97509310026545626	0.34341	0.37201	0.25708	N	AEFBI	0.145464	0.26868	N	-0.119165972822987	0.36558	2.114805	-0.262285593244859	0.29352	1.643722	0.999861843256234	0.44398	0.651	0.46895	0	0.670034	0.63936	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.85	2.78	0.31702	0.642000	0.24426	.	.	-0.110000	0.15115	0.832000	0.30162	1.000000	0.68203	0.005000	0.06747	0.0883:0.1642:0.5776:0.1699	3.837	0.08410	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1062.98	35	chr22	22487798	.	G	C	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.964e+00;DP=780;ExcessHet=0.0000;FS=2.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.768;SOR=0.434	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1077,0,1517	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	0/1:72,10:82:99:194,0,2973	5	0	16	0
chr22	23573549	23573549	G	A	exonic	IGLL1	.	nonsynonymous SNV	IGLL1:NM_001369906:exon3:c.C362T:p.P121L	Agammaglobulinemia 2, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	705820	Agammaglobulinemia_2,_autosomal_recessive	MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.89	P	0.708	P	0.142	N	1.000	D	.	.	3.97	T	-1.025	T	0.020	T	0.257	0.530	6.870	1.33	0.292	2.395	6.889	0.102	.	.	0.00299521	0.0013	0.0003	0.0004	0.0014	0.0002	0.0006	0.0022	0.0058	0.0012225	189	154602	rs142384414	0.0007	0.0009	0.0007	0.0008	0.0049	0.0007	0.0007	0.0046	0.0044	2.991e-05	0.0003	0.0027	0.0009	9.363e-05	0.0012	0.0004	0.0010	0.0049	0.0008	0.0020	0.0007	0.0009	0.0081	0.0007	0.0006	0.0061	0.0054	0.0005	0	0.0004	0.0047	0.0020	0	0	0.0004	0.0019	0.0081	0.215	0.19293	T	0.225	0.25514	T	0.89	0.48942	P	0.708	0.54437	P	0.142092	0.18255	N	0.497979	0.998223	0.81001	D	.	.	.	3.97	0.03326	T	-6.01	0.89648	D	0.07	0.04307	-1.0254	0.21952	T	0.020	0.08360	T	9	0.011942416	0.00259	T	.	.	.	0.102	0.29158	.	.	0.423360453849	0.41956	0.34562287531873404	0.34476	0.132112666368	0.14889	0.51163905859	0.40451	T	0.323887	0.69475	T	-0.564158	0.00240	T	-0.581508	0.14411	T	0.103484918279773	0.12736	T	0.620638	0.33984	T	0.14197707	0.32692	0.21564394	0.46162	0.2361661	0.46463	0.19622453	0.43341	-7.671	0.58806	D	0.15740038284871288	0.19004	0.115	0.23148	B	.;.	.;.	1.547524	0.19836	14.46	0.95635841881488604	0.27426	0.39159	0.26150	N	AEFGI	0.042258	0.06534	N	-0.172998474511538	0.34262	1.953501	-0.324661426207704	0.27304	1.514155	1.29750678801093E-4	0.05386	0.625279	0.40028	0	0.60822	0.50512	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.45	1.33	0.20958	1.070000	0.30265	0.541000	0.19334	-0.484000	0.05061	0.925000	0.32113	0.000000	0.08366	0.042000	0.14466	0.1752:0.0:0.8248:0.0	6.889	0.23399	880	0.29376	Immunoglobulin C1-set|Immunoglobulin-like domain;Immunoglobulin C1-set|Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1405.98	34	chr22	23573549	.	G	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=831;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.08;MQRankSum=-3.371e+00;QD=13.26;ReadPosRankSum=-1.037e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1420,0,1407	20	0	1	0
chr22	24085053	24085053	C	G	exonic	CABIN1	.	nonsynonymous SNV	CABIN1:NM_001201429:exon21:c.C3015G:p.N1005K	.	.	415	1090	17	0	0	17	0.00773782	.	.	3216554	CABIN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.44	T	0.946	P	0.671	P	0.000	D	1.000	D	0.695	N	-1.03	T	-0.692	T	0.292	T	0.137	2.151	13.15	-1.44	-0.261	-0.427	11.630	0.285	.	0.0007	0.00299521	0.0021	9.623e-05	0.0003	0	0.0002	0.0013	0.0033	0.0096	0.0018823	291	154602	rs149291554	0.0012	0.0012	0.0009	0.0015	0.0086	0.0012	0.0012	0.0081	0.0079	0.0001	0.0003	0.0049	0	0.0003	0.0043	0.0007	0.0016	0.0086	0.0007	0.0007	0.0007	0.0008	0.0079	0.0006	0.0006	0.0059	0.0052	4.812e-05	0	0.0003	0.0037	0	0.0002	0.0034	0.0007	0.0009	0.0079	0.295	0.14743	T	0.24	0.24840	T	0.91	0.50240	P	0.47	0.46768	P	0.000003	0.62929	D	0.098174	0.998878	0.45601	D	1.1	0.28011	L	-1.03	0.76430	T	-1.11	0.28703	N	0.267	0.43514	-0.6923	0.60801	T	0.292	0.66345	T	10	0.008252561	0.00187	T	.	.	.	0.285	0.60338	0.368	0.37687	0.719921916295	0.71745	0.5819442926952952	0.58123	0.418019226632	0.42399	0.560295581818	0.47310	T	0.083363	0.37037	T	-0.474333	0.00799	T	-0.447725	0.27947	T	0.0683832950159575	0.08423	T	0.89971	0.67067	D	0.082710475	0.19066	0.09662498	0.22967	0.082710475	0.19066	0.09662498	0.22967	-6.924	0.53477	T	.	.	0.231	0.50781	B	.;.;.;.	.;.;.;.	0.650796	0.10190	6.933	0.98325968298412869	0.40290	0.52303	0.29100	D	AEFDBI	0.263079	0.38070	N	-0.474074403644843	0.22933	1.227963	-0.495736941329381	0.22272	1.208835	0.0138380704057729	0.12516	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	-1.44	0.08391	-0.428000	0.07059	-1.871000	0.04578	-0.831000	0.02872	0.276000	0.25103	0.000000	0.08366	0.969000	0.54022	0.0:0.4115:0.0:0.5885	11.630	0.50425	917	0.20147	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	936.98	34	chr22	24085053	.	C	G	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.242;DP=831;ExcessHet=0.0000;FS=0.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-1.152e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/1:62,40:102:99:951,0,1634	20	0	1	0
chr22	24627937	24627937	G	A	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon13:c.G1294A:p.E432K	.	.	433	1083	6	0	0	6	0.00276243	.	.	2360504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.92	T	0.037	B	0.028	B	0.045	N	1.000	N	0.385	N	3.17	T	-0.974	T	0.012	T	0.438	-0.683	1.026	-6.99	-1.261	0.080	23.385	0.152	0.00403397310393	0.0002	0.000199681	0.0002	0	0.0003	0	0	0.0002	0	0.0002	0.0001552	24	154602	rs373393964	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0022	0.0018	0.0002	0.0003	0.0020	0	0	0.0033	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0001	8.897e-05	7.239e-05	0	0.0001	0.0032	0	0	0.0034	0.0002	0.0009	0.0004	0.863	0.07944	T	0.917	0.09690	T	0.037	0.20876	B	0.028	0.21332	B	0.045166	0.23564	N	0.426359	1	0.08975	N	0.895	0.22405	L	3.17	0.07599	T	-0.41	0.18248	N	0.223	0.29889	-0.9739	0.36366	T	0.012	0.04795	T	10	0.018870503	0.00415	T	0.004034	0.09587	T	0.152	0.39956	.	.	0.384263066157	0.38043	0.6398862231624227	0.71765	.	.	0.433632999659	0.29705	T	0.093958	0.39318	T	-0.429954	0.01483	T	-0.53341	0.18948	T	0.00456838542595506	0.00049	T	0.887111	0.91282	D	0.062326565	0.13004	0.08482113	0.19541	0.062326565	0.13004	0.08482113	0.19541	-7.922	0.68331	D	.	.	0.207	0.43380	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.290251	0.06665	3.167	0.53556412829521804	0.04963	0.31093	0.24250	N	AEFI	0.128163	0.24583	N	-1.88738320072913	0.00364	0.01566034	-1.94358236871232	0.00400	0.01770262	3.68476480225257E-4	0.06707	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.49	-6.99	0.01449	0.187000	0.16806	-0.213000	0.10835	-1.279000	0.01270	0.928000	0.32210	0.000000	0.08366	0.132000	0.19645	0.0:0.1584:0.8416:0.0	23.385	0.99983	680	0.59965	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1306.98	105	chr22	24627937	.	G	A	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.470e-01;DP=1010;ExcessHet=0.0000;FS=2.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.83;MQRankSum=3.25;QD=9.75;ReadPosRankSum=0.744;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,59:134:99:1|0:24627926_G_A:1321,0,2138:24627926	20	0	1	0
chr22	25768225	25768225	C	G	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon4:c.C309G:p.D103E	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	419	1101	2	0	0	2	0.000907441	.	.	705844	MYO18B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.009	B	0.007	B	0.258	N	1.000	N	1.61	L	-2.11	D	-0.656	T	0.364	T	0.048	2.626	14.74	2.37	0.517	1.558	4.829	0.171	0.0263158722234	0.0021	0.00279553	0.0009	0.0074	0.0010	0	0	8.998e-05	0	0.0010	0.0008473	131	154602	rs150178966	0.0004	0.0004	0.0003	0.0004	0.0079	0.0003	0.0003	0.0071	0.0068	0.0079	0.0008	0	0	0	0.0024	4.227e-05	0.0009	0.0013	0.0024	0.0025	0.0024	0.0026	0.0080	0.0022	0.0022	0.0073	0.0070	0.0080	0	0.0008	0	0.0002	0	0.0102	0.0001	0.0028	0.0021	0.043	0.41364	D	0.086	0.40909	T	.	.	.	.	.	.	0.257985	0.03690	N	1.639400	1	0.08975	N	1.445	0.36358	L	-2.11	0.86349	D	-1.16	0.29727	N	0.058	0.03841	-0.6564	0.62434	T	0.364	0.72483	T	10	0.0070002973	0.00159	T	0.026316	0.49235	D	0.171	0.43483	0.166	0.07071	0.755189103478	0.75297	0.043061597864696446	0.04251	0.062289322128	0.06933	0.231429502368	0.02076	T	0.042604	0.26236	T	-0.484182	0.00700	T	-0.462579	0.26319	T	0.0108560101696592	0.00155	T	0.354665	0.08016	T	0.052090917	0.09665	0.056575067	0.10134	0.041593164	0.06155	0.054216452	0.09283	-2.579	0.06367	T	.	.	0.119	0.30920	B	.;.;.	.;.;.	1.188587	0.15795	12.11	0.98764427946630684	0.45862	0.65878	0.32886	D	AEFGBI	0.111404	0.22057	N	-0.495736740219008	0.22219	1.184921	-0.469944864808118	0.22987	1.251273	0.998517494627117	0.37109	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.51	2.37	0.28337	1.520000	0.35506	0.964000	0.23011	-0.231000	0.07715	0.999000	0.42656	0.031000	0.21272	0.004000	0.06068	0.0:0.6286:0.176:0.1954	4.829	0.12794	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1836.98	40	chr22	25768225	.	C	G	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.170e-01;DP=1173;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.501e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1851,0,2037	20	0	1	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.996	D	0.001	D	1.000	D	1.1	L	-3.55	D	0.873	D	0.854	D	0.534	3.865	19.64	4.62	2.497	5.622	17.344	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	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	0.2333	768.61	106	chr22	27983494	.	C	G	768.61	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-3.655e+00;DP=1981;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.3157;MLEAC=9;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=1.25;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,15:98:73:0|1:27983493_C_G:73,0,3040:27983493	8	0	7	6
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.001	N	1.000	D	1.1	L	-3.6	D	0.805	D	0.837	D	0.769	4.020	20.6	3.6	1.253	7.418	12.290	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	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	0.4375	796.84	106	chr22	27983495	.	C	G	796.84	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-2.082e+00;DP=1886;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.4724;MLEAC=12;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=1.07;ReadPosRankSum=1.34;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,15:98:73:0|1:27983493_C_G:73,0,3040:27983493	1	0	7	13
chr22	36160788	36160788	C	A	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon1:c.G104T:p.G35V,	.	.	416	1076	30	0	0	30	0.0137489	.	.	758066	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.808	P	0.356	B	0.043	U	1.000	N	0	N	3.31	T	-1.000	T	0.011	T	0.082	0.874	8.543	-5.08	-0.880	-1.939	8.683	0.077	0.00399405702194	0.0008	0.00179712	0.0021	9.651e-05	0.0022	0	0.0002	0.0013	0.0011	0.0081	0.001934	299	154602	rs148885226	0.0013	0.0013	0.0011	0.0016	0.0080	0.0013	0.0013	0.0074	0.0072	5.974e-05	0.0021	0.0007	0	0.0002	0.0080	0.0009	0.0016	0.0078	0.0011	0.0011	0.0010	0.0013	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0031	0.0012	0.0002	0	0	0.0010	0.0014	0.0081	0.009	0.57480	D	0.023	0.57104	D	0.808	0.45299	P	0.356	0.43023	B	0.043271	0.01917	U	37.602300	1	0.81001	D	0	0.06538	N	3.31	0.06291	T	-0.27	0.11366	N	0.151	0.15469	-1.0002	0.29860	T	0.011	0.04321	T	10	0.0037358105	0.00069	T	0.003994	0.09462	T	0.077	0.22490	.	.	0.257786959452	0.25393	0.078363107641043	0.07772	0.691787299004	0.60617	0.210936486721	0.00852	T	0.001527	0.00969	T	-0.653267	0.00069	T	-0.707424	0.05429	T	0.0420518779235941	0.04064	T	0.286771	0.05140	T	0.057427566	0.11427	0.082281806	0.18768	0.057427566	0.11427	0.082281806	0.18767	-3.39	0.14922	T	.	.	0.154	0.34071	B	.	.	-0.212215	0.03029	0.463	0.88461662680239472	0.17995	0.05534	0.11427	N	ALL	0.105165	0.21021	N	-1.03137101328716	0.07958	0.3714873	-1.24005897005935	0.05280	0.2511918	0.99999999041564	0.74766	0.428477	0.06694	0	0.374146	0.05931	1	0.547309	0.15389	0	0.607083	0.38531	0	.	.	2.76	-5.08	0.02708	-2.118000	0.01412	-12.434000	0.00525	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2572:0.6312:0.1116	8.683	0.33384	471	0.78036	.	.	.	.	.	.	Likely benign	0	0	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	1744.98	36	chr22	36160788	.	C	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.408;DP=1041;ExcessHet=0.0000;FS=5.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-1.194e+00;SOR=0.441	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1759,0,1827	20	0	1	0
chr22	36227959	36227959	C	T	exonic	APOL2	.	nonsynonymous SNV	APOL2:NM_030882:exon5:c.G459A:p.M153I	.	.	27	1464	30	1	0	32	0.0108108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.126	B	0.096	B	0.028	N	1.000	N	0.895	L	4.14	T	-0.932	T	0.009	T	0.085	-0.138	3.324	-3.79	-0.836	-2.301	8.579	0.023	0.00233605697159	0.0009	0.00179712	0.0022	0	0.0005	0	0.0003	0.0016	0.0011	0.0087	0.0020634	319	154602	rs200488207	0.0016	0.0016	0.0013	0.0020	0.0094	0.0016	0.0015	0.0089	0.0087	8.961e-05	0.0010	7.652e-05	0	0.0010	0.0071	0.0012	0.0021	0.0094	0.0010	0.0010	0.0010	0.0011	0.0079	0.0009	0.0008	0.0059	0.0052	0.0002	0	0.0007	0	0	0.0005	0.0034	0.0013	0.0014	0.0079	0.334	0.12961	T	0.559	0.10138	T	.	.	.	.	.	.	0.027806	0.01674	N	2.001260	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.66	0.19085	N	0.046	0.02861	-0.9321	0.43829	T	0.009	0.03011	T	10	0.010323375	0.00230	T	0.002336	0.04507	T	0.023	0.04649	0.485	0.56780	0.0716867268079	0.06686	0.16648136821727322	0.16568	0.101037800964	0.11422	0.28577670455	0.08311	T	9.07E-4	0.00463	T	-0.701736	0.00036	T	-0.774798	0.02614	T	0.0123231575730099	0.00200	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.54064	B	.;.;.	.;.;.	-2.863662	0.00013	0.001	0.54460281740649141	0.05142	0.00572	0.02591	N	AEFGBI	0.036512	0.04877	N	-1.31215000778755	0.03535	0.1580791	-1.42177051027157	0.03035	0.1408186	0.987154519355852	0.31196	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.66	-3.79	0.04037	-2.478000	0.01061	-12.543000	0.00517	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4315:0.0:0.5685	8.579	0.32779	619	0.66147	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3363.11	39	chr22	36227959	.	C	T	3363.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.669;DP=1109;ExcessHet=0.1072;FS=4.688;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.27;SOR=0.706	GT:AD:DP:GQ:PL	0/1:91,58:149:99:1664,0,2680	19	0	2	0
chr22	37768157	37768157	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_007032:exon9:c.G1417A:p.G473S	Deafness, autosomal recessive 28, Autosomal recessive	.	2	1510	10	0	0	10	0.00330033	.	.	231218	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.175	B	0.084	B	.	.	1.000	N	-1.1	N	2.24	T	-0.986	T	0.016	T	0.081	2.316	13.70	1.64	0.687	1.336	4.545	0.014	0.00889148132108	0.0006	0.000599042	0.0006	0.0008	0.0005	0	0	0.0006	0	0.0008	0.0004786	74	154602	rs191901426	0.0004	0.0004	0.0004	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	0.0004	0.0002	0.0003	2.521e-05	0	0.0061	0.0004	0.0008	0.0010	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0005	0.0003	0	0	0.0068	0.0005	0	0.0010	0.315	0.13789	T	0.422	0.14034	T	0.024	0.19075	B	0.005	0.11217	B	.	.	.	.	0.99921	0.23853	N	-0.14	0.04484	N	2.24	0.20664	T	-0.84	0.31375	N	0.16	0.16725	-0.9859	0.33615	T	0.016	0.06473	T	9	0.008279085	0.00188	T	0.008891	0.23439	T	0.014	0.01968	.	.	0.253205268125	0.24938	0.06350221973927411	0.06289	0.258245614036	0.28380	0.423331797123	0.28295	T	0.011622	0.10346	T	-0.562184	0.00246	T	-0.67305	0.07414	T	0.0107156518032679	0.00151	T	0.764923	0.39623	T	0.04071498	0.05863	0.05715914	0.10342	0.045274626	0.07382	0.068579115	0.14340	-3.564	0.22438	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	2.722786	0.35617	19.95	0.97346928616857309	0.33505	0.70160	0.34476	D	AEFGBCI	0.119296	0.23289	N	-0.617639284489508	0.18415	0.9558382	-0.410331147442293	0.24693	1.354	0.998590507875126	0.37268	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.01	1.64	0.22949	1.488000	0.35160	6.434000	0.55639	0.662000	0.56354	0.791000	0.29607	1.000000	0.68203	0.987000	0.62547	0.3357:0.0:0.5106:0.1537	4.545	0.11478	809	0.43032	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	663.98	36	chr22	37768157	.	G	A	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.55;ReadPosRankSum=1.17;SOR=0.602	GT:AD:DP:GQ:PL	0/1:58,30:88:99:678,0,1689	20	0	1	0
chr22	41544071	41544071	C	T	exonic	POLR3H	.	nonsynonymous SNV	POLR3H:NM_001018050:exon1:c.G31A:p.V11I	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.929	P	0.472	P	0.001	N	1.000	D	0.96	L	.	.	-1.005	T	0.134	T	0.518	2.865	15.54	5.16	2.396	7.026	17.623	0.366	0.0095186656751	0.0002	0.000199681	0.0007	0	0	0	0.0002	0.0004	0	0.0034	0.0006209	96	154602	rs148608238	0.0004	0.0005	0.0003	0.0006	0.0037	0.0004	0.0004	0.0033	0.0032	2.989e-05	8.946e-05	0.0016	0	0.0001	0.0009	0.0002	0.0005	0.0037	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0002	0.0021	0.0017	2.405e-05	0	0.0003	0.0020	0	9.411e-05	0	0.0003	0	0.0033	0.282	0.15406	T	0.361	0.16914	T	0.19	0.30183	B	0.084	0.29270	B	0.001028	0.40562	N	0.207799	1	0.81001	D	0.99	0.25021	L	.	.	.	-0.5	0.17210	N	0.682	0.69125	-1.0054	0.28337	T	0.134	0.44778	T	9	0.017573118	0.00376	T	0.009519	0.24924	T	0.366	0.68582	.	.	0.510872562601	0.50726	0.512383547656992	0.51160	0.127319244009	0.14350	0.745487093925	0.73780	T	0.040541	0.25563	T	-0.275969	0.11099	T	-0.171923	0.57267	T	0.105148360913921	0.12914	T	0.961604	0.85550	D	0.1343191	0.31212	0.15599123	0.36541	0.1343191	0.31212	0.15599123	0.36541	-5.844	0.44956	T	.	.	0.097	0.28521	B	.;.;.;.	.;.;.;.	3.716858	0.53094	23.3	0.98579434131518562	0.43219	0.73265	0.35840	D	ALL	0.763821	0.70080	D	0.12484112794001	0.47622	2.985478	0.266699792551792	0.53605	3.528664	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.16	5.16	0.70563	7.568000	0.81546	5.780000	0.49798	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.623	0.87988	95	0.96074	RNA polymerase Rpb7, N-terminal;RNA polymerase Rpb7, N-terminal;.;RNA polymerase Rpb7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	910.98	42	chr22	41544071	.	C	T	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=835;ExcessHet=0.0000;FS=2.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.777;SOR=1.140	GT:AD:DP:GQ:PL	0/1:32,34:66:99:925,0,708	20	0	1	0
chr22	43576434	43576434	C	T	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon24:c.G2827A:p.G943R	.	.	.	.	.	.	.	.	.	.	.	3241575	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.983	D	0.009	N	1.000	D	0.705	N	3.23	T	-1.017	T	0.030	T	0.286	0.178	4.958	5.19	2.705	1.132	8.980	0.063	0.00625750185108	7.7e-05	.	0.0003	9.707e-05	0.0006	0.0001	0	9.017e-05	0	0.0010	0.000207	32	154602	rs372687373	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0008	0.0007	6.175e-05	0.0003	0.0009	0.0006	0	0.0005	4.696e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	8.173e-05	6.728e-05	0.0003	0.0002	0	0	0.0003	0.0012	0.0008	0	0.0034	4.411e-05	0	0.0006	0.636	0.05061	T	0.261	0.22962	T	1.0	0.90584	D	0.983	0.75793	D	0.008872	0.30626	N	0.302794	0.51359	0.31627	N	1.68	0.43186	L	3.23	0.06931	T	1.13	0.01182	N	0.459	0.49602	-1.0170	0.24690	T	0.030	0.12979	T	10	0.043590754	0.03225	T	0.006258	0.16435	T	0.063	0.18251	0.439	0.49321	0.391930172978	0.38808	0.36743458269758206	0.36657	0.383326737611	0.39658	0.478385567665	0.35834	T	0.001399	0.00865	T	-0.516433	0.00461	T	-0.570945	0.15363	T	0.0566344894468784	0.06628	T	0.720328	0.33319	T	0.08971951	0.20972	0.11420353	0.27566	0.08971951	0.20972	0.11420353	0.27566	-5.775	0.44400	T	.	.	0.428	0.61103	A	.;.	.;.	3.088672	0.41578	21.4	0.4206866361836023	0.03076	0.21245	0.21333	N	AEFBI	0.192912	0.32005	N	-0.00777551170539183	0.41503	2.483618	0.0416340122753889	0.41669	2.507319	0.0179175605916179	0.13003	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	1.170000	0.31493	5.687000	0.49320	0.599000	0.40250	0.068000	0.22015	0.993000	0.31925	0.983000	0.59808	0.1496:0.6205:0.2299:0.0	8.980	0.35123	856	0.34373	.;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	38	chr22	43576434	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.258;DP=812;ExcessHet=0.0000;FS=0.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-1.251e+00;SOR=0.771	GT:AD:DP:GQ:PL	0/1:70,52:122:99:1174,0,1686	20	0	1	0
chr22	46260654	46260654	T	C	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A2669G:p.N890S,	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.888	P	0.453	P	0.899	N	1.000	N	1.78	L	1.45	T	-1.042	T	0.068	T	0.081	2.197	13.30	3.82	2.038	-0.022	3.496	0.105	0.00620148432293	0.0009	.	0.0010	0.0003	0.0008	0	0	0.0012	0.0055	0.0013	0.0008991	139	154602	rs111396160	0.0007	0.0007	0.0007	0.0007	0.0088	0.0007	0.0006	0.0069	0.0062	0.0001	0.0010	0.0032	0	0	0.0088	0.0006	0.0014	0.0011	0.0007	0.0007	0.0005	0.0009	0.0017	0.0006	0.0006	0.0008	0.0006	9.618e-05	0	0.0011	0.0032	0	0	0.0170	0.0008	0.0024	0.0017	0.299	0.14546	T	0.287	0.21210	T	0.888	0.48822	P	0.453	0.46205	P	0.898914	0.08634	N	0.952426	1	0.08975	N	1.83	0.48079	L	1.45	0.32482	T	-1.17	0.29933	N	0.151	0.15469	-1.0420	0.16711	T	0.068	0.28047	T	10	0.008417666	0.00191	T	0.006201	0.16259	T	0.105	0.29889	.	.	0.500303608228	0.49666	0.3647280924393358	0.36386	.	.	0.307574510574	0.11541	T	0.172933	0.52162	T	-0.603649	0.00139	T	-0.685428	0.06658	T	0.0159301213479079	0.00377	T	0.679032	0.28770	T	0.08637161	0.20074	0.043574844	0.05452	0.08637161	0.20074	0.043574844	0.05452	-4.174	0.26374	T	.	.	0.118	0.24020	B	.	.	2.601091	0.33759	19.44	0.95029208241972163	0.26023	0.04356	0.09925	N	AEFBI	0.044072	0.07047	N	-0.23892165727883	0.31547	1.770085	-0.306749803319362	0.27880	1.550248	0.998444885412644	0.36977	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.06	3.82	0.43153	-0.075000	0.11392	0.767000	0.21364	0.665000	0.62972	0.000000	0.06391	0.007000	0.19602	0.839000	0.39591	0.0:0.144:0.2269:0.6291	3.496	0.07217	939	0.14249	REJ 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	1854.98	37	chr22	46260654	.	T	C	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=1066;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=0.128;SOR=0.648	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1869,0,1625	20	0	1	0
chr22	49883846	49883846	G	A	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.G184A:p.G62S,	.	.	424	1065	32	1	0	34	0.0157116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.031	B	0.01	B	0.923	N	1.000	N	0	N	1.01	T	-0.973	T	0.043	T	0.1	2.273	13.56	-8.46	-2.295	-0.385	12.308	0.021	.	0.0033	0.00698882	0.0061	0.0009	0.0011	0.0001	0.0014	0.0041	0.0099	0.0260	0.0057891	895	154602	rs149368184	0.0053	0.0053	0.0046	0.0060	0.0259	0.0052	0.0052	0.0250	0.0247	0.0011	0.0013	0.0025	5.054e-05	0.0015	0.0075	0.0044	0.0054	0.0259	0.0032	0.0032	0.0032	0.0032	0.0255	0.0030	0.0029	0.0219	0.0205	0.0012	0	0.0018	0.0029	0.0002	0.0010	0.0034	0.0038	0.0028	0.0255	0.181	0.21884	T	0.506	0.10967	T	0.031	0.20130	B	0.01	0.14941	B	0.923499	0.07491	N	1.044870	1	0.08975	N	0.55	0.14455	N	1.01	0.41058	T	0.05	0.06369	N	0.085	0.06190	-0.9729	0.36583	T	0.043	0.18410	T	10	0.0031244755	0.00052	T	.	.	.	0.021	0.04004	.	.	0.198222871337	0.19423	0.07245715163283294	0.07182	0.42463714905	0.42886	0.225247323513	0.01635	T	0.026783	0.19750	T	-0.647097	0.00075	T	-0.68269	0.06821	T	0.0122027998289608	0.00196	T	0.412859	0.10744	T	0.032617938	0.03322	0.03913748	0.03940	0.032617938	0.03322	0.03913748	0.03939	-3.178	0.12214	T	.	.	0.085	0.10062	B	.	.	-1.112552	0.00625	0.017	0.70668893529333754	0.09371	0.00680	0.02918	N	AEFDBI	0.018867	0.00606	N	-1.72146032854527	0.00768	0.03319096	-1.79521640729504	0.00775	0.03454767	0.999886811230625	0.44867	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.31	-8.46	0.00822	-0.534000	0.06238	-2.552000	0.03617	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1199:0.4749:0.4052:0.0	12.308	0.54234	975	0.05339	.	.	.	.	.	.	Likely benign	0	0	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	4013.11	33	chr22	49883846	.	G	A	4013.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.85;DP=976;ExcessHet=0.1072;FS=2.630;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=1.90;SOR=0.868	GT:AD:DP:GQ:PL	0/1:75,76:151:99:2075,0,1849	19	0	2	0
chr22	49909927	49909927	G	A	exonic	ALG12	.	nonsynonymous SNV	ALG12:NM_024105:exon5:c.C631T:p.R211C,	Congenital disorder of glycosylation, type Ig	.	0	1479	43	0	0	43	0.0143286	.	.	101991	ALG12-congenital_disorder_of_glycosylation|not_provided|not_specified	MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.019	B	0.022	B	0.285	N	1.000	N	2.015	M	-0.06	T	-0.981	T	0.060	T	0.424	1.336	10.39	-2.93	-0.130	2.156	5.595	0.237	.	0.0043	0.0165735	0.0095	0.0038	0.0020	0.0296	0.0014	0.0044	0.0123	0.0312	0.0089714	1387	154602	rs144665682	0.0069	0.0069	0.0061	0.0076	0.0309	0.0068	0.0067	0.0300	0.0296	0.0061	0.0019	0.0050	0.0300	0.0019	0.0087	0.0046	0.0078	0.0309	0.0062	0.0062	0.0059	0.0064	0.0324	0.0058	0.0057	0.0284	0.0269	0.0059	0	0.0032	0.0052	0.0324	0.0013	0.0034	0.0042	0.0033	0.0313	0.173	0.22573	T	0.17	0.30436	T	0.019	0.17989	B	0.022	0.19653	B	0.285252	0.03858	N	1.369290	1	0.08975	N	0.795	0.19620	N	-0.06	0.63568	T	-2.8	0.59226	D	0.187	0.20395	-0.9811	0.34748	T	0.060	0.25127	T	10	0.006156057	0.00139	T	.	.	.	0.237	0.54074	.	.	0.629195211289	0.62616	0.4898512708998514	0.48905	0.216843438073	0.24205	0.243083298206	0.03075	T	0.34965	0.71747	T	-0.41824	0.01755	T	-0.349864	0.39221	T	0.0094539555011702	0.00122	T	0.611339	0.23205	T	0.09904964	0.23370	0.07984733	0.18010	0.09904964	0.23370	0.07984733	0.18010	-5.331	0.40249	T	0.08436020165010061	0.04649	0.103	0.18372	B	.	.	1.568494	0.20082	14.58	0.92082893888583861	0.21431	0.16713	0.19515	N	AEFDBI	0.058154	0.10890	N	-0.904010963300941	0.10748	0.5151285	-0.985141080864406	0.10119	0.5076123	0.999977860468369	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	-2.93	0.05261	2.172000	0.42090	0.551000	0.19421	-0.153000	0.12021	0.704000	0.28664	0.000000	0.08366	0.000000	0.00833	0.3751:0.4205:0.2043:0.0	5.595	0.16603	970	0.06235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2594.11	34	chr22	49909927	.	G	A	2594.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.86;DP=1344;ExcessHet=0.1072;FS=0.481;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=1.57;SOR=0.652	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1056,0,1161	19	0	2	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9259.9	36	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C,*	9259.9	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=1.32;DP=1395;ExcessHet=0.0303;FS=0.551;InbreedingCoeff=0.3824;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-6.650e-01;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,49,0:106:99:0|1:49922284_CG_C:1619,0,2033,1791,2181,3972:49922284	15	1	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:57,0,49:106:99:0|1:49922284_CG_C:1619,1791,3972,0,2181,2033:49922284	7	1	7	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1933.0	36	chr22	49922325	.	G	C,*	1933.0	.	AC=1,7;AF=0.025,0.175;AN=40;BaseQRankSum=1.19;DP=1482;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3872;MLEAC=1,7;MLEAF=0.025,0.175;MQ=60.00;MQRankSum=0.00;QD=3.70;ReadPosRankSum=1.36;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:57,0,49:106:99:0|1:49922284_CG_C:1619,1791,3972,0,2181,2033:49922284	14	0	1	1
chrX	3321295	3321295	G	A	exonic	MXRA5	.	nonsynonymous SNV	MXRA5:NM_015419:exon5:c.C4390T:p.H1464Y,	.	.	436	1074	8	4	0	16	0.00739372	.	.	717781	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.001	B	0.454	U	1.000	N	0.695	N	0.02	T	-1.001	T	0.100	T	0.083	0.707	7.771	-0.093	-0.081	0.206	3.784	0.031	0.00709073931211	0.0070	0.0018543	0.0054	0.0009	0.0036	0	0.0042	0.0084	0.0016	0.0009	0.0054851	848	154602	rs41305155	0.0099	0.0099	0.0100	0.0095	0.0121	0.0097	0.0096	0.0114	0.0113	0.0014	0.0049	0.0024	3.311e-05	0.0048	0.0121	0.0116	0.0107	0.0013	0.0060	0.0061	0.0064	0.0052	0.0097	0.0057	0.0055	0.0090	0.0087	0.0013	0	0.0078	0.0023	0	0.0028	0	0.0097	0.0086	0.0011	0.098	0.30800	T	0.047	0.48855	D	0.003	0.11197	B	0.001	0.04355	B	0.453880	0.04830	U	1.428930	1	0.08975	N	1.59	0.40313	L	0.02	0.62318	T	-1.18	0.30140	N	0.02	0.00308	-1.0008	0.29688	T	0.100	0.37137	T	10	0.00518623	0.00113	T	0.007091	0.18786	T	0.031	0.07369	.	.	0.32306181527	0.31918	0.1982994397419881	0.19746	0.0780077054387	0.08783	0.237937927246	0.02608	T	0.003206	0.02606	T	-0.714628	0.00030	T	-0.788902	0.02195	T	0.0033541030732423	0.00035	T	0.512349	0.16405	T	0.08711681	0.20275	0.11446916	0.27632	0.08711681	0.20274	0.11446916	0.27631	-3.794	0.20715	T	.	.	0.101	0.17530	B	.	.	-0.180241	0.03192	0.526	0.94699164853636397	0.25350	0.02694	0.07335	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00941869622032055	0.11850	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.08	-0.0929	0.12990	0.096000	0.14986	-0.263000	0.10410	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2352:0.4488:0.316:0.0	3.784	0.08213	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1306.08	71	chrX	3321295	.	G	A	1306.08	.	AC=2;AF=0.048;AN=42;DP=1204;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.65;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1334,120,0	20	1	0	0
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,62,0,0:248:99:.:.:1074,0,4666,1631,4852,6483,1631,4852,6483,6483	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,62,0,0:248:99:.:.:1074,0,4666,1631,4852,6483,1631,4852,6483,6483	0	8	6	4
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,15,0:66:99:0|1:10469688_G_A:256,0,1754,407,1797,2205:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,15,0:66:99:0|1:10469688_G_A:256,0,1754,407,1797,2205:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,15:67:99:0|1:10469688_G_A:253,0,1793:10469688	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,15:67:99:0|1:10469688_G_A:253,0,1793:10469688	12	0	9	0
chrX	15522476	15522476	C	T	exonic	BMX	.	nonsynonymous SNV	BMX:NM_001320866:exon7:c.C641T:p.A214V	.	.	433	1057	23	8	1	40	0.0181143	.	.	743261	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.959	D	0.499	P	0.210	N	1.000	N	0	N	-1.0	T	-0.864	T	0.183	T	0.179	0.200	5.078	0.235	0.288	1.085	.	0.158	.	0.0006	0.00370861	0.0027	0.0001	0.0002	0.0002	0	0.0006	0.0063	0.0198	0.0026002	402	154602	rs139052738	0.0015	0.0015	0.0011	0.0025	0.0222	0.0015	0.0014	0.0212	0.0207	7.577e-05	0.0002	0.0001	0.0001	0.0003	0.0140	0.0004	0.0019	0.0222	0.0009	0.0010	0.0008	0.0013	0.0181	0.0008	0.0007	0.0141	0.0127	0.0002	0	0.0011	0	0.0003	0.0005	0.0138	0.0005	0.0026	0.0181	0.137	0.25979	T	0.237	0.24621	T	0.959	0.55135	D	0.499	0.47621	P	0.209796	0.16393	N	0.576167	1	0.08975	N	0.345	0.11182	N	-1.0	0.76037	T	-0.97	0.25770	N	0.052	0.35088	-0.8640	0.50973	T	0.183	0.53072	T	9	0.005443424	0.00120	T	.	.	.	0.158	0.41098	.	.	0.661701156416	0.65886	0.46092058594209284	0.46010	0.337740173054	0.35759	0.373524010181	0.21337	T	0.382234	0.74436	T	-0.548226	0.00299	T	-0.544009	0.17905	T	0.013524032975968	0.00248	T	0.611339	0.23205	T	0.0888372	0.20737	0.13703261	0.32767	0.0888372	0.20737	0.13703261	0.32766	-6.314	0.48832	T	.	.	0.070	0.03515	B	.;.;.	.;.;.	0.382952	0.07547	4.199	0.87475868707982296	0.17254	0.24757	0.22492	N	AEFBI	.	.	.	.	.	.	.	.	.	0.988818379006204	0.31637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.235	0.14697	0.756000	0.26084	0.203000	0.15874	-0.370000	0.05448	0.461000	0.26652	0.000000	0.08366	0.573000	0.30723	.	.	.	116	0.95299	.;.;.	.	.	.	.	.	Likely benign	0	0	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	2036.08	37	chrX	15522476	.	C	T	2036.08	.	AC=2;AF=0.048;AN=42;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.81;SOR=0.822	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2064,192,0	20	1	0	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	2/2:0,0,42,0,0,0,0:42:99:1831,1835,1838,123,126,0,1835,1838,126,1838,1835,1838,126,1838,1838,1835,1838,126,1838,1838,1838,1835,1838,126,1838,1838,1838,1838	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	2/2:0,0,42,0,0,0,0:42:99:1831,1835,1838,123,126,0,1835,1838,126,1838,1835,1838,126,1838,1838,1835,1838,126,1838,1838,1838,1835,1838,126,1838,1838,1838,1838	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	2/2:0,0,42,0,0,0,0:42:99:1831,1835,1838,123,126,0,1835,1838,126,1838,1835,1838,126,1838,1838,1835,1838,126,1838,1838,1838,1835,1838,126,1838,1838,1838,1838	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	2/2:0,0,42,0,0,0,0:42:99:1831,1835,1838,123,126,0,1835,1838,126,1838,1835,1838,126,1838,1838,1835,1838,126,1838,1838,1838,1835,1838,126,1838,1838,1838,1838	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	2/2:0,0,42,0,0,0,0:42:99:1831,1835,1838,123,126,0,1835,1838,126,1838,1835,1838,126,1838,1838,1835,1838,126,1838,1838,1838,1835,1838,126,1838,1838,1838,1838	8	0	1	0
chrX	46860080	46860080	C	G	exonic	RP2	.	nonsynonymous SNV	RP2:NM_006915:exon3:c.C861G:p.D287E,	Retinitis pigmentosa 2, X-linked	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.004	N	0.508	N	0.805	L	-1.05	T	-0.904	T	0.175	T	0.025	0.884	8.588	-0.524	-0.134	-0.136	4.248	0.168	0.230313912941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164991027	1.322e-05	0.0002	1.926e-05	0	1.486e-05	7.67e-06	6e-06	7.92e-06	6.26e-06	0	0	0	0	2.497e-05	0	1.486e-05	2.235e-05	0	1.798e-05	2.619e-05	2.576e-05	0	6.526e-05	2.99e-06	1.12e-06	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.761	0.03471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004404	0.33773	N	0.334919	0.507853	0.31672	N	0.57	0.15267	N	-1.05	0.76690	T	0.03	0.06612	N	0.03	0.00717	-0.9042	0.47538	T	0.175	0.51911	T	10	0.058759242	0.06959	T	0.230314	0.88224	D	0.168	0.42943	0.195	0.10705	0.128874641272	0.12493	0.2934621766006824	0.29259	0.277198454346	0.30193	0.347113490105	0.17496	T	0.056646	0.30345	T	-0.384829	0.02904	T	-0.790557	0.02150	T	0.0884944275021553	0.11037	T	0.659134	0.26825	T	0.07924659	0.18093	0.045651473	0.06190	0.07924659	0.18093	0.045651473	0.06189	-3.296	0.13686	T	0.16473243430326467	0.20376	0.083	0.09094	B	.	.	1.155586	0.15440	11.85	0.95785485670045956	0.27815	0.83476	0.42591	D	AEFBI	.	.	.	.	.	.	.	.	.	0.752834093680785	0.23387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.65	-0.524	0.11325	-0.132000	0.10446	0.440000	0.18415	0.599000	0.40250	0.838000	0.30254	0.994000	0.32194	0.991000	0.66497	0.3325:0.2238:0.0:0.4437	4.248	0.10130	131	0.94738	Tubulin binding cofactor C-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	51.38	40	chrX	46860080	.	C	G	51.38	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.552e+00;DP=840;ExcessHet=0.3300;FS=305.774;InbreedingCoeff=-0.0921;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.29;SOR=8.713	GT:AD:DP:GQ:PL	0/1:27,12:39:28:28,0,550	18	0	3	0
chrX	48347592	48347592	C	G	exonic	SSX3	.	nonsynonymous SNV	SSX3:NM_021014:exon7:c.G479C:p.G160A,	.	.	542	971	6	3	0	12	0.00614125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.012	B	0.02	B	0.016	N	1.000	N	0.205	N	3.14	T	-1.077	T	0.026	T	0.197	-0.172	3.162	-1.53	-0.399	-2.175	1.495	0.017	.	0.0048	0.0010596	0.0045	0.0005	0.0014	0	0.0022	0.0072	0.0111	0.0020	0.0041914	648	154602	rs145941341	0.0049	0.0049	0.0048	0.0051	0.0194	0.0048	0.0048	0.0153	0.0139	0.0012	0.0017	0.0218	3.311e-05	0.0021	0.0194	0.0051	0.0058	0.0025	0.0036	0.0036	0.0037	0.0032	0.0055	0.0033	0.0032	0.0050	0.0048	0.0005	0	0.0015	0.0212	0	0.0018	0.0137	0.0055	0.0039	0.0012	0.165	0.23271	T	0.208	0.26883	T	0.012	0.16265	B	0.02	0.19048	B	0.016211	0.01435	N	2.755460	1	0.08975	N	0.41	0.12415	N	3.14	0.07920	T	-1.75	0.41428	N	0.053	0.02462	-1.0765	0.08043	T	0.026	0.11220	T	10	0.005180359	0.00113	T	.	.	.	0.017	0.02790	.	.	0.148003135375	0.14442	0.025709915417480064	0.02521	0.0223888616739	0.02249	0.238552987576	0.02661	T	0.029322	0.21038	T	-0.816134	0.00006	T	-0.942346	0.00287	T	0.00119764584612461	0.00012	T	0.652235	0.26282	T	0.055787336	0.10889	0.06849936	0.14314	0.055787336	0.10889	0.06849936	0.14313	-3.381	0.14802	T	.	.	0.108	0.20469	B	.	.	-1.276733	0.00458	0.010	0.58699313649850271	0.06053	0.00486	0.02309	N	AEFI	.	.	.	.	.	.	.	.	.	1.90434309064945E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.86	-1.53	0.08156	-1.272000	0.02933	-3.818000	0.02517	-0.737000	0.03687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3104:0.2699:0.0:0.4197	1.495	0.02315	96	0.96030	SSXRD motif	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5448.88	38	chrX	48347592	.	C	G	5448.88	.	AC=4;AF=0.095;AN=42;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=4;MLEAF=0.095;MQ=58.73;QD=30.96;SOR=1.090	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2976,285,0	19	2	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	1/1:76,734:810:99:22312,116,0	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	0/1:638,168:806:99:2800,0,18281	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	0/1:623,155:778:99:3061,0,20036	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	0/1:562,124:686:99:2295,0,18570	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	0/1:75,537:612:99:18362,0,480	0	1	20	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T	.	.	377	953	191	1	0	193	0.0919485	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.393	B	0.677	P	0.039	N	1.000	N	0.6	N	0.95	T	-0.952	T	0.090	T	0.133	0.679	7.632	-0.877	-0.346	-0.374	4.189	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	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	0.119	1891.57	399	chrX	55146226	.	A	G	1891.57	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.994;DP=9340;ExcessHet=1.1607;FS=0.843;InbreedingCoeff=-0.1278;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=-9.600e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/1:460,84:544:99:982,0,15746	16	0	5	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|1:379,69:448:99:0|1:55146247_G_C:1586,0,15563:55146247	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|1:370,66,0:436:99:0|1:55146247_G_C:1539,0,15287,2653,15485,18138:55146247	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	0/1:129,294:423:99:9564,0,4321	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|1:363,60:423:99:0|1:55146247_G_C:1427,0,15062:55146247	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|1:363,60,0:423:99:0|1:55146247_G_C:1427,0,15062,2519,15242,17762:55146247	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|1:363,60,0:423:99:0|1:55146247_G_C:1427,0,15062,2519,15242,17762:55146247	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	0/1:65,273:338:99:9437,0,1734	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:220,63:283:99:999,0,6793	5	0	15	1
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	1/1:0,11,0,0,0,0,0:11:33:386,33,0,387,33,387,387,33,387,387,387,33,387,387,387,387,33,387,387,387,387,387,33,387,387,387,387,387	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	1/1:0,11,0,0,0,0,0:11:33:386,33,0,387,33,387,387,33,387,387,387,33,387,387,387,387,33,387,387,387,387,387,33,387,387,387,387,387	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	1/1:0,11,0,0,0,0,0:11:33:386,33,0,387,33,387,387,33,387,387,387,33,387,387,387,387,33,387,387,387,387,387,33,387,387,387,387,387	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	1/1:0,11,0,0,0,0,0:11:33:386,33,0,387,33,387,387,33,387,387,387,33,387,387,387,387,33,387,387,387,387,387,33,387,387,387,387,387	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	1/1:0,11,0,0,0,0,0:11:33:386,33,0,387,33,387,387,33,387,387,387,33,387,387,387,387,33,387,387,387,387,387,33,387,387,387,387,387	5	3	1	1
chrX	69505338	69505338	-	CTG	exonic	FAM155B	.	nonframeshift insertion	FAM155B:NM_015686:exon1:c.56_57insCTG:p.C24_W25insC,	.	.	412	1026	81	1	2	85	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1287.01	86	chrX	69505335	.	TCTG	T,TCTGCTG	1287.01	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=8.000e-03;DP=1050;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.1975;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=2.52;ReadPosRankSum=-1.560e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:42,7,0:49:99:168,0,1733,294,1755,2049	14	0	6	0
chrX	103609267	103609269	AGC	-	exonic	TCEAL3	.	nonframeshift deletion	TCEAL3:NM_001006933:exon3:c.203_205del:p.Q69del	.	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14e-05	0	0	0	0	2.084e-05	0	0	3.23e-05	5	154602	rs760176440	1.73e-05	1.73e-05	1.906e-05	1.375e-05	0.0002	1.106e-05	8.92e-06	9.825e-05	6.726e-05	0.0002	0.0001	0	0	0	0	9.5e-06	2.169e-05	0	8.95e-06	8.7e-06	0	2.949e-05	3.249e-05	0	0	.	.	3.249e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5656.05	33	chrX	103609266	.	AAGC	A	5656.05	.	AC=2;AF=0.048;AN=42;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.56;QD=33.34;SOR=0.724	GT:AD:DP:GQ:PL	1/1:0,128:128:99:5684,385,0	20	1	0	0
chrX	111744726	111744728	ACC	-	exonic	ALG13	.	nonframeshift deletion	ALG13:NM_001099922:exon24:c.2754_2756del:p.P945del	Epileptic encephalopathy, early infantile, 36, X-linked dominant	.	209	1301	2	3	7	15	0.00306513	.	.	488365	Inborn_genetic_diseases|not_provided|Developmental_and_epileptic_encephalopathy,_36|ALG13-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.531e-05	0	0	0	0	8.02e-05	0	0	3.84e-05	1	26028	rs759349340	0.0016	0.0070	0.0022	0.0002	0.0025	0.0015	0.0015	0.0022	0.0020	0.0021	0.0010	0.0007	0.0010	0.0004	0.0009	0.0016	0.0017	0.0025	0.0010	0.0019	0.0013	0.0002	0.0023	0.0009	0.0008	0.0015	0.0013	0.0019	0	0.0009	0	0.0023	0.0003	0	0.0007	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3067.05	39	chrX	111744725	.	TACC	T	3067.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.180e+00;DP=843;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=34.85;ReadPosRankSum=-5.120e-01;SOR=0.407	GT:AD:DP:GQ:PL	1/1:1,87:88:99:3095,235,0	20	1	0	0
chrX	131544886	131544888	GTT	-	exonic	OR13H1	.	nonframeshift deletion	OR13H1:NM_001004486:exon1:c.813_815del:p.K271_F272delinsN,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0011	0.0002	0.0001	0	0.0015	0.0017	0	0.0005	0.0001537	4	26028	rs750891676	0.0014	0.0015	0.0014	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0003	0.0004	0	0.0013	0.0002	0.0017	0.0013	0.0006	0.0011	0.0011	0.0013	0.0007	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0044	0.0006	0	0	0.0013	0	0.0019	0.0013	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3617.05	49	chrX	131544885	.	AGTT	A	3617.05	.	AC=2;AF=0.048;AN=42;DP=970;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.03;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:131544885_AGTT_A:3645,244,0:131544885	20	1	0	0
chrX	131544889	131544889	T	A	exonic	OR13H1	.	nonsynonymous SNV	OR13H1:NM_001004486:exon1:c.T816A:p.F272L,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2341244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.95	T	0.007	B	0.023	B	0.001	U	1.000	N	-0.58	N	8.84	T	-0.946	T	0.000	T	0.43	-0.773	0.751	1.09	0.203	0.164	0.300	0.108	0.00158157594628	.	.	0.0011	0.0002	0.0001	0	0.0015	0.0017	0	0.0005	0.0008991	139	154602	rs757467764	0.0014	0.0015	0.0014	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0003	0.0004	0	0.0013	0.0002	0.0017	0.0013	0.0006	0.0011	0.0011	0.0013	0.0007	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0044	0.0006	0	0	0.0013	0	0.0019	0.0013	0.0008	1.0	0.00964	T	0.799	0.04079	T	0.007	0.14184	B	0.023	0.19966	B	0.001046	0.40475	U	0.000000	1	0.08975	N	-0.725	0.01781	N	8.84	0.00038	T	1.35	0.00889	N	0.012	0.00125	-0.9464	0.41582	T	0.000	0.00039	T	10	0.007773459	0.00177	T	0.001582	0.02523	T	0.108	0.30607	0.32	0.29902	0.669000193909	0.66621	0.061974929391086446	0.06137	0.0234709133917	0.02381	0.349167346954	0.17799	T	0.001691	0.01120	T	-0.638944	0.00085	T	-0.736127	0.04056	T	0.0243117022511372	0.01184	T	0.457154	0.13128	T	0.10820618	0.25584	0.09399259	0.22228	0.10820618	0.25584	0.09399259	0.22227	-3.066	0.10909	T	.	.	0.377	0.58239	A	.	.	1.901763	0.24156	16.29	0.48710101547165091	0.04087	0.07250	0.13273	N	AEBI	.	.	.	.	.	.	.	.	.	1.0565014037104E-4	0.05123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.87	1.09	0.19517	-0.220000	0.09220	0.590000	0.19811	0.660000	0.55035	0.000000	0.06391	0.782000	0.26788	0.970000	0.54328	0.1922:0.2289:0.1953:0.3836	0.300	0.00253	29	0.98227	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	3617.08	49	chrX	131544889	.	T	A	3617.08	.	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=29.47;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:131544885_AGTT_A:3645,244,0:131544885	20	1	0	0
chrX	131544891	131544891	T	A	exonic	OR13H1	.	nonsynonymous SNV	OR13H1:NM_001004486:exon1:c.T818A:p.I273N,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2341245	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.963	D	0.125	U	1.000	N	3.635	H	0.97	T	-0.517	T	0.341	T	0.438	3.064	16.23	4.87	1.798	0.685	11.320	0.118	0.0214034358161	9.5e-05	.	0.0011	0.0002	0.0001	0	0.0015	0.0017	0	0.0005	0.0008991	139	154602	rs149043680	0.0014	0.0015	0.0015	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0003	0.0004	0	0.0013	0.0002	0.0017	0.0013	0.0006	0.0011	0.0011	0.0013	0.0007	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0044	0.0006	0	0	0.0013	0	0.0019	0.0013	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.963	0.70837	D	0.125421	0.18843	U	0.378437	1	0.08975	N	3.005	0.85968	M	0.97	0.42502	T	-6.14	0.90140	D	0.246	0.27792	-0.5166	0.68042	T	0.341	0.70697	T	10	0.053870022	0.05648	T	0.021403	0.44162	T	0.118	0.32913	.	.	0.903321698614	0.90236	0.29344813014552984	0.29257	0.187205896589	0.21033	0.323535144329	0.13956	T	0.023512	0.17932	T	-0.436242	0.01361	T	-0.444959	0.28256	T	0.19150668877333	0.19933	T	0.945105	0.79107	D	0.8914657	0.90633	0.8706487	0.92910	0.8914657	0.90634	0.8706487	0.92910	-9.561	0.71238	D	.	.	0.214	0.44293	B	.	.	3.340433	0.46023	22.2	0.99158246534831407	0.54015	0.25615	0.22751	N	AEBI	.	.	.	.	.	.	.	.	.	0.840938064997985	0.24865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.87	4.87	0.62877	0.933000	0.28497	1.919000	0.29697	0.660000	0.55035	0.002000	0.15269	0.655000	0.25985	0.971000	0.54645	0.0:0.0:0.0:1.0	11.320	0.48656	29	0.98227	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	3617.08	49	chrX	131544891	.	T	A	3617.08	.	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=32.01;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:131544885_AGTT_A:3645,244,0:131544885	20	1	0	0
chrX	131544894	131544896	CAG	-	exonic	OR13H1	.	nonframeshift deletion	OR13H1:NM_001004486:exon1:c.821_823del:p.S274_V275delinsL,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0011	0.0002	0.0001	0	0.0015	0.0017	0	0.0005	0.0002305	6	26028	rs756700921	0.0014	0.0015	0.0014	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0003	0.0004	0	0.0013	0.0002	0.0017	0.0013	0.0006	0.0011	0.0011	0.0013	0.0007	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0044	0.0006	0	0	0.0013	0	0.0019	0.0013	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3617.05	49	chrX	131544893	.	TCAG	T	3617.05	.	AC=2;AF=0.048;AN=42;DP=970;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.96;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:131544885_AGTT_A:3645,244,0:131544885	20	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, 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	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:30,22:60:70:70,0,431	5	0	16	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,220,0:220:99:.:.:6780,658,0,6780,658,6780	4	11	2	2
chrX	150693541	150693543	CGG	-	exonic	MTMR1	.	nonframeshift deletion	MTMR1:NM_001306144:exon1:c.11_13del:p.A10del	.	.	658	854	10	0	0	10	0.00582072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs782326539	0.0004	0.0073	0.0006	5.416e-06	0.0038	0.0004	0.0003	0.0013	0.0008	0.0006	0.0038	0.0007	0.0012	0.0189	0	0.0003	0.0006	0.0005	5.549e-05	0.0001	6.629e-05	3.059e-05	9.549e-05	2.391e-05	1.607e-05	.	.	3.279e-05	0	9.549e-05	0	0	0.0006	0	1.945e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	49.02	15	chrX	150693540	.	CCGG	C	49.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=288;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.45;ReadPosRankSum=0.00;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:63:63,0,257	20	0	1	0
chrX	153398281	153398281	-	CCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	exonic	PNMA6E	.	nonframeshift insertion	PNMA6E:NM_001367770:exon2:c.568_569insCAGGAGGCGCAGGTGAGGCAGGAGCAGCAGGTGAGG:p.E189_G190insAGGAGEAGAAGE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071	0.0018	0.0059	0.0092	0.0131	0.0066	0.0065	0.0109	0.0101	0.0013	0.0131	0.0105	0	0.0103	0.0108	0.0075	0.0103	0.0011	0.0002	0.0006	0.0003	0	0.0003	0.0001	8.951e-05	0.0001	9.153e-05	8.465e-05	0	0.0003	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1152.72	57	chrX	153398281	.	C	CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG,G	1152.72	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=2.88;DP=852;ExcessHet=0.0000;FS=5.303;InbreedingCoeff=0.5838;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.23;MQRankSum=-2.910e+00;QD=19.21;ReadPosRankSum=-4.194e+00;SOR=0.786	GT:AD:DP:GQ:PL	0/2:25,0,11:36:99:229,300,757,0,457,426	19	1	0	0
chrX	153398281	153398281	C	G	exonic	PNMA6E	.	nonsynonymous SNV	PNMA6E:NM_001367770:exon2:c.G569C:p.G190A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001191	31	26028	rs797035894	0.0041	0.0025	0.0063	0	0.0052	0.0038	0.0036	0.0041	0.0039	0.0045	0.0052	0.0030	0.0031	0.0022	0.0028	0.0046	0.0059	0.0018	0.0021	0.0020	0.0028	0	0.0040	0.0018	0.0017	0.0023	0.0019	0.0017	0	0.0040	0.0031	0.0008	0.0034	0.0217	0.0019	0.0036	0.0039	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.044147044	0.03340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001579	0.01021	T	.	.	.	.	.	.	.	.	.	0.972428	0.90037	D	0.026739683	0.01771	0.10099799	0.24165	0.026739683	0.01770	0.10099799	0.24164	2.084	0.00048	T	.	.	0.051	0.00187	B	.	.	-2.068296	0.00087	0.002	0.29728045559910354	0.01591	0.00549	0.02518	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999655255135498	0.41424	.	.	.	.	.	.	.	.	.	.	.	.	0.046323	0.05263	2.65	-5.3	0.02527	-4.426000	0.00270	.	.	-5.819000	0.00007	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2972:0.5741:0.1287	10.162	0.42031	228	0.91137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1152.72	57	chrX	153398281	.	C	CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG,G	1152.72	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=2.88;DP=852;ExcessHet=0.0000;FS=5.303;InbreedingCoeff=0.5838;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.23;MQRankSum=-2.910e+00;QD=19.21;ReadPosRankSum=-4.194e+00;SOR=0.786	GT:AD:DP:GQ:PL	0/2:25,0,11:36:99:229,300,757,0,457,426	19	1	0	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	YES	0	1498	15	9	0	33	0.0108947	.	.	25402	not_specified|Malaria,_susceptibility_to|not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Inborn_genetic_diseases|G6PD_CHATHAM	MedGen:CN169374|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	0.985	D	0.632	P	0.000	D	0.999	D	2.07	M	-4.86	D	1.016	D	0.924	D	0.838	3.174	16.62	5.77	2.428	0.512	11.968	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	7571.88	38	chrX	154532990	.	C	T	7571.88	.	AC=4;AF=0.095;AN=42;DP=974;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=4;MLEAF=0.095;MQ=60.00;QD=31.03;SOR=1.010	GT:AD:DP:GQ:PL	1/1:0,124:124:99:3995,372,0	19	2	0	0
chrY	7063966	7063966	G	A	exonic	TBL1Y	.	nonsynonymous SNV	TBL1Y:NM_134258:exon7:c.G274A:p.V92M	.	.	956	548	0	18	0	36	0.0318021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0299007507678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.103e-05	1.1e-05	.	1.103e-05	0.0006	3.58e-06	1.74e-06	1.23e-06	4.6e-07	0	0	0	0	0	0.0006	7.424e-06	7.014e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.204	0.27235	T	0.215	0.30128	B	0.065	0.27321	B	.	.	.	.	0.999921	0.81001	D	2.945	0.84822	M	0.46	0.56281	T	-1.03	0.27052	N	0.571	0.62103	.	.	.	.	.	.	.	0.33000416	0.50245	T	0.029901	0.52319	D	.	.	.	.	0.49676076625	0.49313	0.9279290294866216	0.92770	.	.	.	.	.	0.050777	0.28692	T	-0.106629	0.35327	T	-0.390942	0.34440	T	.	.	.	0.998349	0.99205	D	0.25299135	0.48318	0.24313185	0.49750	0.25299135	0.48318	0.24313185	0.49749	-6.829	0.52774	T	.	.	0.264	0.49816	B	.;.;.	.;.;.	3.785799	0.54463	23.5	0.99600492020469755	0.74160	0.95130	0.63548	D	AEF	.	.	.	.	.	.	.	.	.	0.999980299831397	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.31	2.31	0.27816	8.318000	0.89906	10.814000	0.83826	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	.	.	.	.	.	.;.;.	.	.	.	.	.	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	0.1111	5947.74	496	chrY	7063966	.	G	A	5947.74	.	AC=2;AF=0.111;AN=18;DP=496;ExcessHet=0.0000;FS=0.000;MLEAC=4;MLEAF=0.222;MQ=60.00;QD=30.35;SOR=1.156	GT:AD:DP:GQ:PL	1/1:0,196:196:99:5962,586,0	8	1	0	12