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	PID3567-P	WT	HH	HZ	NC
chr1	1919216	1919224	AGCGGCAGC	-	exonic	TMEM52	.	nonframeshift deletion	TMEM52:NM_178545:exon1:c.42_50del:p.L24_L26del,	.	.	378	1142	2	0	0	2	0.000874891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs939843707	0.0001	0.0001	0.0001	0.0002	0.0020	0.0001	0.0001	0.0009	0.0006	4.521e-05	0.0001	0	0	0	0.0020	0.0002	8.359e-05	0	6.87e-05	6.509e-05	8.924e-05	4.704e-05	0.0002	3.526e-05	2.634e-05	3.417e-05	2.174e-05	2.529e-05	0	0.0002	0	0	0	0	8.845e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1017.08	55	chr1	1919215	.	GAGCGGCAGC	G	1017.08	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0316;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.49;ReadPosRankSum=-1.194e+00;SOR=0.577	GT:AD:DP:GQ:PL	0/1:25,30:55:99:1031,0,883	20	0	1	0
chr1	1968772	1968772	C	T	exonic	CFAP74	.	nonsynonymous SNV	CFAP74:NM_001304360:exon11:c.G1108A:p.E370K,	.	.	406	1093	23	0	0	23	0.010412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.319	B	0.067	B	0.013	N	1.000	D	1.01	L	.	.	-1.099	T	0.065	T	0.204	1.102	9.497	1.72	0.298	1.046	7.273	0.077	.	0.0042	0.00339457	0.0045	0.0006	0.0029	0	0.0014	0.0060	0.0078	0.0058	0.004379	677	154602	rs78791970	0.0050	0.0050	0.0049	0.0051	0.0208	0.0049	0.0048	0.0178	0.0166	0.0009	0.0035	0.0142	2.519e-05	0.0015	0.0208	0.0052	0.0053	0.0055	0.0039	0.0039	0.0044	0.0033	0.0056	0.0036	0.0035	0.0051	0.0050	0.0009	0.0066	0.0035	0.0159	0	0.0009	0.0170	0.0056	0.0066	0.0052	.	.	.	0.1	0.38742	T	0.037	0.20876	B	0.039	0.23607	B	0.013077	0.28961	N	0.272209	0.999422	0.21215	N	.	.	.	.	.	.	.	.	.	0.205	0.22742	-1.0989	0.04227	T	0.065	0.26737	T	9	0.003573656	0.00065	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.44038742271592174	0.43955	.	.	0.449175357819	0.31830	T	0.033186	0.22810	T	-0.537508	0.00347	T	-0.540865	0.18211	T	0.00337827463787867	0.00036	T	0.581242	0.21054	T	0.01893156	0.00418	0.04626207	0.06409	0.01893156	0.00417	0.04626207	0.06409	-5.249	0.39435	T	.	.	0.103	0.18580	B	.	.	0.668202	0.10368	7.093	0.76055038576179967	0.11315	0.40386	0.26425	N	AEFDBI	.	.	.	-1.07651452727169	0.07078	0.3277511	-1.0766580397644	0.08160	0.4000629	0.495151486832356	0.20896	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	0.160397	0.28115	3.67	1.72	0.23498	0.841000	0.27267	1.248000	0.25151	-1.854000	0.00568	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.7254:0.1717:0.1029	7.273	0.25441	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4061.11	170	chr1	1968772	.	C	T	4061.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=2571;ExcessHet=0.1072;FS=0.847;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=2.29;SOR=0.637	GT:AD:DP:GQ:PL	0/1:80,90:170:99:2178,0,1862	19	0	2	0
chr1	4712519	4712521	GCC	-	exonic	AJAP1	.	nonframeshift deletion	AJAP1:NM_001042478:exon2:c.649_651del:p.A218del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245696035	2.397e-05	2.599e-05	2.452e-05	2.34e-05	0.0009	1.74e-05	1.54e-05	0.0006	0.0006	0	0	0	0.0009	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1676.94	130	chr1	4712518	.	GGCC	G	1676.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.833e+00;DP=1129;ExcessHet=0.0000;FS=3.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-3.980e-01;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,50:130:99:0|1:4712518_GGCC_G:1691,0,2968:4712518	20	0	1	0
chr1	6477538	6477538	G	T	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon2:c.C34A:p.P12T	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	244294	Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_recessive_intermediate_C|not_provided|PLEKHG5-related_disorder	MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.911	P	0.392	B	0.000	D	1.000	D	1.67	L	0.65	T	-0.381	T	0.257	T	0.344	2.703	15.00	3.58	0.986	5.113	8.134	0.144	0.149601944655	0.0003	0.000798722	0.0014	0.0003	0.0004	0	0	0.0004	0.0011	0.0084	0.0012484	193	154602	rs140687324	0.0007	0.0007	0.0005	0.0010	0.0085	0.0007	0.0007	0.0080	0.0078	0.0002	0.0005	0.0002	2.519e-05	0	0.0021	0.0002	0.0011	0.0085	0.0004	0.0004	0.0004	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	4.81e-05	0	0.0002	0.0003	0	0	0.0034	0.0004	0.0009	0.0043	0.005	0.63226	D	0.037	0.51737	D	0.911	0.50336	P	0.392	0.44215	B	0.000261	0.46924	D	0.147380	0.537585	0.81001	D	1.5	0.37844	L	0.65	0.71425	T	-2.99	0.63323	D	0.544	0.59986	-0.3808	0.72626	T	0.257	0.62721	T	10	0.009963274	0.00223	T	0.149602	0.83139	D	0.144	0.38394	.	.	0.776347765929	0.77428	0.2151088601651428	0.21426	0.976565210549	0.73585	0.490697264671	0.37536	T	0.565013	0.85503	D	-0.337574	0.05557	T	-0.25128	0.49690	T	0.0498441199077018	0.05473	T	0.951005	0.84742	D	0.14777207	0.33767	0.118723296	0.28657	0.13641535	0.31624	0.1322113	0.31731	-10.308	0.75735	D	.	.	0.110	0.34227	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.516845	0.32515	19.07	0.99192941050664951	0.55024	0.96660	0.70264	D	AEFDBI	0.575831	0.57806	D	0.213610288346665	0.51858	3.363941	0.225171061789757	0.51249	3.308989	0.996786494345912	0.35006	0.706548	0.73137	0	0.588066	0.40923	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.52	3.58	0.40133	3.901000	0.56015	6.337000	0.55470	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.032000	0.13371	0.0909:0.1628:0.7463:0.0	8.134	0.30206	835	0.38313	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1161.98	114	chr1	6477538	.	G	T	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.770e+00;DP=806;ExcessHet=0.0000;FS=0.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=1.39;SOR=0.795	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1176,0,1557	20	0	1	0
chr1	6581000	6581000	G	C	exonic	ZBTB48	.	nonsynonymous SNV	ZBTB48:NM_001278647:exon2:c.G391C:p.G131R	.	.	407	1104	11	0	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.011	B	0.005	B	0.040	N	1.000	N	0.345	N	2.85	T	-1.057	T	0.040	T	0.281	2.395	13.97	5.18	2.410	1.938	16.193	0.035	.	0.0002	0.000998403	0.0021	0.0001	0.0046	0	0	0.0004	0.0033	0.0104	0.0017076	264	154602	rs200132214	0.0009	0.0009	0.0005	0.0012	0.0107	0.0008	0.0008	0.0102	0.0099	0.0002	0.0024	0.0002	0	0	0.0024	0.0001	0.0009	0.0107	0.0005	0.0005	0.0003	0.0006	0.0091	0.0004	0.0003	0.0070	0.0062	4.812e-05	0	0.0007	0.0003	0	0	0.0068	0.0002	0	0.0091	0.081	0.33418	T	0.465	0.35710	T	0.011	0.15914	B	0.005	0.11217	B	0.039961	0.24111	N	0.459886	1	0.08975	N	.	.	.	1.8	0.25509	T	-1.15	0.29525	N	0.109	0.09490	-1.0574	0.12414	T	0.040	0.17234	T	10	0.0033471286	0.00058	T	.	.	.	0.035	0.08770	0.217	0.13788	0.043077524339	0.03247	0.36353198169895623	0.36267	0.450729479495	0.44836	0.386905312538	0.23232	T	0.063585	0.32215	T	-0.519697	0.00442	T	-0.511323	0.21179	T	0.0335401307800138	0.02561	T	0.806219	0.45479	T	0.112690106	0.26621	0.12003911	0.28972	0.112690106	0.26620	0.12003911	0.28971	-4.249	0.27455	T	.	.	0.133	0.40858	B	.;.;.	.;.;.	2.297345	0.29395	18.11	0.99599395657260059	0.74101	0.22629	0.21810	N	ALL	0.166628	0.29322	N	-0.53444359738725	0.20974	1.109666	-0.409121664179864	0.24730	1.355839	0.999999999999931	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.721622	0.92947	0	.	.	5.18	5.18	0.71140	1.350000	0.33615	7.458000	0.59026	0.672000	0.70159	0.016000	0.19238	1.000000	0.68203	0.559000	0.30388	0.0:0.0:1.0:0.0	16.193	0.81824	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1447.98	142	chr1	6581000	.	G	C	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.051;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-5.490e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1462,0,1936	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	0/1:24,16:40:99:.:.:103,0,440	8	0	10	3
chr1	10639087	10639098	TCGTCGTCGTCC	-	exonic	CASZ1	.	nonframeshift deletion	CASZ1:NM_001079843:exon21:c.5124_5135del:p.E1708_D1711del,	.	.	549	931	4	1	37	43	0.00321199	.	.	695942	CASZ1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	.	0.0073	0.0067	0.0030	0.0057	0.0025	0.0096	0.0065	0.0059	0.0002689	7	26028	rs770782033	0.0070	0.0056	0.0072	0.0068	0.0076	0.0069	0.0068	0.0074	0.0073	0.0018	0.0010	0.0007	0.0035	0.0018	0.0032	0.0076	0.0058	0.0066	0.0058	0.0057	0.0062	0.0054	0.0082	0.0055	0.0053	0.0076	0.0074	0.0023	0.0011	0.0064	0.0016	0.0058	0.0016	0.0165	0.0082	0.0097	0.0078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	307.44	13	chr1	10639086	.	GTCGTCGTCGTCC	G,*	307.44	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.869;DP=416;ExcessHet=0.3300;FS=1.130;InbreedingCoeff=-0.0911;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=6.99;ReadPosRankSum=1.92;SOR=0.527	GT:AD:DP:GQ:PL	0/1:5,8,0:13:99:321,0,186,336,210,546	17	0	1	1
chr1	10639086	10639098	GTCGTCGTCGTCC	0	exonic	CASZ1	.	.	.	.	.	549	931	4	1	37	43	0.00321199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	307.44	13	chr1	10639086	.	GTCGTCGTCGTCC	G,*	307.44	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.869;DP=416;ExcessHet=0.3300;FS=1.130;InbreedingCoeff=-0.0911;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=6.99;ReadPosRankSum=1.92;SOR=0.527	GT:AD:DP:GQ:PL	0/1:5,8,0:13:99:321,0,186,336,210,546	17	0	1	1
chr1	10639099	10639104	TCGTCG	-	exonic	CASZ1	.	nonframeshift deletion	CASZ1:NM_001079843:exon21:c.5118_5123del:p.D1706_D1707del,	.	.	533	983	4	1	1	7	0.0030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.025e-05	1.328e-05	9.966e-06	1.054e-05	0.0011	5.18e-06	3.78e-06	0.0003	0.0002	0.0002	0	0	0	0	0.0011	2.434e-06	6.002e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	181.02	13	chr1	10639098	.	CTCGTCG	C,*	181.02	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.550e-01;DP=444;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0502;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=1.02;SOR=0.836	GT:AD:DP:GQ:PL	0/2:5,0,8:13:99:321,336,546,0,210,186	19	0	1	0
chr1	10639098	10639104	CTCGTCG	0	exonic	CASZ1	.	.	.	.	.	533	983	4	1	1	7	0.0030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	181.02	13	chr1	10639098	.	CTCGTCG	C,*	181.02	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.550e-01;DP=444;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0502;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=1.02;SOR=0.836	GT:AD:DP:GQ:PL	0/2:5,0,8:13:99:321,336,546,0,210,186	19	0	1	0
chr1	13052490	13052490	T	C	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon3:c.A503G:p.Y168C,	.	.	615	902	5	0	0	5	0.00276396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1382143376	0.0002	0.0007	0.0002	0.0002	0.0011	0.0002	0.0002	0.0007	0.0005	0.0011	0.0004	0.0002	0.0003	0.0003	0	0.0002	7.379e-05	0.0001	0.0007	0.0014	0.0008	0.0005	0.0031	0.0005	0.0005	0.0011	0.0006	0.0002	0	0.0003	0.0010	0	0.0003	0	0.0008	0	0.0031	.	.	.	0.149	0.32568	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.14102495	0.26800	T	.	.	.	.	.	.	.	.	.	0.27260116635704335	0.27173	.	.	.	.	.	0.143287	0.47933	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.809	0.44653	T	.	.	0.069	0.03266	B	.	.	0.253280	0.06325	2.784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.298000	0.08302	-13.872000	0.00434	-0.702000	0.04048	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	54.41	60	chr1	13052490	.	T	C	54.41	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=631;ExcessHet=0.0000;FS=10.977;InbreedingCoeff=-0.0563;MLEAC=1;MLEAF=0.026;MQ=24.28;MQRankSum=-2.238e+00;QD=0.91;ReadPosRankSum=0.146;SOR=2.681	GT:AD:DP:GQ:PL	0/1:51,9:60:67:67,0,1296	18	0	1	2
chr1	13053436	13053436	G	C	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon2:c.C224G:p.P75R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.019	B	0.022	B	0.899	N	1.000	N	2.685	M	3.43	T	-0.981	T	0.027	T	0.301	-0.863	0.519	-1.94	-0.933	0.566	6.875	0.097	0.000478912501301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.128e-07	6.854e-07	1.418e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	0.899348	0.07345	N	1.056830	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.097	0.07811	-0.9813	0.34701	T	0.027	0.11441	T	10	0.076100975	0.11844	T	4.79E-4	0.00133	T	.	.	.	.	0.043077524339	0.03247	0.36389736855637117	0.36303	.	.	.	.	.	0.090464	0.38591	T	-0.163868	0.26168	T	-0.473161	0.25177	T	0.0512777790427208	0.05724	T	.	.	.	0.020923752	0.00670	0.042152587	0.04955	0.020923752	0.00669	0.042152587	0.04955	-6.527	0.50494	T	.	.	0.139	0.30397	B	.	.	-0.171900	0.03238	0.544	0.49923010541449675	0.04294	0.00530	0.02456	N	AEFI	0.028404	0.02496	N	-1.30232259779536	0.03649	0.1633738	-1.49207149020522	0.02409	0.1107352	2.7981617420529E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	-1.94	0.07158	0.291000	0.18748	-4.802000	0.01980	-1.793000	0.00635	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.5461:0.4539:0.0	6.875	0.23323	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	1736.91	122	chr1	13053436	.	G	C	1736.91	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.787;DP=871;ExcessHet=0.0000;FS=1.563;InbreedingCoeff=-0.0359;MLEAC=1;MLEAF=0.026;MQ=44.11;MQRankSum=-9.000e-02;QD=14.24;ReadPosRankSum=0.615;SOR=0.930	GT:AD:DP:GQ:PL	0/1:58,64:122:99:1750,0,1391	18	0	1	2
chr1	13392272	13392272	T	C	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon3:c.T1195C:p.C399R,	.	.	515	999	7	1	0	9	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.345	N	1.000	N	-1.825	N	0.99	T	-0.994	T	0.024	T	0.073	-2.811	0	-0.98	-0.818	-1.458	5.439	0.018	0.00088713680111	.	0.00599042	0.0040	0	0	0	0	0	0	0.0405	0.0011526	30	26028	rs576034885	0.0009	0.0009	0.0006	0.0013	0.0133	0.0009	0.0009	0.0127	0.0124	0.0001	4.473e-05	0	0.0001	0	0.0005	8.545e-05	0.0014	0.0133	0.0007	0.0007	0.0004	0.0010	0.0187	0.0005	0.0005	0.0156	0.0144	4.811e-05	0	0	0	0.0006	0	0	5.882e-05	0	0.0187	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.344720	0.04209	N	1.557610	1	0.08975	N	-1.32	0.00691	N	0.99	0.41750	T	2.5	0.00234	N	0.021	0.00339	-1.0323	0.19713	T	0.021	0.08963	T	10	0.0054038167	0.00119	T	.	.	.	0.019	0.03383	0.4	0.42917	0.043077524339	0.03247	0.19658248093613728	0.19575	2.68827321764	0.98538	0.502897381783	0.39231	T	0.004757	0.04174	T	-0.379125	0.03155	T	-0.782363	0.02383	T	0.0273867890650157	0.01599	T	0.180082	0.01793	T	0.06392884	0.13513	0.11678504	0.28192	0.06392884	0.13512	0.11678504	0.28191	-2.628	0.06719	T	.	.	0.042	0.00023	B	.	.	-0.414957	0.02158	0.209	0.13397746507913658	0.00263	0.00032	0.00291	N	AEFI	0.010824	0.00084	N	-2.16041104898345	0.00094	0.004020257	-2.14393565467231	0.00149	0.006563891	1.1172261495604E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.68	0.07773	-0.908000	0.04171	-20.000000	0.00162	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2552:0.2925:0.0:0.4523	2.058	0.03368	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2992.98	163	chr1	13392272	.	T	C	2992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.116e+00;DP=1117;ExcessHet=0.0000;FS=6.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=-1.514e+00;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,83:163:99:0|1:13392272_T_C:3007,0,2994:13392272	20	0	1	0
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	0/1:112,30:142:29:29,0,2574	15	0	6	0
chr1	16410043	16410043	C	T	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon4:c.G76A:p.E26K	.	.	399	1109	14	0	0	14	0.0062724	0.0682	0.342	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.95	P	0.375	B	0.170	N	1.000	N	1.1	L	-0.79	T	-0.598	T	0.253	T	0.171	4.135	21.3	0.615	0.027	0.168	11.609	0.221	.	0.0004	0.000599042	0.0010	0.0002	0.0011	0	0	0.0014	0.0026	0.0008	0.0009702	150	154602	rs201182640	0.0008	0.0008	0.0008	0.0008	0.0106	0.0008	0.0008	0.0083	0.0076	0.0004	0.0010	0.0049	0	1.96e-05	0.0106	0.0007	0.0017	0.0007	0.0007	0.0007	0.0008	0.0007	0.0012	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0012	0.0043	0	0	0.0136	0.0009	0.0019	0.0002	0.009	0.91255	D	0.036	0.62352	D	0.793	0.44725	P	0.196	0.36635	B	0.170082	0.17400	N	0.481200	0.708219	0.30039	N	2.255	0.64187	M	-0.86	0.74477	T	-1.73	0.41046	N	0.309	0.34874	-0.5983	0.64887	T	0.253	0.62258	T	10	0.0063958764	0.00146	T	0.02057	0.43191	T	0.221	0.51721	.	.	0.409124616982	0.40530	0.2156261966168259	0.21478	0.207277676253	0.23183	0.401835441589	0.25325	T	0.004957	0.04384	T	-0.379487	0.03139	T	-0.363435	0.37655	T	0.029477732060472	0.01909	T	0.591441	0.21800	T	0.08622826	0.20034	0.113605924	0.27418	0.08622826	0.20033	0.113605924	0.27417	-3.981	0.29216	T	.	.	0.104	0.32922	B	.;.	.;.	3.894111	0.56683	23.8	0.99815731946285613	0.89885	0.17090	0.19685	N	AEFDBI	0.117871	0.23073	N	-0.364218364561367	0.26753	1.462499	-0.432620193178793	0.24046	1.31461	0.999546033684751	0.40300	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	0.615	0.16784	-0.163000	0.09986	0.415000	0.18155	0.534000	0.24903	0.079000	0.22314	0.986000	0.30841	0.499000	0.28994	0.0:0.3971:0.6029:0.0	11.609	0.50307	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	63	chr1	16410043	.	C	T	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=949;ExcessHet=0.0000;FS=2.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.63;ReadPosRankSum=0.206;SOR=1.046	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,32:63:99:0|1:16410043_C_T:1188,0,1163:16410043	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:576,142:718:99:2415,0,16338	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	0/1:805,186:991:99:2687,0,21060	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	0/1:814,194:1008:99:.:.:4320,0,29164	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	0/1:898,96:994:38:.:.:38,0,35669	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	0/1:569,204:773:99:4456,0,18880	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	0/1:502,253:755:99:5846,0,16049	1	0	20	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,16:70:99:0|1:16579293_A_G:509,0,2219:16579293	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|1:54,16:70:99:0|1:16579293_A_G:509,0,2219:16579293	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	0/1:55,16:71:99:.:.:485,0,1465	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,13:67:99:.:.:285,0,2201	8	0	13	0
chr1	16585589	16585589	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	444	979	99	0	0	99	0.0481283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2537	0.3542	0.2037	0.3206	0.2384	0.2507	0.2699	0.2182	0.0049562	129	26028	rs545990928	0.0003	0.0030	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0003	3.641e-05	1.99e-05	0.0006	1.297e-05	2.716e-05	0.0002	5.29e-06	2.47e-06	8.1e-06	3.03e-06	4.886e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	363.95	124	chr1	16585589	.	A	G	363.95	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.337e+00;DP=2025;ExcessHet=0.3300;FS=5.004;InbreedingCoeff=-0.0825;MLEAC=3;MLEAF=0.071;MQ=35.20;MQRankSum=-1.963e+00;QD=1.14;ReadPosRankSum=1.04;SOR=1.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,9:124:32:0|1:16585589_A_G:32,0,4802:16585589	18	0	3	0
chr1	16585590	16585590	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	442	981	99	0	0	99	0.0480349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2530	0.3520	0.2026	0.3183	0.2384	0.2504	0.2685	0.2177	0.0049562	129	26028	rs201157551	0.0004	0.0031	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0004	3.636e-05	3.308e-05	0.0006	3.883e-05	2.707e-05	0.0002	1.267e-05	8.03e-06	8.06e-06	3.01e-06	4.862e-05	0	6.573e-05	0	0.0002	0	0	1.481e-05	0	0	.	.	.	0.964	0.02582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00372	.	.	.	.	.	.	.	0.0019111931	0.00026	T	.	.	.	.	.	.	.	.	.	0.014674221529618755	0.01424	.	.	0.494962483644	0.38127	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.877512	0.59164	D	.	.	.	.	.	.	.	.	-6.447	0.49876	T	.	.	0.057	0.01328	B	.;.	.;.	-0.545511	0.01726	0.128	0.38162018612620946	0.02558	0.00009	0.00143	N	AEFI	0.015283	0.00284	N	.	.	.	.	.	.	1.12467906276832E-4	0.05269	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	-1.085000	0.03500	-20.000000	0.00162	-0.421000	0.05231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	364.01	124	chr1	16585590	.	T	C	364.01	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.45;DP=2032;ExcessHet=0.3300;FS=5.004;InbreedingCoeff=-0.0838;MLEAC=3;MLEAF=0.071;MQ=35.21;MQRankSum=-1.963e+00;QD=1.14;ReadPosRankSum=0.634;SOR=1.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,9:124:32:0|1:16585589_A_G:32,0,4802:16585589	18	0	3	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P,	.	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.999	D	0.001	D	.	.	.	.	.	.	-0.707	T	0.205	T	0.394	0.985	9.021	.	0.502	4.380	6.740	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	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	0.2143	10056.01	467	chr1	16757526	.	C	G	10056.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.907e+00;DP=7504;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=40.50;MQRankSum=-1.159e+00;QD=2.85;ReadPosRankSum=0.494;SOR=0.679	GT:AD:DP:GQ:PL	0/1:411,56:467:99:378,0,11915	12	0	9	0
chr1	16759495	16759495	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon7:c.G907A:p.V303I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.714	P	0.047	B	.	.	.	.	.	.	.	.	-1.040	T	0.039	T	0.123	-0.140	3.316	.	-0.000	0.649	.	0.012	.	.	.	3.942e-05	0	0	0	0	7.281e-05	0	0	2.59e-05	4	154602	rs763879657	9.141e-05	0.0001	8.755e-05	9.536e-05	0.0001	7.816e-05	7.321e-05	9.544e-05	8.882e-05	6.859e-05	0	0	0	0	0	0.0001	7.229e-05	0	9.448e-06	5.033e-05	1.804e-05	0	1.966e-05	0	0	.	.	0	0	0	0	0	0	0	1.966e-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	174.98	119	chr1	16759495	.	C	T	174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=1938;ExcessHet=0.0000;FS=2.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.15;MQRankSum=-6.240e-01;QD=1.47;ReadPosRankSum=0.460;SOR=0.678	GT:AD:DP:GQ:PL	0/1:102,17:119:99:189,0,2516	20	0	1	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	0/1:107,22:129:99:393,0,3430	2	7	12	0
chr1	17270928	17270928	C	T	exonic	PADI3	.	nonsynonymous SNV	PADI3:NM_016233:exon8:c.C881T:p.A294V,	Uncombable hair syndrome, Autosomal recessive	YES	411	1102	9	0	0	9	0.00406688	.	.	361772	not_provided|PADI3-related_disorder|Uncombable_hair_syndrome_1|not_specified	MedGen:C3661900|.|MONDO:MONDO:0020736,MedGen:C4551573,OMIM:191480,Orphanet:1410|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.000	D	1.000	D	3.025	M	1.44	T	-0.568	T	0.195	T	0.364	5.382	34	5.55	2.613	7.236	18.078	0.448	.	0.0074	0.00279553	0.0067	0.0009	0.0020	0	0.0056	0.0097	0.0055	0.0052	0.006714	1038	154602	rs144080386	0.0077	0.0077	0.0077	0.0077	0.0084	0.0076	0.0075	0.0082	0.0082	0.0011	0.0031	0.0162	2.519e-05	0.0073	0.0028	0.0084	0.0069	0.0059	0.0062	0.0062	0.0062	0.0062	0.0093	0.0059	0.0058	0.0087	0.0085	0.0016	0	0.0055	0.0181	0.0002	0.0068	0.0034	0.0093	0.0024	0.0046	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.053221	0.99997	0.53665	D	3.14	0.88230	M	1.44	0.32722	T	-3.64	0.69835	D	0.985	0.99410	-0.5675	0.66114	T	0.195	0.54927	T	10	0.02340281	0.00611	T	.	.	.	0.448	0.74935	.	.	0.514980250562	0.51141	0.7737417385154324	0.77324	0.51335870114	0.49332	0.731342971325	0.71702	T	0.222814	0.58677	T	-0.365675	0.03819	T	-0.287656	0.46015	T	0.0248844591339173	0.01257	T	.	.	.	0.7620526	0.81574	0.66998434	0.80638	0.7620526	0.81576	0.66998434	0.80639	-7.261	0.55918	T	.	.	0.469	0.63129	A	.	.	4.461336	0.69433	25.4	0.99917547079578173	0.98518	0.98826	0.87362	D	AEFDI	0.786183	0.71634	D	0.903074328166432	0.91909	11.12968	0.851287722356534	0.93089	11.81852	0.999999999992077	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	7.376000	0.78918	4.062000	0.41595	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.978000	0.57271	0.0:1.0:0.0:0.0	18.078	0.89362	689	0.59000	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	836.98	77	chr1	17270928	.	C	T	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=801;ExcessHet=0.0000;FS=0.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.067;SOR=0.808	GT:AD:DP:GQ:PL	0/1:42,35:77:99:851,0,988	20	0	1	0
chr1	18955909	18955909	C	G	exonic	IFFO2	.	nonsynonymous SNV	IFFO2:NM_001136265:exon1:c.G424C:p.G142R,	.	.	416	1102	4	0	0	4	0.00181159	.	.	2379426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.905	P	0.209	B	.	.	0.937	D	0	N	-1.82	D	-0.615	T	0.264	T	0.326	3.152	16.54	2.54	0.587	-0.083	6.876	0.313	0.898494981951	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs370494370	0.0002	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0017	0.0016	0	0.0001	0.0012	3.753e-05	0	0.0015	4.883e-05	0.0003	0.0021	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0	0	0.0006	0.0009	0	0	0	0.0001	0.0005	0.0014	0.066	0.36113	T	0.29	0.21011	T	0.905	0.49920	P	0.209	0.37260	B	.	.	.	.	0.937335	0.37187	D	0.895	0.22405	L	-1.82	0.84047	D	-0.64	0.18670	N	0.196	0.21580	-0.6149	0.64200	T	0.264	0.63490	T	9	0.25242892	0.42596	T	0.898495	0.99234	D	0.313	0.63482	0.455	0.51938	0.900172032954	0.89917	0.38319869897876485	0.38234	2.24294379734	0.96033	0.897528529167	0.96162	D	0.00567	0.05119	T	-0.0026855	0.51283	T	-0.241634	0.50640	T	0.532484601304938	0.33826	D	0.615438	0.23533	T	0.08733064	0.20331	0.11842355	0.28586	0.08733064	0.20331	0.11842355	0.28585	-4.733	0.33801	T	.	.	0.250	0.48489	B	.	.	2.975611	0.39672	21.0	0.99031981466391183	0.50830	0.36280	0.25497	N	ALL	0.140310	0.26218	N	-0.246324631323865	0.31250	1.750409	-0.200201550603109	0.31530	1.785231	0.999999999999944	0.74766	0.623204	0.39778	0	0.218748	0.04544	0	0.378051	0.06126	2	0.249971	0.05119	0	.	.	3.46	2.54	0.29674	1.487000	0.35149	1.889000	0.29504	0.428000	0.20880	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8623:0.0:0.1377	6.876	0.23329	917	0.20147	Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	537.98	32	chr1	18955909	.	C	G	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.414e+00;DP=725;ExcessHet=0.0000;FS=5.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.81;ReadPosRankSum=0.917;SOR=0.499	GT:AD:DP:GQ:PL	0/1:10,22:32:99:552,0,241	20	0	1	0
chr1	22953698	22953698	A	G	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.T1085C:p.L362P,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267385792829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.005	0.25186	L	0.79	0.49068	T	.	.	.	0.596	0.61511	.	.	.	.	.	.	.	0.4733123	0.59993	T	0.267386	0.89745	D	.	.	.	.	0.778704876926	0.77666	0.9405377060150198	0.94034	.	.	.	.	.	0.119685	0.44139	T	-0.0896998	0.38126	T	-0.366624	0.37283	T	.	.	.	0.762324	0.38756	T	0.49523002	0.66814	0.6361182	0.78755	0.49523002	0.66815	0.6361182	0.78755	-12.603	0.87664	D	.	.	0.721	0.78943	P	.;.	.;.	3.995866	0.58848	24.0	0.75442064445901258	0.11077	0.90810	0.52303	D	AEFDBCI	0.796248	0.72344	D	.	.	.	.	.	.	0.835809893442571	0.24776	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.61	3.46	0.38718	4.920000	0.63089	10.789000	0.83761	0.536000	0.24961	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.8297:0.0:0.0:0.1703	8.719	0.33591	784	0.47045	Beta-lactamase-related;Beta-lactamase-related	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	51	chr1	22953698	.	A	G	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.623e+00;DP=822;ExcessHet=0.0000;FS=1.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-5.790e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:20,31:51:99:655,0,502	20	0	1	0
chr1	25321924	25321924	C	A	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon9:c.C691A:p.H231N	.	.	561	959	2	0	0	2	0.00104167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.947	P	0.577	P	.	.	1.000	N	2.125	M	2.27	T	-1.039	T	0.048	T	0.144	1.208	9.906	0.383	-0.017	-0.082	3.678	0.055	0.00254051477704	.	.	2.816e-05	0	0	0	0	1.804e-05	0	0.0001	1.94e-05	3	154602	rs768918814	8.294e-06	1.511e-05	6.637e-06	9.949e-06	0.0002	4.19e-06	3.06e-06	4.033e-05	2.834e-05	0	0	0	0	0	0.0002	1.128e-06	1.936e-05	8.763e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.493	0.11443	T	0.947	0.53479	P	0.577	0.50090	P	.	.	.	.	1	0.08975	N	2.3	0.65703	M	2.27	0.17431	T	-2.05	0.47008	N	0.401	0.44187	-1.0391	0.17587	T	0.048	0.20632	T	9	0.1642071	0.30727	T	0.002541	0.05093	T	0.055	0.15663	0.442	0.49811	0.0401082797425	0.02173	.	.	0.292392038772	0.31654	0.341399729252	0.16648	T	0.005655	0.05100	T	-0.430386	0.01474	T	-0.65049	0.08919	T	0.201585203409195	0.20502	T	0.916508	0.70155	D	0.054455295	0.10451	0.0427518	0.05165	0.049525507	0.08805	0.0581999	0.10712	-4.007	0.23909	T	0.42897852459056496	0.51643	0.100	0.17232	B	.	.	0.878187	0.12511	9.043	0.90593185964948486	0.19847	0.01849	0.05720	N	AEFBI	0.100102	0.20136	N	-0.604619758385686	0.18804	0.9792417	-0.85436441206232	0.13184	0.6824893	5.30438449575536E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.52	0.383	0.15462	0.094000	0.14946	0.811000	0.21752	0.284000	0.18682	0.000000	0.06391	0.093000	0.22564	0.057000	0.15750	0.0:0.5775:0.2593:0.1632	3.678	0.07834	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2584.33	196	chr1	25321924	.	C	A	2584.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.401e+00;DP=900;ExcessHet=0.0000;FS=10.793;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.83;MQRankSum=-8.110e-01;QD=13.19;ReadPosRankSum=0.312;SOR=0.309	GT:AD:DP:GQ:PL	0/1:89,107:196:99:2598,0,2181	19	0	1	1
chr1	26244166	26244166	G	T	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001319944:exon3:c.G56T:p.S19I	.	.	426	1091	5	0	0	5	0.00228624	0.9925	0.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	B	0.014	B	0.142	N	1.000	D	0.895	L	1.49	T	-1.072	T	0.032	T	0.124	2.264	13.53	3.63	2.398	1.879	5.591	0.028	0.0103109528801	0.0035	0.00239617	0.0035	0.0010	0.0032	0	0.0011	0.0053	0.0012	0.0005	0.0034346	531	154602	rs139903267	0.0049	0.0049	0.0050	0.0048	0.0059	0.0048	0.0047	0.0058	0.0058	0.0004	0.0028	0.0001	0	0.0013	0.0024	0.0059	0.0041	0.0004	0.0033	0.0033	0.0035	0.0032	0.0056	0.0031	0.0030	0.0051	0.0050	0.0011	0.0022	0.0037	0	0	0.0010	0	0.0056	0.0057	0.0002	0.019	0.50132	D	0.191	0.28391	T	0.001	0.18235	B	0.001	0.16862	B	0.142071	0.18256	N	0.513245	0.988608	0.81001	D	0	0.06538	N	1.49	0.31470	T	-1.22	0.30964	N	0.354	0.39558	-1.0724	0.08894	T	0.032	0.13592	T	9	0.00421682	0.00084	T	0.010311	0.26698	T	0.028	0.06331	.	.	0.361558571881	0.35766	0.28108409604437223	0.28021	0.095645869351	0.10807	0.331831932068	0.15211	T	0.00999	0.09054	T	-0.552832	0.00280	T	-0.565101	0.15900	T	0.00865097157936644	0.00106	T	0.666133	0.27528	T	0.055065103	0.10651	0.05256894	0.08686	0.055065103	0.10650	0.05256894	0.08685	-4.748	0.34003	T	.	.	0.094	0.14568	B	.;.	.;.	3.357069	0.46327	22.3	0.97965966452879161	0.37217	0.90393	0.51533	D	AEFDBI	0.239166	0.36117	N	-0.143679909077754	0.35503	2.040171	0.017761710571029	0.40539	2.421037	0.999918596763669	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.63	3.63	0.40741	2.176000	0.42128	3.739000	0.39644	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.181:0.0:0.819:0.0	5.591	0.16583	445	0.79730	.;.	.	.	.	.	.	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	472.98	28	chr1	26244166	.	G	T	472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.747;DP=551;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.89;ReadPosRankSum=-3.600e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:10,18:28:99:487,0,220	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,33,0:33:99:1|1:26282270_C_T:1465,99,0,1465,99,1465:26282270	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|1:27,23,0:50:99:0|1:26282270_C_T:877,0,986,958,1055,2013:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,22,27:49:99:0|1:26282270_C_T:2038,1060,982,924,0,843:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,27,23:50:99:0|1:26282270_C_T:2080,959,875,1060,0,979:26282270	1	1	5	4
chr1	26344428	26344428	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G2230A:p.E744K,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.989	T	0.046	T	0.109	1.930	12.41	-0.763	-0.126	-0.616	8.377	0.025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370083834	5.833e-06	6.84e-06	7.162e-06	4.455e-06	1.33e-05	2.51e-06	1.81e-06	2.03e-06	1.33e-06	0	0	0	0	0	0	5.638e-06	1.762e-05	1.33e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.652	0.06690	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9892	0.32803	T	0.046	0.19879	T	5	0.08781037	0.15059	T	.	.	.	.	.	.	.	0.365317461125	0.36143	0.24715112413092033	0.24629	.	.	0.296991467476	0.09954	T	.	.	.	-0.373527	0.03420	T	-0.614845	0.11594	T	0.041263439797121	0.03920	T	0.587941	0.21519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04599	B	.;.;.	.;.;.	0.197240	0.05827	2.266	0.95551349736856361	0.27214	0.03493	0.08662	N	AEFBI	.	.	.	-0.710346482922281	0.15730	0.7953186	-0.85990584790595	0.13050	0.674836	0.0139665839988092	0.12534	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.01	-0.763	0.10475	-0.411000	0.07205	-1.152000	0.06178	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.196000	0.21779	0.0:0.45:0.0:0.55	8.377	0.31612	358	0.85037	.;.;.	.	.	.	.	.	Uncertain significance	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	1535.98	136	chr1	26344428	.	C	T	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.350;SOR=0.723	GT:AD:DP:GQ:PL	0/1:75,61:136:99:1550,0,1819	20	0	1	0
chr1	26827078	26827078	G	C	exonic	ZDHHC18	.	nonsynonymous SNV	ZDHHC18:NM_032283:exon1:c.G274C:p.G92R,	.	.	357	1164	1	0	0	1	0.000429369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.894	P	0.001	U	1.000	D	1.57	L	0.93	T	-0.960	T	0.141	T	0.606	2.862	15.53	0.601	1.331	3.739	7.293	0.260	0.660678991211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.09687	T	0.21	0.26714	T	0.997	0.70673	D	0.894	0.63417	P	0.001051	0.40475	U	0.163051	0.991715	0.41456	D	2.115	0.58683	M	0.93	0.44065	T	-6.54	0.91786	D	0.666	0.67477	-0.9596	0.39255	T	0.141	0.46147	T	10	0.81984043	0.81196	D	0.660679	0.97149	D	0.260	0.57221	0.66	0.79791	0.329020015101	0.32502	0.8107292911252596	0.81027	1.68471132143	0.90044	0.919420659542	0.98279	D	0.202458	0.56063	T	-0.0637104	0.42324	T	-0.329292	0.41547	T	0.992928445339203	0.83541	D	0.870213	0.57527	D	0.41585687	0.61815	0.31782857	0.57755	0.41585687	0.61816	0.31782857	0.57754	-7.964	0.60824	D	.	.	0.773	0.76063	P	.	.	4.716721	0.75825	26.4	0.99325156065475573	0.59546	0.78881	0.38987	D	AEFDBHCIJ	0.572757	0.57621	D	0.214381867123978	0.51896	3.367422	0.11181061666156	0.45151	2.783473	0.999999999998305	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	2.87	0.601	0.16708	3.940000	0.56310	2.441000	0.32772	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.113:0.1751:0.7119:0.0	7.293	0.25548	488	0.76887	.	.	.	.	.	.	Uncertain significance	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	488.98	45	chr1	26827078	.	G	C	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.659e+00;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=2.86;SOR=0.770	GT:AD:DP:GQ:PL	0/1:20,25:45:99:503,0,417	20	0	1	0
chr1	29070593	29070593	T	C	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_001376016:exon18:c.T2465C:p.V822A	Elliptocytosis-1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42774054	0.57286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242976	0.03512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.39494	B	.;.;.	.;.;.	3.228788	0.44022	21.9	0.84767869384258832	0.15486	0.94921	0.62793	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99510039121712	0.33954	0.099367	0.02607	0	0.097471	0.02872	0	0.060301	0.00762	0	0.117559	0.03655	0	0.952	0.62432	5.52	5.52	0.82153	5.643000	0.67569	7.880000	0.72453	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.976	0.70930	443	0.79878	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	36.03	3	chr1	29070593	.	T	C	36.03	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-9.670e-01;DP=48;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-9.670e-01;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	8	0	1	12
chr1	37969440	37969440	G	C	exonic	SF3A3	.	nonsynonymous SNV	SF3A3:NM_001320830:exon12:c.C1036G:p.L346V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	3.36	M	.	.	0.330	D	0.601	D	0.86	4.922	28.5	5.5	2.769	4.516	19.786	0.695	0.0404402354651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	.	.	.	-2.62	0.56301	D	0.735	0.73555	0.330	0.88030	D	0.601	0.85821	D	9	0.8010634	0.79507	D	0.04044	0.59376	D	0.695	0.88960	0.666	0.80401	0.502157479645	0.49853	0.9475430450175392	0.94737	2.2311931778	0.95933	0.866872191429	0.92117	D	0.474386	0.80585	T	0.382666	0.88879	D	0.311897	0.88739	D	0.968859957868249	0.68386	D	0.985781	0.95172	D	0.83350277	0.86148	0.68840945	0.81671	0.83350277	0.86150	0.68840945	0.81671	-10.738	0.78201	D	.	.	0.999	0.98631	P	.	.	5.166724	0.86585	29.0	0.99865253356157146	0.94366	0.98916	0.88583	D	AEFBI	0.696538	0.65485	D	0.88846885093404	0.91182	10.756	0.81904994074954	0.91085	10.71129	0.999999998534391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.656000	0.61178	11.718000	0.94767	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.786	0.96436	458	0.78890	Domain of unknown function DUF3449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	31.98	65	chr1	37969440	.	G	C	31.98	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.749e+00;DP=1843;ExcessHet=0.1072;FS=242.021;InbreedingCoeff=-0.1382;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=-8.600e-02;SOR=11.492	GT:AD:DP:GQ:PL	0/1:46,19:65:20:20,0,1028	13	0	2	6
chr1	39447702	39447702	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon77:c.A13595G:p.N4532S,	.	.	431	1090	1	0	0	1	0.000458505	.	.	2198956	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.995	D	0.000	D	1.000	D	1.53	L	0.8	T	-0.654	T	0.252	T	0.102	3.466	17.75	6.08	2.333	4.308	16.644	0.233	0.0113984610414	.	.	4.134e-05	0	0	0	0	2.997e-05	0.0011	0.0001	3.23e-05	5	154602	rs773396574	1.505e-05	1.505e-05	8.167e-06	2.2e-05	0.0001	9.85e-06	8.41e-06	7.997e-05	6.236e-05	2.987e-05	0	0	0	0	0	7.194e-06	1.656e-05	0.0001	5.256e-05	5.253e-05	1.285e-05	9.416e-05	0.0003	2.557e-05	1.83e-05	8.88e-05	5.388e-05	0	0	0.0003	0	0	0	0	4.409e-05	0	0.0002	0.045	0.44694	D	0.078	0.42261	T	0.998	0.73220	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	0.999966	0.58761	D	.	.	.	0.8	0.48769	T	-3.82	0.80851	D	0.342	0.43995	-0.6542	0.62530	T	0.252	0.62131	T	10	0.27025628	0.44556	T	0.011398	0.28987	T	0.233	0.53499	0.375	0.38830	0.45509904304	0.45135	0.09045480576465417	0.08978	.	.	0.437051713467	0.30174	T	0.130763	0.75234	T	-0.37652	0.03277	T	-0.518943	0.20401	T	0.872496247291565	0.52237	D	0.972478	0.90093	D	0.36965922	0.58560	0.37980813	0.63027	0.36965922	0.58560	0.37980813	0.63027	-5.859	0.45876	T	.	.	0.079	0.08609	B	.;.;.;.;.	.;.;.;.;.	2.414915	0.31045	18.62	0.99637430341738065	0.76449	0.97099	0.72683	D	AEFBI	0.607799	0.59762	D	0.657768229568064	0.76873	6.567261	0.679335738714515	0.80814	7.382967	0.999998959407411	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	4.295000	0.58846	7.105000	0.57548	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.644	0.85012	753	0.51500	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2867.98	232	chr1	39447702	.	A	G	2867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e+00;DP=964;ExcessHet=0.0000;FS=2.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-7.740e-01;SOR=0.545	GT:AD:DP:GQ:PL	0/1:119,113:232:99:2882,0,3284	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	1/1:0,8,0:8:24:.:.:254,24,0,254,24,254	0	12	8	0
chr1	41513492	41513492	G	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon7:c.C5729T:p.T1910M	.	.	399	1122	1	0	0	1	0.000445434	.	.	3190695	HIVEP3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.263	B	0.055	B	0.002	N	1.000	N	0	N	3.33	T	-1.000	T	0.004	T	0.033	0.158	4.850	-8.01	-1.913	-0.900	2.599	0.024	.	0.0047	0.00559105	0.0013	0.0154	0.0004	0	0	0.0001	0.0012	6.414e-05	0.0013777	213	154602	rs78793608	0.0004	0.0004	0.0005	0.0003	0.0133	0.0004	0.0004	0.0123	0.0119	0.0133	0.0005	0	0	0	0.0007	5.403e-05	0.0014	4.651e-05	0.0042	0.0042	0.0044	0.0039	0.0140	0.0039	0.0038	0.0131	0.0127	0.0140	0	0.0024	0	0	0	0	7.352e-05	0.0033	0.0002	0.037	0.43085	D	0.118	0.36365	T	0.263	0.31569	B	0.055	0.25995	B	0.001817	0.00828	N	3.128720	1	0.08975	N	0	0.06538	N	3.32	0.06214	T	-0.77	0.21429	N	0.086	0.09349	-1.0000	0.29917	T	0.004	0.01330	T	10	0.0035306513	0.00063	T	.	.	.	0.024	0.04979	.	.	0.0551355673512	0.04727	0.121880320180958	0.12115	0.194979221601	0.21838	0.377998530865	0.21971	T	0.082802	0.36911	T	-0.756466	0.00016	T	-0.848357	0.00981	T	0.00895647808359673	0.00112	T	0.663934	0.27277	T	0.016761009	0.00220	0.032383263	0.01966	0.016761009	0.00220	0.032383263	0.01965	-4.908	0.35825	T	.	.	0.086	0.10497	B	.;.;.	.;.;.	-0.625234	0.01504	0.095	0.93684804394102728	0.23587	0.11565	0.16718	N	ALL	0.100632	0.20230	N	-1.71239594288208	0.00799	0.03451329	-1.83048480383393	0.00666	0.02964411	0.999999999957027	0.74766	0.533608	0.22052	0	0.858003	0.99906	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	4.0	-8.01	0.00991	-0.610000	0.05724	-1.963000	0.04425	-0.937000	0.02115	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1006:0.2776:0.3259:0.2959	2.599	0.04566	455	0.79073	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	750.98	51	chr1	41513492	.	G	A	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.660e-01;DP=857;ExcessHet=0.0000;FS=2.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=1.14;SOR=0.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,29:51:99:1|0:41513485_A_G:765,0,781:41513485	20	0	1	0
chr1	46270754	46270754	C	T	exonic	RAD54L	.	nonsynonymous SNV	RAD54L:NM_001370766:exon10:c.C598T:p.R200W	Adenocarcinoma, colonic, somatic (3);Lymphoma, non-Hodgkin, somatic	YES	.	.	.	.	.	.	.	.	.	918055	Premature_ovarian_failure|Hereditary_breast_ovarian_cancer_syndrome	MONDO:MONDO:0005387,MedGen:C0085215|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.985	D	0.000	D	1.000	D	3.635	H	-3.28	D	1.036	D	0.918	D	0.684	3.772	19.15	5.71	2.691	3.212	12.880	0.773	0.272809377827	7.7e-05	.	7.414e-05	0	0	0	0.0002	0.0001	0	6.057e-05	7.12e-05	11	154602	rs150138364	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.415e-05	0.0001	0.0001	0	0	0	0	1.872e-05	0	0.0001	0.0001	4.637e-05	5.257e-05	5.254e-05	6.423e-05	4.035e-05	8.82e-05	2.557e-05	1.83e-05	3.762e-05	2.575e-05	4.825e-05	0	0	0	0	0	0	8.82e-05	0	0	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.958	0.70027	D	0.000001	0.84330	D	0.053328	0.999627	0.47904	D	3.88	0.95983	H	-3.28	0.93691	D	-5.01	0.82450	D	0.489	0.52829	1.036	0.97836	D	0.918	0.97281	D	10	0.7820683	0.77937	D	0.272809	0.89943	D	0.773	0.92378	.	.	0.994810710862	0.99475	0.788573252800691	0.78809	0.580584510685	0.53898	0.622770547867	0.56120	T	0.916791	0.98478	D	0.153139	0.69563	D	0.17984	0.81986	D	0.977153539657593	0.71710	D	0.983302	0.94339	D	0.70802915	0.78499	0.7194637	0.83437	0.70802915	0.78501	0.7194637	0.83438	-14.94	0.95710	D	.	.	0.572	0.67698	P	.;.	.;.	5.367416	0.89995	31	0.99920656920694839	0.98721	0.84062	0.43148	D	AEFDBCI	0.515230	0.54227	D	0.794898684560595	0.85786	8.681062	0.698113573318962	0.82235	7.717137	0.915529745981557	0.26485	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	3.326000	0.51749	4.941000	0.46210	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.2703:0.7297:0.0:0.0	12.880	0.57404	107	0.95615	SNF2-related, N-terminal domain;SNF2-related, N-terminal 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	0.02381	717.98	66	chr1	46270754	.	C	T	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.805;SOR=0.763	GT:AD:DP:GQ:PL	0/1:38,28:66:99:732,0,861	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	2/2:0,0,21:21:63:.:.:632,632,632,63,63,0	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	0/1:36,40,0:78:99:1550,0,1372,1673,1506,3245	15	0	5	0
chr1	55058549	55058549	C	T	exonic	PCSK9	.	nonsynonymous SNV	PCSK9:NM_174936:exon9:c.C1405T:p.R469W,	Hypercholesterolemia, familial, 3	.	8	1513	1	0	0	1	0.00033036	.	.	196756	PCSK9-related_disorder|not_specified|not_provided|Hypercholesterolemia,_autosomal_dominant,_3|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1|Hypobetalipoproteinemia|Familial_hypercholesterolemia	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.723	P	0.003	N	1.000	N	1.61	L	-0.63	T	-0.780	T	0.229	T	0.254	3.140	16.50	1.33	0.327	-0.067	5.151	0.242	0.0347490446844	0.0027	0.00179712	0.0007	0.0077	0.0002	0	0	3e-05	0	6.056e-05	0.0006404	99	154602	rs141502002	0.0003	0.0003	0.0003	0.0003	0.0087	0.0002	0.0002	0.0079	0.0075	0.0087	0.0003	0	0	0	0.0002	2.968e-05	0.0007	0.0001	0.0025	0.0025	0.0027	0.0024	0.0088	0.0023	0.0022	0.0081	0.0078	0.0088	0	0.0006	0	0	0	0	7.351e-05	0.0019	0	0.01	0.56456	D	0.02	0.58613	D	0.997	0.70673	D	0.723	0.54990	P	0.003340	0.35096	N	0.180388	1	0.08975	N	2.24	0.63355	M	-0.63	0.72011	T	-1.82	0.42763	N	0.709	0.71232	-0.7801	0.56297	T	0.229	0.59459	T	10	0.011399835	0.00249	T	0.034749	0.55884	D	0.242	0.54781	.	.	0.841177199884	0.83966	0.8035416924816183	0.80308	0.24114255866	0.26643	0.571163833141	0.48843	T	0.206842	0.56631	T	-0.417491	0.01775	T	-0.363078	0.37695	T	0.0168379745102337	0.00438	T	0.849315	0.53201	T	0.3836551	0.59580	0.19947407	0.43831	0.3836551	0.59580	0.19947407	0.43830	-3.904	0.22362	T	0.42888406141127217	0.51636	0.112	0.21950	B	.	.	2.346772	0.30078	18.33	0.99834983532435584	0.91628	0.14418	0.18392	N	AEFDBCI	0.068608	0.13542	N	-0.314275739169694	0.28606	1.579161	-0.517986877083049	0.21665	1.173062	0.999953032511729	0.48110	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.47	1.33	0.20958	0.031000	0.13598	-2.392000	0.03811	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.2651:0.5652:0.0:0.1697	5.151	0.14338	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1241.98	90	chr1	55058549	.	C	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=1945;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.882;SOR=0.551	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1256,0,901	20	0	1	0
chr1	55063543	55063543	C	T	exonic	PCSK9	.	nonsynonymous SNV	PCSK9:NM_174936:exon12:c.C2038T:p.R680W,	Hypercholesterolemia, familial, 3	YES	2	1519	1	0	0	1	0.000329056	.	.	362660	Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia|not_specified|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.001	N	1.000	D	0.895	L	-0.88	T	-0.429	T	0.368	T	0.433	3.148	16.53	-0.168	0.200	0.126	8.612	0.409	0.120340798149	.	0.000998403	0.0004	0	0	0	0.0002	1.581e-05	0	0.0028	0.0003363	52	154602	rs533555352	0.0002	0.0002	9.264e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	2.99e-05	0	0	0	3.757e-05	0.0002	1.979e-05	0.0002	0.0024	5.251e-05	5.249e-05	2.569e-05	8.054e-05	0.0014	2.555e-05	1.828e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0014	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.001243	0.39669	N	0.091634	0.933328	0.37051	D	2.6	0.76081	M	-0.88	0.74689	T	-2.85	0.60029	D	0.467	0.50327	-0.4295	0.71083	T	0.368	0.72818	T	10	0.022096336	0.00543	T	0.120341	0.80086	D	0.409	0.72099	0.512	0.61000	0.878050049384	0.87686	0.8180297571673621	0.81759	0.850350720984	0.68505	0.284720957279	0.08159	T	0.34605	0.71436	T	-0.286524	0.09987	T	-0.190206	0.55572	T	0.180808547728568	0.19286	T	0.869813	0.57430	D	0.4213081	0.62178	0.27118498	0.53017	0.5411931	0.69464	0.31499523	0.57487	-8.467	0.64211	D	.	.	0.131	0.28086	B	.	.	3.405961	0.47225	22.4	0.99893616107295802	0.96742	0.70951	0.34805	D	AEFBCIJ	0.478398	0.52098	N	-0.0300014766555127	0.40500	2.406222	-0.157668743251856	0.33115	1.890877	0.999593610804802	0.40745	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	3.38	-0.168	0.12689	0.157000	0.16219	-0.873000	0.07095	0.599000	0.40250	0.841000	0.30301	0.000000	0.08366	0.736000	0.35301	0.3875:0.4816:0.1309:0.0	8.612	0.32973	856	0.34373	.	.	.	.	.	.	Likely benign	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	1	0	0.02381	1910.98	127	chr1	55063543	.	C	T	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1337;ExcessHet=0.0000;FS=2.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-5.270e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:56,71:127:99:1925,0,1235	20	0	1	0
chr1	70044072	70044072	A	C	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001370785:exon22:c.A4088C:p.H1363P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.101	B	0.079	B	0.000	D	1.000	N	0	N	2.34	T	-0.985	T	0.019	T	0.455	1.745	11.79	2.48	0.157	2.768	11.844	0.106	0.00709663419366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.724e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.50676	D	0.076	0.57587	T	0.021	0.25775	B	0.019	0.28749	B	0.000274	0.46590	D	0.186555	0.975399	0.25436	N	-0.69	0.01958	N	1.23	0.36872	T	-1.29	0.34596	N	0.278	0.41557	-0.9854	0.33735	T	0.019	0.07753	T	10	0.07423881	0.11323	T	0.007097	0.18814	T	0.106	0.30130	0.115	0.02372	0.193917141947	0.19028	0.294190802034136	0.29332	0.367247743163	0.38280	0.381318032742	0.22443	T	0.100848	0.40705	T	-0.128186	0.31790	T	-0.421907	0.30857	T	0.805797040462494	0.46752	D	0.690631	0.30012	T	0.18564777	0.39937	0.27989393	0.53961	0.18564777	0.39937	0.27989393	0.53960	-2.351	0.04841	T	.	.	0.073	0.04847	B	.;.	.;.	2.833581	0.37365	20.5	0.92317833822273199	0.21712	0.69706	0.34294	D	ALL	0.330868	0.43077	N	-0.403127132048559	0.25359	1.376035	-0.206891765604945	0.31288	1.769275	0.999999994380304	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.232529	0.04895	2	0.648885	0.59868	0	.	.	6.16	2.48	0.29194	2.763000	0.47287	5.523000	0.48827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.3582:0.0:0.0:0.6418	11.844	0.51647	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	0.02381	791.98	85	chr1	70044072	.	A	C	791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=778;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=1.43;SOR=0.586	GT:AD:DP:GQ:PL	0/1:51,34:85:99:806,0,1238	20	0	1	0
chr1	74342947	74342947	C	T	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon8:c.C788T:p.P263L	.	.	427	1067	26	2	0	30	0.0138632	.	.	696872	not_provided|Atrial_conduction_disease	MedGen:C3661900|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.943	D	0.000	D	1.000	D	0.895	L	-0.01	T	-0.610	T	0.262	T	0.94	3.185	16.66	5.77	2.745	7.386	19.993	0.378	0.0767576891497	0.0016	0.00199681	0.0025	0.0002	0.0013	0	0	0.0019	0.0044	0.0090	0.0022315	345	154602	rs34521608	0.0026	0.0026	0.0023	0.0029	0.0165	0.0025	0.0025	0.0138	0.0128	0.0006	0.0015	0.0012	0	7.49e-05	0.0165	0.0023	0.0031	0.0095	0.0016	0.0016	0.0016	0.0017	0.0114	0.0015	0.0014	0.0090	0.0081	0.0005	0	0.0015	0.0012	0.0002	9.42e-05	0.0102	0.0020	0.0014	0.0114	0.022	0.48642	D	0.059	0.45961	T	0.722	0.42387	P	0.403	0.44588	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.055	0.04927	N	-0.01	0.62762	T	-1.62	0.58248	N	0.955	0.96416	-0.6102	0.64395	T	0.262	0.63318	T	10	0.013804257	0.00292	T	0.076758	0.72609	D	0.378	0.69612	.	.	0.638346370533	0.63536	0.6004284499326362	0.71489	0.192949307211	0.21626	.	.	.	0.044455	0.26820	T	-0.0517454	0.44182	T	0.159434	0.80771	D	0.0449530240829002	0.04593	T	0.945205	0.79148	D	0.13290952	0.30932	0.20013842	0.43930	0.13290952	0.30932	0.20013842	0.43929	-5.565	0.42471	T	0.182040433934308	0.23502	0.225	0.45653	B	.;.;.;.	.;.;.;.	3.397250	0.47066	22.4	0.99845342544875071	0.92489	0.94974	0.62981	D	AEFCI	0.878053	0.80307	D	0.29673531893245	0.55983	3.762492	0.370422426686489	0.59748	4.155245	0.999999861989603	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	7.467000	0.79942	5.986000	0.52250	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:1.0:0.0:0.0	19.993	0.97375	903	0.23940	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2482.98	208	chr1	74342947	.	C	T	2482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=903;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-2.110e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/1:107,101:208:99:2497,0,2721	20	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,17:88:36:.:.:36,0,1977	1	0	17	3
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,134,0,0:280:99:.:.:4703,0,5338,5142,5742,10884,5142,5742,10884,10884	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,134,0,0:280:99:.:.:4703,0,5338,5142,5742,10884,5142,5742,10884,10884	0	12	6	0
chr1	93136807	93136807	G	A	exonic	MTF2	.	nonsynonymous SNV	MTF2:NM_001164393:exon13:c.G1256A:p.G419D	.	.	425	1076	18	3	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	0.000	D	0.999	D	0.55	N	1.96	T	-1.050	T	0.028	T	0.433	3.067	16.24	5.9	2.806	4.112	20.282	0.120	0.00401574286492	0.0008	0.00199681	0.0015	0.0002	0.0003	0	0.0002	0.0010	0	0.0061	0.0013713	212	154602	rs141738080	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0014	0.0065	0.0063	0.0004	0.0003	0.0009	0	7.488e-05	0.0050	0.0013	0.0016	0.0069	0.0009	0.0009	0.0010	0.0009	0.0070	0.0008	0.0008	0.0052	0.0045	0.0002	0	0.0007	0.0009	0	0	0.0068	0.0012	0.0014	0.0070	0.308	0.26852	T	0.587	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.000075	0.52346	D	0.176990	0.998587	0.45122	D	0	0.06538	N	1.54	0.30133	T	-0.72	0.27669	N	0.138	0.17553	-1.0501	0.14369	T	0.028	0.12103	T	10	0.004812598	0.00102	T	0.004016	0.09525	T	0.120	0.33359	.	.	0.316310170894	0.31242	0.2567057432622529	0.25584	0.377117936334	0.39146	0.604843616486	0.53588	T	0.136939	0.46959	T	-0.477519	0.00765	T	-0.455949	0.27042	T	0.0221687447915002	0.00928	T	0.815518	0.47040	T	0.18423568	0.39729	0.49373773	0.70718	0.18423568	0.39728	0.49373773	0.70719	-2.069	0.03453	T	.	.	0.096	0.15206	B	.;.;.;.	.;.;.;.	3.032618	0.40627	21.2	0.99292407325838206	0.58326	0.89745	0.50409	D	AEFBCI	0.418078	0.48586	N	-0.0993309928434743	0.37421	2.176927	0.147080332813538	0.46987	2.935897	0.999109479316504	0.38452	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.107000	0.50021	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.282	0.98522	388	0.83355	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4782.68	141	chr1	93136807	.	G	A	4782.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.544;DP=1187;ExcessHet=0.3300;FS=1.108;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.244;SOR=0.817	GT:AD:DP:GQ:PL	0/1:80,61:141:99:1544,0,2102	18	0	3	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:14,19,0:33:99:756,0,531,798,588,1386	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:14,19,0:33:99:756,0,531,798,588,1386	1	11	8	0
chr1	109397837	109397837	C	T	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_002959:exon1:c.G56A:p.G19D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.13	B	0.076	B	0.493	N	1.000	D	0	N	2.49	T	-0.984	T	0.009	T	0.536	2.062	12.85	3.82	1.971	3.591	8.636	0.155	0.168377291209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.681e-07	7.114e-05	1.707e-06	0	1.056e-06	0	0	.	.	0	0	0	0	0	0	1.056e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.0	0.92824	D	0.13	0.27095	B	0.076	0.28435	B	0.492899	0.05046	N	1.400500	0.898608	0.27745	N	0.345	0.11182	N	2.49	0.14531	T	-0.41	0.14000	N	0.175	0.18784	-0.9837	0.34140	T	0.009	0.03271	T	10	0.13995436	0.26605	T	0.168377	0.84649	D	0.155	0.40530	0.309	0.28128	0.718660675997	0.71618	0.35650639927577576	0.35564	3.96447962958	0.99874	0.897408604622	0.96148	D	0.121028	0.44369	T	-0.175747	0.24372	T	-0.490225	0.23368	T	0.746516346931458	0.43092	D	0.49905	0.15565	T	0.069819726	0.15328	0.14618352	0.34642	0.069819726	0.15328	0.14618352	0.34641	-8.933	0.67264	D	.	.	0.393	0.59194	A	.	.	2.649779	0.34500	19.64	0.98765345786365522	0.45878	0.88797	0.48900	D	AEFDGBHCI	0.342840	0.43886	N	-0.403200619845908	0.25357	1.37588	-0.277176201164063	0.28852	1.611876	0.99999999999834	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.82	3.82	0.43153	0.160000	0.16278	1.783000	0.28733	0.498000	0.22619	0.034000	0.20669	0.999000	0.35428	0.028000	0.12845	0.2283:0.7717:0.0:0.0	8.636	0.33112	735	0.53711	.	.	.	.	.	.	Uncertain significance	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	30.98	15	chr1	109397837	.	C	T	30.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e+00;DP=395;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=1.28;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:109397814_G_T:45,0,520:109397814	20	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,15:106:47:0|1:110222977_C_G:47,0,3211:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,15:109:38:0|1:110222977_C_G:38,0,3286:110222977	12	0	8	1
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	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	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:78,29,0:107:99:439,0,1408,661,1492,2153	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	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	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:78,29,0:107:99:439,0,1408,661,1492,2153	12	0	8	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:75,33:121:99:246,0,1112	0	0	21	0
chr1	116944787	116944787	C	T	exonic	PTGFRN	.	nonsynonymous SNV	PTGFRN:NM_020440:exon3:c.C527T:p.P176L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.002	B	0.084	N	0.801	N	0.69	N	4.15	T	-0.911	T	0.003	T	0.169	1.563	11.18	2.03	0.654	0.341	7.055	0.015	0.016896545806	.	0.000399361	3.201e-05	0	0.0004	0	0	0	0	0	2.59e-05	4	154602	rs559167017	2.836e-06	1.094e-05	2.807e-06	2.865e-06	5.118e-05	6.6e-07	4.5e-07	8.48e-06	3.17e-06	0	5.118e-05	0	0	0	0	9.172e-07	1.712e-05	0	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0001	1.26e-05	7.97e-06	2.258e-05	1.03e-05	7.214e-05	0	0.0001	0	0	0	0	0	0	0	0.188	0.21304	T	0.278	0.21812	T	0.005	0.12996	B	0.002	0.06944	B	0.084260	0.20707	N	0.546525	0.800709	0.29118	N	0.55	0.14455	N	4.15	0.02815	T	-0.48	0.15379	N	0.09	0.06854	-0.9107	0.46768	T	0.003	0.00800	T	10	0.019681752	0.00443	T	0.016897	0.38370	T	0.015	0.02232	0.376	0.38994	0.0675242888579	0.06100	0.3994868582054144	0.39863	0.441268052763	0.44120	0.591548442841	0.51712	T	0.052636	0.29217	T	-0.265635	0.12248	T	-0.619343	0.11236	T	0.0736010000109673	0.09148	T	0.811819	0.46320	T	0.0648066	0.13787	0.040868793	0.04516	0.0648066	0.13786	0.040868793	0.04515	-5.052	0.37399	T	.	.	0.085	0.10304	B	.	.	1.445802	0.18663	13.86	0.95138884745593555	0.26258	0.16798	0.19554	N	AEFDBI	0.062289	0.11963	N	-0.563230776524822	0.20071	1.055361	-0.455952140779157	0.23380	1.274708	0.0272398513908228	0.13761	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.47	2.03	0.25714	0.366000	0.20099	0.055000	0.14054	0.524000	0.24156	0.001000	0.13787	0.000000	0.08366	0.902000	0.43815	0.1463:0.6798:0.0:0.1739	7.055	0.24272	596	0.68392	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	236.98	33	chr1	116944787	.	C	T	236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.512;DP=780;ExcessHet=0.0000;FS=3.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.18;ReadPosRankSum=-8.820e-01;SOR=0.260	GT:AD:DP:GQ:PL	0/1:23,10:33:99:251,0,675	20	0	1	0
chr1	120449258	120449258	G	A	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.G844A:p.E282K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782419441	9.652e-06	1.578e-05	5.962e-06	1.331e-05	3.268e-05	5.39e-06	4.15e-06	6.35e-06	5.01e-06	3.268e-05	0	0	0	0	0	1.19e-05	0	0	1.316e-05	2.627e-05	1.286e-05	1.348e-05	6.558e-05	2.19e-06	8.2e-07	.	.	0	0	6.558e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	329.98	268	chr1	120449258	.	G	A	329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.557e+00;DP=1703;ExcessHet=0.0000;FS=2.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.60;MQRankSum=2.34;QD=1.23;ReadPosRankSum=-7.480e-01;SOR=0.514	GT:AD:DP:GQ:PL	0/1:223,45:268:99:344,0,5537	20	0	1	0
chr1	120449333	120449333	A	G	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.A919G:p.R307G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.093	B	0.106	B	.	.	.	.	.	.	3.25	T	-0.960	T	0.008	T	0.621	0.611	7.288	.	0.103	-0.196	.	0.136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325220470	5.623e-05	0.0001	3.412e-05	7.856e-05	0.0005	4.621e-05	4.247e-05	0.0003	0.0003	0	0.0001	0	0.0001	0	0.0004	2.524e-05	6.64e-05	0.0005	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.69e-05	0.0008	0.0006	4.809e-05	0.0011	6.533e-05	0.0003	0.0008	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	1197.98	300	chr1	120449333	.	A	G	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=2006;ExcessHet=0.0000;FS=5.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.81;MQRankSum=0.455;QD=3.99;ReadPosRankSum=1.44;SOR=0.373	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,47:300:99:0|1:120449333_A_G:1212,0,10408:120449333	20	0	1	0
chr1	120449334	120449334	G	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.G920T:p.R307I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297465870	5.623e-05	0.0001	3.276e-05	7.994e-05	0.0005	4.621e-05	4.247e-05	0.0004	0.0003	0	0.0001	0	7.559e-05	0	0.0004	2.524e-05	6.64e-05	0.0005	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.691e-05	0.0008	0.0006	4.809e-05	0.0011	6.533e-05	0.0003	0.0008	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	1197.98	300	chr1	120449334	.	G	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=2009;ExcessHet=0.0000;FS=5.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.99;MQRankSum=0.455;QD=3.99;ReadPosRankSum=1.89;SOR=0.373	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,47:300:99:0|1:120449333_A_G:1212,0,10408:120449333	20	0	1	0
chr1	120809823	120809823	A	G	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.A506G:p.D169G,	.	.	439	1055	23	5	0	33	0.015399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403692093	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0004	0.0035	0.0034	0	0.0006	0.0003	0	0	0.0046	0.0001	0.0009	0.0039	0.0003	0.0003	0.0002	0.0004	0.0034	0.0002	0.0002	0.0021	0.0017	0	0	0.0003	0.0003	0.0002	0	0.0037	0.0003	0.0016	0.0034	.	.	.	0.039	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.31925	.	.	.	.	.	.	.	0.061215937	0.07641	T	.	.	.	.	.	.	.	.	.	0.03205359752714085	0.03153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.40952	B	.;.;.;.;.	.;.;.;.;.	0.622834	0.09910	6.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.086000	0.11198	-0.420000	0.09290	-0.536000	0.04945	0.094000	0.22667	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	8100.66	140	chr1	120809823	.	A	G	8100.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.961e+00;DP=1535;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=0.6412;MLEAC=3;MLEAF=0.071;MQ=44.32;MQRankSum=5.14;QD=24.47;ReadPosRankSum=2.66;SOR=0.600	GT:AD:DP:GQ:PL	0/1:15,125:140:35:3174,0,35	19	1	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|1:81,20:101:92:0|1:145872713_C_G:92,0,2593:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,20:101:92:0|1:145872713_C_G:92,0,2593:145872713	6	0	14	1
chr1	145994976	145994976	C	G	exonic	TXNIP	.	nonsynonymous SNV	TXNIP:NM_001313972:exon3:c.G362C:p.G121A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.88	0.23884	T	-4.89	0.81431	D	0.924	0.92784	.	.	.	.	.	.	.	0.9178163	0.91140	D	.	.	.	.	.	.	.	.	.	0.9961424302840691	0.99612	.	.	.	.	.	0.408319	0.76368	T	.	.	.	.	.	.	.	.	.	0.944306	0.83579	D	.	.	.	.	.	.	.	.	-11.37	0.83767	D	.	.	0.985	0.92114	P	.;.	.;.	4.940421	0.81522	27.6	.	.	.	.	.	.	0.931454	0.92031	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.420000	0.73257	7.623000	0.62394	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	.	.	.	958	0.09170	Arrestin C-terminal-like domain|Arrestin C-terminal-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	0.02381	2588.98	232	chr1	145994976	.	C	G	2588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.339;DP=913;ExcessHet=0.0000;FS=0.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.325;SOR=0.641	GT:AD:DP:GQ:PL	0/1:123,109:232:99:2603,0,3111	20	0	1	0
chr1	146069594	146069594	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon82:c.G10252A:p.A3418T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	1.000	N	1.2	L	3.26	T	-0.931	T	0.008	T	0.038	0.560	7.027	-0.605	-0.144	-0.255	4.415	0.007	0.000149198330203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.049e-05	9.243e-05	4.262e-05	7.842e-05	0.0005	5.003e-05	4.609e-05	0.0003	0.0003	0	0	0	0	0	0.0002	4.13e-05	1.727e-05	0.0005	8.16e-06	2.671e-05	0	1.681e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.20129	.	.	.	.	.	.	.	0.083289355	0.13838	T	.	.	.	.	.	.	.	.	.	0.004073885125280471	0.00382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732227	0.34774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.58697	A	.;.	.;.	-0.410275	0.02174	0.213	.	.	.	.	.	.	0.019863	0.00729	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.178000	0.03203	-9.304000	0.00839	-1.327000	0.01220	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	714.98	130	chr1	146069594	.	C	T	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.221e+00;DP=1597;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.26;MQRankSum=0.484;QD=5.50;ReadPosRankSum=-1.490e+00;SOR=0.670	GT:AD:DP:GQ:PL	0/1:87,43:130:99:729,0,2093	20	0	1	0
chr1	148120681	148120681	C	T	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon9:c.G808A:p.V270I	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.778	P	0.236	B	.	.	1.000	N	1.59	L	3.99	T	-0.913	T	0.004	T	0.137	-0.449	1.918	.	0.268	-3.020	.	0.023	0.00169904562949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237737551	0.0004	0.0004	0.0003	0.0004	0.0021	0.0004	0.0003	0.0019	0.0018	0.0001	0.0002	0	0.0008	7.491e-05	0.0007	0.0003	0.0006	0.0021	0.0004	0.0004	0.0004	0.0004	0.0031	0.0003	0.0003	0.0019	0.0016	0.0002	0	0.0001	0	0.0031	0	0	0.0003	0.0005	0.0023	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	.	.	.	.	.	.	0.108	0.09349	-0.9128	0.46505	T	0.004	0.01400	T	7	0.024328679	0.00665	T	0.001699	0.02830	T	.	.	0.129	0.03412	0.0551355673512	0.04727	0.007768515961441434	0.00741	.	.	.	.	.	0.009983	0.09054	T	-0.259042	0.13013	T	-0.609873	0.11996	T	0.13418101831985	0.15763	T	0.542646	0.18460	T	0.06716865	0.14520	0.08114281	0.18415	0.06716865	0.14520	0.08114281	0.18414	-3.455	0.15807	T	.	.	0.100	0.19357	B	.;.;.;.	.;.;.;.	-0.132671	0.03450	0.637	0.6027177137814862	0.06423	0.00067	0.00479	N	AEFI	0.022668	0.01163	N	-0.925877009486483	0.10239	0.4883756	-1.15243550706744	0.06724	0.3246325	1.13787496935436E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-2.145000	0.01382	-14.523000	0.00400	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	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	997.98	138	chr1	148120681	.	C	T	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=931;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.56;MQRankSum=-9.190e+00;QD=7.23;ReadPosRankSum=2.56;SOR=0.777	GT:AD:DP:GQ:PL	0/1:92,46:138:99:1012,0,2213	20	0	1	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F	.	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.009	B	0.004	B	.	.	1.000	N	2.14	M	3.91	T	-0.968	T	0.057	T	0.401	-0.942	0.357	.	0.107	-0.215	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1079.11	44	chr1	148123871	.	C	A	1079.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.48;DP=768;ExcessHet=0.1072;FS=2.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=35.18;MQRankSum=2.87;QD=11.99;ReadPosRankSum=0.546;SOR=1.028	GT:AD:DP:GQ:PL	0/1:25,19:44:99:627,0,690	19	0	2	0
chr1	148559058	148559058	T	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon33:c.A4237C:p.K1413Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187500467	0.0002	0.0014	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0.0005	0	0	2.73e-05	0.0005	0.0002	0.0002	0.0005	7.834e-05	0.0013	0.0001	4.062e-05	0.0001	3.862e-05	2.827e-05	4.596e-05	3.091e-05	0	0	9.208e-05	0	0	0	0	0.0001	0.0007	0	.	.	.	0.855	0.04825	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.13911	.	.	.	.	.	.	.	0.07555959	0.11693	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489851	0.15589	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09143	B	.;.	.;.	-0.133480	0.03447	0.635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.187000	0.03176	-2.299000	0.03932	-1.776000	0.00658	0.011000	0.18532	0.000000	0.08366	0.001000	0.02609	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.06667	46.19	2	chr1	148559058	.	T	G	46.19	.	AC=2;AF=0.067;AN=30;DP=507;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6588;MLEAC=1;MLEAF=0.033;MQ=29.06;QD=23.09;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:63,6,0	14	1	0	6
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	0/1:451,130:581:99:2113,0,11700	1	0	20	0
chr1	149488149	149488149	G	C	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1177C:p.E393Q,	.	.	530	962	28	2	0	32	0.0163599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.997	D	0.992	D	.	.	1.000	N	2.38	M	2.94	T	-1.089	T	0.035	T	0.416	1.177	9.789	0.698	0.688	1.418	4.803	0.140	0.00060867098707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474159899	0.0034	0.0026	0.0020	0.0046	0.0225	0.0033	0.0032	0.0215	0.0211	0.0002	0.0014	0.0040	0	0.0002	0.0141	0.0010	0.0026	0.0225	0.0013	0.0014	0.0012	0.0015	0.0187	0.0012	0.0011	0.0152	0.0140	0.0002	0	0.0011	0.0054	0	0	0.0070	0.0010	0.0021	0.0187	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.14622	-1.0889	0.05718	T	0.035	0.15074	T	9	0.0548667	0.05907	T	6.09E-4	0.00289	T	.	.	0.821	0.93395	0.0666544352282	0.05500	.	.	.	.	0.57171189785	0.48920	T	0.014894	0.12595	T	-0.0565468	0.43446	T	-0.319002	0.42685	T	0.621665894985199	0.37274	D	0.722728	0.39577	T	0.046422713	0.07767	0.05308705	0.08876	0.046422713	0.07767	0.05308705	0.08875	-9.616	0.71579	D	.	.	0.245	0.47923	B	.;.	.;.	0.888687	0.12623	9.147	0.98128739072125104	0.38498	0.01707	0.05422	N	AEFI	0.030943	0.03210	N	-0.304474474754588	0.28978	1.602928	-0.640070078323218	0.18468	0.9866734	1.56385238301757E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	0.698	0.17247	0.194000	0.16941	-0.724000	0.07692	0.184000	0.17816	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.803	0.12670	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	687.83	19	chr1	149488149	.	G	C	687.83	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.47;DP=363;ExcessHet=0.3300;FS=3.933;InbreedingCoeff=-0.0803;MLEAC=3;MLEAF=0.071;MQ=36.70;MQRankSum=1.35;QD=13.49;ReadPosRankSum=-8.890e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,12:19:99:.:.:352,0,171	18	0	3	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,35,0:278:99:0|1:152214821_T_A:697,0,9999,1429,10105,11534:152214821	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|1:235,32,0:267:99:0|1:152214821_T_A:636,0,9768,1344,9865,11208:152214821	8	0	3	0
chr1	152218472	152218472	G	A	exonic	HRNR	.	stopgain	HRNR:NM_001009931:exon3:c.C3157T:p.R1053X,	.	.	429	1092	0	1	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.391	37	1.39	0.303	1.401	4.963	.	.	.	0.000399361	0.0005	0	8.637e-05	0.0002	0.0015	0.0005	0.0011	0.0011	0.0004334	67	154602	rs141889832	0.0004	0.0004	0.0004	0.0004	0.0042	0.0004	0.0004	0.0029	0.0024	8.962e-05	4.472e-05	3.826e-05	0.0009	0.0020	0.0042	0.0003	0.0004	0.0010	0.0003	0.0002	0.0001	0.0004	0.0012	0.0002	0.0002	0.0005	0.0004	7.252e-05	0	6.542e-05	0	0	0.0016	0.0034	0.0001	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0295484	0.55664	T	0.219227	0.84137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.864491	0.95840	35	0.99512893371593392	0.68739	0.00596	0.02666	N	AEFBI	0.034654	0.04329	N	-0.0225011713388438	0.40838	2.43219	-0.426597283237807	0.24220	1.325095	1.53585699489986E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.38	1.39	0.21325	0.799000	0.26688	.	.	0.453000	0.21368	0.001000	0.13787	.	.	0.002000	0.04165	0.3224:0.0:0.6776:0.0	4.963	0.13427	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5374.98	356	chr1	152218472	.	G	A	5374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=3946;ExcessHet=0.0000;FS=4.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.88;MQRankSum=-8.550e-01;QD=15.10;ReadPosRankSum=-8.740e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:160,196:356:99:5389,0,3755	20	0	1	0
chr1	152354832	152354832	G	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.C2954G:p.S985C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.79	P	.	.	1.000	N	2.36	M	2.76	T	-1.069	T	0.026	T	0.228	1.300	10.25	1.57	0.017	0.397	4.873	0.024	0.00434087370279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.006	0.70582	D	0.997	0.70673	D	0.79	0.57710	P	.	.	.	.	1	0.08975	N	2.69	0.78713	M	2.76	0.11515	T	-3.21	0.64826	D	0.082	0.05799	-1.0687	0.09701	T	0.026	0.11309	T	9	0.19461748	0.35280	T	0.004341	0.10561	T	0.024	0.04979	0.246	0.18139	0.276065633971	0.27208	0.16649047087105345	0.16569	0.0253654636143	0.02589	0.445481717587	0.31327	T	0.024205	0.18336	T	-0.245215	0.14691	T	-0.590011	0.13664	T	0.30915780360473	0.25380	T	0.19598	0.02159	T	0.09617293	0.22649	0.07580456	0.16726	0.09617293	0.22648	0.07580456	0.16725	-10.656	0.77738	D	.	.	0.160	0.35456	B	.	.	0.875669	0.12489	9.018	0.91487656167451903	0.20760	0.09104	0.14926	N	AEFDBCI	0.055798	0.10264	N	-0.249248673456749	0.31133	1.742717	-0.498802038893078	0.22187	1.203857	1.61280483533666E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	1.57	0.22490	0.050000	0.14004	.	.	0.650000	0.52971	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.1057:0.0:0.5391:0.3551	4.873	0.12999	562	0.71143	.	.	.	.	.	.	Uncertain significance	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	7560.98	629	chr1	152354832	.	G	C	7560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.998e+00;DP=3245;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=1.77;SOR=0.711	GT:AD:DP:GQ:PL	0/1:326,303:629:99:7575,0,8698	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	4/4:0,0,0,0,45,0,0:48:99:2241,2063,1988,2063,1988,1988,2063,1988,1988,1988,154,153,153,153,0,2063,1988,1988,1988,153,1988,2063,1988,1988,1988,153,1988,1988	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	4/4:0,0,0,0,45,0,0:48:99:2241,2063,1988,2063,1988,1988,2063,1988,1988,1988,154,153,153,153,0,2063,1988,1988,1988,153,1988,2063,1988,1988,1988,153,1988,1988	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	4/4:0,0,0,0,45,0,0:48:99:2241,2063,1988,2063,1988,1988,2063,1988,1988,1988,154,153,153,153,0,2063,1988,1988,1988,153,1988,2063,1988,1988,1988,153,1988,1988	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	4/4:0,0,0,0,45,0,0:48:99:2241,2063,1988,2063,1988,1988,2063,1988,1988,1988,154,153,153,153,0,2063,1988,1988,1988,153,1988,2063,1988,1988,1988,153,1988,1988	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	4/4:0,0,0,0,45,0,0:48:99:2241,2063,1988,2063,1988,1988,2063,1988,1988,1988,154,153,153,153,0,2063,1988,1988,1988,153,1988,2063,1988,1988,1988,153,1988,1988	0	1	0	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L	.	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2933.68	67	chr1	156244810	.	G	A	2933.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.647;DP=892;ExcessHet=0.3300;FS=6.828;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.778;SOR=0.413	GT:AD:DP:GQ:PL	0/1:36,31:67:99:742,0,853	18	0	3	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S	.	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.019	B	0.054	B	0.034	N	1.000	D	0	N	1.83	T	-1.005	T	0.011	T	0.389	0.846	8.419	2.7	0.539	0.024	7.627	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2340.68	47	chr1	156244850	.	C	A	2340.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.571;DP=830;ExcessHet=0.3300;FS=5.220;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-4.030e-01;SOR=0.431	GT:AD:DP:GQ:PL	0/1:30,17:47:99:430,0,762	18	0	3	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W	.	.	424	1041	53	4	0	61	0.0284648	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.476	P	0.153	B	0.291	N	0.692	N	0	N	1.4	T	-1.048	T	0.026	T	0.227	2.745	15.14	5.51	2.576	2.352	13.027	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	7277.68	165	chr1	156266009	.	G	A	7277.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.41;DP=1184;ExcessHet=0.3300;FS=1.758;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=-1.690e-01;SOR=0.561	GT:AD:DP:GQ:PL	0/1:79,86:165:99:2229,0,1745	18	0	3	0
chr1	156286326	156286326	G	A	exonic	TMEM79	.	nonsynonymous SNV	TMEM79:NM_032323:exon3:c.G824A:p.R275Q,	.	.	424	1095	2	1	0	4	0.00182315	.	.	3346718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.963	D	0.000	D	1.000	D	0	N	0.81	T	-0.985	T	0.092	T	0.485	4.725	26.3	4.97	2.815	3.404	13.698	0.121	0.0073702272211	.	0.000199681	9.884e-05	0	0	0	0	8.991e-05	0	0.0004	8.41e-05	13	154602	rs563432840	9.029e-05	9.029e-05	7.487e-05	0.0001	0.0010	7.756e-05	7.299e-05	0.0005	0.0004	2.987e-05	4.472e-05	0	0	1.872e-05	0.0010	5.755e-05	0.0001	0.0006	5.909e-05	5.906e-05	5.139e-05	6.713e-05	0.0002	3.075e-05	2.208e-05	2.846e-05	1.858e-05	4.812e-05	0	0	0	0	0	0.0034	7.35e-05	0	0.0002	0.204	0.20078	T	0.068	0.44106	T	1.0	0.90584	D	0.963	0.70837	D	0.000023	0.55875	D	0.119737	0.881298	0.81001	D	0.805	0.20218	L	0.81	0.48460	T	-0.75	0.21003	N	0.348	0.38950	-0.9853	0.33760	T	0.092	0.35228	T	10	0.11419988	0.21478	T	0.00737	0.19550	T	0.121	0.33580	0.178	0.08503	0.681910643822	0.67920	0.5500008909859297	0.54926	0.514453030111	0.49391	0.419773578644	0.27804	T	0.010794	0.09711	T	-0.317163	0.07132	T	-0.343928	0.39899	T	0.136413872241974	0.15962	T	0.810819	0.46223	T	0.1695698	0.37482	0.11221706	0.27075	0.1695698	0.37481	0.11221706	0.27074	-4.527	0.31240	T	.	.	0.080	0.08705	B	.;.	.;.	4.084862	0.60795	24.3	0.99928683316686795	0.99222	0.93565	0.58564	D	AEFBI	0.111304	0.22041	N	0.43651303808014	0.63442	4.578004	0.510910853603495	0.68723	5.259655	0.999986309560583	0.51787	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	4.97	0.65419	2.595000	0.45861	4.490000	0.43568	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1544:0.8456:0.0	13.698	0.62073	292	0.88363	.;.	.	.	.	.	.	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	861.98	88	chr1	156286326	.	G	A	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=788;ExcessHet=0.0000;FS=1.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-2.059e+00;SOR=0.937	GT:AD:DP:GQ:PL	0/1:51,37:88:99:876,0,1165	20	0	1	0
chr1	156879124	156879124	C	T	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon14:c.C1790T:p.S597F	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.889	P	0.595	P	0.030	N	1.000	D	2.305	M	-1.72	D	0.194	D	0.528	D	0.7	3.171	16.61	4.37	2.432	5.854	15.985	0.660	0.138787162896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.012	0.65728	D	0.474	0.39849	P	0.168	0.35187	B	0.029785	0.25403	N	0.285942	0.999926	0.54805	D	2.235	0.63160	M	-1.72	0.83241	D	-3.77	0.71397	D	0.494	0.53269	0.194	0.85798	D	0.528	0.82438	D	10	0.69264996	0.71950	D	0.138787	0.82127	D	0.660	0.87283	0.507	0.60232	0.928708275997	0.92798	0.5078569948578682	0.50707	0.409882801041	0.41793	0.778451681137	0.78694	T	0.833486	0.96047	D	0.193112	0.73251	D	0.039616	0.72902	D	0.976203441619873	0.71274	D	0.956404	0.83469	D	0.69206756	0.77623	0.6891424	0.81712	0.69206756	0.77625	0.6891424	0.81713	-10.685	0.79680	D	0.29649916867644444	0.39353	0.204	0.51583	B	.;.;.;.	.;.;.;.	4.367917	0.67223	25.1	0.9953438547818988	0.70087	0.97773	0.77029	D	AEFGBI	0.822772	0.74302	D	0.400031434635373	0.61425	4.343354	0.435520173042434	0.63791	4.620206	0.999995082014523	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	4.37	4.37	0.51830	6.096000	0.71091	7.490000	0.59357	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	15.985	0.79939	537	0.73184	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	76	chr1	156879124	.	C	T	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.050e-01;DP=890;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=1.53;SOR=0.459	GT:AD:DP:GQ:PL	0/1:40,36:76:99:995,0,1152	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	0/1:137,43:190:99:216,0,3026	5	0	16	0
chr1	162859559	162859559	G	A	exonic	CCDC190	.	stopgain	CCDC190:NM_178550:exon2:c.C88T:p.Q30X,	.	.	415	1103	4	0	0	4	0.00180995	.	.	576077	not_provided	MedGen:CN517202	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	0.273	N	1.000	A	.	.	.	.	.	.	.	.	.	4.913	28.4	4.4	2.268	2.886	12.360	.	.	.	.	0.0003	0	8.853e-05	0	0	7.601e-05	0.0011	0.0018	0.0002264	35	154602	rs756079140	0.0001	0.0001	7.352e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0.0002	0.0002	0	0	0.0009	1.979e-05	0.0002	0.0016	0.0001	0.0001	0.0001	0.0001	0.0015	7.573e-05	6.279e-05	0.0007	0.0005	0	0	0.0003	0.0003	0	0	0	8.82e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	0.272572	0.15099	N	0.563022	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.226	0.28264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16526	0.70687	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	7.168220	0.96222	35	0.99853049471724054	0.93191	0.56617	0.30163	D	AEFBI	0.052900	0.09485	N	0.782306337493542	0.84988	8.443946	0.548690590538521	0.71304	5.634792	0.999987175775462	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.315538	0.05692	2	0.656636	0.63459	0	.	.	4.4	4.4	0.52402	2.911000	0.48472	7.204000	0.57805	0.674000	0.70861	0.801000	0.29734	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	12.360	0.54526	899	0.25060	.;.;.	.	.	.	.	.	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	967.98	107	chr1	162859559	.	G	A	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=796;ExcessHet=0.0000;FS=6.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=0.394;SOR=1.364	GT:AD:DP:GQ:PL	0/1:64,43:107:99:982,0,1522	20	0	1	0
chr1	169851821	169851821	G	A	exonic	C1orf112	.	nonsynonymous SNV	C1orf112:NM_001366773:exon21:c.G1280A:p.G427E	.	.	431	1081	10	0	0	10	0.00460405	.	.	2806150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.006	B	0.016	B	0.003	N	0.941	D	0.51	N	1.04	T	-1.056	T	0.024	T	0.121	0.837	8.379	3.67	0.676	1.888	7.432	0.020	0.00551394939243	0.0035	0.00119808	0.0032	0.0005	0.0010	0	0.0041	0.0043	0.0055	0.0029	0.0030789	476	154602	rs74523449	0.0038	0.0038	0.0038	0.0039	0.0043	0.0038	0.0037	0.0042	0.0041	0.0004	0.0007	0.0014	2.52e-05	0.0049	0.0017	0.0043	0.0027	0.0038	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0042	0.0041	0.0007	0	0.0007	0.0012	0	0.0034	0	0.0047	0.0024	0.0033	0.434	0.09430	T	1.0	0.06576	T	0.006	0.13644	B	0.016	0.17743	B	0.003131	0.35389	N	0.313387	0.999969	0.18878	N	1.59	0.40313	L	1.04	0.40218	T	0.04	0.06488	N	0.225	0.25253	-1.0564	0.12672	T	0.024	0.10284	T	10	0.004492849	0.00092	T	0.005514	0.14197	T	0.020	0.03691	.	.	0.396794106654	0.39292	0.2651336989800043	0.26426	0.0809065131019	0.09109	.	.	.	0.007202	0.06615	T	-0.573593	0.00211	T	-0.59671	0.13089	T	0.00480137679770692	0.00052	T	0.643636	0.25592	T	0.026224706	0.01653	0.04886347	0.07347	0.026224706	0.01653	0.04886347	0.07346	-3.752	0.22077	T	.	.	0.123	0.35247	B	.;.;.	.;.;.	1.788939	0.22740	15.74	0.87281711957695274	0.17116	0.53669	0.29428	D	AEFGBI	0.084856	0.17200	N	-0.513183891308574	0.21653	1.150718	-0.355549339792196	0.26337	1.454112	0.701617323053937	0.22707	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	3.67	0.41236	2.017000	0.40600	2.122000	0.30726	-0.103000	0.15852	0.738000	0.29006	0.939000	0.28734	0.944000	0.48669	0.0863:0.0:0.7481:0.1656	7.432	0.26307	490	0.76723	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	661.98	51	chr1	169851821	.	G	A	661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.112;DP=736;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.310e+00;SOR=0.287	GT:AD:DP:GQ:PL	0/1:25,26:51:99:676,0,667	20	0	1	0
chr1	170996581	170996581	A	C	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon14:c.A1412C:p.E471A	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	0.347	N	1.000	N	-0.69	N	2.44	T	-1.015	T	0.024	T	0.19	0.995	9.062	-8.03	-1.608	-0.798	1.474	0.043	0.00766098047271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.15354	T	0.081	0.41742	T	0.0	0.02946	B	0.0	0.01387	B	0.347193	0.13872	N	0.699306	1	0.08975	N	-0.69	0.01958	N	-0.31	0.68030	T	-1.99	0.49519	N	0.177	0.19593	-1.0152	0.25272	T	0.024	0.10284	T	10	0.049176633	0.04470	T	0.007661	0.20325	T	0.043	0.11576	0.51	0.60693	0.0986583533028	0.09354	0.2253437133148249	0.22449	0.0580847222428	0.06430	0.292782664299	0.09329	T	0.053956	0.29588	T	-0.209759	0.19413	T	-0.539081	0.18387	T	0.445456981658936	0.30630	T	0.270573	0.04555	T	0.03782119	0.04923	0.038033508	0.03584	0.03782119	0.04922	0.038033508	0.03584	-5.284	0.39784	T	.	.	0.118	0.24157	B	.;.	.;.	0.124696	0.05214	1.724	0.43666708499899665	0.03303	0.01687	0.05379	N	AEFBI	0.045735	0.07515	N	-2.189817884735	0.00081	0.003461695	-2.19195595817096	0.00117	0.005127977	0.294785221243012	0.19126	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.75	-8.03	0.00984	-0.800000	0.04661	0.530000	0.19240	-1.548000	0.00966	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3359:0.1799:0.3101:0.1742	1.474	0.02275	836	0.38045	.;.	.	.	.	.	.	Uncertain significance	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	1407.98	132	chr1	170996581	.	A	C	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.327e+00;DP=833;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=1.47;SOR=0.608	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1422,0,1973	20	0	1	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	0|1:26,53,0:79:99:1|0:175160788_C_CCTT:1540,0,818,1618,977,2595:175160788	2	5	6	0
chr1	180048592	180048592	A	G	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon22:c.A4679G:p.N1560S,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	B	0.138	B	0.000	D	0.791	N	0.895	L	0.51	T	-1.048	T	0.083	T	0.053	2.924	15.74	1.71	0.375	1.948	3.388	0.068	0.0190679033814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.976	0.02447	T	0.129	0.27048	B	0.079	0.28749	B	0.000258	0.46924	D	0.000000	0.79052	0.29231	N	1.79	0.46772	L	0.51	0.55439	T	-1.09	0.28290	N	0.128	0.12198	-1.0478	0.15016	T	0.083	0.32700	T	9	0.060665965	0.07487	T	0.019068	0.41331	T	0.068	0.19811	0.079	0.00631	0.397785019963	0.39391	0.15660246876639872	0.15581	0.0583062659332	0.06459	0.401030272245	0.25212	T	0.007847	0.07229	T	-0.217341	0.18358	T	-0.549972	0.17329	T	0.332657903432846	0.26331	T	0.843516	0.52087	T	0.02572571	0.01544	0.039840765	0.04170	0.02572571	0.01544	0.039840765	0.04170	-2.037	0.03323	T	.	.	0.099	0.16494	B	.	.	2.720015	0.35575	19.93	0.99241997134292304	0.56565	0.94966	0.62953	D	AEFGBI	0.247283	0.36789	N	-0.296427497114363	0.29285	1.622725	-0.176076666662768	0.32418	1.844186	0.239942798567273	0.18560	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.55	1.71	0.23429	1.581000	0.36167	3.963000	0.40764	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.6496:0.141:0.0744:0.135	3.388	0.06856	168	0.93464	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	746.98	92	chr1	180048592	.	A	G	746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=785;ExcessHet=0.0000;FS=0.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=-2.240e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/1:59,33:92:99:761,0,1397	20	0	1	0
chr1	182556054	182556054	G	T	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon21:c.G3228T:p.K1076N	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01181568503	.	0.000199681	9.026e-05	0	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs570097728	8.576e-05	8.277e-05	0.0001	7.1e-05	0.0004	7.315e-05	6.845e-05	8.654e-05	8.134e-05	0	8.404e-05	0	0	2.028e-05	0.0004	0.0001	5.17e-05	0	3.94e-05	3.937e-05	2.57e-05	5.372e-05	8.821e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.821e-05	0	0	0.017	0.51248	D	0.0	0.92824	D	0.94	0.52768	P	0.382	0.43908	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.78	0.25678	T	-0.66	0.19085	N	0.266	0.30118	.	.	.	.	.	.	.	0.0526793	0.05339	T	0.011816	0.29821	T	.	.	.	.	0.134241683229	0.13084	0.16257599924072025	0.16177	.	.	0.443956077099	0.31117	T	0.004955	0.04374	T	-0.485454	0.00688	T	-0.650384	0.08927	T	.	.	.	0.419058	0.11093	T	0.087467365	0.20369	0.08191667	0.18655	0.087467365	0.20368	0.08191667	0.18655	-4.415	0.29759	T	.	.	0.286	0.51798	B	.	.	0.481140	0.08503	5.267	0.97092821338512558	0.32332	0.02830	0.07572	N	AEFBI	0.036684	0.04928	N	.	.	.	.	.	.	0.0056275874410317	0.10996	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.58	-4.13	0.03639	-0.675000	0.05327	-0.077000	0.12225	-0.123000	0.13640	0.037000	0.20830	0.001000	0.17328	0.243000	0.23080	0.562:0.1508:0.2872:0.0	6.421	0.20948	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1097.98	80	chr1	182556054	.	G	T	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.710;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.977;SOR=0.784	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1112,0,827	20	0	1	0
chr1	182586014	182586014	C	A	exonic	RNASEL	.	stopgain	RNASEL:NM_021133:exon2:c.G793T:p.E265X,	Prostate cancer 1, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	28043	Prostate_cancer,_hereditary,_1|not_provided|RNASEL-related_disorder|Malignant_tumor_of_prostate	MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	0.266	N	1.000	A	.	.	.	.	.	.	.	.	.	5.651	36	3.2	0.522	1.287	7.231	.	.	0.0032	0.00179712	0.0040	0.0012	0.0016	0.0001	0.0064	0.0058	0.0022	0.0014	0.0007827	121	154602	rs74315364	0.0037	0.0037	0.0037	0.0037	0.0050	0.0036	0.0036	0.0039	0.0038	0.0007	0.0023	0.0037	0	0.0081	0.0050	0.0040	0.0040	0.0014	0.0033	0.0033	0.0034	0.0031	0.0058	0.0030	0.0029	0.0048	0.0045	0.0008	0	0.0058	0.0040	0	0.0062	0.0102	0.0040	0.0061	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.265981	0.15220	N	0.645766	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.53	0.55886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278776	0.81212	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.253031	0.94884	34	0.99473489894486611	0.66472	0.59352	0.30891	D	AEFBCI	0.109063	0.21675	N	0.397520873932774	0.61287	4.328	0.100664552756241	0.44583	2.737254	0.999958239648987	0.48110	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.15	3.2	0.35826	0.951000	0.28733	1.735000	0.28356	0.596000	0.33519	0.634000	0.28033	0.916000	0.28226	0.337000	0.25363	0.0:0.6949:0.1423:0.1628	7.231	0.25215	814	0.42100	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1943.98	158	chr1	182586014	.	C	A	1943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.990e-01;DP=967;ExcessHet=0.0000;FS=3.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.60;SOR=0.430	GT:AD:DP:GQ:PL	0/1:79,79:158:99:1958,0,2020	20	0	1	0
chr1	182586632	182586632	C	T	exonic	RNASEL	.	nonsynonymous SNV	RNASEL:NM_021133:exon2:c.G175A:p.G59S,	Prostate cancer 1, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	696306	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	0.828	D	2.515	M	-0.77	T	-0.056	T	0.433	T	0.288	2.810	15.36	2.78	0.503	1.575	5.830	0.404	0.282209475347	0.0029	0.00179712	0.0039	0.0011	0.0016	0.0001	0.0064	0.0057	0.0022	0.0014	0.0038421	594	154602	rs151296858	0.0037	0.0037	0.0037	0.0037	0.0050	0.0036	0.0036	0.0038	0.0038	0.0007	0.0023	0.0036	0	0.0081	0.0050	0.0039	0.0038	0.0014	0.0032	0.0032	0.0033	0.0031	0.0058	0.0030	0.0029	0.0048	0.0045	0.0008	0	0.0058	0.0040	0	0.0062	0.0102	0.0039	0.0066	0.0008	0.014	0.53172	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000238	0.47286	D	0.092623	0.828143	0.34877	D	2.675	0.78361	M	-0.77	0.73523	T	-2.72	0.57920	D	0.373	0.41459	-0.0561	0.81076	T	0.433	0.77407	T	10	0.011879116	0.00258	T	0.282209	0.90271	D	0.404	0.71714	.	.	0.899975434759	0.89898	0.6521194599782478	0.65147	0.353358450785	0.37142	0.341807186604	0.16709	T	0.14315	0.47911	T	-0.358014	0.04243	T	-0.284704	0.46321	T	0.0155207808445425	0.00352	T	0.866813	0.57669	D	0.5932893	0.72328	0.29274562	0.55302	0.48848408	0.66413	0.36661318	0.61987	-7.32	0.56337	T	0.7356181664637591	0.81748	0.236	0.46938	B	.;.	.;.	3.864197	0.56056	23.7	0.99757088460765497	0.84772	0.83379	0.42501	D	ALL	0.134145	0.25405	N	0.27247755598839	0.54758	3.640689	0.124296988360065	0.45796	2.836363	0.999999999999983	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.71	2.78	0.31702	1.836000	0.38831	3.264000	0.37112	0.545000	0.25583	0.992000	0.37556	0.998000	0.33993	0.400000	0.26782	0.1551:0.6825:0.0:0.1625	5.830	0.17828	814	0.42100	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1792.98	141	chr1	182586632	.	C	T	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=903;ExcessHet=0.0000;FS=2.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1807,0,1766	20	0	1	0
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS,	.	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14067.83	177	chr1	201209837	.	A	G,AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	14067.83	.	AC=3,4;AF=0.214,0.286;AN=14;BaseQRankSum=1.99;DP=7537;ExcessHet=3.1160;FS=2.726;InbreedingCoeff=-0.4173;MLEAC=5,7;MLEAF=0.357,0.500;MQ=52.14;MQRankSum=-6.885e+00;QD=7.29;ReadPosRankSum=-1.433e+01;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,0,0:177:99:.:.:1947,0,5125,143,5162,5358	0	0	3	14
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|1:130,21:151:19:0|1:204444146_C_T:19,0,4346:204444146	10	0	11	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.985	D	0.000	D	1.000	D	1.005	L	0.14	T	-0.723	T	0.246	T	0.971	3.959	20.3	5.98	2.288	3.844	10.472	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1053.66	151	chr1	204444147	.	A	G	1053.66	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.399e+00;DP=2661;ExcessHet=3.5521;FS=172.132;InbreedingCoeff=-0.2533;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.46;SOR=11.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,21:151:19:0|1:204444146_C_T:19,0,4346:204444146	12	0	8	1
chr1	204618461	204618461	C	T	exonic	LRRN2	.	nonsynonymous SNV	LRRN2:NM_201630:exon2:c.G1532A:p.S511N	.	.	410	1109	1	0	2	3	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.011	B	0.033	B	0.038	N	1.000	N	0.82	L	-0.31	T	-0.987	T	0.154	T	0.031	0.256	5.385	2.32	0.204	0.355	7.735	0.041	0.0115361977925	.	0.00159744	0.0011	0.0007	0.0011	0	0	0.0015	0.0022	0.0008	0.0011837	183	154602	rs76468836	0.0013	0.0013	0.0014	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	8.961e-05	0.0014	3.826e-05	0	7.489e-05	0.0005	0.0016	0.0014	0.0006	0.0010	0.0010	0.0011	0.0009	0.0018	0.0009	0.0008	0.0013	0.0012	0.0004	0	0.0018	0	0	0	0	0.0015	0.0014	0.0006	0.203	0.20154	T	0.33	0.18560	T	0.011	0.15914	B	0.033	0.22329	B	0.037551	0.24389	N	0.293785	1	0.08975	N	1.075	0.27130	L	-0.31	0.68030	T	-1.14	0.29323	N	0.054	0.02559	-0.9865	0.33469	T	0.154	0.48412	T	10	0.008836746	0.00200	T	0.011536	0.29267	T	0.041	0.10877	.	.	0.492749560936	0.48908	0.5439334695986374	0.54319	0.412352421921	0.41979	0.556581377983	0.46785	T	0.024041	0.18239	T	-0.569128	0.00224	T	-0.595837	0.13163	T	0.00446389915369691	0.00048	T	0.566543	0.20051	T	0.121992014	0.28677	0.100350134	0.23991	0.121992014	0.28676	0.100350134	0.23991	-4.803	0.34627	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.213711	0.16070	12.30	0.94258309782672767	0.24536	0.08655	0.14553	N	AEFDBI	0.065812	0.12857	N	-0.754675980214169	0.14505	0.723185	-0.713290252859593	0.16631	0.8806551	0.999540872929084	0.40300	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.27	2.32	0.27895	0.635000	0.24318	0.418000	0.18188	0.549000	0.26987	0.000000	0.06391	0.028000	0.21151	0.995000	0.73285	0.0:0.4903:0.3628:0.1469	7.735	0.27975	770	0.49152	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2104.98	141	chr1	204618461	.	C	T	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.910e-01;DP=1773;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.228;SOR=0.758	GT:AD:DP:GQ:PL	0/1:59,82:141:99:2119,0,1488	20	0	1	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	0/1:130,32:162:12:12,0,2842	13	0	8	0
chr1	216198340	216198340	C	G	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon18:c.G4056C:p.W1352C	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	1.0	D	0.001	U	1.000	D	3.235	M	0.58	T	-0.044	T	0.448	T	0.873	3.880	19.72	5.56	2.619	4.810	19.536	0.373	0.125635589755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.915	0.97372	D	0.000972	0.40836	U	0.000000	1	0.81001	D	3.715	0.94732	H	0.58	0.54149	T	-8.26	0.97942	D	0.745	0.76853	-0.0441	0.81331	T	0.448	0.78318	T	10	0.83187044	0.82349	D	0.125636	0.80718	D	0.373	0.69188	0.391	0.41443	0.844514592233	0.84302	0.6634171615678081	0.66278	0.153881245274	0.17371	0.500940382481	0.38959	T	0.393815	0.75312	T	0.267661	0.80231	D	0.147	0.79975	D	0.999572217464447	0.97978	D	0.80342	0.45053	T	0.8991477	0.91306	0.85981107	0.92166	0.8991477	0.91308	0.85981107	0.92166	-12.194	0.86685	D	0.7804321588867548	0.86039	0.838	0.79500	P	.;.	.;.	3.553470	0.49967	22.9	0.99193955044977311	0.55053	0.97939	0.78280	D	AEFI	0.642414	0.61940	D	0.815104492602586	0.87043	9.083311	0.751415195389132	0.86263	8.833466	0.999969816312926	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.885000	0.62834	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.536	0.95248	851	0.35303	Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	681.98	61	chr1	216198340	.	C	G	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.111e+00;DP=751;ExcessHet=0.0000;FS=1.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-2.900e-02;SOR=0.951	GT:AD:DP:GQ:PL	0/1:30,31:61:99:696,0,841	20	0	1	0
chr1	218331058	218331058	C	-	exonic	RRP15	.	frameshift deletion	RRP15:NM_016052:exon5:c.816delC:p.S272Rfs*15,	.	.	437	1042	40	3	0	46	0.0215962	.	.	718646	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00259585	0.0048	0.0004	0.0013	0.0001	0.0003	0.0049	0.0099	0.0135	0.0021899	57	26028	rs541335404	0.0046	0.0046	0.0042	0.0050	0.0153	0.0045	0.0045	0.0147	0.0144	0.0006	0.0017	0.0104	0	0.0006	0.0118	0.0042	0.0053	0.0153	0.0032	0.0032	0.0032	0.0031	0.0112	0.0029	0.0028	0.0088	0.0080	0.0007	0	0.0024	0.0138	0	0.0004	0.0306	0.0043	0.0052	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	898.94	73	chr1	218331057	.	GC	G	898.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.510e-01;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=1.15;SOR=0.788	GT:AD:DP:GQ:PL	0/1:45,28:73:99:913,0,1597	20	0	1	0
chr1	223223463	223223463	G	C	exonic	SUSD4	.	nonsynonymous SNV	SUSD4:NM_017982:exon8:c.C1230G:p.S410R,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.651	P	0.198	B	0.000	D	1.000	D	1.245	L	1.58	T	-1.120	T	0.055	T	0.221	2.461	14.19	3.3	0.583	1.230	10.063	0.018	0.0206905089061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.13	0.35082	T	0.651	0.40707	P	0.198	0.36766	B	0.000012	0.62929	D	0.000000	0.983044	0.41010	D	0.805	0.20218	L	1.51	0.30937	T	-1.04	0.27259	N	0.516	0.55972	-1.1197	0.02350	T	0.055	0.23338	T	10	0.16372544	0.30650	T	0.020691	0.43334	T	0.086	0.25016	0.166	0.07071	0.110078149338	0.10416	0.2737167716299504	0.27284	0.568687442677	0.53073	0.533136487007	0.43476	T	0.019105	0.15279	T	-0.218107	0.18252	T	-0.551072	0.17223	T	0.732620179653168	0.42346	D	0.90461	0.66442	D	0.12577257	0.29475	0.14443545	0.34291	0.12577257	0.29475	0.14443545	0.34290	-4.063	0.24743	T	.	.	0.503	0.67635	A	.;.;.;.	.;.;.;.	2.562012	0.33183	19.26	0.99179532501413148	0.54643	0.95857	0.66452	D	AEFDBI	0.553023	0.56444	D	-0.312150007320402	0.28685	1.584288	-0.22927319628837	0.30491	1.717321	0.00178567423163663	0.08881	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.16	3.3	0.36912	1.286000	0.32877	1.260000	0.25225	-0.724000	0.03774	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.2254:0.0:0.7746:0.0	10.063	0.41461	840	0.37365	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1012.98	84	chr1	223223463	.	G	C	1012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.680e-01;DP=784;ExcessHet=0.0000;FS=2.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-6.730e-01;SOR=0.411	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1027,0,1238	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	0/1:9,7,0:16:99:242,0,342,270,363,633	8	0	12	0
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.112	B	0.061	B	.	.	1.000	D	.	.	3.13	T	-0.960	T	0.017	T	0.139	2.173	13.22	4.96	1.975	1.458	12.415	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	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	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	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	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,19,0,0:81:99:0|1:225353860_A_G:291,0,2200,477,2256,2733,477,2256,2733,2733:225353860	12	0	5	2
chr1	225353861	225353862	AC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11592_11593del:p.K3864Nfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,19,0,0:81:99:0|1:225353860_A_G:291,0,2200,477,2256,2733,477,2256,2733,2733:225353860	12	0	5	2
chr1	225353860	225353862	AAC	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,19,0,0:81:99:0|1:225353860_A_G:291,0,2200,477,2256,2733,477,2256,2733,2733:225353860	12	0	5	2
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|1:62,19,0:81:99:0|1:225353860_A_G:291,0,2200,477,2256,2733:225353860	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|1:62,19,0,0:81:99:0|1:225353860_A_G:291,0,2200,477,2256,2733,477,2256,2733,2733:225353860	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|1:62,19,0,0:81:99:0|1:225353860_A_G:291,0,2200,477,2256,2733,477,2256,2733,2733:225353860	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|1:62,19,0,0:81:99:0|1:225353860_A_G:291,0,2200,477,2256,2733,477,2256,2733,2733:225353860	12	0	5	1
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	0/1:57,39,0:96:99:156,0,874,314,974,1289	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	0/1:57,39,0:96:99:156,0,874,314,974,1289	3	0	12	4
chr1	228249974	228249974	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon14:c.C4043T:p.A1348V	.	.	0	1521	1	0	0	1	0.000328623	.	.	3219226	OBSCN-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.314	B	0.024	B	0.243	N	1.000	N	-0.625	N	3.72	T	-0.962	T	0.005	T	0.019	-0.309	2.528	-1.66	-0.205	-2.492	4.084	0.006	0.0214078220831	0.0002	.	0.0001	0	8.64e-05	0	0	0.0002	0	0.0002	0.0001164	18	154602	rs199655077	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	4.473e-05	0	0	0	0.0003	0.0003	0.0001	0.0002	0.0001	0.0001	0.0001	8.056e-05	0.0002	6.506e-05	5.318e-05	0.0001	9.897e-05	2.405e-05	0	0	0	0	0	0	0.0002	0	0.0002	0.637	0.59928	T	1.0	0.04247	T	0.314	0.32870	B	0.024	0.20255	B	0.242523	0.03592	N	1.591470	1	0.08975	N	-0.36	0.03115	N	3.72	0.05642	T	0.96	0.49684	N	0.064	0.04188	-0.9621	0.38781	T	0.005	0.01797	T	10	0.03290826	0.01453	T	0.021408	0.44174	T	0.006	0.00375	.	.	0.162503812791	0.15892	0.03688325079480214	0.03635	0.0951696656371	0.10743	0.244130223989	0.03174	T	0.017117	0.14019	T	-0.630341	0.00095	T	-0.847026	0.00998	T	0.00500720593865223	0.00054	T	0.0714929	0.00523	T	0.012085523	0.00027	0.022003852	0.00235	0.012085523	0.00027	0.022003852	0.00234	-3.372	0.14682	T	.	.	0.068	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.544409	0.01729	0.128	0.42491709288521495	0.03136	0.01598	0.05188	N	AEFGBI	0.028253	0.02456	N	-1.59984672805965	0.01265	0.0550587	-1.57376419271497	0.01817	0.08276613	5.35112614426073E-4	0.07248	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.31	-1.66	0.07824	-1.356000	0.02716	-8.423000	0.00972	-1.019000	0.01739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2304:0.2721:0.0:0.4975	4.084	0.09413	455	0.79073	.;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2584.98	175	chr1	228249974	.	C	T	2584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.667e+00;DP=1273;ExcessHet=0.0000;FS=4.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=0.409;SOR=0.421	GT:AD:DP:GQ:PL	0/1:73,102:175:99:2599,0,1800	20	0	1	0
chr1	228275844	228275844	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon21:c.G6038A:p.R2013Q	.	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.993	D	0.544	P	0.001	N	1.000	D	1.845	L	3.56	T	-0.917	T	0.016	T	0.312	3.483	17.82	3.58	1.419	3.534	4.342	0.081	0.0372660320973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.745e-06	4.104e-06	4.094e-06	1.38e-06	0.0004	6.4e-07	4.3e-07	6.175e-05	2.552e-05	0	0	0	0	0	0.0004	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.18246	T	0.016	0.67890	D	0.993	0.65571	D	0.544	0.49014	P	0.001152	0.40056	N	0.157358	1	0.81001	D	1.905	0.50856	L	3.56	0.04696	T	-1.63	0.39119	N	0.435	0.47395	-0.9175	0.45891	T	0.016	0.06473	T	10	0.19226977	0.34949	T	0.037266	0.57510	D	0.081	0.23632	0.363	0.36874	0.446111551642	0.44232	0.17333200341863175	0.17253	0.51202870522	0.49259	0.386974424124	0.23242	T	0.032169	0.22369	T	-0.185455	0.22928	T	-0.50417	0.21915	T	0.720954537391663	0.41747	D	0.858314	0.58193	D	0.1248193	0.29276	0.0728957	0.15780	0.1248193	0.29276	0.0728957	0.15780	-7.247	0.55818	T	.	.	0.133	0.28807	B	.;.;.;.;.	.;.;.;.;.	3.812555	0.54996	23.6	0.99193020041881774	0.55053	0.76318	0.37421	D	ALL	0.207127	0.33333	N	-0.284923571530901	0.29731	1.651292	-0.292321629304803	0.28351	1.580113	0.999999999996759	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	5.67	3.58	0.40133	2.959000	0.48846	6.263000	0.55349	-0.149000	0.12139	0.999000	0.42656	1.000000	0.68203	0.459000	0.28096	0.4501:0.0:0.5499:0.0	4.342	0.10553	439	0.80177	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	654.98	65	chr1	228275844	.	G	A	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.636;SOR=0.737	GT:AD:DP:GQ:PL	0/1:39,26:65:99:669,0,880	20	0	1	0
chr1	230979169	230979169	A	T	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon1:c.A64T:p.T22S	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	.	430	1085	7	0	0	7	0.00321543	.	.	696570	not_provided|not_specified|ARV1-related_disorder	MedGen:C3661900|MedGen:CN169374|MedGen:CN235539	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.001	B	0.913	N	1.000	N	0.55	N	0.86	T	-1.027	T	0.071	T	0.067	1.665	11.53	-1.77	-0.329	0.137	6.521	0.007	0.00580231272722	0.0015	0.000599042	0.0019	0.0006	0.0009	0	0.0041	0.0021	0.0023	0.0026	0.0017141	265	154602	rs143532693	0.0028	0.0028	0.0029	0.0027	0.0032	0.0027	0.0027	0.0030	0.0029	0.0004	0.0009	0.0004	5.06e-05	0.0033	0.0009	0.0031	0.0033	0.0032	0.0019	0.0019	0.0019	0.0020	0.0038	0.0017	0.0017	0.0025	0.0023	0.0005	0	0.0015	0.0003	0.0002	0.0040	0	0.0028	0	0.0038	0.285	0.15251	T	0.34	0.22426	T	0.001	0.07471	B	0.001	0.04355	B	0.913311	0.07429	N	1.046320	1	0.08975	N	0.895	0.22405	L	0.86	0.50459	T	-0.14	0.11008	N	0.195	0.28616	-1.0274	0.21299	T	0.071	0.29034	T	10	0.004591197	0.00096	T	0.005802	0.15072	T	0.007	0.00512	0.141	0.04462	0.366466682447	0.36252	0.30130220554409176	0.30043	0.147303705805	0.16616	0.344745635986	0.17145	T	0.095701	0.44257	T	-0.629059	0.00097	T	-0.680054	0.06981	T	0.00164693369886789	0.00017	T	0.471053	0.13966	T	0.03993164	0.05605	0.05423909	0.09290	0.052566446	0.09824	0.059719935	0.11255	-3.333	0.14166	T	.	.	0.079	0.14614	B	.;.	.;.	0.921576	0.12966	9.472	0.80703248959403262	0.13329	0.10166	0.15747	N	ALL	0.080477	0.16272	N	-1.09087936275055	0.06810	0.3145744	-1.12390244618285	0.07245	0.3517004	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	-1.77	0.07551	0.159000	0.16258	0.604000	0.19959	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.067000	0.16453	0.2767:0.0:0.5608:0.1625	6.521	0.21474	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	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	2147.98	149	chr1	230979169	.	A	T	2147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=888;ExcessHet=0.0000;FS=3.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=1.68;SOR=0.891	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2162,0,1584	20	0	1	0
chr1	231353206	231353206	A	T	exonic	SPRTN	.	nonsynonymous SNV	SPRTN:NM_032018:exon5:c.A1315T:p.T439S,	Ruijs-Aalfs syndrome, Autosomal recessive	.	428	1062	32	0	0	32	0.0148423	.	.	718789	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.001	B	0.766	N	1.000	N	0.695	N	1.03	T	-1.009	T	0.035	T	0.043	-0.144	3.295	-2.03	-0.452	-0.228	3.690	0.003	.	0.0074	0.00539137	0.0096	0.0020	0.0021	0.0043	0.0091	0.0124	0.0056	0.0115	0.0092366	1428	154602	rs62617126	0.0094	0.0094	0.0092	0.0096	0.0132	0.0093	0.0092	0.0125	0.0123	0.0014	0.0023	0.0180	0.0060	0.0105	0.0043	0.0097	0.0077	0.0132	0.0073	0.0073	0.0071	0.0075	0.0108	0.0069	0.0068	0.0092	0.0090	0.0016	0.0406	0.0048	0.0170	0.0052	0.0102	0.0068	0.0098	0.0066	0.0108	0.488	0.08042	T	0.772	0.04446	T	0.001	0.07471	B	0.001	0.04355	B	0.766452	0.09581	N	0.899833	1	0.08975	N	1.04	0.26193	L	1.03	0.40469	T	0.34	0.03824	N	0.049	0.02088	-1.0088	0.27292	T	0.035	0.14943	T	10	0.0029574037	0.00048	T	.	.	.	0.003	0.00094	0.146	0.04941	0.161926535498	0.15789	0.08748119875092311	0.08681	0.0190438721776	0.01855	0.259954512119	0.04885	T	0.012346	0.10867	T	-0.697465	0.00038	T	-0.763606	0.02984	T	0.000544040714107174	0.00005	T	0.167583	0.01563	T	0.11201208	0.26467	0.024086496	0.00423	0.08545996	0.19824	0.024086496	0.00423	-2.06	0.03416	T	.	.	0.077	0.06250	B	.	.	-0.627884	0.01498	0.094	0.26093237424666493	0.01234	0.14894	0.18640	N	AEFDGBI	0.071097	0.14141	N	-1.38389940019657	0.02788	0.1236344	-1.3986697233453	0.03266	0.1520182	0.99967855002075	0.41644	0.722319	0.85440	0	0.653731	0.59785	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.41	-2.03	0.06959	-0.228000	0.09119	1.030000	0.23473	-0.085000	0.16207	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1954:0.2353:0.453:0.1163	3.690	0.07877	649	0.63102	.	.	.	.	.	rs62617126	Likely benign	0	0	0	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	1157.98	101	chr1	231353206	.	A	T	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=918;ExcessHet=0.0000;FS=2.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.151e+00;SOR=0.984	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1172,0,1524	20	0	1	0
chr1	231694801	231694801	T	C	exonic	DISC1	.	nonsynonymous SNV	DISC1:NM_001012957:exon2:c.T1043C:p.M348T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.131	B	0.032	B	0.048	N	1.000	N	-0.695	N	1.97	T	-1.018	T	0.021	T	0.185	0.205	5.102	4.85	2.032	4.169	11.933	0.058	0.00446686783063	.	.	1.872e-05	0	9.726e-05	0	0	0	0	6.513e-05	1.29e-05	2	154602	rs754929291	6.159e-06	6.156e-06	1.362e-06	1.101e-05	9.281e-05	2.9e-06	2.1e-06	4.581e-05	3.274e-05	0	0	0	0	0	0	8.994e-07	0	9.281e-05	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.005	0.92824	D	0.001	0.15093	B	0.006	0.17295	B	0.047681	0.23323	N	0.451324	0.999907	0.19694	N	-0.805	0.01590	N	1.97	0.22067	T	-3.45	0.67589	D	0.157	0.26475	-1.0175	0.24528	T	0.021	0.08870	T	10	0.11249301	0.21102	T	0.004467	0.10969	T	0.058	0.16647	0.31	0.28289	0.358540694251	0.35469	0.13801955944092134	0.13725	0.140512986562	0.15849	0.271621584892	0.06353	T	0.011614	0.55930	T	-0.345766	0.04998	T	-0.530846	0.19202	T	0.178032055861235	0.19110	T	0.706729	0.44001	T	0.17947848	0.39020	0.2997775	0.56012	0.17947848	0.39020	0.2997775	0.56011	-3.291	0.56536	T	.	.	0.253	0.48756	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.732156	0.35768	19.98	0.56332895111806169	0.05530	0.96125	0.67647	D	AEFDBI	0.464920	0.51321	N	-0.473915521311834	0.22938	1.228294	-0.28718760893718	0.28520	1.590818	0.999999968756763	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.85	4.85	0.62375	4.424000	0.59617	7.260000	0.57957	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:0.0:1.0	11.933	0.52144	649	0.63102	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1102.98	92	chr1	231694801	.	T	C	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.119e+00;DP=843;ExcessHet=0.0000;FS=1.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.73;SOR=0.505	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1117,0,1174	20	0	1	0
chr1	236024207	236024207	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon9:c.C1991T:p.S664F,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.781	P	0.001	N	0.955	D	1.39	L	-1.8	D	0.646	D	0.687	D	0.467	4.032	20.7	4.82	1.425	5.927	14.476	0.470	0.276681282019	.	.	5.033e-05	9.932e-05	0	0	0	0	0.0023	0.0002	3.88e-05	6	154602	rs781704791	2.052e-05	2.052e-05	8.167e-06	3.3e-05	0.0002	1.456e-05	1.264e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0002	2.698e-06	8.279e-05	0.0002	1.313e-05	1.313e-05	0	2.688e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.018	0.53900	D	0.023	0.60337	D	0.023	0.61118	B	0.023	0.57337	B	0.000874	0.41335	N	0.215575	0.955399	0.37923	D	1.975	0.53506	M	-2.45	0.88847	D	-3.43	0.67941	D	0.502	0.56231	0.646	0.92492	D	0.687	0.89187	D	10	0.41427	0.56434	T	0.276681	0.90081	D	0.470	0.76421	0.457	0.52265	0.912266846232	0.91139	0.5019394987227779	0.50115	0.788420541675	0.65640	0.472366809845	0.35005	T	0.429163	0.77805	T	-0.0792145	0.39841	T	-0.0721276	0.65474	T	0.591818153858185	0.36078	D	0.758424	0.38228	T	0.21796075	0.44291	0.22134997	0.46942	0.21796075	0.44291	0.22134997	0.46941	-9.03	0.75630	D	0.1697063097645595	0.21295	0.179	0.39012	B	.;.	.;.	4.611544	0.73136	25.9	0.99816744225151433	0.89973	0.98783	0.86796	D	AEFDBI	0.869853	0.79056	D	0.278257327753029	0.55049	3.669197	0.367352025696093	0.59559	4.13487	0.999944501238077	0.47345	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.73	4.82	0.61641	4.976000	0.63501	6.632000	0.56155	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0704:0.0:0.9296:0.0	14.476	0.67125	469	0.78175	.;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	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	751.98	53	chr1	236024207	.	G	A	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=-2.059e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,28:53:99:766,0,658	20	0	1	0
chr1	236025962	236025962	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon8:c.G1918A:p.V640I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.762	P	0.000	D	1.000	D	1.79	L	1.81	T	-0.983	T	0.120	T	0.362	4.002	20.5	5.02	2.600	7.213	18.524	0.149	0.00617517277547	0.0002	.	3.296e-05	0.0002	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs146774932	3.831e-05	3.831e-05	3.812e-05	3.85e-05	5.974e-05	3.026e-05	2.719e-05	3.343e-05	2.956e-05	5.974e-05	0	0	5.038e-05	0	0	4.317e-05	3.311e-05	2.319e-05	2.676e-05	2.642e-05	0	5.48e-05	9.849e-05	8.25e-06	5.22e-06	3.295e-05	1.946e-05	9.849e-05	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.212	0.31629	T	0.999	0.77913	D	0.762	0.56524	P	0.000001	0.84330	D	0.054431	0.999915	0.51042	D	2.15	0.60148	M	1.81	0.25182	T	-0.96	0.25551	N	0.396	0.46086	-0.9829	0.34328	T	0.120	0.41886	T	10	0.32576776	0.49883	T	0.006175	0.16170	T	0.149	0.39377	.	.	0.41921206133	0.41539	0.19803181345822818	0.19720	0.259823969482	0.28543	0.576422691345	0.49582	T	0.102095	0.40949	T	-0.214851	0.18700	T	-0.364867	0.37487	T	0.46420830488205	0.31319	T	0.824218	0.63001	T	0.18883595	0.40400	0.14476198	0.34357	0.18883595	0.40400	0.14476198	0.34356	-8.615	0.66191	D	0.5477912061183626	0.61671	0.164	0.36633	B	.;.	.;.	4.239142	0.64256	24.7	0.99835567958628368	0.91628	0.98825	0.87349	D	AEFDBI	0.903426	0.85249	D	0.605780415660423	0.73540	5.982756	0.631413978566983	0.77233	6.640079	0.999999999932554	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	5.755000	0.68406	7.520000	0.59748	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	18.524	0.90918	469	0.78175	.;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	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	1096.98	125	chr1	236025962	.	C	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.517;DP=817;ExcessHet=0.0000;FS=0.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=-1.962e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1111,0,1438	20	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.06	96	chr1	240207634	.	G	C,*	10864.06	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=0.439;DP=1592;ExcessHet=1.5138;FS=0.581;InbreedingCoeff=-0.0794;MLEAC=9,1;MLEAF=0.225,0.025;MQ=59.94;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.210e-01;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,53,0:96:99:0|1:240207634_G_C:1801,0,1647,1254,1805,3017:240207634	11	1	7	1
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|1:45,54,0:99:99:0|1:240207634_G_C:1817,0,1728,1279,1889,3133:240207634	10	1	8	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	.	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	530.07	66	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	530.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.660e-01;DP=1545;ExcessHet=0.1072;FS=3.693;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.24;MQRankSum=0.00;QD=6.54;ReadPosRankSum=-2.083e+00;SOR=1.072	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,20:66:99:0|1:240207634_G_C:370,0,1868:240207634	19	0	2	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	0/1:17,14,0,0:31:99:.:.:276,0,344,325,385,710,325,385,710,710	6	1	7	3
chr1	248203803	248203803	T	A	exonic	OR2M3	.	nonsynonymous SNV	OR2M3:NM_001004689:exon1:c.T736A:p.L246M,	.	.	.	.	.	.	.	.	.	.	.	2344942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.002	B	0.579	N	1.000	N	-0.255	N	1.01	T	-1.065	T	0.040	T	0.149	-0.587	1.368	-2.35	-0.659	-0.443	1.063	0.012	0.000808557699564	.	.	2.472e-05	0	0	0.0001	0	1.498e-05	0	6.056e-05	7.68e-05	2	26028	rs765106571	2.533e-05	2.941e-05	1.907e-05	3.164e-05	0.0002	1.869e-05	1.632e-05	2.083e-05	1.782e-05	0	0	0	5.038e-05	0	0.0002	2.878e-05	0	2.32e-05	1.972e-05	1.97e-05	0	4.038e-05	0.0002	5.24e-06	2.46e-06	.	.	2.415e-05	0	0	0	0	9.42e-05	0	0	0	0.0002	0.685	0.04366	T	0.244	0.24123	T	0.0	0.02946	B	0.002	0.06944	B	0.579148	0.05525	N	1.312740	1	0.08975	N	-0.705	0.01820	N	1.01	0.41058	T	0.62	0.02442	N	0.076	0.05037	-1.0652	0.10502	T	0.040	0.17362	T	10	0.036752105	0.01990	T	8.09E-4	0.00649	T	0.012	0.01476	0.443	0.49975	0.104622674875	0.10061	0.029960207494235513	0.02945	0.0574566319078	0.06361	0.203706562519	0.00572	T	0.007722	0.07108	T	-0.455513	0.01047	T	-0.689436	0.06421	T	0.0402487247546791	0.03736	T	0.0469953	0.00336	T	0.053040255	0.09979	0.031567313	0.01763	0.053040255	0.09978	0.031567313	0.01763	-3.343	0.14298	T	.	.	0.092	0.13597	B	.;.	.;.	-0.611962	0.01539	0.100	0.097726069907511051	0.00107	0.00118	0.00744	N	AEFGI	0.012799	0.00150	N	-1.68468202411566	0.00897	0.03884133	-1.72639548472455	0.01026	0.04599812	7.18997428478113E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.54	-2.35	0.06302	-0.762000	0.04851	-20.000000	0.00162	-2.391000	0.00297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4967:0.1542:0.1981:0.1509	1.063	0.01504	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	1	0	0	0	0.02381	3729.98	296	chr1	248203803	.	T	A	3729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.709e+00;DP=1350;ExcessHet=0.0000;FS=1.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=-1.461e+00;QD=12.60;ReadPosRankSum=-7.200e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/1:153,143:296:99:3744,0,4225	20	0	1	0
chr1	248682162	248682162	G	T	exonic	OR14I1	.	nonsynonymous SNV	OR14I1:NM_001004734:exon1:c.C143A:p.T48N,	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.88	P	0.424	B	0.006	N	1.000	N	2.125	M	4.06	T	-1.023	T	0.015	T	0.158	1.701	11.65	1.23	0.575	-2.043	6.34	0.047	0.00132740180953	0.0005	.	0.0003	0	0.0002	0	0	0.0004	0.0022	0.0004	0.0002329	36	154602	rs149611560	0.0005	0.0005	0.0005	0.0005	0.0111	0.0005	0.0004	0.0085	0.0076	0.0004	0.0006	0.0007	0	1.882e-05	0.0111	0.0005	0.0008	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	9.624e-05	0	0.0004	0.0012	0	0	0.0408	0.0003	0.0005	0	0.005	0.63226	D	0.003	0.76473	D	0.88	0.48402	P	0.424	0.45210	B	0.005895	0.32428	N	0.138351	1	0.08975	N	1.67	0.42885	L	4.06	0.03063	T	-3.48	0.67941	D	0.121	0.11197	-1.0230	0.22736	T	0.015	0.06138	T	10	0.05048734	0.04788	T	0.001327	0.01885	T	0.047	0.12962	.	.	0.12205267543	0.11705	0.08912405562032685	0.08845	0.223301758412	0.24858	0.23038713634	0.01997	T	0.008179	0.07523	T	-0.538024	0.00344	T	-0.663439	0.08036	T	0.0989147989587565	0.12237	T	0.205479	0.02425	T	0.3796576	0.59291	0.37194642	0.62414	0.3796576	0.59292	0.37194642	0.62413	-7.163	0.55215	T	.	.	0.116	0.23395	B	.	.	0.936583	0.13123	9.623	0.96170069052218854	0.28926	0.01201	0.04282	N	AEFBI	0.025600	0.01782	N	-0.478545224135619	0.22785	1.219074	-0.700452710326486	0.16949	0.8990124	2.27139870506645E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.35	1.23	0.20358	-5.597000	0.00132	-11.915000	0.00565	-0.275000	0.06596	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1166:0.1853:0.6981:0.0	6.34	0.20523	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1779.98	111	chr1	248682162	.	G	T	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.427;DP=2435;ExcessHet=0.0000;FS=4.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.04;ReadPosRankSum=-1.474e+00;SOR=0.360	GT:AD:DP:GQ:PL	0/1:45,66:111:99:1794,0,1663	20	0	1	0
chr1	248847552	248847552	G	A	exonic	ZNF672	.	nonsynonymous SNV	ZNF672:NM_024836:exon4:c.G278A:p.R93Q,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2330327	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.319	B	0.02	B	.	.	1.000	N	0.815	L	2.47	T	-1.014	T	0.024	T	0.188	2.412	14.02	0.81	0.458	1.440	5.424	0.089	0.0261068710196	.	.	2.612e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760994361	8.157e-05	8.551e-05	7.06e-05	9.27e-05	0.0002	6.931e-05	6.476e-05	0.0001	0.0001	0	7.119e-05	0	0	0	0.0002	8.265e-05	6.736e-05	0.0002	5.255e-05	5.253e-05	3.853e-05	6.723e-05	0.0003	2.556e-05	1.83e-05	8.874e-05	5.384e-05	0	0	0.0003	0	0	0	0	4.41e-05	0	0.0002	0.119	0.28026	T	0.004	0.74150	D	0.319	0.32965	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	0.885	0.21608	L	2.47	0.14783	T	-0.21	0.10308	N	0.102	0.08506	-1.0138	0.25720	T	0.024	0.10148	T	9	0.07163003	0.10585	T	0.026107	0.49041	D	0.089	0.25827	0.34	0.33141	0.0716867268079	0.06686	0.03938788522988525	0.03884	1.59567640353	0.88605	0.69647359848	0.66635	T	0.013908	0.11938	T	-0.275917	0.11105	T	-0.634112	0.10103	T	0.0926269036797822	0.11525	T	0.610439	0.23144	T	0.03860796	0.05176	0.039650474	0.04108	0.03860796	0.05176	0.039650474	0.04108	-5.22	0.39144	T	.	.	0.105	0.19357	B	.	.	1.938130	0.24616	16.46	0.99842707380573426	0.92316	0.08106	0.14075	N	AEFDBI	0.072751	0.14528	N	-0.755689038227378	0.14479	0.7215928	-0.830109237201391	0.13766	0.7159369	0.998020049294398	0.36327	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	3.97	0.81	0.17873	-0.045000	0.11957	0.639000	0.20302	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2084:0.17:0.6216:0.0	5.424	0.15716	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1793.98	135	chr1	248847552	.	G	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.906;DP=940;ExcessHet=0.0000;FS=1.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-2.700e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/1:61,74:135:99:1808,0,1289	20	0	1	0
chr2	11638723	11638723	C	T	exonic	GREB1	.	nonsynonymous SNV	GREB1:NM_014668:exon32:c.C5600T:p.S1867L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.866	P	0.216	B	0.003	N	1.000	D	1.39	L	3.22	T	-1.107	T	0.053	T	0.26	2.912	15.71	4.34	1.151	3.002	15.718	0.031	0.00929250181933	.	0.000199681	2.485e-05	0	8.643e-05	0.0001	0	0	0	6.058e-05	2.59e-05	4	154602	rs558861861	8.894e-06	8.893e-06	8.168e-06	9.627e-06	0.0002	4.96e-06	3.82e-06	9.89e-06	4.56e-06	5.974e-05	2.236e-05	0	0	0	0.0002	3.598e-06	3.312e-05	3.478e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.536e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	6.536e-05	0	0	0	0	0	0	0	0.098	0.30800	T	0.134	0.34241	T	0.866	0.47610	P	0.216	0.37572	B	0.003185	0.35300	N	0.308886	0.987171	0.42890	D	0	0.06538	N	3.22	0.23688	T	-2.68	0.64019	D	0.357	0.39962	-1.1068	0.03359	T	0.053	0.22462	T	10	0.10580769	0.19576	T	0.009293	0.24389	T	0.031	0.07369	0.258	0.20002	0.42069145522	0.41685	0.20573824959630901	0.20490	0.98701007196	0.73944	0.469047188759	0.34549	T	0.019485	0.15513	T	-0.293536	0.09284	T	-0.490292	0.23361	T	0.333655179731828	0.26371	T	0.917108	0.70302	D	0.11122115	0.26284	0.10963509	0.26424	0.11122115	0.26284	0.10963509	0.26423	-3.507	0.16529	T	.	.	0.107	0.21803	B	.;.;.	.;.;.	3.490409	0.48788	22.7	0.99785799977665623	0.87219	0.90190	0.51173	D	AEFDBI	0.498570	0.53261	N	-0.0267872699168857	0.40646	2.417321	-0.0378511088793883	0.38020	2.234141	0.998698574997806	0.37477	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.24	4.34	0.51267	3.060000	0.49648	2.568000	0.33349	0.599000	0.40250	0.716000	0.28781	0.294000	0.24182	0.464000	0.28207	0.0:0.8629:0.1371:0.0	15.718	0.77447	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	921.98	73	chr2	11638723	.	C	T	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=760;ExcessHet=0.0000;FS=3.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.287;SOR=1.121	GT:AD:DP:GQ:PL	0/1:36,37:73:99:936,0,761	20	0	1	0
chr2	17516179	17516179	C	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.G2237A:p.R746Q	.	.	437	1069	15	1	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.98	T	-0.949	T	0.023	T	0.098	0.266	5.436	1.84	-0.011	-0.444	7.759	0.012	.	0.0002	0.000798722	0.0019	0.0001	0.0005	0	0.0003	0.0007	0.0033	0.0105	0.00163	252	154602	rs200773447	0.0011	0.0011	0.0007	0.0015	0.0117	0.0011	0.0010	0.0111	0.0109	2.989e-05	0.0007	0.0058	5.045e-05	5.638e-05	0.0089	0.0002	0.0015	0.0117	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	4.81e-05	0	0.0012	0.0032	0	0.0002	0.0068	0.0003	0.0005	0.0087	0.632	0.05121	T	0.591	0.08189	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	1.98	0.21865	T	0.79	0.01893	N	0.025	0.00485	-0.9490	0.41143	T	0.023	0.09604	T	9	0.0025319457	0.00038	T	.	.	.	0.012	0.01476	.	.	0.0551355673512	0.04727	0.028590898453410923	0.02809	0.0693334402013	0.07761	0.246480032802	0.03406	T	7.49E-4	0.00347	T	-0.663463	0.00060	T	-0.7164	0.04971	T	0.00516449866850072	0.00056	T	0.217878	0.02755	T	0.034361023	0.03840	0.06580975	0.13390	0.034361023	0.03840	0.06580975	0.13390	-2.718	0.07455	T	.	.	0.086	0.10787	B	.	.	0.467568	0.08370	5.125	0.33072046989265746	0.01951	0.00190	0.01102	N	AEFBI	0.025622	0.01787	N	-1.30129592362483	0.03661	0.1639218	-1.26842011852566	0.04864	0.2304515	0.0225252316555484	0.13437	0.446893	0.09132	0	0.491513	0.07743	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.25	1.84	0.24348	-0.451000	0.06869	-0.971000	0.06745	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.618000	0.31844	0.0:0.3654:0.0:0.6346	7.759	0.28105	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	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	2295.98	160	chr2	17516179	.	C	T	2295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=1279;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-8.600e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:73,87:160:99:2310,0,1625	20	0	1	0
chr2	26191330	26191330	C	T	exonic	HADHA	.	nonsynonymous SNV	HADHA:NM_000182:exon20:c.G2212A:p.A738T,	Fatty liver, acute, of pregnancy, Autosomal recessive;HELLP syndrome, maternal, of pregnancy, Autosomal recessive;LCHAD deficiency, Autosomal recessive;Trifunctional protein deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.003	B	0.008	B	0.041	N	1.000	D	1.715	L	-2.6	D	-0.374	T	0.520	D	0.344	2.451	14.15	4.61	1.397	3.051	7.085	0.263	0.046598793739	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1193924531	2.052e-06	2.052e-06	0	4.125e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.12148	T	0.355	0.17217	T	0.003	0.11197	B	0.008	0.13708	B	0.040784	0.24019	N	0.468118	0.760197	0.34029	D	1.52	0.38360	L	-2.6	0.89888	D	-0.43	0.14390	N	0.354	0.39558	-0.3742	0.72833	T	0.520	0.82053	D	10	0.19289654	0.35037	T	0.046599	0.62531	D	0.263	0.57612	0.295	0.25881	0.852815230955	0.85140	0.16224151458464095	0.16144	0.217603358621	0.24282	0.344881087542	0.17166	T	0.30221	0.67462	T	0.0364323	0.56575	T	-0.185444	0.56016	T	0.270102441310883	0.23752	T	0.70043	0.31009	T	0.13081864	0.30512	0.08357255	0.19160	0.13081864	0.30512	0.08357255	0.19160	-5.084	0.37738	T	.	.	0.071	0.05103	B	.;.;.	.;.;.	2.468601	0.31817	18.85	0.9815350982837151	0.38705	0.93484	0.58342	D	AEFBCI	0.597338	0.59116	D	-0.183351864296997	0.33827	1.923656	-0.0252861029009588	0.38576	2.274759	0.999999896889448	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.51	4.61	0.56724	3.094000	0.49919	2.381000	0.32486	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.914000	0.44937	0.1794:0.7339:0.0:0.0867	7.085	0.24428	688	0.59122	3-hydroxyacyl-CoA dehydrogenase, C-terminal;.;3-hydroxyacyl-CoA dehydrogenase, 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	2048.98	153	chr2	26191330	.	C	T	2048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=856;ExcessHet=0.0000;FS=4.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-4.910e-01;SOR=0.457	GT:AD:DP:GQ:PL	0/1:74,79:153:99:2063,0,1882	20	0	1	0
chr2	27216935	27216935	C	T	exonic	ATRAID	.	nonsynonymous SNV	ATRAID:NM_001170795:exon7:c.C677T:p.A226V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.376	B	0.084	B	0.001	N	0.594	N	0.975	L	0.82	T	-1.025	T	0.067	T	0.533	1.311	10.29	4.59	2.620	1.780	6.366	0.148	0.00597793430269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.363	0.16815	T	0.376	0.34240	B	0.084	0.29270	B	0.001049	0.40475	N	0.238919	0.805152	0.30998	N	1.04	0.26193	L	0.69	0.51714	T	-0.45	0.14782	N	0.176	0.18920	-1.0254	0.21952	T	0.067	0.27606	T	10	0.075443715	0.11662	T	0.005978	0.15608	T	0.148	0.39182	0.159	0.06287	0.344945010812	0.34105	0.5708235902116919	0.57010	0.160772206657	0.18148	0.505143582821	0.39544	T	0.008347	0.07671	T	-0.0644003	0.42216	T	-0.330283	0.41438	T	0.75575864315033	0.43609	D	0.762724	0.43036	T	0.068329506	0.14877	0.100089245	0.23919	0.068329506	0.14877	0.100089245	0.23918	-4.544	0.33598	T	.	.	0.158	0.34949	B	.;.;.;.	.;.;.;.	3.130068	0.42292	21.5	0.9016651794435524	0.19443	0.44289	0.27285	N	AEFDBHCI	0.429384	0.49252	N	-0.136288082849336	0.35819	2.062378	0.0469347926981406	0.41925	2.526952	0.999993159270341	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.58	4.59	0.56297	1.815000	0.38620	3.953000	0.40689	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.8473:0.0:0.1527	6.366	0.20660	252	0.90114	.;.;.;.	.	.	.	.	.	Uncertain significance	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	846.98	78	chr2	27216935	.	C	T	846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=783;ExcessHet=0.0000;FS=10.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.67;SOR=1.876	GT:AD:DP:GQ:PL	0/1:46,30:78:99:861,0,1214	20	0	1	0
chr2	27381614	27381616	CTT	-	exonic	PPM1G	.	nonframeshift deletion	PPM1G:NM_177983:exon10:c.1624_1626del:p.K542del,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0005	9.61e-05	0.0007	0.0005	0	0.0006	0.0022	0.0004	0.0004528	70	154602	rs756332441	0.0007	0.0007	0.0007	0.0007	0.0023	0.0006	0.0006	0.0013	0.0011	0.0004	0.0002	0.0035	0.0004	0	0.0023	0.0007	0.0010	0.0007	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0004	0.0006	0.0006	9.633e-05	0	0.0006	0.0035	0.0006	9.423e-05	0	0.0008	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1661.94	86	chr2	27381613	.	CCTT	C	1661.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=775;ExcessHet=0.0000;FS=1.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.32;ReadPosRankSum=-7.780e-01;SOR=1.007	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1676,0,1676	20	0	1	0
chr2	33309518	33309518	C	T	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon19:c.C2588T:p.P863L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.237	B	0.121	B	.	.	1.000	D	2.18	M	-2.45	D	-0.380	T	0.397	T	0.5	1.972	12.55	5.93	2.805	3.175	19.108	0.324	0.0694750036677	.	0.000199681	0.0002	9.61e-05	0	0.0003	0	5.993e-05	0	0.0008	0.0001423	22	154602	rs559471279	5.557e-05	5.609e-05	5.46e-05	5.656e-05	0.0006	4.557e-05	4.168e-05	0.0005	0.0004	6.035e-05	0	0	0.0002	0	0	1.081e-05	0.0001	0.0006	5.917e-05	5.908e-05	1.286e-05	0.0001	0.0006	3.079e-05	2.211e-05	0.0002	9.033e-05	9.638e-05	0	0	0	0.0004	0	0	0	0	0.0006	0.021	0.49117	D	0.068	0.51737	T	0.123	0.30795	B	0.077	0.32300	B	.	.	.	.	0.999993	0.58761	D	1.895	0.50365	L	-2.45	0.88847	D	-6.36	0.91912	D	0.2	0.29889	-0.3795	0.72666	T	0.397	0.74959	T	9	0.11012104	0.20569	T	0.069475	0.70738	D	0.367	0.68670	.	.	0.412688821616	0.40882	0.7357619140173515	0.73521	0.221423035678	0.24682	0.427258133888	0.28834	T	0.723768	0.92213	D	-0.172463	0.24862	T	-0.0893304	0.64212	T	0.104920141480692	0.12889	T	0.907809	0.67374	D	0.26631406	0.49702	0.3249755	0.58417	0.26631406	0.49701	0.3249755	0.58416	-8.617	0.65202	D	.	.	0.143	0.51712	B	.;.;.;.;.;.	.;.;.;.;.;.	3.754118	0.53828	23.4	0.98297827030894491	0.40011	0.90018	0.50874	D	AEFBI	0.315906	0.42035	N	0.22508512195845	0.52418	3.416017	0.222086884659178	0.51075	3.293231	0.999954695241278	0.48110	0.732398	0.92422	0	0.610034	0.51514	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	2.363000	0.43831	4.887000	0.45725	0.599000	0.40250	0.978000	0.35038	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	19.108	0.93289	854	0.34840	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	977.98	81	chr2	33309518	.	C	T	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.83;DP=788;ExcessHet=0.0000;FS=1.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-2.270e-01;SOR=0.984	GT:AD:DP:GQ:PL	0/1:43,38:81:99:992,0,912	20	0	1	0
chr2	36899646	36899646	T	A	exonic	STRN	.	nonsynonymous SNV	STRN:NM_003162:exon6:c.A672T:p.L224F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.933	P	0.397	B	0.006	N	1.000	D	1.355	L	-0.16	T	-0.841	T	0.171	T	0.324	0.722	7.840	4.73	1.054	1.787	6.318	0.124	0.0367895490537	.	.	1.147e-05	0	0	0	0	0	0	7.712e-05	6.5e-06	1	154602	rs764863602	1.373e-06	1.368e-06	1.366e-06	1.381e-06	2.343e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.343e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	0.12428	T	0.119	0.38160	T	0.823	0.52105	P	0.257	0.44399	B	0.006474	0.32011	N	0.310784	0.999935	0.51612	D	2.38	0.68558	M	-0.17	0.65563	T	-1.49	0.36385	N	0.488	0.59732	-0.8410	0.52580	T	0.171	0.51165	T	10	0.19471323	0.35294	T	0.03679	0.57211	D	0.124	0.34239	0.156	0.05964	0.310597465726	0.30670	0.048295733956614025	0.04772	0.101156769457	0.11438	0.680627346039	0.64358	T	0.054795	0.29825	T	-0.103852	0.35785	T	-0.284009	0.46392	T	0.620374858379364	0.37221	D	0.89531	0.63576	D	0.07669298	0.17361	0.078079365	0.17454	0.07669298	0.17361	0.078079365	0.17453	-5.349	0.41140	T	.	.	0.114	0.22717	B	.;.	.;.	4.147066	0.62175	24.4	0.92875785402908029	0.22422	0.94545	0.61513	D	AEFBI	0.375166	0.45980	N	0.0763823964008561	0.45364	2.794058	0.0985160993984234	0.44475	2.728501	0.951015502725609	0.27931	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.88	4.73	0.59485	2.981000	0.49019	3.505000	0.38803	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.2882:0.0:0.7118	6.318	0.20409	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	0	0	0	0	0.02381	1229.98	91	chr2	36899646	.	T	A	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.167;SOR=0.772	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1244,0,1059	20	0	1	0
chr2	43832056	43832056	G	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon3:c.C293G:p.A98G,	Sitosterolemia, Autosomal recessive	.	1	1500	21	0	0	21	0.00695134	.	.	274052	Sitosterolemia_1|Cardiovascular_phenotype|not_specified|not_provided|ABCG5-related_disorder|Hyperuricemic_nephropathy,_familial_juvenile_type_4|Sitosterolemia	MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014891,MedGen:C4310741,OMIM:617056|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.455	M	-3.47	D	1.021	D	0.908	D	0.851	5.578	35	5.37	2.510	9.049	17.669	0.871	0.385162696817	0.0017	0.00139776	0.0050	0	0.0070	0	0.0034	0.0075	0.0099	0.0040	0.0016882	261	154602	rs145164937	0.0021	0.0021	0.0021	0.0022	0.0096	0.0021	0.0021	0.0076	0.0068	0.0003	0.0027	0.0107	0	0.0013	0.0096	0.0019	0.0027	0.0038	0.0020	0.0020	0.0019	0.0021	0.0042	0.0018	0.0017	0.0034	0.0031	0.0003	0	0.0042	0.0075	0	0.0015	0.0102	0.0023	0.0038	0.0039	0.007	0.59928	D	0.018	0.59732	D	0.977	0.58535	D	0.817	0.58928	P	0.000123	0.49741	D	0.209754	1	0.81001	D	2.625	0.76847	M	-3.47	0.94546	D	-2.82	0.59545	D	0.725	0.72656	1.021	0.97547	D	0.908	0.96936	D	10	0.028946191	0.01024	T	0.385163	0.93062	D	0.871	0.96133	.	.	0.924588364626	0.92382	0.740158358082866	0.73960	0.344378291777	0.36367	0.590849280357	0.51613	T	0.697753	0.91269	D	0.123655	0.66737	D	0.401794	0.92170	D	0.0645958940440364	0.07870	T	0.973153	0.90356	D	0.7880237	0.83150	0.8408072	0.90891	0.837819	0.86454	0.7951749	0.87968	-7.88	0.60249	D	.	.	0.224	0.45581	B	.;.	.;.	5.013596	0.83272	28.0	0.9978291564879106	0.86955	0.99141	0.91831	D	AEFDBI	0.943052	0.94840	D	0.878893163385404	0.90686	10.51886	0.854146922179197	0.93256	11.92419	0.999999999994353	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.607795	0.38427	0	0.554799	0.18163	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.775000	0.81571	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:0.0:1.0:0.0	17.669	0.88115	691	0.58815	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	515.98	49	chr2	43832056	.	G	C	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.190e-01;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-8.120e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/1:26,23:49:99:530,0,644	20	0	1	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/1:2,43,0,0,0,0:45:50:1700,50,0,1706,129,1785,1706,129,1785,1785,1706,129,1785,1785,1785,1706,129,1785,1785,1785,1785	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/1:2,43,0,0,0,0:45:50:1700,50,0,1706,129,1785,1706,129,1785,1785,1706,129,1785,1785,1785,1706,129,1785,1785,1785,1785	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/1:2,43,0,0,0,0:45:50:1700,50,0,1706,129,1785,1706,129,1785,1785,1706,129,1785,1785,1785,1706,129,1785,1785,1785,1785	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/1:2,43,0,0,0,0:45:50:1700,50,0,1706,129,1785,1706,129,1785,1785,1706,129,1785,1785,1785,1706,129,1785,1785,1785,1785	0	4	5	0
chr2	86913895	86913895	C	A	exonic	RGPD2	.	nonsynonymous SNV	RGPD2:NM_001078170:exon1:c.C46A:p.Q16K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	.	.	.	.	.	.	0.994	N	.	.	1.11	T	-1.005	T	0.093	T	0.093	0.531	6.876	.	0.470	1.596	.	0.028	0.00336679468195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.03e-07	6.844e-07	0	1.416e-06	0.0003	0	0	.	.	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.23644	N	.	.	.	1.11	0.38883	T	-1.83	0.42957	N	0.296	0.33469	-1.0050	0.28457	T	0.093	0.35471	T	4	0.16553867	0.30939	T	0.003367	0.07542	T	0.028	0.06331	0.222	0.14518	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.273378	0.11383	T	-0.630465	0.10379	T	0.0899736848464801	0.11215	T	0.891611	0.62654	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16929	B	.	.	1.558338	0.19961	14.52	0.89597594922075829	0.18934	0.08130	0.14097	N	AEFBI	0.059230	0.11172	N	-0.504603209109311	0.21930	1.16747	-0.679370375984615	0.17477	0.9294917	1.23692757892015E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	1.763000	0.38090	2.759000	0.34591	.	.	1.000000	0.71638	1.000000	0.68203	.	.	.	.	.	619	0.66147	.	.	.	.	.	.	Uncertain significance	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	415.98	40	chr2	86913895	.	C	A	415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.847;DP=685;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.43;MQRankSum=-3.605e+00;QD=10.40;ReadPosRankSum=0.054;SOR=0.787	GT:AD:DP:GQ:PL	0/1:21,19:40:99:430,0,498	20	0	1	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|1:209,19:228:99:0|1:94876587_C_A:169,0,8633:94876587	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|1:240,60:300:99:0|1:94876587_C_A:1797,0,9881:94876587	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|1:263,80:343:99:0|1:94876587_C_A:2568,0,10796:94876587	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|1:297,101:398:99:0|1:94876671_A_G:3231,0,12075:94876671	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|1:299,101:400:99:0|1:94876671_A_G:3225,0,12129:94876671	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	0/1:278,75:353:99:.:.:2010,0,6955	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|1:298,59:357:99:0|1:94876737_C_A:1575,0,12185:94876737	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|1:293,59:352:99:0|1:94876737_C_A:1590,0,12021:94876737	9	0	12	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,55:205:99:.:.:1464,0,4136	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:207,29:236:99:.:.:205,0,7596	6	0	15	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:183,203:386:99:4442,0,4743	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|1:195,131:326:99:0|1:95855576_A_G:4497,0,7608:95855576	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	0/1:258,51:309:99:628,0,9806	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|1:199,107:306:99:0|1:95855576_A_G:3890,0,7813:95855576	0	0	21	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,12:83:99:.:.:290,0,2915	7	0	14	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4,	.	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,54:155:99:0|1:95859969_A_AT:1963,0,4058:95859969	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|1:101,54:155:99:0|1:95859969_A_AT:1963,0,4058:95859969	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|1:101,54:155:99:0|1:95859969_A_AT:1963,0,4058:95859969	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	0/1:107,52:159:99:1862,0,2681	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|1:104,50:154:99:0|1:95860002_T_A:1786,0,4172:95860002	1	0	20	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E,	.	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,49:153:99:0|1:95860002_T_A:1744,0,4175:95860002	1	0	20	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I,	.	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,44:145:99:0|1:95860020_G_A:1544,0,4008:95860020	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|1:101,43:144:99:0|1:95860020_G_A:1502,0,4011:95860020	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	0/1:81,33:114:99:1133,0,2053	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|1:119,43:162:99:0|1:95927222_G_GAT:1447,0,4855:95927222	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|1:127,54:181:99:0|1:95927222_G_GAT:1885,0,5158:95927222	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|1:130,70:200:99:0|1:95927222_G_GAT:2548,0,5248:95927222	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|1:171,119:290:99:0|1:95927222_G_GAT:4482,0,6822:95927222	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|1:188,166:354:99:0|1:95927222_G_GAT:6384,0,7390:95927222	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|1:196,174:370:99:0|1:95927222_G_GAT:6545,0,7541:95927222	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|1:124,78:202:99:0|1:95929092_T_C:2741,0,4950:95929092	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|1:143,93:236:99:0|1:95929092_T_C:3475,0,5725:95929092	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|1:163,109:272:99:0|1:95929092_T_C:4086,0,6516:95929092	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|1:166,116:282:99:0|1:95929092_T_C:4371,0,6621:95929092	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|1:169,122:291:99:0|1:95929092_T_C:4581,0,6680:95929092	1	0	20	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,11:128:99:1|0:97185332_A_G:110,0,4836:97185332	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|1:119,11:130:99:1|0:97185332_A_G:104,0,4964:97185332	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|1:118,11:129:99:1|0:97185332_A_G:107,0,4922:97185332	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|1:127,11:138:80:1|0:97185332_A_G:80,0,5287:97185332	3	0	18	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E,	.	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.996	D	0.981	D	.	.	1.000	N	1.04	L	2.27	T	-1.043	T	0.055	T	0.127	0.368	5.998	0.142	0.033	0.116	4.893	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	2721.84	153	chr2	97243982	.	A	G	2721.84	.	AC=10;AF=0.250;AN=40;BaseQRankSum=1.96;DP=2009;ExcessHet=6.5132;FS=12.145;InbreedingCoeff=-0.3324;MLEAC=10;MLEAF=0.250;MQ=38.40;MQRankSum=-3.421e+00;QD=1.82;ReadPosRankSum=0.177;SOR=1.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,13:153:99:0|1:97243981_C_T:124,0,5819:97243981	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|1:134,14:148:99:0|1:97243981_C_T:174,0,5584:97243981	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	0/1:150,147:297:99:.:.:4633,0,5816	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|1:157,160:317:99:0|1:97513219_T_C:6205,0,6083:97513219	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|1:177,195:372:99:0|1:97513244_G_T:7655,0,6740:97513244	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|1:178,213:391:99:0|1:97513244_G_T:8401,0,6809:97513244	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|1:176,213:389:99:0|1:97513244_G_T:8408,0,6749:97513244	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|1:178,229:407:99:0|1:97513268_C_T:9060,0,6785:97513268	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	0/1:183,227:410:99:.:.:5174,0,6939	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|1:182,231:413:99:0|1:97513268_C_T:9091,0,6908:97513268	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|1:183,228:411:99:0|1:97513268_C_T:8876,0,6899:97513268	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	0/1:116,108:224:99:2470,0,2746	0	0	20	1
chr2	99418839	99418839	G	A	exonic	REV1	.	nonsynonymous SNV	REV1:NM_001037872:exon12:c.C1937T:p.T646I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.012	B	0.001	N	0.816	D	0.97	L	-0.63	T	-0.974	T	0.166	T	0.164	1.751	11.82	0.867	-0.125	1.019	2.421	0.097	0.0256329379428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.18184	T	0.201	0.27503	T	0.002	0.09854	B	0.012	0.16012	B	0.000822	0.41547	N	0.296526	0.816365	0.34712	D	1.315	0.32790	L	-0.63	0.72011	T	-2.92	0.62151	D	0.243	0.28616	-0.9737	0.36409	T	0.166	0.50486	T	10	0.15268654	0.28836	T	0.025633	0.48589	D	0.097	0.27909	0.506	0.60078	0.373944490328	0.37009	0.509381049012957	0.50860	0.114964671949	0.12969	0.373089671135	0.21274	T	0.162433	0.50710	T	-0.0952671	0.37207	T	-0.374621	0.36350	T	0.316005289554596	0.25659	T	0.808019	0.45805	T	0.15445618	0.34959	0.106173776	0.25537	0.15445618	0.34959	0.106173776	0.25536	-7.071	0.54551	T	.	.	0.088	0.13503	B	.;.	.;.	1.595084	0.20400	14.73	0.97015040602713198	0.32002	0.86206	0.45442	D	AEFBI	0.081723	0.16540	N	-0.488862572979295	0.22446	1.198544	-0.387803611650867	0.25358	1.394132	0.81690906478528	0.24454	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.79	0.867	0.18222	1.070000	0.30265	1.067000	0.23771	0.672000	0.70159	1.000000	0.71638	0.496000	0.25178	0.984000	0.60418	0.3087:0.1177:0.4615:0.1121	2.421	0.04177	383	0.83590	.;UmuC 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	468.98	60	chr2	99418839	.	G	A	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-1.202e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/1:39,21:60:99:483,0,915	20	0	1	0
chr2	107866317	107866317	C	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon18:c.C2597T:p.P866L,	.	.	380	1141	1	0	0	1	0.00043802	.	.	2357180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.994	D	.	.	0.999	D	2.045	M	1.64	T	-0.871	T	0.157	T	0.442	0.528	6.862	2.3	1.299	5.834	11.562	0.250	0.0110365245513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1304073085	0.0009	0.0005	0.0003	0.0014	0.0076	0.0008	0.0008	0.0070	0.0067	0	0	0	0	0	0.0010	0.0001	0.0005	0.0076	8.677e-05	0.0002	4.924e-05	0.0001	0.0023	4.678e-05	3.489e-05	0.0010	0.0007	6.7e-05	0	0	0	0.0002	0	0	1.816e-05	0	0.0023	0.004	0.65419	D	0.183	0.29153	T	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	0.99912	0.46125	D	0.975	0.24501	L	1.64	0.27822	T	-6.16	0.90215	D	0.463	0.49965	-0.8710	0.50454	T	0.157	0.48976	T	9	0.08731833	0.14928	T	0.011037	0.28250	T	0.250	0.55888	0.566	0.68768	0.202949470691	0.19918	0.10854570357082648	0.10783	.	.	0.860913217068	0.91246	D	0.097203	0.39979	T	-0.406129	0.02110	T	-0.362937	0.37713	T	0.351023687143535	0.27059	T	0.975302	0.91244	D	0.39065957	0.60079	0.3718785	0.62408	0.39065957	0.60079	0.3718785	0.62408	-7.095	0.54724	T	.	.	0.333	0.55431	B	.	.	4.171052	0.62719	24.5	0.92484815088312411	0.21917	0.89126	0.49406	D	AEFI	0.601940	0.59399	D	0.357740105726279	0.59150	4.092027	0.228603457767364	0.51441	3.326538	0.00477057778156677	0.10704	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	5.956000	0.70034	6.010000	0.52630	0.253000	0.18341	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	11.562	0.50036	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	140.01	21	chr2	107866317	.	C	T	140.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=341;ExcessHet=0.0000;FS=4.876;InbreedingCoeff=-0.0265;MLEAC=1;MLEAF=0.024;MQ=24.43;MQRankSum=0.038;QD=6.67;ReadPosRankSum=0.072;SOR=0.132	GT:AD:DP:GQ:PL	0/1:13,8:21:99:154,0,304	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|2:0,100,101:201:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:7163,4234,3934,3165,0,3958:108259008	3	5	3	0
chr2	119245618	119245618	G	A	exonic	STEAP3	.	nonsynonymous SNV	STEAP3:NM_001008410:exon2:c.G122A:p.R41H	.	.	419	1100	3	0	0	3	0.00136178	.	.	2376361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	N	1.000	D	2.445	M	0.92	T	-0.697	T	0.237	T	0.776	4.547	24.6	3.15	0.679	5.511	10.478	0.311	0.0226005728151	.	0.000199681	6.638e-05	0	0	0	0	4.535e-05	0	0.0003	6.47e-05	10	154602	rs200164081	6.794e-05	7.046e-05	6.136e-05	7.461e-05	0.0003	5.688e-05	5.278e-05	0.0002	0.0002	8.987e-05	4.478e-05	0	7.586e-05	0	0	4.693e-05	0.0002	0.0003	6.564e-05	6.561e-05	3.853e-05	9.396e-05	0.0010	3.513e-05	2.614e-05	0.0004	0.0003	0	0	0	0	0.0004	0	0	4.41e-05	0	0.0010	0.014	0.53172	D	0.033	0.54541	D	1.0	0.90584	D	0.996	0.92359	D	0.000369	0.45194	N	0.196194	0.99988	0.54805	D	2.765	0.80766	M	0.92	0.44461	T	-3.57	0.71519	D	0.605	0.62273	-0.6973	0.60567	T	0.237	0.60475	T	9	0.39606678	0.55235	T	0.022601	0.45504	T	0.311	0.63269	.	.	0.572452295634	0.56912	0.7944303491786253	0.79396	0.741994381372	0.63314	0.515383183956	0.40977	T	0.265812	0.63770	T	-0.120893	0.32977	T	-0.100913	0.63327	T	0.832383692264557	0.48716	D	0.828817	0.49341	T	0.57771057	0.71483	0.30156356	0.56188	0.57771057	0.71484	0.30156356	0.56187	-7.179	0.55330	T	.	.	0.184	0.39798	B	.;.;.;.	.;.;.;.	5.083535	0.84853	28.4	0.99950569384876231	0.99944	0.96643	0.70176	D	AEFDBI	0.794035	0.72186	D	0.545023947813714	0.69778	5.405776	0.46924638369827	0.65962	4.890548	0.999969493769875	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.96	3.15	0.35301	5.869000	0.69363	7.473000	0.59173	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1575:0.0:0.8425:0.0	10.478	0.43860	938	0.14419	.;Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, 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	1	0	0	0	0	0	0	0.02381	930.98	97	chr2	119245618	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=795;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=1.17;SOR=0.568	GT:AD:DP:GQ:PL	0/1:60,37:97:99:945,0,1443	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	0/1:132,96,0:228:99:.:.:2269,0,3432,2664,3720,6384	4	10	6	0
chr2	130142226	130142226	G	A	exonic	CCDC74B	.	nonsynonymous SNV	CCDC74B:NM_207310:exon3:c.C451T:p.R151C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.931	P	0.129	B	.	.	1.000	N	0.695	N	1.62	T	-1.061	T	0.027	T	0.387	2.320	13.71	-5.33	-1.871	-1.098	0.859	0.002	0.000781837765882	.	.	1.627e-05	0	0	0	0	2.814e-05	0	0	3.84e-05	1	26028	rs767858668	5.736e-06	1.163e-05	4.255e-06	7.25e-06	9.843e-05	2.47e-06	1.78e-06	2.607e-05	1.422e-05	9.843e-05	0	0.0001	2.72e-05	0	0	9.276e-07	0	0	1.982e-05	3.286e-05	1.29e-05	2.706e-05	4.851e-05	5.27e-06	2.46e-06	8.04e-06	3.01e-06	4.851e-05	0	0	0.0003	0	0	0	0	0	0	0.061	0.37118	T	0.002	0.79402	D	0.931	0.51899	P	0.129	0.32841	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.62	0.28189	T	-1.17	0.29933	N	0.095	0.07535	-1.0614	0.11410	T	0.027	0.11485	T	9	0.08779967	0.15056	T	7.82E-4	0.00588	T	0.110	0.31079	.	.	0.298056030225	0.29408	0.14925698521263564	0.14847	1.91785441749	0.92971	.	.	.	0.004074	0.03483	T	-0.215395	0.18625	T	-0.547176	0.17597	T	0.0851354370875186	0.10630	T	0.641436	0.25361	T	0.03612434	0.04384	0.034596767	0.02555	0.03612434	0.04384	0.034596767	0.02555	-4.986	0.36687	T	.	.	0.086	0.13737	B	.;.	.;.	0.320738	0.06954	3.500	0.99200589903121272	0.55261	0.01520	0.05015	N	AEFBCI	0.093827	0.18980	N	-1.07761161426384	0.07058	0.3267327	-1.31638975533021	0.04218	0.1984944	0.00111702828578667	0.08239	0.615465	0.37627	0	0.633656	0.55848	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	2.66	-5.33	0.02503	-0.971000	0.03916	.	.	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.222:0.2929:0.309:0.1761	0.859	0.01113	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	3758.98	183	chr2	130142226	.	G	A	3758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.887e+00;DP=1133;ExcessHet=0.0000;FS=13.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.57;MQRankSum=9.97;QD=20.54;ReadPosRankSum=-3.210e-01;SOR=0.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,139:183:99:0|1:130142226_G_A:3773,0,1354:130142226	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	0/1:17,20,2,0:39:99:427,0,365,414,417,991,473,456,948,977	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	0/1:17,20,2,0:39:99:427,0,365,414,417,991,473,456,948,977	1	6	10	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.502	24.2	5.82	2.764	6.476	18.870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	547.01	131	chr2	151680729	.	C	T	547.01	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.151e+00;DP=1823;ExcessHet=0.6776;FS=116.428;InbreedingCoeff=-0.1070;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.23;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,25:131:99:.:.:134,0,1948	17	0	4	0
chr2	151812356	151812356	C	G	splicing	ARL5A	NM_001037174:exon4:c.228+1G>C;NM_012097:exon4:c.339+1G>C;NM_177985:exon4:c.228+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.426	23.5	4.68	2.153	7.818	17.586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	5.886e-05	4.157e-06	1.396e-06	3.642e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.642e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439775	0.92012	D	0.39393	0.91914	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.231749	0.96294	35	0.99502293485953874	0.68089	0.99595	0.97811	D	AEFGBI	.	.	.	1.08373552501254	0.97822	16.83379	0.914098951252691	0.96157	14.36763	0.999999999922868	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.125526	0.03468	0	0.221052	0.04502	0	0.980099	0.85116	4.68	4.68	0.58319	7.892000	0.85858	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.586	0.87881	815	0.41851	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	31.83	19	chr2	151812356	.	C	G	31.83	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.340e-01;DP=495;ExcessHet=0.1190;FS=282.926;InbreedingCoeff=0.0517;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.386;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,8:19:26:.:.:26,0,145	16	0	2	3
chr2	156550607	156550607	G	A	exonic	GPD2	.	nonsynonymous SNV	GPD2:NM_000408:exon8:c.G832A:p.E278K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.021	B	0.000	D	1.000	D	1.795	L	-1.46	T	-0.360	T	0.464	T	0.493	4.212	21.9	5.81	2.743	6.604	20.070	0.383	0.0722482262432	.	.	8.241e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs746974136	6.157e-06	6.156e-06	2.723e-06	9.627e-06	9.275e-05	2.9e-06	2.1e-06	4.579e-05	3.272e-05	0	0	0	0	0	0	0	1.656e-05	9.275e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.024	0.47745	D	0.132	0.37589	T	0.0	0.02946	B	0.021	0.19346	B	0.000001	0.84330	D	0.103590	1	0.81001	D	2.025	0.55430	M	-1.46	0.80983	T	-2.84	0.61722	D	0.669	0.68863	-0.3596	0.73275	T	0.464	0.79246	T	10	0.60391337	0.67066	D	0.072248	0.71483	D	0.383	0.70029	0.54	0.65161	0.81848862413	0.81678	0.780974409754872	0.78048	0.520087814478	0.49816	0.815068483353	0.84270	D	0.635465	0.88755	D	0.0179496	0.54105	T	-0.115139	0.62199	T	0.88019859790802	0.53019	D	0.984102	0.97198	D	0.48165542	0.66001	0.38793728	0.63650	0.48165542	0.66001	0.38793728	0.63649	-10.581	0.77311	D	.	.	0.237	0.47027	B	.;.;.;.;.	.;.;.;.;.	4.915134	0.80898	27.4	0.99879309811209571	0.95572	0.98103	0.79624	D	AEFBI	0.808201	0.73204	D	0.213402433692973	0.51847	3.362987	0.392957301895997	0.61131	4.308936	0.99999984128952	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	6.723000	0.74552	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.070	0.97717	835	0.38313	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	684.98	63	chr2	156550607	.	G	A	684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=764;ExcessHet=0.0000;FS=2.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=1.20;SOR=1.013	GT:AD:DP:GQ:PL	0/1:36,27:63:99:699,0,911	20	0	1	0
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	.	6	1446	65	5	0	75	0.0252781	.	.	250305	not_specified|not_provided|Progressive_myositis_ossificans	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.016	B	0.007	B	0.219	N	0.908	D	0.55	N	-0.81	T	-0.083	T	0.528	D	0.325	2.808	15.35	5.84	2.760	3.258	17.649	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.09524	2734.92	86	chr2	157799450	.	G	C	2734.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.470e-01;DP=959;ExcessHet=0.6776;FS=0.423;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.267;SOR=0.647	GT:AD:DP:GQ:PL	0/1:46,40:86:99:833,0,1158	17	0	4	0
chr2	166441505	166441505	C	T	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon15:c.G2048A:p.R683Q,	.	.	12	1470	39	1	0	41	0.0137538	.	.	99990	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.125	L	-4.29	D	1.026	D	0.910	D	0.752	4.350	22.9	4.79	2.650	7.651	15.709	0.787	.	0.0031	0.00638978	0.0056	0.0007	0.0029	0	0	0.0039	0.0067	0.0224	0.0050517	781	154602	rs116825611	0.0037	0.0037	0.0031	0.0043	0.0206	0.0036	0.0036	0.0198	0.0195	0.0004	0.0023	0.0236	2.521e-05	0.0003	0.0115	0.0023	0.0045	0.0206	0.0026	0.0026	0.0027	0.0025	0.0203	0.0024	0.0023	0.0171	0.0159	0.0006	0	0.0012	0.0219	0	0.0002	0.0136	0.0024	0.0062	0.0203	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000110	0.50451	D	0.000000	0.999701	0.48408	D	1.595	0.40691	L	-4.29	0.97149	D	-3.94	0.73378	D	0.711	0.74462	1.026	0.97642	D	0.910	0.97012	D	10	0.013575166	0.00288	T	.	.	.	0.787	0.92948	.	.	0.986878801639	0.98673	0.7030954503724556	0.70250	0.271094702539	0.29633	0.438645839691	0.30392	T	0.738384	0.93955	D	0.0152406	0.53738	T	0.265372	0.86346	D	0.0222640236973209	0.00939	T	0.993421	0.97849	D	0.8230196	0.85424	0.73580307	0.84385	0.8230196	0.85425	0.73580307	0.84386	-7.754	0.59382	D	.	.	0.213	0.44501	B	.;.;.;.;.;.	.;.;.;.;.;.	4.937178	0.81443	27.6	0.99955698526693537	0.99975	0.98705	0.85807	D	AEFDI	0.951883	0.96684	D	0.589331314128678	0.72507	5.816814	0.554543455063248	0.71714	5.697109	0.999993935172976	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.79	4.79	0.60909	7.905000	0.86479	7.651000	0.63703	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	15.709	0.77370	539	0.73055	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1906.98	188	chr2	166441505	.	C	T	1906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.959;DP=887;ExcessHet=0.0000;FS=2.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-2.930e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:111,77:188:99:1921,0,2787	20	0	1	0
chr2	169510176	169510176	G	A	exonic	KLHL41	.	nonsynonymous SNV	KLHL41:NM_006063:exon1:c.G398A:p.G133D,	Nemaline myopathy 9, Autosomal recessive	.	425	1071	24	2	0	28	0.0129032	.	.	449248	KLHL41-related_disorder|not_provided|Nemaline_myopathy_9	.|MedGen:C3661900|MONDO:MONDO:0014326,MedGen:C3810384,OMIM:615731	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.57	P	0.269	B	0.001	N	0.864	N	0.575	N	-0.44	T	-0.914	T	0.123	T	0.376	1.395	10.60	4.29	1.170	2.859	9.162	0.108	.	0.0010	0.00339457	0.0022	0	0.0007	0	0.0002	0.0019	0.0044	0.0077	0.0020246	313	154602	rs147294651	0.0018	0.0018	0.0016	0.0020	0.0177	0.0017	0.0017	0.0149	0.0139	0.0004	0.0014	0.0027	2.519e-05	0.0001	0.0177	0.0014	0.0022	0.0084	0.0014	0.0014	0.0012	0.0016	0.0087	0.0012	0.0012	0.0066	0.0059	0.0001	0	0.0010	0.0026	0	0.0006	0.0204	0.0019	0.0014	0.0087	0.328	0.13219	T	0.049	0.48336	D	0.57	0.38545	P	0.269	0.39840	B	0.001129	0.40136	N	0.282731	0.864202	0.35443	D	-0.115	0.04602	N	-0.44	0.69777	T	-1.52	0.36980	N	0.544	0.57092	-0.9138	0.46377	T	0.123	0.42652	T	10	0.012224913	0.00264	T	.	.	.	0.108	0.30607	.	.	0.76546513758	0.76332	0.6215415802752295	0.62087	0.516048157862	0.49500	0.800296068192	0.82008	T	0.031423	0.22034	T	-0.38467	0.02910	T	-0.32006	0.42569	T	0.0228318363537008	0.01004	T	0.929107	0.73907	D	0.1282095	0.29981	0.15476534	0.36309	0.1282095	0.29981	0.15476534	0.36308	-3.502	0.16459	T	0.1828885386803012	0.23650	0.321	0.54580	B	.	.	4.184911	0.63024	24.5	0.97243665634822019	0.33006	0.71690	0.35122	D	AEFDGBI	0.129939	0.24831	N	0.0396674882017644	0.43668	2.655295	0.148009009140575	0.47035	2.940027	0.999994931632562	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.17	4.29	0.50359	2.933000	0.48641	9.937000	0.82626	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.996000	0.76049	0.0777:0.1468:0.7755:0.0	9.162	0.36191	870	0.31527	.	.	.	.	.	.	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	3472.98	233	chr2	169510176	.	G	A	3472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=924;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=-5.910e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:103,130:233:99:3487,0,2425	20	0	1	0
chr2	178576568	178576568	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon153:c.A42481G:p.S14161G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1468	51	3	0	57	0.0190444	.	.	56440	not_specified|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Familial_dilated_cardiomyopathy_and_peripheral_neuropathy|Ventricular_tachycardia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|TTN-related_disorder|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|.|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|.|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.992	D	.	.	1.000	D	2.955	M	-0.51	T	0.109	D	0.478	T	0.312	1.899	12.31	4.57	1.105	6.240	11.877	0.566	.	0.0066	0.00299521	0.0075	0.0014	0.0047	0	0.0018	0.0095	0.0111	0.0110	0.0073091	1130	154602	rs72646885	0.0072	0.0072	0.0069	0.0075	0.0170	0.0070	0.0070	0.0143	0.0133	0.0015	0.0048	0.0314	0	0.0029	0.0170	0.0068	0.0092	0.0116	0.0057	0.0057	0.0061	0.0054	0.0087	0.0054	0.0053	0.0074	0.0072	0.0013	0	0.0044	0.0331	0	0.0021	0.0306	0.0080	0.0095	0.0087	0.008	0.91255	D	.	.	.	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.999978	0.58761	D	3.555	0.93317	H	-0.51	0.70597	T	-2.99	0.64710	D	0.441	0.67650	0.109	0.84332	D	0.478	0.80037	T	9	0.004576355	0.00095	T	.	.	.	0.566	0.82289	.	.	0.376039117802	0.37211	.	.	0.443632335628	0.44285	0.520653069019	0.41718	T	.	.	.	-0.274401	0.11271	T	-0.156547	0.58661	T	0.0732738689586987	0.09103	T	0.791621	0.43272	T	.	.	.	.	.	.	.	.	-10.119	0.74621	D	.	.	0.368	0.57720	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.495148	0.70253	25.5	0.83750850580813474	0.14899	0.97136	0.72900	D	AEFBI	0.888384	0.82145	D	0.649867181465855	0.76361	6.472145	0.554012187497778	0.71676	5.691424	0.99518412355579	0.33994	0.553676	0.25195	0	0.601575	0.49859	0	0.463624	0.06942	0	0.620846	0.47308	0	.	.	5.72	4.57	0.55860	7.969000	0.87564	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0682:0.0:0.9317	11.877	0.51835	432	0.80690	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	5291.11	223	chr2	178576568	.	T	C	5291.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.934e+00;DP=1543;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=-8.430e-01;SOR=0.687	GT:AD:DP:GQ:PL	0/1:112,111:223:99:2612,0,2978	19	0	2	0
chr2	178617362	178617362	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon82:c.G20528A:p.R6843H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1469	47	3	2	55	0.0177198	.	.	56180	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy|Cardiomyopathy|Ventricular_tachycardia|Dilated_cardiomyopathy_1G|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiovascular_phenotype|TTN-related_disorder|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|.|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.15	M	0.48	T	-0.422	T	0.293	T	0.448	2.908	15.69	5.93	2.808	7.770	20.351	0.368	.	0.0066	0.00299521	0.0113	0.0025	0.0103	0	0.0025	0.0146	0.0181	0.0142	0.0064359	995	154602	rs72677237	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0016	0.0051	0.0263	0	0.0027	0.0144	0.0062	0.0084	0.0110	0.0054	0.0054	0.0056	0.0051	0.0081	0.0051	0.0049	0.0070	0.0067	0.0014	0	0.0044	0.0274	0	0.0019	0.0306	0.0075	0.0090	0.0081	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.44	0.70756	M	0.48	0.55945	T	-3.24	0.67477	D	0.433	0.72388	-0.4221	0.71323	T	0.293	0.66422	T	9	0.008752823	0.00198	T	.	.	.	0.368	0.68757	.	.	0.426551566703	0.42274	.	.	0.515550123524	0.49465	0.441975414753	0.30847	T	.	.	.	-0.309716	0.07773	T	-0.208267	0.53860	T	0.0243475309348374	0.01188	T	0.923708	0.72722	D	.	.	.	.	.	.	.	.	-7.748	0.60380	D	.	.	0.275	0.50889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.806982	0.54888	23.5	0.95521441007536012	0.27141	0.98638	0.84997	D	AEFBI	0.928340	0.91241	D	0.892802544777714	0.91401	10.866	0.888614442682798	0.95058	13.27328	0.999999999999994	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.93	5.93	0.95888	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.351	0.98814	424	0.81215	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3021.11	131	chr2	178617362	.	C	T	3021.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.937;DP=952;ExcessHet=0.1072;FS=0.431;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.435;SOR=0.749	GT:AD:DP:GQ:PL	0/1:77,54:131:99:1247,0,1874	19	0	2	0
chr2	178777862	178777862	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon24:c.G4184C:p.R1395P	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1451	68	3	0	74	0.0248656	.	.	56211	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|not_specified|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	1.655	L	0.24	T	-0.403	T	0.249	T	0.767	3.188	16.67	5.45	2.723	7.584	19.254	0.459	.	0.0058	0.0103834	0.0111	0.0012	0.0060	0.0088	0.0180	0.0116	0.0132	0.0174	0.010375	1604	154602	rs72647876	0.0097	0.0097	0.0093	0.0100	0.0171	0.0095	0.0095	0.0163	0.0160	0.0014	0.0081	0.0081	0.0042	0.0183	0.0137	0.0092	0.0102	0.0171	0.0084	0.0085	0.0071	0.0098	0.0162	0.0080	0.0079	0.0137	0.0131	0.0013	0	0.0153	0.0089	0.0102	0.0200	0.0102	0.0087	0.0114	0.0162	0.095	0.54683	T	0.005	0.72224	D	1.0	0.90584	D	0.997	0.97372	D	.	.	.	.	0.999288	0.58761	D	.	.	.	-0.14	0.65006	T	-4.19	0.85844	D	0.188	0.76760	-0.4030	0.71932	T	0.249	0.61855	T	9	0.008319944	0.00189	T	.	.	.	0.459	0.75687	.	.	.	.	.	.	0.552916037637	0.52078	0.748514950275	0.74228	T	.	.	.	-0.158262	0.27029	T	0.0135168	0.71209	D	0.0142363712654734	0.00281	T	0.940956	0.82493	D	.	.	.	.	.	.	.	.	-8.108	0.61805	D	.	.	0.515	0.65265	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.006971	0.59081	24.1	0.95907815994375256	0.28150	0.98680	0.85501	D	AEFGBI	0.981315	0.99870	D	0.803908257609293	0.86349	8.857237	0.804679695527492	0.90117	10.26354	0.999999999999429	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.45	5.45	0.79688	7.669000	0.82880	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.254	0.93927	346	0.85643	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.09524	7570.92	151	chr2	178777862	.	C	G	7570.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.68;DP=1317;ExcessHet=0.6776;FS=1.104;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-4.120e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:97,54:151:99:1215,0,2277	17	0	4	0
chr2	185809103	185809103	G	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.G19797C:p.K6599N,	.	.	428	1042	49	3	0	55	0.0257129	.	.	3199559	FSIP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.806	N	1.000	N	1.04	L	0.73	T	-0.982	T	0.068	T	0.093	3.021	16.08	-1.78	-0.324	-0.789	4.555	0.014	.	0.0073	0.00678914	0.0116	0.0016	0.0042	0.0002	0.0166	0.0124	0.0173	0.0272	0.0103815	1605	154602	rs116639972	0.0093	0.0092	0.0088	0.0098	0.0225	0.0092	0.0091	0.0216	0.0213	0.0013	0.0045	0.0046	5.079e-05	0.0181	0.0168	0.0087	0.0090	0.0225	0.0075	0.0075	0.0070	0.0081	0.0249	0.0072	0.0070	0.0212	0.0199	0.0015	0	0.0041	0.0063	0.0002	0.0138	0.0102	0.0105	0.0076	0.0249	0.023	0.48186	D	0.067	0.44302	T	.	.	.	.	.	.	0.806472	0.09284	N	0.911688	1	0.08975	N	1.845	0.48678	L	0.73	0.50721	T	-2.68	0.57275	D	0.129	0.12341	-0.9822	0.34491	T	0.068	0.27879	T	8	0.0036090612	0.00065	T	.	.	.	0.014	0.01968	.	.	.	.	0.0519133847101251	0.05133	.	.	0.26068842411	0.04973	T	0.05467	0.29791	T	-0.613095	0.00121	T	-0.635191	0.10024	T	0.022243021460658	0.00936	T	0.653235	0.26349	T	0.15171036	0.34474	0.12621611	0.30401	0.15171036	0.34474	0.12621611	0.30400	-3.901	0.22318	T	.	.	0.319	0.54463	B	.	.	0.746859	0.11166	7.803	0.99714873155108819	0.81633	0.03258	0.08289	N	AEFI	.	.	.	-0.588860956506698	0.19282	1.007925	-0.710675363931795	0.16695	0.884392	1.7529838628638E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-1.78	0.07527	-0.771000	0.04805	-0.560000	0.08482	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.378000	0.26290	0.5388:0.0:0.3047:0.1566	4.555	0.11531	756	0.51065	Fibrous sheath-interacting protein 2, C-terminal	RP11-410E4.1	Brain_Hypothalamus	.	.	.	Likely benign	0	0	0	0	0	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	1364.98	114	chr2	185809103	.	G	C	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.529e+00;DP=918;ExcessHet=0.0000;FS=3.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.397;SOR=0.434	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1379,0,1409	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,16,0:47:48:.:.:48,0,444,132,485,617	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,16,0:47:48:.:.:48,0,444,132,485,617	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	0/1:56,40:96:99:354,0,890	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	0/3:17,2,5,6:30:18:105,144,602,18,337,362,0,373,323,542	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	0/3:17,2,5,6:30:18:105,144,602,18,337,362,0,373,323,542	2	0	4	0
chr2	200569725	200569725	A	G	exonic	SGO2	.	nonsynonymous SNV	SGO2:NM_001160033:exon6:c.A536G:p.N179S	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.049	B	0.019	B	0.336	N	1.000	N	0.55	N	1.79	T	-1.044	T	0.031	T	0.014	0.189	5.015	-1.68	-0.465	-0.310	0.663	0.026	0.00205132467033	.	.	1.667e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760105961	7.53e-06	7.524e-06	5.449e-06	9.632e-06	0.0002	4.04e-06	2.95e-06	1.584e-05	9.31e-06	0	0	0	0	0	0.0002	2.699e-06	4.972e-05	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.08660	T	0.728	0.05203	T	0.001	0.11197	B	0.002	0.08700	B	0.336360	0.04161	N	1.393200	1	0.08975	N	.	.	.	1.79	0.25509	T	-0.35	0.26843	N	0.03	0.00717	-1.0442	0.16059	T	0.031	0.13199	T	10	0.028880179	0.01017	T	0.002051	0.03748	T	0.026	0.05648	0.143	0.04650	0.0884992946249	0.08302	0.03937806648231291	0.03883	0.0529373358897	0.05834	0.288933396339	0.08767	T	0.026044	0.19354	T	-0.495955	0.00602	T	-0.768654	0.02813	T	0.0247475684677064	0.01239	T	0.517648	0.16760	T	0.012529449	0.00036	0.014389908	0.00002	0.012529449	0.00036	0.014389908	0.00002	-3.112	0.11434	T	.	.	0.089	0.11989	B	.;.	.;.	-0.008207	0.04225	1.038	0.37544682420955966	0.02480	0.00791	0.03234	N	AEFGBI	0.027911	0.02363	N	-1.18754700028729	0.05188	0.2358974	-1.21808295072388	0.05619	0.2682484	8.06192140882195E-5	0.04552	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.76	-1.68	0.07773	-0.309000	0.08185	-0.168000	0.11254	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.831000	0.39176	0.366:0.1812:0.2833:0.1694	0.663	0.00793	683	0.59664	.;.	.	.	.	.	.	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	1813.98	170	chr2	200569725	.	A	G	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.612e+00;DP=862;ExcessHet=0.0000;FS=1.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=1.21;SOR=0.807	GT:AD:DP:GQ:PL	0/1:87,83:170:99:1828,0,2108	20	0	1	0
chr2	206305194	206305194	C	A	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C666A:p.N222K	.	.	432	1061	27	2	0	31	0.0143985	.	.	2109272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.447	B	0.146	B	0.027	N	1.000	N	1.5	L	2.34	T	-1.016	T	0.029	T	0.137	4.129	21.3	2.23	0.153	0.774	1.398	0.037	0.0115230301471	0.0002	0.00159744	0.0017	0.0001	0.0022	0	0	0.0006	0.0034	0.0084	0.0014942	231	154602	rs200044367	0.0009	0.0009	0.0006	0.0012	0.0094	0.0009	0.0008	0.0088	0.0086	5.974e-05	0.0010	0.0013	5.038e-05	1.873e-05	0.0080	0.0003	0.0011	0.0094	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0004	0.0052	0.0045	2.405e-05	0	0.0010	0.0009	0.0002	0	0.0068	0.0004	0.0009	0.0070	0.023	0.48186	D	0.158	0.31629	T	0.447	0.36006	B	0.146	0.33945	B	0.027166	0.25800	N	0.188694	1	0.08975	N	1.75	0.45442	L	2.34	0.16351	T	-3.28	0.65627	D	0.327	0.37197	-1.0159	0.25045	T	0.029	0.12278	T	10	0.0061847568	0.00139	T	0.011523	0.29227	T	0.037	0.09474	0.177	0.08379	0.194818534648	0.19098	0.08912010333343588	0.08845	0.162359928004	0.18315	0.281682133675	0.07728	T	0.049049	0.39302	T	-0.6015	0.00143	T	-0.630675	0.10364	T	0.0336020536051496	0.02571	T	.	.	.	0.13841118	0.32012	0.12605263	0.30363	0.13841118	0.32012	0.12605263	0.30362	-2.662	0.06989	T	.	.	0.216	0.47816	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.613284	0.20610	14.83	0.99684880871400117	0.79507	0.42900	0.26980	N	AEFBI	0.062519	0.12022	N	-0.231030919698507	0.31868	1.791223	-0.199562780340314	0.31554	1.78676	0.00761789160899349	0.11507	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.11	2.23	0.27189	-0.024000	0.12382	0.521000	0.19165	0.599000	0.40250	0.004000	0.16614	0.805000	0.26985	0.961000	0.51904	0.308:0.3827:0.1422:0.167	1.398	0.02128	885	0.28214	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3987.11	193	chr2	206305194	.	C	A	3987.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.39;DP=1806;ExcessHet=0.1072;FS=1.810;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-5.960e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:90,103:193:99:2740,0,2316	19	0	2	0
chr2	218644478	218644478	C	T	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon7:c.G2038A:p.G680S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.361	B	0.068	B	0.226	N	1.000	N	0	N	2.82	T	-0.976	T	0.012	T	0.14	0.147	4.789	4.11	1.300	0.795	9.684	0.049	0.00447290654634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	0.03317	T	0.83	0.03717	T	0.361	0.33905	B	0.068	0.27651	B	0.225939	0.16029	N	0.607960	1	0.08975	N	0	0.06538	N	2.82	0.10871	T	0.32	0.03955	N	0.117	0.10626	-0.9758	0.35948	T	0.012	0.04700	T	10	0.05173856	0.05101	T	0.004473	0.10969	T	0.049	0.13647	0.369	0.37850	0.259761712551	0.25597	0.11290686624604603	0.11218	0.145081945757	0.16401	0.341643959284	0.16684	T	0.003258	0.02667	T	-0.285194	0.10125	T	-0.647438	0.09135	T	0.154248937513497	0.17437	T	0.522448	0.17034	T	0.057685655	0.11511	0.057406493	0.10430	0.057685655	0.11511	0.057406493	0.10430	-3.656	0.18671	T	.	.	0.087	0.13127	B	.;.	.;.	0.902896	0.12768	9.287	0.79746610833137355	0.12882	0.43679	0.27151	N	AEFBCI	0.097322	0.19631	N	-0.709455037961579	0.15755	0.7968017	-0.614986628331637	0.19109	1.023769	0.97079511507631	0.29235	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.662433	0.64102	0	.	.	5.01	4.11	0.47350	1.870000	0.39166	0.849000	0.22120	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.723000	0.34869	0.1592:0.6872:0.1535:0.0	9.684	0.39250	917	0.20147	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1381.98	85	chr2	218644478	.	C	T	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=1569;ExcessHet=0.0000;FS=7.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=-5.690e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1396,0,864	20	0	1	0
chr2	219302220	219302220	C	T	exonic	PTPRN	.	nonsynonymous SNV	PTPRN:NM_001199763:exon6:c.G911A:p.R304Q	.	.	.	.	.	.	.	.	.	.	.	3314881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.008	B	0.001	B	0.639	N	1.000	N	0.345	N	3.92	T	-0.923	T	0.006	T	0.074	0.099	4.533	-8.89	-1.852	-1.293	7.356	0.032	0.0146353299947	.	.	9.091e-05	0	0.0002	0	0	4.509e-05	0.0011	0.0003	7.12e-05	11	154602	rs774557351	6.088e-05	6.088e-05	5.581e-05	6.601e-05	0.0003	5.028e-05	4.672e-05	0.0001	8.646e-05	2.987e-05	6.709e-05	7.656e-05	0.0002	0	0.0003	4.856e-05	8.279e-05	0.0002	3.286e-05	3.283e-05	3.854e-05	2.69e-05	6.54e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.54e-05	0	0	0	0	5.881e-05	0	0	0.297	0.15613	T	0.547	0.09522	T	0.003	0.11197	B	0.0	0.01387	B	0.638829	0.05855	N	1.210680	0.999965	0.18878	N	-0.145	0.04423	N	3.89	0.03544	T	0.62	0.02442	N	0.18	0.19459	-0.9229	0.45155	T	0.006	0.02093	T	10	0.03351745	0.01530	T	0.014635	0.34889	T	0.032	0.07718	0.346	0.34112	0.139678290688	0.13603	0.2427766035522714	0.24191	0.111870884816	0.12619	0.239109739661	0.02711	T	0.082763	0.36902	T	-0.614112	0.00120	T	-0.823713	0.01379	T	0.0339022413289741	0.02621	T	0.720328	0.33319	T	0.024251912	0.01238	0.038621854	0.03770	0.024251912	0.01238	0.038621854	0.03770	-3.472	0.17828	T	.	.	0.069	0.03060	B	.;.;.	.;.;.	-0.860915	0.00993	0.040	0.72563453015034041	0.10017	0.00855	0.03408	N	AEFDBI	0.077847	0.15692	N	-1.71057986504272	0.00805	0.03478663	-1.77738491330118	0.00834	0.03726689	0.999998562269462	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.58	-8.89	0.00676	-1.429000	0.02543	-6.666000	0.01337	-1.719000	0.00732	0.027000	0.20232	0.000000	0.08366	0.028000	0.12845	0.0:0.2975:0.1961:0.5063	7.356	0.25892	140	0.94439	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	873.98	74	chr2	219302220	.	C	T	873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.222;SOR=0.614	GT:AD:DP:GQ:PL	0/1:39,35:74:99:888,0,960	20	0	1	0
chr2	219570278	219570278	A	C	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon1:c.T955G:p.C319G	3-M syndrome 2	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.823	P	.	.	1.000	D	4.145	H	-0.89	T	0.659	D	0.671	D	0.874	4.413	23.4	4.8	2.014	9.047	14.485	0.832	0.407863586639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212505179	5.51e-06	5.472e-06	4.102e-06	6.939e-06	0.0002	2.37e-06	1.71e-06	1.95e-06	1.28e-06	0	0	0	0	0	0.0002	5.429e-06	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.0	0.92824	D	0.786	0.66517	P	0.685	0.59197	P	.	.	.	.	1	0.81001	D	4.505	0.98992	H	-0.89	0.74793	T	-10.88	0.99356	D	0.791	0.95021	0.659	0.92664	D	0.671	0.88602	D	9	0.9796363	0.97896	D	0.407864	0.93535	D	0.832	0.94691	0.896	0.97596	0.962490328904	0.96209	0.9348046315734622	0.93460	0.755948700181	0.64012	0.863857328892	0.91678	D	0.433086	0.78064	T	0.289687	0.82131	D	0.278969	0.87069	D	0.999207556247711	0.96535	D	0.810419	0.46176	T	0.9140608	0.92677	0.79567474	0.87999	0.9140608	0.92678	0.79567474	0.88000	-9.057	0.68178	D	.	.	0.980	0.92404	P	.;.;.;.	.;.;.;.	4.763278	0.77037	26.6	0.97540870562974336	0.34512	0.95874	0.66525	D	AEFDGBHCI	0.977395	0.99720	D	0.821399678826651	0.87425	9.213507	0.725700905401955	0.84330	8.261989	0.99999999999986	0.74766	0.627647	0.40530	0	0.563428	0.19063	0	0.672317	0.60874	0	0.56751	0.32155	0	.	.	4.8	4.8	0.61157	9.293000	0.95144	11.211000	0.89399	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	1.0:0.0:0.0:0.0	14.485	0.67194	116	0.95299	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2035.98	136	chr2	219570278	.	A	C	2035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.367;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.97;ReadPosRankSum=-9.070e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:56,80:136:99:2050,0,1320	20	0	1	0
chr2	219609402	219609402	C	T	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon17:c.C1966T:p.R656W,	.	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.555	P	0.369	N	1.000	N	0.69	N	3.42	T	-0.972	T	0.019	T	0.161	2.843	15.47	0.72	0.280	-0.296	6.992	0.088	0.0103774389607	0.0003	0.00139776	0.0010	0	0.0008	0	0	0.0006	0	0.0042	0.0008667	134	154602	rs138178069	0.0006	0.0006	0.0005	0.0007	0.0078	0.0006	0.0006	0.0060	0.0054	0.0003	0.0010	0.0013	2.519e-05	3.757e-05	0.0078	0.0003	0.0011	0.0036	0.0006	0.0006	0.0005	0.0007	0.0035	0.0005	0.0004	0.0022	0.0018	0.0001	0	0.0012	0.0003	0	0	0.0068	0.0007	0.0005	0.0035	0.01	0.56456	D	0.001	0.83351	D	.	.	.	.	.	.	0.368670	0.04349	N	1.472120	1	0.08975	N	.	.	.	3.42	0.05507	T	-2.35	0.51968	N	0.113	0.10056	-0.9723	0.36712	T	0.019	0.07800	T	10	0.004674673	0.00098	T	0.010377	0.26850	T	0.088	0.25558	.	.	0.168933306366	0.16529	0.3942372021576567	0.39338	.	.	0.252693235874	0.04056	T	.	.	.	-0.592208	0.00162	T	-0.624598	0.10828	T	0.0268030799867487	0.01516	T	0.59464	0.22023	T	0.06531138	0.13945	0.0512048	0.08193	0.06531138	0.13945	0.0512048	0.08192	-7.106	0.54804	T	.	.	0.093	0.14201	B	.	.	2.465700	0.31770	18.84	0.99702856217893709	0.80729	0.02454	0.06901	N	AEFDBI	0.071413	0.14215	N	-0.483937549412463	0.22607	1.208	-0.642197718217624	0.18413	0.9835654	0.953359575416739	0.28069	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.1	0.72	0.17368	-0.187000	0.09652	1.423000	0.26381	0.599000	0.40250	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.3339:0.3531:0.313:0.0	6.992	0.23940	147	0.94143	.	.	.	.	.	.	Uncertain significance	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	1364.98	105	chr2	219609402	.	C	T	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=813;ExcessHet=0.0000;FS=2.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.03;SOR=0.824	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1379,0,1120	20	0	1	0
chr2	232024311	232024311	A	G	exonic	DIS3L2	.	nonsynonymous SNV	DIS3L2:NM_001257281:exon4:c.A245G:p.E82G	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.941	D	0.004	N	1.000	D	2.98	M	0.91	T	-0.302	T	0.309	T	0.887	4.029	20.7	5.6	2.248	7.860	16.086	0.502	0.0789319223204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.78490	D	0.025	0.92824	D	0.668	0.67487	P	0.271	0.67658	B	0.003644	0.34662	N	0.262255	0.999999	0.81001	D	2.62	0.76659	M	0.91	0.44856	T	-3.77	0.82221	D	0.833	0.91621	-0.3019	0.74932	T	0.309	0.67931	T	10	0.66479504	0.70364	D	0.078932	0.73118	D	0.502	0.78475	0.392	0.41606	0.305252298933	0.30134	0.7671091951868693	0.76659	0.68014917732	0.59968	0.722881555557	0.70467	T	0.27843	0.71852	T	0.252505	0.78835	D	0.12493	0.78561	D	0.985744178295135	0.76648	D	0.927407	0.73631	D	0.21740258	0.44222	0.41115364	0.65355	0.21740258	0.44222	0.41115364	0.65355	-12.885	0.88883	D	.	.	0.912	0.83600	P	.;.;.;.;.	.;.;.;.;.	4.230766	0.64072	24.7	0.99897095784245138	0.96971	0.98938	0.88891	D	AEFBI	0.841179	0.75840	D	0.721965830015146	0.81072	7.437447	0.723246955047047	0.84144	8.210872	0.999975466450158	0.50053	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	5.6	0.84997	7.241000	0.77652	11.201000	0.89033	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.086	0.80857	492	0.76569	.;Rrp44-like cold shock domain;.;Rrp44-like cold shock domain;Rrp44-like cold shock 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	54.98	82	chr2	232024311	.	A	G	54.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.815e+00;DP=828;ExcessHet=0.0000;FS=51.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.926;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,8:82:69:0|1:232024311_A_G:69,0,3033:232024311	20	0	1	0
chr2	232024314	232024314	C	G	exonic	DIS3L2	.	nonsynonymous SNV	DIS3L2:NM_001257281:exon4:c.C248G:p.A83G	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	825854	not_provided|Perlman_syndrome	MedGen:C3661900|MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.924	P	0.747	P	0.000	D	1.000	D	1	L	1.46	T	-1.077	T	0.102	T	0.424	3.136	16.48	4.73	1.509	3.853	17.060	0.128	0.0211095370799	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs113426398	4.106e-05	0.0005	4.655e-05	3.553e-05	0.0002	3.221e-05	2.946e-05	3.661e-05	3.31e-05	6.278e-05	0	3.916e-05	0	0	0.0002	4.737e-05	1.707e-05	2.481e-05	0	6.58e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.069	0.44029	T	0.039	0.92824	D	0.002	0.51285	B	0.001	0.55931	B	0.000325	0.45700	D	0.139629	0.996724	0.49637	D	2.285	0.65182	M	1.46	0.32238	T	-2.46	0.63554	N	0.571	0.64308	-1.0775	0.07841	T	0.102	0.37768	T	10	0.2936415	0.46938	T	0.02111	0.43827	T	0.128	0.35103	0.529	0.63560	0.165150595986	0.16160	0.7595944105354142	0.75907	0.226757036249	0.25220	0.726713240147	0.71027	T	0.077672	0.58365	T	-0.0843859	0.38997	T	-0.358991	0.38168	T	0.871802926063538	0.52169	D	0.756624	0.37993	T	0.15638953	0.35294	0.1687717	0.38861	0.15638953	0.35294	0.1687717	0.38860	-11.365	0.82471	D	0.33199929049229404	0.43000	0.458	0.62592	A	.;.;.;.;.	.;.;.;.;.	3.127233	0.42246	21.5	0.99608925615720612	0.74694	0.94787	0.62328	D	AEFBI	0.311518	0.41723	N	-0.0514419700394296	0.39539	2.333234	0.0774640283824017	0.43418	2.643929	0.715598805957634	0.22870	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	4.73	0.59485	3.442000	0.52663	3.333000	0.37643	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8728:0.1271:0.0	17.060	0.86419	492	0.76569	.;Rrp44-like cold shock domain;.;Rrp44-like cold shock domain;Rrp44-like cold shock 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	54.98	82	chr2	232024314	.	C	G	54.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.038e+00;DP=876;ExcessHet=0.0000;FS=52.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.16;SOR=5.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,8:82:69:0|1:232024311_A_G:69,0,3033:232024311	20	0	1	0
chr2	233469434	233469434	C	T	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon28:c.C3220T:p.R1074C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.696	P	0.000	D	0.999	D	2.095	M	-1.26	T	0.160	D	0.536	D	0.474	4.046	20.8	4.55	2.500	2.765	13.713	0.480	0.0759628593796	.	0.000199681	1.456e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs537522172	8.958e-06	1.026e-05	1.233e-05	5.547e-06	1.183e-05	5e-06	3.85e-06	3.82e-06	2.77e-06	0	0	3.865e-05	0	0	0	8.124e-06	3.339e-05	1.183e-05	3.283e-05	3.281e-05	3.855e-05	2.686e-05	0.0002	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.879e-05	0	0	0.001	0.78490	D	0.01	0.65728	D	0.99	0.67487	D	0.696	0.54017	P	0.000491	0.43931	D	0.149903	0.996114	0.46798	D	2.18	0.61292	M	-1.26	0.80730	T	-2.49	0.54217	N	0.433	0.50146	0.160	0.85228	D	0.536	0.82825	D	10	0.24645707	0.41911	T	0.075963	0.72416	D	0.480	0.77077	0.416	0.45544	0.779731230594	0.77770	0.277549278063158	0.27667	1.41397950274	0.85491	0.607537508011	0.53967	T	0.236025	0.60341	T	-0.0441661	0.45330	T	-0.121535	0.61677	T	0.989601671695709	0.79831	D	.	.	.	0.3097562	0.53765	0.22037257	0.46810	0.3097562	0.53765	0.22037257	0.46809	-8.053	0.61431	D	.	.	0.134	0.32945	B	.;.	.;.	5.131718	0.85875	28.7	0.99916043679945488	0.98379	0.87157	0.46612	D	AEFBHCI	0.398161	0.47395	N	0.531175313127867	0.68945	5.287359	0.503026497963457	0.68194	5.186489	0.99994246854133	0.47345	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.55	4.55	0.55429	2.563000	0.45585	3.853000	0.40098	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.1546:0.8454:0.0:0.0	13.713	0.62156	929	0.16858	Sterile alpha motif domain|Sterile alpha motif domain;Sterile alpha motif domain|Sterile alpha motif 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	772.98	62	chr2	233469434	.	C	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.092;SOR=0.689	GT:AD:DP:GQ:PL	0/1:35,27:62:99:787,0,836	20	0	1	0
chr2	238257038	238257038	T	G	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon17:c.A1949C:p.H650P,	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.94	P	0.36	B	0.314	N	0.892	N	1.005	L	3.0	T	-1.026	T	0.018	T	0.5	2.538	14.45	-3.78	-0.961	0.535	11.037	0.148	0.0076072627612	.	.	8.253e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs201312988	5.475e-06	5.472e-06	9.534e-06	1.376e-06	0.0002	2.36e-06	1.7e-06	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0.0002	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.15406	T	0.196	0.27943	T	0.0	0.02946	B	0.001	0.04355	B	0.313592	0.14391	N	0.719811	1	0.27865	N	0.475	0.13142	N	3.0	0.09167	T	-0.19	0.09965	N	0.122	0.11340	-1.0257	0.21853	T	0.018	0.07659	T	10	0.10763049	0.20001	T	0.007607	0.20192	T	0.148	0.39182	0.193	0.10437	0.24933006939	0.24537	0.1763496502005765	0.17553	0.340575943944	0.35999	0.317812919617	0.13090	T	0.049748	0.28396	T	-0.326949	0.06345	T	-0.510444	0.21270	T	0.303968101739883	0.25167	T	0.59944	0.22338	T	0.06068751	0.12481	0.087685235	0.20398	0.06068751	0.12481	0.087685235	0.20397	-0.725	0.00741	T	.	.	0.073	0.04477	B	.	.	-0.163258	0.03284	0.564	0.76959928377731324	0.11679	0.70323	0.34543	D	AEFDBHCI	0.170991	0.29793	N	-0.92967414318661	0.10153	0.4838237	-1.0060528598292	0.09651	0.4814247	0.999970411798022	0.50053	0.562547	0.31514	0	0.653731	0.59785	0	0.596874	0.31795	0	0.638833	0.57524	0	.	.	4.75	-3.78	0.04049	0.641000	0.24411	-2.649000	0.03508	-0.133000	0.13014	0.998000	0.41325	0.000000	0.08366	0.014000	0.10232	0.0:0.4806:0.0:0.5194	11.037	0.47023	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	1	0	0	0	0.02381	1094.98	91	chr2	238257038	.	T	G	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.441;SOR=0.646	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1109,0,1045	20	0	1	0
chr2	240482252	240482252	A	-	exonic	ANKMY1	.	frameshift deletion	ANKMY1:NM_001282780:exon12:c.1886delT:p.I629Tfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368827703	2.054e-06	2.052e-06	2.725e-06	1.377e-06	2.251e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.251e-05	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	480.94	37	chr2	240482251	.	GA	G	480.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.779e+00;DP=727;ExcessHet=0.0000;FS=7.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.15;SOR=0.132	GT:AD:DP:GQ:PL	0/1:22,15:37:99:495,0,761	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,90,0:90:99:.:.:3928,272,0,3928,272,3928	5	7	8	0
chr2	241217768	241217768	G	-	exonic	ANO7	.	frameshift deletion	ANO7:NM_001370694:exon20:c.2055delG:p.I686Sfs*144,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2037.94	127	chr2	241217767	.	AG	A	2037.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.830e-01;DP=1252;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.05;ReadPosRankSum=-1.315e+00;SOR=0.685	GT:AD:DP:GQ:PL	0/1:66,61:127:99:2052,0,2261	20	0	1	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:33,4,35:78:99:668,633,1754,0,734,629	0	0	1	0
chr2	241872984	241872984	G	A	exonic	RTP5	.	nonsynonymous SNV	RTP5:NM_173821:exon2:c.G1429A:p.A477T,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.002	B	.	.	1.000	N	0	N	1.79	T	-1.018	T	0.030	T	0.146	3.353	17.29	2.14	0.276	0.013	5.249	0.045	0.00159870751407	8e-05	.	0.0006	0	0.0042	0	0	0.0003	0.0068	0.0001	0.0005175	80	154602	rs201217872	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0018	0.0016	2.987e-05	0.0021	0.0029	0	1.909e-05	0.0003	5.666e-05	0.0005	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.238e-05	0.0002	0.0001	2.412e-05	0	0.0004	0.0035	0	0	0	5.88e-05	0.0005	0	0.002	0.72154	D	0.038	0.51421	D	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.79	0.25509	T	-0.04	0.07590	N	0.061	0.03283	-1.0176	0.24495	T	0.030	0.12760	T	9	0.004478723	0.00092	T	0.001599	0.02574	T	0.045	0.12272	.	.	0.0297737177859	0.01360	0.06525795777817359	0.06464	0.166297209655	0.18766	0.32952272892	0.14862	T	0.008417	0.07732	T	-0.590048	0.00168	T	-0.626815	0.10657	T	0.0157341845755499	0.00364	T	0.369963	0.08710	T	0.04785745	0.08248	0.08695346	0.20181	0.04785745	0.08247	0.08695346	0.20180	-2.693	0.07245	T	.	.	0.091	0.13268	B	.	.	1.601722	0.20476	14.77	0.97439302967786001	0.33972	0.00653	0.02839	N	AEFBI	0.017858	0.00498	N	-1.39023255595696	0.02729	0.1209104	-1.40866917473695	0.03165	0.1470824	0.860097856226808	0.25209	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.14	2.14	0.26518	-0.146000	0.10233	0.796000	0.21614	-0.191000	0.09375	0.003000	0.16062	0.022000	0.20871	0.002000	0.04165	0.0:0.0:0.3037:0.6963	5.249	0.14829	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1411.98	118	chr2	241872984	.	G	A	1411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=894;ExcessHet=0.0000;FS=0.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.316;SOR=0.780	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1426,0,1499	20	0	1	0
chr3	9923985	9923985	C	G	exonic	IL17RC	.	nonsynonymous SNV	IL17RC:NM_001367279:exon6:c.C607G:p.Q203E	Candidiasis, familial, 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.435	B	0.085	B	0.194	N	1.000	N	1.905	M	2.74	T	-1.016	T	0.029	T	0.24	-1.239	0.055	3.85	0.767	0.551	8.637	0.026	0.00360174229617	.	.	3.296e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs752152533	1.779e-05	1.779e-05	8.168e-06	2.75e-05	0.0003	1.237e-05	1.051e-05	0.0001	0.0001	0	0	0	2.519e-05	0	0.0003	0	8.279e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.41915	T	0.103	0.40909	T	0.341	0.35719	B	0.085	0.29395	B	0.193746	0.16777	N	0.538742	1	0.08975	N	2.015	0.55033	M	2.54	0.13916	T	-1.21	0.30762	N	0.28	0.31702	-1.0159	0.25045	T	0.029	0.12278	T	10	0.049818754	0.04624	T	0.003602	0.08247	T	0.026	0.05648	0.31	0.28289	0.117506650769	0.11410	0.19809999384985602	0.19726	0.263017185051	0.28861	0.273654341698	0.06623	T	0.113653	0.43085	T	-0.437622	0.01336	T	-0.570198	0.15430	T	0.0551424615599947	0.06381	T	0.863014	0.57103	D	0.117180936	0.27628	0.11499975	0.27759	0.117180936	0.27628	0.11499975	0.27758	-4.724	0.36490	T	.	.	0.079	0.08465	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.838597	0.12104	8.654	0.58914366056035983	0.06102	0.18005	0.20079	N	AEFBI	0.142332	0.26474	N	-0.70187363259952	0.15968	0.8095125	-0.725207997102021	0.16334	0.8635801	0.999953802473046	0.48110	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.63	3.85	0.43556	0.306000	0.19030	0.835000	0.21986	0.599000	0.40250	0.013000	0.18845	0.270000	0.24042	0.038000	0.14061	0.0:0.8305:0.0:0.1695	8.637	0.33117	648	0.63242	.;.;Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal;.;Interleukin-17 receptor C/E, N-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	607.98	79	chr3	9923985	.	C	G	607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.080e+00;DP=769;ExcessHet=0.0000;FS=4.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.70;ReadPosRankSum=-3.050e-01;SOR=0.320	GT:AD:DP:GQ:PL	0/1:47,32:79:99:622,0,1256	20	0	1	0
chr3	14661694	14661694	C	T	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon5:c.C472T:p.P158S,	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	.	419	1099	4	0	0	4	0.00181653	.	.	1016185	Severe_hypotonia-psychomotor_developmental_delay-strabismus-cardiac_septal_defect_syndrome|not_provided	MONDO:MONDO:0014784,MedGen:C4225196,OMIM:616816,Orphanet:467176|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.998	D	0.928	D	0.000	D	1.000	D	1.635	L	1.0	T	-0.871	T	0.210	T	0.612	2.777	15.25	5.65	2.660	3.244	18.506	0.101	0.0191829496662	0.0010	0.000199681	0.0007	0.0004	8.652e-05	0	0.0014	0.0010	0	0	0.0007827	121	154602	rs145180886	0.0018	0.0018	0.0018	0.0018	0.0022	0.0017	0.0017	0.0022	0.0021	0.0004	6.806e-05	0	0	0.0008	0.0007	0.0022	0.0015	0	0.0010	0.0010	0.0011	0.0009	0.0017	0.0009	0.0008	0.0014	0.0013	0.0005	0	0.0003	0	0	0.0012	0	0.0017	0	0	0.24	0.24090	T	0.209	0.47097	T	0.998	0.73220	D	0.928	0.66279	D	0.000001	0.84330	D	0.056880	0.99997	0.53665	D	2.32	0.66415	M	0.97	0.42502	T	-3.4	0.69593	D	0.347	0.38848	-0.8706	0.50484	T	0.210	0.57000	T	10	0.02024728	0.00463	T	0.019183	0.41471	T	0.101	0.28911	.	.	0.681597050132	0.67888	0.37725612578991685	0.37640	0.0910040194683	0.10278	0.440350711346	0.30625	T	0.406638	0.76248	T	-0.180458	0.23666	T	-0.0381586	0.67826	D	0.0455554164946079	0.04703	T	0.869413	0.58047	D	0.27932197	0.50982	0.2983665	0.55870	0.27932197	0.50982	0.2983665	0.55869	-7.858	0.60098	D	.	.	0.117	0.31683	B	.;.	.;.	3.687314	0.52517	23.2	0.99478623728226367	0.66741	0.98209	0.80557	D	AEFBI	0.442721	0.50033	N	0.539104032570605	0.69419	5.354513	0.542329864427757	0.70863	5.568528	0.999996997773035	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	3.376000	0.52148	4.011000	0.41162	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.0:1.0:0.0:0.0	18.506	0.90846	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	1	0	0	0	0	0	0	0.02381	2312.98	162	chr3	14661694	.	C	T	2312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=1076;ExcessHet=0.0000;FS=1.253;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-2.161e+00;SOR=0.844	GT:AD:DP:GQ:PL	0/1:80,82:162:99:2327,0,2131	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	0/1:187,43:230:35:.:.:35,0,3837	8	0	12	1
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,76,0,0,0:76:99:3395,3397,3399,3397,3399,3399,227,229,229,0,3397,3399,3399,229,3399,3397,3399,3399,229,3399,3399,3397,3399,3399,229,3399,3399,3399	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,76,0,0,0:76:99:3395,3397,3399,3397,3399,3399,227,229,229,0,3397,3399,3399,229,3399,3397,3399,3399,229,3399,3399,3397,3399,3399,229,3399,3399,3399	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,76,0,0,0:76:99:3395,3397,3399,3397,3399,3399,227,229,229,0,3397,3399,3399,229,3399,3397,3399,3399,229,3399,3399,3397,3399,3399,229,3399,3399,3399	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,76,0,0,0:76:99:3395,3397,3399,3397,3399,3399,227,229,229,0,3397,3399,3399,229,3399,3397,3399,3399,229,3399,3399,3397,3399,3399,229,3399,3399,3399	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,76,0,0,0:76:99:3395,3397,3399,3397,3399,3399,227,229,229,0,3397,3399,3399,229,3399,3397,3399,3399,229,3399,3399,3397,3399,3399,229,3399,3399,3399	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,86,0,0,0:90:99:3766,260,0,3800,280,3943,3800,280,3943,3943,3800,280,3943,3943,3943	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,86,0,0,0:90:99:3766,260,0,3800,280,3943,3800,280,3943,3943,3800,280,3943,3943,3943	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,86,0,0,0:90:99:3766,260,0,3800,280,3943,3800,280,3943,3943,3800,280,3943,3943,3943	1	3	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	1/1:0,62,0:62:99:2712,186,0,2712,186,2712	2	7	11	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,96,0:96:99:4313,290,0,4313,290,4313	0	4	6	0
chr3	49419325	49419325	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_001164710:exon5:c.G499A:p.E167K	Glycine encephalopathy, Autosomal recessive	.	0	1424	94	4	0	102	0.0345763	.	.	452827	not_provided|Non-ketotic_hyperglycinemia|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.037	B	0.063	B	0.017	N	0.921	D	0.705	N	-1.73	D	-0.999	T	0.063	T	0.694	2.566	14.54	3.64	1.300	2.511	9.263	0.077	.	0.0065	0.0071885	0.0110	0.0012	0.0059	0	0.0136	0.0125	0.0203	0.0191	0.0104591	1617	154602	rs116192290	0.0089	0.0089	0.0083	0.0095	0.0270	0.0087	0.0087	0.0236	0.0223	0.0012	0.0066	0.0194	7.557e-05	0.0116	0.0270	0.0082	0.0102	0.0182	0.0079	0.0079	0.0078	0.0081	0.0174	0.0075	0.0074	0.0144	0.0133	0.0018	0.0219	0.0074	0.0170	0	0.0131	0.0272	0.0099	0.0137	0.0174	0.661	0.13262	T	0.8	0.04142	T	0.019	0.17989	B	0.023	0.19966	B	0.016838	0.27876	N	0.416320	0.655655	0.36667	D	0.19	0.09125	N	-1.73	0.83327	D	-1.46	0.37375	N	0.179	0.30118	-0.9990	0.30199	T	0.063	0.26136	T	10	0.008803636	0.00199	T	.	.	.	0.437	0.74164	.	.	.	.	0.6177274581730304	0.61705	0.234613189541	0.26000	0.587630629539	0.51160	T	0.595225	0.86947	D	-0.199244	0.20915	T	-0.0440396	0.67427	D	0.00989505753933275	0.00131	T	0.948205	0.80130	D	0.3693229	0.58535	0.14150867	0.33697	0.3693229	0.58535	0.14150867	0.33696	-6.095	0.48405	T	0.12287218848646665	0.11830	0.133	0.35034	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.845707	0.37553	20.5	0.99527904960598856	0.69653	0.64042	0.32280	D	AEFDGBCI	0.282641	0.39593	N	0.0923306099819885	0.46106	2.856147	0.178970971326757	0.48694	3.082081	0.999999700014168	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	5.43	3.64	0.40864	2.567000	0.45619	3.305000	0.37415	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.827:0.0:0.173	9.263	0.36786	1	0.99630	Aminomethyltransferase, folate-binding domain;.;.;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;.;.	.	.	.	.	rs116192290	Uncertain significance	0	0	0	0	0	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	1485.98	120	chr3	49419325	.	C	T	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=809;ExcessHet=0.0000;FS=3.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.145;SOR=0.424	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1500,0,1661	20	0	1	0
chr3	49701504	49701504	C	T	exonic	RNF123	.	nonsynonymous SNV	RNF123:NM_022064:exon16:c.C1291T:p.R431C,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.993	D	0.007	N	1.000	D	0.55	N	-0.68	T	-0.245	T	0.403	T	0.892	3.167	16.59	4.82	1.376	5.530	14.972	0.392	0.245817894919	.	.	9.977e-05	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs752231755	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0	0	0.0005	2.519e-05	0	0.0005	0.0001	0.0001	0	7.883e-05	8.536e-05	0.0001	4.034e-05	0.0001	4.496e-05	3.512e-05	7.907e-05	5.993e-05	2.413e-05	0	6.539e-05	0	0	0	0	0.0001	0	0	0.17	0.91255	T	0.001	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.006585	0.31929	N	0.328896	0.999999	0.58761	D	1.04	0.26193	L	-0.68	0.75789	T	-0.81	0.22294	N	0.861	0.87808	-0.2455	0.76480	T	0.403	0.75366	T	10	0.743267	0.75108	D	0.245818	0.88902	D	0.392	0.70764	.	.	0.801782176853	0.79993	0.6488406042146031	0.64820	1.07698736004	0.77008	0.678844571114	0.64103	T	0.019593	0.15579	T	0.129566	0.67319	D	0.227771	0.84559	D	0.431962668895721	0.30133	T	0.962604	0.86656	D	0.28575924	0.51596	0.05570694	0.09822	0.28575924	0.51596	0.05570694	0.09821	-10.448	0.76548	D	.	.	0.360	0.61203	A	.;.	.;.	4.870309	0.79777	27.2	0.99882934865705397	0.95892	0.98574	0.84258	D	AEFDGBHCI	0.815501	0.73746	D	0.18062655754346	0.50270	3.218588	0.16847448928091	0.48130	3.033068	0.999999999568851	0.74766	0.789315	0.99827	0	0.577304	0.33150	0	0.768056	0.98339	0	0.714379	0.83352	0	.	.	5.71	4.82	0.61641	5.609000	0.67343	5.931000	0.51320	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.1438:0.8562:0.0:0.0	14.972	0.70896	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	880.98	84	chr3	49701504	.	C	T	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=792;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.662;SOR=0.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,36:84:99:0|1:49701504_C_T:895,0,1901:49701504	20	0	1	0
chr3	49899193	49899193	G	A	exonic	MST1R	.	nonsynonymous SNV	MST1R:NM_001244937:exon2:c.C1301T:p.S434L	.	.	416	1068	37	1	0	39	0.017931	.	.	3191967	MST1R-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.004	B	0.286	N	1.000	N	-0.55	N	2.82	T	-0.976	T	0.008	T	0.114	0.254	5.373	-7.08	-1.589	-0.875	1.154	0.039	0.00297458851459	0.0008	0.00139776	0.0018	9.623e-05	0.0016	0	0.0003	0.0013	0.0077	0.0061	0.0016171	250	154602	rs2230591	0.0012	0.0012	0.0009	0.0015	0.0175	0.0012	0.0011	0.0147	0.0137	2.987e-05	0.0009	0.0024	7.557e-05	0.0002	0.0175	0.0008	0.0019	0.0068	0.0009	0.0009	0.0008	0.0010	0.0068	0.0008	0.0007	0.0050	0.0044	0.0002	0	0.0005	0.0017	0	0.0002	0.0170	0.0011	0.0028	0.0068	0.634	0.05436	T	0.631	0.07316	T	0.0	0.02946	B	0.004	0.10090	B	0.285864	0.03862	N	1.389580	1	0.08975	N	0.22	0.09567	N	2.82	0.10871	T	-1.29	0.32387	N	0.098	0.09066	-0.9762	0.35860	T	0.008	0.02926	T	10	0.0058416724	0.00130	T	0.002975	0.06339	T	0.039	0.10176	.	.	0.12205267543	0.11705	0.5909671984149649	0.59026	0.16178190297	0.18257	0.258691132069	0.04736	T	0.087701	0.37999	T	-0.686297	0.00044	T	-0.755009	0.03294	T	0.00712579600347077	0.00081	T	0.707329	0.31793	T	0.07501784	0.16873	0.06977867	0.14744	0.11437104	0.27001	0.077430174	0.17248	-6.57	0.50823	T	.	.	0.089	0.12276	B	.;.	.;.	-0.363962	0.02350	0.255	0.78777275926638135	0.12448	0.13711	0.18009	N	AEFDGBHCI	0.177437	0.30467	N	-1.74925140978968	0.00682	0.02941146	-1.7299566151157	0.01011	0.04532415	0.999999999832608	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.604944	0.38103	0	.	.	5.82	-7.08	0.01404	-1.930000	0.01648	-0.788000	0.07426	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.175000	0.21139	0.4178:0.1557:0.1291:0.2974	1.154	0.01681	1	0.99630	Sema domain|Sema domain|Sema domain|RON, Sema 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	2051.98	158	chr3	49899193	.	G	A	2051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=924;ExcessHet=0.0000;FS=4.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.409;SOR=1.048	GT:AD:DP:GQ:PL	0/1:80,78:158:99:2066,0,2011	20	0	1	0
chr3	50273405	50273405	G	C	exonic	SEMA3B	.	nonsynonymous SNV	SEMA3B:NM_001290060:exon7:c.G772C:p.G258R	.	.	413	1092	15	2	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.000	D	.	.	.	.	.	.	-0.219	T	0.334	T	0.143	1.157	9.711	5.0	2.597	3.511	9.239	0.366	.	0.0002	0.000599042	0.0008	0	0.0003	0	0	0.0006	0.0011	0.0036	0.0006856	106	154602	rs148660513	0.0005	0.0005	0.0004	0.0006	0.0042	0.0005	0.0004	0.0030	0.0028	2.987e-05	0.0005	0.0027	0	0	0.0042	0.0002	0.0009	0.0033	0.0005	0.0005	0.0004	0.0006	0.0031	0.0004	0.0004	0.0019	0.0015	4.808e-05	0	0.0013	0.0037	0	0	0	0.0003	0.0028	0.0031	.	.	.	0.096	0.39340	T	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.053184	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.53181	-0.2191	0.77175	T	0.334	0.70150	T	7	0.015580356	0.00327	T	.	.	.	.	.	0.558	0.67684	0.502005994047	0.49837	0.7706683465859802	0.77015	.	.	0.614570021629	0.54961	T	0.115302	0.43378	T	-0.312711	0.07511	T	-0.22407	0.52344	T	0.241436918317453	0.22486	T	0.864713	0.56210	D	0.3951943	0.60398	0.5366691	0.73225	0.3951943	0.60399	0.5366691	0.73226	-8.129	0.61946	D	.	.	0.347	0.61414	A	.;.;.;.	.;.;.;.	5.526492	0.91831	32	0.91339233937260367	0.20602	0.87689	0.47313	D	AEFDGBCIJ	.	.	.	0.554139045670579	0.70335	5.486381	0.515404544528013	0.69026	5.301851	0.999999996992565	0.74766	0.228283	0.04149	0	0.225491	0.04819	0	0.181291	0.04369	1	0.166187	0.04126	0	0.891219	0.55852	5.0	5.0	0.66209	3.388000	0.52247	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.601000	0.31412	0.0959:0.0:0.9041:0.0	9.239	0.36647	3	0.99430	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.;Sema domain|Sema domain|Sema 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	4580.11	222	chr3	50273405	.	G	C	4580.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.285;DP=1090;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=0.496;SOR=0.640	GT:AD:DP:GQ:PL	0/1:108,114:222:99:2468,0,2514	19	0	2	0
chr3	51958893	51958893	G	A	exonic	PCBP4	.	nonsynonymous SNV	PCBP4:NM_020418:exon12:c.C691T:p.H231Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.99	D	0.915	D	0.000	D	1.000	D	0.915	L	1.52	T	-0.997	T	0.124	T	0.471	4.826	27.4	5.12	2.360	9.860	18.158	0.305	0.0134518418199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.46513	T	0.553	0.11515	T	0.969	0.56768	D	0.715	0.54683	P	0.000002	0.62929	D	0.059528	0.999985	0.54805	D	1.515	0.38264	L	1.52	0.30669	T	-0.88	0.32991	N	0.583	0.61256	-0.9967	0.30838	T	0.124	0.42694	T	10	0.32623082	0.49923	T	0.013452	0.32862	T	0.305	0.62620	.	.	0.393623145366	0.38971	0.4235174097411285	0.42268	1.20970672204	0.80796	0.777694761753	0.78581	T	0.043426	0.26496	T	-0.0557747	0.43564	T	-0.317893	0.42805	T	0.80117872843794	0.46433	D	0.954005	0.82493	D	0.20958991	0.43231	0.17919762	0.40639	0.20958991	0.43231	0.17919762	0.40638	-9.414	0.70323	D	.	.	0.199	0.51174	B	.;.;.;.;.;.	.;.;.;.;.;.	4.883306	0.80103	27.2	0.99720286312766515	0.81984	0.98998	0.89743	D	AEFDGBI	0.936381	0.93263	D	0.466250762734697	0.65131	4.784052	0.510404943732494	0.68690	5.254826	1.0	0.98316	0.67177	0.52595	0	0.723109	0.82256	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	9.994000	0.99266	11.767000	0.95766	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.158	0.89632	261	0.89765	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1687.98	162	chr3	51958893	.	G	A	1687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=874;ExcessHet=0.0000;FS=1.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-1.152e+00;SOR=0.841	GT:AD:DP:GQ:PL	0/1:87,75:162:99:1702,0,2144	20	0	1	0
chr3	54888022	54888022	A	G	exonic	CACNA2D3	.	nonsynonymous SNV	CACNA2D3:NM_018398:exon24:c.A2120G:p.Y707C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.984	D	0.000	D	1.000	D	2.8	M	1.51	T	-0.695	T	0.213	T	0.913	4.173	21.6	5.53	2.106	8.957	14.266	0.554	0.0571932644178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.003	0.76473	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.99994	0.51968	D	2.49	0.72568	M	1.51	0.30937	T	-6.64	0.92217	D	0.899	0.90138	-0.6951	0.60670	T	0.213	0.57347	T	10	0.840887	0.83245	D	0.057193	0.66878	D	0.554	0.81601	0.504	0.59770	0.738098091381	0.73575	0.7907648853934576	0.79028	1.05308525132	0.76224	0.917418718338	0.98120	D	0.301791	0.67422	T	0.235	0.77172	D	0.0994972	0.76875	D	0.992926418781281	0.83541	D	0.956904	0.83579	D	0.48355144	0.66115	0.48435488	0.70150	0.48355144	0.66116	0.48435488	0.70151	-15.993	0.97750	D	.	.	0.952	0.87116	P	.;.;.;.	.;.;.;.	4.599196	0.72823	25.9	0.99808802845277933	0.89264	0.98982	0.89513	D	AEFGI	0.954570	0.97177	D	0.784792666828423	0.85144	8.489725	0.721652512139191	0.84025	8.177882	0.99999999999568	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	8.942000	0.92506	11.160000	0.87621	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	14.266	0.65667	881	0.29269	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.	.	.	.	.	.	Uncertain significance	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	1601.98	142	chr3	54888022	.	A	G	1601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.439;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.245;SOR=0.650	GT:AD:DP:GQ:PL	0/1:74,68:142:99:1616,0,1763	20	0	1	0
chr3	57293947	57293947	G	A	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon74:c.C11717T:p.S3906L,	.	.	444	1076	2	0	0	2	0.000928505	.	.	2333219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.291	B	0.258	B	0.256	N	0.996	N	0.62	N	3.02	T	-0.966	T	0.018	T	0.291	0.908	8.696	1.65	0.013	2.667	7.823	0.048	0.0214323152657	.	.	0.0006	0	0.0025	0	0	0.0004	0.0043	0.0009	7.76e-05	12	154602	rs773673721	9.755e-05	0.0001	7.467e-05	0.0001	0.0014	8.341e-05	7.812e-05	0.0006	0.0005	0.0002	0.0003	0	0	2.253e-05	0.0014	6.698e-05	0.0001	0.0005	8.114e-05	7.987e-05	7.885e-05	8.357e-05	0.0002	4.619e-05	3.608e-05	6.969e-05	5.134e-05	2.485e-05	0	6.764e-05	0	0	0	0	0.0001	0	0.0002	0.031	0.45039	D	.	.	.	0.291	0.32334	B	0.258	0.39350	B	0.256476	0.15401	N	0.646401	1	0.08975	N	0.48	0.13178	N	3.02	0.08986	T	-1.52	0.36980	N	0.13	0.12484	-0.9661	0.37994	T	0.018	0.07518	T	10	0.010202736	0.00228	T	0.021432	0.44197	T	0.048	0.13305	.	.	0.403896168776	0.40002	.	.	.	.	0.415984153748	0.27283	T	0.013361	0.11574	T	-0.500794	0.00566	T	-0.568837	0.15555	T	0.02865857058335	0.01786	T	0.488051	0.17380	T	0.08239395	0.18979	0.09621834	0.22852	0.08239395	0.18978	0.09621834	0.22851	-3.125	0.11586	T	.	.	0.095	0.15115	B	.;.	.;.	2.300814	0.29439	18.12	0.78979674264889144	0.12536	0.49526	0.28453	N	AEFI	0.204708	0.33112	N	-0.555015678062506	0.20327	1.07072	-0.502235041342342	0.22092	1.198262	0.0368036811065326	0.14262	0.516011	0.20929	0	0.573888	0.26702	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.56	1.65	0.23015	2.785000	0.47470	0.582000	0.19717	0.665000	0.62972	0.155000	0.23727	0.000000	0.08366	0.994000	0.71098	0.197:0.1168:0.6863:0.0	7.823	0.28462	217	0.91564	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	903.98	63	chr3	57293947	.	G	A	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=816;ExcessHet=0.0000;FS=2.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=1.32;SOR=1.127	GT:AD:DP:GQ:PL	0/1:29,34:63:99:918,0,630	20	0	1	0
chr3	66262059	66262059	C	-	exonic	SLC25A26	.	stopgain	SLC25A26:NM_001164796:exon3:c.45delC:p.L16*	Combined oxidative phosphorylation deficiency 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.115e-06	2.052e-06	2.794e-06	1.423e-06	9.188e-07	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0	9.188e-07	3.391e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	924.94	49	chr3	66262058	.	GC	G	924.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.151;DP=728;ExcessHet=0.0000;FS=4.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.88;ReadPosRankSum=-1.050e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/1:20,29:49:99:939,0,587	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|1:59,74:133:99:0|1:75730450_C_T:2889,0,2183:75730450	0	0	20	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,38:155:99:.:.:638,0,4400	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,64:158:99:.:.:2355,0,3477	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|1:109,55:164:99:0|1:75736920_C_A:1961,0,4390:75736920	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|1:112,54:166:99:0|1:75736920_C_A:1924,0,4533:75736920	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	0/1:91,61:152:99:1477,0,2703	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	0/1:92,78:170:99:2038,0,2392	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	0/1:67,104:171:99:2460,0,1522	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|1:77,109:186:99:0|1:75737092_C_T:4298,0,2897:75737092	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|1:77,110:187:99:0|1:75737092_C_T:4340,0,2894:75737092	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|1:73,103:176:99:0|1:75737092_C_T:4105,0,2755:75737092	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|1:75,95:170:99:0|1:75737092_C_T:3763,0,2863:75737092	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|1:76,53:129:99:0|1:75737092_C_T:1997,0,3013:75737092	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|1:100,9:109:72:0|1:75737228_T_C:72,0,4125:75737228	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|1:76,106:182:99:0|1:75737519_G_A:3976,0,2721:75737519	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,109:214:99:0|1:75737590_A_G:4203,0,4054:75737590	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|1:113,114:227:99:0|1:75737590_A_G:4447,0,4402:75737590	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|1:122,126:248:99:0|1:75737590_A_G:4923,0,4743:75737590	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|1:114,132:246:99:0|1:75737590_A_G:5199,0,4389:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,131:235:99:0|1:75737590_A_G:5188,0,3973:75737590	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,97:236:99:0|1:75737814_C_T:3544,0,5203:75737814	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|1:140,45:185:99:0|1:75737881_T_C:1274,0,5668:75737881	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|1:156,37:193:99:0|1:75737881_T_C:1043,0,6393:75737881	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|1:154,37:191:99:0|1:75737881_T_C:1055,0,6350:75737881	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	0/1:183,35:218:99:908,0,7535	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|1:216,41:257:99:0|1:75737994_T_C:1071,0,8851:75737994	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|1:202,32:234:99:0|1:75738051_G_T:695,0,8380:75738051	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|1:190,24:214:99:0|1:75738051_G_T:436,0,7906:75738051	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|1:190,22:212:99:0|1:75738051_G_T:352,0,7912:75738051	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|1:185,20:205:99:0|1:75738051_G_T:283,0,7708:75738051	12	0	8	1
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G	.	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.051	B	0.018	B	.	.	1.000	N	1.605	L	3.17	T	-0.965	T	0.018	T	0.433	2.181	13.25	-1.16	-0.196	-1.100	2.211	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	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	0.04762	98.42	194	chr3	75738100	.	T	C	98.42	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.354e+00;DP=3501;ExcessHet=0.1072;FS=17.067;InbreedingCoeff=-0.0385;MLEAC=1;MLEAF=0.024;MQ=58.20;MQRankSum=-1.008e+01;QD=0.23;ReadPosRankSum=-3.737e+00;SOR=2.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,13:194:1:0|1:75738051_G_T:1,0,7561:75738051	19	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:113,13:126:80:80,0,3170	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	0/1:43,32:75:99:660,0,1226	0	0	21	0
chr3	97959143	97959143	G	A	exonic	RIOX2	.	nonsynonymous SNV	RIOX2:NM_001042533:exon4:c.C589T:p.R197C	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.991	D	0.000	N	1.000	D	3.12	M	1.74	T	-0.693	T	0.191	T	0.457	4.339	22.8	4.83	1.402	3.301	10.475	0.322	0.0467941150693	7.7e-05	0.000199681	7.538e-05	9.726e-05	0.0003	0	0	3.042e-05	0.0011	0.0001	7.76e-05	12	154602	rs139798076	3.626e-05	3.694e-05	4.356e-05	2.888e-05	0.0001	2.828e-05	2.565e-05	5.806e-05	3.953e-05	8.962e-05	0.0001	0	0	0	0	3.148e-05	6.624e-05	5.799e-05	5.914e-05	5.906e-05	6.427e-05	5.377e-05	0.0001	3.077e-05	2.21e-05	2.847e-05	1.858e-05	4.818e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000007	0.62929	N	0.104471	1	0.81001	D	.	.	.	1.74	0.26301	T	-6.44	0.92863	D	0.677	0.68516	-0.6933	0.60754	T	0.191	0.54374	T	10	0.49388278	0.61152	T	0.046794	0.62625	D	0.322	0.64420	.	.	0.714182674065	0.71167	0.694416627719886	0.69382	0.157335627491	0.17763	0.527468681335	0.42678	T	0.220221	0.58345	T	-0.163076	0.26288	T	-0.268424	0.47978	T	0.95701676607132	0.64902	D	0.914809	0.77539	D	0.8947657	0.90920	0.6947757	0.82031	0.8947657	0.90922	0.6947757	0.82032	-10.007	0.74181	D	.	.	0.125	0.44910	B	.;.;.;.	.;.;.;.	5.081930	0.84817	28.4	0.99935816785145226	0.99621	0.94251	0.60575	D	AEFDBI	0.577835	0.57927	D	0.714640541929416	0.80590	7.328504	0.643502203300203	0.78127	6.814307	0.999992056326012	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	4.83	0.61880	3.386000	0.52232	5.090000	0.47345	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0693:0.0:0.7973:0.1334	10.475	0.43843	798	0.45050	JmjC domain|JmjC domain;JmjC domain|JmjC domain;.;JmjC domain|JmjC domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.98	39	chr3	97959143	.	G	A	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.397;DP=743;ExcessHet=0.0000;FS=3.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.56;ReadPosRankSum=0.750;SOR=0.330	GT:AD:DP:GQ:PL	0/1:11,28:39:99:816,0,224	20	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	611.64	118	chr3	98133455	.	GACCCC	G	611.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-8.970e-01;DP=1898;ExcessHet=0.3300;FS=172.190;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.427;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,19:118:99:0|1:98133455_GACCCC_G:244,0,3866:98133455	18	0	3	0
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|2:99,0,19:118:99:0|1:98133455_GACCCC_G:244,540,4462,0,3922,3866:98133455	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|2:99,0,19:118:99:0|1:98133455_GACCCC_G:244,540,4462,0,3922,3866:98133455	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|2:99,0,19:118:99:0|1:98133455_GACCCC_G:244,540,4462,0,3922,3866:98133455	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|2:99,0,19:118:99:0|1:98133455_GACCCC_G:244,540,4462,0,3922,3866:98133455	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|2:99,0,19:118:99:0|1:98133455_GACCCC_G:244,540,4462,0,3922,3866:98133455	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|2:97,0,18,0,0,0:115:99:0|1:98133455_GACCCC_G:233,524,4411,0,3886,3833,524,4411,3886,4411,524,4411,3886,4411,4411,524,4411,3886,4411,4411,4411:98133455	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|2:97,0,18,0,0,0:115:99:0|1:98133455_GACCCC_G:233,524,4411,0,3886,3833,524,4411,3886,4411,524,4411,3886,4411,4411,524,4411,3886,4411,4411,4411:98133455	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|2:97,0,18,0,0,0:115:99:0|1:98133455_GACCCC_G:233,524,4411,0,3886,3833,524,4411,3886,4411,524,4411,3886,4411,4411,524,4411,3886,4411,4411,4411:98133455	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|2:97,0,18,0,0,0:115:99:0|1:98133455_GACCCC_G:233,524,4411,0,3886,3833,524,4411,3886,4411,524,4411,3886,4411,4411,524,4411,3886,4411,4411,4411:98133455	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|2:97,0,18,0,0,0:115:99:0|1:98133455_GACCCC_G:233,524,4411,0,3886,3833,524,4411,3886,4411,524,4411,3886,4411,4411,524,4411,3886,4411,4411,4411:98133455	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|1:103,18,0:121:99:0|1:98133455_GACCCC_G:215,0,3962,524,4016,4540:98133455	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|1:103,18,0:121:99:0|1:98133455_GACCCC_G:215,0,3962,524,4016,4540:98133455	14	0	6	0
chr3	98849544	98849544	T	C	exonic	DCBLD2	.	nonsynonymous SNV	DCBLD2:NM_080927:exon3:c.A488G:p.N163S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.101	B	0.043	B	0.000	N	0.867	N	1.87	L	1.05	T	-1.014	T	0.090	T	0.265	2.036	12.76	3.27	0.434	2.789	7.764	0.053	0.0074994288734	0.0003	.	0.0002	0.0007	0	0.0001	0	0	0	0.0009	0.0001488	23	154602	rs201626100	8.005e-05	8.003e-05	5.037e-05	0.0001	0.0007	6.802e-05	6.356e-05	0.0006	0.0005	0.0004	2.236e-05	0	0.0002	0	0	1.799e-05	0.0001	0.0007	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.533e-05	0	0	0	0	0	0	0.0004	0.282	0.28772	T	0.086	0.40909	T	0.013	0.25775	B	0.018	0.24256	B	0.000107	0.50451	N	0.230056	0.867316	0.28262	N	1.87	0.49600	L	1.05	0.39990	T	-2.46	0.67477	N	0.44	0.47857	-1.0136	0.25784	T	0.090	0.34491	T	10	0.058725595	0.06948	T	0.007499	0.19899	T	0.053	0.14996	.	.	0.312608672186	0.30878	0.4216157951341592	0.42077	0.0974575988704	0.11007	0.421861767769	0.28092	T	0.006754	0.26303	T	-0.42937	0.01495	T	-0.445884	0.28153	T	0.0536794854776853	0.06135	T	0.738626	0.36203	T	0.07119863	0.15745	0.06801984	0.14149	0.07119863	0.15744	0.06801984	0.14148	-5.744	0.44198	T	.	.	0.071	0.28550	B	.;.;.	.;.;.	2.339192	0.29972	18.29	0.98132154920890025	0.38530	0.63818	0.32208	D	AEFBCI	0.167633	0.29432	N	-0.207047705448752	0.32843	1.856832	-0.0772665717971298	0.36333	2.113035	0.99776236288938	0.36002	0.740787	0.97801	0	0.696367	0.67918	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.62	3.27	0.36580	3.104000	0.49998	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1762:0.0:0.8238	7.764	0.28135	779	0.47767	CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1027.98	78	chr3	98849544	.	T	C	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.493e+00;DP=771;ExcessHet=0.0000;FS=6.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-1.123e+00;SOR=0.279	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1042,0,1068	20	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,20:43:99:0|1:100775333_T_C:282,0,381:100775333	4	0	17	0
chr3	112080982	112080982	-	A	exonic	TMPRSS7	.	frameshift insertion	TMPRSS7:NM_001042575:exon16:c.2053dupA:p.S685Kfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2101.94	116	chr3	112080982	.	T	TA	2101.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=827;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=1.03;SOR=0.586	GT:AD:DP:GQ:PL	0/1:50,66:116:99:2116,0,1511	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	4/4:0,0,0,0,60,0:60:99:2501,2502,2503,2502,2503,2503,2502,2503,2503,2503,180,181,181,181,0,2502,2503,2503,2503,181,2503	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	4/4:0,0,0,0,60,0:60:99:2501,2502,2503,2502,2503,2503,2502,2503,2503,2503,180,181,181,181,0,2502,2503,2503,2503,181,2503	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	4/4:0,0,0,0,60,0:60:99:2501,2502,2503,2502,2503,2503,2502,2503,2503,2503,180,181,181,181,0,2502,2503,2503,2503,181,2503	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	4/4:0,0,0,0,60,0:60:99:2501,2502,2503,2502,2503,2503,2502,2503,2503,2503,180,181,181,181,0,2502,2503,2503,2503,181,2503	0	4	0	0
chr3	114068034	114068034	C	T	exonic	QTRT2	.	nonsynonymous SNV	QTRT2:NM_001256835:exon4:c.C340T:p.P114S	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.447	B	0.069	B	0.000	D	1.000	D	1.445	L	.	.	-0.946	T	0.128	T	0.247	2.484	14.27	6.17	2.941	2.199	14.957	0.157	0.00353435843214	0.0004	0.000199681	0.0001	9.61e-05	0	0	0	0.0002	0	0	0.0001423	22	154602	rs142830266	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	2.988e-05	0.0002	0	0	0	0.0002	0.0003	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0	0.0002	0	0	0	0	0.0003	0	0	0.271	0.16903	T	0.263	0.22828	T	0.447	0.36006	B	0.069	0.27757	B	0.000027	0.55875	D	0.161122	0.99048	0.81001	D	.	.	.	.	.	.	-1.98	0.55501	N	0.405	0.45426	-0.9457	0.41698	T	0.128	0.43666	T	9	0.114577055	0.21561	T	0.003534	0.08031	T	0.157	0.40909	.	.	0.42748209135	0.42367	0.3652289036496629	0.36436	0.199299692912	0.22328	0.435592651367	0.29974	T	0.030283	0.54024	T	-0.298674	0.08785	T	-0.360824	0.37959	T	0.0572103292983167	0.06723	T	0.846715	0.52677	T	0.10966766	0.25928	0.10435969	0.25061	0.10966766	0.25927	0.10435969	0.25061	-3.443	0.15642	T	.	.	0.094	0.14660	B	.;.;.;.	.;.;.;.	2.654029	0.34565	19.66	0.98998237711439585	0.50086	0.94973	0.62978	D	AEFGBI	0.540450	0.55701	D	-0.135346213610867	0.35861	2.06521	0.0481579419395865	0.41983	2.531524	0.99995846083825	0.48110	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	2.253000	0.42859	4.083000	0.41752	0.587000	0.30956	0.824000	0.30046	0.999000	0.35428	0.708000	0.34389	0.0:0.9326:0.0:0.0674	14.957	0.70771	581	0.69614	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1230.98	107	chr3	114068034	.	C	T	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.868;DP=809;ExcessHet=0.0000;FS=3.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.122;SOR=1.027	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1245,0,1462	20	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.771	P	0.383	B	0.026	N	1.000	N	1.61	L	0.81	T	-0.975	T	0.114	T	0.339	1.198	9.869	3.74	1.291	2.358	6.183	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	108.87	93	chr3	115676196	.	G	C	108.87	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.165e+00;DP=1834;ExcessHet=1.1607;FS=178.066;InbreedingCoeff=-0.1514;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.572;SOR=11.555	GT:AD:DP:GQ:PL	0/1:64,24:93:5:5,0,1340	15	0	5	1
chr3	119191045	119191045	A	G	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A409G:p.N137D,	.	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.99	D	0.86	P	0.000	D	0.997	D	1.5	L	-1.13	T	-0.790	T	0.015	T	0.388	4.436	23.6	5.55	2.112	4.906	14.525	0.394	.	0.0041	0.0395367	0.0169	0.0012	0.0039	0.1263	0.0011	0.0059	0.0132	0.0296	0.0159894	2472	154602	rs78761311	0.0095	0.0095	0.0089	0.0102	0.1233	0.0094	0.0093	0.1204	0.1192	0.0012	0.0039	0.0189	0.1233	0.0016	0.0206	0.0040	0.0146	0.0320	0.0096	0.0096	0.0087	0.0105	0.1273	0.0092	0.0090	0.1192	0.1160	0.0013	0.0132	0.0056	0.0205	0.1273	0.0008	0.0136	0.0050	0.0132	0.0416	0.551	0.33418	T	0.473	0.13328	T	0.99	0.63424	D	0.86	0.61233	P	0.000054	0.53742	D	0.130780	0.997379	0.43837	D	1.78	0.46185	L	-1.13	0.86815	T	-1.25	0.32791	N	0.484	0.51851	-0.7897	0.55747	T	0.015	0.05946	T	10	0.0016655028	0.00020	T	.	.	.	0.394	0.70924	.	.	.	.	0.8157807269029524	0.81534	0.0496078120372	0.05439	0.483811795712	0.36581	T	0.123975	0.46565	T	-0.3391	0.05451	T	-0.152749	0.59000	T	0.0293694875918715	0.01894	T	0.756624	0.37993	T	0.18363465	0.39641	0.23165466	0.48303	0.18363465	0.39640	0.23165466	0.48302	-3.313	0.13906	T	.	.	0.108	0.26886	B	.;.;.;.;.	.;.;.;.;.	3.760625	0.53956	23.4	0.99692084973768502	0.79977	0.95921	0.66730	D	AEFBI	0.639388	0.61746	D	0.422289372913453	0.62648	4.48438	0.4541350233731	0.64982	4.766575	0.999999992247945	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	4.935000	0.63199	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.525	0.67467	366	0.84579	.;.;.;.;.	.	.	.	.	rs78761311	Uncertain significance	0	0	0	0	0	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	2445.11	112	chr3	119191045	.	A	G	2445.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.565e+00;DP=894;ExcessHet=0.1072;FS=0.473;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=1.28;SOR=0.648	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1145,0,1410	19	0	2	0
chr3	121487913	121487913	G	A	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon16:c.C5018T:p.T1673I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.002	B	0.371	N	1.000	N	0.805	L	0.81	T	-1.053	T	0.075	T	0.034	-0.373	2.246	-2.77	-0.446	-0.678	2.369	0.039	0.0146790804662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	1.368e-06	1.37e-06	1.384e-06	1.805e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.09927	T	0.138	0.33780	T	0.002	0.09854	B	0.002	0.06944	B	0.370944	0.04362	N	1.353580	1	0.08975	N	1.27	0.32069	L	0.81	0.48460	T	-0.68	0.19509	N	0.063	0.03502	-1.0527	0.13655	T	0.075	0.30086	T	10	0.07018611	0.10174	T	0.014679	0.34954	T	0.039	0.10176	0.23	0.15705	0.282575091529	0.27877	0.17041028566275843	0.16961	0.0757012635731	0.08499	0.216599524021	0.01123	T	0.028571	0.20668	T	-0.368764	0.03657	T	-0.767481	0.02852	T	0.0224064902320698	0.00954	T	0.433957	0.11861	T	0.029891912	0.02559	0.0275125	0.00910	0.029891912	0.02558	0.0275125	0.00910	-3.768	0.20327	T	0.10308168498915904	0.07908	0.102	0.17953	B	.;.	.;.	-0.814075	0.01079	0.048	0.90710819614450711	0.19961	0.01576	0.05139	N	AEFGBI	0.029562	0.02814	N	-1.04787393233879	0.07629	0.3550544	-1.09130711650266	0.07870	0.3846015	0.0200161316716789	0.13218	0.615465	0.37627	0	0.653731	0.59785	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.64	-2.77	0.05529	-1.142000	0.03314	-0.517000	0.08711	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.089000	0.17737	0.3465:0.0907:0.3791:0.1836	2.369	0.04061	274	0.89249	.;.	.	.	.	.	.	Uncertain significance	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	1645.98	115	chr3	121487913	.	G	A	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.770;DP=863;ExcessHet=0.0000;FS=0.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.112;SOR=0.786	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1660,0,1349	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	0/1:78,33:117:65:65,0,1327	3	0	14	4
chr3	123528394	123528394	C	T	exonic	HACD2	.	nonsynonymous SNV	HACD2:NM_001329786:exon3:c.G40A:p.V14I	.	.	429	1091	2	0	0	2	0.000915751	.	.	2353980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.613	P	0.172	B	0.000	D	1.000	D	0.585	N	1.56	T	-1.086	T	0.046	T	0.336	2.040	12.78	4.94	2.440	5.922	15.428	0.083	0.00753305947364	0.0002	.	0.0001	0.0001	0.0005	0	0	0.0001	0	0	9.06e-05	14	154602	rs202187144	0.0001	0.0001	0.0001	0.0002	0.0054	0.0001	0.0001	0.0039	0.0034	0.0001	0.0006	0	0	0	0.0054	0.0001	0.0003	4.653e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.173e-05	6.728e-05	0.0001	8.877e-05	4.828e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0002	0.575	0.08559	T	0.581	0.08476	T	0.613	0.39753	P	0.172	0.35394	B	0.000006	0.62929	D	0.062067	0.999996	0.58761	D	0.24	0.09707	N	1.56	0.29602	T	-0.31	0.12661	N	0.369	0.41063	-1.0860	0.06227	T	0.046	0.19720	T	10	0.07929033	0.12737	T	0.007533	0.19979	T	0.083	0.24192	.	.	0.0675242888579	0.06100	0.46724219308350895	0.46643	0.660611883695	0.58878	0.628473460674	0.56928	T	0.00759	0.06987	T	-0.376745	0.03266	T	-0.444795	0.28273	T	0.0279592877366871	0.01683	T	0.788221	0.46890	T	0.065478735	0.13998	0.07296085	0.15800	0.065478735	0.13998	0.07296085	0.15800	-6.566	0.50793	T	.	.	0.135	0.29339	B	.;.	.;.	3.547479	0.49856	22.8	0.97872424511323142	0.36540	0.72571	0.35516	D	AEFBHCI	0.641725	0.61896	D	0.128755976651392	0.47808	3.001382	0.271933121642397	0.53906	3.557516	0.999999966736717	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	5.805000	0.68809	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.428	0.74794	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	0	0	0	0	0.04762	2962.08	103	chr3	123528394	.	C	T	2962.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.76;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,103:103:99:2990,309,0	20	1	0	0
chr3	129408852	129408852	T	C	exonic	EFCAB12	.	nonsynonymous SNV	EFCAB12:NM_207307:exon6:c.A1042G:p.I348V,	.	.	430	1091	1	0	0	1	0.000458085	.	.	3441669	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.017	B	0.011	B	0.774	N	1.000	N	0.46	N	4.02	T	-0.893	T	0.006	T	0.079	0.687	7.672	-2.04	-0.377	-0.789	5.766	0.016	0.00537636822171	.	.	3.344e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs770510976	8.478e-06	8.209e-06	1.118e-05	5.717e-06	0.0002	4.52e-06	3.57e-06	4.14e-06	1.55e-06	0	0	0	0	0	0.0002	5.513e-06	5.108e-05	2.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.11514	T	0.744	0.04912	T	0.017	0.17573	B	0.011	0.15521	B	0.774071	0.09524	N	0.874550	1	0.08975	N	1.04	0.26193	L	4.02	0.03178	T	-0.33	0.12472	N	0.093	0.07262	-0.8927	0.48696	T	0.006	0.02206	T	10	0.045945823	0.03725	T	0.005376	0.13771	T	0.016	0.02506	0.181	0.08877	0.0716867268079	0.06686	0.061248493552112475	0.06064	0.0628155014901	0.06995	0.361789137125	0.19647	T	0.002804	0.02196	T	-0.450075	0.01128	T	-0.761734	0.03051	T	0.0161887045211994	0.00394	T	0.533147	0.17760	T	0.03001001	0.02591	0.028975792	0.01186	0.03001001	0.02590	0.028975792	0.01186	-3.126	0.11597	T	.	.	0.108	0.20313	B	.;.	.;.	-0.294394	0.02641	0.334	0.464825021729045	0.03726	0.02214	0.06449	N	AEFI	0.078015	0.15730	N	-1.21506327561668	0.04780	0.2165044	-1.25019364870402	0.05128	0.2436221	0.0241611880309818	0.13560	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.82	-2.04	0.06937	-0.663000	0.05398	-0.076000	0.12237	0.665000	0.62972	0.001000	0.13787	0.002000	0.18203	0.025000	0.12405	0.0:0.1724:0.4306:0.397	5.766	0.17496	439	0.80177	.;.	.	.	.	.	.	Uncertain significance	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	809.08	25	chr3	129408852	.	T	C	809.08	.	AC=2;AF=0.048;AN=42;DP=637;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.36;SOR=3.528	GT:AD:DP:GQ:PL	1/1:0,25:25:75:837,75,0	20	1	0	0
chr3	129880382	129880382	C	T	exonic	TMCC1	.	nonsynonymous SNV	TMCC1:NM_001349271:exon2:c.G131A:p.G44E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0010758	28	26028	rs189828511	.	3.817e-05	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0010	0.0011	0.0008	0.0015	0.0009	0.0008	0.0013	0.0012	0.0004	0	0.0005	0.0037	0	0	0.0068	0.0015	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3636.08	114	chr3	129880382	.	C	T	3636.08	.	AC=2;AF=0.048;AN=42;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.90;SOR=0.802	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3664,342,0	20	1	0	0
chr3	131669683	131669683	G	A	exonic	CPNE4	.	nonsynonymous SNV	CPNE4:NM_001289112:exon7:c.C727T:p.R243W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.967	D	0.717	P	0.000	D	0.997	D	1.665	L	1.05	T	-0.889	T	0.155	T	0.851	3.367	17.35	3.77	0.657	0.919	11.701	0.254	0.0184835758497	.	.	3.325e-05	0	0	0.0004	0	0	0	6.077e-05	3.23e-05	5	154602	rs774900370	1.99e-05	2.121e-05	2.048e-05	1.931e-05	0.0004	1.396e-05	1.207e-05	0.0002	0.0002	0	0	0	0.0004	0	0	9.013e-06	3.32e-05	3.515e-05	1.315e-05	1.313e-05	2.571e-05	0	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.58626	D	0.003	0.76473	D	0.967	0.56408	D	0.717	0.54739	P	0.000028	0.55875	D	0.157146	0.996525	0.43255	D	2.19	0.61577	M	1.05	0.39990	T	-2.79	0.59059	D	0.759	0.75834	-0.8891	0.49012	T	0.155	0.48670	T	10	0.68760407	0.71657	D	0.018484	0.40558	T	0.254	0.56428	0.644	0.78117	0.401208672323	0.39738	0.43545538180702575	0.43462	0.475146259266	0.46692	0.79273557663	0.80859	T	0.368199	0.73314	T	-0.0821481	0.39364	T	-0.0636277	0.66078	T	0.578229427337646	0.35550	D	0.984801	0.94749	D	0.17530163	0.38382	0.16661713	0.38482	0.17530163	0.38381	0.16661713	0.38482	-8.958	0.68670	D	.	.	0.219	0.44973	B	.;.;.;.;.;.	.;.;.;.;.;.	4.275636	0.65092	24.8	0.99914135896755196	0.98238	0.70065	0.34438	D	AEFBI	0.497160	0.53180	N	0.323319979134797	0.57346	3.901731	0.313956596982226	0.56360	3.799136	7.58350878974214E-5	0.04552	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.564101	0.26826	0	.	.	5.66	3.77	0.42499	1.150000	0.31250	2.708000	0.34213	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.5202:0.4798	11.701	0.50833	885	0.28214	C2 domain|C2 domain|C2 domain|Copine, C2B domain;.;C2 domain|C2 domain|C2 domain|Copine, C2B domain;.;C2 domain|C2 domain|C2 domain|Copine, C2B 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	6826.08	218	chr3	131669683	.	G	A	6826.08	.	AC=2;AF=0.048;AN=42;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.31;SOR=1.402	GT:AD:DP:GQ:PL	1/1:0,218:218:99:6854,653,0	20	1	0	0
chr3	186717715	186717715	G	A	exonic	KNG1	.	nonsynonymous SNV	KNG1:NM_000893:exon1:c.G173A:p.R58H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	0.017	N	0.920	D	2.39	M	1.6	T	-0.634	T	0.200	T	0.891	3.081	16.29	5.22	2.614	1.351	14.660	0.297	0.0415473796426	.	.	1.67e-05	0	0	0	0	3.053e-05	0	0	1.29e-05	2	154602	rs781268489	2.465e-05	2.531e-05	2.18e-05	2.753e-05	5.038e-05	1.805e-05	1.602e-05	1.999e-05	1.741e-05	0	0	0	5.038e-05	0	0	2.789e-05	3.314e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.57480	D	0.007	0.74150	D	1.0	0.90584	D	0.977	0.81110	D	0.016962	0.27840	N	0.180388	0.911949	0.36640	D	2.75	0.80375	M	1.6	0.28604	T	-3.31	0.67014	D	0.389	0.58458	-0.6339	0.63405	T	0.200	0.55541	T	10	0.6918235	0.71903	D	0.041547	0.59986	D	0.297	0.61730	0.687	0.82462	0.640709723699	0.63774	0.47091271083832464	0.47010	0.424832099764	0.42900	0.322512745857	0.13801	T	0.44934	0.79088	T	0.0489989	0.58214	T	0.0017353	0.70449	D	0.910855174064636	0.56622	D	0.940006	0.77317	D	0.1344912	0.31245	0.13819128	0.33010	0.1344912	0.31245	0.13819128	0.33009	-8.619	0.66681	D	.	.	0.142	0.31125	B	.;.;.;.;.	.;.;.;.;.	4.297697	0.65597	24.9	0.99913872321187125	0.98238	0.74708	0.36553	D	AEFDBI	.	.	.	0.507654482476868	0.67541	5.095437	0.417056574437163	0.62627	4.481328	0.999999914179463	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.22	5.22	0.72285	1.960000	0.40046	4.808000	0.45020	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.481000	0.28588	0.0:0.0:1.0:0.0	14.660	0.68467	940	0.13648	.;Cystatin domain|Kininogen-type cystatin domain|Cystatin domain|Cystatin domain;.;.;Cystatin domain|Kininogen-type cystatin domain|Cystatin domain|Cystatin 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	923.98	72	chr3	186717715	.	G	A	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.164e+00;DP=849;ExcessHet=0.0000;FS=1.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.293;SOR=0.504	GT:AD:DP:GQ:PL	0/1:37,35:72:99:938,0,1028	20	0	1	0
chr3	195724763	195724763	G	A	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G160A:p.A54T	.	.	624	882	15	1	0	17	0.0095452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.006	B	0.002	B	0.349	N	1.000	N	0.205	N	3.14	T	-0.973	T	0.012	T	0.044	0.193	5.038	-8.05	-2.462	-1.639	0.815	0.008	.	.	.	0.0233	0	0	0	.	0.0357	0	0.05	0.0003074	8	26028	rs775202820	0.0114	0.0098	0.0109	0.0118	0.0198	0.0111	0.0110	0.0188	0.0184	0.0015	0.0027	0.0193	9.239e-05	0.0096	0.0160	0.0122	0.0102	0.0198	0.0047	0.0068	0.0050	0.0044	0.0071	0.0043	0.0042	0.0064	0.0061	0.0013	0.0018	0.0029	0.0145	0	0.0054	0	0.0071	0.0042	0.0040	0.656	0.08237	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.348811	0.04232	N	1.519900	1	0.19072	N	0.55	0.14455	N	2.97	0.13673	T	0.12	0.07008	N	0.017	0.01347	-0.9730	0.36562	T	0.012	0.04510	T	10	0.0033717155	0.00059	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.06336625831601786	0.06275	.	.	0.208039224148	0.00730	T	0.001548	0.07080	T	-0.42744	0.01536	T	-0.851764	0.00938	T	2.32968649078946e-05	0.00000	T	0.419058	0.11093	T	0.03023063	0.02650	0.047634337	0.06905	0.03023063	0.02649	0.047634337	0.06905	-3.439	0.15587	T	.	.	0.148	0.32780	B	.;.;.;.	.;.;.;.	-0.125449	0.03493	0.655	0.76233360432774233	0.11386	0.00438	0.02140	N	AEFDI	0.030502	0.03083	N	-2.28448563316595	0.00049	0.002117648	-2.34791405332045	0.00052	0.002280591	0.998763131798839	0.37623	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.02	-8.05	0.00976	-1.603000	0.02181	-2.292000	0.03941	-1.754000	0.00685	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4327:0.1326:0.1931:0.2416	0.815	0.01030	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	1	0	0	0	0.025	215.42	19	chr3	195724763	.	G	A	215.42	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.83;DP=269;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0307;MLEAC=1;MLEAF=0.025;MQ=27.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.02;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,9:19:99:1|0:195724720_C_T:229,0,271:195724720	19	0	1	1
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	0/1:184,93,3:280:99:.:.:2671,0,7633,3150,5635,8405	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	1/1:0,215,0:215:99:.:.:6685,643,0,6685,643,6685	0	7	0	8
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:368,0,99:467:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:2998,4106,19388,0,15283,14930:195780016	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:368,0,99:467:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:2998,4106,19388,0,15283,14930:195780016	5	0	1	7
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	0/1:146,260,0:406:99:.:.:9771,0,5279,5701,6047,11016	6	1	7	1
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:285,119,0:404:99:.:.:2437,0,9825,3293,10179,13472	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	0/1:155,299,0:454:99:.:.:11145,0,5412,11611,6279,17890	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	0/1:156,295,0:451:99:.:.:10923,0,5422,11392,6275,17667	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|1:432,66,0:498:99:0|1:195781128_A_T:1433,0,17891,2733,18090,20823:195781128	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|2:427,0,54:481:99:0|1:195781128_A_T:966,2251,20129,0,17879,17716:195781128	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|2:427,0,54:481:99:0|1:195781128_A_T:966,2251,20129,0,17879,17716:195781128	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|1:422,50,0:472:99:0|1:195781128_A_T:806,0,17518,2076,17669,19745:195781128	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	0/1:387,123,0:510:99:3626,0,15036,4802,15405,20207	7	0	12	1
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:495,61,0:556:99:.:.:1019,0,20316,2634,19933,23131	6	0	10	3
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:495,0,61:556:99:.:.:1019,2634,23131,0,19933,20316	5	0	1	5
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:495,61,0:556:99:.:.:1019,0,20316,2634,19933,23131	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:495,61,0:556:99:.:.:1019,0,20316,2634,19933,23131	6	1	10	3
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:495,0,61:556:99:.:.:1019,2634,23131,0,19933,20316	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:495,61,0,0:556:99:.:.:1019,0,20316,2634,19933,23131,2634,19933,23131,23131	5	0	7	6
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,61,0,0:404:99:0|1:195781591_T_*:1364,0,15419,2382,14323,16744,2491,15029,16831,17438:195781591	5	0	9	4
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,61,0:381:99:0|1:195781591_T_*:1469,0,13973,2424,13207,15637:195781591	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,61,0:381:99:0|1:195781591_T_*:1469,0,13973,2424,13207,15637:195781591	7	0	9	4
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:208,61,133:402:99:.:.:5189,3108,12552,0,5970,7936	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	0/1:208,133,0:402:99:.:.:5189,0,7936,5870,8476,14843	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	0/2:208,0,133:402:99:.:.:5189,5870,14843,0,8476,7936	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	0/2:208,0,133:402:99:.:.:5189,5870,14843,0,8476,7936	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	0/2:208,0,133:402:99:.:.:5189,5870,14843,0,8476,7936	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	0/2:208,0,133:402:99:.:.:5189,5870,14843,0,8476,7936	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	0/2:208,0,133:402:99:.:.:5189,5870,14843,0,8476,7936	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	0/1:208,133,0:402:99:.:.:5189,0,7936,5870,8476,14843	4	1	4	11
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	0/2:127,0,108:235:99:.:.:2028,2413,7595,0,5182,4948	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	0/2:127,0,108:235:99:.:.:2028,2413,7595,0,5182,4948	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	0/2:127,0,108:235:99:.:.:2028,2413,7595,0,5182,4948	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	0/2:127,0,108:235:99:.:.:2028,2413,7595,0,5182,4948	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	0/2:127,0,108:235:99:.:.:2028,2413,7595,0,5182,4948	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	0/2:209,187,246:642:99:.:.:6592,301,5185,0,791,9862	5	1	5	6
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	0/2:161,246,205:612:99:5014,774,14991,0,189,4357	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	0/1:224,357,0:581:99:.:.:10632,0,4987,9820,6257,16970	0	2	6	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	0/2:422,0,96:518:99:.:.:881,2452,22019,0,16610,18912	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	0/1:421,96,4:521:99:.:.:862,0,19095,2364,14151,18811	6	0	5	7
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|2:373,0,96:469:99:0|1:195783038_G_*:926,2401,19414,0,17330,19337:195783038	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|2:372,0,96:468:99:0|1:195783038_G_*:944,2401,19286,0,17184,19085:195783038	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	0/1:419,151,5:575:13:.:.:1006,0,19111,13,13898,19430	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	0/1:177,190,105:472:99:.:.:6477,0,9749,4514,4698,11625	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|1:374,105,0:479:99:0|1:195783038_G_*:3814,0,14405,2631,14802,18022:195783038	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	0/1:187,190,105:482:99:.:.:9477,0,6732,4852,4787,12199	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|2:393,0,113:506:99:0|1:195783038_G_*:3775,3931,19798,0,15619,14996:195783038	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|2:393,0,113:506:99:0|1:195783038_G_*:3775,3931,19798,0,15619,14996:195783038	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|1:393,113,0:506:99:0|1:195783038_G_*:3775,0,14996,3931,15619,19798:195783038	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|2:521,0,5:526:76:0|1:195783038_G_*:917,76,18747,0,18374,19390:195783038	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|2:521,0,5:526:76:0|1:195783038_G_*:917,76,18747,0,18374,19390:195783038	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	0/1:276,109,0:385:99:.:.:3766,0,11242,4767,11741,17449	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|1:292,102,0:394:99:0|1:195783836_T_G:3436,0,11924,4315,12261,16576:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:142,102,119,0,0:363:99:.:.:7920,339,7786,0,1481,5321,6747,7436,6088,13389,6747,7436,6088,13389,13389	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|1:294,152,0:446:99:0|1:195783891_G_A:5018,0,11700,5902,12157,18059:195783891	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	0/1:300,159,0:459:99:.:.:5673,0,11459,6574,11937,18512	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|1:217,146,0:363:99:0|1:195784652_C_G:5198,0,8326,5850,8765,14615:195784652	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|1:219,151,0:370:99:0|1:195784652_C_G:5336,0,8339,5995,8793,14788:195784652	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|2:218,0,151:369:99:0|1:195784652_C_G:5339,5995,14761,0,8766,8312:195784652	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	0/1:225,276,0:501:99:.:.:6862,0,5788,7535,6615,14150	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	1/1:0,740,0:740:99:.:.:24719,2219,0,24152,2238,26274	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	1/1:0,754,0:754:99:.:.:25305,2261,0,26477,2315,30000	0	15	5	0
chr3	195786670	195786670	-	TGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.4909_4910insGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCA:p.T1636_N1637insSPSSASTGHATPLPVT	.	.	422	1036	34	8	22	72	0.0235627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0004	0.0020	0.0059	0	0.0009	0	0.0003	3.84e-05	1	26028	.	0.0025	0.0082	0.0023	0.0027	0.0528	0.0024	0.0024	0.0502	0.0491	0.0008	0.0039	0.0075	0.0528	0.0022	0.0021	0.0011	0.0037	0.0048	0.0039	0.0067	0.0034	0.0043	0.0358	0.0035	0.0034	0.0295	0.0271	0.0010	0	0.0085	0.0060	0.0358	0.0045	0	0.0027	0.0069	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2848.29	442	chr3	195786670	.	T	TTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGC	2848.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.294;DP=9009;ExcessHet=0.0000;FS=5.401;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.48;MQRankSum=-1.393e+01;QD=6.44;ReadPosRankSum=0.536;SOR=1.025	GT:AD:DP:GQ:PL	0/1:354,88:442:99:2862,0,14476	19	0	1	1
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|1:14,10,0:24:99:0|1:195787233_T_A:378,0,515,420,545,965:195787233	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:13,0,6:19:99:0|1:195787233_T_A:202,241,770,0,528,510:195787233	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:125,0,20:147:99:0|1:195787568_ATGCTG_*:799,1092,6322,0,5217,5116:195787568	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:125,0,20:147:99:0|1:195787568_ATGCTG_*:799,1092,6322,0,5217,5116:195787568	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:125,0,20:147:99:0|1:195787568_ATGCTG_*:799,1092,6322,0,5217,5116:195787568	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:125,0,20:147:99:0|1:195787568_ATGCTG_*:799,1092,6322,0,5217,5116:195787568	5	1	0	6
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5,0:24:99:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:153,0,754,211,770,981:195787857	6	0	1	4
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	P	0.483	P	.	.	1.000	N	0.55	N	1.56	T	-1.063	T	0.045	T	0.178	0.458	6.489	.	-1.696	-0.727	5.179	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,5:24:99:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:153,211,981,0,770,754:195787857	11	0	2	5
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,5:24:99:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:153,211,981,0,770,754:195787857	11	0	2	5
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,5:24:99:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:153,211,981,0,770,754:195787857	4	3	6	6
chr3	195787867	195787867	-	CATC	exonic	MUC4	.	stopgain	MUC4:NM_018406:exon2:c.3712_3713insGATG:p.P1238Rfs*41	.	.	681	826	12	2	1	17	0.00959233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.935e-05	0.0010	4.972e-05	0.0001	0.0002	5.977e-05	5.261e-05	0.0001	8.347e-05	9.055e-05	7.944e-05	0	0.0002	6.932e-05	0	5.024e-05	0.0002	0.0002	0	9.717e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	179.75	24	chr3	195787867	.	G	GCATC,*	179.75	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.57;DP=317;ExcessHet=0.1190;FS=7.531;InbreedingCoeff=-0.1062;MLEAC=1,1;MLEAF=0.029,0.029;MQ=37.04;MQRankSum=-1.910e-01;QD=5.14;ReadPosRankSum=-1.225e+00;SOR=2.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,5:24:99:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:153,211,981,0,770,754:195787857	15	0	1	4
chr3	195787867	195787867	G	0	exonic	MUC4	.	.	.	.	.	681	826	12	2	1	17	0.00959233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	179.75	24	chr3	195787867	.	G	GCATC,*	179.75	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.57;DP=317;ExcessHet=0.1190;FS=7.531;InbreedingCoeff=-0.1062;MLEAC=1,1;MLEAF=0.029,0.029;MQ=37.04;MQRankSum=-1.910e-01;QD=5.14;ReadPosRankSum=-1.225e+00;SOR=2.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,5:24:99:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:153,211,981,0,770,754:195787857	15	0	1	4
chr3	195787871	195787871	T	0	exonic	MUC4	.	.	.	.	.	729	783	3	6	1	16	0.00948767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	62.06	24	chr3	195787871	.	T	*,C	62.06	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=0.228;DP=321;ExcessHet=0.1336;FS=5.195;InbreedingCoeff=-0.1159;MLEAC=1,1;MLEAF=0.031,0.031;MQ=34.40;MQRankSum=0.208;QD=1.41;ReadPosRankSum=-3.100e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5,0:24:99:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:153,0,754,211,770,981:195787857	14	0	1	5
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5,0:24:99:0|1:195787857_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:153,0,754,211,770,981:195787857	4	0	1	4
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:657,0,112:769:99:0|1:195788077_G_A:1794,3802,24141,0,21165,26333:195788077	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|1:657,112,0:769:99:0|1:195788077_G_A:1794,0,26333,3802,21165,24141:195788077	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|2:657,0,112:769:99:0|1:195788077_G_A:1794,3802,24141,0,21165,26333:195788077	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|2:657,0,112:769:99:0|1:195788077_G_A:1794,3802,24141,0,21165,26333:195788077	8	0	6	5
chr3	195788174	195788174	-	GGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3405_3406insCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACC:p.T1135_S1136insPLPVTDTSSASTGHAT	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.555e-05	0.0009	0	0	0	0	0	0	.	.	.	rs771837975	2.281e-05	3.548e-05	2.724e-05	1.804e-05	0.0009	1.466e-05	1.244e-05	0.0005	0.0004	0.0009	0.0002	0	0	0	0	0	9.08e-05	2.878e-05	0.0006	0.0007	0.0009	0.0003	0.0030	0.0003	0.0002	0.0016	0.0012	0.0030	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:657,0,0,112:769:99:0|1:195788077_G_A:1794,3802,24141,3802,24141,24141,0,21165,21165,26333:195788077	12	0	1	5
chr3	195788174	195788174	A	0	exonic	MUC4	.	.	.	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:657,0,0,112:769:99:0|1:195788077_G_A:1794,3802,24141,3802,24141,24141,0,21165,21165,26333:195788077	12	0	1	5
chr3	195788251	195788251	G	0	exonic	MUC4	.	.	.	.	.	489	878	72	7	76	162	0.0466884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	14334.43	769	chr3	195788251	.	G	C,*	14334.43	.	AC=2,1;AF=0.059,0.029;AN=34;BaseQRankSum=-1.805e+00;DP=7394;ExcessHet=0.3892;FS=1.795;InbreedingCoeff=0.1217;MLEAC=2,1;MLEAF=0.059,0.029;MQ=58.66;MQRankSum=1.54;QD=8.37;ReadPosRankSum=-1.017e+00;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:657,0,112:769:99:0|1:195788077_G_A:1794,3802,24141,0,21165,26333:195788077	14	0	2	4
chr3	197003946	197003946	C	G	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon15:c.G2092C:p.V698L,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.007	B	0.019	B	0.001	N	1.000	D	0.11	N	2.63	T	-1.007	T	0.010	T	0.111	2.120	13.04	3.83	0.727	0.554	5.175	0.045	0.00538293912762	0.0010	0.00179712	0.0004	0.0040	0.0005	0	0	0	0	0	0.0003687	57	154602	rs148977686	0.0001	0.0001	0.0001	0.0001	0.0032	0.0001	9.701e-05	0.0027	0.0025	0.0032	0.0006	0	0	0	0.0002	1.799e-06	0.0004	9.275e-05	0.0012	0.0012	0.0013	0.0012	0.0040	0.0011	0.0010	0.0035	0.0033	0.0040	0	0.0012	0	0	0	0	1.47e-05	0.0014	0	0.328	0.13219	T	0.38	0.15988	T	0.007	0.14184	B	0.019	0.18783	B	0.001340	0.39379	N	0.269079	0.590611	0.31023	N	0.46	0.12951	N	2.63	0.12884	T	-1.03	0.27052	N	0.183	0.19861	-1.0067	0.27943	T	0.010	0.03673	T	10	0.0050616562	0.00109	T	0.005383	0.13801	T	0.045	0.12272	0.563	0.68364	0.134241683229	0.13084	0.5015848808143132	0.50080	0.205735905422	0.22999	0.563387155533	0.47745	T	0.038661	0.24916	T	-0.624871	0.00103	T	-0.670505	0.07577	T	0.00929418853884423	0.00118	T	0.779322	0.41328	T	0.15397328	0.34874	0.084794596	0.19532	0.15397328	0.34874	0.084794596	0.19532	-3.723	0.19658	T	.	.	0.109	0.20702	B	.	.	1.497174	0.19252	14.17	0.9559062949913022	0.27312	0.74845	0.36624	D	ALL	0.352440	0.44520	N	-0.584033332860683	0.19429	1.016811	-0.366542966408597	0.26001	1.433479	0.999999999917502	0.74766	0.685219	0.55550	0	0.52208	0.09955	0	0.674405	0.61402	0	0.56751	0.32155	0	.	.	5.62	3.83	0.43287	0.283000	0.18605	0.427000	0.18283	0.599000	0.40250	0.994000	0.38300	0.005000	0.19230	0.910000	0.44547	0.1649:0.6635:0.0:0.1716	5.175	0.14456	678	0.60190	Transferrin-like domain|Transferrin-like domain|Transferrin-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	937.98	82	chr3	197003946	.	C	G	937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.230;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.591e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:42,40:82:99:952,0,1038	20	0	1	0
chr4	271406	271406	A	C	exonic	ZNF732	.	stopgain	ZNF732:NM_001137608:exon4:c.T1451G:p.L484X,	.	.	404	1084	24	1	9	35	0.0118505	.	.	3226488	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.940	8.833	-0.708	-0.820	-3.671	1.39	.	.	.	0.00339457	0.0029	0.0001	0.0016	0	0.0002	0.0013	0.0016	0.0123	0.0018434	285	154602	rs201614981	0.0010	0.0012	0.0008	0.0013	0.0091	0.0010	0.0010	0.0081	0.0079	0.0001	0.0003	0.0033	0	5.673e-05	0.0091	0.0005	0.0015	0.0086	0.0006	0.0009	0.0005	0.0007	0.0057	0.0005	0.0005	0.0039	0.0033	0.0001	0	0.0003	0.0031	0	0	0.0092	0.0006	0.0011	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.012	0.00125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.04705	0.44894	T	0.164626	0.81088	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	4.302147	0.65697	24.9	0.91691167450629085	0.20983	0.00005	0.00104	N	AEFBCI	0.015142	0.00275	N	-0.564371121544503	0.20035	1.053224	-1.03427728681279	0.09038	0.4474421	0.00118406226132509	0.08314	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	0.354	-0.708	0.10675	-5.919000	0.00110	.	.	-1.776000	0.00658	0.000000	0.06391	.	.	0.000000	0.00833	0.3417:0.0:0.3148:0.3435	1.39	0.02113	958	0.09170	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	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	400.98	67	chr4	271406	.	A	C	400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=842;ExcessHet=0.0000;FS=4.095;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=-1.750e+00;QD=5.98;ReadPosRankSum=-1.115e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,16:67:99:0|1:271406_A_C:415,0,1956:271406	20	0	1	0
chr4	271433	271433	C	T	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.G1424A:p.R475K,	.	.	405	1089	18	1	9	29	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.5	N	2.6	T	-0.980	T	0.006	T	0.221	-1.931	0.008	-1.95	-0.826	-1.600	0.084	0.060	0.000961781392394	.	.	0.0001	0	0	0	0	2.303e-05	0	0.0006	5.17e-05	8	154602	rs374403050	6.146e-05	0.0007	3.155e-05	9.178e-05	0.0009	5.075e-05	4.716e-05	0.0004	0.0004	3.012e-05	2.336e-05	0.0002	0	0	0.0009	2.171e-05	0.0001	0.0005	0.0001	0.0004	0.0001	0.0001	0.0011	8.317e-05	6.848e-05	0.0004	0.0003	2.461e-05	0	0.0001	0	0	0	0.0037	0.0001	0	0.0011	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.81	0.01558	N	2.6	0.13204	T	2.5	0.00234	N	0.03	0.00717	-0.9802	0.34955	T	0.006	0.02131	T	9	0.02215287	0.00546	T	9.62E-4	0.00980	T	0.060	0.17295	.	.	0.0138822411134	0.00435	0.012645996031793793	0.01223	0.00525268096969	0.00466	0.225211679935	0.01633	T	0.00146	0.00916	T	-0.581619	0.00188	T	-0.723801	0.04614	T	0.0225976975388551	0.00976	T	0.00909909	0.00045	T	0.02746189	0.01942	0.032192603	0.01918	0.02746189	0.01942	0.032192603	0.01918	-0.488	0.00576	T	.	.	0.074	0.05188	B	.;.	.;.	-1.694881	0.00197	0.003	0.44969411326617498	0.03496	0.00007	0.00120	N	AEFBCI	0.014611	0.00240	N	-1.91823074996728	0.00315	0.01352591	-1.90989752353302	0.00468	0.02072324	4.07066924592212E-4	0.06860	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	0.977	-1.95	0.07135	-2.981000	0.00727	.	.	-1.657000	0.00818	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.2404:0.2319:0.2403:0.2874	0.084	0.00031	958	0.09170	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	159.98	61	chr4	271433	.	C	T	159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=835;ExcessHet=0.0000;FS=1.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.66;MQRankSum=-2.525e+00;QD=2.62;ReadPosRankSum=-3.272e+00;SOR=0.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,8:61:99:0|1:271406_A_C:174,0,2181:271406	20	0	1	0
chr4	271437	271437	A	G	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.T1420C:p.Y474H,	.	.	396	1100	14	1	11	27	0.00722022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.996	D	0.913	D	.	.	0.998	N	0.77	N	1.99	T	-1.065	T	0.061	T	0.141	2.103	12.99	0.977	0.338	2.026	5.732	0.079	0.00150168128592	.	.	8.666e-05	0	0	0	0	2.27e-05	0	0.0005	.	.	.	rs781922657	2.691e-05	0.0006	8.225e-06	4.584e-05	0.0004	2.015e-05	1.769e-05	0.0002	0.0002	0	2.326e-05	7.803e-05	0	0	0.0004	7.231e-06	3.34e-05	0.0003	7.929e-05	0.0003	9.042e-05	6.763e-05	0.0004	4.52e-05	3.53e-05	7.488e-05	3.35e-05	0	0	0.0001	0.0003	0	0	0	0.0001	0	0.0004	0.029	0.45756	D	0.058	0.46182	T	0.996	0.68779	D	0.913	0.64886	D	.	.	.	.	0.998474	0.22131	N	1.26	0.31868	L	1.99	0.21666	T	-4.34	0.76822	D	0.172	0.18376	-1.0648	0.10596	T	0.061	0.25528	T	9	0.09361702	0.16583	T	0.001502	0.02318	T	0.079	0.23065	.	.	0.0401082797425	0.02173	0.02592215460062857	0.02543	0.00655855936216	0.00574	0.309396147728	0.11816	T	0.05521	0.29943	T	-0.244394	0.14794	T	-0.588832	0.13767	T	0.251482155534244	0.22939	T	0.679032	0.28770	T	0.12090002	0.28441	0.10232704	0.24522	0.12090002	0.28441	0.10232704	0.24522	-6.625	0.51244	T	.	.	0.383	0.58843	A	.;.	.;.	1.776610	0.22588	15.68	0.99342460835587676	0.60251	0.00107	0.00683	N	AEFBCI	0.032061	0.03548	N	-0.38852001634399	0.25877	1.40801	-0.630956480852967	0.18699	1.000103	0.00111409298172605	0.08239	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	0.977	0.977	0.18853	2.065000	0.41068	.	.	0.384000	0.20435	0.004000	0.16614	0.003000	0.18671	0.005000	0.06747	1.0:0.0:0.0:0.0	5.732	0.17314	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	35.98	58	chr4	271437	.	A	G	35.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.64;MQRankSum=-3.194e+00;QD=0.62;ReadPosRankSum=-2.744e+00;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,5:58:50:0|1:271406_A_C:50,0,2210:271406	20	0	1	0
chr4	1353161	1353161	C	T	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon5:c.C682T:p.R228C	UV-sensitive syndrome 3, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	3348684	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.143	B	0.001	B	0.001	N	1.000	N	-1.1	N	1.46	T	-1.029	T	0.022	T	0.119	0.784	8.134	-5.46	-2.966	-0.546	2.002	0.027	0.00241278864434	7.7e-05	0.000399361	0.0001	0	0	0.0004	0	0	0	0.0007	0.00011	17	154602	rs148799777	8.147e-05	8.14e-05	6.948e-05	9.359e-05	0.0007	6.94e-05	6.492e-05	0.0005	0.0005	5.974e-05	2.236e-05	0	0.0007	0	0	2.878e-05	4.969e-05	0.0006	6.563e-05	6.561e-05	6.421e-05	6.711e-05	0.0006	3.513e-05	2.613e-05	0.0002	8.996e-05	4.809e-05	0	0	0	0.0006	0	0	2.94e-05	0	0.0006	0.201	0.20306	T	0.086	0.40909	T	0.143	0.27649	B	0.001	0.04355	B	0.000780	0.00685	N	13.948400	1	0.08975	N	-1.1	0.00987	N	1.46	0.32238	T	0.03	0.06612	N	0.118	0.10769	-1.0288	0.20843	T	0.022	0.09284	T	10	0.011076987	0.00244	T	0.002413	0.04729	T	0.027	0.05988	.	.	0.0401082797425	0.02173	0.12945316351371028	0.12870	0.0158928069181	0.01516	0.26249229908	0.05190	T	0.013159	0.11431	T	-0.59925	0.00147	T	-0.722712	0.04666	T	0.0148329291967063	0.00313	T	0.459554	0.13284	T	0.02256554	0.00928	0.02446993	0.00467	0.035620913	0.04226	0.024876708	0.00515	-4.14	0.25877	T	.	.	0.068	0.02797	B	.;.;.	.;.;.	0.510644	0.08794	5.572	0.82927630832110855	0.14449	0.01247	0.04392	N	AEFDBI	0.021942	0.01037	N	-1.94673286640403	0.00275	0.01177799	-2.02036070107632	0.00277	0.01223784	0.999914520133142	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.73	-5.46	0.02404	-0.528000	0.06280	-3.577000	0.02683	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1266:0.1683:0.3843:0.3208	2.002	0.03258	796	0.45353	.;.;.	.	.	.	.	.	Uncertain significance	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	3286.98	277	chr4	1353161	.	C	T	3286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=1010;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-6.730e-01;SOR=0.718	GT:AD:DP:GQ:PL	0/1:143,134:277:99:3301,0,3029	20	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.076	16.27	5.94	2.820	8.776	19.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	531.26	142	chr4	2662992	.	G	C	531.26	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.826e+00;DP=2064;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.827;SOR=11.598	GT:AD:DP:GQ:PL	0/1:93,41:142:99:204,0,1604	11	0	6	4
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	0/1:41,57:98:99:1572,0,966	19	0	2	0
chr4	2932391	2932391	A	G	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon5:c.T653C:p.I218T	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.237	B	0.292	B	0.000	D	1.000	D	1.735	L	0.36	T	-0.763	T	0.183	T	0.514	3.517	17.97	4.41	1.849	5.646	12.746	0.184	0.0299553150878	0.0015	0.000599042	0.0020	0.0004	0.0004	0	0.0004	0.0033	0.0012	0.0004	0.0020763	321	154602	rs146978897	0.0027	0.0027	0.0027	0.0027	0.0034	0.0027	0.0026	0.0033	0.0032	0.0006	0.0005	0.0003	0	0.0004	0.0010	0.0034	0.0022	0.0004	0.0019	0.0019	0.0019	0.0019	0.0031	0.0017	0.0017	0.0027	0.0026	0.0006	0.0537	0.0004	0	0	9.42e-05	0	0.0031	0.0005	0.0002	0.076	0.40832	T	0.013	0.63109	D	0.237	0.30795	B	0.292	0.40739	B	0.000214	0.47681	D	0.214007	0.999998	0.58761	D	1.65	0.42232	L	0.36	0.57880	T	-3.56	0.71639	D	0.662	0.70527	-0.7633	0.57226	T	0.183	0.53194	T	10	0.008955151	0.00203	T	0.029955	0.52367	D	0.184	0.45763	.	.	0.478905595755	0.47518	0.6563920335887649	0.65575	0.0398385821601	0.04256	0.419799029827	0.27808	T	0.41007	0.80565	T	-0.31173	0.07597	T	-0.216829	0.53041	T	0.0386092120555743	0.03441	T	0.924208	0.72277	D	0.47656068	0.65691	0.29334262	0.55362	0.47656068	0.65692	0.29334262	0.55362	-9.708	0.72145	D	.	.	0.496	0.64993	A	.;.;.;.;.	.;.;.;.;.	3.719165	0.53136	23.3	0.99560241288367479	0.71707	0.85847	0.45027	D	AEFDGBCIJ	0.919692	0.89057	D	0.113643044707078	0.47099	2.940394	0.212761846686038	0.50556	3.246299	0.999999999997214	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	4.41	4.41	0.52588	7.162000	0.77088	7.864000	0.71599	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	12.746	0.56658	614	0.66605	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	869.98	78	chr4	2932391	.	A	G	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.480e-01;DP=799;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=2.42;SOR=0.540	GT:AD:DP:GQ:PL	0/1:43,35:78:99:884,0,1122	20	0	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|1:15,11:26:99:0|1:3074908_AGC_A:416,0,589:3074908	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|1:15,11:26:99:0|1:3074908_AGC_A:416,0,589:3074908	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|2:15,0,11:26:99:0|1:3074908_AGC_A:416,462,1084,0,622,589:3074908	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|3:15,0,0,11:26:99:0|1:3074908_AGC_A:416,462,1084,462,1084,1084,0,622,622,589:3074908	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	1|2:0,5,11:16:99:1|0:3074908_AGC_A:604,436,983,166,0,470:3074908	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	0/1:32,41:73:99:938,0,809	18	0	3	0
chr4	3473439	3473439	C	T	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001164673:exon3:c.C134T:p.S45L	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	0	1501	20	1	0	22	0.00727513	.	.	193758	not_provided|Fetal_akinesia_deformation_sequence_1|not_specified|Congenital_myasthenic_syndrome_10	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MedGen:CN169374|MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.382	B	0.064	B	0.204	N	1.000	N	1.43	L	-0.89	T	-0.958	T	0.187	T	0.323	1.485	10.91	2.82	0.727	1.561	11.748	0.175	0.0624901798016	0.0053	0.00199681	0.0052	0.0022	0.0014	0.0020	0.0006	0.0076	0.0046	0.0039	0.0050323	778	154602	rs62272670	0.0055	0.0055	0.0055	0.0055	0.0050	0.0054	0.0053	0.0049	0.0048	0.0017	0.0013	0.0503	0.0014	0.0012	0.0041	0.0050	0.0076	0.0050	0.0046	0.0046	0.0049	0.0044	0.0052	0.0044	0.0042	0.0048	0.0046	0.0020	0.0526	0.0008	0.0461	0.0031	0.0008	0	0.0052	0.0043	0.0031	0.668	0.05325	T	0.042	0.50226	D	0.382	0.34403	B	0.064	0.27215	B	0.204107	0.16526	N	0.579443	1	0.08975	N	1.5	0.37844	L	-0.89	0.74793	T	-3.6	0.69357	D	0.538	0.74371	-0.9580	0.39552	T	0.187	0.53691	T	10	0.0065547824	0.00149	T	0.06249	0.68670	D	0.175	0.44197	.	.	0.78300725631	0.78100	0.23450212601361356	0.23365	0.00535340168782	0.00472	0.495576709509	0.38211	T	0.433107	0.78065	T	-0.411266	0.01950	T	-0.358405	0.38238	T	0.0303045756909654	0.02036	T	0.865113	0.56350	D	0.115241185	0.27197	0.18905671	0.42231	0.110617764	0.26144	0.21030135	0.45410	-10.065	0.76680	D	0.5248874870876927	0.59660	0.114	0.22537	B	.;.	.;.	2.934284	0.38996	20.9	0.98852417109926549	0.47322	0.26343	0.22966	N	AEFDBIJ	0.172434	0.29947	N	-0.595213771903651	0.19089	0.9963593	-0.625632798723542	0.18835	1.007964	0.925807394480531	0.26828	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.7	2.82	0.32061	0.707000	0.25379	2.745000	0.34492	0.537000	0.25018	0.000000	0.06391	0.040000	0.21562	0.630000	0.32157	0.0:0.8124:0.1876:0.0	11.748	0.51097	889	0.27310	.;Pleckstrin homology domain|Pleckstrin homology domain|Dok-7, PH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2191.11	61	chr4	3473439	.	C	T	2191.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=848;ExcessHet=0.1072;FS=8.124;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.99;ReadPosRankSum=-6.860e-01;SOR=1.339	GT:AD:DP:GQ:PL	0/1:25,36:61:99:978,0,609	19	0	2	0
chr4	4302773	4302773	A	G	exonic	ZBTB49	.	nonsynonymous SNV	ZBTB49:NM_001330625:exon3:c.A937G:p.N313D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.911	D	0.011	N	1.000	D	2.255	M	2.75	T	-1.047	T	0.112	T	0.091	4.763	26.7	5.57	2.247	6.621	16.032	0.232	0.0150300786139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.029	0.54541	D	0.962	0.55554	D	0.687	0.53665	P	0.011477	0.29519	N	0.290039	0.999266	0.81001	D	2.75	0.80375	M	2.75	0.11622	T	-2.05	0.47008	N	0.355	0.39659	-1.0474	0.15130	T	0.112	0.40006	T	10	0.3653257	0.53054	T	0.01503	0.35522	T	0.232	0.53354	0.491	0.57732	0.505151966591	0.50154	0.18602022144209007	0.18520	0.649115808177	0.58234	0.510459184647	0.40288	T	0.010249	0.09270	T	-0.221937	0.17730	T	-0.556574	0.16700	T	0.975922226905823	0.71150	D	0.828517	0.49290	T	0.28373015	0.51403	0.44000277	0.67333	0.28373015	0.51403	0.44000277	0.67334	-8.62	0.65222	D	.	.	0.415	0.60378	A	.	.	3.486207	0.48708	22.7	0.99765237661056405	0.85417	0.99443	0.96093	D	AEFDBI	0.592022	0.58789	D	0.517689363150007	0.68135	5.175865	0.463322604695812	0.65576	4.841379	0.999999998801097	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.508809	0.08732	0	.	.	5.57	5.57	0.84021	6.841000	0.75168	11.122000	0.86574	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	16.032	0.80384	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1516.98	130	chr4	4302773	.	A	G	1516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e+00;DP=1409;ExcessHet=0.0000;FS=4.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=1.25;SOR=1.061	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1531,0,1891	20	0	1	0
chr4	5563024	5563024	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon22:c.G3511A:p.E1171K	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.84	P	0.129	B	0.150	N	1.000	N	0.895	L	-0.84	T	-0.918	T	0.178	T	0.279	2.303	13.66	2.29	0.545	1.321	7.199	0.102	0.0219637780548	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs769520928	2.736e-05	2.736e-05	1.361e-05	4.125e-05	0.0003	2.062e-05	1.816e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.529e-05	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.469e-05	0	0.0002	0.241	0.17643	T	0.101	0.38891	T	0.84	0.46486	P	0.129	0.32841	B	0.150072	0.17997	N	0.572654	1	0.08975	N	1.845	0.48678	L	-0.85	0.74371	T	-1.32	0.34795	N	0.197	0.21710	-0.9182	0.45797	T	0.178	0.52365	T	10	0.10088503	0.18399	T	0.021964	0.44807	T	0.102	0.29158	0.317	0.29419	0.695568829229	0.69294	0.12977325743877544	0.12902	0.0750409668972	0.08422	0.38676148653	0.23212	T	0.027367	0.20056	T	-0.266121	0.12194	T	-0.345741	0.39693	T	0.292006820440292	0.24673	T	0.70223	0.31206	T	0.043670982	0.06848	0.0638812	0.12719	0.043670982	0.06848	0.0638812	0.12719	-3.837	0.21358	T	.	.	0.084	0.09820	B	.;.	.;.	2.169246	0.27642	17.53	0.98693975072475137	0.44809	0.06904	0.12930	N	AEFDBI	0.088524	0.17946	N	-0.554289258456578	0.20349	1.072083	-0.587046486016439	0.19830	1.06573	1.89895771657727E-4	0.05844	0.651	0.46895	0	0.588015	0.36545	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.17	2.29	0.27658	1.713000	0.37570	0.321000	0.17185	-0.872000	0.02536	0.133000	0.23395	0.001000	0.17328	0.657000	0.32885	0.0:0.5817:0.3268:0.0916	7.199	0.25047	958	0.09170	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4023.98	346	chr4	5563024	.	C	T	4023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.016;DP=1039;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-6.300e-02;SOR=0.674	GT:AD:DP:GQ:PL	0/1:175,171:346:99:4038,0,3948	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	0/1:113,38:151:99:223,0,2642	0	0	21	0
chr4	8029661	8029661	C	T	exonic	ABLIM2	.	nonsynonymous SNV	ABLIM2:NM_001286688:exon7:c.G467A:p.R156H	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.002	N	1.000	N	2.6	M	0.84	T	-0.486	T	0.382	T	0.505	4.506	24.2	4.64	2.128	4.787	17.512	0.230	0.040815550353	8.4e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs377709298	9.672e-05	9.645e-05	9.384e-05	9.968e-05	0.0005	8.325e-05	7.771e-05	0.0001	8.859e-05	0	0	0	0	0	0.0005	0.0001	8.724e-05	8.98e-05	0.0001	0.0001	0.0002	6.806e-05	0.0002	7.155e-05	5.8e-05	5.85e-05	4.245e-05	2.439e-05	0.0066	6.595e-05	0	0	0	0	0.0001	0	0.0002	0.073	0.78490	T	0.009	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.001522	0.38731	N	0.199391	0.999889	0.50402	D	3.245	0.89746	M	0.84	0.54149	T	-4.35	0.81107	D	0.542	0.72120	-0.4858	0.69158	T	0.382	0.73862	T	10	0.25787663	0.43209	T	0.040816	0.59586	D	0.230	0.53062	.	.	0.537605644208	0.53412	0.5936082762595105	0.59290	0.353181267281	0.37131	0.807459354401	0.83103	D	0.254649	0.62533	T	-0.126444	0.32073	T	-0.193703	0.55242	T	0.916919708251953	0.57453	D	0.886911	0.93342	D	0.41349077	0.61656	0.32711694	0.58612	0.41349077	0.61656	0.32711694	0.58611	-10.035	0.78884	D	.	.	0.139	0.49028	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.486457	0.91438	32	0.99959618424726249	0.99994	0.93642	0.58778	D	AEFBI	0.822369	0.74271	D	0.700101232661928	0.79638	7.120269	0.635729409607025	0.77551	6.70142	0.999999998115371	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.64	4.64	0.57399	5.047000	0.64042	3.805000	0.39885	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.970000	0.54328	0.0:1.0:0.0:0.0	17.512	0.87658	988	0.01987	.;.;.;Putative adherens-junction anchoring domain;.;.;Putative adherens-junction anchoring domain;.;.;Putative adherens-junction anchoring domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	574.98	43	chr4	8029661	.	C	T	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.414;SOR=0.906	GT:AD:DP:GQ:PL	0/1:20,23:43:99:589,0,449	20	0	1	0
chr4	8233493	8233493	C	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon14:c.C3034A:p.L1012M	.	.	426	1063	30	3	0	36	0.0166512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.009	N	1.000	D	2.31	M	-1.06	T	0.031	D	0.482	T	0.472	2.773	15.24	2.52	1.846	3.280	11.389	0.562	.	0.0067	0.00359425	0.0063	0.0017	0.0062	0	0.0056	0.0080	0.0105	0.0052	0.0061254	947	154602	rs111285143	0.0075	0.0075	0.0076	0.0075	0.0182	0.0074	0.0074	0.0153	0.0142	0.0021	0.0064	0.0197	0	0.0033	0.0182	0.0081	0.0092	0.0042	0.0061	0.0061	0.0061	0.0061	0.0083	0.0058	0.0056	0.0077	0.0075	0.0017	0.0011	0.0083	0.0204	0	0.0048	0.0442	0.0083	0.0080	0.0037	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.009500	0.30337	N	0.214876	0.984639	0.40172	D	3.07	0.87108	M	-1.06	0.76819	T	-1.77	0.41809	N	0.562	0.58629	0.031	0.82878	D	0.482	0.80240	T	10	0.00982511	0.00221	T	.	.	.	0.562	0.82061	.	.	0.66790570697	0.66510	0.48965828362288266	0.48885	0.205887312537	0.23014	0.611424803734	0.54517	T	0.061114	0.31566	T	-0.247542	0.14401	T	-0.123508	0.61512	T	0.0373146239023212	0.03211	T	0.834417	0.50357	T	0.24364713	0.47305	0.19951475	0.43837	0.24364713	0.47305	0.19951475	0.43836	-8.123	0.61906	D	.	.	0.342	0.56011	A	.	.	3.625542	0.51325	23.1	0.99607614849214077	0.74575	0.85457	0.44591	D	AEFGBCI	0.562189	0.56988	D	0.462205096856012	0.64898	4.75514	0.345910970456002	0.58262	3.995731	0.999996743542569	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	3.49	2.52	0.29514	3.509000	0.53143	3.098000	0.36308	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.8912:0.0:0.1088	11.389	0.49045	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1628.98	94	chr4	8233493	.	C	A	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=784;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=1.06;SOR=0.852	GT:AD:DP:GQ:PL	0/1:35,59:94:99:1643,0,873	20	0	1	0
chr4	8614433	8614433	C	G	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon8:c.C1405G:p.P469A	.	.	427	1067	28	0	0	28	0.012951	.	.	3214362	CPZ-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.47	T	0.042	B	0.01	B	0.001	D	1.000	N	0.65	N	3.6	T	-0.994	T	0.014	T	0.615	0.252	5.362	4.75	2.178	0.082	6.247	0.228	0.00259388436412	0.0073	0.00299521	0.0051	0.0089	0.0045	0	0	0.0063	0.0066	0.0030	0.0048253	746	154602	rs144878756	0.0049	0.0049	0.0049	0.0049	0.0276	0.0048	0.0048	0.0241	0.0227	0.0101	0.0069	0.0251	0	0.0001	0.0276	0.0045	0.0062	0.0033	0.0067	0.0067	0.0069	0.0066	0.0104	0.0064	0.0062	0.0091	0.0086	0.0089	0	0.0104	0.0265	0	0	0.0476	0.0052	0.0090	0.0029	0.375	0.11882	T	0.514	0.10930	T	0.042	0.21471	B	0.01	0.14941	B	0.000602	0.42945	D	0.238755	1	0.08975	N	1.68	0.43186	L	3.6	0.04494	T	-4.04	0.75615	D	0.381	0.44570	-0.9944	0.31459	T	0.014	0.05561	T	10	0.010112196	0.00226	T	0.002594	0.05235	T	0.228	0.52768	.	.	0.466991082792	0.46324	0.5021876389927722	0.50140	0.00390315856912	0.00340	0.433511316776	0.29689	T	0.151591	0.49161	T	-0.472502	0.00820	T	-0.440462	0.28757	T	0.0101249365468774	0.00136	T	0.775922	0.40781	T	0.15195194	0.34517	0.12209534	0.29454	0.18366434	0.39645	0.12209534	0.29454	-5.791	0.46431	T	0.10332189919655888	0.07954	0.070	0.03443	B	.;.;.	.;.;.	1.263735	0.16619	12.66	0.92042564288634698	0.21384	0.10239	0.15801	N	AEFDBCI	0.205368	0.33172	N	-0.573136651120873	0.19764	1.036938	-0.46347791261759	0.23167	1.262043	0.0602294326409206	0.15190	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.75	4.75	0.59954	0.132000	0.15716	3.098000	0.36308	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.359000	0.25863	0.163:0.6972:0.0:0.1399	6.247	0.20033	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, 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	1645.98	165	chr4	8614433	.	C	G	1645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.790e-01;DP=3305;ExcessHet=0.0000;FS=0.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-6.540e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/1:91,74:165:99:1660,0,2286	20	0	1	0
chr4	15003544	15003544	G	T	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G871T:p.G291C	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0	N	0.44	T	-1.023	T	0.079	T	0.167	2.169	13.21	2.23	1.252	1.065	4.872	0.023	0.49066394509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	0.995894	0.23172	N	.	.	.	0.42	0.56937	T	-1.54	0.38345	N	0.196	0.27435	-1.0233	0.22638	T	0.079	0.31466	T	7	0.17611933	0.32579	T	0.490664	0.94993	D	0.023	0.04649	0.312	0.28612	0.250512400709	0.24649	0.40058756321903216	0.39973	0.338184895751	0.35792	0.868773818016	0.92392	D	.	.	.	-0.106782	0.35302	T	-0.391162	0.34415	T	0.843504011631012	0.49616	D	.	.	.	.	.	.	.	.	.	.	.	-6.052	0.47010	T	.	.	0.175	0.51592	B	.;.	.;.	3.542729	0.49765	22.8	0.99275153735101374	0.57696	0.25403	0.22688	N	AEFDBHCIJ	0.208079	0.33419	N	-0.253573131990415	0.30961	1.731397	-0.252200553237577	0.29695	1.665794	0.999999906504315	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	2.23	2.23	0.27189	1.453000	0.34778	6.976000	0.57108	0.465000	0.21702	0.006000	0.17386	1.000000	0.68203	0.949000	0.49496	0.1873:0.0:0.8127:0.0	4.872	0.12993	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	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	1500.98	88	chr4	15003544	.	G	T	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=897;ExcessHet=0.0000;FS=1.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.06;ReadPosRankSum=-8.430e-01;SOR=0.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,40:88:99:0|1:15003544_G_T:1515,0,1884:15003544	20	0	1	0
chr4	15003545	15003545	G	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G872A:p.G291D	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0	N	0.49	T	-0.980	T	0.094	T	0.275	2.388	13.94	2.23	1.252	1.022	10.066	0.039	0.428652719078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.465	0.28669	T	.	.	.	.	.	.	.	.	.	.	0.997591	0.22593	N	.	.	.	0.46	0.56281	T	-1.07	0.28703	N	0.137	0.22614	-0.9798	0.35048	T	0.094	0.35524	T	7	0.16893393	0.31473	T	0.428653	0.93937	D	0.039	0.10176	0.194	0.10571	0.372491666437	0.36864	0.4038894716943685	0.40304	0.411933081622	0.41941	0.877690434456	0.93648	D	.	.	.	-0.106938	0.35274	T	-0.391385	0.34390	T	0.707441031932831	0.41075	D	.	.	.	.	.	.	.	.	.	.	.	-4.767	0.34204	T	.	.	0.130	0.43517	B	.;.	.;.	3.250144	0.44406	21.9	0.99144971648526192	0.53655	0.19222	0.20576	N	AEFDBHCIJ	0.147924	0.27170	N	-0.247741181233483	0.31192	1.746676	-0.244493984650068	0.29962	1.682926	0.999999868095438	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	2.23	2.23	0.27189	0.406000	0.20754	5.920000	0.51151	0.465000	0.21702	0.002000	0.15269	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	10.066	0.41479	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	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	1500.98	88	chr4	15003545	.	G	A	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=901;ExcessHet=0.0000;FS=1.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.06;ReadPosRankSum=-6.190e-01;SOR=0.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,40:88:99:0|1:15003544_G_T:1515,0,1884:15003544	20	0	1	0
chr4	16226370	16226370	C	T	exonic	TAPT1	.	nonsynonymous SNV	TAPT1:NM_153365:exon1:c.G88A:p.E30K,	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.817	P	0.345	B	0.510	U	1.000	D	0.69	N	1.61	T	-1.118	T	0.047	T	0.261	1.781	11.91	3.4	1.441	0.229	11.682	0.044	0.087459002675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322095852	3.021e-05	2.531e-05	1.966e-05	4.21e-05	0.0013	2.119e-05	1.832e-05	0.0009	0.0008	0	0	0	0	0	0.0004	2.371e-06	5.721e-05	0.0013	3.366e-05	3.297e-05	1.314e-05	5.523e-05	0.0010	1.284e-05	8.15e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.518	0.07307	T	0.882	0.03205	T	0.025	0.19245	B	0.003	0.08700	B	0.510174	0.11853	U	0.746692	1	0.81001	D	0.345	0.11182	N	1.61	0.28391	T	-0.2	0.10136	N	0.097	0.07811	-1.1177	0.02482	T	0.047	0.19998	T	10	0.061424315	0.07699	T	0.087459	0.74940	D	0.044	0.11924	0.265	0.21103	0.117191471859	0.11215	0.37500536037516485	0.37414	0.355003799051	0.37268	0.82734644413	0.86156	D	0.031144	0.21906	T	-0.222346	0.17674	T	-0.557161	0.16644	T	0.0913135076906388	0.11373	T	0.589341	0.21633	T	0.1263552	0.29597	0.11690993	0.28223	0.1263552	0.29597	0.11690993	0.28222	-6.234	0.48197	T	.	.	0.116	0.23360	B	.	.	2.379202	0.30541	18.47	0.95536599229780828	0.27178	0.01253	0.04406	N	ALL	0.118536	0.23174	N	-0.671145535965272	0.16848	0.8619307	-0.65511341039063	0.18087	0.9647204	0.999999998674074	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.239995	0.05000	1	0.492483	0.08430	1	.	.	3.4	3.4	0.38031	0.149000	0.16062	4.620000	0.44072	0.422000	0.20808	0.001000	0.13787	1.000000	0.68203	0.016000	0.10718	0.0:1.0:0.0:0.0	11.682	0.50729	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	0.02381	360.99	30	chr4	16226370	.	C	T	360.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.815;DP=543;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-1.470e-01;SOR=0.895	GT:AD:DP:GQ:PL	0/1:13,17:30:99:375,0,247	20	0	1	0
chr4	20617635	20617635	G	C	exonic	SLIT2	.	nonsynonymous SNV	SLIT2:NM_001289135:exon35:c.G4321C:p.D1441H	.	.	444	1068	10	0	0	10	0.00465983	.	.	2128524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.736	P	0.372	B	0.000	D	1.000	D	1.14	L	-1.35	T	-0.227	T	0.418	T	0.391	3.931	20.0	5.61	2.643	7.682	19.656	0.410	0.0654419089756	0.0011	.	0.0011	0	0.0004	0	0	0.0019	0.0027	0.0003	0.0008409	130	154602	rs141897818	0.0006	0.0006	0.0006	0.0007	0.0027	0.0006	0.0006	0.0016	0.0012	5.986e-05	0.0002	0.0167	0	0	0.0027	0.0003	0.0015	0.0008	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0004	0.0002	0.0002	0	0	0.0001	0.0132	0	0	0.0068	0.0004	0.0005	0.0004	0.054	0.38633	T	0.036	0.52389	D	0.003	0.42845	B	0.012	0.43610	B	0.000005	0.62929	D	0.140695	0.999994	0.58761	D	1.39	0.34934	L	-1.42	0.80730	T	-1.21	0.30762	N	0.578	0.59986	-0.2269	0.76969	T	0.418	0.76408	T	10	0.011024505	0.00243	T	0.065442	0.69580	D	0.410	0.72176	.	.	0.566278572614	0.56292	0.3901267687069106	0.38927	0.673258825652	0.59583	0.396597802639	0.24595	T	0.24698	0.61654	T	-0.193066	0.21808	T	-0.145188	0.59667	T	0.0817507681222078	0.10211	T	0.778722	0.44372	T	0.10534025	0.24906	0.18189037	0.41081	0.10534025	0.24906	0.18189037	0.41080	-10.27	0.75513	D	.	.	0.174	0.38318	B	.;.;.;.;.	.;.;.;.;.	3.957423	0.58015	23.9	0.99615558765476209	0.75112	0.98392	0.82308	D	AEFBI	0.903494	0.85264	D	0.285743037775079	0.55424	3.706601	0.438347105495638	0.63972	4.642092	0.999999999266142	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.61	5.61	0.85347	7.806000	0.84575	10.040000	0.83183	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:0.0:1.0:0.0	19.656	0.95833	817	0.41665	.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-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	904.98	70	chr4	20617635	.	G	C	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-02;DP=773;ExcessHet=0.0000;FS=2.164;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-7.700e-02;SOR=1.085	GT:AD:DP:GQ:PL	0/1:37,33:70:99:919,0,1001	20	0	1	0
chr4	36229221	36229221	G	A	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C266T:p.P89L,	.	.	434	1056	30	2	0	34	0.0158434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.0	B	0.251	N	1.000	N	0.205	N	-0.06	T	-1.031	T	0.065	T	0.016	1.293	10.23	2.77	0.807	0.516	4.300	0.095	.	0.0110	0.00559105	0.0086	0.0098	0.0030	0.0001	0.0115	0.0117	0.0110	0.0025	0.0087062	1346	154602	rs35822395	0.0098	0.0098	0.0099	0.0097	0.0154	0.0096	0.0096	0.0129	0.0119	0.0117	0.0053	0.0047	0.0001	0.0122	0.0154	0.0109	0.0082	0.0023	0.0096	0.0096	0.0096	0.0095	0.0111	0.0092	0.0090	0.0104	0.0102	0.0103	0.0121	0.0062	0.0040	0	0.0105	0.0102	0.0111	0.0128	0.0027	0.094	0.31383	T	0.429	0.13752	T	0.0	0.02946	B	0.0	0.01387	B	0.251344	0.03649	N	1.525240	1	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-0.94	0.25118	N	0.061	0.03283	-1.0306	0.20260	T	0.065	0.26948	T	10	0.0031697154	0.00053	T	.	.	.	0.095	0.27398	.	.	0.18995819373	0.18626	0.22016445479524357	0.21932	0.0250879662362	0.02552	0.228219985962	0.01839	T	0.003592	0.03000	T	-0.606973	0.00132	T	-0.63362	0.10141	T	0.00335767895251557	0.00035	T	0.79622	0.43953	T	0.036733206	0.04575	0.042625476	0.05121	0.036733206	0.04575	0.042625476	0.05120	-2.329	0.04716	T	.	.	0.063	0.01512	B	.	.	1.312951	0.17162	13.00	0.87722954674072384	0.17433	0.11363	0.16584	N	AEFGBI	0.068065	0.13411	N	-0.786696905977772	0.13656	0.6743126	-0.697816327164889	0.17015	0.902815	0.998985095291289	0.38135	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	2.77	0.31614	0.525000	0.22664	1.428000	0.26422	0.672000	0.70159	0.000000	0.06391	0.001000	0.17328	0.870000	0.41412	0.0782:0.1297:0.4379:0.3542	4.300	0.10364	726	0.54788	.	.	.	.	.	rs35822395	Uncertain significance	0	0	0	0	0	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	1346.98	104	chr4	36229221	.	G	A	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=814;ExcessHet=0.0000;FS=0.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-1.106e+00;SOR=0.574	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1361,0,1526	20	0	1	0
chr4	38827207	38827207	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C2267T:p.T756M,	.	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.153	B	0.104	B	0.497	N	1.000	N	0.205	N	-1.71	D	-0.791	T	0.226	T	0.035	0.020	4.117	2.33	0.302	0.322	5.462	0.179	.	0.0077	0.00958466	0.0115	0.0018	0.0068	0.0002	0.0027	0.0112	0.0231	0.0308	0.0109313	1690	154602	rs5743820	0.0094	0.0094	0.0082	0.0105	0.0548	0.0092	0.0092	0.0498	0.0479	0.0028	0.0080	0.0265	0.0001	0.0021	0.0548	0.0077	0.0119	0.0326	0.0078	0.0078	0.0077	0.0078	0.0267	0.0074	0.0072	0.0230	0.0216	0.0030	0.0011	0.0086	0.0286	0	0.0031	0.0816	0.0089	0.0166	0.0267	0.033	0.44358	D	0.015	0.70582	D	0.153	0.28093	B	0.104	0.31021	B	0.497084	0.11992	N	0.750305	1	0.08975	N	0	0.06538	N	-1.71	0.83157	D	-1.13	0.29114	N	0.03	0.07398	-0.7909	0.55677	T	0.226	0.59121	T	10	0.0028704405	0.00046	T	.	.	.	0.179	0.44899	.	.	.	.	0.1746402654636805	0.17383	0.193594903952	0.21691	0.278119981289	0.07232	T	0.058549	0.30873	T	-0.534823	0.00360	T	-0.518016	0.20495	T	0.00559374194311265	0.00061	T	0.29847	0.15517	T	0.03610745	0.04378	0.04778994	0.06959	0.03610745	0.04378	0.04778994	0.06958	-5.872	0.46737	T	.	.	0.086	0.10931	B	.;.;.	.;.;.	1.386434	0.17983	13.48	0.97477809307597563	0.34172	0.21857	0.21548	N	AEFBCI	0.204685	0.33110	N	-1.35961097335748	0.03026	0.1345516	-1.34051892723374	0.03918	0.1837954	0.181631973287945	0.17880	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	2.33	0.27981	0.841000	0.27267	1.795000	0.28833	-2.553000	0.00247	0.000000	0.06391	0.007000	0.19602	0.002000	0.04165	0.2233:0.0:0.6384:0.1383	5.462	0.15915	674	0.60593	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4307.68	99	chr4	38827207	.	G	A	4307.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.701;DP=920;ExcessHet=0.3300;FS=0.935;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=-2.360e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:36,63:99:99:1692,0,756	18	0	3	0
chr4	48490325	48490325	T	C	exonic	ZAR1	.	nonsynonymous SNV	ZAR1:NM_175619:exon1:c.T34C:p.Y12H,	.	.	366	1155	1	0	0	1	0.000432713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.049	B	0.019	B	0.002	N	1.000	N	1.79	L	.	.	-1.012	T	0.082	T	0.138	2.866	15.55	-0.149	-0.184	3.240	4.306	0.103	0.415445901089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.469e-06	2.736e-06	0	2.973e-06	1.871e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.871e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.022	0.57587	D	0.049	0.22227	B	0.019	0.18783	B	0.001748	0.38106	N	0.175427	1	0.08975	N	2.175	0.60977	M	.	.	.	-2.39	0.52612	N	0.171	0.18239	-1.0121	0.26259	T	0.082	0.32353	T	9	0.16826475	0.31368	T	0.415446	0.93685	D	0.103	0.29403	0.627	0.76254	0.0482279557977	0.04254	0.5457809778112004	0.54504	0.972122514001	0.73403	0.741523265839	0.73197	T	0.232589	0.59919	T	-0.193308	0.21775	T	-0.51545	0.20757	T	0.19837760925293	0.20326	T	0.485951	0.14839	T	0.08181205	0.18818	0.11414228	0.27552	0.08181205	0.18818	0.11414228	0.27551	-4.948	0.36270	T	.	.	0.241	0.47470	B	.	.	2.442409	0.31438	18.74	0.9869867940577417	0.44866	0.13029	0.17622	N	AEFDGBCI	0.115957	0.22778	N	-0.764641020074571	0.14238	0.707653	-0.839284012981558	0.13546	0.7032645	0.999809925675199	0.43304	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.79	-0.149	0.12764	1.470000	0.34963	0.884000	0.22419	0.485000	0.22221	0.013000	0.18845	0.001000	0.17328	0.029000	0.12982	0.0:0.2039:0.1723:0.6237	4.306	0.10388	187	0.92701	.	.	.	.	.	.	Uncertain significance	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	556.98	53	chr4	48490325	.	T	C	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.440e-01;DP=794;ExcessHet=0.0000;FS=1.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=1.65;SOR=0.446	GT:AD:DP:GQ:PL	0/1:29,24:53:99:571,0,781	20	0	1	0
chr4	51994584	51994584	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C2438T:p.P813L,	.	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.197	B	0.052	B	0.969	N	1.000	N	0.255	N	1.58	T	-0.989	T	0.035	T	0.097	1.120	9.566	1.91	0.256	0.243	4.407	0.107	0.00747068174486	8.3e-05	0.00119808	0.0007	0	8.657e-05	0	0	0.0003	0	0.004	0.0006209	96	154602	rs201852965	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	2.987e-05	0.0001	0.0016	2.52e-05	0	0.0023	7.014e-05	0.0005	0.0043	0.0003	0.0003	0.0002	0.0003	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0001	0.0023	0	0	0.0034	0.0001	0.0009	0.0046	0.542	0.06757	T	0.575	0.08654	T	0.197	0.29559	B	0.052	0.25551	B	0.968726	0.08174	N	0.983285	1	0.08975	N	1.65	0.42232	L	1.58	0.29085	T	-2.07	0.47344	N	0.053	0.02462	-0.9894	0.32753	T	0.035	0.14900	T	10	0.0047828853	0.00101	T	0.007471	0.19819	T	0.107	0.30369	.	.	0.154104182512	0.14974	0.03317373347038634	0.03265	0.0439505018323	0.04735	0.272894084454	0.06521	T	0.007813	0.07192	T	-0.640599	0.00083	T	-0.69296	0.06219	T	0.0188849794227172	0.00598	T	0.570643	0.20320	T	0.017936166	0.00316	0.037262455	0.03343	0.017936166	0.00316	0.037262455	0.03342	-3.237	0.12938	T	.	.	0.078	0.06990	B	.	.	0.655049	0.10233	6.972	0.53703547576644117	0.04992	0.03606	0.08836	N	AEFDBI	0.044990	0.07306	N	-0.9850956713548	0.08921	0.4201849	-0.996025679668643	0.09874	0.493841	0.00363253125332423	0.10212	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.67	1.91	0.24841	0.495000	0.22191	0.190000	0.15733	-0.105000	0.15698	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2106:0.187:0.6024:0.0	4.407	0.10843	.	.	.	.	.	.	.	.	Uncertain significance	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	2368.98	150	chr4	51994584	.	G	A	2368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=1.84;SOR=0.688	GT:AD:DP:GQ:PL	0/1:69,81:150:99:2383,0,1823	20	0	1	0
chr4	52743993	52743993	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C1528T:p.R510C	.	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0015	0	0	0.0110	0	0	0.0114	0.0027	0.0002587	40	154602	rs573078217	0.0004	0.0003	0.0003	0.0005	0.0023	0.0004	0.0004	0.0020	0.0019	0	5.755e-05	0	0.0010	0	0.0017	0.0002	0.0002	0.0023	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0.0001	0	0	0	0.0023	0	0	0.0002	0.0005	0.0021	.	.	.	0.0	0.92824	D	0.975	0.58077	D	0.162	0.34839	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.0060370564	0.00136	T	.	.	.	.	.	.	.	0.191931220699	0.18833	0.1859452106173684	0.18512	.	.	0.245777726173	0.03336	T	8.21E-4	0.00404	T	-0.469292	0.00859	T	-0.45243	0.27429	T	.	.	.	0.541746	0.18406	T	0.1466098	0.33555	0.09206829	0.21678	0.1466098	0.33554	0.09206829	0.21677	-1.074	0.01084	T	.	.	0.238	0.47228	B	.;.	.;.	1.939792	0.24637	16.47	0.99643812846126434	0.76819	0.00708	0.02999	N	AEFBHCI	0.056407	0.10426	N	.	.	.	.	.	.	0.00481535567771994	0.10723	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.616125	0.45549	0	.	.	2.42	-0.706	0.10682	-0.323000	0.08039	0.771000	0.21396	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1689:0.5045:0.3266:0.0	4.677	0.12101	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1721.98	158	chr4	52743993	.	G	A	1721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=857;ExcessHet=0.0000;FS=2.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=1.73;SOR=0.900	GT:AD:DP:GQ:PL	0/1:85,73:158:99:1736,0,1860	20	0	1	0
chr4	70158722	70158722	-	GCCTGCTGCAGAGGCACCTGT	exonic	PRR27	.	nonframeshift insertion	PRR27:NM_214711:exon3:c.470_471insGCCTGCTGCAGAGGCACCTGT:p.V164_G165insPAAEAPV,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.092e-06	2.091e-06	1.386e-06	2.807e-06	0.0002	5.6e-07	1.5e-07	3.1e-07	1.1e-07	0	0	0	0	0	0.0002	1.834e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1582.11	79	chr4	70158722	.	A	AGCCTGCTGCAGAGGCACCTGT,*	1582.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.141e+00;DP=1077;ExcessHet=0.3300;FS=2.767;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.93;ReadPosRankSum=-1.805e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/2:51,0,28:79:99:1003,1157,3244,0,2087,1980	18	0	1	0
chr4	70158722	70158722	A	0	exonic	PRR27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1582.11	79	chr4	70158722	.	A	AGCCTGCTGCAGAGGCACCTGT,*	1582.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.141e+00;DP=1077;ExcessHet=0.3300;FS=2.767;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.93;ReadPosRankSum=-1.805e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/2:51,0,28:79:99:1003,1157,3244,0,2087,1980	18	0	1	0
chr4	70839692	70839692	G	T	exonic	GRSF1	.	nonsynonymous SNV	GRSF1:NM_002092:exon1:c.C136A:p.R46S,	.	.	394	1123	4	1	0	6	0.0026643	.	.	2340855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	.	.	1.000	D	0	N	2.24	T	-1.010	T	0.017	T	0.375	1.779	11.91	2.34	0.666	.	5.375	0.050	0.134165418943	.	.	0.0003	0	0	0	.	0	0	0.0003	1.29e-05	2	154602	rs769022123	0.0001	0.0001	0.0001	0.0001	0.0034	0.0001	0.0001	0.0020	0.0016	3.916e-05	0.0003	0	3.509e-05	0	0.0034	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	8.722e-05	0.0004	0.0003	4.812e-05	0	0.0007	0	0	0	0	0.0001	0.0005	0	0.345	0.12511	T	0.848	0.03527	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999908	0.19694	N	0.345	0.11182	N	2.24	0.17923	T	-0.53	0.16393	N	0.264	0.29889	-1.0102	0.26854	T	0.017	0.07092	T	9	0.06259611	0.08026	T	0.134165	0.81658	D	0.050	0.13987	0.431	0.48007	0.148003135375	0.14442	0.2884030428147245	0.28753	0.213979805848	0.23928	0.911752820015	0.97633	D	0.013991	0.11998	T	-0.362619	0.03984	T	-0.498975	0.22455	T	0.146461375667103	0.16818	T	0.540746	0.18332	T	0.12519787	0.29355	0.1296727	0.31175	0.12519787	0.29354	0.1296727	0.31174	-4.028	0.24221	T	.	.	0.792	0.76920	P	.	.	3.084554	0.41513	21.4	0.97830627535876613	0.36259	0.15944	0.19156	N	ALL	0.074218	0.14871	N	-0.795393601741868	0.13429	0.6615061	-0.710108440125152	0.16709	0.8851896	0.999999999999839	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.19	2.34	0.28071	3.997000	0.56729	10.676000	0.83558	0.587000	0.30956	0.992000	0.37556	1.000000	0.68203	0.013000	0.09966	0.2673:0.0:0.7327:0.0	5.375	0.15464	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	652.98	38	chr4	70839692	.	G	T	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.343;DP=656;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.880;SOR=0.852	GT:AD:DP:GQ:PL	0/1:12,26:38:99:667,0,216	20	0	1	0
chr4	74445374	74445374	C	T	exonic	AREG	.	nonsynonymous SNV	AREG:NM_001657:exon1:c.C29T:p.P10L,	.	.	430	1080	11	1	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.098	B	0.01	B	0.366	N	0.943	N	0.6	N	2.7	T	-0.958	T	0.014	T	0.238	2.037	12.77	1.03	0.061	0.213	2.345	0.015	0.00103404968731	7.7e-05	0.0109824	0.0085	0.0007	0.0003	0	0	4.613e-05	0.0182	0.0538	0.0048447	749	154602	rs376784024	0.0024	0.0025	0.0014	0.0035	0.0387	0.0024	0.0023	0.0376	0.0371	0.0002	0	0	2.522e-05	0	0.0011	0.0001	0.0020	0.0387	0.0015	0.0016	0.0008	0.0023	0.0443	0.0014	0.0013	0.0395	0.0376	0.0002	0	0	0	0	0	0	0.0002	0.0005	0.0443	1.0	0.14843	T	0.147	0.41742	T	0.098	0.25584	B	0.01	0.14941	B	0.365883	0.13600	N	0.695263	0.94284	0.26739	N	1.7	0.43825	L	2.57	0.13552	T	-0.14	0.09135	N	0.125	0.28028	-0.9579	0.39571	T	0.014	0.05608	T	10	0.0018948913	0.00026	T	.	.	.	0.015	0.02232	.	.	0.251679625132	0.24793	0.18960787888254005	0.18878	1.87222697468	0.92530	0.636447370052	0.58060	T	0.151918	0.49209	T	-0.616399	0.00116	T	-0.628914	0.10497	T	0.0171175684071168	0.00457	T	0.742826	0.36203	T	0.026477609	0.01709	0.027198391	0.00856	0.026477609	0.01709	0.027198391	0.00855	-0.577	0.00632	T	.	.	0.121	0.26855	B	.;.	.;.	1.796215	0.22833	15.78	0.97939868409903441	0.37021	0.06763	0.12785	N	ALL	0.020406	0.00803	N	-0.968971064225336	0.09272	0.4381197	-0.916639232025245	0.11702	0.5977641	0.998970322747863	0.38110	0.487112	0.14033	0	0.573888	0.26702	0	0.0	0.00061	3	0.564101	0.26826	0	.	.	3.89	1.03	0.19161	0.152000	0.16120	1.274000	0.25309	0.549000	0.26987	0.015000	0.19116	0.806000	0.26994	0.307000	0.24666	0.1978:0.4994:0.1919:0.111	2.345	0.04008	579	0.69780	.;.	.	.	.	.	.	Likely benign	0	0	0	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	1199.98	89	chr4	74445374	.	C	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-3.340e-01;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,49:89:99:0|1:74445374_C_T:1214,0,1502:74445374	20	0	1	0
chr4	74446570	74446570	A	G	exonic	AREG	.	nonsynonymous SNV	AREG:NM_001657:exon2:c.A98G:p.Y33C,	.	.	433	1077	11	1	0	13	0.00599908	.	.	709457	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	.	.	.	.	0.224	N	1.000	N	.	.	2.47	T	-1.016	T	0.030	T	0.148	-0.317	2.493	-5.68	-1.400	-1.030	5.448	0.026	.	0.0004	0.00858626	0.0013	0.0007	0	0	0	0	0.0025	0.0102	0.0062418	965	154602	rs201209086	0.0025	0.0025	0.0015	0.0036	0.0390	0.0024	0.0024	0.0379	0.0374	0.0006	0.0001	0	2.519e-05	0	0.0010	0.0001	0.0023	0.0390	0.0017	0.0017	0.0010	0.0024	0.0445	0.0015	0.0015	0.0396	0.0378	0.0007	0	0.0003	0	0	0	0	0.0001	0.0019	0.0445	0.108	0.29420	T	0.177	0.31936	T	0.961	0.55431	D	0.42	0.45080	B	0.223832	0.03473	N	1.550240	1	0.08975	N	0.665	0.16292	N	2.47	0.14783	T	-0.58	0.17417	N	0.182	0.19728	-0.9791	0.35208	T	0.026	0.11309	T	10	0.0028220117	0.00045	T	.	.	.	0.131	0.35738	.	.	0.151262610727	0.14761	0.14238437144027366	0.14161	2.19856283561	0.95671	0.294216394424	0.09542	T	0.179641	0.53070	T	-0.65469	0.00068	T	-0.699567	0.05849	T	0.0337499164163251	0.02596	T	0.646635	0.25786	T	0.034641616	0.03928	0.040164653	0.04279	0.034641616	0.03927	0.040164653	0.04279	-7.363	0.56643	T	.	.	0.084	0.13690	B	.;.	.;.	-0.462999	0.01987	0.174	0.56612482229642103	0.05590	0.02257	0.06531	N	AEFGBI	0.040767	0.06108	N	-1.23317617574155	0.04527	0.2044577	-1.47280400056617	0.02570	0.1184181	0.978259194570649	0.29903	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	-10.2	0.00305	-1.012000	0.03759	-0.252000	0.10498	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.2225:0.6401:0.1375:0.0	11.585	0.50168	578	0.69858	.;.	.	.	.	.	.	Likely benign	0	0	0	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	760.98	53	chr4	74446570	.	A	G	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.630e-01;DP=780;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=1.17;SOR=0.465	GT:AD:DP:GQ:PL	0/1:25,28:53:99:775,0,718	20	0	1	0
chr4	82429365	82429365	C	G	exonic	HNRNPDL	.	nonsynonymous SNV	HNRNPDL:NM_001207000:exon1:c.G326C:p.R109P	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	632479	not_specified|Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G	MedGen:CN169374|MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.831	P	0.087	B	0.000	D	1.000	D	0	N	-0.51	T	-0.848	T	0.129	T	0.68	4.160	21.5	4.74	2.469	1.907	14.735	0.268	0.813455548222	.	.	2.499e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs780878669	8.896e-06	8.893e-06	6.809e-06	1.1e-05	0.0001	4.96e-06	3.83e-06	5.396e-05	4.042e-05	0	0	0	0	0	0	3.598e-06	0	0.0001	6.578e-06	6.57e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.196	0.31936	T	0.831	0.46109	P	0.087	0.29615	B	0.000478	0.44119	D	0.000000	0.761133	0.81001	D	0	0.06538	N	-0.51	0.70597	T	-0.34	0.12661	N	0.261	0.29544	-0.8484	0.52079	T	0.129	0.43848	T	10	0.27249962	0.44794	T	0.813456	0.98547	D	0.268	0.58254	0.256	0.19689	0.76921942964	0.76711	0.32677003994674136	0.32590	0.911059692479	0.71063	0.718757688999	0.69866	T	0.049241	0.28249	T	-0.060837	0.42776	T	-0.0884961	0.64275	T	0.347404956817627	0.26916	T	0.694431	0.30396	T	0.35908878	0.57766	0.6212509	0.77934	0.35908878	0.57766	0.6212509	0.77935	-3.017	0.10365	T	.	.	0.143	0.31482	B	.;.;.	.;.;.	4.133887	0.61886	24.4	0.99707569809078989	0.81074	0.64935	0.32570	D	ALL	0.460527	0.51067	N	-0.0507988476497762	0.39565	2.335367	0.0830048279186588	0.43695	2.665916	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.74	4.74	0.59717	1.534000	0.35656	3.142000	0.36487	-0.347000	0.05626	1.000000	0.71638	1.000000	0.68203	0.692000	0.33898	0.0:1.0:0.0:0.0	14.735	0.69026	912	0.21483	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1238.98	106	chr4	82429365	.	C	G	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.599;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.442;SOR=0.769	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1253,0,1150	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/1:0,57,0:57:99:1705,170,0,1705,170,1705	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,35:35:99:.:.:1399,1399,1399,106,106,0	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,35:35:99:.:.:1399,1399,1399,106,106,0	0	2	2	0
chr4	87616233	87616241	GACAGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3571_3579del:p.S1229_S1231del,	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	.	633	805	61	19	4	103	0.0579286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0138	.	0.0013	0.0102	0	0	0	0.0002	0	0	0.0001552	24	154602	rs779559161	0.0006	0.0005	0.0006	0.0005	0.0126	0.0005	0.0005	0.0116	0.0111	0.0126	0.0007	0.0008	0	0.0002	0.0037	0.0002	0.0016	4.211e-05	0.0035	0.0035	0.0036	0.0034	0.0109	0.0032	0.0031	0.0099	0.0096	0.0109	0	0.0011	0.0004	0	0.0004	0.0058	0.0003	0.0037	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5326.02	10	chr4	87616232	.	TGACAGCAGC	CGACAGCAGC,T	5326.02	.	AC=7,1;AF=0.219,0.031;AN=32;BaseQRankSum=1.16;DP=1033;ExcessHet=0.0004;FS=3.054;InbreedingCoeff=0.5011;MLEAC=7,1;MLEAF=0.219,0.031;MQ=58.86;MQRankSum=0.680;QD=29.26;ReadPosRankSum=0.832;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9,0:10:68:1|1:87616226_TAGCAGTGAC_T:893,70,0,690,68,650:87616226	11	3	1	5
chr4	88046767	88046767	T	G	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon6:c.T1445G:p.F482C,	Polycystic kidney disease 2	YES	4	1474	41	3	0	47	0.0156928	.	.	221477	not_specified|Autosomal_dominant_polycystic_kidney_disease|Polycystic_kidney_disease|Polycystic_kidney_disease_2|not_provided	MedGen:CN169374|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.519	P	0.586	P	0.001	D	1.000	D	0.895	L	-0.47	T	-0.359	T	0.340	T	0.444	3.759	19.08	5.61	2.130	6.099	15.800	0.185	0.174648661368	0.0024	0.000998403	0.0021	0.0002	0.0018	0	0.0005	0.0032	0.0022	0.0010	0.0020698	320	154602	rs75762896	0.0022	0.0022	0.0022	0.0022	0.0311	0.0021	0.0021	0.0274	0.0259	0.0007	0.0019	0.0095	0	0.0002	0.0311	0.0021	0.0034	0.0012	0.0018	0.0018	0.0020	0.0017	0.0025	0.0017	0.0016	0.0021	0.0020	0.0005	0	0.0025	0.0095	0	0.0002	0.0170	0.0024	0.0057	0.0014	0.005	0.63226	D	0.012	0.63918	D	0.519	0.37512	P	0.586	0.50343	P	0.000986	0.40743	D	0.256644	0.937535	0.81001	D	1.39	0.34934	L	-0.47	0.70133	T	-1.31	0.32791	N	0.366	0.40765	-0.3586	0.73305	T	0.340	0.70575	T	10	0.013403147	0.00284	T	0.174649	0.85097	D	0.185	0.45933	.	.	0.275349458131	0.27150	0.7992809757317741	0.79881	0.628865736307	0.56943	0.429157376289	0.29093	T	0.284679	0.65746	T	-0.300048	0.08654	T	-0.209322	0.53761	T	0.0306232327871647	0.02086	T	0.80282	0.44919	T	0.22798562	0.45510	0.15149388	0.35683	0.32848933	0.55347	0.19268322	0.42796	-7.815	0.59802	D	0.23977873573515104	0.32479	0.088	0.11749	B	.	.	4.653233	0.74191	26.1	0.99382475913230373	0.61935	0.97013	0.72187	D	AEFBI	0.775507	0.70890	D	0.341962011717758	0.58317	4.003165	0.450285093661695	0.64736	4.73565	0.999999796872556	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	6.082000	0.70966	7.856000	0.71202	0.663000	0.56723	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.800	0.78216	489	0.76795	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	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	0.04762	2244.11	102	chr4	88046767	.	T	G	2244.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.200e-02;DP=888;ExcessHet=0.1072;FS=5.382;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=1.76;SOR=0.708	GT:AD:DP:GQ:PL	0/1:62,40:102:99:947,0,1629	19	0	2	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	0/1:88,50:166:99:343,0,1353	2	0	18	1
chr4	100475106	100475106	G	A	exonic	EMCN	.	nonsynonymous SNV	EMCN:NM_001159694:exon3:c.C191T:p.T64I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.548	P	0.192	B	0.409	N	1.000	N	0.895	L	.	.	-1.059	T	0.053	T	0.104	1.147	9.670	1.58	0.430	0.115	4.235	0.014	0.00359542585754	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866956563	8.325e-06	1.507e-05	9.037e-06	7.605e-06	0.0002	4.47e-06	3.27e-06	4.98e-06	3.63e-06	0	0	0	0	0	0.0002	9.849e-06	0	0	6.579e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.069	0.68238	T	0.167	0.36630	T	0.548	0.38076	P	0.192	0.36449	B	0.409181	0.13020	N	0.629834	1	0.08975	N	0.625	0.15840	N	.	.	.	-1.75	0.58248	N	0.071	0.05414	-1.0589	0.12032	T	0.053	0.22307	T	9	0.07266083	0.10878	T	0.003595	0.08216	T	0.014	0.01968	0.485	0.56780	0.0297737177859	0.01360	0.40604538222373726	0.40520	0.0526180103936	0.05794	0.271687507629	0.06363	T	0.047654	0.27785	T	-0.209043	0.19513	T	-0.538052	0.18489	T	0.0771750780552585	0.09621	T	0.649435	0.26018	T	0.029478999	0.02450	0.039687444	0.04118	0.029478999	0.02450	0.039687444	0.04118	-4.266	0.29298	T	.	.	0.114	0.34580	B	.;.;.;.	.;.;.;.	1.568807	0.20088	14.58	0.97205216725449162	0.32829	0.02933	0.07750	N	AEFI	0.052326	0.09328	N	-0.948556229486688	0.09725	0.4615381	-0.99671274983922	0.09859	0.4929804	8.98781860106781E-5	0.04703	0.732398	0.92422	0	0.573888	0.26702	0	0.573888	0.23631	0	0.727631	0.95156	0	.	.	3.3	1.58	0.22557	0.123000	0.15536	-0.106000	0.11884	-0.114000	0.14653	0.041000	0.21027	0.000000	0.08366	0.431000	0.27472	0.1205:0.0:0.6543:0.2252	4.235	0.10073	581	0.69614	.;.;.;.	.	.	.	.	.	Uncertain significance	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	577.98	57	chr4	100475106	.	G	A	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.970;SOR=0.832	GT:AD:DP:GQ:PL	0/1:31,26:57:99:592,0,730	20	0	1	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.82	P	0.035	N	0.786	D	2.015	M	0.48	T	-0.407	T	0.243	T	0.062	4.042	20.7	3.71	1.263	1.359	9.652	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	286.74	129	chr4	119271801	.	G	C	286.74	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.983e+00;DP=2647;ExcessHet=1.1607;FS=242.086;InbreedingCoeff=-0.2765;MLEAC=7;MLEAF=0.269;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=1.51;SOR=10.248	GT:AD:DP:GQ:PL	0/1:96,33:129:76:76,0,2045	8	0	5	8
chr4	121678413	121678413	A	G	splicing	ANXA5	NM_001154:exon7:c.474+2T>C	.	.	.	.	.	.	.	.	.	.	.	0.9923	0.646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.060	16.22	4.93	1.984	7.533	14.527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287473011	6.848e-06	6.841e-06	5.451e-06	8.26e-06	5.821e-05	3.46e-06	2.53e-06	2.201e-05	1.435e-05	0	0	0	0	0	0	2.7e-06	3.315e-05	5.821e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254533	0.79023	D	0.228472	0.84594	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.977330	0.82420	27.8	0.99287808151970469	0.58149	0.98089	0.79505	D	AEFBI	0.833309	0.75154	D	1.04017889420868	0.96852	15.233	0.858452926694614	0.93500	12.084	0.999999999233473	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	7.526000	0.80815	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	1.0:0.0:0.0:0.0	14.527	0.67483	781	0.47532	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1077.98	98	chr4	121678413	.	A	G	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=810;ExcessHet=0.0000;FS=3.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=2.79;SOR=1.123	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1092,0,1317	20	0	1	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,66,0:66:99:2971,199,0,2971,199,2971	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	1/1:0,66,0:66:99:2971,199,0,2971,199,2971	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|1:55,47:102:99:0|1:140563137_C_G:596,0,1380:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,47:102:99:0|1:140563137_C_G:596,0,1380:140563137	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,120,0:120:99:.:.:3987,360,0,3987,360,3987	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,53,0,0,0:54:99:2183,118,0,2186,160,2227,2186,160,2227,2227,2186,160,2227,2227,2227	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,53,0,0,0:54:99:2183,118,0,2186,160,2227,2186,160,2227,2227,2186,160,2227,2227,2227	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,53,0,0,0:54:99:2183,118,0,2186,160,2227,2186,160,2227,2227,2186,160,2227,2227,2227	0	10	4	0
chr4	153397308	153397308	T	G	exonic	MND1	.	nonsynonymous SNV	MND1:NM_032117:exon6:c.T441G:p.C147W,	.	.	435	1073	12	2	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.987	D	0.865	P	0.000	D	1.000	D	2.725	M	.	.	-0.545	T	0.324	T	0.776	1.857	12.17	2.94	0.416	2.811	8.238	0.720	.	0.0004	0.00219649	0.0019	0	0.0002	0	0	0.0004	0.0026	0.0125	0.0014553	225	154602	rs34155513	0.0009	0.0009	0.0005	0.0013	0.0120	0.0009	0.0009	0.0114	0.0112	5.979e-05	0.0002	0	0	0	0.0050	0.0002	0.0011	0.0120	0.0006	0.0006	0.0003	0.0010	0.0124	0.0005	0.0005	0.0099	0.0090	2.405e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0124	0.098	0.40573	T	0.18	0.29442	T	0.987	0.61912	D	0.865	0.61524	P	0.000000	0.84330	D	0.041461	1	0.81001	D	3.37	0.91327	M	.	.	.	-6.4	0.96218	D	0.748	0.74735	-0.5454	0.66960	T	0.324	0.69255	T	9	0.012475997	0.00268	T	.	.	.	0.720	0.90101	.	.	0.361758802978	0.35793	0.6569080204790706	0.65627	0.511586276825	0.49235	0.618680477142	0.55543	T	0.26077	0.63218	T	-0.109848	0.34792	T	0.078829	0.75499	D	0.159456358214955	0.17831	T	0.911709	0.72366	D	0.54064786	0.69433	0.54937625	0.73947	0.54064786	0.69434	0.54937625	0.73947	-11.202	0.80754	D	.	.	0.452	0.65185	A	.;.	.;.	4.259806	0.64723	24.7	0.99216729701269402	0.55777	0.92021	0.54770	D	AEFGBI	0.652997	0.62619	D	0.341669177866107	0.58299	4.001551	0.244616661895043	0.52343	3.409832	0.0457380989113274	0.14663	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.44	2.94	0.33188	2.929000	0.48610	4.131000	0.42030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1629:0.0:0.8371	8.238	0.30798	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1045.98	100	chr4	153397308	.	T	G	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=795;ExcessHet=0.0000;FS=3.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=-3.136e+00;SOR=1.165	GT:AD:DP:GQ:PL	0/1:58,42:100:99:1060,0,1355	20	0	1	0
chr4	169400346	169400346	T	G	exonic	NEK1	.	nonsynonymous SNV	NEK1:NM_001374421:exon30:c.A3243C:p.E1081D	Short-rib thoracic dysplasia 6 with or without polydactyly, Autosomal recessive, Digenic recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	2.125	M	0.4	T	-0.615	T	0.281	T	0.436	3.756	19.07	2.1	0.461	0.832	8.711	0.162	0.0248832996097	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs561314669	5.845e-06	5.474e-06	7.192e-06	4.454e-06	0.0002	2.51e-06	1.82e-06	2.04e-06	1.34e-06	0	2.876e-05	0	0	0	0.0002	5.681e-06	0	0	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.048	0.40573	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000018	0.62929	D	0.000000	0.999568	0.47592	D	2.42	0.70002	M	0.4	0.57261	T	-1.55	0.37759	N	0.617	0.69125	-0.6150	0.64196	T	0.281	0.65299	T	10	0.32100427	0.49469	T	0.024883	0.47865	T	0.162	0.41843	0.221	0.14371	0.511848488485	0.50826	0.3341048784908643	0.33323	0.342150454951	0.36147	0.645237386227	0.59309	T	0.156201	0.49827	T	-0.128448	0.31748	T	-0.29714	0.45026	T	0.851715683937073	0.50314	D	0.96937	0.89015	D	0.13965441	0.32251	0.10849201	0.26135	0.13965441	0.32251	0.10849201	0.26135	-4.958	0.37791	T	0.7045821333029897	0.78402	0.609	0.76654	P	.;.;.;.;.	.;.;.;.;.	3.561856	0.50119	22.9	0.99843109568648181	0.92316	0.93169	0.57505	D	AEFGBHCI	0.454928	0.50743	N	0.385912399145286	0.60657	4.257159	0.316895504317818	0.56533	3.816671	0.999991317548279	0.74766	0.651	0.46895	0	0.522029	0.08744	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.73	2.1	0.26226	0.824000	0.27034	1.445000	0.26559	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.2196:0.0:0.7804	8.711	0.33543	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	515.98	49	chr4	169400346	.	T	G	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=738;ExcessHet=0.0000;FS=2.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-8.920e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/1:26,23:49:99:530,0,701	20	0	1	0
chr4	185210142	185210142	C	A	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001378032:exon1:c.C316A:p.L106M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.55	2	chr4	185210142	.	C	A	35.55	.	AC=2;AF=0.071;AN=28;DP=62;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2375;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=17.77;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	13	1	0	7
chr5	194979	194979	C	T	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon2:c.C1171T:p.R391C,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.017	B	0.005	B	0.014	N	0.528	N	1.2	L	2.75	T	-1.087	T	0.023	T	0.154	1.325	10.35	3.82	0.702	0.457	8.166	0.059	0.00323093107424	8e-05	.	1.764e-05	0	0	0	0	3.212e-05	0	0	6.5e-06	1	154602	rs372575884	2.122e-05	2.121e-05	2.044e-05	2.202e-05	2.519e-05	1.521e-05	1.325e-05	1.663e-05	1.425e-05	0	2.237e-05	0	2.519e-05	0	0	2.429e-05	0	2.319e-05	6.568e-06	6.566e-06	0	1.344e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.11	0.29158	T	0.17	0.30436	T	0.017	0.17573	B	0.005	0.11217	B	0.014420	0.28541	N	0.403365	0.528269	0.31512	N	1.805	0.47535	L	2.75	0.11622	T	-4.69	0.79743	D	0.21	0.23380	-1.0868	0.06084	T	0.023	0.09832	T	10	0.118094325	0.22319	T	0.003231	0.07117	T	0.059	0.16972	.	.	0.119812018005	0.11559	0.4417343675967779	0.44090	0.284890240175	0.30903	0.279442101717	0.07415	T	0.211254	0.57197	T	-0.388972	0.02732	T	-0.637031	0.09887	T	0.110599334511887	0.13485	T	0.772923	0.40417	T	0.11123336	0.26286	0.0948312	0.22464	0.11123336	0.26286	0.0948312	0.22464	-6.826	0.52752	T	.	.	0.122	0.25462	B	.	.	2.067726	0.26296	17.07	0.98458559199221218	0.41711	0.35914	0.25412	N	AEFDGBI	0.380772	0.46329	N	-0.700118057031412	0.16019	0.8124731	-0.679270650559781	0.17480	0.9296387	0.999995065742356	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.65	3.82	0.43153	0.512000	0.22461	1.707000	0.28170	0.599000	0.40250	0.110000	0.22992	0.003000	0.18671	0.019000	0.11356	0.1556:0.7584:0.0:0.0859	8.166	0.30391	862	0.33134	.	.	.	.	.	.	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	1735.98	111	chr5	194979	.	C	T	1735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.412;DP=830;ExcessHet=0.0000;FS=0.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=-5.400e-02;SOR=0.846	GT:AD:DP:GQ:PL	0/1:47,64:111:99:1750,0,1154	20	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L,	.	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.002	B	.	.	1.000	N	-0.235	N	1.96	T	-1.058	T	0.035	T	0.468	-1.931	0.008	-5.47	-2.822	-1.604	3.145	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC 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	0.09524	1920.92	353	chr5	840546	.	A	G	1920.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.560e-01;DP=2431;ExcessHet=0.6776;FS=5.180;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.12;MQRankSum=-1.789e+01;QD=1.22;ReadPosRankSum=-1.968e+00;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,30:353:99:0|1:840529_G_C:261,0,13124:840529	17	0	4	0
chr5	1037973	1037973	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C956T:p.T319M,	.	.	426	1076	20	0	0	20	0.0092081	.	.	2820347	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.005	B	0.0	B	0.156	N	1.000	N	-0.345	N	0.95	T	-1.046	T	0.030	T	0.086	-0.732	0.872	-7.03	-1.763	-0.679	6.048	0.016	.	0.0039	0.00319489	0.0050	0.0013	0.0038	0.0001	0.0044	0.0061	0.0034	0.0061	0.0041397	640	154602	rs185789971	0.0060	0.0060	0.0060	0.0060	0.0143	0.0059	0.0058	0.0118	0.0108	0.0012	0.0029	0.0045	2.53e-05	0.0036	0.0143	0.0066	0.0054	0.0055	0.0040	0.0040	0.0044	0.0036	0.0061	0.0037	0.0036	0.0056	0.0054	0.0014	0	0.0033	0.0049	0	0.0029	0.0103	0.0061	0.0043	0.0058	0.188	0.21304	T	0.229	0.25210	T	0.005	0.12996	B	0.0	0.01387	B	0.155611	0.02998	N	2.011550	1	0.08975	N	-0.695	0.01866	N	0.95	0.43279	T	0.47	0.03090	N	0.09	0.06854	-1.0464	0.15418	T	0.030	0.13111	T	10	0.0040747225	0.00080	T	.	.	.	0.016	0.02506	.	.	0.0920862733494	0.08535	0.08148479458835803	0.08083	0.0430301591875	0.04638	0.470398753881	0.34735	T	0.10385	0.41288	T	-0.672273	0.00053	T	-0.734305	0.04135	T	0.00115115326246585	0.00011	T	0.168783	0.01571	T	0.013951637	0.00075	0.032009598	0.01872	0.013951637	0.00075	0.032009598	0.01871	-5.449	0.41388	T	.	.	0.059	0.00861	B	.	.	-0.300285	0.02615	0.327	0.86537736169544699	0.16603	0.02210	0.06441	N	AEFBCI	0.047936	0.08126	N	-1.71657489953935	0.00784	0.03389608	-1.80186283245875	0.00753	0.03357648	0.991844927304227	0.32628	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.52	-7.03	0.01428	-0.964000	0.03943	-1.457000	0.05396	-0.254000	0.07082	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4569:0.3029:0.2402	6.048	0.18997	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	678.98	79	chr5	1037973	.	C	T	678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.750e-01;DP=824;ExcessHet=0.0000;FS=1.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.59;ReadPosRankSum=-4.820e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:46,33:79:99:693,0,1072	20	0	1	0
chr5	41912121	41912121	C	T	exonic	C5orf51	.	nonsynonymous SNV	C5orf51:NM_175921:exon5:c.C539T:p.P180L,	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.964	D	0.000	D	1.000	D	0.975	L	-1.74	D	0.173	D	0.524	D	0.854	5.005	29.4	5.84	2.767	4.401	18.338	0.685	.	0.0042	0.00159744	0.0050	0.0012	0.0053	0	0.0036	0.0072	0.0132	0.0010	0.0047541	735	154602	rs151191974	0.0058	0.0059	0.0059	0.0057	0.0075	0.0057	0.0056	0.0068	0.0065	0.0007	0.0075	0.0011	0	0.0033	0.0007	0.0067	0.0051	0.0016	0.0050	0.0050	0.0051	0.0050	0.0107	0.0047	0.0046	0.0093	0.0088	0.0017	0.0055	0.0107	0.0012	0	0.0037	0	0.0068	0.0080	0.0002	0.003	0.68238	D	0.008	0.67890	D	0.999	0.77913	D	0.964	0.71005	D	0.000001	0.84330	D	0.058585	0.999998	0.58761	D	2.085	0.57729	M	-1.74	0.83413	D	-7.51	0.95074	D	0.537	0.56489	0.173	0.85444	D	0.524	0.82249	D	10	0.016008139	0.00336	T	.	.	.	0.685	0.88490	.	.	0.942472317338	0.94187	0.3411874316836194	0.34031	0.589548075599	0.54450	.	.	.	0.246841	0.61638	T	4.70544e-06	0.51654	T	0.232921	0.84812	D	0.0491293605087723	0.05347	T	0.854015	0.53996	D	0.62123597	0.73829	0.6036091	0.76963	0.62123597	0.73831	0.6036091	0.76964	-3.422	0.15354	T	.	.	0.657	0.71205	P	.	.	4.571923	0.72147	25.8	0.99874428421644668	0.95160	0.98084	0.79462	D	AEFBI	0.543319	0.55869	D	0.634205633585724	0.75350	6.290408	0.673359997635072	0.80361	7.281796	0.99999999997601	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.84	5.84	0.93373	3.514000	0.53179	7.660000	0.64180	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.338	0.90239	412	0.82007	.	.	.	.	.	.	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	1638.98	116	chr5	41912121	.	C	T	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=803;ExcessHet=0.0000;FS=2.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.447;SOR=0.495	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1653,0,1172	20	0	1	0
chr5	61332332	61332332	-	GGC	exonic	ZSWIM6	.	nonframeshift insertion	ZSWIM6:NM_020928:exon1:c.60_61insGGC:p.G26_S27insG,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	6329.05	24	chr5	61332326	.	GGGCGGC	GGGCGGCGGC,G	6329.05	.	AC=9,3;AF=0.214,0.071;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.7800;FS=1.515;InbreedingCoeff=0.0667;MLEAC=9,3;MLEAF=0.214,0.071;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=-9.200e-02;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,16,0:24:99:.:.:646,0,288,670,336,1006	11	1	6	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.307	B	0.06	B	0.477	N	1.000	N	0.895	L	1.34	T	-1.052	T	0.048	T	0.062	0.785	8.138	-1.25	-0.073	0.529	4.559	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	140.72	97	chr5	79737121	.	T	C	140.72	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.679e+00;DP=1715;ExcessHet=1.1607;FS=178.575;InbreedingCoeff=-0.1308;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.09;SOR=10.961	GT:AD:DP:GQ:PL	0/1:74,23:97:14:14,0,1490	16	0	5	0
chr5	79758776	79758776	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon7:c.C11134T:p.P3712S,	.	.	437	1055	28	2	0	32	0.0149393	.	.	413681	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.015	M	0.6	T	-0.431	T	0.276	T	0.769	4.740	26.5	5.59	2.631	5.487	19.207	0.301	0.0742929937315	0.0019	0.00139776	0.0029	0.0007	0.0042	0	0.0002	0.0036	0.0056	0.0027	0.002749	425	154602	rs61744879	0.0022	0.0022	0.0020	0.0023	0.0331	0.0021	0.0021	0.0292	0.0277	0.0017	0.0039	0.0106	2.555e-05	0.0001	0.0331	0.0018	0.0040	0.0025	0.0020	0.0020	0.0021	0.0019	0.0029	0.0018	0.0018	0.0022	0.0020	0.0007	0	0.0029	0.0124	0	9.452e-05	0.0340	0.0023	0.0076	0.0010	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000156	0.49130	D	0.000000	1	0.81001	D	2.785	0.81254	M	0.6	0.53731	T	-5.62	0.86758	D	0.689	0.69474	-0.4306	0.71047	T	0.276	0.64814	T	10	0.0079553425	0.00181	T	0.074293	0.72005	D	0.301	0.62179	.	.	0.622420230759	0.61935	0.46018590125347536	0.45936	0.359342250833	0.37625	0.586560249329	0.51009	T	0.091318	0.38770	T	-0.188122	0.22534	T	-0.0356092	0.67996	D	0.0367943118285224	0.03119	T	0.858514	0.54939	D	0.7099612	0.78605	0.73149425	0.84133	0.7099612	0.78606	0.73149425	0.84134	-7.529	0.57815	D	.	.	0.200	0.42346	B	.	.	3.499703	0.48958	22.7	0.99864377371403934	0.94276	0.98098	0.79581	D	AEFBI	0.696231	0.65464	D	0.765666027885568	0.83920	8.145722	0.754136889735947	0.86466	8.898101	0.999999996582122	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.683000	0.67852	4.799000	0.44955	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.207	0.93720	419	0.81524	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	102	chr5	79758776	.	C	T	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.018e+00;DP=792;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-5.140e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1264,0,1102	20	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	0/2:27,0,37,0:64:99:1394,1476,2598,0,1122,1010,1476,2598,1122,2598	7	0	1	0
chr5	87268660	87268660	A	G	exonic	RASA1	.	nonsynonymous SNV	RASA1:NM_002890:exon1:c.A209G:p.E70G,	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome	.	1	1515	6	0	0	6	0.00197628	.	.	304910	Parkes_Weber_syndrome|not_provided|Capillary_malformation-arteriovenous_malformation_syndrome|Cardiovascular_phenotype|Capillary_malformation-arteriovenous_malformation_1	MedGen:C5574870,Orphanet:2346|MedGen:C3661900|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MedGen:CN230736|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.123	N	0.999	N	0	N	-0.76	T	-0.900	T	0.122	T	0.098	-1.458	0.019	2.38	0.387	0.130	4.875	0.059	.	0.0005	0.00179712	0.0037	0.0009	0.0002	0.0114	0.0384	0.0015	0.0090	0.0011	0.0026326	407	154602	rs146525982	0.0017	0.0017	0.0017	0.0017	0.0149	0.0016	0.0016	0.0139	0.0136	0.0001	0.0003	0	0.0149	0.0235	0.0009	0.0004	0.0015	0.0008	0.0027	0.0027	0.0014	0.0041	0.0081	0.0025	0.0024	0.0062	0.0055	0.0003	0	0.0005	0	0.0081	0.0295	0	0.0006	0	0.0008	1.0	0.00964	T	0.396	0.15206	T	0.0	0.02946	B	0.0	0.01387	B	0.123476	0.02746	N	1.879670	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	0.11	0.05706	N	0.052	0.02366	-0.8999	0.48003	T	0.122	0.42441	T	10	0.0029049218	0.00047	T	.	.	.	0.059	0.16972	.	.	0.393040851499	0.38920	0.3008769697708993	0.30000	0.0648232492716	0.07235	0.760132551193	0.75948	T	0.216343	0.57848	T	-0.514241	0.00475	T	-0.503772	0.21958	T	0.00256413328082736	0.00027	T	0.165783	0.01535	T	0.041171614	0.06014	0.06164607	0.11937	0.04668987	0.07857	0.07896158	0.17734	-0.091	0.00383	T	.	.	0.045	0.00046	B	.	.	1.991476	0.25300	16.71	0.73212089933036495	0.10247	0.00162	0.00966	N	ALL	0.013993	0.00206	N	-1.06222468438648	0.07349	0.3411247	-0.950157712791872	0.10919	0.5530959	0.999999999998492	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.26	2.38	0.28415	0.272000	0.18407	3.496000	0.38747	-0.185000	0.09859	0.013000	0.18845	1.000000	0.68203	0.797000	0.37605	0.1219:0.2177:0.6605:0.0	4.875	0.13011	683	0.59664	.	.	.	.	.	.	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	752.98	51	chr5	87268660	.	A	G	752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.852e+00;DP=767;ExcessHet=0.0000;FS=6.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=0.566;SOR=0.204	GT:AD:DP:GQ:PL	0/1:24,27:51:99:767,0,720	20	0	1	0
chr5	90689978	90689978	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon30:c.T6608C:p.V2203A,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	YES	0	1470	51	1	0	53	0.017708	.	.	55519	Usher_syndrome_type_2C|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.194	B	0.249	B	0.001	D	1.000	D	2.685	M	1.13	T	-0.725	T	0.190	T	0.49	4.579	24.9	5.36	2.025	7.763	15.384	0.355	.	0.0018	0.00239617	0.0034	0.0001	0.0009	0	0.0004	0.0032	0.0091	0.0098	0.0023544	364	154602	rs200055351	0.0022	0.0022	0.0019	0.0024	0.0184	0.0021	0.0021	0.0156	0.0145	0.0004	0.0008	0.0073	0	0.0010	0.0184	0.0016	0.0038	0.0090	0.0016	0.0016	0.0015	0.0017	0.0106	0.0014	0.0014	0.0083	0.0074	0.0003	0	0.0007	0.0095	0	0.0004	0.0272	0.0018	0.0038	0.0106	0.002	0.72154	D	0.004	0.74150	D	0.194	0.29493	B	0.249	0.38982	B	0.000861	0.41440	D	0.246545	0.999658	0.48079	D	.	.	.	1.13	0.38556	T	-3.38	0.66780	D	0.761	0.75927	-0.7245	0.59239	T	0.190	0.54198	T	10	0.009311885	0.00210	T	.	.	.	0.355	0.67600	.	.	0.706577926717	0.70402	0.6962042043904647	0.69561	0.0558218804441	0.06170	0.449944078922	0.31936	T	0.182942	0.53512	T	-0.328345	0.06238	T	-0.238307	0.50964	T	0.0525185356157373	0.05937	T	0.729427	0.34485	T	0.4285325	0.62656	0.5772997	0.75507	0.5112676	0.67754	0.55358535	0.74184	-10.066	0.74306	D	.	.	0.798	0.78051	P	.;.;.	.;.;.	3.371981	0.46602	22.3	0.99857624987460625	0.93639	0.99105	0.91299	D	AEFBI	0.896823	0.83830	D	0.37838958595883	0.60253	4.212213	0.467032345042676	0.65816	4.872094	0.999999999999443	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	7.742000	0.83928	7.899000	0.73451	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.384	0.74403	605	0.67457	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1061.98	111	chr5	90689978	.	T	C	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.630e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=1.11;SOR=0.625	GT:AD:DP:GQ:PL	0/1:60,51:111:99:1076,0,1410	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	1/1:0,118,0,0:118:99:3211,353,0,3211,353,3211,3211,353,3211,3211	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	0/1:31,45,0:76:99:1678,0,1107,1772,1242,3014	3	5	12	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC:p.Q857_T990delinsYIYIWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0003	0.0002	0.0004	0.0008	0.0003	0.0011	0.0022	3.84e-05	1	26028	rs760127445	0.0002	0.0007	0.0001	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0003	0	0.0002	0.0003	0.0003	6.589e-06	0.0003	1.289e-05	0	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:93,0,17,0,0:110:99:.:.:421,714,4624,0,3910,3859,714,4624,3910,4624,714,4624,3910,4624,4624	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:93,0,17,0,0:110:99:.:.:421,714,4624,0,3910,3859,714,4624,3910,4624,714,4624,3910,4624,4624	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA:p.Q857Yfs*7,	.	.	435	1072	3	0	12	15	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.857e-05	8.687e-05	1.94e-05	3.786e-05	0.0002	2.126e-05	1.913e-05	9.71e-06	7.73e-06	0	2.327e-05	0	0	0.0003	0.0002	1.552e-05	1.684e-05	3.656e-05	6.593e-06	0.0002	0	1.35e-05	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:93,0,17,0,0:110:99:.:.:421,714,4624,0,3910,3859,714,4624,3910,4624,714,4624,3910,4624,4624	16	0	1	0
chr5	128288437	128288437	C	T	splicing	FBN2	NM_001999:exon53:c.6757+1G>A	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2672326	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.638	25.4	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462192	0.93022	D	0.426131	0.92935	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.706657	0.93146	33	0.9956273049014901	0.71892	0.99610	0.97961	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,17,0:81:40:0|1:128288437_C_T:40,0,1807,230,1855,2085:128288437	14	0	2	1
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.514	24.3	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,17,0:81:40:0|1:128288437_C_T:40,0,1807,230,1855,2085:128288437	14	0	2	1
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.695	N	1.000	D	3.32	M	-5.39	D	1.101	D	0.983	D	0.927	4.525	24.4	4.86	2.698	7.609	18.546	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4583	1580.95	81	chr5	128288438	.	C	G	1580.95	.	AC=11;AF=0.458;AN=24;BaseQRankSum=-1.136e+00;DP=1745;ExcessHet=7.7275;FS=212.727;InbreedingCoeff=-0.5735;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=1.53;SOR=10.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,17:81:40:0|1:128288437_C_T:40,0,1807:128288437	1	0	11	9
chr5	132579896	132579896	C	T	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon5:c.C586T:p.R196C,	Nijmegen breakage syndrome-like disorder	.	7	1514	1	0	0	1	0.000330142	.	.	182519	not_provided|Nijmegen_breakage_syndrome-like_disorder|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.78	M	3.23	T	-0.572	T	0.244	T	0.884	4.376	23.1	5.54	2.764	4.363	18.830	0.335	0.101988208281	.	.	8.319e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs769853458	1.369e-05	1.437e-05	1.09e-05	1.651e-05	0.0007	8.94e-06	7.27e-06	0.0002	0.0001	0	0	0	2.524e-05	0	0.0007	1.35e-05	0	0	6.578e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	1.54	0.30133	T	-5.48	0.85692	D	0.822	0.81758	-0.5717	0.65947	T	0.244	0.61213	T	10	0.74367696	0.75135	D	0.101988	0.77519	D	0.335	0.65718	0.515	0.61459	0.747146340571	0.74486	0.6780266316933803	0.67741	.	.	0.718128204346	0.69773	T	0.155499	0.61441	T	0.23005	0.76726	D	0.108161	0.77450	D	0.995919406414032	0.88308	D	0.967103	0.88280	D	0.83663183	0.86368	0.703392	0.82518	0.83663183	0.86370	0.703392	0.82519	-8.179	0.62283	D	0.9005629068297026	0.95217	0.503	0.77190	A	.;.;.;.;.;.	.;.;.;.;.;.	5.678890	0.92986	33	0.99932535016393764	0.99439	0.96975	0.71971	D	AEFBI	0.742037	0.68578	D	0.841132401153759	0.88597	9.638584	0.797518072519191	0.89620	10.051	0.999326144949049	0.39149	0.732398	0.92422	0	0.653731	0.59785	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.54	5.54	0.82907	4.406000	0.59506	7.535000	0.59982	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.830	0.92103	824	0.40336	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type 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	1	0	0	0	0	0	0	0.02381	593.98	60	chr5	132579896	.	C	T	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=762;ExcessHet=0.0000;FS=8.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=-3.350e-01;SOR=1.981	GT:AD:DP:GQ:PL	0/1:37,23:60:99:608,0,951	20	0	1	0
chr5	135009393	135009393	G	A	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon6:c.G839A:p.R280Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.013	B	0.002	B	0.646	N	1.000	N	0.69	N	-4.23	D	-0.012	T	0.764	D	0.098	0.183	4.984	-1.15	-0.363	-0.115	9.127	0.281	0.0707527740471	.	0.000199681	1.648e-05	0	8.637e-05	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs562430942	6.844e-06	7.525e-06	1.362e-06	1.238e-05	4.638e-05	3.46e-06	2.52e-06	1.583e-05	9.3e-06	2.988e-05	0	0	0	0	0	2.699e-06	3.312e-05	4.638e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	6.535e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	6.535e-05	0	0	0	0	0	0	0	0.455	0.08865	T	0.338	0.18125	T	0.013	0.16609	B	0.002	0.06944	B	0.645589	0.05892	N	1.209870	1	0.08975	N	1.1	0.28011	L	-4.23	0.97006	D	0.31	0.04022	N	0.185	0.20129	-0.0122	0.82002	T	0.764	0.91974	D	10	0.02217409	0.00547	T	0.070753	0.71087	D	0.281	0.59861	0.242	0.17524	0.445210270852	0.44144	0.4268940398494628	0.42606	0.115934735374	0.13078	0.214875876904	0.01035	T	0.042912	0.26335	T	-0.164642	0.26048	T	-0.292745	0.45485	T	0.019832487270605	0.00685	T	0.731927	0.34732	T	0.0320931	0.03170	0.046567246	0.06520	0.0320931	0.03170	0.046567246	0.06519	-2.188	0.03983	T	.	.	0.074	0.05145	B	.	.	0.541712	0.09104	5.886	0.54121695772281531	0.05074	0.10342	0.15875	N	AEFGBCI	0.057904	0.10824	N	-1.26208618506614	0.04142	0.1863952	-1.2634943322516	0.04934	0.2339385	0.0120307437862822	0.12269	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.07	-1.15	0.09211	-0.069000	0.11501	.	.	-0.119000	0.14319	0.345000	0.25717	0.001000	0.17328	0.066000	0.16387	0.5358:0.0:0.4642:0.0	9.127	0.35982	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1655.98	152	chr5	135009393	.	G	A	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=925;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-9.280e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1670,0,1871	20	0	1	0
chr5	138084099	138084099	C	G	exonic	WNT8A	.	nonsynonymous SNV	WNT8A:NM_058244:exon1:c.C10G:p.L4V,	.	.	419	1073	28	2	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.085	B	0.039	B	0.311	N	1.000	N	2.045	M	-0.93	T	-0.911	T	0.330	T	0.238	0.010	4.065	2.86	0.313	-0.014	4.097	0.124	.	0.0003	0.00259585	0.0022	0.0001	0.0008	0	0	0.0006	0.0022	0.0130	0.0019017	294	154602	rs199755858	0.0013	0.0013	0.0008	0.0017	0.0135	0.0012	0.0012	0.0128	0.0126	5.978e-05	0.0008	0.0007	2.522e-05	0	0.0063	0.0004	0.0019	0.0135	0.0009	0.0009	0.0007	0.0011	0.0151	0.0008	0.0007	0.0123	0.0113	0.0001	0	0.0014	0	0	0	0	0.0005	0.0019	0.0151	0.011	0.55530	D	0.411	0.14500	T	0.085	0.24868	B	0.039	0.23607	B	0.310841	0.04014	N	1.485870	1	0.08975	N	1.845	0.48678	L	-0.93	0.75215	T	-0.3	0.11913	N	0.263	0.29774	-0.9110	0.46732	T	0.330	0.69800	T	10	0.005675733	0.00126	T	.	.	.	0.124	0.34239	.	.	0.043077524339	0.03247	.	.	0.288721649116	0.31282	0.242398709059	0.03010	T	0.243498	0.61244	T	-0.428893	0.01505	T	-0.377821	0.35978	T	0.0152204173942903	0.00334	T	0.445055	0.12431	T	0.052534014	0.09811	0.041121922	0.04604	0.052534014	0.09811	0.041121922	0.04604	-4.156	0.26112	T	.	.	0.061	0.01042	B	.	.	0.544666	0.09130	5.916	0.96392510233545547	0.29658	0.12593	0.17363	N	AEFBHI	0.076011	0.15280	N	-0.715330114904319	0.15591	0.7870527	-0.764274921123827	0.15372	0.8081357	0.0420248267991545	0.14509	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.542086	0.14980	0	.	.	5.61	2.86	0.32427	-0.009000	0.12703	0.592000	0.19832	0.599000	0.40250	0.006000	0.17386	0.020000	0.20764	0.004000	0.06068	0.1882:0.4908:0.0:0.321	4.097	0.09468	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	980.98	84	chr5	138084099	.	C	G	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.754e+00;DP=820;ExcessHet=0.0000;FS=5.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.220;SOR=1.434	GT:AD:DP:GQ:PL	0/1:39,45:84:99:995,0,1070	20	0	1	0
chr5	139848349	139848349	G	C	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon8:c.C1923G:p.I641M	.	.	421	1098	3	0	0	3	0.00136426	.	.	3465875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.94	D	0.000	U	1.000	D	2.095	M	0.07	T	-0.461	T	0.301	T	0.369	2.730	15.09	2.7	1.524	2.125	9.439	0.334	0.905983015323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195004358	6.064e-05	4.995e-05	4.78e-05	7.493e-05	0.0007	4.874e-05	4.441e-05	0.0001	5.678e-05	0	0.0004	7.47e-05	0	0	0.0007	5.456e-05	0.0002	0	6.724e-05	6.577e-05	7.88e-05	5.511e-05	0.0002	3.594e-05	2.772e-05	5.406e-05	2.868e-05	0	0	0.0002	0	0	0	0	8.937e-05	0.0005	0	0.003	0.68238	D	0.113	0.52389	T	0.989	0.70673	D	0.901	0.67560	P	0.000393	0.44960	U	0.098581	0.917607	0.81001	D	2.215	0.62545	M	0.07	0.61677	T	-1.14	0.29323	N	0.36	0.54234	-0.4607	0.70044	T	0.301	0.67251	T	10	0.5408782	0.63712	D	0.905983	0.99296	D	0.334	0.65620	0.591	0.71999	0.565485592371	0.56212	0.22651146949524448	0.22566	1.85165128297	0.92292	0.970126271248	0.99979	D	0.414817	0.76826	T	-0.00684442	0.50707	T	-0.247608	0.50053	T	0.914592862129211	0.57130	D	0.89721	0.65873	D	0.5682571	0.70965	0.4644098	0.68913	0.5682571	0.70966	0.4644098	0.68913	-4.618	0.33585	T	.	.	0.671	0.71762	P	.;.;.;.;.;.	.;.;.;.;.;.	4.269490	0.64944	24.8	0.9937308392619093	0.61541	0.63717	0.32176	D	ALL	0.159924	0.28579	N	0.335587560934111	0.57983	3.968134	0.225156713073415	0.51246	3.308913	0.99999847800654	0.74766	0.443343	0.08805	1	0.218748	0.04544	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	2.7	2.7	0.31007	1.347000	0.33580	7.757000	0.68234	0.460000	0.21577	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.7876:0.2124	9.439	0.37821	22	0.98466	Neuregulin, C-terminal;.;Neuregulin, 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	187.98	41	chr5	139848349	.	G	C	187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.620e-01;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.58;ReadPosRankSum=-1.093e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:28,13:41:99:202,0,612	20	0	1	0
chr5	140787137	140787137	A	G	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.A847G:p.S283G	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.065	B	0.154	B	0.107	U	1.000	N	1.385	L	4.08	T	-0.956	T	0.011	T	0.035	0.019	4.114	1.41	0.569	0.075	3.908	0.020	0.00400950442297	.	.	2.473e-05	0	0	0	0	2.999e-05	0.0011	0	1.94e-05	3	154602	rs782040077	1.368e-05	1.368e-05	1.361e-05	1.375e-05	0.0005	8.94e-06	7.26e-06	0.0001	7.541e-05	0	2.239e-05	0	0	0	0.0005	1.349e-05	1.656e-05	0	1.313e-05	1.313e-05	1.284e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	0.182	0.28520	T	0.21	0.26714	T	0.053	0.23521	B	0.031	0.34351	B	0.107284	0.19577	U	0.424135	1	0.08975	N	1.76	0.45711	L	4.08	0.03003	T	-2.97	0.62747	D	0.019	0.00717	-0.9557	0.39970	T	0.011	0.03996	T	10	0.06553456	0.08856	T	0.00401	0.09525	T	0.020	0.03691	0.293	0.25560	0.302459207581	0.29844	0.033563949502938645	0.03304	0.280792333993	0.30555	.	.	.	0.248289	0.61807	T	-0.429791	0.01487	T	-0.791495	0.02124	T	0.166309356689453	0.18325	T	0.157784	0.01407	T	0.0842751	0.19500	0.072396174	0.15614	0.0842751	0.19500	0.072396174	0.15613	-5.94	0.47346	T	.	.	0.066	0.02639	B	.;.;.	.;.;.	1.960801	0.24906	16.57	0.86089766213253616	0.16306	0.05006	0.10783	N	AEFDGBI	0.101323	0.20352	N	-0.785690990854002	0.13682	0.6757875	-0.814810053453028	0.14137	0.7371124	0.287347400820363	0.19050	0.516011	0.20929	0	0.573888	0.26702	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	4.06	1.41	0.21461	0.031000	0.13598	.	.	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.6398:0.0:0.2004:0.1598	3.908	0.08691	19	0.98577	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2992.98	231	chr5	140787137	.	A	G	2992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.163e+00;DP=1079;ExcessHet=0.0000;FS=1.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.167;SOR=0.776	GT:AD:DP:GQ:PL	0/1:113,118:231:99:3007,0,3194	20	0	1	0
chr5	140850693	140850693	C	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C2198G:p.A733G	.	.	442	1030	45	5	0	55	0.0260047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.006	N	1.000	N	-0.78	N	2.77	T	-0.924	T	0.009	T	0.081	-2.413	0.003	1.5	0.043	-0.047	13.667	0.041	.	0.0005	0.00678914	0.0063	0.0002	0.0015	0.0001	0	0.0007	0.0111	0.0415	0.0054333	840	154602	rs138234390	0.0030	0.0030	0.0018	0.0041	0.0394	0.0029	0.0029	0.0383	0.0378	0.0002	0.0012	0.0014	0.0002	0	0.0105	0.0005	0.0040	0.0394	0.0016	0.0016	0.0010	0.0021	0.0340	0.0014	0.0013	0.0297	0.0280	0.0003	0	0.0015	0.0006	0	0	0.0210	0.0004	0.0014	0.0340	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.006390	0.32067	N	0.000000	0.999999	0.08975	N	-0.99	0.01185	N	2.77	0.11407	T	2.36	0.00310	N	0.083	0.05929	-0.9242	0.44971	T	0.009	0.03403	T	10	0.0024614036	0.00037	T	.	.	.	0.041	0.10877	.	.	0.239305524855	0.23518	0.07940304107957419	0.07875	.	.	.	.	.	1.62E-4	0.00025	T	-0.693607	0.00040	T	-0.819536	0.01462	T	0.00586151255596773	0.00064	T	0.20168	0.03740	T	0.018968089	0.00421	0.046305787	0.06424	0.018968089	0.00421	0.046305787	0.06423	-4.812	0.37939	T	.	.	0.062	0.04041	B	.;.	.;.	-0.193616	0.03122	0.499	0.60644728228370959	0.06513	0.00357	0.01833	N	AEFDBI	0.033054	0.03850	N	-1.5191799375624	0.01723	0.07544431	-1.44704006132078	0.02797	0.1293107	1.79492614263866E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.51	1.5	0.22029	-0.767000	0.04826	.	.	-0.448000	0.05150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.476:0.5239:0.0	13.667	0.61877	32	0.98147	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4021.98	311	chr5	140850693	.	C	G	4021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=3610;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.230;SOR=0.581	GT:AD:DP:GQ:PL	0/1:152,156:311:99:4036,0,3444	20	0	1	0
chr5	140884535	140884535	C	G	exonic	PCDHA13	.	nonsynonymous SNV	PCDHA13:NM_018904:exon1:c.C2267G:p.P756R	.	.	419	1053	49	1	0	51	0.0236439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.001	B	0.002	B	.	.	1.000	N	0	N	2.9	T	-0.948	T	0.015	T	0.214	0.243	5.314	2.02	0.613	0.708	11.497	0.022	.	0.0004	0.00678914	0.0061	0.0002	0.0015	0.0002	0	0.0007	0.0100	0.0400	0.0052328	809	154602	rs142468733	0.0028	0.0028	0.0018	0.0039	0.0378	0.0028	0.0027	0.0367	0.0363	0.0002	0.0011	0.0012	0.0002	0	0.0097	0.0004	0.0037	0.0378	0.0015	0.0015	0.0010	0.0021	0.0328	0.0014	0.0013	0.0286	0.0270	0.0003	0	0.0014	0.0006	0	0	0.0205	0.0004	0.0014	0.0328	0.432	0.09486	T	0.344	0.35840	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.81001	D	0.49	0.13296	N	2.9	0.10101	T	1.29	0.00961	N	0.129	0.20262	-0.9477	0.41364	T	0.015	0.05897	T	9	0.0030344129	0.00050	T	.	.	.	0.022	0.04323	.	.	0.218112801441	0.21410	0.2361661489629874	0.23531	.	.	.	.	.	0.021645	0.16823	T	-0.618442	0.00112	T	-0.631849	0.10275	T	0.00878847322351521	0.00108	T	0.673133	0.30512	T	0.03787378	0.04938	0.0711216	0.15192	0.03787378	0.04938	0.0711216	0.15191	-2.804	0.25364	T	.	.	0.066	0.05404	B	.;.;.	.;.;.	1.321562	0.17257	13.05	0.75508712818316182	0.11102	0.24498	0.22412	N	AEFDBCI	0.157813	0.28338	N	-0.853937309411729	0.11953	0.5798126	-0.702588075416452	0.16896	0.8959734	0.0341342033371972	0.14140	0.475244	0.09938	2	0.573888	0.26702	0	0.641878	0.46077	1	0.613276	0.41899	0	.	.	4.61	2.02	0.25641	1.128000	0.30982	.	.	-0.045000	0.17359	0.036000	0.20778	0.655000	0.25985	0.707000	0.34357	0.5736:0.4264:0.0:0.0	11.497	0.49662	74	0.96871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1982.98	134	chr5	140884535	.	C	G	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=938;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-2.160e-01;SOR=0.738	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1997,0,1412	20	0	1	0
chr5	141137224	141137224	A	T	exonic	PCDHB5	.	nonsynonymous SNV	PCDHB5:NM_015669:exon1:c.A1790T:p.Q597L,	.	.	3	1518	1	0	0	1	0.000329272	.	.	3368043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	.	.	0.633	N	1.835	L	0.7	T	-0.584	T	0.241	T	0.502	3.556	18.13	3.47	0.736	4.903	10.222	0.321	0.0337892163742	.	.	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs782784619	3.839e-05	3.899e-05	1.637e-05	6.063e-05	0.0006	3.032e-05	2.725e-05	0.0005	0.0004	0	0	0	0	0	0	8.996e-07	3.322e-05	0.0006	3.939e-05	3.937e-05	1.285e-05	6.713e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.632587	0.30685	N	.	.	.	0.7	0.51474	T	-6.16	0.90215	D	0.414	0.45426	-0.5841	0.65455	T	0.241	0.60869	T	9	0.32976887	0.50225	T	0.033789	0.55227	D	0.321	0.64318	0.717	0.85230	0.279370189704	0.27548	0.4360042676986643	0.43517	0.819490523936	0.67094	0.544960021973	0.45146	T	0.080027	0.36266	T	-0.266624	0.12137	T	-0.2566	0.49163	T	0.571434940462683	0.35289	D	0.588541	0.21576	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.52483	B	.;.	.;.	3.174943	0.43070	21.7	0.99315477813434283	0.59166	0.96315	0.68539	D	AEFBI	0.704147	0.65996	D	0.435668150790107	0.63396	4.572399	0.370861909742084	0.59775	4.158218	0.00459742344135931	0.10632	0.660377	0.49826	0	0.547309	0.14657	0	0.696353	0.63694	0	0.620846	0.47308	0	.	.	4.65	3.47	0.38831	4.979000	0.63525	.	.	0.377000	0.20376	0.944000	0.32806	0.997000	0.33255	0.618000	0.31844	0.9195:0.0:0.0805:0.0	10.222	0.42382	550	0.72197	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1446.98	122	chr5	141137224	.	A	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.076e+00;DP=1409;ExcessHet=0.0000;FS=5.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.99;MQRankSum=7.23;QD=11.86;ReadPosRankSum=0.617;SOR=0.918	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1461,0,1650	20	0	1	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.758	P	0.516	P	.	.	1.000	N	1.855	L	4.57	T	-0.969	T	0.012	T	0.448	1.619	11.37	2.79	0.455	-0.994	4.291	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	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	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,24,26:186:75:.:.:75,0,4892,102,2969,2983	5	0	5	9
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	-0.505	N	4.98	T	-0.901	T	0.002	T	0.037	-0.559	1.475	2.79	0.455	-0.994	4.291	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,24,26:186:75:.:.:75,0,4892,102,2969,2983	5	0	5	9
chr5	141224029	141224029	A	G	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.A524G:p.N175S,	.	.	431	1071	20	0	0	20	0.00925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.966	D	0.573	P	.	.	0.959	N	2.365	M	0.73	T	-0.758	T	0.297	T	0.031	2.459	14.18	1.2	0.033	2.020	5.639	0.232	.	7.7e-05	0.00399361	0.0034	0.0002	8.64e-05	0.0001	0	0.0003	0.0033	0.0237	0.0029883	462	154602	rs200378467	0.0015	0.0015	0.0009	0.0022	0.0221	0.0015	0.0015	0.0213	0.0210	2.991e-05	0.0002	0.0010	0.0002	0	0.0042	0.0001	0.0020	0.0221	0.0008	0.0008	0.0005	0.0011	0.0190	0.0007	0.0006	0.0159	0.0147	7.217e-05	0	0.0007	0.0006	0	0	0.0034	0.0002	0.0019	0.0190	0.049	0.39820	D	0.064	0.44905	T	0.966	0.56202	D	0.573	0.49966	P	.	.	.	.	0.95908	0.26200	N	1.86	0.49225	L	0.73	0.50721	T	-4.55	0.78553	D	0.171	0.37197	-0.7585	0.57487	T	0.297	0.66830	T	9	0.0061300397	0.00138	T	.	.	.	0.232	0.53354	.	.	0.741568591866	0.73925	0.04510056476940279	0.04454	0.275151034729	0.29997	0.2640440166	0.05381	T	0.043956	0.26664	T	-0.616578	0.00115	T	-0.640862	0.09606	T	0.0627792979981834	0.07599	T	0.856914	0.54589	D	0.13261251	0.30873	0.1652232	0.38233	0.13261251	0.30873	0.1652232	0.38233	-5.898	0.49603	T	.	.	0.072	0.07937	B	.;.	.;.	2.168090	0.27628	17.53	0.98286689661757454	0.39907	0.94622	0.61769	D	AEFBI	0.343104	0.43903	N	0.19959961650068	0.51179	3.301366	0.128840942202755	0.46030	2.855851	0.341564612655079	0.19589	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.02	1.2	0.20181	2.515000	0.45172	.	.	0.756000	0.94297	0.943000	0.32764	0.000000	0.08366	0.993000	0.69303	0.6983:0.1444:0.1573:0.0	5.639	0.16829	688	0.59122	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	2627.98	175	chr5	141224029	.	A	G	2627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.900e-01;DP=923;ExcessHet=0.0000;FS=0.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.242;SOR=0.772	GT:AD:DP:GQ:PL	0/1:76,99:175:99:2642,0,1918	20	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,46,14:183:99:.:.:1307,0,4377,581,4266,4841	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,46,14:183:99:.:.:1307,0,4377,581,4266,4841	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	0/1:125,62:187:99:.:.:1375,0,4403	1	0	20	0
chr5	141361949	141361949	C	A	exonic	PCDHGB2	.	nonsynonymous SNV	PCDHGB2:NM_018923:exon1:c.C1814A:p.S605Y	.	.	40	1417	59	6	0	71	0.0244406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.995	M	0.61	T	-0.609	T	0.348	T	0.657	3.208	16.74	3.94	1.147	4.646	12.961	0.453	.	0.0007	0.0111821	0.0094	0.0008	0.0010	0	0	0.0024	0.0099	0.0485	0.0035731	93	26028	rs202129585	0.0039	0.0039	0.0025	0.0053	0.0453	0.0038	0.0038	0.0442	0.0437	0.0003	0.0008	0.0043	0.0001	0.0002	0.0201	0.0011	0.0049	0.0453	0.0026	0.0026	0.0018	0.0034	0.0445	0.0024	0.0023	0.0396	0.0378	0.0002	0	0.0015	0.0040	0.0004	9.422e-05	0.0238	0.0016	0.0038	0.0445	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.92359	D	.	.	.	.	1	0.81001	D	3.76	0.95097	H	0.61	0.53516	T	-5.11	0.83092	D	0.667	0.68169	-0.6087	0.64458	T	0.348	0.71289	T	9	0.012059331	0.00261	T	.	.	.	0.453	0.75279	.	.	0.761273591808	0.75910	0.5139250221706769	0.51314	.	.	.	.	.	0.064256	0.32388	T	-0.245092	0.14705	T	-0.0905257	0.64122	T	0.0981431249967783	0.12151	T	0.937306	0.81867	D	0.7034151	0.78244	0.70926154	0.82853	0.7034151	0.78245	0.70926154	0.82854	-14.381	0.95005	D	.	.	0.392	0.59148	A	.;.	.;.	4.209486	0.63584	24.6	0.99200775043280909	0.55261	0.98332	0.81714	D	AEFBI	0.752301	0.69284	D	0.605565791628079	0.73526	5.980558	0.510155191627467	0.68672	5.252489	0.965311217015781	0.28822	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	4.81	3.94	0.44807	3.899000	0.56000	.	.	0.544000	0.25403	0.990000	0.36992	0.999000	0.35428	0.998000	0.85391	0.0:0.9194:0.0:0.0806	12.961	0.57857	648	0.63242	.;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	0.02381	2195.98	120	chr5	141361949	.	C	A	2195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.897;DP=967;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.39;MQRankSum=-4.850e-01;QD=18.30;ReadPosRankSum=0.511;SOR=0.556	GT:AD:DP:GQ:PL	0/1:52,68:120:99:2210,0,1640	20	0	1	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	0/1:192,88:280:99:264,0,3581	6	0	15	0
chr5	146000178	146000178	A	G	exonic	SH3RF2	.	nonsynonymous SNV	SH3RF2:NM_152550:exon3:c.A499G:p.I167V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.152	N	0.882	N	-0.195	N	3.35	T	-0.913	T	0.007	T	0.123	-1.187	0.079	-1.46	-0.222	0.114	9.102	0.040	0.00619057959863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.02899	T	0.996	0.02331	T	0.001	0.07471	B	0.004	0.10090	B	0.151732	0.17945	N	0.602245	0.881981	0.28033	N	-0.075	0.04822	N	3.35	0.05989	T	-0.38	0.13418	N	0.221	0.25377	-0.9128	0.46505	T	0.007	0.02282	T	10	0.08809829	0.15136	T	0.006191	0.16229	T	0.040	0.10527	0.447	0.50629	0.119812018005	0.11559	0.22573118891151897	0.22488	0.102646631919	0.11614	0.366899818182	0.20386	T	0.007703	0.07089	T	-0.34353	0.05148	T	-0.731233	0.04272	T	0.0383459664881229	0.03393	T	0.784922	0.42251	T	0.032080207	0.03167	0.031015221	0.01634	0.032080207	0.03167	0.031015221	0.01634	-2.973	0.09893	T	.	.	0.076	0.07602	B	.;.	.;.	0.442643	0.08128	4.858	0.45178844068321977	0.03527	0.62088	0.31676	D	AEFBI	0.120747	0.23508	N	-1.22830409015924	0.04593	0.2076501	-1.06317563615386	0.08434	0.4147031	0.132864112420316	0.17125	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.17	-1.46	0.08338	0.327000	0.19408	0.341000	0.17381	-0.562000	0.04833	0.883000	0.31049	0.365000	0.24540	0.296000	0.24405	0.4153:0.125:0.4596:0.0	9.102	0.35837	770	0.49152	SH3 domain|SH3 domain|SH3 domain|E3 ubiquitin-protein ligase SH3RF2, first SH3 domain;SH3 domain|SH3 domain|SH3 domain|E3 ubiquitin-protein ligase SH3RF2, first SH3 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	1009.98	113	chr5	146000178	.	A	G	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.358e+00;DP=815;ExcessHet=0.0000;FS=1.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=-1.530e-01;SOR=0.903	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1024,0,1568	20	0	1	0
chr5	146515938	146515938	C	T	exonic	GPR151	.	nonsynonymous SNV	GPR151:NM_194251:exon1:c.G176A:p.G59D,	.	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.884	P	0.361	B	0.002	N	0.985	D	1.1	L	1.2	T	-1.083	T	0.081	T	0.704	2.310	13.68	5.86	2.771	2.483	14.562	0.139	0.00405651127883	7.7e-05	0.000399361	0.0003	9.612e-05	0	0	0.0002	0.0002	0	0.0015	0.0002523	39	154602	rs200132270	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0020	0.0019	2.987e-05	0.0001	0.0003	0	0.0002	0.0017	5.126e-05	0.0004	0.0023	8.544e-05	8.532e-05	7.713e-05	9.413e-05	0.0013	4.958e-05	3.963e-05	0.0005	0.0004	0	0	0	0.0006	0	0	0	5.882e-05	0.0005	0.0013	0.066	0.36113	T	0.07	0.43721	T	0.884	0.48618	P	0.361	0.43233	B	0.002232	0.36970	N	0.265160	0.98468	0.40179	D	1.935	0.51832	L	1.2	0.37405	T	-1.86	0.43524	N	0.476	0.51137	-1.0835	0.06683	T	0.081	0.31972	T	10	0.031108499	0.01242	T	0.004057	0.09681	T	0.139	0.37390	.	.	0.659056841285	0.65620	0.6735879380941323	0.67296	0.205634996662	0.22987	0.448675334454	0.31763	T	0.32764	0.69813	T	-0.275521	0.11148	T	-0.175807	0.56910	T	0.10915940605662	0.13336	T	0.673133	0.28166	T	0.8577898	0.87918	0.85451937	0.91808	0.8577898	0.87919	0.85451937	0.91809	-8.246	0.62734	D	.	.	0.599	0.68838	P	.	.	3.343270	0.46082	22.2	0.99030829538921594	0.50786	0.76984	0.37803	D	AEFBCI	0.241605	0.36319	N	0.348146780608969	0.58643	4.037694	0.445643835389782	0.64437	4.698954	0.995660742710073	0.34254	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.645665	0.59343	0	.	.	5.86	5.86	0.93936	1.774000	0.38203	3.983000	0.40922	0.599000	0.40250	0.809000	0.29839	0.999000	0.35428	0.998000	0.85391	0.0:0.8537:0.1463:0.0	14.562	0.67739	920	0.19381	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	2033.98	159	chr5	146515938	.	C	T	2033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=1002;ExcessHet=0.0000;FS=0.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.646;SOR=0.617	GT:AD:DP:GQ:PL	0/1:77,82:159:99:2048,0,1888	20	0	1	0
chr5	151664129	151664129	T	G	exonic	SPARC	.	nonsynonymous SNV	SPARC:NM_001309443:exon9:c.A838C:p.I280L	Osteogenesis imperfecta, type XVII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.238	B	0.637	P	0.000	D	1.000	D	2.08	M	1.52	T	-0.796	T	0.174	T	0.758	4.808	27.2	5.44	2.063	4.657	15.497	0.268	0.0593501709042	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs754806128	8.209e-06	8.209e-06	8.167e-06	8.25e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.238	0.30817	B	0.637	0.51992	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.635	0.77114	M	1.52	0.30669	T	-1.75	0.41428	N	0.774	0.77132	-0.7962	0.55368	T	0.174	0.51753	T	10	0.8734653	0.86624	D	0.05935	0.67635	D	0.268	0.58254	0.812	0.92788	0.530035883213	0.52651	0.9249864486135364	0.92475	1.12556060977	0.78443	0.698362112045	0.66908	T	0.396241	0.75492	T	0.0719307	0.61084	D	-0.134453	0.60596	T	0.755108257362053	0.43572	D	0.907009	0.67171	D	0.7109513	0.78660	0.5374652	0.73271	0.7109513	0.78661	0.5374652	0.73271	-3.998	0.23774	T	0.1958746711537339	0.25855	0.382	0.58570	A	.	.	3.690736	0.52580	23.3	0.99417436796256164	0.63597	0.91509	0.53680	D	ALL	0.877315	0.80187	D	0.296938528489004	0.55994	3.763521	0.360471602509739	0.59142	4.089538	0.99999999999986	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	5.44	5.44	0.79348	4.636000	0.61037	5.023000	0.46762	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.497	0.75391	879	0.29470	SPARC/Testican, calcium-binding domain|EF-Hand 1, calcium-binding site	.	.	.	.	.	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	909.98	78	chr5	151664129	.	T	G	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=786;ExcessHet=0.0000;FS=0.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-5.200e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:40,38:78:99:924,0,991	20	0	1	0
chr5	154813944	154813944	G	A	exonic	LARP1	.	nonsynonymous SNV	LARP1:NM_001367715:exon18:c.G2323A:p.G775S	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.008	N	0.991	N	0	N	2.03	T	-0.965	T	0.017	T	0.139	-1.772	0.010	-3.29	-0.633	-1.195	9.866	0.021	0.00550136075404	0.0002	0.000199681	0.0002	9.667e-05	0.0005	0	0	0.0003	0	6.058e-05	0.0001682	26	154602	rs372005840	0.0001	0.0001	8.712e-05	0.0001	0.0010	9.401e-05	8.883e-05	0.0005	0.0003	2.987e-05	0.0003	0	2.519e-05	0	0.0010	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.701e-05	0.0002	0.0001	2.408e-05	0	0.0004	0	0	0	0.0034	0.0002	0	0.0004	1.0	0.00964	T	0.915	0.02917	T	0.001	0.07471	B	0.003	0.08700	B	0.008434	0.30846	N	0.313898	0.991139	0.24077	N	.	.	.	2.03	0.20959	T	2.08	0.00371	N	0.13	0.12484	-0.9646	0.38290	T	0.017	0.07140	T	10	0.008248866	0.00187	T	0.005501	0.14166	T	0.021	0.04004	.	.	0.128874641272	0.12493	0.09191076215432191	0.09124	0.616218046661	0.56088	0.302774041891	0.10816	T	.	.	.	-0.508936	0.00509	T	-0.671269	0.07527	T	0.0131861630116676	0.00233	T	0.622938	0.23989	T	.	.	.	.	.	.	.	.	-5.155	0.38481	T	.	.	0.077	0.06433	B	.	.	0.101136	0.05025	1.576	0.75951104720382223	0.11275	0.10434	0.15942	N	AEFDBCI	0.038733	0.05523	N	-1.48451589208876	0.01959	0.08601404	-1.46429508758941	0.02643	0.1219341	0.999997591487224	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.71	-3.29	0.04706	-1.210000	0.03109	-1.458000	0.05393	-0.272000	0.06708	0.079000	0.22314	0.000000	0.08366	0.960000	0.51673	0.3875:0.0:0.6125:0.0	9.866	0.40309	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	991.98	89	chr5	154813944	.	G	A	991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=799;ExcessHet=0.0000;FS=4.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=1.12;SOR=0.356	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1006,0,1091	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:71,48:127:99:496,0,1189	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,413,0:413:99:.:.:18412,1251,0,18412,1251,18412	0	12	1	0
chr5	168502030	168502030	G	A	exonic	RARS1	.	nonsynonymous SNV	RARS1:NM_002887:exon9:c.G982A:p.V328I,	.	.	451	1042	27	2	0	31	0.0146572	.	.	369735	RARS1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.72	T	0.003	B	0.014	B	0.000	N	0.897	N	-0.025	N	-0.24	T	-1.032	T	0.083	T	0.072	-0.765	0.773	3.99	0.904	2.042	9.332	0.080	.	0.0036	0.0103834	0.0084	0.0015	0.0022	0	0.0006	0.0057	0.0033	0.0357	0.0076648	1185	154602	rs62385662	0.0069	0.0071	0.0061	0.0078	0.0349	0.0068	0.0068	0.0338	0.0334	0.0008	0.0026	0.0052	5.211e-05	0.0015	0.0121	0.0058	0.0060	0.0349	0.0047	0.0047	0.0043	0.0051	0.0349	0.0044	0.0043	0.0306	0.0290	0.0009	0	0.0056	0.0035	0	0.0008	0.0102	0.0058	0.0043	0.0349	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.014	0.16862	B	0.000002	0.62929	N	0.097391	0.897314	0.27769	N	0.09	0.08384	N	-0.24	0.66834	T	0.34	0.03824	N	0.132	0.12770	-1.0317	0.19905	T	0.083	0.32499	T	10	0.0030251145	0.00050	T	.	.	.	0.080	0.23350	.	.	0.327952845175	0.32413	0.2619038956411178	0.26104	0.102547148588	0.11607	0.240840762854	0.02866	T	0.092985	0.39118	T	-0.539611	0.00337	T	-0.523516	0.19940	T	0.000982415210076527	0.00009	T	0.748625	0.36937	T	0.029705701	0.02508	0.03727165	0.03346	0.029705701	0.02508	0.03727165	0.03346	-3.975	0.23428	T	0.07787395530918212	0.03689	0.070	0.03407	B	.	.	0.481741	0.08514	5.274	0.19889733911019364	0.00691	0.27502	0.23295	N	AEFBI	0.054241	0.09844	N	-0.710132157647346	0.15736	0.7956725	-0.50197793115811	0.22099	1.198669	0.999279479482713	0.38974	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	3.99	0.45527	2.019000	0.40620	1.065000	0.23755	-0.704000	0.03997	1.000000	0.71638	0.459000	0.24993	0.429000	0.27427	0.8443:0.0:0.1557:0.0	9.332	0.37191	972	0.05671	Arginyl-tRNA synthetase, catalytic core domain|Arginyl-tRNA synthetase, catalytic core 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	772.98	92	chr5	168502030	.	G	A	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=766;ExcessHet=0.0000;FS=3.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-1.536e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/1:57,35:92:99:787,0,1200	20	0	1	0
chr5	169803138	169803138	G	A	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon26:c.G2635A:p.V879I,	Immunodeficiency 40, Autosomal recessive	.	430	1090	2	0	0	2	0.00091659	.	.	830644	Inborn_genetic_diseases|DOCK2_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.0	B	0.490	N	1.000	D	0	N	2.09	T	-1.006	T	0.025	T	0.087	0.947	8.861	1.56	0.336	0.306	4.067	0.007	0.00269357846888	0.0002	0.000199681	0.0002	0	0.0003	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs150884555	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.767e-05	0.0003	0.0003	2.987e-05	0.0005	0.0022	0	0	0.0005	4.496e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	8.658e-05	7.251e-05	0.0003	0.0002	0	0	0.0005	0.0020	0	0	0	5.879e-05	0.0005	0	0.468	0.08969	T	0.501	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	0.489717	0.05029	N	1.281640	0.999995	0.58761	D	0.69	0.16971	N	2.09	0.20122	T	-0.26	0.14978	N	0.08	0.12770	-1.0055	0.28307	T	0.025	0.10821	T	10	0.0056284964	0.00125	T	0.002694	0.05521	T	0.007	0.00512	.	.	0.20808081866	0.20439	0.045454962341316026	0.04489	0.421046256566	0.42620	0.338476389647	0.16210	T	0.042258	0.26123	T	-0.542034	0.00326	T	-0.694405	0.06137	T	0.00449573900550604	0.00048	T	0.682032	0.30359	T	0.025074845	0.01405	0.026237363	0.00703	0.025074845	0.01404	0.026237363	0.00703	-3.358	0.14497	T	.	.	0.071	0.09385	B	.;.;.;.	.;.;.;.	0.836350	0.12081	8.633	0.86080474388631834	0.16301	0.34973	0.25193	N	ALL	0.062718	0.12073	N	-0.944375300040142	0.09820	0.4664356	-0.821364841282276	0.13978	0.7280147	1.0	0.98316	0.631515	0.41029	0	0.697927	0.68747	0	0.658983	0.55881	0	0.566403	0.31848	0	.	.	5.44	1.56	0.22423	0.333000	0.19512	1.290000	0.25406	-0.153000	0.12021	0.202000	0.24332	0.769000	0.26685	0.471000	0.28363	0.1326:0.2355:0.5106:0.1214	4.067	0.09341	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	1	0	0	0	0.02381	1065.98	108	chr5	169803138	.	G	A	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.550e-01;DP=828;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-8.660e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1080,0,1468	20	0	1	0
chr6	6625004	6625004	T	G	exonic	LY86	.	nonsynonymous SNV	LY86:NM_004271:exon2:c.T215G:p.I72S,	.	.	537	980	5	0	0	5	0.00254453	.	.	3449329	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.956	P	0.947	D	0.690	N	1.000	N	1.59	L	0.96	T	-1.006	T	0.124	T	0.583	3.072	16.25	4.08	1.993	1.373	9.043	0.213	0.0220517237883	0.0005	0.000199681	0.0011	0.0003	0.0007	0	0.0005	0.0016	0.0078	0.0009	0.0006339	98	154602	rs142377958	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0	7.538e-05	4.055e-05	0	0.0009	0	0.0002	0.0005	0.0010	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	4.81e-05	0	0.0002	0	0.0002	0.0011	0	0.0003	0	0.0004	0.013	0.53900	D	0.004	0.74150	D	0.956	0.54666	P	0.947	0.68407	D	0.690052	0.10184	N	0.856006	0.999963	0.18878	N	2.015	0.55033	M	0.96	0.42888	T	-2.43	0.53258	N	0.604	0.62188	-1.0062	0.28095	T	0.124	0.42694	T	10	0.15228179	0.28767	T	0.022052	0.44897	T	0.213	0.50496	.	.	0.597897742083	0.59469	0.7460244882594081	0.74548	0.055780197225	0.06166	0.416569828987	0.27366	T	0.549036	0.84697	D	-0.349318	0.04771	T	-0.324989	0.42026	T	0.0519274303869505	0.05834	T	0.745725	0.36599	T	0.52061373	0.68294	0.2633731	0.52142	0.52061373	0.68295	0.2633731	0.52141	-4.293	0.28079	T	.	.	0.807	0.77631	P	.;.	.;.	4.520772	0.70884	25.6	0.99357756041688616	0.60862	0.29554	0.23852	N	AEBIJ	0.208364	0.33445	N	0.226450668191904	0.52485	3.422264	0.135614723311456	0.46385	2.885278	0.754531296989716	0.23412	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.26	4.08	0.46880	1.558000	0.35917	4.991000	0.46528	0.665000	0.62972	0.321000	0.25511	0.999000	0.35428	0.996000	0.76049	0.0:0.0872:0.0:0.9128	9.043	0.35489	968	0.07033	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition 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	722.98	56	chr6	6625004	.	T	G	722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.596e+00;DP=742;ExcessHet=0.0000;FS=1.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=2.64;SOR=0.527	GT:AD:DP:GQ:PL	0/1:27,29:56:99:737,0,729	20	0	1	0
chr6	10529036	10529036	C	T	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_001374747:exon1:c.C125T:p.A42V	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.048	B	0.062	B	0.085	N	1.000	N	0.895	L	2.95	T	-0.960	T	0.009	T	0.582	2.857	15.52	1.64	0.272	-0.092	5.605	0.093	0.00466600282128	.	.	4.12e-05	0	0	0	0	7.492e-05	0	0	3.23e-05	5	154602	rs202087994	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0002	4.96e-06	3.82e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	4.497e-06	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.17857	T	0.048	0.22112	B	0.062	0.26930	B	0.084687	0.02391	N	1.839040	1	0.08975	N	0.805	0.20218	L	2.95	0.09635	T	-1.55	0.37566	N	0.103	0.08646	-0.9603	0.39124	T	0.009	0.03096	T	10	0.048434287	0.04295	T	0.004666	0.11566	T	0.093	0.26882	.	.	0.107399877778	0.10242	0.39929158493672473	0.39844	0.0142716862042	0.01358	.	.	.	0.024353	0.18420	T	-0.225443	0.17256	T	-0.431158	0.29803	T	0.122751161456108	0.14697	T	.	.	.	0.20663416	0.42844	0.123994924	0.29893	0.20663416	0.42844	0.123994924	0.29892	-3.912	0.22482	T	.	.	0.093	0.14201	B	.;.	.;.	1.556073	0.19936	14.51	0.96955877766923815	0.31759	0.07590	0.13600	N	AEFGBHCI	0.133961	0.25380	N	-0.750208917994129	0.14628	0.7302463	-0.725475358198361	0.16328	0.8632002	0.999998488630554	0.74766	0.40479	0.06251	1	0.484254	0.07192	0	0.547309	0.15389	0	0.665054	0.64577	0	.	.	5.43	1.64	0.22949	-0.169000	0.09900	-0.108000	0.11862	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.928000	0.46473	0.0:0.4978:0.2694:0.2328	5.605	0.16655	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	99	chr6	10529036	.	C	T	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.750e-01;DP=828;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-9.600e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1188,0,1397	20	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:44,3,14:61:28:28,110,1786,0,873,789	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	0/2:44,3,14:61:28:28,110,1786,0,873,789	2	0	6	2
chr6	24454130	24454130	C	T	exonic	GPLD1	.	nonsynonymous SNV	GPLD1:NM_001503:exon14:c.G1220A:p.R407H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.027	B	0.024	B	0.051	N	1.000	N	0.805	L	-0.28	T	-1.022	T	0.059	T	0.133	1.227	9.977	-0.484	-0.327	-0.892	5.085	0.023	0.0165257471007	.	.	4.133e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs747620971	3.968e-05	4.036e-05	3.131e-05	4.813e-05	0.0005	3.113e-05	2.847e-05	0.0003	0.0003	2.987e-05	4.473e-05	0	0	0	0	9.893e-06	8.28e-05	0.0005	1.972e-05	2.627e-05	3.855e-05	0	0.0002	5.24e-06	2.45e-06	5.288e-05	2.836e-05	0	0	0.0002	0	0	0	0	0	0	0	0.395	0.10659	T	0.277	0.21880	T	0.027	0.19556	B	0.024	0.20255	B	0.051001	0.23020	N	0.376456	1	0.08975	N	1.03	0.25572	L	-0.28	0.67543	T	-0.86	0.23372	N	0.107	0.09207	-1.0222	0.22998	T	0.059	0.24871	T	10	0.03774014	0.02147	T	0.016526	0.37830	T	0.023	0.04649	0.393	0.41770	0.380052290102	0.37618	0.36834111612526715	0.36748	0.103170953858	0.11667	0.206366121769	0.00666	T	0.030792	0.21743	T	-0.438071	0.01328	T	-0.545069	0.17802	T	0.0354474782943726	0.02884	T	0.786621	0.42528	T	0.019229846	0.00451	0.024372628	0.00455	0.019229846	0.00450	0.024372628	0.00455	-4.582	0.31945	T	.	.	0.059	0.00820	B	.	.	-0.266909	0.02765	0.373	0.99116876020758871	0.52880	0.01422	0.04795	N	AEFDI	0.048787	0.08362	N	-1.24092553260516	0.04420	0.1994664	-1.24744181819114	0.05169	0.2456511	9.61795107067607E-5	0.04910	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.44	-0.484	0.11469	-0.616000	0.05686	-4.574000	0.02088	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.358:0.2574:0.3846	5.085	0.14010	749	0.51929	.	.	.	.	.	.	Uncertain significance	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	1203.98	86	chr6	24454130	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.820e-01;DP=851;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=1.42;SOR=0.562	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1218,0,794	20	0	1	0
chr6	24697933	24697935	AGA	-	exonic	ACOT13	.	nonframeshift deletion	ACOT13:NM_018473:exon2:c.132_134del:p.E47del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0007	0	0.0006	0.0012	0	1.5e-05	0	0.0037	0.0001921	5	26028	rs572706204	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0034	0.0033	2.99e-05	0.0005	0	0.0004	0	0.0003	9.895e-06	0.0003	0.0037	0.0001	0.0001	1.285e-05	0.0002	0.0033	8.165e-05	6.722e-05	0.0021	0.0017	4.813e-05	0	6.54e-05	0	0	0	0	0	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2139.94	110	chr6	24697932	.	TAGA	T	2139.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=817;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.685;SOR=0.782	GT:AD:DP:GQ:PL	0/1:54,56:110:99:2154,0,2095	20	0	1	0
chr6	24842932	24842932	G	A	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_001286445:exon13:c.C1787T:p.P596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.976	D	0.000	D	1.000	D	1.59	L	1.25	T	-0.911	T	0.157	T	0.555	4.308	22.6	5.65	2.660	5.812	19.713	0.263	0.0188296057029	.	.	9.092e-06	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs751801742	1.102e-05	1.3e-05	4.314e-06	1.802e-05	0.0002	6.62e-06	5.25e-06	0.0001	9.747e-05	0	0	0	0	0	0	0	1.788e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.78490	D	0.035	0.60337	D	0.997	0.77913	D	0.904	0.66815	P	0.000020	0.62929	D	0.158717	0.999998	0.58761	D	.	.	.	1.25	0.36512	T	-4.24	0.76015	D	0.407	0.45237	-0.9113	0.46694	T	0.157	0.48891	T	10	0.33134818	0.50358	T	0.01883	0.41019	T	0.263	0.57612	0.284	0.24121	0.305926609036	0.30200	0.20635524702440308	0.20552	0.940815711379	0.72194	0.451606929302	0.32163	T	0.025883	0.43670	T	-0.166108	0.25826	T	-0.22807	0.51959	T	0.764551043510437	0.44116	D	0.975102	0.91883	D	0.24496755	0.47451	0.22971335	0.48052	0.24496755	0.47451	0.22971335	0.48051	-0.938	0.14259	T	.	.	0.194	0.56383	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.685393	0.75020	26.3	0.99877707064922838	0.95410	0.97932	0.78226	D	AEFBI	0.764629	0.70136	D	0.661456899876703	0.77111	6.61242	0.658592852581074	0.79254	7.043319	0.999994786061584	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	5.923000	0.69769	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.713	0.96100	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	1	0	0	0	0	0	0	0.02381	1673.98	122	chr6	24842932	.	G	A	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=833;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-6.100e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1688,0,1606	20	0	1	0
chr6	26463492	26463492	G	T	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon3:c.G496T:p.G166C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.94	D	0.621	N	1.000	N	3.11	M	-1.05	T	-0.223	T	0.488	T	0.179	0.459	6.491	-3.71	-1.121	-0.539	10.713	0.292	0.0630511781921	.	.	9.067e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs770952034	3.626e-05	3.625e-05	1.77e-05	5.501e-05	0.0006	2.828e-05	2.565e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0006	6.576e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.91255	D	0.012	0.63918	D	0.991	0.64070	D	0.94	0.67560	D	0.620609	0.10781	N	0.826824	1	0.08975	N	3.495	0.92709	M	-1.05	0.76690	T	-4.64	0.89272	D	0.293	0.33140	-0.2230	0.77072	T	0.488	0.80530	T	10	0.14044169	0.26695	T	0.063051	0.68847	D	0.292	0.61157	0.546	0.66015	0.696218657014	0.69360	0.15642516669768364	0.15563	0.383681325765	0.39687	0.259269922972	0.04805	T	0.112464	0.42875	T	-0.315387	0.07282	T	-0.319723	0.42604	T	0.551931977272034	0.34550	D	0.912709	0.68911	D	0.50108856	0.67158	0.28402686	0.54398	0.50108856	0.67159	0.28402686	0.54397	-10.76	0.86393	D	.	.	0.212	0.51279	B	.;.;.;.	.;.;.;.	1.527650	0.19602	14.35	0.97377884999167341	0.33656	0.04449	0.10052	N	AEFBI	0.086332	0.17504	N	-0.683060771830915	0.16504	0.841482	-1.04752259629952	0.08758	0.4322087	0.999942165231177	0.47345	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.88	-3.71	0.04137	-0.951000	0.03995	-1.069000	0.06426	-0.806000	0.03109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.7175:0.0:0.2825:0.0	10.713	0.45194	649	0.63102	.;.;.;.	.	.	.	.	.	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	2265.98	189	chr6	26463492	.	G	T	2265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=919;ExcessHet=0.0000;FS=0.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-8.140e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:97,92:189:99:2280,0,2277	20	0	1	0
chr6	27867079	27867079	C	A	exonic	H1-5	.	nonsynonymous SNV	H1-5:NM_005322:exon1:c.G451T:p.A151S,	.	.	424	1061	36	0	1	37	0.0166821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.005	N	1.000	N	0	N	2.42	T	-0.931	T	0.005	T	0.138	1.309	10.29	0.004	0.130	0.191	3.023	0.045	.	0.0013	0.00678914	0.0063	0.0004	0.0013	0.0007	0.0002	0.0011	0.0110	0.0391	0.0054204	838	154602	rs145278803	0.0029	0.0029	0.0018	0.0041	0.0377	0.0029	0.0028	0.0366	0.0362	2.993e-05	0.0005	0.0062	0.0013	7.49e-05	0.0071	0.0005	0.0036	0.0377	0.0019	0.0019	0.0013	0.0024	0.0350	0.0017	0.0016	0.0307	0.0290	0.0003	0	0.0005	0.0052	0.0021	0.0002	0.0068	0.0008	0.0038	0.0350	0.459	0.08762	T	0.461	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.004793	0.33389	N	0.239133	0.999983	0.18198	N	-0.08	0.04796	N	2.42	0.15376	T	0.27	0.04306	N	0.174	0.18649	-0.9314	0.43933	T	0.005	0.01578	T	10	0.0012731254	0.00014	T	.	.	.	0.045	0.12272	.	.	0.158540857583	0.15491	0.0680979719865761	0.06747	0.00356511220385	0.00305	0.347121953964	0.17497	T	0.026524	0.19611	T	-0.588763	0.00171	T	-0.589925	0.13672	T	0.00960118568006993	0.00125	T	0.191481	0.02052	T	0.054947678	0.10612	0.051040016	0.08132	0.054947678	0.10611	0.051040016	0.08132	-6.708	0.51870	T	.	.	0.079	0.07507	B	.	.	1.074452	0.14567	11.13	0.90195530381334532	0.19470	0.00198	0.01140	N	AEFDBHCIJ	0.147822	0.27158	N	-0.932036297178994	0.10099	0.4810131	-0.848803464731251	0.13317	0.6901348	0.999999950206103	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.19	0.00442	0.13380	-0.182000	0.09720	-10.258000	0.00721	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.1976:0.3537:0.0:0.4487	3.023	0.05713	477	0.77662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1085.98	114	chr6	27867079	.	C	A	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=878;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-4.390e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1100,0,1645	20	0	1	0
chr6	28391325	28391325	A	-	exonic	ZSCAN12	.	frameshift deletion	ZSCAN12:NM_001163391:exon4:c.965delT:p.I322Kfs*304	.	.	424	1068	30	0	0	30	0.0138504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00678914	0.0125	0.0007	0.0093	0.0030	0	0.0021	0.0155	0.0332	0.0005763	15	26028	rs371660996	0.0027	0.0026	0.0017	0.0038	0.0360	0.0026	0.0026	0.0349	0.0345	0	0.0004	0.0064	0.0016	0	0.0044	0.0005	0.0034	0.0360	0.0018	0.0018	0.0013	0.0023	0.0344	0.0016	0.0015	0.0301	0.0285	0.0003	0	0.0005	0.0052	0.0025	0.0002	0.0068	0.0007	0.0033	0.0344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.94	112	chr6	28391324	.	TA	T	1615.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.803;DP=1367;ExcessHet=0.0000;FS=4.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=0.784;SOR=0.676	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1630,0,2081	20	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:417,353,0:770:99:0|1:31028713_C_T:13047,0,15771,14309,16834,31142:31028713	9	2	8	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	1/1:0,114,0:114:99:.:.:3116,340,0,3116,340,3116	0	13	5	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.13	B	0.172	B	0.034	N	1.000	N	1.92	M	9.23	T	-1.055	T	0.000	T	0.632	-0.747	0.827	-5.41	-1.558	-0.230	10.604	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2562.44	178	chr6	31271120	.	C	G	2562.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.483e+00;DP=3459;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=54.11;MQRankSum=-2.934e+00;QD=3.07;ReadPosRankSum=2.86;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,29:178:99:.:.:196,0,5517	16	0	5	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,47,0,28:180:99:.:.:1647,0,4274,1967,4409,6380,789,3223,5200,5119	0	0	16	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32	.	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	824.94	110	chr6	31271334	.	G	GCC	824.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=1903;ExcessHet=0.0000;FS=6.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.35;MQRankSum=0.171;QD=7.50;ReadPosRankSum=-4.600e-02;SOR=1.426	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,26:110:99:0|1:31271334_G_GCC:839,0,3424:31271334	20	0	1	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19	.	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	827.94	109	chr6	31271336	.	AGG	A	827.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.900;DP=1901;ExcessHet=0.0000;FS=6.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.45;MQRankSum=0.190;QD=7.60;ReadPosRankSum=-4.170e-01;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,26:109:99:0|1:31271334_G_GCC:842,0,3403:31271334	20	0	1	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:57,25,26:108:42:0|1:31271337_G_*:920,42,2340,0,1326,2315:31271337	9	2	9	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E,	.	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.002	B	0.027	N	1.000	N	-1.24	N	2.69	T	-0.949	T	0.003	T	0.362	-0.629	1.213	-1.11	-0.413	-2.426	4.780	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1204.88	149	chr6	31355338	.	T	C	1204.88	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.984e+00;DP=2987;ExcessHet=1.7912;FS=11.295;InbreedingCoeff=-0.1703;MLEAC=5;MLEAF=0.125;MQ=58.62;MQRankSum=-9.798e+00;QD=1.30;ReadPosRankSum=1.79;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,17:149:99:.:.:161,0,4329	14	0	6	1
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G,	.	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.017	N	0.986	N	-3.21	N	4.34	T	-1.015	T	0.000	T	0.312	0.549	6.971	1.33	0.182	0.951	7.857	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.2381	3496.72	194	chr6	31355425	.	T	C	3496.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.611;DP=3822;ExcessHet=6.1002;FS=21.379;InbreedingCoeff=-0.3069;MLEAC=10;MLEAF=0.238;MQ=58.03;MQRankSum=-1.346e+01;QD=1.73;ReadPosRankSum=-2.710e-01;SOR=1.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,28:194:99:0|1:31355425_T_C:578,0,6716:31355425	11	0	10	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50,0:50:99:1|1:31356168_A_C:2238,151,0,2238,151,2238:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:22,28,26:76:99:.:.:1102,165,1004,109,0,1135	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41,2:43:39:1|1:31356431_G_T:1838,123,0,1756,39,1755:31356431	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,32,0:83:99:0|1:31356711_C_CGG:1190,0,2045,1344,2141,3485:31356711	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|2:51,0,32:83:99:0|1:31356711_C_CGG:1190,1344,3485,0,2141,2045:31356711	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|1:51,35,0:86:99:0|1:31356711_C_CGG:1316,0,2036,1470,2141,3611:31356711	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|1:0,101,0:101:99:1|1:31356739_C_A:4525,304,0,4525,304,4525:31356739	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,115,0:115:99:1|1:31356809_C_T:5171,346,0,5171,346,5171:31356809	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	0/1:28,30,0,0:58:99:.:.:1127,0,1055,1212,1145,2356,1212,1145,2356,2356	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|1:84,32:116:99:0|1:31625601_T_C:665,0,2914:31625601	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|1:84,32,0:116:99:0|1:31625601_T_C:665,0,2914,917,3010,3926:31625601	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|1:84,32,0:116:99:0|1:31625601_T_C:665,0,2914,917,3010,3926:31625601	0	0	18	2
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S	.	.	411	1024	80	7	0	94	0.0438842	.	.	3221664	PRRC2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.99	D	0.676	P	0.038	N	0.994	D	0.55	N	4.59	T	-0.646	T	0.006	T	0.53	1.570	11.20	5.63	2.271	2.456	13.654	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	Uncertain significance	0	0	0	0	0	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	2478.11	128	chr6	31637239	.	T	C	2478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.900e-02;DP=1376;ExcessHet=0.1072;FS=0.512;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-1.980e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1621,0,1722	19	0	2	0
chr6	31710176	31710176	G	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon4:c.G797A:p.G266D	.	.	423	1017	75	7	0	89	0.0419218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.941	N	1.000	N	-0.55	N	2.52	T	-0.911	T	0.005	T	0.078	0.891	8.620	-0.08	-0.177	0.191	5.858	0.024	.	0.0060	0.00838658	0.0106	0.0071	0.0094	0.0014	0.0014	0.0098	0.0139	0.0253	0.0101422	1568	154602	rs61740977	0.0100	0.0100	0.0094	0.0106	0.0983	0.0099	0.0098	0.0916	0.0889	0.0066	0.0103	0.0241	0.0009	0.0009	0.0983	0.0087	0.0136	0.0245	0.0086	0.0086	0.0085	0.0087	0.0176	0.0082	0.0080	0.0146	0.0135	0.0066	0	0.0119	0.0236	0.0023	0.0007	0.0748	0.0088	0.0213	0.0176	0.792	0.18061	T	0.67	0.06305	T	0.0	0.02946	B	0.001	0.04355	B	0.940953	0.08354	N	0.971401	1	0.08975	N	1.385	0.34509	L	2.36	0.16089	T	-0.77	0.26200	N	0.134	0.13055	-0.9108	0.46756	T	0.005	0.01725	T	10	0.0036507547	0.00067	T	.	.	.	0.024	0.04979	.	.	.	.	0.17638048354673985	0.17557	0.0973658497453	0.21457	0.23227712512	0.02141	T	0.002959	0.02360	T	-0.691932	0.00041	T	-0.747765	0.03574	T	0.00386979524127015	0.00041	T	0.379462	0.09138	T	0.04546819	0.07448	0.08063304	0.18256	0.04546819	0.07448	0.08063304	0.18256	-4.892	0.35645	T	.	.	0.107	0.19958	B	.;.	.;.	0.522969	0.08917	5.698	0.70296732587708188	0.09250	0.01871	0.05765	N	AEFGBI	0.059164	0.11153	N	-1.55622397157654	0.01499	0.06542969	-1.50119969325627	0.02335	0.1072508	0.999911762167869	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-0.08	0.13042	0.206000	0.17174	.	.	-0.179000	0.10443	0.009000	0.18154	0.010000	0.20010	0.146000	0.20164	0.353:0.0:0.5128:0.1342	5.858	0.17980	889	0.27310	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs116179487	Likely benign	0	0	0	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	1911.11	72	chr6	31710176	.	G	A	1911.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.21;DP=818;ExcessHet=0.1072;FS=3.286;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-1.580e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1111,0,943	19	0	2	0
chr6	32042010	32042010	A	G	splicing	TNXB	NM_001365276:exon42:c.12469+2T>C;NM_019105:exon42:c.12463+2T>C;NM_032470:exon11:c.1756+2T>C	.	.	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	649	852	18	3	0	24	0.0138889	0.9639	0.64	443945	not_provided|TNXB-related_disorder|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:C3661900|.|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.431	14.09	4.66	1.982	6.977	13.272	.	.	.	.	0.1082	0	0.5	0	.	0.0645	.	0.1404	0.0011142	29	26028	rs545719209	0.0111	0.0085	0.0100	0.0121	0.0515	0.0108	0.0107	0.0437	0.0407	0.0055	0.0098	0.0238	0.0005	0.0011	0.0515	0.0102	0.0132	0.0240	0.0106	0.0069	0.0103	0.0111	0.0192	0.0100	0.0097	0.0143	0.0126	0.0048	0	0.0147	0.0314	0.0027	0.0012	0.0802	0.0123	0.0272	0.0192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.111952	0.34447	T	0.085336	0.75934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.922929	0.57282	23.8	0.99383401819633854	0.61979	0.98625	0.84843	D	AEFGI	.	.	.	0.968673653607969	0.94697	12.96467	0.764717257158417	0.87252	9.158453	0.999974908037553	0.50053	0.164513	0.03853	0	0.195528	0.04277	0	0.083675	0.02720	0	0.062806	0.01542	0	0.857618	0.52466	4.66	4.66	0.57857	4.342000	0.59122	.	.	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	1.0:0.0:0.0:0.0	13.272	0.59600	923	0.18507	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	80.31	14	chr6	32042010	.	A	G	80.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.440e-01;DP=140;ExcessHet=0.0000;FS=7.549;InbreedingCoeff=-0.0583;MLEAC=1;MLEAF=0.026;MQ=31.27;MQRankSum=1.17;QD=5.74;ReadPosRankSum=-7.080e-01;SOR=0.039	GT:AD:DP:GQ:PL	0/1:10,4:14:93:93,0,290	18	0	1	2
chr6	32048435	32048435	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon29:c.A9973G:p.K3325E	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.999	D	0.989	D	0.000	D	1.000	N	2.02	M	0.48	T	-0.902	T	0.146	T	0.449	3.580	18.24	4.2	1.745	1.724	12.370	0.242	0.0159019866051	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281137637	7.037e-07	2.736e-06	0	1.423e-06	2.561e-05	0	0	.	.	0	0	0	2.561e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.13003	T	0.027	0.55341	D	.	.	.	.	.	.	0.000088	0.51296	D	0.000000	0.991934	0.23960	N	.	.	.	0.48	0.55945	T	-2.51	0.54546	D	0.48	0.51494	-0.9022	0.47760	T	0.146	0.47111	T	10	0.33743906	0.50866	T	0.015902	0.36884	T	0.242	0.54781	.	.	0.281547015583	0.27767	.	.	.	.	0.564045608044	0.47838	T	0.120114	0.44213	T	-0.183518	0.23215	T	-0.322315	0.42320	T	0.716231465339661	0.41509	D	0.918108	0.72135	D	0.34806427	0.56916	0.26665413	0.52513	0.34806427	0.56916	0.26665413	0.52512	-8.756	0.66112	D	0.12779633786796385	0.13144	0.487	0.64862	A	.;.;.;.	.;.;.;.	4.144073	0.62115	24.4	0.99810868263523334	0.89442	0.74654	0.36525	D	ALL	0.321420	0.42423	N	0.255868686442951	0.53930	3.55996	0.22386276065754	0.51176	3.30231	1.0	0.98316	0.696267	0.57585	0	0.596394	0.48810	0	0.691665	0.62940	0	0.691587	0.68394	0	.	.	4.2	4.2	0.48814	1.643000	0.36833	.	.	0.605000	0.46263	0.945000	0.32849	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.370	0.54581	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1686.98	150	chr6	32048435	.	T	C	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.441e+00;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.833;SOR=0.693	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1701,0,1969	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	2/2:0,0,25,0,0:25:76:1106,1106,1106,76,76,0,1106,1106,76,1106,1106,1106,76,1106,1106	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/2:0,0,25,0,0:25:76:1106,1106,1106,76,76,0,1106,1106,76,1106,1106,1106,76,1106,1106	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/2:0,0,25,0,0:25:76:1106,1106,1106,76,76,0,1106,1106,76,1106,1106,1106,76,1106,1106	0	1	4	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N,	.	.	421	1020	78	3	0	84	0.039548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.17	B	0.058	B	0.000	D	1.000	N	3.315	M	-2.3	D	-0.091	T	0.592	D	0.36	2.009	12.67	4.91	2.755	4.749	16.143	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	16283.53	159	chr6	32405014	.	C	T	16283.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.568;DP=1620;ExcessHet=0.2785;FS=2.492;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.822;SOR=0.539	GT:AD:DP:GQ:PL	0/1:69,90:159:99:2369,0,1608	15	1	5	0
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9579.39	39	chr6	32519649	.	C	A,*	9579.39	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=4.43;DP=516;ExcessHet=0.0001;FS=2.640;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.21;MQRankSum=4.41;QD=30.44;ReadPosRankSum=-1.495e+00;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,27,0:39:99:0|1:32519643_T_C:1098,0,423,1134,504,1638:32519643	8	5	2	5
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9378.63	38	chr6	32519650	.	A	G,*	9378.63	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=3.57;DP=510;ExcessHet=0.0001;FS=2.644;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.16;MQRankSum=4.36;QD=31.47;ReadPosRankSum=-1.495e+00;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,26,0:38:99:0|1:32519643_T_C:1056,0,426,1092,504,1596:32519643	8	5	2	5
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	3|3:0,0,0,20,0:20:60:1|1:32521972_G_C:900,900,900,900,900,900,60,60,60,0,900,900,900,60,900:32521972	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,20:20:60:1|1:32521972_G_C:900,900,900,60,60,0:32521972	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,20,0,0:20:60:1|1:32521972_G_C:900,60,0,900,60,900,900,60,900,900:32521972	4	5	4	1
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	0/1:61,50,4:115:99:.:.:1246,0,1382,1414,1552,4851	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	1/2:4,57,54,0:115:99:.:.:4834,1673,1442,1556,0,1288,4791,1747,1624,4861	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	1/3:1,50,4,57:112:99:.:.:4730,1614,1303,4522,1446,4506,1560,0,1393,1264	0	1	0	0
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	YES	45	1469	6	2	0	10	0.00339213	0.9999	0.734	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.307	5.666	2.93	0.567	2.966	6.479	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1473.8	112	chr6	32580272	.	T	C	1473.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.295;DP=2507;ExcessHet=0.1072;FS=8.712;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=52.44;MQRankSum=0.203;QD=9.21;ReadPosRankSum=2.01;SOR=1.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,11:112:99:0|1:32580272_T_C:159,0,4207:32580272	18	0	2	1
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X,	.	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.838	N	1.000	A	.	.	.	.	.	.	.	.	.	2.918	15.72	0.396	0.242	-1.613	7.656	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	29644.93	509	chr6	32581836	.	G	C,A	29644.93	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-1.041e+00;DP=8578;ExcessHet=0.5418;FS=1.262;InbreedingCoeff=0.0735;MLEAC=5,3;MLEAF=0.119,0.071;MQ=56.50;MQRankSum=-8.926e+00;QD=8.65;ReadPosRankSum=3.57;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:333,112,64:509:99:.:.:3672,0,13618,1992,11273,15806	14	1	3	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:155,0,42,0:197:99:.:.:1297,1764,8228,0,6464,6338,1764,8228,6464,8228	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:178,0,44:222:99:.:.:1312,1848,9125,0,7278,7145	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	0/1:78,97,44:219:99:.:.:3838,0,2963,2234,1258,5307	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,0,102,0:227:99:.:.:3977,4235,7614,0,3412,3202,4235,7614,3412,7614	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,0,102,0:227:99:.:.:3977,4235,7614,0,3412,3202,4235,7614,3412,7614	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,0,102:227:99:.:.:3977,4235,7614,0,3412,3202	10	0	5	1
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3600.15	264	chr6	32584318	.	C	*,T	3600.15	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=-8.230e-01;DP=7428;ExcessHet=4.7172;FS=0.567;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.167,0.048;MQ=53.39;MQRankSum=-4.724e+00;QD=1.58;ReadPosRankSum=1.92;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:206,41,0:264:99:.:.:1102,0,8526,1734,8662,10461	12	0	7	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,194,0:194:99:.:.:8730,584,0,8730,584,8730	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	1/2:9,41,145,0:195:99:.:.:7405,5707,5959,1132,0,1031,7339,6084,1503,7680	2	4	8	2
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,157:157:99:.:.:7065,7065,7065,473,473,0	2	0	3	2
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T,	.	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.049	B	0.034	B	0.131	N	1.000	N	1.61	L	8.43	T	-0.941	T	0.000	T	0.415	0.078	4.424	2.05	0.270	1.241	5.311	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	10724.01	323	chr6	32589684	.	A	G	10724.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.231e+00;DP=4752;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=49.04;MQRankSum=-7.090e-01;QD=4.29;ReadPosRankSum=0.302;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,40:323:99:0|1:32589684_A_G:828,0,11642:32589684	12	0	9	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,36,0:213:99:0|1:32641430_C_T:979,0,7324,1512,7432,8944:32641430	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	0|2:179,0,36:215:99:0|1:32641430_C_T:973,1512,9028,0,7516,7408:32641430	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	0|1:189,47,0:236:99:0|1:32641430_C_T:1405,0,7795,1974,7936,9910:32641430	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	0|1:191,46,0:237:99:0|1:32641430_C_T:1357,0,7882,1932,8020,9952:32641430	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	0|1:218,79,0,0:297:99:0|1:32641430_C_T:2661,0,8916,3317,9154,12471,3317,9154,12471,12471:32641430	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	0|2:225,0,99,0:324:99:0|1:32641430_C_T:3480,4157,13564,0,9407,9109,4157,13564,9407,13564:32641430	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	0|2:225,0,99,0:324:99:0|1:32641430_C_T:3480,4157,13564,0,9407,9109,4157,13564,9407,13564:32641430	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,90,0:233:99:0|1:32664910_A_G:3349,0,5734,3779,6005,9784:32664910	5	3	5	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,32,65:97:99:0|1:32666525_A_G:4065,2726,2675,1341,0,1145:32666525	1	1	0	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,17:53:33:.:.:33,0,564	3	0	9	9
chr6	38848746	38848746	G	C	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon36:c.G4493C:p.W1498S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.415	H	-1.02	T	0.852	D	0.788	D	0.967	4.798	27.1	5.78	2.749	9.637	20.012	0.815	0.333449780285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000015	0.62929	D	0.123853	1	0.81001	D	4.62	0.99303	H	-1.02	0.76300	T	-13.15	0.99901	D	0.967	0.98657	0.852	0.95053	D	0.788	0.92818	D	10	0.97668016	0.97467	D	0.33345	0.91816	D	0.815	0.94046	0.82	0.93328	0.912223512337	0.91134	0.8876026207159929	0.88729	0.739716431452	0.63183	0.816607475281	0.84507	D	0.502176	0.93204	D	0.418332	0.90933	D	0.363129	0.90820	D	0.999963045120239	0.99918	D	0.995811	0.98540	D	0.93692416	0.94935	0.94260186	0.97937	0.93692416	0.94935	0.94260186	0.97938	-12.275	0.86164	D	.	.	0.994	0.97573	P	.;.;.	.;.;.	4.668084	0.74577	26.2	0.99078106248586062	0.51906	0.99146	0.91905	D	AEFBI	0.925581	0.90536	D	1.17734840386891	0.99315	21.86225	1.0830071607203	0.99686	25.24724	0.999999998764284	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.78	5.78	0.91418	9.769000	0.98151	11.626000	0.93661	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.012	0.97463	455	0.79073	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	2217.08	80	chr6	38848746	.	G	C	2217.08	.	AC=2;AF=0.048;AN=42;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.71;SOR=1.096	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2245,240,0	20	1	0	0
chr6	41031715	41031715	T	C	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon6:c.A1085G:p.N362S,	.	.	399	1118	5	0	0	5	0.00223115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.001	B	0.003	N	0.559	D	0.695	N	2.54	T	-0.944	T	0.008	T	0.131	0.180	4.971	3.34	0.770	0.406	6.763	0.027	.	0.0015	0.00938498	0.0054	9.61e-05	0.0021	0.0009	0	0.0017	0.0099	0.0302	0.0049417	764	154602	rs145811250	0.0036	0.0036	0.0029	0.0044	0.0296	0.0035	0.0035	0.0286	0.0282	0.0006	0.0032	0.0011	0.0035	0.0002	0.0033	0.0019	0.0041	0.0296	0.0029	0.0029	0.0022	0.0037	0.0301	0.0027	0.0026	0.0261	0.0246	0.0006	0	0.0075	0.0014	0.0017	9.43e-05	0.0102	0.0019	0.0043	0.0301	0.629	0.05167	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.002565	0.36316	N	0.124350	0.558932	0.32196	D	1.95	0.52479	M	2.54	0.13916	T	-0.27	0.11366	N	0.364	0.40565	-0.9438	0.42009	T	0.008	0.02679	T	10	0.0041496456	0.00082	T	.	.	.	0.027	0.05988	.	.	0.263140351381	0.25927	0.3104686467559726	0.30959	0.0967241480194	0.10917	0.434845983982	0.29872	T	0.004928	0.04354	T	-0.658277	0.00064	T	-0.696033	0.06045	T	0.00391192859409354	0.00041	T	0.723028	0.33655	T	0.036393862	0.04468	0.040935535	0.04540	0.036393862	0.04468	0.040935535	0.04539	-2.123	0.03684	T	.	.	0.069	0.03128	B	.;.	.;.	1.951457	0.24787	16.53	0.82207439844384111	0.14073	0.55062	0.29770	D	AEFDBI	0.177899	0.30516	N	-0.46693635199684	0.23169	1.242357	-0.30524120073425	0.27929	1.553338	0.998329372283581	0.36758	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.52	3.34	0.37357	0.400000	0.20657	1.472000	0.26760	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1071:0.0:0.8929	6.763	0.22735	451	0.79296	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3065.66	84	chr6	41031715	.	T	C	3065.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.460e-01;DP=820;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=0.275;SOR=0.586	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2448,251,0	19	1	1	0
chr6	41150262	41150262	A	G	exonic	TREML1	.	nonsynonymous SNV	TREML1:NM_001271808:exon4:c.T287C:p.M96T	.	.	431	1079	12	0	0	12	0.00552995	0.0008	0.104	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.003	B	0.001	B	0.564	N	1.000	N	0.255	N	0.93	T	-1.054	T	0.013	T	0.309	2.496	14.31	-8.03	-1.302	-1.523	4.361	0.052	.	0.0017	0.0167732	0.0102	0.0002	0.0024	0.0015	0	0.0017	0.0113	0.0646	0.0089261	1380	154602	rs35929443	0.0056	0.0056	0.0040	0.0073	0.0623	0.0055	0.0055	0.0609	0.0603	0.0007	0.0031	0.0011	0.0035	0.0002	0.0036	0.0019	0.0069	0.0623	0.0038	0.0038	0.0026	0.0051	0.0597	0.0036	0.0035	0.0540	0.0518	0.0007	0	0.0073	0.0014	0.0027	9.432e-05	0.0102	0.0019	0.0033	0.0597	0.296	0.14694	T	0.257	0.23433	T	0.002	0.11197	B	0.001	0.04355	B	0.563607	0.05438	N	1.213370	0.99974	0.48716	D	0.755	0.19153	N	1.83	0.44065	T	-2.63	0.56466	D	0.028	0.04790	-1.0540	0.13305	T	0.013	0.04938	T	10	0.0016866624	0.00021	T	.	.	.	0.052	0.14661	.	.	0.199424873507	0.19547	0.1706216434997013	0.16982	0.0668708633351	0.07459	0.316066741943	0.12826	T	0.046399	0.27413	T	-0.614411	0.00119	T	-0.608221	0.12129	T	0.0103992810647978	0.00143	T	0.50065	0.15660	T	0.060711063	0.12491	0.09030898	0.21169	0.060711063	0.12490	0.09030898	0.21168	-1.586	0.01949	T	.	.	0.1	0.33527	B	.;.	.;.	-0.522980	0.01794	0.139	0.71087936438850141	0.09511	0.00732	0.03068	N	AEFBI	0.058129	0.10882	N	-1.35796003634285	0.03043	0.1353332	-1.38206261642845	0.03443	0.1606118	0.99568561193967	0.34265	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	-8.03	0.00984	-1.517000	0.02351	-5.389000	0.01737	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2942:0.1241:0.4608:0.121	4.361	0.10638	638	0.64280	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4637.66	105	chr6	41150262	.	A	G	4637.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.630e-01;DP=895;ExcessHet=0.0000;FS=9.537;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.98;ReadPosRankSum=-7.500e-02;SOR=0.704	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3025,315,0	19	1	1	0
chr6	41151372	41151374	TCT	-	exonic	TREML1	.	nonframeshift deletion	TREML1:NM_001271808:exon2:c.54_56del:p.E19del	.	.	417	1093	12	0	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0169728	0.0099	0.0002	0.0023	0.0014	0	0.0018	0.0110	0.0622	0.0009221	24	26028	rs139027309	0.0056	0.0056	0.0040	0.0072	0.0609	0.0055	0.0054	0.0596	0.0590	0.0007	0.0031	0.0011	0.0035	0.0002	0.0036	0.0019	0.0069	0.0609	0.0038	0.0038	0.0026	0.0052	0.0596	0.0036	0.0035	0.0540	0.0518	0.0007	0	0.0073	0.0014	0.0029	9.422e-05	0.0102	0.0018	0.0033	0.0596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4625.62	67	chr6	41151371	.	CTCT	C	4625.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.605;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=31.25;ReadPosRankSum=-6.530e-01;SOR=0.737	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2977,202,0	19	1	1	0
chr6	41930239	41930239	G	A	exonic	BYSL	.	nonsynonymous SNV	BYSL:NM_004053:exon3:c.G539A:p.R180Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.977	D	0.701	P	0.000	D	1.000	D	2.585	M	0.92	T	-0.720	T	0.157	T	0.402	5.610	36	5.2	1.574	9.757	15.226	0.249	0.0374483503946	0.0009	0.00119808	0.0003	0.0030	0.0002	0	0	0	0.0011	0	0.0002781	43	154602	rs146819393	9.44e-05	9.44e-05	0.0001	7.7e-05	0.0027	8.134e-05	7.65e-05	0.0023	0.0021	0.0027	8.945e-05	0	2.519e-05	0	0	2.968e-05	0.0001	0	0.0009	0.0009	0.0008	0.0010	0.0031	0.0007	0.0007	0.0026	0.0025	0.0031	0	6.537e-05	0	0	0	0	1.47e-05	0.0009	0	0.015	0.52492	D	0.032	0.53426	D	0.977	0.58535	D	0.701	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.92	0.44461	T	-2.88	0.60507	D	0.817	0.81261	-0.7198	0.59473	T	0.157	0.49010	T	10	0.046075076	0.03754	T	0.037448	0.57621	D	0.249	0.55752	.	.	0.636745445039	0.63376	0.55677566155843	0.55604	1.19922512241	0.80482	0.667373895645	0.62463	T	0.392717	0.75231	T	-0.370132	0.03587	T	-0.306867	0.43995	T	0.135168353943736	0.15852	T	0.973103	0.90315	D	0.72428465	0.79401	0.5390931	0.73363	0.72428465	0.79403	0.5390931	0.73364	-5.825	0.44791	T	.	.	0.369	0.57750	A	.	.	5.936820	0.94117	33	0.99949698044269542	0.99938	0.99286	0.93967	D	AEFBCI	0.911547	0.87098	D	0.778357124032391	0.84735	8.371396	0.771179365113644	0.87729	9.323663	0.999999990218596	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.06	5.2	0.71720	9.882000	0.98512	11.849000	0.98023	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0681:0.0:0.9319:0.0	15.226	0.73043	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4030.08	124	chr6	41930239	.	G	A	4030.08	.	AC=2;AF=0.048;AN=42;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.50;SOR=1.445	GT:AD:DP:GQ:PL	1/1:0,124:124:99:4058,372,0	20	1	0	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	0/1:58,24:82:43:43,0,980	4	0	14	3
chr6	53654942	53654942	C	T	exonic	KLHL31	.	nonsynonymous SNV	KLHL31:NM_001003760:exon2:c.G331A:p.V111M,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.934	P	0.787	P	0.000	D	1.000	D	2.475	M	-0.45	T	-0.173	T	0.426	T	0.678	3.872	19.68	6.03	2.868	4.761	20.560	0.436	0.0762419857206	0.0010	0.000599042	0.0020	0.0002	0.0016	0	0.0006	0.0030	0.0022	0.0013	0.0019146	296	154602	rs141075656	0.0019	0.0019	0.0019	0.0020	0.0303	0.0019	0.0019	0.0267	0.0253	0.0013	0.0023	0.0136	0	0.0002	0.0303	0.0016	0.0034	0.0015	0.0016	0.0016	0.0015	0.0017	0.0019	0.0015	0.0014	0.0017	0.0016	0.0005	0	0.0019	0.0110	0	0.0002	0.0374	0.0019	0.0057	0.0004	0.004	0.65419	D	0.059	0.45961	T	0.934	0.52202	P	0.787	0.57594	P	0.000000	0.84330	D	0.051118	0.99966	0.48141	D	2.78	0.81115	M	-0.45	0.69896	T	-1.83	0.42957	N	0.561	0.58543	-0.1729	0.78357	T	0.426	0.76923	T	10	0.010575861	0.00235	T	0.076242	0.72484	D	0.436	0.74093	.	.	0.842970669175	0.84147	0.6383465388832181	0.63768	0.388253492128	0.40090	0.5328155756	0.43432	T	0.393654	0.75300	T	-0.19485	0.21550	T	-0.0585228	0.66436	T	0.0326545975782044	0.02414	T	0.918208	0.70605	D	0.4781343	0.65787	0.44531605	0.67684	0.4781343	0.65788	0.44531605	0.67684	-5.746	0.44101	T	.	.	0.227	0.45859	B	.;.	.;.	4.096891	0.61058	24.3	0.99837510008053665	0.91800	0.91540	0.53744	D	AEFDBIJ	0.680883	0.64442	D	0.749329093085302	0.82862	7.868594	0.757920617003437	0.86746	8.989521	0.999999989921157	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	6.03	6.03	0.97798	4.796000	0.62190	4.920000	0.46033	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.560	0.99327	779	0.47767	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	1690.98	134	chr6	53654942	.	C	T	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.65;DP=2774;ExcessHet=0.0000;FS=19.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-7.220e-01;SOR=1.996	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1705,0,1869	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/2:34,6,6:46:4:15,4,778,0,602,761	6	0	12	1
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:36,0,6:42:99:0|1:80007992_G_C:99,207,1439,0,1232,1214:80007992	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:36,0,6:42:99:0|1:80007992_G_C:99,207,1439,0,1232,1214:80007992	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:35,0,0,6:41:99:0|1:80007992_G_C:102,207,1432,207,1432,1432,0,1225,1225,1207:80007992	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:35,0,0,6:41:99:0|1:80007992_G_C:102,207,1432,207,1432,1432,0,1225,1225,1207:80007992	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:35,0,0,6:41:99:0|1:80007992_G_C:102,207,1432,207,1432,1432,0,1225,1225,1207:80007992	1	0	7	8
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Uncertain significance	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	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,33:77:99:.:.:127,0,611	6	0	13	2
chr6	108663973	108663973	-	G	exonic	FOXO3	.	frameshift insertion	FOXO3:NM_001455:exon2:c.1141dupG:p.L382Afs*3	.	.	430	963	128	1	0	130	0.0632296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs34133353	0.0013	0.0068	0.0008	0.0019	0.0014	0.0013	0.0013	0.0014	0.0014	0.0012	0.0010	0.0027	0.0009	0.0009	0.0011	0.0014	0.0012	0.0006	1.319e-05	0.0003	2.581e-05	0	4.865e-05	2.19e-06	8.2e-07	8.06e-06	3.02e-06	4.865e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.94	134	chr6	108663973	.	T	TG	52.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e+00;DP=844;ExcessHet=0.0000;FS=2.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.88;MQRankSum=-1.058e+01;QD=0.40;ReadPosRankSum=3.98;SOR=0.372	GT:AD:DP:GQ:PL	0/1:120,14:134:67:67,0,3750	20	0	1	0
chr6	109619190	109619190	C	T	exonic	AK9	.	nonsynonymous SNV	AK9:NM_001145128:exon13:c.G1301A:p.R434H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.71	P	0.037	N	0.994	D	1.04	L	1.59	T	-0.964	T	0.134	T	0.143	2.489	14.28	1.43	0.570	0.268	5.928	0.099	0.0271463335275	0.0002	.	0.0001	0.0014	0	0	0	0	0	0	2.59e-05	4	154602	rs375046428	3.076e-05	3.215e-05	2.964e-05	3.191e-05	0.0004	2.318e-05	2.06e-05	0.0002	0.0002	0.0002	2.819e-05	0	0.0004	0	0	1.762e-05	1.726e-05	2.533e-05	9.198e-05	9.188e-05	6.428e-05	0.0001	0.0006	5.527e-05	4.364e-05	0.0002	0.0001	0.0003	0	0	0	0.0006	0	0	0	0	0	0.125	0.34444	T	0.101	0.38596	T	0.998	0.73220	D	0.71	0.54502	P	0.036799	0.24479	N	0.406487	0.994072	0.42152	D	1.78	0.46185	L	-0.24	0.66834	T	-2.09	0.59873	N	0.092	0.08925	-0.9642	0.38370	T	0.134	0.44681	T	9	0.038520604	0.02277	T	0.027146	0.49992	D	0.099	0.28413	.	.	0.605179040742	0.60201	0.3413851424254091	0.34051	0.434878192095	0.43611	0.259745955467	0.04861	T	0.014502	0.12336	T	-0.442332	0.01253	T	-0.465931	0.25957	T	0.0958295542673925	0.11892	T	0.708829	0.31953	T	0.042636562	0.06503	0.048602544	0.07254	0.042636562	0.06503	0.048602544	0.07254	-7.936	0.60633	D	.	.	0.204	0.43004	B	.;.	.;.	3.596403	0.50772	23.0	0.99861999108808097	0.94002	0.16192	0.19274	N	AEFI	0.056851	0.10542	N	-0.0269926439049944	0.40636	2.416602	-0.0916118956142619	0.35736	2.07103	2.15909091906374E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.93	1.43	0.21585	0.412000	0.20852	3.107000	0.36343	-0.171000	0.11205	0.795000	0.29657	0.999000	0.35428	0.607000	0.31564	0.2977:0.5747:0.0:0.1276	5.928	0.18360	655	0.62421	.;.	.	.	.	.	.	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	564.98	48	chr6	109619190	.	C	T	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=726;ExcessHet=0.0000;FS=2.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-7.200e-02;SOR=0.402	GT:AD:DP:GQ:PL	0/1:23,25:48:99:579,0,478	20	0	1	0
chr6	111344045	111344045	-	A	splicing	REV3L	NM_002912:exon22:c.7420-2->T;NM_001286432:exon23:c.7186-2->T;NM_001286431:exon24:c.7186-2->T;NM_001372078:exon21:c.7420-2->T	.	.	.	.	433	1062	25	2	0	29	0.0134696	.	.	777644	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00559105	0.0073	0.0007	0.0035	0.0030	0.0004	0.0029	0.0066	0.035	0.0008068	21	26028	rs565415842	0.0022	0.0052	0.0016	0.0029	0.0238	0.0021	0.0021	0.0229	0.0225	0.0004	0.0017	0.0039	0.0002	0.0003	0.0080	0.0008	0.0026	0.0238	0.0013	0.0013	0.0009	0.0016	0.0193	0.0011	0.0011	0.0161	0.0149	0.0002	0	0.0017	0.0026	0	0	0.0068	0.0007	0.0014	0.0193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	781.94	66	chr6	111344045	.	T	TA	781.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=841;ExcessHet=0.0000;FS=14.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.938;SOR=2.315	GT:AD:DP:GQ:PL	0/1:31,35:66:99:796,0,691	20	0	1	0
chr6	116003894	116003894	C	T	exonic	FRK	.	nonsynonymous SNV	FRK:NM_002031:exon2:c.G449A:p.G150E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.945	D	0.000	D	1.000	D	4.125	H	-3.41	D	1.076	D	0.939	D	0.709	3.842	19.52	5.97	2.825	4.667	19.993	0.805	0.0273249798612	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464110429	1.369e-05	1.368e-05	1.634e-05	1.1e-05	0.0002	8.94e-06	7.27e-06	1.012e-05	8.35e-06	0	0	0	0	0	0.0002	1.619e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	0.999	0.77913	D	0.945	0.68163	D	0.000008	0.62929	D	0.000000	0.999999	0.58761	D	3.67	0.94359	H	.	.	.	.	.	.	0.605	0.62273	1.076	0.98764	D	0.939	0.97989	D	10	0.9777621	0.97621	D	0.027325	0.50151	D	.	.	0.905	0.97985	0.718249617326	0.71577	0.8036999767517397	0.80323	0.797983733474	0.66116	0.554559588432	0.46500	T	0.794883	0.94709	D	0.188583	0.72833	D	0.0331103	0.72480	D	0.990030407905579	0.80250	D	0.949005	0.80370	D	0.8485021	0.87225	0.85464644	0.91817	0.8485021	0.87227	0.85464644	0.91818	-7.922	0.60537	D	.	.	0.379	0.58381	A	.	.	4.898542	0.80495	27.3	0.99738918572178337	0.83337	0.82248	0.41504	D	ALL	0.535386	0.55403	D	0.965736605927994	0.94589	12.87757	0.875216331651616	0.94398	12.73089	0.999999999998119	0.74766	0.487112	0.14033	0	0.047448	0.00088	3	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	4.402000	0.59482	7.590000	0.61220	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.993	0.97376	806	0.43582	SH2 domain|SH2 domain|SH2 domain|SH2 domain|Tyrosine-protein kinase Frk, SH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	936.98	59	chr6	116003894	.	C	T	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=764;ExcessHet=0.0000;FS=2.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=0.119;SOR=0.982	GT:AD:DP:GQ:PL	0/1:21,38:59:99:951,0,471	20	0	1	0
chr6	116511763	116511763	A	G	exonic	CALHM5	.	nonsynonymous SNV	CALHM5:NM_153711:exon1:c.A67G:p.M23V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.015	B	0.012	B	0.000	D	1.000	D	0.93	L	2.61	T	-0.920	T	0.006	T	0.705	-0.150	3.269	0.183	-0.115	2.722	7.273	0.250	0.0112165894594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.608	0.05501	T	0.485	0.11725	T	0.015	0.17086	B	0.012	0.16012	B	0.000000	0.84330	D	0.035539	1	0.81001	D	.	.	.	2.61	0.13095	T	0.49	0.02993	N	0.415	0.45520	-0.9202	0.45527	T	0.006	0.02093	T	10	0.08935237	0.15470	T	0.011217	0.28621	T	0.250	0.55888	0.529	0.63560	0.0138822411134	0.00435	0.7186016902622785	0.71803	0.111667671248	0.12603	0.55644094944	0.46765	T	0.001991	0.01403	T	-0.00403329	0.51097	T	-0.24357	0.50449	T	0.0747686644360167	0.09305	T	0.746525	0.36724	T	0.18513583	0.39862	0.17609873	0.40121	0.18513583	0.39862	0.17609873	0.40120	-1.747	0.02356	T	.	.	0.144	0.31658	B	.	.	1.342530	0.17492	13.20	0.67452160627616087	0.08359	0.80566	0.40170	D	AEFGBHCI	0.401818	0.47615	N	-0.809336623542945	0.13071	0.6414024	-0.666283661793895	0.17807	0.9484482	0.999999995357962	0.74766	0.393558	0.05922	0	0.491513	0.07743	0	0.687007	0.62461	0	0.56214	0.19341	0	.	.	5.63	0.183	0.14365	2.694000	0.46702	1.634000	0.27755	-0.095000	0.16041	1.000000	0.71638	0.994000	0.32194	0.921000	0.45669	0.5215:0.2446:0.0:0.2339	7.273	0.25443	530	0.73653	.	.	.	.	.	.	Uncertain significance	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	781.98	75	chr6	116511763	.	A	G	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.632e+00;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=1.16;SOR=0.614	GT:AD:DP:GQ:PL	0/1:36,39:75:99:796,0,929	20	0	1	0
chr6	138473353	138473353	G	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_001144060:exon3:c.C292T:p.P98S	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.003	B	0.013	N	0.979	N	0.935	L	1.75	T	-1.007	T	0.016	T	0.148	0.932	8.796	1.12	0.668	0.910	1.042	0.054	0.00383156465049	0.0037	0.00119808	0.0020	0.0009	0	0	0	0.0035	0.0042	0.0013	0.0006921	107	154602	rs201780864	0.0031	0.0030	0.0031	0.0030	0.0093	0.0030	0.0030	0.0073	0.0066	0.0004	0.0025	0.0024	0	0.0007	0.0093	0.0035	0.0041	0.0012	0.0023	0.0023	0.0024	0.0022	0.0034	0.0021	0.0020	0.0030	0.0029	0.0010	0.0099	0.0027	0.0023	0	0.0005	0.0136	0.0034	0.0033	0.0012	0.215	0.21801	T	0.548	0.10785	T	0.001	0.07471	B	0.002	0.08700	B	0.012534	0.29142	N	0.390782	0.979379	0.25186	N	1.4	0.35362	L	1.23	0.36872	T	-2.62	0.63207	D	0.06	0.13055	-1.0072	0.27789	T	0.016	0.06664	T	10	0.0033589303	0.00058	T	0.003832	0.08961	T	0.054	0.15330	.	.	0.0401082797425	0.02173	0.14422849197835866	0.14345	.	.	0.292442917824	0.09278	T	0.011375	0.29960	T	-0.541817	0.00327	T	-0.55411	0.16933	T	0.0191748720763091	0.00624	T	0.662834	0.28519	T	0.028806757	0.02275	0.052949004	0.08825	0.028806757	0.02275	0.052949004	0.08825	-1.247	0.01829	T	.	.	0.072	0.04436	B	.;.;.;.	.;.;.;.	0.726152	0.10952	7.618	0.67345597212008468	0.08327	0.61867	0.31610	D	AEFBI	0.067178	0.13194	N	-0.710262116777375	0.15732	0.7954531	-0.593022865051781	0.19673	1.05663	0.767519204967811	0.23613	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	1.12	0.19700	0.810000	0.26841	1.735000	0.28356	-0.718000	0.03832	1.000000	0.71638	0.983000	0.30585	0.033000	0.13494	0.2696:0.1535:0.4184:0.1585	1.042	0.01463	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	1	0	0	0	0.02381	1683.98	131	chr6	138473353	.	G	A	1683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=845;ExcessHet=0.0000;FS=5.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-1.648e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1698,0,1724	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	0/1:43,64:107:99:1722,0,996	18	0	3	0
chr6	142417306	142417306	C	T	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon20:c.C2888T:p.A963V	Lethal congenital contracture syndrome 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2757599	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.593	P	0.196	B	0.007	N	0.994	D	1.82	L	1.32	T	-1.119	T	0.044	T	0.133	1.879	12.24	3.17	0.404	1.240	10.704	0.052	0.0131963736504	8.4e-05	.	0.0003	0	0	0.0003	0	0.0003	0.0014	0.0008	0.000194	30	154602	rs200450467	0.0001	0.0001	9.464e-05	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	3.004e-05	0	0	2.532e-05	0	0.0007	8.788e-05	0.0002	0.0008	0.0001	0.0001	0.0002	9.42e-05	0.0006	9.16e-05	7.714e-05	0.0002	9.036e-05	2.413e-05	0	6.554e-05	0	0.0002	0	0.0068	0.0002	0.0005	0.0006	0.182	0.24090	T	.	.	.	0.593	0.39147	P	0.196	0.36635	B	0.007409	0.31413	N	0.274614	0.993839	0.42069	D	.	.	.	1.32	0.35219	T	-2.33	0.51646	N	0.243	0.30687	-1.1191	0.02389	T	0.044	0.18783	T	10	0.069197	0.09894	T	0.013196	0.32416	T	0.052	0.14661	.	.	0.112648838833	0.10856	0.642814151654839	0.64216	0.128141445602	0.14447	0.335283964872	0.15731	T	0.200976	0.55872	T	-0.495647	0.00605	T	-0.571469	0.15316	T	0.0440504338565283	0.04430	T	0.768023	0.39669	T	0.06296629	0.13209	0.10134664	0.24258	0.07242695	0.16109	0.09471136	0.22430	-6.925	0.53558	T	.	.	0.084	0.10497	B	.;.;.;.	.;.;.;.	1.597920	0.20432	14.75	0.97230563542253512	0.32946	0.91872	0.54446	D	AEFDBI	0.442108	0.49997	N	-0.467074887634624	0.23166	1.242073	-0.462299173890295	0.23200	1.264012	0.999998815023886	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.527494	0.11647	0	0.735409	0.98432	0	.	.	5.92	3.17	0.35510	1.535000	0.35667	-0.200000	0.10954	-0.916000	0.02226	0.931000	0.32310	0.000000	0.08366	0.099000	0.18236	0.0:0.7927:0.0:0.2073	10.704	0.45143	727	0.54702	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	0	0	0	0	0.02381	772.98	95	chr6	142417306	.	C	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e-01;DP=778;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=-7.830e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:58,37:95:99:787,0,1364	20	0	1	0
chr6	144187216	144187216	G	A	exonic	STX11	.	nonsynonymous SNV	STX11:NM_003764:exon2:c.G589A:p.V197M,	Hemophagocytic lymphohistiocytosis, familial, 4, Autosomal recessive	.	0	1488	33	1	0	35	0.011624	.	.	301660	Familial_hemophagocytic_lymphohistiocytosis_4|not_provided|STX11-related_disorder|Autoinflammatory_syndrome	MONDO:MONDO:0011336,MedGen:C1863728,OMIM:603552,Orphanet:540|MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.892	P	0.21	B	0.000	D	0.683	N	1.59	L	1.96	T	-1.108	T	0.023	T	0.21	3.457	17.71	4.3	1.154	6.751	14.945	0.076	0.00971965578042	0.0002	0.000798722	0.0004	0	8.66e-05	0	0	0.0003	0	0.0019	0.0004204	65	154602	rs141499372	0.0004	0.0004	0.0003	0.0005	0.0050	0.0004	0.0004	0.0036	0.0031	5.974e-05	0.0002	0	0	0	0.0050	0.0002	0.0005	0.0027	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	4.809e-05	0	0.0016	0	0	0	0.0034	0.0003	0	0.0023	0.052	0.39097	T	0.089	0.40426	T	0.892	0.49086	P	0.21	0.37304	B	0.000048	0.53742	D	0.122706	0.682758	0.30263	N	2.255	0.64187	M	1.96	0.22270	T	-0.72	0.20358	N	0.31	0.34981	-1.1084	0.03210	T	0.023	0.09741	T	10	0.015579969	0.00327	T	0.00972	0.25381	T	0.076	0.22200	.	.	0.490908442424	0.48723	0.34912340342413467	0.34826	0.724596477256	0.62404	0.636289834976	0.58037	T	0.023504	0.17932	T	-0.489034	0.00658	T	-0.481098	0.24329	T	0.0736005887976587	0.09148	T	0.894511	0.63379	D	0.25583345	0.48619	0.27752128	0.53706	0.25583345	0.48619	0.27752128	0.53705	-5.08	0.37696	T	0.3849737830796823	0.47889	0.193	0.41326	B	.	.	3.359816	0.46376	22.3	0.99781715947512606	0.86867	0.96871	0.71393	D	AEFDBI	0.673552	0.63957	D	0.306716585663016	0.56492	3.814041	0.349285329582601	0.58464	4.01706	0.999697431973278	0.41870	0.67177	0.52595	0	0.702456	0.74545	0	0.48864	0.07692	0	0.635551	0.53088	0	.	.	5.18	4.3	0.50540	6.872000	0.75336	5.843000	0.50266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.8564:0.1436	14.945	0.70675	793	0.45818	Syntaxin, 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	2328.98	194	chr6	144187216	.	G	A	2328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=952;ExcessHet=0.0000;FS=8.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-2.175e+00;SOR=1.231	GT:AD:DP:GQ:PL	0/1:105,89:194:99:2343,0,2483	20	0	1	0
chr6	144490135	144490135	C	T	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_007124:exon30:c.C4199T:p.S1400F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.836	P	0.326	B	0.063	N	1.000	D	1.39	L	2.22	T	-1.117	T	0.031	T	0.233	3.830	19.45	5.58	2.780	3.421	19.922	0.066	0.00594223496831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	1.874e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	.	.	.	0.836	0.46303	P	0.326	0.41929	B	0.063226	0.22041	N	0.387666	1	0.08975	N	1.79	0.46772	L	2.22	0.18248	T	-1.91	0.44471	N	0.254	0.28732	-1.1170	0.02531	T	0.031	0.13155	T	10	0.25658664	0.43064	T	0.005942	0.15490	T	0.066	0.19193	0.285	0.24280	0.290962096972	0.28708	0.24082399480468444	0.23996	0.225162258563	0.25054	0.315469801426	0.12735	T	0.422484	0.77354	T	-0.186923	0.22710	T	-0.506278	0.21699	T	0.619372075279953	0.37180	D	0.719828	0.33277	T	0.084465034	0.19552	0.104698226	0.25153	0.084465034	0.19551	0.104698226	0.25152	-6.699	0.51803	T	.	.	0.100	0.17232	B	.	.	2.651750	0.34524	19.65	0.99521811674786753	0.69284	0.39611	0.26251	N	AEFBI	0.174062	0.30117	N	0.0618582540162536	0.44689	2.738463	0.0355063740986425	0.41375	2.485	0.997706710696329	0.35927	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	3.449000	0.52713	3.273000	0.37174	0.599000	0.40250	0.126000	0.23278	0.090000	0.22521	0.672000	0.33309	0.0:1.0:0.0:0.0	19.922	0.97090	894	0.26265	.	.	.	.	.	.	Uncertain significance	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	1117.98	109	chr6	144490135	.	C	T	1117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.110e-01;DP=854;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.389e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1132,0,1532	20	0	1	0
chr6	152390293	152390293	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon53:c.G8185A:p.V2729I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	2	1505	15	0	0	15	0.00495868	.	.	195116	not_specified|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|SYNE1-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.008	B	0.006	B	0.407	N	1.000	N	1.61	L	1.36	T	-1.054	T	0.023	T	0.078	2.728	15.08	-12.3	-2.435	-0.835	7.246	0.039	.	0.0072	0.00319489	0.0063	0.0014	0.0016	0.0001	0.0111	0.0090	0.0033	0.0035	0.0062224	962	154602	rs151091241	0.0075	0.0075	0.0074	0.0076	0.0083	0.0074	0.0073	0.0081	0.0081	0.0012	0.0017	0.0111	0.0002	0.0104	0.0063	0.0083	0.0064	0.0039	0.0067	0.0067	0.0069	0.0064	0.0097	0.0063	0.0062	0.0091	0.0088	0.0019	0.0285	0.0040	0.0127	0	0.0116	0.0034	0.0097	0.0057	0.0031	0.533	0.06957	T	0.141	0.33780	T	0.001	0.07471	B	0.001	0.04355	B	0.406975	0.04568	N	1.358490	1	0.08975	N	0.975	0.24501	L	1.36	0.34452	T	0.09	0.06253	N	0.118	0.10769	-1.0545	0.13172	T	0.023	0.09832	T	10	0.0038227737	0.00072	T	.	.	.	0.039	0.10176	.	.	0.0846915920261	0.08053	0.024331021736669012	0.02384	0.106343627862	0.12022	0.233329594135	0.02224	T	0.120855	0.44340	T	-0.681705	0.00047	T	-0.742604	0.03782	T	0.00260534037458298	0.00027	T	0.268673	0.04486	T	0.018339487	0.00355	0.02465878	0.00489	0.016190654	0.00182	0.026594866	0.00757	-3.85	0.21553	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	-1.343160	0.00403	0.008	0.68992732397319667	0.08831	0.01856	0.05735	N	AEFI	0.081305	0.16450	N	-1.58915516320912	0.01319	0.05746705	-1.70972514132429	0.01095	0.04919225	0.999999974319441	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	-12.3	0.00001	-0.705000	0.05154	-14.321000	0.00410	-1.988000	0.00457	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.0662:0.2809:0.1314:0.5215	7.246	0.25296	863	0.32847	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1563.98	110	chr6	152390293	.	C	T	1563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=906;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=1.58;SOR=0.567	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1578,0,1249	20	0	1	0
chr6	152401319	152401319	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon47:c.A6869G:p.Q2290R	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.067	B	0.012	B	0.000	D	1.000	D	1.23	L	1.29	T	-1.094	T	0.041	T	0.379	2.189	13.28	5.82	2.223	3.708	16.174	0.048	0.0153045295158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.759	0.05345	T	0.003	0.11197	B	0.002	0.06944	B	0.000022	0.55875	D	0.000000	0.993949	0.29270	N	2.045	0.56016	M	1.29	0.35775	T	-0.84	0.22944	N	0.48	0.57775	-1.0943	0.04854	T	0.041	0.17785	T	10	0.24553087	0.41803	T	0.015305	0.35967	T	0.048	0.13305	0.221	0.14371	0.411665641125	0.40782	0.10621293164584546	0.10551	0.146165741944	0.16499	0.489404797554	0.37355	T	0.127004	0.45375	T	-0.118683	0.33338	T	-0.408257	0.32427	T	0.426892491444524	0.29946	T	0.848615	0.53011	T	0.22798643	0.45510	0.22733557	0.47740	0.22798643	0.45510	0.22733557	0.47739	-3.803	0.20849	T	.	.	0.107	0.20235	B	.;.;.	.;.;.	2.909934	0.38592	20.8	0.98011153014636709	0.37559	0.96791	0.70958	D	AEFBI	0.656371	0.62838	D	-0.083792211241366	0.38103	2.226566	0.116104568689682	0.45372	2.801541	0.999999973159148	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	3.904000	0.56038	7.784000	0.68736	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.174	0.81654	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	620.98	66	chr6	152401319	.	T	C	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.919e+00;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=0.989;SOR=0.653	GT:AD:DP:GQ:PL	0/1:37,29:66:99:635,0,1080	20	0	1	0
chr6	158745639	158745641	AAG	-	exonic	SYTL3	.	nonframeshift deletion	SYTL3:NM_001318745:exon9:c.397_399del:p.K136del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.697e-05	0	0	0	0	3.1e-05	0	0	2.59e-05	4	154602	rs772707010	3.108e-05	3.078e-05	3.983e-05	2.222e-05	3.973e-05	2.369e-05	2.115e-05	3.011e-05	2.682e-05	0	0	0	0	0	0	3.973e-05	1.671e-05	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1847.94	97	chr6	158745638	.	AAAG	A	1847.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=934;ExcessHet=0.0000;FS=4.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.05;ReadPosRankSum=-2.200e-02;SOR=1.152	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1862,0,1769	20	0	1	0
chr6	160024666	160024666	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon5:c.C608T:p.P203L,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.028	B	0.005	B	0.062	N	1.000	N	2.665	M	2.55	T	-1.035	T	0.020	T	0.058	1.867	12.20	3.48	1.301	0.576	10.187	0.078	.	0.0045	0.00379393	0.0013	0.0137	8.637e-05	0	0	0.0001	0	0.0003	0.0012484	193	154602	rs8191746	0.0005	0.0005	0.0005	0.0004	0.0138	0.0005	0.0004	0.0128	0.0124	0.0138	0.0008	0	0.0002	0	0.0016	9.353e-05	0.0009	0.0003	0.0039	0.0039	0.0039	0.0038	0.0129	0.0036	0.0035	0.0120	0.0116	0.0129	0	0.0020	0	0	0	0	0.0002	0.0019	0.0002	0.06	0.37326	T	0.051	0.47828	T	0.028	0.19712	B	0.005	0.11217	B	0.061708	0.22151	N	0.531000	0.99998	0.18612	N	.	.	.	2.55	0.13795	T	-2.93	0.61284	D	0.174	0.18649	-1.0349	0.18888	T	0.020	0.08313	T	10	0.0041704774	0.00083	T	.	.	.	0.078	0.22779	.	.	0.223474106383	0.21959	0.4379573584324575	0.43712	0.0938416663665	0.10600	0.39024040103	0.23704	T	0.22555	0.59031	T	-0.665289	0.00058	T	-0.716741	0.04954	T	0.0140093111549213	0.00270	T	0.692631	0.30204	T	0.11910791	0.28051	0.0976164	0.23242	0.12349674	0.28997	0.08817229	0.20542	-5.605	0.42838	T	.	.	0.096	0.15206	B	.;.	.;.	2.323299	0.29754	18.22	0.92379950965446378	0.21787	0.16151	0.19254	N	AEFBI	0.092705	0.18765	N	-0.535355912324146	0.20945	1.107943	-0.559190741693621	0.20561	1.108381	0.996783199652728	0.35006	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	3.48	0.38946	1.202000	0.31878	1.390000	0.26108	0.599000	0.40250	0.087000	0.22510	0.027000	0.21108	0.476000	0.28476	0.1444:0.773:0.0:0.0826	10.187	0.42180	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	311.98	83	chr6	160024666	.	C	T	311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=782;ExcessHet=0.0000;FS=8.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=-2.930e-01;SOR=1.061	GT:AD:DP:GQ:PL	0/1:62,21:83:99:326,0,1159	20	0	1	0
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del,	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,27,0:88:99:.:.:917,0,2328,1100,2416,3516	14	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,27,0:88:99:.:.:917,0,2328,1100,2416,3516	14	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,27,0:88:99:.:.:917,0,2328,1100,2416,3516	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,0,27:88:99:.:.:917,1100,3516,0,2416,2328	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,0,27:88:99:.:.:917,1100,3516,0,2416,2328	12	0	2	1
chr6	167976297	167976297	G	0	exonic	HGC6.3	.	.	.	.	.	4	213	8	0	1	9	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	597.91	88	chr6	167976297	.	G	A,*	597.91	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=0.024;DP=1081;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0153;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.37;MQRankSum=-2.210e-01;QD=3.36;ReadPosRankSum=1.13;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,0,27:88:99:.:.:917,1100,3516,0,2416,2328	15	0	2	2
chr6	167976300	167976300	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C353T:p.A118V,	.	.	459	1006	40	3	14	60	0.0223518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.0041	0.0241	0.0088	0.0294	0.0098	0.0152	0.0028	0.0001153	3	26028	rs1453684562	0.0001	0.0008	9.497e-05	0.0001	0.0005	8.734e-05	8.111e-05	0.0003	0.0003	0	0.0004	0	0.0003	0.0009	0.0003	5.814e-05	0.0001	0.0005	0.0020	0.0089	0.0018	0.0022	0.0027	0.0017	0.0017	0.0018	0.0016	0.0022	0.0017	0.0018	0.0019	0.0021	0.0020	0	0.0018	0.0035	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,0,27:88:99:.:.:917,1100,3516,0,2416,2328	16	0	2	1
chr6	167976300	167976300	G	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,0,27:88:99:.:.:917,1100,3516,0,2416,2328	16	0	2	1
chr6	167976307	167976307	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C346T:p.P116S,	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0018	0.0035	0.0022	0.0278	0.0059	0	0	0.0003622	56	154602	rs71573433	1.516e-05	0.0002	1.454e-05	1.583e-05	0.0003	8.79e-06	6.88e-06	7.2e-06	2.69e-06	0	0	0	0.0003	0.0003	0	5.095e-06	0	4.341e-05	0.0006	0.0041	0.0005	0.0008	0.0009	0.0005	0.0005	0.0006	0.0005	0.0004	0.0013	0.0009	0.0010	0.0009	0.0002	0	0.0008	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,0,27:88:99:.:.:917,1100,3516,0,2416,2328	16	0	2	1
chr6	167976307	167976307	G	0	exonic	HGC6.3	.	.	.	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,0,27:88:99:.:.:917,1100,3516,0,2416,2328	16	0	2	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	8324.06	88	chr6	167976329	.	T	G,*	8324.06	.	AC=9,1;AF=0.281,0.031;AN=32;BaseQRankSum=2.86;DP=1186;ExcessHet=0.0120;FS=13.202;InbreedingCoeff=0.2945;MLEAC=11,1;MLEAF=0.344,0.031;MQ=51.60;MQRankSum=0.844;QD=22.68;ReadPosRankSum=0.073;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,0,27:88:99:.:.:917,1100,3516,0,2416,2328	9	3	3	5
chr6	167976539	167976539	T	0	exonic	HGC6.3	.	.	.	.	.	606	741	134	1	40	176	0.0840544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	846.58	47	chr6	167976539	.	T	G,*	846.58	.	AC=4,2;AF=0.200,0.100;AN=20;BaseQRankSum=0.039;DP=1478;ExcessHet=0.0018;FS=1.846;InbreedingCoeff=0.2202;MLEAC=6,2;MLEAF=0.300,0.100;MQ=54.59;MQRankSum=-4.254e+00;QD=4.73;ReadPosRankSum=1.28;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,9,0:47:99:0|1:167976539_T_G:236,0,1483,354,1521,1933:167976539	6	1	2	11
chr6	167976540	167976540	T	0	exonic	HGC6.3	.	.	.	.	.	602	743	109	1	67	178	0.0695053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	759.27	105	chr6	167976540	.	T	*,A	759.27	.	AC=3,3;AF=0.150,0.150;AN=20;BaseQRankSum=0.168;DP=1478;ExcessHet=0.0018;FS=0.997;InbreedingCoeff=0.2202;MLEAC=3,5;MLEAF=0.150,0.250;MQ=54.68;MQRankSum=-2.539e+00;QD=2.18;ReadPosRankSum=-5.800e-01;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:38,58,9:105:99:0|1:167976539_T_G:236,255,1840,0,1422,1483:167976539	6	1	0	11
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,0:42:99:1|1:170561949_GCAA_G:1549,128,0,1550,129,1552:170561949	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|1:10,69,0,0:79:99:0|1:170561949_GCAA_G:2321,0,140,2053,461,3405,2053,461,3405,3405:170561949	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|2:79,0,9:88:63:1|0:170561949_GCAA_G:63,408,4211,0,2869,2629:170561949	1	1	3	2
chr7	756962	756962	G	A	exonic	DNAAF5	.	nonsynonymous SNV	DNAAF5:NM_017802:exon6:c.G1438A:p.A480T,	Ciliary dyskinesia, primary, 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.926	P	0.653	P	0.002	N	1.000	N	1.545	L	-0.15	T	-0.862	T	0.135	T	0.272	2.853	15.50	3.52	1.326	3.092	6.565	0.137	0.025673446973	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411441157	1.376e-06	2.052e-06	1.369e-06	1.382e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.033	0.53072	D	0.879	0.48338	P	0.451	0.46123	P	0.002441	0.36537	N	0.238872	0.630557	0.30702	N	.	.	.	-0.15	0.65192	T	-1.69	0.40274	N	0.188	0.20528	-0.8616	0.51147	T	0.135	0.44875	T	10	0.22555548	0.39388	T	0.025673	0.48627	D	0.137	0.36984	0.347	0.34274	0.173771789658	0.16945	0.1262682262051053	0.12552	0.192663589833	0.21591	0.400944411755	0.25200	T	0.065882	0.32803	T	-0.0485394	0.44668	T	-0.3075	0.43926	T	0.771409511566162	0.44524	D	0.675632	0.28413	T	0.051227484	0.09377	0.08830591	0.20580	0.051227484	0.09376	0.08830591	0.20580	-3.172	0.12141	T	0.5050446018539776	0.57965	0.112	0.21840	B	.	.	2.502251	0.32303	19.00	0.99831982378415318	0.91370	0.94506	0.61385	D	AEFGBI	0.357012	0.44819	N	0.0443169374413865	0.43881	2.672525	0.0467609310266956	0.41914	2.526285	0.669940786210497	0.22364	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	3.52	0.39415	3.001000	0.49176	3.010000	0.35957	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0953:0.0:0.5179:0.3869	6.565	0.21703	929	0.16858	.	.	.	.	.	.	Uncertain significance	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	2130.98	152	chr7	756962	.	G	A	2130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=922;ExcessHet=0.0000;FS=2.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=0.857;SOR=0.466	GT:AD:DP:GQ:PL	0/1:76,76:152:99:2145,0,1902	20	0	1	0
chr7	4835210	4835210	G	C	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon4:c.C813G:p.D271E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.380	N	0.997	N	-1.905	N	3.46	T	-0.975	T	0.017	T	0.055	0.033	4.183	-0.929	-0.187	0.238	6.883	0.060	0.0113212063759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.84e-07	0	1.377e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.380259	0.04416	N	1.480890	0.996937	0.22851	N	-1.56	0.00457	N	3.46	0.05249	T	1.13	0.01182	N	0.055	0.02658	-0.9746	0.36213	T	0.017	0.06807	T	10	0.04378012	0.03264	T	0.011321	0.28825	T	0.147	0.38986	0.307	0.27806	0.0986583533028	0.09354	0.2679564993953277	0.26708	0.0415351482305	0.04460	0.498170495033	0.38573	T	0.001101	0.00619	T	-0.395151	0.02490	T	-0.805383	0.01771	T	0.0364246277960856	0.03054	T	0.662834	0.27173	T	0.0363297	0.04449	0.03548026	0.02807	0.0363297	0.04449	0.03548026	0.02806	-1.873	0.02736	T	.	.	0.091	0.13315	B	.	.	1.338611	0.17450	13.17	0.74674720401519912	0.10784	0.51984	0.29024	D	AEFDGBCI	0.122967	0.23836	N	-0.510866568960097	0.21727	1.155227	-0.393890527159633	0.25178	1.383092	4.04050413286549E-4	0.06860	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.75	-0.929	0.09913	0.168000	0.16438	-0.018000	0.12964	0.676000	0.76740	0.970000	0.34288	0.719000	0.26340	0.999000	0.91618	0.0:0.5387:0.2113:0.25	6.883	0.23366	809	0.43032	.	.	.	.	.	.	Uncertain significance	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	404.98	40	chr7	4835210	.	G	C	404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=786;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-1.006e+00;SOR=1.538	GT:AD:DP:GQ:PL	0/1:25,15:40:99:419,0,613	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,14,0:33:99:.:.:302,0,450,357,491,848	0	6	14	0
chr7	5388800	5388800	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.C1024T:p.P342S,	.	.	389	1116	17	0	0	17	0.00755892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.3	B	0.045	B	.	.	0.995	N	0.55	N	2.71	T	-0.973	T	0.019	T	0.133	-0.076	3.628	2.46	0.621	1.141	9.702	0.020	0.273069471669	.	0.000998403	0	.	.	.	.	0	.	0	0.0008068	21	26028	rs545967660	0.0023	0.0020	0.0022	0.0024	0.0106	0.0022	0.0022	0.0075	0.0065	0.0006	0.0026	0.0002	5.167e-05	9.114e-05	0.0106	0.0023	0.0032	0.0068	0.0017	0.0017	0.0017	0.0017	0.0079	0.0015	0.0015	0.0059	0.0052	0.0004	0	0.0022	0	0	0	0.0034	0.0024	0.0034	0.0079	0.479	0.08261	T	0.436	0.13480	T	0.3	0.32550	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	2.71	0.12055	T	-0.95	0.25332	N	0.155	0.27792	-0.9728	0.36605	T	0.019	0.07893	T	9	0.007889897	0.00179	T	0.273069	0.89953	D	0.020	0.03691	.	.	0.043077524339	0.03247	0.12455198349304658	0.12381	1.69600566787	0.90213	0.786305367947	0.79881	T	0.004678	0.04092	T	-0.626848	0.00100	T	-0.673071	0.07413	T	0.0416126427995412	0.03984	T	0.50395	0.15873	T	0.059168212	0.11992	0.10602899	0.25498	0.059168212	0.11992	0.10602899	0.25498	-4.589	0.32033	T	.	.	0.079	0.07412	B	.;.	.;.	0.707370	0.10760	7.449	0.93279535666154278	0.22982	0.10843	0.16231	N	AEFBCI	0.086737	0.17587	N	-0.870499814105625	0.11549	0.5579286	-0.900719528568263	0.12076	0.6191579	0.0256959790869053	0.13665	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.604944	0.38103	0	.	.	3.35	2.46	0.29032	0.568000	0.23326	0.488000	0.18872	0.558000	0.28311	0.442000	0.26503	0.957000	0.29195	0.039000	0.14166	0.0:0.6036:0.3964:0.0	9.702	0.39359	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	267.98	17	chr7	5388800	.	G	A	267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=498;ExcessHet=0.0000;FS=1.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=-2.010e-01;SOR=1.270	GT:AD:DP:GQ:PL	0/1:6,11:17:99:282,0,153	20	0	1	0
chr7	5388991	5388991	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.C833T:p.P278L,	.	.	409	1110	2	1	0	4	0.00179856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.216	B	0.028	B	.	.	0.537	N	0.695	N	2.72	T	-1.007	T	0.023	T	0.085	0.479	6.599	3.44	0.773	4.503	10.151	0.032	0.347676181906	.	0.00139776	0.0021	0	0	0	0	0	0	0.0032	0.0001746	27	154602	rs541723803	0.0001	0.0001	5.792e-05	0.0002	0.0017	9.943e-05	9.392e-05	0.0015	0.0014	0	0	0	0	0	0.0002	2.126e-05	0.0002	0.0017	0.0002	0.0002	7.851e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	4.845e-05	0	6.652e-05	0	0	0	0	0	0	0.0048	0.123	0.27544	T	0.171	0.30339	T	0.216	0.30161	B	0.028	0.21332	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.72	0.11947	T	-1.85	0.43334	N	0.185	0.22614	-1.0068	0.27912	T	0.023	0.09650	T	9	0.007940739	0.00180	T	0.347676	0.92185	D	0.032	0.07718	0.383	0.40134	0.043077524339	0.03247	0.0666382561044999	0.06601	1.70653453461	0.90380	0.832072138786	0.86880	D	0.024364	0.18426	T	-0.620219	0.00110	T	-0.670154	0.07599	T	0.0374629287121547	0.03237	T	0.560444	0.19591	T	0.07132448	0.15781	0.07093945	0.15133	0.07132448	0.15780	0.07093945	0.15133	-4.168	0.26286	T	.	.	0.213	0.44135	B	.;.	.;.	2.434066	0.31314	18.70	0.93158241780075912	0.22809	0.63778	0.32196	D	AEFDBHCI	0.362833	0.45195	N	-0.474195059788077	0.22929	1.22772	-0.431340882689063	0.24082	1.316827	0.999237438309829	0.38840	0.660377	0.49826	0	0.694456	0.67091	0	0.606814	0.37721	0	0.699875	0.68795	0	.	.	4.35	3.44	0.38486	3.155000	0.50398	5.032000	0.46835	0.576000	0.29215	0.997000	0.40164	1.000000	0.68203	0.084000	0.17470	0.0:0.1592:0.6969:0.1439	10.151	0.41969	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	765.98	66	chr7	5388991	.	G	A	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.817;DP=835;ExcessHet=0.0000;FS=0.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=0.776;SOR=0.576	GT:AD:DP:GQ:PL	0/1:32,34:66:99:780,0,634	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/2:11,0,8,0,0,0,0:19:99:172,205,566,0,360,337,205,566,360,566,205,566,360,566,566,205,566,360,566,566,566,205,566,360,566,566,566,566	1	3	5	0
chr7	23781504	23781504	A	G	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon16:c.A1982G:p.H661R	.	.	449	1021	49	3	0	55	0.0262279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.182	N	0.989	N	0.46	N	1.58	T	-1.020	T	0.070	T	0.163	-1.497	0.017	-0.062	-0.017	0.944	10.015	0.064	.	0.0045	0.0103834	0.0079	0.0009	0.0026	0.0002	0.0003	0.0066	0.0111	0.0278	0.0073996	1144	154602	rs41273999	0.0060	0.0061	0.0053	0.0067	0.0278	0.0059	0.0059	0.0269	0.0265	0.0011	0.0030	0.0096	7.602e-05	0.0010	0.0209	0.0048	0.0079	0.0278	0.0042	0.0042	0.0038	0.0045	0.0263	0.0039	0.0038	0.0226	0.0212	0.0008	0	0.0044	0.0078	0	0.0005	0.0068	0.0053	0.0047	0.0263	0.662	0.04671	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.505693	0.988811	0.24368	N	0.49	0.13296	N	-0.15	0.65192	T	-0.35	0.12847	N	0.173	0.37301	-1.0199	0.23747	T	0.070	0.28708	T	10	0.0037102103	0.00068	T	.	.	.	0.064	0.18567	.	.	0.489938136499	0.48625	0.3644048311763441	0.36354	0.0671763946976	0.07503	0.306679606438	0.11405	T	7.55E-4	0.00354	T	-0.516774	0.00459	T	-0.494814	0.22886	T	0.000411108664880323	0.00003	T	0.60444	0.23473	T	0.040007167	0.05631	0.057216644	0.10363	0.040007167	0.05631	0.057216644	0.10362	-2.327	0.04705	T	.	.	0.054	0.00478	B	.;.;.	.;.;.	1.417616	0.18337	13.68	0.17921150690072041	0.00542	0.43593	0.27132	N	AEFI	0.079134	0.15977	N	-0.806970563940849	0.13132	0.644779	-0.670014664965709	0.17712	0.9430189	1.64631360154252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	-0.0622	0.13113	0.959000	0.28838	0.915000	0.22659	0.691000	0.84096	0.997000	0.40164	0.408000	0.24745	0.927000	0.46353	0.4894:0.0:0.5106:0.0	10.015	0.41180	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	0	0	0	1	0	0	0	0.04762	2548.11	111	chr7	23781504	.	A	G	2548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.268;DP=897;ExcessHet=0.1072;FS=1.015;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=2.34;SOR=0.796	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1227,0,1214	19	0	2	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2015.4	153	chr7	27094574	.	GACCC	G	2015.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.128e+00;DP=1455;ExcessHet=1.1607;FS=134.511;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=2.43;ReadPosRankSum=1.51;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,23:153:99:0|1:27094574_GACCC_G:179,0,4812:27094574	16	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1814.7	153	chr7	27094578	.	C	CGGGG	1814.7	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.330e+00;DP=1572;ExcessHet=1.1607;FS=125.938;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=1.71;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,23:153:99:0|1:27094574_GACCC_G:179,0,4812:27094574	15	0	5	1
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	1/1:0,141,0:141:99:.:.:4530,423,0,4530,423,4530	0	18	1	0
chr7	30436076	30436076	G	A	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon10:c.C2459T:p.A820V	.	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.98	D	0.000	D	1.000	D	1.07	L	0.58	T	-0.889	T	0.202	T	0.695	0.352	5.908	5.34	2.508	6.982	15.776	0.227	0.0249639287398	7.7e-05	.	1.654e-05	0	0	0	0	1.503e-05	0	6.08e-05	1.29e-05	2	154602	rs372554109	2.875e-05	2.941e-05	2.18e-05	3.577e-05	0.0003	2.153e-05	1.909e-05	8.888e-05	7.055e-05	0	0	0	0	0	0.0003	2.25e-05	3.314e-05	0.0002	6.569e-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	1.0	0.00964	T	0.011	0.64786	D	1.0	0.90584	D	0.98	0.74843	D	0.000001	0.84330	D	0.053432	0.999984	0.54805	D	1.325	0.33218	L	0.58	0.54149	T	-0.37	0.13226	N	0.746	0.74553	-0.8893	0.48995	T	0.202	0.55877	T	10	0.76973903	0.76986	D	0.024964	0.47953	T	0.227	0.52620	.	.	0.832295537727	0.83070	0.5176414387833589	0.51687	0.65539385403	0.58582	0.489952355623	0.37431	T	0.041611	0.25916	T	-0.0702216	0.41292	T	-0.157117	0.58609	T	0.493630349636078	0.32397	T	0.947205	0.79675	D	0.07458725	0.16748	0.114679106	0.27683	0.07458725	0.16748	0.114679106	0.27682	-3.643	0.18481	T	.	.	0.591	0.68487	P	.	.	3.628451	0.51387	23.1	0.79371502661730631	0.12711	0.98445	0.82852	D	AEFDGBI	0.559977	0.56857	D	0.276690924460759	0.54969	3.661454	0.259420927163009	0.53186	3.488914	0.999999951686319	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	6.846000	0.75195	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	15.776	0.77992	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1451.98	123	chr7	30436076	.	G	A	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.870e-01;DP=828;ExcessHet=0.0000;FS=5.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=2.51;SOR=0.363	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1466,0,1510	20	0	1	0
chr7	36513336	36513336	C	T	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177506:exon22:c.G1763A:p.S588N,	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.003	B	.	.	1.000	N	.	.	-1.25	T	-0.753	T	0.276	T	0.24	2.001	12.65	2.83	1.173	0.066	5.858	0.231	.	7.7e-05	0.00499201	0.0032	0	0.0003	0.0001	0	5.998e-05	0.0132	0.0225	0.0027167	420	154602	rs148942391	0.0015	0.0015	0.0008	0.0022	0.0229	0.0014	0.0014	0.0221	0.0218	2.987e-05	0	3.826e-05	5.038e-05	1.872e-05	0.0003	0.0001	0.0012	0.0229	0.0007	0.0007	0.0004	0.0010	0.0214	0.0006	0.0005	0.0180	0.0168	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	.	.	.	.	.	.	0.267	0.30233	-0.7527	0.57794	T	0.276	0.64824	T	8	0.0028563738	0.00046	T	.	.	.	.	.	.	.	0.365317461125	0.36143	0.2538663900635046	0.25300	.	.	0.341022610664	0.16591	T	0.006708	0.06137	T	-0.504894	0.00536	T	-0.480436	0.24400	T	0.0149350470208539	0.00318	T	0.40106	0.10202	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33296	B	.	.	0.261322	0.06400	2.865	0.98972545973808623	0.49560	0.02194	0.06410	N	AEFI	0.051911	0.09217	N	-0.479833644712356	0.22743	1.216506	-0.432471696410468	0.24049	1.314869	0.303440115610077	0.19212	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.82	2.83	0.32150	0.078000	0.14615	0.581000	0.19707	0.599000	0.40250	0.010000	0.18352	0.465000	0.25022	0.611000	0.31665	0.0:0.637:0.2527:0.1103	5.858	0.17978	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	73	chr7	36513336	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.477;SOR=0.741	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1218,0,738	20	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,34,0:105:99:0|1:47829595_G_C:186,0,1675,392,1768,2160:47829595	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,34,0:105:99:0|1:47829595_G_C:186,0,1675,392,1768,2160:47829595	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,34,0:105:99:0|1:47829595_G_C:186,0,1675,392,1768,2160:47829595	0	0	17	1
chr7	48587169	48587169	A	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon57:c.A14521G:p.I4841V,	.	.	417	1098	7	0	0	7	0.00317749	.	.	722567	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.37	T	0.002	B	0.002	B	0.013	N	1.000	N	1.08	L	1.08	T	-1.036	T	0.073	T	0.191	-2.491	0.003	3.87	0.715	2.067	7.876	0.060	0.00242683891609	0.0023	0.00139776	0.0034	0.0006	0.0012	0.0001	0.0007	0.0043	0.0049	0.0057	0.0028913	447	154602	rs75519473	0.0031	0.0031	0.0030	0.0031	0.0053	0.0030	0.0030	0.0049	0.0048	0.0004	0.0009	0.0043	2.523e-05	0.0006	0.0017	0.0033	0.0027	0.0053	0.0020	0.0020	0.0020	0.0019	0.0037	0.0018	0.0017	0.0027	0.0025	0.0007	0	0.0010	0.0066	0.0002	0.0007	0.0034	0.0030	0.0019	0.0037	1.0	0.09155	T	1.0	0.07543	T	.	.	.	.	.	.	0.012934	0.29007	N	0.163809	1	0.08975	N	.	.	.	1.08	0.39401	T	-0.28	0.11547	N	0.151	0.15469	-1.0363	0.18450	T	0.073	0.29515	T	10	0.0100777745	0.00226	T	0.002427	0.04785	T	0.060	0.17295	.	.	0.286081765059	0.28222	0.11503681837545145	0.11431	0.0237141939461	0.02403	0.272936403751	0.06527	T	.	.	.	-0.549141	0.00295	T	-0.560213	0.16357	T	0.00852210004074327	0.00104	T	0.486851	0.14885	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06114	B	.;.	.;.	1.471160	0.18953	14.01	0.21403867538941787	0.00814	0.01568	0.05122	N	AEFBI	0.025485	0.01752	N	-0.749825139040131	0.14638	0.7308592	-0.669679199437181	0.17720	0.9435058	9.5747396805198E-5	0.04910	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	3.87	0.43823	2.534000	0.45334	4.213000	0.42544	-0.137000	0.12594	0.996000	0.39380	1.000000	0.68203	0.085000	0.17524	0.0853:0.3073:0.6074:0.0	7.876	0.28755	806	0.43582	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase 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	541.98	56	chr7	48587169	.	A	G	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.172e+00;DP=755;ExcessHet=0.0000;FS=3.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.181;SOR=1.329	GT:AD:DP:GQ:PL	0/1:31,25:56:99:556,0,834	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	0/1:135,55:210:99:.:.:170,0,2189	5	0	11	5
chr7	57120721	57120721	T	C	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.A694G:p.K232E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.995	D	.	.	1.000	N	0.525	N	0.73	T	-0.995	T	0.127	T	0.121	1.342	10.41	-2.31	-0.460	-0.694	3.185	0.031	0.00235173392922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.63226	T	0.125	0.47336	T	0.999	0.77913	D	0.995	0.83170	D	.	.	.	.	1	0.08975	N	0.215	0.09537	N	0.73	0.50721	T	-3.5	0.72240	D	0.032	0.04188	-0.9953	0.31218	T	0.127	0.43462	T	9	0.10196987	0.20756	T	0.002352	0.04562	T	0.031	0.07369	0.316	0.29258	0.536709800451	0.53320	0.005311997520773123	0.00502	2.33552336505	0.96710	0.333855777979	0.15516	T	0.051476	0.36990	T	-0.270579	0.11692	T	-0.626444	0.10685	T	0.348601686440297	0.26964	T	0.125687	0.28992	T	0.06962811	0.15271	0.095615394	0.22684	0.06962811	0.15271	0.095615394	0.22683	-6.958	0.53727	T	.	.	0.119	0.30502	B	.;.;.	.;.;.	2.121013	0.27001	17.31	0.9380021370500069	0.23769	0.03298	0.08353	N	AEBHCI	0.023620	0.01342	N	-0.683603040190829	0.16489	0.8405417	-0.982707784557641	0.10173	0.5107245	4.0375864851549E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.31	0.06380	-0.614000	0.05699	.	.	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.2395:0.4581:0.3024	3.185	0.06203	952	0.10565	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1426.98	79	chr7	57120721	.	T	C	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.954e+00;DP=1194;ExcessHet=0.0000;FS=1.953;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=47.32;MQRankSum=-1.404e+00;QD=18.06;ReadPosRankSum=-5.850e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:25,54:79:99:1441,0,647	20	0	1	0
chr7	75992253	75992253	G	T	exonic	TMEM120A	.	nonsynonymous SNV	TMEM120A:NM_001317803:exon3:c.C208A:p.P70T	.	.	416	1092	13	1	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103834	0.0048	0	0.0003	0.0026	0	1.546e-05	0.0023	0.0366	0.0041332	639	154602	rs149750507	0.0022	0.0022	0.0014	0.0030	0.0318	0.0021	0.0021	0.0308	0.0304	0	9.191e-05	0	0.0052	0	0.0019	2.437e-05	0.0028	0.0318	0.0013	0.0013	0.0008	0.0018	0.0357	0.0011	0.0011	0.0314	0.0297	4.817e-05	0	0	0	0.0027	0	0	2.942e-05	0.0009	0.0357	.	.	.	0.526	0.17696	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	.	.	.	-0.315	0.03579	N	.	.	.	.	.	.	0.095	0.09772	.	.	.	.	.	.	.	0.0015527904	0.00018	T	.	.	.	.	.	.	.	0.209622950755	0.20551	0.10908756623488873	0.10837	.	.	0.253118813038	0.04104	T	0.014729	0.17603	T	-0.488318	0.00664	T	-0.449837	0.27716	T	.	.	.	0.672333	0.28129	T	0.059560627	0.12120	0.15561879	0.36470	0.059560627	0.12120	0.15561879	0.36470	-3.646	0.18524	T	.	.	0.065	0.03661	B	.;.;.;.	.;.;.;.	1.791173	0.22766	15.75	0.89020396470702079	0.18445	0.13887	0.18106	N	AEFDBCI	0.303518	0.41147	N	.	.	.	.	.	.	0.998207251632363	0.36574	0.295142	0.05270	0	0.27691	0.05143	1	0.295636	0.05589	0	0.322829	0.05601	0	.	.	4.63	1.53	0.22224	-0.107000	0.10843	1.465000	0.26711	-0.159000	0.11634	0.026000	0.20160	1.000000	0.68203	0.951000	0.49849	0.1724:0.2555:0.4251:0.1469	2.183	0.03643	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	284.98	40	chr7	75992253	.	G	T	284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.560e-01;DP=703;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=-7.940e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/1:26,14:40:99:299,0,690	20	0	1	0
chr7	76429540	76429540	G	A	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon2:c.G338A:p.S113N	.	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.785	P	0.495	P	0.567	N	1.000	D	2.76	M	-1.69	D	0.291	D	0.641	D	0.291	3.431	17.60	5.21	2.444	2.185	16.244	0.467	.	.	0.0161741	0.0066	0	0.0004	0.0014	0	3.001e-05	0.0033	0.0470	0.0058473	904	154602	rs140906109	0.0030	0.0030	0.0018	0.0043	0.0463	0.0030	0.0029	0.0451	0.0446	0.0001	0.0002	0	0.0049	0	0.0029	2.248e-05	0.0033	0.0463	0.0018	0.0019	0.0011	0.0027	0.0522	0.0017	0.0016	0.0469	0.0448	4.816e-05	0	0.0004	0	0.0029	0	0	2.941e-05	0.0019	0.0522	0.036	0.45393	D	0.032	0.53426	D	0.029	0.44430	B	0.037	0.47504	B	0.567316	0.11274	N	0.802830	0.994204	0.81001	D	3.12	0.87914	M	-1.69	0.82985	D	-1.43	0.35399	N	0.47	0.53532	0.291	0.87409	D	0.641	0.87461	D	10	0.008418739	0.00191	T	.	.	.	0.467	0.76222	.	.	0.791705908529	0.78977	0.772612362208062	0.77211	0.0221848989643	0.02225	0.444870829582	0.31243	T	0.462823	0.79903	T	-0.325309	0.06472	T	-0.20648	0.54031	T	0.0540429833937973	0.06196	T	0.643236	0.25495	T	0.22360739	0.44985	0.22723378	0.47727	0.2635537	0.49420	0.22723378	0.47726	-6.049	0.50417	T	0.4782862898648039	0.55742	0.159	0.41587	B	.;.	.;.	2.908676	0.38574	20.8	0.9952137729742988	0.69284	0.85141	0.44249	D	AEFDBCI	0.265783	0.38284	N	0.292174853981769	0.55753	3.739262	0.344972444976681	0.58206	3.989742	0.999999519705573	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.21	5.21	0.72005	1.435000	0.34578	2.563000	0.33324	0.676000	0.76740	0.959000	0.33545	0.999000	0.35428	0.907000	0.44265	0.0:0.0:1.0:0.0	16.244	0.82257	886	0.28090	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2252.98	181	chr7	76429540	.	G	A	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=967;ExcessHet=0.0000;FS=1.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-2.458e+00;SOR=0.879	GT:AD:DP:GQ:PL	0/1:95,86:181:99:2267,0,2410	20	0	1	0
chr7	80656694	80656694	C	G	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001127444:exon2:c.C275G:p.T92R	Platelet glycoprotein IV deficiency, Autosomal recessive	.	2	1513	6	1	0	8	0.00263678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.83	M	-0.77	T	0.338	D	0.641	D	0.978	4.403	23.3	5.53	2.749	6.670	18.600	0.767	0.0793477186756	0.0002	.	0.0001	0	0	0	0	9.016e-05	0.0011	0.0006	0.00011	17	154602	rs150037612	6.707e-05	6.704e-05	5.176e-05	8.254e-05	0.0033	5.632e-05	5.174e-05	0.0022	0.0018	0	2.237e-05	0	0	0	0.0033	2.429e-05	0.0002	0.0004	1.314e-05	1.313e-05	0	2.689e-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	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-0.77	0.73523	T	-5.63	0.86836	D	0.96	0.99015	0.338	0.88152	D	0.641	0.87469	D	9	0.8524009	0.84423	D	0.079348	0.73214	D	0.767	0.92129	.	.	0.858453494572	0.85709	0.9578888100787888	0.95773	3.71968781554E-4	0.00038	0.575086712837	0.49394	T	0.464663	0.80012	T	0.140497	0.68372	D	0.313469	0.88811	D	0.806989312171936	0.46835	D	0.889211	0.76886	D	0.9815828	0.99228	0.93036675	0.97120	0.9854074	0.99494	0.92626756	0.96836	-12.369	0.89339	D	0.5615337990810085	0.62926	0.699	0.81088	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.569636	0.72080	25.8	0.9935317107135504	0.60697	0.94817	0.62432	D	AEFCI	0.916664	0.88319	D	0.814140529960591	0.86982	9.063513	0.762004932357239	0.87050	9.090468	0.999999999990867	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	6.968000	0.75873	4.935000	0.46163	0.599000	0.40250	0.998000	0.41325	0.997000	0.33255	0.657000	0.32885	0.0:1.0:0.0:0.0	18.600	0.91199	966	0.07191	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	501.98	38	chr7	80656694	.	C	G	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=770;ExcessHet=0.0000;FS=3.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.453;SOR=0.261	GT:AD:DP:GQ:PL	0/1:20,18:38:99:516,0,449	20	0	1	0
chr7	82954708	82954708	G	A	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.C6245T:p.P2082L	.	.	429	1092	1	0	0	1	0.000457666	.	.	1940155	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.026	B	0.017	B	.	.	1.000	D	1.7	L	1.25	T	-1.038	T	0.093	T	0.325	-0.017	3.928	3.96	0.774	5.726	12.878	0.193	0.0054576316389	.	.	6.631e-05	0	0	0.0008	0	1.5e-05	0	0	5.17e-05	8	154602	rs761078619	2.052e-05	2.052e-05	2.314e-05	1.788e-05	0.0005	1.456e-05	1.264e-05	0.0004	0.0003	0	0	0	0.0005	0	0.0002	5.397e-06	1.656e-05	1.159e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	6.837e-05	2.861e-05	0	0	0	0	0.0004	0	0	0	0	0	0.187	0.21385	T	0.042	0.50226	D	0.026	0.19406	B	0.017	0.18140	B	.	.	.	.	0.993614	0.41996	D	.	.	.	1.22	0.37052	T	-8.46	0.97233	D	0.28	0.40264	-1.0375	0.18078	T	0.093	0.35417	T	9	0.045669794	0.03664	T	0.005458	0.14045	T	0.193	0.47281	0.158	0.06178	0.158540857583	0.15491	0.33091519017536947	0.33004	0.0368583676945	0.03907	0.452296793461	0.32258	T	.	.	.	-0.435316	0.01378	T	-0.428157	0.30144	T	0.111284765294905	0.13556	T	0.846215	0.52631	T	0.18421218	0.39726	0.2755592	0.53493	0.18421218	0.39725	0.2755592	0.53492	-3.527	0.16812	T	.	.	0.089	0.12323	B	.;.	.;.	2.407311	0.30938	18.59	0.7257752150680179	0.10022	0.98062	0.79276	D	AEFI	0.566541	0.57249	D	-0.261252872649523	0.30657	1.711419	-0.211340972657854	0.31126	1.75874	0.00970230670057715	0.11900	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.77	3.96	0.45097	5.840000	0.69113	4.910000	0.45943	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.1338:0.0:0.8662:0.0	12.878	0.57391	887	0.27948	.;.	.	.	.	.	.	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	1779.98	137	chr7	82954708	.	G	A	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.51;DP=1397;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-1.010e+00;SOR=0.735	GT:AD:DP:GQ:PL	0/1:73,64:137:99:1794,0,1791	20	0	1	0
chr7	86891780	86891780	C	G	exonic	ELAPOR2	.	nonsynonymous SNV	ELAPOR2:NM_001291991:exon20:c.G2254C:p.V752L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.055	B	0.022	B	0.000	D	0.996	D	1.01	L	2.49	T	-1.059	T	0.028	T	0.356	0.745	7.951	3.98	0.904	2.936	9.505	0.029	0.0100318415433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.774e-05	0.0002	3.04e-05	2.506e-05	3.562e-05	2.091e-05	1.841e-05	2.666e-05	2.341e-05	3.034e-05	0	0	0	0	0	3.562e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.04943	T	0.407	0.16717	T	0.001	0.07471	B	0.008	0.13708	B	0.000209	0.47681	D	0.181406	0.995618	0.42773	D	0.695	0.17993	N	2.49	0.18083	T	-0.51	0.17417	N	0.365	0.40963	-1.0591	0.11981	T	0.028	0.12103	T	10	0.08162895	0.13385	T	0.010032	0.26080	T	0.047	0.12962	0.14	0.04369	0.0482279557977	0.04254	0.08786455680831268	0.08719	0.220204035971	0.24559	0.630701303482	0.57245	T	0.011705	0.12752	T	-0.156602	0.27282	T	-0.462725	0.26302	T	0.720050930976868	0.41701	D	0.871013	0.57621	D	0.057398614	0.11417	0.055046372	0.09583	0.057398614	0.11417	0.055046372	0.09582	-3.968	0.31665	T	.	.	0.301	0.53048	B	.;.;.	.;.;.	2.312557	0.29604	18.18	0.83331248727734708	0.14667	0.93747	0.59076	D	AEFBI	0.637744	0.61641	D	-0.268445132885649	0.30373	1.69302	-0.0859509096982364	0.35970	2.087488	0.00307194780848886	0.09909	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.77	3.98	0.45383	2.971000	0.48940	2.236000	0.31572	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.7678:0.0:0.2322	9.505	0.38207	587	0.69154	.;.;.	.	.	.	.	.	Uncertain significance	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	50.54	109	chr7	86891780	.	C	G	50.54	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.732e+00;DP=1232;ExcessHet=0.0000;FS=295.526;InbreedingCoeff=-0.0479;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.32;SOR=8.189	GT:AD:DP:GQ:PL	0/1:77,30:109:64:64,0,1450	19	0	1	1
chr7	90161132	90161132	A	G	exonic	STEAP1	.	nonsynonymous SNV	STEAP1:NM_012449:exon3:c.A412G:p.I138V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.001	B	0.621	N	1.000	N	0.46	N	-2.65	D	-0.742	T	0.395	T	0.105	-1.089	0.153	-1.33	-0.484	0.191	2.076	0.154	0.0149072181665	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs777630691	7.526e-06	7.525e-06	5.446e-06	9.627e-06	0.0002	4.04e-06	2.95e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	8.994e-07	4.969e-05	5.797e-05	6.571e-06	6.567e-06	1.285e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.717	0.03961	T	0.976	0.02447	T	0.0	0.02946	B	0.001	0.04355	B	0.620890	0.10779	N	0.822623	1	0.08975	N	0.835	0.21042	L	-2.65	0.90210	D	-0.18	0.09796	N	0.041	0.01421	-0.7421	0.58344	T	0.395	0.74800	T	10	0.03587365	0.01857	T	0.014907	0.35329	T	0.154	0.40340	0.559	0.67821	0.716271271468	0.71378	0.2836992568020579	0.28282	0.0411607588953	0.04416	0.288178116083	0.08657	T	0.238451	0.60635	T	-0.268689	0.11903	T	-0.421076	0.30951	T	0.0213396880174899	0.00837	T	0.0614939	0.00448	T	0.023287525	0.01056	0.02286821	0.00305	0.023287525	0.01055	0.02286821	0.00305	-4.674	0.33088	T	.	.	0.052	0.00229	B	.	.	-0.178414	0.03203	0.530	0.6940039406608105	0.08960	0.00819	0.03310	N	AEFBI	0.062526	0.12025	N	-1.3983383222498	0.02654	0.1175073	-1.35133713441284	0.03790	0.1775187	7.03782795839353E-5	0.04366	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.17	-1.33	0.08693	0.249000	0.17989	-1.002000	0.06643	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.2713:0.3271:0.2903:0.1114	2.076	0.03405	743	0.52768	Ferric reductase transmembrane component-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	1502.98	145	chr7	90161132	.	A	G	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.570e-01;DP=874;ExcessHet=0.0000;FS=1.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.93;MQRankSum=-1.217e+00;QD=10.37;ReadPosRankSum=-8.210e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/1:83,62:145:99:1517,0,2177	20	0	1	0
chr7	92245667	92245783	GCCCAGCTTCCTGTGGCAGAAAAACCCTCAGTCGCCAAAAGAAAGCCGTCTTGAGGGTTCCCCCGCGCTCCCACCCGCGCCCCAAAAGCTCAGGTCTCTGGAGTCGGAGACCCTCCT	-	splicing	KRIT1	.	.	.	Cavernous malformations of CNS and retina, Autosomal dominant;Cerebral cavernous malformations-1, Autosomal dominant;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	65.4	5	chr7	92245666	.	GGCCCAGCTTCCTGTGGCAGAAAAACCCTCAGTCGCCAAAAGAAAGCCGTCTTGAGGGTTCCCCCGCGCTCCCACCCGCGCCCCAAAAGCTCAGGTCTCTGGAGTCGGAGACCCTCCT	G	65.4	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.674;DP=70;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1151;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	14	0	1	6
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	0/1:128,25:153:25:.:.:25,0,4768	2	0	19	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.254	B	0.323	B	0.000	D	1.000	D	2.2	M	.	.	-0.539	T	0.336	T	0.848	3.986	20.4	4.74	2.629	4.848	17.024	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	359.48	99	chr7	93996297	.	C	G	359.48	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-3.848e+00;DP=2300;ExcessHet=3.5521;FS=355.066;InbreedingCoeff=-0.2345;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=0.909;SOR=13.026	GT:AD:DP:GQ:PL	0/1:58,30:99:70:70,0,931	13	0	8	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|1:55,59:114:99:0|1:100175805_G_C:1280,0,1483:100175805	0	0	21	0
chr7	100314556	100314556	C	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon6:c.C1007T:p.P336L,	.	.	587	933	0	2	0	4	0.00213904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	.	.	.	.	.	.	1.000	N	0.55	N	.	.	-1.008	T	0.052	T	0.188	-0.872	0.499	.	0.151	0.654	.	0.035	.	.	0.00219649	0.0016	0	0.0004	0	0	0.0001	0	0.0101	0.0007244	112	154602	rs185181307	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	6.932e-05	0	0	0	0.0006	2.291e-05	0.0006	0.0058	0.0003	0.0003	0.0001	0.0005	0.0090	0.0002	0.0002	0.0067	0.0059	5.806e-05	0	0	0	0	0	0	0	0	0.0090	0.292	0.14894	T	0.247	0.23914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	-2.2	0.49519	N	0.071	0.04426	-1.0080	0.27541	T	0.052	0.22076	T	4	0.005325198	0.00117	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.010637752304975092	0.01024	1.47686996324	0.86643	.	.	.	0.029378	0.21062	T	-0.531388	0.00377	T	-0.534021	0.18886	T	0.037379401505994	0.03223	T	0.130787	0.01031	T	0.05646106	0.11112	0.12803924	0.30810	0.05646106	0.11112	0.12803924	0.30810	-10.428	0.76432	D	.	.	0.187	0.40344	B	.	.	0.967640	0.13443	9.954	0.25846354168856783	0.01211	0.03055	0.07955	N	AEFI	0.036323	0.04822	N	-0.741398034514801	0.14869	0.7443482	-0.90416226674536	0.11995	0.6145253	1.10530146109008E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.632000	0.24273	-8.038000	0.01039	.	.	0.998000	0.41325	0.000000	0.08366	.	.	.	.	.	266	0.89551	.	.	.	.	.	.	Likely benign	0	0	0	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	0.02632	497.71	60	chr7	100314556	.	C	T	497.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.049e+00;DP=595;ExcessHet=0.0000;FS=5.265;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=38.56;MQRankSum=-3.420e-01;QD=8.30;ReadPosRankSum=0.914;SOR=0.404	GT:AD:DP:GQ:PL	0/1:33,27:60:99:511,0,658	18	0	1	2
chr7	100397887	100397887	C	T	exonic	PILRA	.	nonsynonymous SNV	PILRA:NM_178272:exon3:c.C463T:p.R155W	.	.	429	1080	13	0	0	13	0.00598251	.	.	2326771	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.996	D	0.529	P	0.002	N	1.000	N	0	N	2.18	T	-1.061	T	0.078	T	0.147	0.844	8.409	-1.06	-0.396	-0.259	.	0.080	0.0075073592782	.	.	0.0001	0	0.0002	0	0	0.0002	0.0011	6.057e-05	9.7e-05	15	154602	rs145267648	0.0001	0.0001	9.394e-05	0.0001	0.0016	9.116e-05	8.647e-05	0.0008	0.0006	2.987e-05	0.0002	7.655e-05	0	0.0001	0.0016	8.004e-05	0.0001	0.0003	7.23e-05	7.224e-05	5.139e-05	9.418e-05	0.0001	3.972e-05	3.128e-05	6.805e-05	5.088e-05	0	0	0	0	0	9.416e-05	0	0.0001	0.0005	0	0.012	0.63226	D	0.047	0.60972	D	0.964	0.68779	D	0.19	0.48508	B	0.001824	0.00831	N	4.618180	1	0.08975	N	0	0.06538	N	1.94	0.47130	T	-1.52	0.39503	N	0.309	0.38129	-1.0611	0.11483	T	0.078	0.31103	T	8	0.10436025	0.19236	T	0.007507	0.19926	T	0.080	0.23350	0.326	0.30873	0.674474796302	0.67171	0.14263974150336126	0.14186	0.351789939051	0.37014	0.267911761999	0.05869	T	0.020315	0.16015	T	-0.475711	0.00784	T	-0.610584	0.11938	T	0.95445841550827	0.64269	D	0.488651	0.16810	T	0.07939582	0.18135	0.06556812	0.13308	0.07939582	0.18135	0.06556812	0.13308	-6.732	0.52051	T	.	.	0.116	0.23535	B	.;.;.;.	.;.;.;.	2.111184	0.26865	17.27	0.88563559718445806	0.18076	0.05298	0.11144	N	AEFDGBHCI	0.111057	0.22000	N	-0.885393462336706	0.11190	0.538643	-1.08674837798117	0.07960	0.3893695	0.999998747555319	0.74766	0.495158	0.18159	0	0.378119	0.05977	1	0.535252	0.11790	0	0.584449	0.35598	0	.	.	0.641	-1.06	0.09491	-0.257000	0.08765	-0.289000	0.10208	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	.	.	.	450	0.79359	.;.;.;.	.	.	.	.	.	Uncertain significance	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	313.98	47	chr7	100397887	.	C	T	313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=734;ExcessHet=0.0000;FS=1.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.68;ReadPosRankSum=-3.140e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:33,14:47:99:328,0,740	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	1|2:0,49,49:98:99:0|1:100773851_A_G:4189,1521,1256,1372,0,1106:100773851	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|2:0,49,49:98:99:0|1:100773849_CCAT_C:4192,1372,1084,1524,0,1259:100773849	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|1:502,153,126:781:99:0|1:100952784_C_A:4913,0,20618,1134,15788,21833:100952784	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:801,112,0:913:99:0|1:100952784_C_A:2292,0,33297,4703,33634,38337:100952784	6	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:382,68,120:570:99:0|1:100953098_G_C:3889,2183,18019,0,13185,15679:100953098	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:386,112,41:562:99:3541,0,15871,2981,14486,19066	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:295,39,0:334:99:.:.:726,0,12113,1612,12120,13873	5	0	9	4
chr7	100953365	100953366	TC	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.1586_1587del:p.F529Sfs*38,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.645e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.383e-05	0.0049	3.299e-05	3.471e-05	6.272e-05	1.09e-05	6.33e-06	1.039e-05	3.88e-06	6.272e-05	0	0	0	0	0.0001	0	1.912e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	147.94	574	chr7	100953364	.	TTC	T	147.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=12544;ExcessHet=0.0000;FS=16.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.48;MQRankSum=-9.971e+00;QD=0.26;ReadPosRankSum=-1.424e+00;SOR=3.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:532,42:574:99:0|1:100953296_C_A:162,0,22201:100953296	20	0	1	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	0/1:314,163,0:574:99:.:.:6112,0,12677,7058,13185,20242	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|1:725,108,0:833:99:0|1:100953486_C_A:2332,0,30088,4515,30413,34928:100953486	2	0	17	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:755,79,0:834:99:0|1:100953471_A_C:1000,0,30998,3272,31236,34509:100953471	7	0	10	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:812,97,0:909:99:.:.:1629,0,33804,4073,34096,38169	3	0	15	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:351,0,26:377:35:0|1:100955545_T_A:35,1092,15830,0,14738,14660:100955545	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|2:351,0,26:377:35:0|1:100955545_T_A:35,1092,15830,0,14738,14660:100955545	3	0	14	1
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:335,0,229:564:99:0|1:100960581_ATC_A:8585,9593,23507,0,13914,13224:100960581	0	0	15	0
chr7	100991641	100991641	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G1078A:p.A360T,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	0	N	2.65	T	-0.962	T	0.011	T	0.053	-0.710	0.940	-1.27	-1.224	-2.287	.	0.005	.	.	.	0.0155	0.0050	0.0132	0.0417	0.0175	0.0198	0.0102	0.0125	0.0001921	5	26028	rs199720463	0.0018	0.0023	0.0017	0.0020	0.0041	0.0018	0.0017	0.0034	0.0033	0.0005	0.0028	0.0044	0.0041	0.0014	0.0016	0.0016	0.0024	0.0038	0.0016	0.0017	0.0018	0.0013	0.0030	0.0013	0.0012	0.0024	0.0022	0.0004	0	0.0005	0.0083	0.0015	0.0002	0.0127	0.0030	0.0011	0.0012	1.0	0.00964	T	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.75	0.01730	N	2.65	0.12676	T	0.52	0.03700	N	0.01	0.00095	-0.9620	0.38800	T	0.011	0.04369	T	6	0.002170533	0.00031	T	.	.	.	0.005	0.00259	.	.	.	.	0.001674034491428674	0.00154	.	.	0.567256093025	0.48291	T	0.003048	0.02453	T	-0.432002	0.01441	T	-0.858317	0.00861	T	0.0040173366323953	0.00043	T	0.218978	0.03459	T	0.03216753	0.03190	0.106965356	0.25742	0.03216753	0.03190	0.106965356	0.25742	-0.464	0.00562	T	.	.	0.100	0.17103	B	.;.	.;.	-1.986652	0.00104	0.002	0.25000751861114417	0.01132	0.00075	0.00520	N	AEFDBI	0.028703	0.02578	N	-1.32642038987601	0.03376	0.1506901	-1.49891551144516	0.02354	0.1081183	2.77590875686656E-4	0.06300	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-1.814000	0.01817	-7.422000	0.01160	-2.203000	0.00354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0.0625	3616.07	350	chr7	100991641	.	G	A	3616.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.45;DP=6790;ExcessHet=0.1072;FS=12.192;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=59.04;MQRankSum=-1.110e+01;QD=4.73;ReadPosRankSum=-4.201e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,34:350:99:0|1:100991624_A_T:465,0,13126:100991624	14	0	2	5
chr7	101196010	101196010	T	A	exonic	MOGAT3	.	nonsynonymous SNV	MOGAT3:NM_178176:exon7:c.A962T:p.Q321L,	.	.	430	1058	29	5	0	39	0.0180974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.055	B	0.055	B	0.995	N	1.000	N	1.81	L	-3.31	D	-0.256	T	0.611	D	0.271	1.004	9.100	-0.26	-0.298	1.059	4.117	0.201	.	0.0047	0.00559105	0.0049	0.0014	0.0010	0	0.0011	0.0040	0.0113	0.0167	0.0046895	725	154602	rs139545520	0.0060	0.0060	0.0057	0.0063	0.0172	0.0059	0.0058	0.0164	0.0161	0.0012	0.0012	0.0018	2.519e-05	0.0013	0.0121	0.0060	0.0052	0.0172	0.0036	0.0036	0.0038	0.0034	0.0135	0.0033	0.0032	0.0109	0.0099	0.0012	0	0.0029	0.0023	0.0004	0.0008	0.0034	0.0052	0.0057	0.0135	0.004	0.65419	D	0.02	0.58613	D	0.055	0.22733	B	0.055	0.25995	B	0.994952	0.08005	N	0.997774	1	0.08975	N	.	.	.	-3.31	0.93835	D	-4.07	0.74661	D	0.199	0.21969	-0.2563	0.76189	T	0.611	0.86237	D	10	0.013748169	0.00291	T	.	.	.	0.201	0.48592	.	.	0.612494621148	0.60937	0.4942641162674118	0.49347	0.223459416139	0.24871	0.247193336487	0.03478	T	0.053825	0.29552	T	-0.268907	0.11878	T	-0.146069	0.59590	T	0.0301053931315479	0.02005	T	0.749125	0.37025	T	0.5341683	0.69067	0.54813784	0.73877	0.5341683	0.69068	0.54813784	0.73877	-8.031	0.61281	D	.	.	0.126	0.26576	B	.	.	2.149235	0.27375	17.44	0.92101801896154079	0.21453	0.25130	0.22606	N	AEFDBHI	0.088028	0.17846	N	-0.829934811715854	0.12549	0.6124076	-0.921232911203059	0.11593	0.5915805	0.176825090198372	0.17815	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.96	-0.26	0.12326	1.822000	0.38690	1.107000	0.24123	0.650000	0.52971	0.011000	0.18532	0.627000	0.25846	0.221000	0.22489	0.0:0.3213:0.1812:0.4976	4.117	0.09556	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	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	1283.98	122	chr7	101196010	.	T	A	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.178e+00;DP=834;ExcessHet=0.0000;FS=2.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.488e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1298,0,1927	20	0	1	0
chr7	106016025	106016025	G	A	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon10:c.G1162A:p.A388T	.	.	433	1063	23	3	0	29	0.0134571	0.9152	0.49	2823092	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.926	D	0.077	N	1.000	N	1.45	L	0.75	T	-0.969	T	0.136	T	0.141	2.981	15.94	1.55	0.010	1.044	3.744	0.135	.	0.0035	0.00239617	0.0055	0.0016	0.0097	0.0002	0.0039	0.0072	0.0077	0.0027	0.0007956	123	154602	rs143495908	0.0045	0.0046	0.0045	0.0046	0.0154	0.0044	0.0044	0.0127	0.0117	0.0009	0.0053	0.0137	0.0001	0.0025	0.0154	0.0047	0.0053	0.0027	0.0036	0.0036	0.0037	0.0035	0.0050	0.0033	0.0033	0.0045	0.0043	0.0013	0	0.0041	0.0141	0	0.0022	0.0238	0.0050	0.0057	0.0012	0.211	0.45039	T	0.118	0.49120	T	0.958	0.54977	D	0.435	0.45529	B	0.077385	0.21107	N	0.472179	0.998276	0.22253	N	1.19	0.30124	L	0.75	0.57729	T	-1.49	0.36385	N	0.028	0.00618	-0.9692	0.37366	T	0.136	0.45184	T	10	0.005316615	0.00150	T	0.026727	0.49612	D	0.135	0.36572	.	.	0.475971816791	0.47228	0.1819370270975124	0.18112	0.0859386857115	0.09713	0.282651722431	0.07865	T	0.008252	0.16994	T	-0.497222	0.00593	T	-0.485773	0.23835	T	0.0181521391405292	0.00537	T	0.710029	0.32075	T	0.10516262	0.24863	0.110402614	0.26619	0.10516262	0.24863	0.110402614	0.26619	-4.595	0.32109	T	.	.	0.115	0.23183	B	.;.;.	.;.;.	2.904570	0.38512	20.8	0.99411844601586119	0.63310	0.30236	0.24030	N	ALL	0.093806	0.18976	N	-0.261999021850579	0.30627	1.709508	-0.387061525501196	0.25381	1.395495	0.999999999993862	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	5.46	1.55	0.22356	1.133000	0.31043	3.072000	0.36204	0.676000	0.76740	0.857000	0.30561	1.000000	0.68203	0.054000	0.15518	0.1436:0.3568:0.3776:0.1219	3.744	0.08066	926	0.17793	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	0.02381	1045.98	91	chr7	106016025	.	G	A	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=780;ExcessHet=0.0000;FS=4.126;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.104;SOR=1.218	GT:AD:DP:GQ:PL	0/1:52,39:91:99:1060,0,1252	20	0	1	0
chr7	123662638	123662638	A	G	exonic	LMOD2	.	nonsynonymous SNV	LMOD2:NM_207163:exon2:c.A1052G:p.N351S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.992	D	.	.	1.000	D	2.305	M	-3.49	D	1.007	D	0.898	D	0.38	4.267	22.3	5.27	2.120	9.245	15.485	0.832	0.325888770871	.	.	3.318e-05	0	0.0002	0	0	3.002e-05	0	0	2.59e-05	4	154602	rs759645346	3.284e-05	3.283e-05	2.859e-05	3.713e-05	8.944e-05	2.543e-05	2.249e-05	2.985e-05	2.224e-05	5.974e-05	8.944e-05	3.826e-05	0	0	0	3.418e-05	3.313e-05	1.159e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.999999	0.81001	D	2.98	0.85499	M	-3.49	0.94621	D	-4.84	0.81030	D	0.959	0.96871	1.007	0.97311	D	0.898	0.96615	D	9	0.96263427	0.95693	D	0.325889	0.91611	D	0.832	0.94691	0.829	0.93915	0.865506261627	0.86420	0.8088709864216774	0.80842	0.425612778913	0.42963	0.726429224014	0.70984	T	0.329172	0.69950	T	0.0632809	0.60025	T	0.078824	0.75499	D	0.760379985278219	0.43873	D	0.976202	0.91709	D	0.6451837	0.75107	0.5652977	0.74840	0.6451837	0.75108	0.5652977	0.74841	-12.016	0.84930	D	.	.	0.962	0.88272	P	.	.	4.506239	0.70528	25.5	0.9982310884071407	0.90590	0.97607	0.75865	D	AEBCI	0.904848	0.85564	D	0.674204556669657	0.77942	6.772973	0.595463568776548	0.74613	6.167137	0.999999999987276	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	9.283000	0.95023	11.130000	0.86775	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.485	0.75292	730	0.54327	.	.	.	.	.	.	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	1410.98	120	chr7	123662638	.	A	G	1410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.700;DP=847;ExcessHet=0.0000;FS=2.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.069;SOR=0.467	GT:AD:DP:GQ:PL	0/1:67,53:120:99:1425,0,1793	20	0	1	0
chr7	129212026	129212026	C	T	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon12:c.C1939T:p.P647S,	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	.	404	1112	6	0	0	6	0.00269058	.	.	139314	not_specified|Hamartoma_of_hypothalamus|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0002444,MONDO:MONDO:0009436,MedGen:C0342418,OMIM:241800|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	1.0	D	0.994	D	0.000	D	1.000	D	1.1	L	-1.15	T	-0.327	T	0.405	T	0.6	4.885	28.0	5.38	2.508	6.484	15.859	0.265	.	0.0058	0.00299521	0.0087	0.0017	0.0033	0	0.0031	0.0137	0.0051	0.0025	0.0047671	737	154602	rs34545616	0.0083	0.0082	0.0084	0.0082	0.0098	0.0082	0.0081	0.0097	0.0096	0.0016	0.0034	0.0074	2.569e-05	0.0027	0.0037	0.0098	0.0067	0.0014	0.0058	0.0058	0.0064	0.0051	0.0098	0.0054	0.0053	0.0091	0.0089	0.0014	0.0099	0.0052	0.0052	0	0.0018	0.0068	0.0098	0.0076	0.0023	0.17	0.22833	T	0.248	0.23845	T	1.0	0.90584	D	0.994	0.82059	D	0.000017	0.62929	D	0.156184	1	0.81001	D	0.805	0.20218	L	-1.15	0.77964	T	-0.1	0.08495	N	0.428	0.46742	-0.3265	0.74237	T	0.405	0.75501	T	10	0.0077956915	0.00177	T	.	.	.	0.265	0.57870	.	.	0.876241867845	0.87502	0.4153287257471771	0.41448	0.222575520605	0.24794	0.526910185814	0.42600	T	0.314437	0.68611	T	-0.25567	0.13411	T	-0.132067	0.60797	T	0.00955216371888576	0.00124	T	0.819918	0.47811	T	0.07610213	0.17190	0.11243948	0.27129	0.07610213	0.17190	0.11243948	0.27128	-3.6	0.17857	T	.	.	0.209	0.43572	B	.	.	4.257261	0.64674	24.7	0.99925072312637175	0.99042	0.99562	0.97468	D	AEFDBI	0.763296	0.70044	D	0.595185744312949	0.72872	5.874799	0.62533286920446	0.76784	6.555371	0.999999997304296	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.38	5.38	0.77279	6.666000	0.74289	5.911000	0.51023	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	15.859	0.78789	703	0.57489	.	.	.	.	.	.	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	356.98	40	chr7	129212026	.	C	T	356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=727;ExcessHet=0.0000;FS=2.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=0.968;SOR=1.371	GT:AD:DP:GQ:PL	0/1:24,16:40:99:371,0,609	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	1/2:0,12,12:24:99:981,503,551,478,0,443	5	3	3	0
chr7	140017804	140017804	T	C	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.T1315C:p.F439L	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.415	M	-1.89	D	0.605	D	0.737	D	0.953	3.355	17.30	4.89	1.842	6.933	13.101	0.892	0.114832134165	.	0.000199681	4.127e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs571830700	1.573e-05	1.573e-05	8.168e-06	2.338e-05	0.0002	1.048e-05	8.75e-06	0.0002	0.0001	0	0	0	0	0	0	0	4.968e-05	0.0002	1.314e-05	1.312e-05	0	2.688e-05	0.0004	2.18e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	0.004	0.78490	D	0.02	0.58613	D	0.771	0.43934	P	0.549	0.49194	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.89	0.84557	D	-5.29	0.84315	D	0.934	0.93959	0.605	0.91969	D	0.737	0.90994	D	10	0.88757837	0.88090	D	0.114832	0.79382	D	0.892	0.96910	.	.	0.905594530303	0.90465	0.88944489593546	0.88914	0.598658979422	0.55026	0.665957927704	0.62261	T	0.087833	0.38028	T	0.224389	0.76191	D	0.358842	0.90658	D	0.947826206684113	0.62764	D	0.755524	0.37862	T	.	.	.	.	.	.	.	.	-4.612	0.32322	T	.	.	0.973	0.89808	P	.;.;.;.;.	.;.;.;.;.	4.661117	0.74398	26.2	0.99711063825003965	0.81353	0.92750	0.56454	D	AEFDBCI	0.932810	0.92374	D	0.499561652491867	0.67064	5.032181	0.421879067722663	0.62929	4.517126	0.999999999999899	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.89	4.89	0.63387	7.033000	0.76234	7.875000	0.72177	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:0.0:1.0	13.101	0.58636	934	0.15400	.;.;.;.;.	.	.	.	.	.	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	921.98	78	chr7	140017804	.	T	C	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.830e-01;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.025;SOR=0.619	GT:AD:DP:GQ:PL	0/1:42,36:78:99:936,0,1122	20	0	1	0
chr7	141790419	141790419	G	A	exonic	TAS2R5	.	nonsynonymous SNV	TAS2R5:NM_018980:exon1:c.G58A:p.G20S,	.	.	424	1073	24	1	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	.	.	1.000	N	2.585	M	4.86	T	-1.099	T	0.018	T	0.708	1.959	12.51	3.71	1.140	2.613	9.941	0.135	0.00537984679718	0.0036	0.00299521	0.0047	0.0003	0.0074	0	0.0003	0.0069	0.0077	0.0011	0.0045601	705	154602	rs2234013	0.0035	0.0035	0.0034	0.0036	0.0456	0.0034	0.0034	0.0411	0.0393	0.0015	0.0070	0.0667	0	9.36e-05	0.0456	0.0019	0.0097	0.0011	0.0039	0.0039	0.0039	0.0039	0.0063	0.0036	0.0035	0.0053	0.0049	0.0006	0.0110	0.0063	0.0730	0.0002	9.411e-05	0.0514	0.0025	0.0085	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.44	0.70756	M	4.86	0.01459	T	-5.56	0.86296	D	0.381	0.42247	-1.0987	0.04252	T	0.018	0.07470	T	9	0.0037351847	0.00069	T	0.00538	0.13801	T	0.135	0.36572	.	.	0.215869574891	0.21205	0.49549662385187787	0.49470	0.368469319356	0.38399	0.362397372723	0.19735	T	0.032881	0.22678	T	-0.342783	0.05198	T	-0.257912	0.49033	T	0.0800587087702255	0.09995	T	0.60384	0.22664	T	0.51646477	0.68056	0.7054256	0.82634	0.51646477	0.68057	0.7054256	0.82635	-4.741	0.33896	T	.	.	0.484	0.63830	A	.	.	2.710580	0.35433	19.90	0.99510940079359178	0.68618	0.65890	0.32890	D	AEFDBI	0.076168	0.15316	N	0.0651727899831126	0.44843	2.75108	-0.130487530220542	0.34167	1.962412	0.0376705390487443	0.14309	0.562547	0.31514	0	0.601575	0.49859	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.59	3.71	0.41733	2.955000	0.48814	.	.	-0.837000	0.02821	0.718000	0.28801	0.941000	0.28781	0.019000	0.11356	0.0:0.0:0.7974:0.2026	9.941	0.40752	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1193.98	98	chr7	141790419	.	G	A	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=792;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.114;SOR=0.572	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1208,0,1101	20	0	1	0
chr7	142067426	142067426	G	A	splicing	MGAM	NM_001365693:exon42:c.5004+1G>A	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.477	10.88	3.98	1.756	8.285	14.894	.	.	0.0002	0.000199681	5.232e-05	0	0	0	0	9.572e-05	0	0	5.17e-05	8	154602	rs189725035	3.553e-05	3.845e-05	3.395e-05	3.712e-05	8.978e-05	2.733e-05	2.467e-05	2.951e-05	2.616e-05	8.978e-05	6.836e-05	0	0	0	0	3.941e-05	1.714e-05	1.182e-05	9.02e-05	8.758e-05	9.452e-05	8.564e-05	0.0001	5.323e-05	4.167e-05	7.34e-05	5.502e-05	4.887e-05	0	7.024e-05	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.251983	0.13855	T	-0.411922	0.32003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.454679	0.69278	25.4	0.98467301002139462	0.41814	0.98939	0.88905	D	AEFGI	.	.	.	0.150892340738554	0.48854	3.092604	0.148748581179366	0.47075	2.943306	0.972743419279853	0.29396	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.770247	0.45606	3.98	3.98	0.45383	5.056000	0.64112	.	.	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	14.894	0.70268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	853.98	90	chr7	142067426	.	G	A	853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.919;DP=824;ExcessHet=0.0000;FS=1.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.74;MQRankSum=-4.206e+00;QD=9.49;ReadPosRankSum=0.126;SOR=0.995	GT:AD:DP:GQ:PL	0/1:51,39:90:99:868,0,1205	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,90,0,0:90:99:4011,271,0,4011,271,4011,4011,271,4011,4011	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,90,0,0:90:99:4011,271,0,4011,271,4011,4011,271,4011,4011	0	16	2	0
chr7	143286202	143286202	G	A	exonic	TMEM139	.	nonsynonymous SNV	TMEM139:NM_001282876:exon2:c.G245A:p.R82Q	.	.	425	1082	15	0	0	15	0.00688389	0.9988	0.954	2823279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.95	P	0.211	B	0.010	N	0.744	N	1.01	L	.	.	-1.045	T	0.048	T	0.087	3.205	16.73	3.13	1.233	1.579	7.574	0.095	.	0.0019	0.00159744	0.0024	0.0008	0.0029	0	0.0002	0.0032	0.0099	0.0015	0.0023932	370	154602	rs146790657	0.0025	0.0025	0.0025	0.0026	0.0096	0.0025	0.0024	0.0075	0.0068	0.0005	0.0029	0.0052	2.519e-05	0.0002	0.0096	0.0027	0.0030	0.0019	0.0023	0.0023	0.0026	0.0021	0.0046	0.0021	0.0021	0.0038	0.0035	0.0007	0.0011	0.0046	0.0058	0	0.0002	0.0068	0.0032	0.0028	0.0017	0.15	0.24661	T	0.746	0.04877	T	0.95	0.53885	P	0.211	0.37346	B	0.009681	0.30255	N	0.225311	0.743693	0.29709	N	1.59	0.40313	L	.	.	.	-2.83	0.59710	D	0.35	0.39153	-1.0450	0.15825	T	0.048	0.20592	T	9	0.0071099997	0.00162	T	0.003285	0.07268	T	0.095	0.27398	.	.	0.0920862733494	0.08535	0.21679922710344496	0.21595	0.466230356228	0.46032	0.267926812172	0.05872	T	0.022751	0.17484	T	-0.553863	0.00276	T	-0.570152	0.15436	T	0.0173244588658675	0.00472	T	0.746125	0.36682	T	0.08172079	0.18790	0.113741964	0.27452	0.08172079	0.18790	0.113741964	0.27451	-3.329	0.14113	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	4.935422	0.81403	27.5	0.99885733328785198	0.96126	0.40356	0.26418	N	AEFBCI	0.345561	0.44067	N	0.0359274567454747	0.43496	2.641381	0.0877162844269016	0.43928	2.68462	0.99990493683615	0.45458	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.0	3.13	0.35090	1.734000	0.37790	6.572000	0.55971	0.672000	0.70159	0.972000	0.34453	1.000000	0.68203	0.970000	0.54328	0.215:0.0:0.785:0.0	7.574	0.27093	840	0.37365	.;.;.;.;.	.	.	.	.	.	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	1478.11	47	chr7	143286202	.	G	A	1478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=768;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=1.40;SOR=0.726	GT:AD:DP:GQ:PL	0/1:28,19:47:99:556,0,805	19	0	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	0/1:91,24:115:79:.:.:79,0,2220	3	0	18	0
chr7	150804453	150804453	G	T	exonic	TMEM176A	.	nonsynonymous SNV	TMEM176A:NM_018487:exon6:c.G647T:p.R216I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.879	P	0.421	B	0.519	U	1.000	N	0.695	N	3.1	T	-1.025	T	0.022	T	0.441	3.057	16.21	-1.05	-0.329	-0.362	4.270	0.082	0.0033645665547	7.7e-05	.	2.471e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs376649866	1.368e-05	1.368e-05	1.497e-05	1.238e-05	2.236e-05	8.94e-06	7.26e-06	1.012e-05	8.35e-06	0	2.236e-05	0	0	0	0	1.619e-05	1.656e-05	0	0.0001	0.0001	0.0001	8.068e-05	0.0002	6.511e-05	5.322e-05	9.047e-05	7.012e-05	0	0	0.0001	0	0	0	0	0.0002	0.0014	0	0.007	0.61437	D	0.008	0.67890	D	0.879	0.48338	P	0.421	0.45113	B	0.518941	0.11764	U	0.750870	0.999998	0.08975	N	1.65	0.42232	L	3.1	0.13434	T	-3.63	0.69714	D	0.457	0.49692	-1.0253	0.21985	T	0.022	0.09193	T	10	0.157381	0.29620	T	0.003365	0.07512	T	0.082	0.23913	.	.	0.282575091529	0.27877	0.31037711068989493	0.30950	1.31982225195	0.83423	0.274738222361	0.06769	T	0.087143	0.46281	T	-0.288438	0.09794	T	-0.495732	0.22791	T	0.621955096721649	0.37286	D	0.639136	0.26018	T	0.11724204	0.27642	0.17227694	0.39470	0.11724204	0.27641	0.17227694	0.39469	-5.6	0.42792	T	.	.	0.210	0.44796	B	.;.;.;.;.	.;.;.;.;.	2.256556	0.28829	17.93	0.96613208012984397	0.30452	0.04523	0.10152	N	AEFDBI	0.687464	0.64879	D	-0.599582364153308	0.18957	0.9884389	-0.754522712264416	0.15612	0.8219096	0.966663254111926	0.28920	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.26	-1.05	0.09523	-0.095000	0.11043	0.430000	0.18314	0.676000	0.76740	0.065000	0.21925	0.035000	0.21413	0.624000	0.32000	0.4122:0.1673:0.4204:0.0	4.270	0.10230	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	864.98	76	chr7	150804453	.	G	T	864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.670e-01;DP=856;ExcessHet=0.0000;FS=3.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-2.550e-01;SOR=0.364	GT:AD:DP:GQ:PL	0/1:38,38:76:99:879,0,931	20	0	1	0
chr7	151024399	151024399	C	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon1:c.G25T:p.G9W,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.881	P	0.275	B	0.110	N	.	.	.	.	.	.	-0.953	T	0.074	T	0.24	-0.618	1.253	1.52	0.471	0.530	6.588	0.061	.	.	0.00159744	0.0026	0	0.0017	0	0	0.0021	0	0.0217	0.0006274	97	154602	rs545139907	0.0005	0.0006	0.0004	0.0006	0.0064	0.0005	0.0005	0.0058	0.0055	7.618e-05	0.0007	0.0039	0.0004	2.417e-05	0.0058	0.0002	0.0009	0.0064	0.0007	0.0007	0.0005	0.0009	0.0081	0.0006	0.0005	0.0061	0.0054	0.0002	0	0.0017	0.0026	0	0	0.0171	0.0002	0.0014	0.0081	.	.	.	0.024	0.56640	D	0.881	0.48446	P	0.275	0.40079	B	0.110496	0.19440	N	0.434947	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.44474	-0.9532	0.40416	T	0.074	0.29897	T	7	0.0054236054	0.00119	T	.	.	.	.	.	.	.	0.441324992753	0.43756	0.16623656053761898	0.16543	.	.	0.422532200813	0.28186	T	0.032365	0.22453	T	-0.337211	0.05584	T	-0.252731	0.49547	T	0.107801700220323	0.13194	T	0.49655	0.15423	T	0.044533964	0.07136	0.066472635	0.13623	0.044533964	0.07136	0.066472635	0.13623	-4.823	0.34858	T	.	.	0.174	0.38172	B	.;.	.;.	2.273833	0.29066	18.00	0.6570393647721422	0.07848	0.67269	0.33372	D	AEFDBCI	0.371147	0.45727	N	-0.327890253594571	0.28092	1.54667	-0.391151531960423	0.25259	1.388052	0.999997272871623	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.056003	0.00319	0	0.079188	0.02158	0	.	.	4.36	1.52	0.22158	0.312000	0.19147	1.317000	0.25577	-0.972000	0.01937	0.988000	0.36536	1.000000	0.68203	0.002000	0.04165	0.0:0.6834:0.0:0.3166	6.588	0.21827	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	0.04762	2202.11	118	chr7	151024399	.	C	A	2202.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.597;DP=1086;ExcessHet=0.1072;FS=1.037;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.400;SOR=0.687	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1139,0,1557	19	0	2	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:292,79:371:99:1077,0,10530	4	0	17	0
chr7	152248171	152248171	G	A	exonic	KMT2C	.	stopgain	KMT2C:NM_170606:exon14:c.C2263T:p.Q755X,	.	.	418	977	127	0	0	127	0.0610284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.507	N	1.000	N	.	.	.	.	.	.	.	.	.	6.978	38	2.44	0.630	0.436	1.678	.	.	.	.	0.0416	0.1069	0.0224	0.0563	0.0442	0.0281	0.0509	0.0646	0.0003458	9	26028	rs201234598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507052	0.05125	N	1.373010	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.772	0.76946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207808	0.74625	D	0.0607255	0.74294	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.010711	0.94333	34	0.99557216609082289	0.71521	0.06104	0.12080	N	AEFGBI	0.041531	0.06327	N	0.101422309534251	0.46529	2.891879	-0.202886129060462	0.31431	1.778824	0.384391544153175	0.19989	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.53	2.44	0.28875	0.459000	0.21619	2.861000	0.35203	0.676000	0.76740	0.094000	0.22667	0.999000	0.35428	0.188000	0.21541	0.1392:0.2962:0.2939:0.2707	1.678	0.02655	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.125	797.32	165	chr7	152248171	.	G	A	797.32	.	AC=5;AF=0.125;AN=40;BaseQRankSum=5.98;DP=2497;ExcessHet=1.1607;FS=41.174;InbreedingCoeff=-0.1528;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-6.374e+00;QD=0.93;ReadPosRankSum=0.070;SOR=8.357	GT:AD:DP:GQ:PL	0/1:145,20:165:99:326,0,4164	15	0	5	1
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N,	.	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.999	D	0.991	D	0.001	U	1.000	D	1.04	L	-5.16	D	0.881	D	0.928	D	0.158	0.401	6.180	3.77	1.072	1.789	11.249	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	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	0.09524	518.92	323	chr7	152265205	.	C	G	518.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.361e+00;DP=4176;ExcessHet=0.6776;FS=2.065;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=46.72;MQRankSum=-4.333e+00;QD=0.48;ReadPosRankSum=-1.062e+00;SOR=1.120	GT:AD:DP:GQ:PL	0/1:282,41:323:99:294,0,7608	17	0	4	0
chr7	156736513	156736513	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G860C:p.G287A	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	0.003	U	1.000	N	.	.	1.07	T	-1.035	T	0.036	T	0.039	-1.751	0.010	-1.69	-0.490	-0.887	2.769	0.015	0.00150614267822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.03730	T	0.742	0.04947	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.08975	N	.	.	.	1.07	0.39586	T	0.36	0.03700	N	.	.	-1.0354	0.18731	T	0.036	0.15683	T	9	0.061228067	0.07643	T	0.001506	0.02318	T	0.015	0.02232	.	.	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.375517	0.03324	T	-0.777181	0.02539	T	0.0953895747661591	0.11842	T	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18037	B	.	.	-0.217594	0.03003	0.453	0.096758296991010767	0.00104	0.00485	0.02305	N	AEFBI	0.066300	0.12978	N	-1.38224089824468	0.02805	0.1243675	-1.49979183924639	0.02347	0.1077814	0.10501068513891	0.16491	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	-1.69	0.07747	-0.556000	0.06082	-1.611000	0.05064	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3893:0.2507:0.36	2.769	0.05000	958	0.09170	.	.	.	.	.	.	Uncertain significance	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	0.07692	164.13	183	chr7	156736513	.	C	G	164.13	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-5.160e+00;DP=2584;ExcessHet=0.1072;FS=180.941;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.115;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=3.13;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,28:183:99:0|1:156736513_C_G:101,0,5806:156736513	11	0	2	8
chr7	156736514	156736514	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G859C:p.G287R	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.186	B	0.026	B	0.003	U	1.000	N	.	.	1.02	T	-1.053	T	0.048	T	0.041	-0.672	1.062	1.83	1.336	-0.338	7.135	0.076	0.00190122551669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.06957	T	0.523	0.10354	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.18612	N	.	.	.	1.02	0.40749	T	0.3	0.04091	N	.	.	-1.0527	0.13655	T	0.048	0.20513	T	9	0.08910519	0.15404	T	0.001901	0.03351	T	0.076	0.22200	.	.	0.176091768786	0.17195	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.367071	0.03744	T	-0.765049	0.02935	T	0.105643652379513	0.12966	T	0.478452	0.14421	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24934	B	.	.	-0.091437	0.03692	0.750	0.086422518250517763	0.00072	0.00911	0.03557	N	AEFBI	0.070950	0.14104	N	-0.8756185293714	0.11424	0.5512518	-0.979727185268035	0.10241	0.5145251	0.249579810517596	0.18665	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	1.83	0.24279	-0.561000	0.06048	-0.394000	0.09455	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	7.135	0.24702	958	0.09170	.	.	.	.	.	.	Uncertain significance	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	86.98	183	chr7	156736514	.	C	G	86.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.657e+00;DP=996;ExcessHet=0.0000;FS=82.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=3.21;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,28:183:99:0|1:156736513_C_G:101,0,5806:156736513	20	0	1	0
chr7	158656399	158656399	T	C	exonic	NCAPG2	.	nonsynonymous SNV	NCAPG2:NM_001281933:exon19:c.A2249G:p.H750R	.	.	432	1081	8	1	0	10	0.00460405	.	.	215360	NCAPG2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.003	B	0.01	B	0.067	N	0.684	N	1.04	L	1.09	T	-1.034	T	0.070	T	0.192	1.056	9.313	3.57	0.507	3.428	10.144	0.019	0.0120473657947	0.0004	0.000599042	0.0005	0	0.0006	0	0.0002	0.0006	0.0033	0.0001	0.0004657	72	154602	rs199564693	0.0004	0.0004	0.0004	0.0005	0.0127	0.0004	0.0004	0.0103	0.0095	0.0002	0.0007	0.0065	5.038e-05	3.745e-05	0.0127	0.0003	0.0013	8.115e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0015	0.0013	0.0001	0	0.0020	0.0058	0	0	0.0102	0.0004	0.0028	0	0.244	0.21144	T	0.178	0.29639	T	0.0	0.07471	B	0.004	0.10090	B	0.066772	0.21787	N	0.561687	0.683712	0.30255	N	1.085	0.27262	L	1.09	0.39223	T	-1.04	0.27259	N	0.092	0.07535	-1.0342	0.19109	T	0.070	0.28412	T	10	0.0045380592	0.00094	T	0.012047	0.30270	T	0.034	0.08419	.	.	0.319921171382	0.31595	0.08520765604516878	0.08454	0.467273448873	0.46111	0.309543669224	0.11838	T	0.090764	0.38655	T	-0.436147	0.01363	T	-0.505691	0.21759	T	0.00785582124274075	0.00092	T	0.583442	0.21195	T	0.044714343	0.07196	0.053701323	0.09097	0.044714343	0.07196	0.053701323	0.09096	-1.425	0.01629	T	.	.	0.062	0.01534	B	.;.;.	.;.;.	1.770313	0.22515	15.65	0.80353623130609353	0.13163	0.92165	0.55089	D	ALL	0.382356	0.46427	N	-0.216606240125564	0.32452	1.830328	-0.241031360814047	0.30081	1.690703	0.999999999997003	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.91	3.57	0.40014	3.418000	0.52478	0.440000	0.18415	0.663000	0.56723	1.000000	0.71638	0.193000	0.23512	0.291000	0.24285	0.0:0.1335:0.0:0.8665	10.144	0.41926	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1609.98	129	chr7	158656399	.	T	C	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.230e-01;DP=825;ExcessHet=0.0000;FS=2.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-2.920e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1624,0,1661	20	0	1	0
chr8	2085363	2085363	G	C	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon14:c.G1617C:p.K539N,	.	.	436	1067	18	1	0	20	0.00928505	.	.	3216596	MYOM2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.171	B	0.274	B	0.006	N	1.000	D	0.11	N	0.63	T	-1.010	T	0.086	T	0.122	1.605	11.32	3.95	1.429	1.340	9.066	0.080	0.0241659818376	0.0022	0.00179712	0.0028	0.0002	0.0020	0	0.0019	0.0036	0.0034	0.0035	0.0027037	418	154602	rs137923713	0.0029	0.0029	0.0029	0.0029	0.0132	0.0029	0.0028	0.0108	0.0099	0.0007	0.0024	3.826e-05	0	0.0030	0.0132	0.0031	0.0033	0.0037	0.0025	0.0025	0.0024	0.0025	0.0037	0.0023	0.0022	0.0031	0.0030	0.0006	0.0088	0.0027	0.0003	0.0004	0.0029	0.0136	0.0035	0.0043	0.0037	0.032	0.44694	D	0.112	0.37037	T	.	.	.	.	.	.	0.005828	0.32475	N	0.294315	0.968646	0.81001	D	.	.	.	0.63	0.53088	T	-1.33	0.33197	N	0.584	0.60495	-1.0105	0.26760	T	0.086	0.33298	T	10	0.012243539	0.00264	T	0.024166	0.47155	T	0.080	0.23350	0.474	0.55020	0.712770418609	0.71025	0.5107287513007086	0.50994	0.0278151165772	0.02851	0.432543307543	0.29556	T	.	.	.	-0.535084	0.00358	T	-0.54286	0.18016	T	0.0275743834854516	0.01626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.65252	A	.	.	2.325149	0.29777	18.23	0.99417749304955194	0.63597	0.89452	0.49926	D	AEFDBI	0.426587	0.49088	N	-0.279700014692529	0.29933	1.66441	-0.15768430371848	0.33113	1.890835	0.969717760086207	0.29150	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.285000	0.32866	3.765000	0.39732	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.2764:0.0:0.7236:0.0	9.066	0.35628	929	0.16858	.	.	.	.	.	.	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	1869.98	173	chr8	2085363	.	G	C	1869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=968;ExcessHet=0.0000;FS=1.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-3.630e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/1:89,84:173:99:1884,0,2010	20	0	1	0
chr8	7333519	7333519	G	A	exonic	USP17L1;USP17L3	.	stopgain	USP17L3:NM_001256871:exon1:c.G1133A:p.W378X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.955e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs750086487	1.575e-05	1.725e-05	4.293e-06	2.721e-05	0.0002	1.031e-05	8.8e-06	0.0002	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	4.496e-05	4.199e-05	5.861e-05	3.067e-05	0.0002	1.914e-05	1.26e-05	0.0001	6.893e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.692153	0.00041	T	-0.934447	0.00315	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.003073	0.59000	24.0	0.71048944212780185	0.09498	0.00324	0.01698	N	AEFI	.	.	.	.	.	.	.	.	.	3.44833968794639E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.472	-0.943	0.09866	-0.438000	0.06975	-2.590000	0.03574	-0.689000	0.04143	0.021000	0.19753	0.000000	0.08366	0.004000	0.06068	.	.	.	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	3010.08	94	chr8	7333519	.	G	A	3010.08	.	AC=2;AF=0.048;AN=42;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=46.34;QD=32.02;SOR=0.976	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3038,282,0	20	1	0	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:53,0,34:87:99:1269,1516,4298,0,2299,2106	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	0/2:53,0,34:87:99:1269,1516,4298,0,2299,2106	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|1:144,74:218:99:0|1:10609943_C_T:1580,0,5020:10609943	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,74,0:217:99:0|1:10609943_C_T:1584,0,4931,2006,5144,7150:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,74,0:217:99:0|1:10609943_C_T:1584,0,4931,2006,5144,7150:10609943	0	0	15	4
chr8	12132477	12132477	G	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.C1533A:p.S511R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.983e-06	6.815e-06	0	1.439e-05	.	0	0	.	.	0	0	0	0	0	0	0.0037	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.625	0.02162	N	.	.	.	.	.	.	0.008	0.00068	.	.	.	.	.	.	.	0.047372073	0.04046	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.010131033320863203	0.00975	.	.	.	.	.	0.002036	0.01442	T	-0.187538	0.22619	T	-0.507162	0.21608	T	.	.	.	0.355564	0.08068	T	0.11543607	0.27239	0.17870107	0.40556	0.11543607	0.27239	0.17870107	0.40555	-3.872	0.21884	T	.	.	0.067	0.02548	B	.	.	-0.194523	0.03119	0.497	0.36041249771526462	0.02296	0.00043	0.00351	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00225409001432214	0.09270	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0480595	0.07371	.	.	.	-0.856000	0.04398	-7.260000	0.01195	-0.509000	0.05002	0.013000	0.18845	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	5082.65	400	chr8	12132477	.	G	C,T	5082.65	.	AC=1,2;AF=0.026,0.053;AN=38;BaseQRankSum=2.69;DP=2032;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=0.6381;MLEAC=1,2;MLEAF=0.026,0.053;MQ=58.65;MQRankSum=-1.345e+01;QD=9.72;ReadPosRankSum=-7.390e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/1:326,74,0:400:99:1308,0,9070,2287,9292,11579	17	0	1	2
chr8	12186441	12186441	C	0	exonic	FAM86B1	.	.	.	.	.	506	833	66	2	115	185	0.0403226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1276.77	130	chr8	12186441	.	C	G,*	1276.77	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-6.950e-01;DP=1097;ExcessHet=1.1607;FS=1.769;InbreedingCoeff=-0.1451;MLEAC=3,2;MLEAF=0.071,0.048;MQ=38.36;MQRankSum=-2.685e+00;QD=2.30;ReadPosRankSum=-9.370e-01;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,23,0:130:99:0|1:12186399_A_G:574,0,4165,896,4234,5130:12186399	16	0	3	0
chr8	17972531	17972531	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon22:c.A3787G:p.S1263G	.	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.994	D	0.000	D	1.000	D	1.67	L	0.23	T	-0.352	T	0.333	T	0.558	4.057	20.8	4.81	2.104	9.084	15.071	0.325	0.064991494881	.	.	3.316e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs759425199	9.579e-06	9.577e-06	5.446e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	7.998e-05	6.236e-05	0	0	0	0	0	0.0002	8.994e-07	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.005	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.23	0.59717	T	-2.35	0.51968	N	0.799	0.79503	-0.3517	0.73504	T	0.333	0.70010	T	10	0.5261908	0.62922	D	0.064991	0.69445	D	0.325	0.64725	0.119	0.02647	0.829995710165	0.82838	0.1977790323496197	0.19694	.	.	0.484129816294	0.36625	T	.	.	.	-0.147449	0.28710	T	-0.157428	0.58582	T	0.478035849030201	0.31826	T	0.962404	0.85901	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.459	0.62670	A	.;.;.;.	.;.;.;.	4.686440	0.75048	26.3	0.99622611015036455	0.75533	0.99835	0.99758	D	AEFBI	0.904152	0.85410	D	0.658520340109997	0.76922	6.576421	0.635443493879399	0.77531	6.697336	0.999995284238706	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	9.048000	0.93289	11.294000	0.92114	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.071	0.71702	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	0	0	0	0	0.02381	1510.98	111	chr8	17972531	.	A	G	1510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.137;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.515;SOR=0.687	GT:AD:DP:GQ:PL	0/1:48,63:111:99:1525,0,1149	20	0	1	0
chr8	22353100	22353100	G	C	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon21:c.G2545C:p.V849L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.767	P	0.444	B	0.000	D	0.999	D	1.68	L	1.48	T	-1.018	T	0.105	T	0.402	3.473	17.78	5.48	2.575	5.572	18.123	0.151	0.0102667385741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.099	0.38891	T	0.767	0.43786	P	0.444	0.45865	B	0.000002	0.62929	D	0.057507	0.998915	0.45677	D	1.225	0.30651	L	1.48	0.31731	T	-1.63	0.39119	N	0.488	0.52829	-1.0175	0.24528	T	0.105	0.38513	T	10	0.4995092	0.61464	T	0.010267	0.26610	T	0.151	0.39764	0.69	0.82748	0.428169733428	0.42434	0.6322315523428895	0.63157	0.18827095744	0.21156	0.623541593552	0.56229	T	0.128665	0.45646	T	-0.109196	0.34900	T	-0.394629	0.34011	T	0.93945175409317	0.61093	D	0.941006	0.80130	D	0.2834384	0.51376	0.298382	0.55871	0.2834384	0.51376	0.298382	0.55870	-7.304	0.59313	T	.	.	0.531	0.70474	A	.;.;.;.	.;.;.;.	4.212012	0.63645	24.6	0.99629302583566037	0.75959	0.71455	0.35020	D	AEFGBHCI	0.786506	0.71657	D	0.427090335380195	0.62916	4.515727	0.511172329529918	0.68741	5.262071	1.0	0.98316	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.478617	0.07155	0	.	.	5.48	5.48	0.80675	5.826000	0.68980	11.676000	0.94162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.123	0.89508	589	0.68969	Piwi domain|Piwi domain|Piwi domain;.;Piwi domain|Piwi domain|Piwi 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	1807.98	146	chr8	22353100	.	G	C	1807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=1.23;SOR=0.646	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1822,0,1854	20	0	1	0
chr8	27605077	27605077	C	T	exonic	CLU	.	nonsynonymous SNV	CLU:NM_001831:exon5:c.G676A:p.V226I,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.886	P	0.195	B	0.559	N	1.000	N	1.355	L	1.87	T	-1.030	T	0.051	T	0.136	1.650	11.48	3.58	0.999	0.232	8.972	0.037	0.0122683684811	.	.	4.118e-05	0	8.642e-05	0	0	1.498e-05	0	0.0002	3.23e-05	5	154602	rs774962493	4.994e-05	4.994e-05	3.539e-05	6.463e-05	0.0004	4.059e-05	3.734e-05	0.0003	0.0002	5.974e-05	6.708e-05	0	2.519e-05	0	0.0002	2.878e-05	4.967e-05	0.0004	5.263e-05	5.255e-05	5.144e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	4.747e-05	3.059e-05	0.0001	0	0	0	0	0	0	2.941e-05	0	0.0002	0.113	0.28772	T	0.426	0.13872	T	0.469	0.36524	P	0.058	0.26451	B	0.558908	0.05413	N	1.227870	1	0.08975	N	1.5	0.37844	L	1.87	0.24085	T	-0.58	0.17624	N	0.037	0.01135	-1.0297	0.20551	T	0.051	0.21689	T	10	0.08325186	0.13827	T	0.012268	0.30692	T	0.053	0.14996	0.579	0.70476	0.0716867268079	0.06686	0.3601915143271226	0.35933	0.400431984246	0.41042	0.281844645739	0.07751	T	0.103064	0.41138	T	-0.477494	0.00765	T	-0.627471	0.10607	T	0.0430267676711082	0.04242	T	0.522448	0.17034	T	0.022037953	0.00840	0.040703714	0.04459	0.022037953	0.00840	0.040703714	0.04459	-4.278	0.27867	T	.	.	0.124	0.26010	B	.;.;.;.	.;.;.;.	0.965860	0.13426	9.934	0.94963781412990667	0.25884	0.06352	0.12351	N	AEFDBI	0.376975	0.46092	N	-0.746365396702998	0.14732	0.7363638	-0.80630097810998	0.14343	0.748941	0.999327337879764	0.39149	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	3.58	0.40133	0.199000	0.17037	0.745000	0.21191	-0.171000	0.11205	0.001000	0.13787	0.179000	0.23406	0.138000	0.19872	0.0:0.8942:0.0:0.1058	8.972	0.35072	600	0.68026	Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2076.98	160	chr8	27605077	.	C	T	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=946;ExcessHet=0.0000;FS=3.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.727;SOR=0.447	GT:AD:DP:GQ:PL	0/1:82,78:160:99:2091,0,1965	20	0	1	0
chr8	39011688	39011688	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon3:c.G226A:p.E76K,	Cone-rod dystrophy 9	.	3	1467	49	3	0	55	0.0184008	.	.	193527	not_specified|not_provided|Cone-rod_dystrophy_9	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.97	T	0.084	B	0.097	B	0.003	N	0.633	N	0.28	N	3.24	T	-0.951	T	0.008	T	0.218	0.349	5.892	1.19	0.469	1.084	6.302	0.059	.	0.0041	0.00399361	0.0064	0.0008	0.0042	0.0001	0.0005	0.0055	0.0066	0.0206	0.0059249	916	154602	rs61753672	0.0058	0.0059	0.0053	0.0063	0.0204	0.0056	0.0056	0.0196	0.0193	0.0007	0.0046	0.0214	2.523e-05	0.0007	0.0134	0.0047	0.0079	0.0204	0.0049	0.0049	0.0046	0.0051	0.0190	0.0046	0.0044	0.0159	0.0147	0.0013	0	0.0056	0.0282	0.0002	0.0008	0.0136	0.0055	0.0085	0.0190	0.43	0.13479	T	0.283	0.21478	T	0.046	0.24799	B	0.042	0.30390	B	0.002571	0.36316	N	0.322851	0.701829	0.30683	N	0.69	0.16971	N	3.24	0.06845	T	-0.8	0.22078	N	0.298	0.33687	-0.9505	0.40885	T	0.008	0.02638	T	10	0.0056779087	0.00126	T	.	.	.	0.059	0.16972	.	.	0.335408717102	0.33150	0.5952498386516747	0.59454	0.445410381898	0.44433	0.383827090263	0.22798	T	0.00501	0.26742	T	-0.596119	0.00154	T	-0.614123	0.11652	T	0.00231834998494195	0.00024	T	0.826617	0.52285	T	0.05485932	0.10582	0.05220143	0.08554	0.06884481	0.15033	0.06662778	0.13673	-3.492	0.16320	T	0.1193214732773478	0.11103	0.129	0.27523	B	.;.;.	.;.;.	2.015665	0.25613	16.83	0.82309923148698827	0.14126	0.67078	0.33303	D	AEFGBI	0.067283	0.13219	N	-0.616600102492996	0.18444	0.9576911	-0.446834104372004	0.23638	1.290172	0.999875220121655	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.73	1.19	0.20120	0.969000	0.28967	2.921000	0.35563	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.894000	0.43146	0.1356:0.3548:0.5096:0.0	6.302	0.20327	665	0.61472	Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	3313.11	172	chr8	39011688	.	G	A	3313.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.39;DP=979;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-2.360e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/1:91,81:172:99:1971,0,2162	19	0	2	0
chr8	42463062	42463062	C	A	exonic	SLC20A2	.	nonsynonymous SNV	SLC20A2:NM_001257180:exon4:c.G459T:p.L153F	Basal ganglia calcification, idiopathic, 1, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	1.855	L	-2.96	D	0.514	D	0.796	D	0.889	3.664	18.62	2.92	0.321	0.374	6.802	0.757	0.368044975937	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334799490	2.07e-06	4.104e-06	2.746e-06	1.387e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.808e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.41	0.69639	M	-2.96	0.91956	D	-3.54	0.68651	D	0.811	0.85343	0.514	0.90737	D	0.796	0.93082	D	10	0.8844991	0.87772	D	0.368045	0.92677	D	0.757	0.91710	0.688	0.82558	0.709946821838	0.70741	0.8641147581064089	0.86375	1.64641629461	0.89472	0.733646273613	0.72039	T	0.787172	0.94435	D	0.381854	0.88827	D	0.31073	0.88686	D	0.959094285964966	0.65443	D	0.931507	0.74506	D	0.6127867	0.73377	0.56094086	0.74596	0.6127867	0.73378	0.56094086	0.74597	-7.108	0.54818	T	0.5709004921194298	0.63809	0.547	0.66889	A	.;.;.	.;.;.	3.837961	0.55523	23.6	0.99891145262850212	0.96513	0.81952	0.41257	D	AEFBI	0.148567	0.27249	N	0.374312138011704	0.60032	4.188064	0.320000322000929	0.56717	3.835392	0.880181847434527	0.25602	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.78	2.92	0.32998	0.400000	0.20657	1.508000	0.27004	0.594000	0.32500	0.994000	0.38300	1.000000	0.68203	0.994000	0.71098	0.1429:0.702:0.0:0.1551	6.802	0.22938	740	0.53092	.;.;.	.	.	.	.	.	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	453.98	55	chr8	42463062	.	C	A	453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.596;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-1.118e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/1:34,21:55:99:468,0,844	20	0	1	0
chr8	48043139	48043139	G	A	exonic	UBE2V2	.	nonsynonymous SNV	UBE2V2:NM_003350:exon2:c.G123A:p.M41I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.003	B	0.000	D	1.000	D	0.57	N	1.42	T	-1.096	T	0.059	T	0.815	1.921	12.38	4.89	1.438	9.698	14.715	0.292	0.00579930350009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.07378	T	0.915	0.08930	T	0.0	0.02946	B	0.003	0.08700	B	0.000000	0.84330	D	0.033973	0.999954	0.81001	D	1.22	0.30592	L	1.23	0.36872	T	-3.55	0.68764	D	0.682	0.83576	-1.0959	0.04625	T	0.059	0.24797	T	10	0.4142127	0.61810	T	0.005799	0.15072	T	0.349	0.67049	0.477	0.55502	0.592110308708	0.58887	0.6457749516065192	0.64512	0.766433794634	0.64532	0.873921513557	0.93123	D	0.163586	0.50870	T	0.111	0.65477	D	-0.0780449	0.65047	T	0.881923615932465	0.53201	D	0.938506	0.76886	D	0.60342664	0.72875	0.6403629	0.78990	0.60342664	0.72876	0.6403629	0.78991	-5.857	0.45067	T	.	.	0.777	0.76259	P	.;.;.;.	.;.;.;.	4.844440	0.79118	27.0	0.96941664290118257	0.31699	0.98783	0.86796	D	AEFBI	0.930459	0.91779	D	-0.0444632869917207	0.39850	2.356804	0.179115515771915	0.48703	3.082758	0.999999984349087	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.76	4.89	0.63387	9.893000	0.98592	11.680000	0.94210	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0696:0.0:0.9304:0.0	14.715	0.68874	531	0.73574	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	57.49	84	chr8	48043139	.	G	A	57.49	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.560e-01;DP=1071;ExcessHet=0.1072;FS=90.572;InbreedingCoeff=-0.0781;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.759;SOR=7.111	GT:AD:DP:GQ:PL	0/1:68,16:84:46:46,0,1113	18	0	2	1
chr8	58815669	58815669	G	A	exonic	TOX	.	nonsynonymous SNV	TOX:NM_014729:exon7:c.C1061T:p.S354L,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	B	0.017	B	0.088	N	1.000	D	0	N	2.65	T	-0.954	T	0.022	T	0.479	3.637	18.50	6.07	2.884	8.822	20.644	0.167	0.0113890407399	7.7e-05	0.000199681	4.142e-05	0	0	0.0002	0.0002	3.006e-05	0	0	3.88e-05	6	154602	rs200969018	7.046e-05	7.046e-05	7.896e-05	6.188e-05	0.0001	5.914e-05	5.523e-05	6.696e-05	6.197e-05	5.974e-05	2.236e-05	0	0.0001	0	0	8.094e-05	3.312e-05	4.638e-05	5.255e-05	5.25e-05	5.141e-05	5.373e-05	0.0004	2.556e-05	1.83e-05	6.823e-05	2.855e-05	7.221e-05	0	6.54e-05	0	0.0004	0	0	1.47e-05	0.0005	0	0.006	0.61437	D	0.008	0.67890	D	0.196	0.29532	B	0.017	0.18140	B	0.088227	0.20491	N	0.513748	0.99999	0.58761	D	0.69	0.16971	N	2.65	0.12676	T	-1.95	0.45222	N	0.487	0.52119	-0.9544	0.40203	T	0.022	0.09147	T	9	0.1412982	0.26849	T	0.011389	0.28966	T	0.167	0.42761	.	.	0.102598925029	0.09809	0.46997513749895925	0.46916	0.266766069484	0.29218	0.55779260397	0.46955	T	0.34512	0.71354	T	-0.286396	0.10000	T	-0.357015	0.38398	T	0.151521981886854	0.17224	T	0.906009	0.66877	D	0.08548093	0.19830	0.11386646	0.27483	0.08548093	0.19830	0.11386646	0.27483	-5.837	0.44896	T	.	.	0.141	0.30997	B	.	.	4.422469	0.68507	25.2	0.99860263632034008	0.93911	0.98919	0.88625	D	AEFBI	0.874601	0.79756	D	-0.0070301381627737	0.41537	2.486233	0.193199914345373	0.49473	3.150094	0.999999999999883	0.74766	0.732398	0.92422	0	0.693144	0.66847	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.07	6.07	0.98675	8.949000	0.92922	9.993000	0.82996	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	20.644	0.99572	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1843.98	143	chr8	58815669	.	G	A	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=846;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-8.900e-02;SOR=0.431	GT:AD:DP:GQ:PL	0/1:72,71:143:99:1858,0,1893	20	0	1	0
chr8	64581466	64581466	-	GCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.676_677insGCA:p.S234_K235insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	1/1:3,42,0:45:5:1677,5,0,1687,126,1808	14	1	5	0
chr8	64581464	64581466	GCA	-	exonic	BHLHE22	.	nonframeshift deletion	BHLHE22:NM_152414:exon1:c.674_676del:p.S234del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196	.	0.0185	0.0275	0.0401	0.0357	0.0021	0.0202	0.0070	0.0168	0.0001537	4	26028	rs779312881	0.0007	0.0059	0.0007	0.0008	0.0023	0.0007	0.0007	0.0020	0.0019	0.0014	0.0011	0.0004	0.0014	0.0013	0.0010	0.0005	0.0008	0.0023	0.0005	0.0006	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0005	0.0004	0	0.0011	0	0	0.0006	0.0040	0.0004	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	1/1:3,42,0:45:5:1677,5,0,1687,126,1808	14	1	5	0
chr8	68446397	68446397	A	G	exonic	C8orf34	.	nonsynonymous SNV	C8orf34:NM_001195639:exon3:c.A544G:p.K182E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.994	D	0.000	D	1.000	D	1.95	M	0.64	T	-0.520	T	0.319	T	0.818	4.791	27.0	6.02	2.311	8.839	16.545	0.351	0.0336338411932	.	0.000199681	0.0003	0	8.682e-05	0	0	0	0	0.0022	0.0002458	38	154602	rs533895950	0.0002	0.0002	8.855e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	2.244e-05	0	0	0	0.0002	2.699e-06	0.0002	0.0026	9.846e-05	9.841e-05	2.569e-05	0.0002	0.0031	6.001e-05	4.875e-05	0.0019	0.0016	0	0	0	0	0	0	0	0	0	0.0031	0.019	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999529	0.47407	D	2.095	0.58118	M	0.61	0.56446	T	-2.4	0.57275	N	0.82	0.86833	-0.5205	0.67896	T	0.319	0.68796	T	9	0.047130316	0.03991	T	0.033634	0.55122	D	0.351	0.67234	0.386	0.40624	0.78560403847	0.78361	0.4575838642916333	0.45676	0.779756660727	0.65227	.	.	.	.	.	.	-0.135528	0.30606	T	0.0260708	0.72022	D	0.136835414803062	0.15999	T	0.931907	0.74605	D	0.514056	0.67916	0.53757095	0.73276	0.514056	0.67917	0.53757095	0.73277	-3.188	0.22348	T	.	.	0.942	0.86069	P	.;.;.;.	.;.;.;.	4.521270	0.70897	25.6	0.99833093843937215	0.91456	0.98696	0.85696	D	AEI	0.932158	0.92207	D	0.792866377145968	0.85658	8.642006	0.805935591708384	0.90203	10.30158	0.99991716514479	0.45857	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	8.825000	0.91654	11.147000	0.87239	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.545	0.84275	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	1221.98	104	chr8	68446397	.	A	G	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=784;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-8.490e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1236,0,1264	20	0	1	0
chr8	69586404	69586404	C	G	exonic	SULF1	.	nonsynonymous SNV	SULF1:NM_001128204:exon6:c.C460G:p.P154A	.	.	431	1087	3	0	1	4	0.00137804	.	.	1476675	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.066	B	0.298	B	0.000	D	1.000	D	1.875	L	-3.96	D	0.769	D	0.887	D	0.793	4.023	20.6	5.65	2.661	7.766	19.717	0.761	0.221349911157	0.0005	.	0.0005	0.0002	8.696e-05	0	0.0002	0.0007	0.0011	0.0007	0.0004916	76	154602	rs147245253	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0010	0.0010	0.0003	0	0	0	0.0001	0.0002	0.0011	0.0018	0.0012	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0003	0	0	0	0	9.43e-05	0.0034	0.0011	0.0005	0.0010	0.017	0.51248	D	0.016	0.69154	D	0.066	0.23586	B	0.298	0.40966	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.01	0.54746	M	-3.96	0.96208	D	-6.95	0.94814	D	0.694	0.79214	0.769	0.94026	D	0.887	0.96255	D	10	0.5578514	0.64619	D	0.22135	0.87802	D	0.761	0.91879	.	.	0.680840238837	0.67812	0.9143443446616709	0.91409	0.6537391267	0.58494	0.743666768074	0.73512	T	0.830888	0.95961	D	0.073703	0.61294	D	0.282652	0.87266	D	0.148481434688623	0.16982	T	0.949805	0.80758	D	0.5311336	0.68895	0.50384265	0.71320	0.5311336	0.68896	0.50384265	0.71320	-8.893	0.67005	D	.	.	0.137	0.32589	B	.;.;.;.;.	.;.;.;.;.	4.070729	0.60485	24.2	0.98867781839241164	0.47580	0.99683	0.98635	D	AEFBI	0.909688	0.86663	D	0.355533907460619	0.59034	4.079478	0.496096291270342	0.67732	5.123426	0.999999999999357	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.687403	0.62504	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.879000	0.85694	7.699000	0.66186	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.717	0.96119	908	0.22609	Sulfatase, N-terminal;Sulfatase, N-terminal;Sulfatase, N-terminal;Sulfatase, 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	310.98	46	chr8	69586404	.	C	G	310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.424e+00;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.76;ReadPosRankSum=-3.940e-01;SOR=0.562	GT:AD:DP:GQ:PL	0/1:28,18:46:99:325,0,706	20	0	1	0
chr8	73093040	73093040	C	G	exonic	SBSPON	.	nonsynonymous SNV	SBSPON:NM_153225:exon1:c.G28C:p.A10P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.946	P	0.484	P	0.910	N	0.995	N	1.1	L	2.22	T	-1.037	T	0.047	T	0.573	3.189	16.67	3.78	2.107	1.489	13.028	0.119	0.0949513530143	.	0.000599042	0.0034	0	0	0	0	0	0	0.0048	7.12e-05	11	154602	rs550192636	5.947e-05	6.088e-05	3.184e-05	8.842e-05	0.0013	4.833e-05	4.446e-05	0.0010	0.0009	0	0	0	0	0	0	9.954e-07	0.0001	0.0013	7.243e-05	7.221e-05	5.153e-05	9.427e-05	0.0023	3.979e-05	3.133e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.251	0.17069	T	0.104	0.38160	T	0.946	0.53363	P	0.484	0.47189	P	0.910361	0.07411	N	1.044290	0.995093	0.23373	N	1.32	0.33002	L	2.22	0.18248	T	-1.22	0.30964	N	0.61	0.62696	-1.0366	0.18357	T	0.047	0.20077	T	10	0.010487258	0.00233	T	0.094951	0.76342	D	0.119	0.33137	0.416	0.45544	0.0986583533028	0.09354	0.7288561395940019	0.72829	0.666257477821	0.59183	0.817527651787	0.84649	D	0.005188	0.04636	T	-0.451907	0.01101	T	-0.425588	0.30436	T	0.169881426082105	0.18572	T	0.463454	0.13490	T	0.4322123	0.62897	0.52936214	0.72807	0.4322123	0.62897	0.52936214	0.72807	-8.714	0.65837	D	.	.	0.173	0.37914	B	.	.	2.987181	0.39869	21.1	0.99494186990456357	0.67630	0.45330	0.27514	N	AEFDBHCIJ	0.343489	0.43928	N	0.11141211795275	0.46994	2.931489	0.110348198352323	0.45076	2.777373	0.99999863079065	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	3.78	3.78	0.42629	2.397000	0.44131	4.357000	0.43106	0.520000	0.23804	0.971000	0.34370	1.000000	0.68203	0.109000	0.18697	0.0:1.0:0.0:0.0	13.028	0.58236	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	309.98	30	chr8	73093040	.	C	G	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=586;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=-1.487e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/1:17,13:30:99:324,0,376	20	0	1	0
chr8	74026800	74026802	ACA	-	exonic	LY96	.	nonframeshift deletion	LY96:NM_001195797:exon3:c.253_255del:p.T86del	.	.	489	1030	3	0	0	3	0.00145419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000998403	0.0026	0.0002	0.0019	0	0.0015	0.0032	0.0036	0.0042	0.0001537	4	26028	rs527737087	0.0016	0.0018	0.0015	0.0017	0.0036	0.0015	0.0015	0.0033	0.0031	0.0003	0.0019	0.0002	0	0.0012	0.0013	0.0015	0.0018	0.0036	0.0018	0.0018	0.0021	0.0015	0.0031	0.0016	0.0015	0.0024	0.0022	0.0005	0	0.0031	0	0	0.0008	0	0.0027	0.0014	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2176.94	107	chr8	74026799	.	TACA	T	2176.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-01;DP=823;ExcessHet=0.0000;FS=2.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.35;ReadPosRankSum=0.502;SOR=0.955	GT:AD:DP:GQ:PL	0/1:51,56:107:99:2191,0,1952	20	0	1	0
chr8	76854540	76854540	T	C	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.T7619C:p.F2540S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.97	D	0.000	U	1.000	D	2.175	M	0.45	T	-0.355	T	0.325	T	0.891	2.776	15.25	4.94	2.077	7.868	14.765	0.551	0.0911939629793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	0.000318	0.45977	U	0.000000	1	0.81001	D	.	.	.	0.39	0.57419	T	-5.49	0.85765	D	0.885	0.97961	-0.3547	0.73418	T	0.325	0.69367	T	10	0.83308166	0.82467	D	0.091194	0.75662	D	0.551	0.81427	.	.	0.295975759948	0.29207	0.544445944875155	0.54370	0.903739830431	0.70750	0.823280274868	0.85531	D	.	.	.	0.290988	0.82235	D	0.180207	0.82007	D	0.996355533599854	0.89175	D	0.89941	0.65783	D	.	.	.	.	.	.	.	.	-12.642	0.87835	D	.	.	.	.	.	.;.	.;.	4.630874	0.73628	26.0	0.99682587687309254	0.79373	0.96178	0.67892	D	AEFBCI	0.913932	0.87661	D	0.733439043900722	0.81826	7.613686	0.703539433864668	0.82648	7.819189	0.99999999999616	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.94	4.94	0.64645	8.017000	0.88732	7.957000	0.75973	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.765	0.69253	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	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	3160.98	280	chr8	76854540	.	T	C	3160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.373e+00;DP=1348;ExcessHet=0.0000;FS=1.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.730e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/1:149,131:280:99:3175,0,3993	20	0	1	0
chr8	81459310	81459310	G	A	exonic	FABP9	.	nonsynonymous SNV	FABP9:NM_001080526:exon2:c.C101T:p.A34V,	.	.	431	1077	13	1	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.895	P	0.000	D	0.737	D	2.135	M	2.99	T	-0.977	T	0.062	T	0.231	3.975	20.3	3.09	1.309	1.313	9.178	0.150	0.00498509379659	0.0005	0.00179712	0.0011	0	8.669e-05	0	0.0002	0.0004	0.0011	0.0063	0.0009638	149	154602	rs201617700	0.0009	0.0009	0.0007	0.0011	0.0066	0.0009	0.0008	0.0061	0.0059	0.0001	0.0001	0	0	5.667e-05	0.0025	0.0006	0.0009	0.0066	0.0010	0.0010	0.0009	0.0011	0.0077	0.0009	0.0008	0.0057	0.0050	7.219e-05	0.0648	6.541e-05	0	0	0	0.0034	0.0008	0.0005	0.0077	0.001	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.895	0.63489	P	0.000017	0.62929	D	0.113007	0.736541	0.33776	D	2.855	0.82945	M	2.99	0.09262	T	-3.31	0.65972	D	0.278	0.31478	-0.9768	0.35727	T	0.062	0.25672	T	10	0.0060206056	0.00135	T	0.004985	0.12566	T	0.150	0.39571	.	.	0.366277470483	0.36239	0.6868447070464427	0.68624	0.0636817585115	0.07091	0.318048864603	0.13126	T	0.19422	0.54993	T	-0.522802	0.00424	T	-0.520856	0.20208	T	0.114186860807129	0.13852	T	0.810819	0.46223	T	0.6349538	0.74562	0.5074065	0.71531	0.6349538	0.74563	0.5074065	0.71531	-5.782	0.44417	T	.	.	0.278	0.51112	B	.	.	2.390257	0.30693	18.52	0.99844236439481659	0.92403	0.54468	0.29623	D	AEFBCI	0.185906	0.31322	N	0.0579870307428187	0.44511	2.72379	-0.135583945310088	0.33969	1.948726	0.96239563914729	0.28620	0.516011	0.20929	0	0.491513	0.07743	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.97	3.09	0.34677	1.060000	0.30139	2.227000	0.31499	0.676000	0.76740	0.296000	0.25288	0.969000	0.29651	0.003000	0.05239	0.0894:0.2216:0.6891:0.0	9.178	0.36284	882	0.29131	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1214.98	128	chr8	81459310	.	G	A	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.580e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=-1.070e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/1:76,52:128:99:1229,0,2018	20	0	1	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	0/1:51,53:104:99:1330,0,1453	19	0	2	0
chr8	86069529	86069529	C	A	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon1:c.G94T:p.A32S,	.	.	433	1086	3	0	0	3	0.00137931	.	.	2287670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.05	B	0.015	B	.	.	1.000	N	0.895	L	-0.36	T	-1.014	T	0.139	T	0.221	0.501	6.717	1.29	0.118	-1.618	5.561	0.012	0.00781417017819	0.0004	.	0.0004	0	0.0002	0	0	0.0005	0	0.0004	0.0002458	38	154602	rs370079446	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0008	0.0006	5.994e-05	0.0001	0.0006	0	0	0.0016	0.0004	0.0005	0.0006	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0	0	0.0005	0.0006	0	0	0.0068	0.0006	0.0019	0.0002	0.45	0.08996	T	0.719	0.05363	T	0.05	0.22331	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	-0.36	0.68754	T	0.29	0.04161	N	0.125	0.11769	-1.0138	0.25720	T	0.139	0.45753	T	9	0.027037501	0.00857	T	0.007814	0.20720	T	0.012	0.01476	.	.	0.542363599239	0.53890	0.130931263726795	0.13018	0.0635786863662	0.07079	0.431686460972	0.29438	T	0.001367	0.00832	T	-0.40937	0.02007	T	-0.471775	0.25325	T	0.0132677901670455	0.00237	T	0.284172	0.05010	T	0.028380096	0.02167	0.05842901	0.10794	0.028380096	0.02166	0.05842901	0.10793	-4.829	0.34928	T	.	.	0.084	0.09675	B	.	.	-0.370151	0.02327	0.249	0.84222390181320306	0.15166	0.02176	0.06375	N	AEFDBI	0.038866	0.05564	N	-1.10228149498985	0.06602	0.3044042	-1.12977796052051	0.07136	0.3459963	0.998769617888187	0.37623	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.22	1.29	0.20717	-1.669000	0.02060	-3.167000	0.03004	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3435:0.4207:0.2358:0.0	5.561	0.16429	487	0.76954	.	.	.	.	.	.	Uncertain significance	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	636.98	39	chr8	86069529	.	C	A	636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=671;ExcessHet=0.0000;FS=1.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=0.071;SOR=0.389	GT:AD:DP:GQ:PL	0/1:16,23:39:99:651,0,316	20	0	1	0
chr8	106706468	106706468	G	A	exonic	OXR1	.	nonsynonymous SNV	OXR1:NM_181354:exon7:c.G926A:p.R309Q	.	.	438	1083	1	0	0	1	0.000461467	.	.	2233472	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.999	D	0.908	P	0.000	D	1.000	D	2.005	M	2.64	T	-1.055	T	0.146	T	0.599	3.965	20.3	5.98	2.847	5.388	20.456	0.181	0.0119289489426	0.0002	0.000599042	0.0002	9.621e-05	8.706e-05	0.0008	0	0.0001	0	0.0005	0.0002975	46	154602	rs144462912	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0005	6.245e-05	2.601e-05	0	0.0006	0	0	6.504e-05	0.0007	0.0007	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	0.0003	0	0	0	0.0010	0	0	5.88e-05	0	0.0021	0.024	0.47745	D	0.106	0.39492	T	0.999	0.77913	D	0.894	0.64494	P	0.000102	0.50451	D	0.124622	0.99648	0.81001	D	2.695	0.78878	M	2.63	0.25841	T	-1.27	0.33798	N	0.117	0.15187	-1.0552	0.12987	T	0.146	0.46985	T	10	0.029653043	0.01092	T	0.011929	0.30037	T	0.181	0.45247	.	.	0.503744809241	0.50012	0.33825477972638224	0.33738	0.207007681812	0.23137	0.386832177639	0.23222	T	0.041258	0.25798	T	-0.335813	0.05684	T	-0.311496	0.43497	T	0.199253216385841	0.20374	T	0.933207	0.76978	D	0.1370212	0.31743	0.11507378	0.27778	0.1370212	0.31742	0.11507378	0.27778	-2.993	0.10763	T	.	.	0.090	0.14523	B	.;.;.;.;.	.;.;.;.;.	3.890906	0.56615	23.8	0.99950660863943219	0.99944	0.98588	0.84418	D	AEFBI	0.507712	0.53790	D	0.510286504180516	0.67696	5.116271	0.498564651943599	0.67894	5.145639	0.999998410534377	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.98	5.98	0.97147	1.361000	0.33740	4.587000	0.43943	0.618000	0.50648	0.112000	0.23030	1.000000	0.68203	0.870000	0.41412	0.0:0.0:1.0:0.0	20.456	0.99148	905	0.23532	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3100.08	93	chr8	106706468	.	G	A	3100.08	.	AC=2;AF=0.048;AN=42;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.33;SOR=1.119	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3128,279,0	20	1	0	0
chr8	109245394	109245394	C	A	exonic	NUDCD1	.	nonsynonymous SNV	NUDCD1:NM_001128211:exon9:c.G1300T:p.A434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.94	D	0.000	D	1.000	D	2.675	M	1.82	T	-0.730	T	0.188	T	0.778	5.490	35	5.42	2.559	7.365	18.218	0.373	0.017962604643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.036	0.56192	D	0.997	0.73220	D	0.931	0.66596	D	0.000000	0.84330	D	0.048143	0.999999	0.58761	D	3.06	0.86941	M	1.82	0.25182	T	-1.61	0.38734	N	0.784	0.78072	-0.7304	0.58943	T	0.188	0.53901	T	10	0.93525636	0.92857	D	0.017963	0.39858	T	0.373	0.69188	0.87	0.96319	0.530900991162	0.52739	0.7251941874226223	0.72463	0.26241307256	0.28800	0.631593823433	0.57371	T	0.09473	0.39475	T	0.115564	0.65923	D	-0.0717769	0.65499	T	0.987477540969849	0.77962	D	0.927907	0.73422	D	0.24236126	0.47163	0.21368662	0.45890	0.24236126	0.47163	0.21368662	0.45889	-8.885	0.66953	D	.	.	0.410	0.60144	A	.;.	.;.	4.657814	0.74315	26.1	0.99805355185191458	0.88995	0.98664	0.85307	D	AEFBI	0.878360	0.80358	D	0.859750999076382	0.89656	10.06216	0.823234035096937	0.91360	10.84729	0.999999991466174	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	7.445000	0.79656	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.218	0.89828	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	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	3243.08	106	chr8	109245394	.	C	A	3243.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.60;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3271,318,0	20	1	0	0
chr8	112336775	112336775	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon40:c.A6296T:p.Y2099F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.078	B	0.098	B	0.000	D	0.997	D	0.825	L	1.76	T	-1.102	T	0.045	T	0.529	1.951	12.48	5.64	2.367	4.738	16.024	0.116	0.00657786591523	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs765598138	0.0001	0.0001	7.899e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	2.525e-05	0	0.0007	0	8.282e-05	0.0022	3.943e-05	3.94e-05	1.285e-05	6.728e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.02489	T	1.0	0.01155	T	0.026	0.24389	B	0.063	0.30479	B	0.000068	0.52346	D	0.078785	0.997028	0.43577	D	0.415	0.12483	N	1.76	0.25996	T	-1.19	0.32590	N	0.4	0.45615	-1.1016	0.03903	T	0.045	0.19234	T	10	0.036373377	0.01932	T	0.006578	0.17358	T	0.116	0.32463	0.728	0.86198	0.376089632046	0.37223	0.3294693004118944	0.32859	0.52909541509	0.50476	0.657410681248	0.61038	T	0.04483	0.26936	T	-0.441739	0.01263	T	-0.420534	0.31014	T	0.0975454494202075	0.12084	T	0.855114	0.57669	D	0.22514439	0.45170	0.16649754	0.38461	0.22514439	0.45170	0.16649754	0.38460	-2.323	0.08444	T	.	.	0.114	0.22789	B	.;.;.;.	.;.;.;.	3.021601	0.40446	21.2	0.94562020770215782	0.25088	0.94260	0.60603	D	AEFI	0.655479	0.62780	D	-0.175695937885163	0.34149	1.945672	0.052495018698139	0.42194	2.547794	0.525092470884417	0.21129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.210000	0.50832	4.983000	0.46475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.024	0.80323	868	0.31772	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3689.08	126	chr8	112336775	.	T	A	3689.08	.	AC=2;AF=0.048;AN=42;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.28;SOR=0.899	GT:AD:DP:GQ:PL	1/1:0,126:126:99:3717,378,0	20	1	0	0
chr8	118933201	118933201	A	G	exonic	TNFRSF11B	.	nonsynonymous SNV	TNFRSF11B:NM_002546:exon2:c.T130C:p.C44R,	Paget disease of bone 5, juvenile-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.885	M	-8.3	D	0.879	D	0.997	D	0.989	3.722	18.90	6.17	2.371	8.292	16.822	0.933	0.76444853586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.08	0.87267	M	-8.3	0.99935	D	-10.85	0.99226	D	0.948	0.95608	0.879	0.95393	D	0.997	0.99930	D	9	0.99266195	0.99802	D	0.764449	0.98133	D	0.933	0.98452	0.908	0.98109	0.954305882826	0.95382	0.9997536499644859	0.99975	1.30036020791	0.83001	0.73776447773	0.72644	T	0.968698	0.99643	D	0.569966	0.96608	D	0.58094	0.96551	D	0.999729096889496	0.98678	D	0.855414	0.54290	D	0.98907566	0.99715	0.97500575	0.99663	0.98907566	0.99715	0.97500575	0.99664	-11.449	0.82063	D	0.8424373327311545	0.91063	0.985	0.92330	P	.	.	5.222549	0.87654	29.3	0.99707991353825176	0.81143	0.99601	0.97871	D	AEFGBI	0.962952	0.98470	D	0.846491164531762	0.88908	9.758731	0.811241202565987	0.90563	10.46499	0.999999999999381	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	8.287000	0.89845	11.269000	0.91340	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	1.0:0.0:0.0:0.0	16.822	0.85699	866	0.32446	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tyrosine-protein kinase ephrin type A/B receptor-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	0.04762	3953.08	137	chr8	118933201	.	A	G	3953.08	.	AC=2;AF=0.048;AN=42;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.85;SOR=0.898	GT:AD:DP:GQ:PL	1/1:0,137:137:99:3981,411,0	20	1	0	0
chr8	123645953	123645953	C	A	exonic	KLHL38	.	nonsynonymous SNV	KLHL38:NM_001081675:exon4:c.G1532T:p.R511M,	.	.	410	1106	6	0	0	6	0.00270514	.	.	2338388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.88	H	-2.01	D	0.942	D	0.837	D	0.883	3.940	20.1	4.3	1.174	6.092	15.685	0.854	0.252736437437	0.0006	0.000199681	0.0005	0.0001	0.0009	0	0	0.0006	0.0022	0.0004	0.0004269	66	154602	rs201599108	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	0.0001	0.0007	0.0006	0	1.872e-05	0.0031	0.0002	0.0005	0.0004	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0005	0.0004	9.626e-05	0.0219	0.0008	0.0003	0	0	0	0.0005	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.044956	0.99995	0.52396	D	3.7	0.94612	H	-2.01	0.85468	D	-4.11	0.74980	D	0.786	0.78262	0.942	0.96271	D	0.837	0.94557	D	10	0.15214586	0.28745	T	0.252736	0.89184	D	0.854	0.95507	.	.	0.815342491016	0.81360	0.8341560103418265	0.83374	0.307561973651	0.33053	0.696951568127	0.66704	T	0.619844	0.88068	D	0.150267	0.69293	D	0.352715	0.90424	D	0.395794451236725	0.28783	T	0.757724	0.38135	T	0.46202433	0.64796	0.5532881	0.74167	0.46202433	0.64797	0.5532881	0.74168	-12.828	0.88642	D	.	.	0.657	0.71217	P	.	.	4.526813	0.71028	25.6	0.96840856866276759	0.31301	0.97737	0.76769	D	AEFDGBI	0.866243	0.78560	D	0.585045559153105	0.72240	5.774808	0.471426344125517	0.66103	4.908828	0.999999996779966	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.18	4.3	0.50540	6.174000	0.71864	3.351000	0.37785	-0.214000	0.08267	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.8624:0.1376:0.0	15.685	0.77157	969	0.06854	.	.	.	.	.	.	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	1094.98	118	chr8	123645953	.	C	A	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e-01;DP=856;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=-1.259e+00;SOR=0.603	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1109,0,1692	20	0	1	0
chr8	125007483	125007483	T	A	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon4:c.T818A:p.I273N,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.49	P	0.068	B	0.073	N	1.000	N	1.59	L	0.94	T	-1.046	T	0.070	T	0.129	0.396	6.148	1.4	0.014	0.666	8.832	0.032	0.0194625693944	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs760505492	1.225e-05	1.642e-05	7.115e-06	1.753e-05	0.0002	7.46e-06	6.1e-06	0.0001	9.641e-05	0	0	0	0	0	0.0002	0	1.74e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15984	T	0.303	0.20164	T	0.49	0.36941	P	0.068	0.27651	B	0.072627	0.21397	N	0.532681	1	0.08975	N	2.38	0.68558	M	0.94	0.43672	T	-1.61	0.38734	N	0.292	0.36148	-1.0460	0.15534	T	0.070	0.28609	T	10	0.095998764	0.17186	T	0.019463	0.41828	T	0.032	0.07718	0.448	0.50793	0.176862962021	0.17281	0.4574626654173217	0.45664	0.432731136246	0.43444	0.275802880526	0.06914	T	0.023803	0.87875	T	-0.483189	0.00709	T	-0.607901	0.12156	T	0.0648852764591843	0.07914	T	0.873913	0.58386	D	0.19494224	0.41264	0.12617749	0.30392	0.19494224	0.41264	0.12617749	0.30391	-7.259	0.55903	T	.	.	0.104	0.19438	B	.;.	.;.	1.738194	0.22118	15.49	0.86897664302268729	0.16848	0.28277	0.23510	N	AEFDGBI	0.302352	0.41063	N	-0.905126168603985	0.10721	0.5137219	-0.93184443722755	0.11344	0.5773815	0.999991914846302	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	1.4	0.21393	0.671000	0.24853	-0.042000	0.12656	-0.402000	0.05293	0.001000	0.13787	0.000000	0.08366	0.296000	0.24405	0.0:0.5041:0.0:0.4959	8.832	0.34248	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1127.98	118	chr8	125007483	.	T	A	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.607;DP=810;ExcessHet=0.0000;FS=2.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=0.123;SOR=0.769	GT:AD:DP:GQ:PL	0/1:68,50:118:99:1142,0,1622	20	0	1	0
chr8	132003281	132003281	A	G	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon22:c.A2248G:p.I750V	.	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.006	B	0.024	B	0.000	N	1.000	D	2.045	M	1.53	T	-1.087	T	0.051	T	0.142	1.200	9.877	3.08	0.465	4.489	9.118	0.075	0.00889147433088	0.0038	0.00239617	0.0045	0.0011	0.0064	0	0.0003	0.0063	0.0088	0.0016	0.0045019	696	154602	rs147579193	0.0060	0.0060	0.0061	0.0059	0.0070	0.0059	0.0058	0.0069	0.0069	0.0009	0.0063	0.0021	2.526e-05	0.0005	0.0061	0.0070	0.0058	0.0017	0.0044	0.0044	0.0043	0.0045	0.0089	0.0041	0.0040	0.0077	0.0072	0.0012	0.0176	0.0089	0.0029	0	0.0002	0.0068	0.0064	0.0062	0.0008	0.388	0.10909	T	0.41	0.14544	T	0.006	0.13644	B	0.024	0.20255	B	0.000001	0.84330	N	0.089876	0.999982	0.54805	D	1.995	0.54099	M	1.53	0.30401	T	-0.3	0.11913	N	0.334	0.37509	-1.0873	0.05995	T	0.051	0.21495	T	10	0.006929666	0.00157	T	0.008891	0.23439	T	0.075	0.21907	.	.	0.215869574891	0.21205	0.31041666110087357	0.30954	0.0537663119061	0.05938	0.534680366516	0.43693	T	0.003596	0.06790	T	-0.527604	0.00397	T	-0.524245	0.19865	T	0.0162182734190474	0.00396	T	0.785921	0.42389	T	0.047587257	0.08158	0.052349526	0.08607	0.047587257	0.08157	0.052349526	0.08606	-2.765	0.07865	T	.	.	0.101	0.32299	B	.;.;.	.;.;.	3.031683	0.40608	21.2	0.95113376504569735	0.26202	0.98256	0.80988	D	AEFGBI	0.546098	0.56034	D	-0.266557777652939	0.30448	1.697848	-0.162233678068028	0.32940	1.879106	0.909109245816487	0.26302	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	3.08	0.34576	4.355000	0.59199	7.086000	0.57489	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8517:0.0:0.1483:0.0	9.118	0.35928	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	97	chr8	132003281	.	A	G	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.147;SOR=0.634	GT:AD:DP:GQ:PL	0/1:40,57:97:99:1284,0,792	20	0	1	0
chr8	139988739	139988739	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon18:c.G2770A:p.G924S	Mental retardation, autosomal recessive 13, Autosomal recessive	.	4	1463	53	2	0	57	0.0191083	.	.	136075	not_specified|Inborn_genetic_diseases|Intellectual_Disability,_Recessive|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:CN239290|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.436	B	0.049	B	0.000	N	0.751	N	0.69	N	.	.	-1.052	T	0.021	T	0.252	2.273	13.56	3.29	0.446	1.679	9.085	0.042	.	0.0053	0.0129792	0.0146	0.0221	0.0076	0	0	0.0010	0.0052	0.0281	0.0026455	409	154602	rs114949291	0.0027	0.0026	0.0020	0.0035	0.0256	0.0027	0.0026	0.0247	0.0243	0.0237	0.0017	0.0035	2.798e-05	4.101e-05	0.0128	0.0005	0.0042	0.0256	0.0068	0.0068	0.0067	0.0068	0.0245	0.0064	0.0063	0.0209	0.0196	0.0185	0	0.0040	0.0035	0	0	0.0068	0.0007	0.0071	0.0245	0.209	0.19710	T	0.596	0.09588	T	0.005	0.35766	B	0.006	0.24832	B	0.000012	0.62929	N	0.114026	0.751216	0.29636	N	0.4	0.12274	N	.	.	.	-0.01	0.08033	N	0.295	0.33578	-1.0517	0.13926	T	0.021	0.08870	T	9	0.004834801	0.00103	T	.	.	.	0.042	0.11227	.	.	0.362758974969	0.35886	0.12049268189326275	0.11976	0.0848231563066	0.09583	0.331068098545	0.15096	T	0.025992	0.19327	T	-0.469245	0.00859	T	-0.42789	0.30176	T	0.0152808649358406	0.00338	T	0.811819	0.46320	T	0.03616323	0.04396	0.068118654	0.14183	0.038391553	0.05105	0.068118654	0.14182	-5.282	0.39764	T	.	.	0.091	0.13783	B	.;.;.;.	.;.;.;.	1.011054	0.13902	10.46	0.98729725598533269	0.45333	0.70043	0.34429	D	AEFDGBI	0.166247	0.29281	N	-0.0499159299800223	0.39605	2.33835	0.0126682155892763	0.40303	2.403049	0.999779627183075	0.42865	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	3.29	0.36801	1.772000	0.38182	-0.374000	0.09587	0.599000	0.40250	0.924000	0.32081	0.000000	0.08366	0.521000	0.29498	0.0:0.7858:0.0:0.2142	9.085	0.35738	971	0.05719	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	5621.11	183	chr8	139988739	.	C	T	5621.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.29;DP=1279;ExcessHet=0.1072;FS=1.241;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.53;ReadPosRankSum=0.518;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,84:183:99:0|1:139988737_A_G:2253,0,2268:139988737	19	0	2	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,54,0:54:99:2392,163,0,2392,163,2392	0	17	0	0
chr8	143924453	143924453	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C5434T:p.R1812W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	7	1449	59	7	0	73	0.0245709	.	.	177252	not_specified|Arrhythmogenic_right_ventricular_dysplasia_1|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MedGen:CN169374|MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.003	U	0.996	D	1.61	L	-2.88	D	0.641	D	0.803	D	0.425	0.688	7.675	2.3	0.372	1.925	12.149	0.426	.	.	0.00339457	0.0098	0.0004	0.0033	0.0003	0.0007	0.0107	0.0101	0.0171	0.0040426	625	154602	rs200575795	0.0044	0.0044	0.0041	0.0048	0.0141	0.0043	0.0043	0.0130	0.0127	0.0005	0.0028	0.0307	0.0001	0.0009	0.0141	0.0034	0.0065	0.0137	0.0037	0.0037	0.0037	0.0036	0.0142	0.0034	0.0033	0.0115	0.0105	0.0004	0.0121	0.0026	0.0326	0.0002	0.0009	0	0.0042	0.0062	0.0142	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.002697	0.36102	U	0.108057	0.99568	0.42807	D	2.24	0.63355	M	-2.88	0.91533	D	-1.88	0.46673	N	0.49	0.54234	0.641	0.92429	D	0.803	0.93323	D	10	0.007696271	0.00175	T	.	.	.	0.426	0.73372	.	.	0.538698623518	0.53521	0.6664321229980325	0.66581	.	.	0.520834326744	0.41744	T	0.366939	0.73210	T	-0.225344	0.17271	T	-0.0847904	0.64552	T	0.0308348928505275	0.02119	T	0.990268	0.96984	D	0.1167003	0.27523	0.07219795	0.15548	0.09942296	0.23464	0.09908997	0.23646	-9.825	0.73726	D	0.5669249192020892	0.63433	0.153	0.38924	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.400946	0.47136	22.4	0.98261974105264538	0.39676	0.48628	0.28250	N	AEFDBCI	0.457677	0.50902	N	-0.266233349672278	0.30461	1.698689	-0.464760334146812	0.23131	1.259887	0.999895881367692	0.45129	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.2	2.3	0.27735	2.651000	0.46338	.	.	-0.177000	0.10537	0.124000	0.23245	1.000000	0.68203	0.092000	0.17891	0.0:0.0:0.6888:0.3112	12.149	0.53344	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2222.11	57	chr8	143924453	.	G	A	2222.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.13;DP=1177;ExcessHet=0.1072;FS=0.617;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=2.67;SOR=0.619	GT:AD:DP:GQ:PL	0/1:23,34:57:99:971,0,617	19	0	2	0
chr8	144046676	144046676	G	A	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_198572:exon5:c.G1496A:p.R499K,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.001	B	0.383	N	0.999	N	0	N	1.04	T	-1.006	T	0.039	T	0.071	1.047	9.276	1.08	0.179	-0.068	4.144	0.008	0.00470747511698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	1.363e-06	2.754e-06	0.0002	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.732	0.05128	T	0.001	0.07471	B	0.001	0.04355	B	0.383415	0.13358	N	0.726893	1	0.21497	N	0	0.06538	N	1.04	0.40218	T	-0.09	0.08340	N	0.1	0.08227	-1.0061	0.28126	T	0.039	0.16892	T	10	0.018320084	0.00397	T	0.004707	0.11722	T	0.008	0.00669	0.276	0.22845	0.0138822411134	0.00435	0.6023596860347361	0.60166	0.0874412039859	0.09862	0.344850480556	0.17160	T	0.002867	0.02258	T	-0.340275	0.05369	T	-0.726558	0.04485	T	0.0324611727048194	0.02382	T	0.144286	0.01174	T	0.038469024	0.05131	0.10383971	0.24925	0.038469024	0.05130	0.10383971	0.24925	-3.653	0.18627	T	.	.	0.095	0.14842	B	.	.	0.725937	0.10952	7.616	0.87137613448826934	0.17015	0.16799	0.19554	N	AEFDGBCI	0.056991	0.10580	N	-1.30840661364357	0.03578	0.1600917	-1.20932207027366	0.05759	0.2753221	0.999953700269545	0.48110	0.59774	0.34471	0	0.610034	0.51514	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.07	1.08	0.19456	0.217000	0.17389	.	.	-1.788000	0.00641	0.002000	0.15269	0.001000	0.17328	0.316000	0.24877	0.0:0.5372:0.1732:0.2896	4.144	0.09672	970	0.06235	Speriolin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2031.98	136	chr8	144046676	.	G	A	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.995;DP=820;ExcessHet=0.0000;FS=2.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-6.550e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:60,76:136:99:2046,0,1556	20	0	1	0
chr8	144260938	144260938	C	T	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon39:c.C4541T:p.P1514L	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	2.495	M	-0.38	T	-0.118	T	0.463	T	0.443	2.871	15.56	3.5	1.657	4.065	12.900	0.395	0.574619260752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.396e-06	7.952e-06	0	1.174e-05	8.578e-06	1.5e-06	1.01e-06	2.28e-06	6.3e-07	0	0	0	0	0	0	8.578e-06	3.038e-05	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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.88582	D	0.000001	0.62929	D	0.000000	0.999992	0.58761	D	2.76	0.80626	M	-0.38	0.69027	T	-5.77	0.94702	D	0.415	0.51137	-0.1184	0.79671	T	0.463	0.79190	T	10	0.63976157	0.68989	D	0.574619	0.96166	D	0.395	0.71004	0.468	0.54052	0.421022328559	0.41717	0.6032129531011171	0.60252	0.284799426863	0.30896	0.715548276901	0.69397	T	0.133541	0.46427	T	0.0452583	0.57731	T	-0.172766	0.57190	T	0.997216463088989	0.91033	D	0.944006	0.78847	D	0.3998577	0.60722	0.24018739	0.49387	0.3998577	0.60723	0.24018739	0.49385	-6.769	0.54667	T	.	.	0.156	0.48715	B	.;.;.;.	.;.;.;.	3.291688	0.45147	22.1	0.99791895149233112	0.87750	0.94997	0.63064	D	AEFGI	0.396361	0.47287	N	0.327991429837495	0.57590	3.926858	0.180385015085692	0.48771	3.088796	0.966118721169499	0.28880	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	3.5	3.5	0.39181	3.089000	0.49880	3.275000	0.37188	0.583000	0.30283	0.685000	0.28485	0.859000	0.27469	0.062000	0.16114	0.0:1.0:0.0:0.0	12.900	0.57511	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	0	0	0	0	0.02381	1191.98	91	chr8	144260938	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=926;ExcessHet=0.0000;FS=2.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-8.670e-01;SOR=0.453	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1206,0,1311	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	0/1:26,19,0:45:99:.:.:530,0,725,608,782,1389	3	5	9	0
chr9	418152	418152	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon28:c.C3485T:p.A1162V	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	638353	not_provided|Combined_immunodeficiency_due_to_DOCK8_deficiency	MedGen:C3661900|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.899	P	0.607	P	0.000	D	1.000	D	2.425	M	1.64	T	-0.919	T	0.157	T	0.822	4.604	25.1	5.92	2.822	6.123	20.334	0.248	0.0424120770869	7.7e-05	0.000399361	9.884e-05	0.0003	0	0	0	0	0	0.0005	9.06e-05	14	154602	rs376233983	3.283e-05	3.283e-05	1.497e-05	5.088e-05	0.0005	2.543e-05	2.249e-05	0.0003	0.0003	0.0001	0	0	0	0	0	0	4.967e-05	0.0005	5.253e-05	5.25e-05	2.57e-05	8.059e-05	0.0004	2.556e-05	1.829e-05	7.29e-05	4.291e-05	0.0001	0	0	0	0	0	0	0	0	0.0004	0.073	0.58626	T	0.02	0.61642	D	0.899	0.49514	P	0.607	0.51000	P	0.000001	0.84330	D	0.093635	1	0.81001	D	3.085	0.87354	M	1.64	0.27822	T	-3.42	0.67241	D	0.772	0.76946	-0.9193	0.45648	T	0.157	0.48858	T	10	0.36541855	0.53061	T	0.042412	0.60452	D	0.248	0.55615	.	.	0.332646915603	0.32870	0.6262383292892855	0.62556	0.289057747016	0.31311	0.718780338764	0.69868	T	0.530352	0.83737	D	-0.0971682	0.36893	T	-0.0493915	0.67064	D	0.422997027635574	0.29801	T	0.987201	0.96130	D	0.35420957	0.57393	0.325366	0.58453	0.35420957	0.57393	0.325366	0.58452	-7.157	0.55273	T	0.3292036972313812	0.42725	0.195	0.56619	B	.;.;.;.	.;.;.;.	4.562194	0.71907	25.7	0.9989020526622131	0.96436	0.98768	0.86602	D	AEFBI	0.718103	0.66940	D	0.663317268473858	0.77232	6.635503	0.70570634190699	0.82814	7.860739	0.99999999999685	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.92	5.92	0.95557	6.394000	0.73153	5.894000	0.50799	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.334	0.98733	834	0.38640	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	2970.08	99	chr9	418152	.	C	T	2970.08	.	AC=2;AF=0.048;AN=42;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.00;SOR=0.888	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2998,296,0	20	1	0	0
chr9	20758092	20758092	A	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375570:exon5:c.A290G:p.N97S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.02	B	0.011	N	0.614	D	0.55	N	2.0	T	-1.038	T	0.026	T	0.046	0.661	7.543	-0.076	-0.250	0.114	5.413	0.027	0.00477177773327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.08091	T	0.288	0.21144	T	.	.	.	.	.	.	0.011360	0.29565	N	0.399599	0.614444	0.32650	D	.	.	.	2.0	0.21473	T	-0.31	0.12099	N	0.202	0.22357	-1.0378	0.17985	T	0.026	0.10954	T	10	0.047581285	0.04095	T	0.004772	0.11910	T	0.027	0.05988	0.228	0.15406	0.112648838833	0.10856	0.11129214360005082	0.11058	0.00635658170257	0.00556	0.377763181925	0.21939	T	.	.	.	-0.336024	0.05668	T	-0.720452	0.04774	T	0.0794006139039993	0.09909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05890	B	.;.	.;.	1.301991	0.17042	12.92	0.82204280209079794	0.14071	0.10374	0.15898	N	AEFBI	0.056947	0.10569	N	-0.780053685926043	0.13830	0.6842397	-0.697008185635478	0.17035	0.9039821	0.521890494590934	0.21103	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	-0.0758	0.13059	0.046000	0.13919	0.337000	0.17343	0.756000	0.94297	0.009000	0.18154	0.004000	0.18990	0.968000	0.53726	0.5734:0.277:0.1497:0.0	5.413	0.15659	629	0.65079	.;.	.	.	.	.	.	Uncertain significance	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	232.68	109	chr9	20758092	.	A	G	232.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.046e+00;DP=1329;ExcessHet=0.3300;FS=119.092;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=1.08;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,13:109:28:0|1:20758091_A_G:28,0,3541:20758091	18	0	3	0
chr9	21077372	21077372	T	C	exonic	IFNB1	.	nonsynonymous SNV	IFNB1:NM_002176:exon1:c.A498G:p.I166M,	.	.	.	.	.	.	.	.	.	.	.	723531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.959	D	0.744	N	1.000	N	2.77	M	3.76	T	-1.147	T	0.020	T	0.127	1.585	11.26	-5.49	-1.202	-2.047	5.197	0.145	.	0.0050	0.00698882	0.0017	0.0169	0.0010	0	0	0.0003	0.0011	0	0.0016429	254	154602	rs141894933	0.0005	0.0005	0.0006	0.0005	0.0156	0.0005	0.0005	0.0145	0.0141	0.0156	0.0010	0	0	0	0.0014	0.0001	0.0011	3.479e-05	0.0051	0.0051	0.0053	0.0049	0.0174	0.0048	0.0047	0.0164	0.0160	0.0174	0	0.0023	0	0	0	0.0034	0.0002	0.0033	0	0.004	0.65419	D	0.005	0.72224	D	0.996	0.68779	D	0.959	0.70163	D	0.743751	0.09755	N	0.885835	1	0.08975	N	1.92	0.51302	L	3.76	0.03892	T	-1.96	0.45404	N	0.185	0.20129	-1.1475	0.01101	T	0.020	0.08220	T	10	0.012941986	0.00276	T	.	.	.	0.145	0.38592	.	.	0.5732715451	0.56994	0.1716432201492929	0.17084	0.0257320318614	0.02628	0.315415620804	0.12727	T	0.207861	0.56763	T	-0.64216	0.00081	T	-0.681569	0.06888	T	0.0802426453652328	0.10018	T	0.741226	0.36032	T	0.6710999	0.76492	0.46239942	0.68786	0.6710999	0.76493	0.46239942	0.68787	-5.263	0.39576	T	.	.	0.211	0.43949	B	.	.	1.026279	0.14061	10.63	0.97729660470409352	0.35610	0.01750	0.05513	N	AEFBI	0.041508	0.06321	N	-0.743353108104271	0.14815	0.7411993	-1.05464843703023	0.08610	0.4241876	0.994146248643702	0.33507	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.45	-5.49	0.02381	-1.661000	0.02074	.	.	-0.736000	0.03693	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1184:0.1461:0.5451:0.1903	5.197	0.14569	737	0.53483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1394.98	115	chr9	21077372	.	T	C	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.569e+00;DP=802;ExcessHet=0.0000;FS=4.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-4.080e-01;SOR=0.376	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1409,0,1494	20	0	1	0
chr9	32541457	32541457	G	T	exonic	TOPORS	.	stopgain	TOPORS:NM_001195622:exon2:c.C2873A:p.S958X	Retinitis pigmentosa 31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.192	N	1.000	D	.	.	.	.	.	.	.	.	.	7.694	39	4.46	1.386	2.215	6.370	.	.	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191906	0.16824	N	0.441099	0.999744	0.48716	D	.	.	.	.	.	.	.	.	.	0.659	0.67650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507981	0.94534	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.377873	0.96454	36	0.99628819754583964	0.75898	0.93523	0.58449	D	AEFBI	0.053563	0.09661	N	0.69297911906436	0.79172	7.02195	0.550742693833055	0.71448	5.656558	0.999975282294708	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.37	4.46	0.53567	2.267000	0.42986	3.842000	0.40046	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1634:0.1516:0.685:0.0	6.370	0.20680	482	0.77288	.;.	.	.	.	.	.	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	1546.98	134	chr9	32541457	.	G	T	1546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=1.59;SOR=0.696	GT:AD:DP:GQ:PL	0/1:73,61:134:99:1561,0,1833	20	0	1	0
chr9	32541882	32541882	G	C	exonic	TOPORS	.	nonsynonymous SNV	TOPORS:NM_001195622:exon2:c.C2448G:p.H816Q	Retinitis pigmentosa 31	.	0	1506	15	1	0	17	0.00561241	.	.	193587	not_provided|not_specified|Retinitis_pigmentosa	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.987	D	0.737	P	0.000	D	0.541	D	0.805	L	2.39	T	-1.044	T	0.031	T	0.467	1.935	12.43	0.349	-0.165	0.267	10.066	0.172	0.00746497791374	0.0025	0.00119808	0.0028	0.0003	0.0017	0	0.0014	0.0043	0.0044	0.0007	0.0027943	432	154602	rs41302222	0.0042	0.0042	0.0044	0.0039	0.0049	0.0041	0.0041	0.0048	0.0048	0.0006	0.0024	0.0036	0	0.0017	0.0021	0.0049	0.0037	0.0012	0.0025	0.0025	0.0028	0.0022	0.0042	0.0023	0.0022	0.0038	0.0037	0.0008	0	0.0014	0.0037	0	0.0013	0.0068	0.0042	0.0028	0.0015	0.01	0.56456	D	0.206	0.27056	T	0.987	0.61912	D	0.737	0.55577	P	0.000106	0.50451	D	0.000000	0.540665	0.32051	D	1.955	0.52871	M	2.37	0.15964	T	-1.4	0.34596	N	0.317	0.40264	-1.0437	0.16207	T	0.031	0.13242	T	10	0.0053914785	0.00118	T	0.007465	0.19792	T	0.172	0.43662	0.076	0.00544	0.439152036679	0.43537	0.14323177204597334	0.14246	0.313255474881	0.33618	0.414296090603	0.27051	T	0.035694	0.23820	T	-0.475862	0.00782	T	-0.453708	0.27286	T	0.0201540564812572	0.00716	T	0.69953	0.30934	T	0.069969065	0.15373	0.111961134	0.27011	0.097767696	0.23050	0.11561411	0.27909	-4.54	0.32197	T	.	.	0.242	0.56025	B	.;.	.;.	2.236339	0.28556	17.83	0.98876732715991911	0.47754	0.87381	0.46903	D	AEFBI	0.326836	0.42799	N	-0.105306149837928	0.37160	2.158043	-0.108196561696454	0.35059	2.023843	0.999585710153332	0.40607	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.91	0.349	0.15269	0.289000	0.18713	4.861000	0.45471	-0.116000	0.14526	0.990000	0.36992	1.000000	0.68203	0.994000	0.71098	0.5193:0.0:0.4807:0.0	10.066	0.41479	482	0.77288	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1456.98	155	chr9	32541882	.	G	C	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=1268;ExcessHet=0.0000;FS=5.986;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-8.580e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:93,62:155:99:1471,0,2458	20	0	1	0
chr9	35906598	35906598	-	CCACCC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.311_312insCCACCC:p.H107_R108insPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0095	0.0018	0.0053	0.0034	0.0021	0	0.0008	0.0029624	458	154602	rs762598108	0.0062	0.0055	0.0063	0.0060	0.0106	0.0061	0.0060	0.0096	0.0092	0.0018	0.0046	0.0003	0.0106	0.0076	0.0030	0.0067	0.0054	0.0023	0.0085	0.0090	0.0083	0.0088	0.0303	0.0080	0.0077	0.0249	0.0229	0.0026	0	0.0088	0.0013	0.0303	0.0187	0.0114	0.0097	0.0101	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1128.38	42	chr9	35906598	.	A	ACCACCC,ACCACCACCACCACCACCC,C	1128.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=-1.116e+00;DP=676;ExcessHet=0.3300;FS=0.900;InbreedingCoeff=-0.0768;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-4.940e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/3:27,0,0,15:42:99:330,411,1217,411,1217,1217,0,806,806,761	18	0	1	0
chr9	35957935	35957935	C	T	exonic	OR2S2	.	nonsynonymous SNV	OR2S2:NM_019897:exon1:c.G164A:p.R55H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.002	B	0.002	B	0.467	N	1.000	N	-0.425	N	7.15	T	-0.953	T	0.001	T	0.1	-1.972	0.007	-7.03	-1.694	-3.752	17.031	0.077	0.00304242500484	0.0002	.	5.768e-05	0.0006	0	0	0	1.499e-05	0	0	4.53e-05	7	154602	rs375745627	2.189e-05	2.189e-05	2.178e-05	2.2e-05	0.0005	1.584e-05	1.356e-05	0.0003	0.0002	0.0005	8.945e-05	0	0	0	0.0002	6.295e-06	4.967e-05	1.159e-05	0.0001	0.0001	0.0001	9.408e-05	0.0004	7.577e-05	6.282e-05	0.0002	0.0002	0.0004	0	6.537e-05	0	0	0	0	0	0.0005	0	1.0	0.00964	T	.	.	.	0.002	0.09854	B	0.002	0.06944	B	0.467188	0.12321	N	0.721832	0.999977	0.18612	N	-0.205	0.04094	N	7.15	0.00440	T	1.36	0.00878	N	0.038	0.01203	-0.9526	0.40520	T	0.001	0.00188	T	10	0.02461645	0.00684	T	0.003042	0.06547	T	0.077	0.22490	.	.	0.17948927462	0.17512	0.060804377690670784	0.06020	0.0718842067484	0.08051	0.180018544197	0.00094	T	0.001984	0.01394	T	-0.63536	0.00089	T	-0.796394	0.01995	T	0.0099761586933763	0.00133	T	0.221578	0.02858	T	0.03958556	0.05492	0.07237679	0.15607	0.03958556	0.05492	0.07237679	0.15606	-2.699	0.07295	T	.	.	0.073	0.04558	B	.	.	-0.627729	0.01498	0.094	0.18733910673484322	0.00602	0.00869	0.03447	N	AEFBI	0.035046	0.04446	N	-1.88050830523796	0.00376	0.01617633	-1.90546567730426	0.00478	0.02115459	0.999781581037705	0.43007	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.07	-7.03	0.01428	-2.721000	0.00882	-20.000000	0.00162	-0.812000	0.03057	0.000000	0.06391	0.000000	0.08366	0.375000	0.26223	0.0:0.1254:0.0:0.8746	17.031	0.86335	561	0.71236	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2066.98	136	chr9	35957935	.	C	T	2066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=1901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=1.66;SOR=0.728	GT:AD:DP:GQ:PL	0/1:61,75:136:99:2081,0,1338	20	0	1	0
chr9	36162372	36162372	G	A	exonic	GLIPR2	.	nonsynonymous SNV	GLIPR2:NM_001287012:exon3:c.G133A:p.G45S,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00499201	0.0017	0.0183	0.0011	0	0	0.0001	0	0	0.00163	252	154602	rs138682558	0.0006	0.0006	0.0006	0.0005	0.0160	0.0005	0.0005	0.0149	0.0144	0.0160	0.0012	0.0010	2.521e-05	0	0.0017	0.0001	0.0013	3.479e-05	0.0048	0.0048	0.0050	0.0047	0.0164	0.0045	0.0044	0.0153	0.0149	0.0164	0	0.0018	0.0009	0	0	0.0034	0.0002	0.0033	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.0025483668	0.00039	T	.	.	.	.	.	.	.	0.398133443147	0.39430	.	.	.	.	.	.	.	0.002643	0.02035	T	-0.633783	0.00091	T	-0.668882	0.07680	T	.	.	.	0.384762	0.09420	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02609	B	.	.	0.452209	0.08223	4.961	0.78105731342457518	0.12157	0.14002	0.18170	N	AEFDGBI	0.005372	0.00007	N	.	.	.	.	.	.	0.999999999999851	0.74766	0.730579	0.87903	0	0.670034	0.63936	0	0.749866	0.98131	0	0.631631	0.49550	0	.	.	5.84	-11.7	0.00035	0.129000	0.15656	-1.772000	0.04754	-0.785000	0.03297	0.908000	0.31627	0.000000	0.08366	0.942000	0.48361	0.1212:0.2587:0.3826:0.2374	3.156	0.06117	498	0.76166	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2231.98	185	chr9	36162372	.	G	A	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.445;DP=886;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=2.00;SOR=0.762	GT:AD:DP:GQ:PL	0/1:95,90:185:99:2246,0,2249	20	0	1	0
chr9	37422766	37422766	C	T	exonic	GRHPR	.	nonsynonymous SNV	GRHPR:NM_012203:exon1:c.C16T:p.L6F,	Hyperoxaluria, primary, type II, Autosomal recessive	.	6	1467	47	2	0	51	0.0170854	.	.	319209	GRHPR-related_disorder|not_provided|Primary_hyperoxaluria,_type_II	.|MedGen:C3661900|MONDO:MONDO:0009824,MedGen:C0268165,OMIM:260000,Orphanet:416,Orphanet:93599	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.289	B	0.216	B	0.251	N	0.807	D	1.245	L	-1.61	D	0.206	D	0.586	D	0.36	3.359	17.32	3.99	1.422	1.025	14.397	0.297	.	0.0012	0.00339457	0.0073	0	0.0040	0	0	0.0035	0.0032	0.0227	0.0026778	414	154602	rs147185003	0.0022	0.0023	0.0017	0.0027	0.0178	0.0022	0.0021	0.0171	0.0168	0.0002	0.0011	0.0062	5.206e-05	5.904e-05	0.0138	0.0011	0.0032	0.0178	0.0013	0.0013	0.0010	0.0016	0.0139	0.0012	0.0011	0.0112	0.0102	0.0001	0	0.0008	0.0075	0	9.416e-05	0.0034	0.0012	0.0024	0.0139	0.036	0.43393	D	0.066	0.44501	T	0.289	0.32288	B	0.216	0.37572	B	0.250520	0.15520	N	0.629307	0.807311	0.34592	D	2.87	0.83286	M	-2.46	0.88924	D	-1.54	0.37375	N	0.259	0.29313	0.206	0.86016	D	0.586	0.85131	D	10	0.0075918436	0.00173	T	.	.	.	0.297	0.61730	.	.	0.848972102546	0.84752	0.32708136172285335	0.32621	0.623661094439	0.56596	0.730651676655	0.71601	T	0.041163	0.25768	T	-0.259537	0.12954	T	-0.131303	0.60861	T	0.0973177600853822	0.12059	T	0.740126	0.35895	T	0.27287814	0.50357	0.19476983	0.43118	0.20975137	0.43252	0.15762869	0.36847	-5.73	0.43959	T	.	.	0.121	0.25034	B	.;.	.;.	2.962198	0.39448	21.0	0.99746080339010335	0.83852	0.92818	0.56620	D	ALL	0.729427	0.67714	D	-0.441273332406594	0.24037	1.295078	-0.374071940007045	0.25773	1.41939	0.999999999999998	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.99	0.45527	1.278000	0.32784	-0.042000	0.12656	-0.214000	0.08267	0.971000	0.34370	0.001000	0.17328	0.341000	0.25455	0.0:0.8509:0.1491:0.0	14.397	0.66586	711	0.56613	.;.	.	.	.	.	.	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	724.98	78	chr9	37422766	.	C	T	724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.530e-01;DP=767;ExcessHet=0.0000;FS=1.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-5.560e-01;SOR=0.968	GT:AD:DP:GQ:PL	0/1:45,33:78:99:739,0,1144	20	0	1	0
chr9	41997752	41997752	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon6:c.G743A:p.G248D,	.	.	484	1035	3	0	0	3	0.00144718	.	.	2840694	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201186150	0.0003	0.0003	0.0003	0.0003	0.0070	0.0003	0.0003	0.0051	0.0045	0	0.0005	0.0073	0	0	0.0070	0.0001	0.0007	0.0001	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	8.848e-05	6.704e-05	3.182e-05	0	0.0002	0.0079	0	0	0.0074	0.0002	0.0006	0	0.157	0.23997	T	0.361	0.23365	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.78	0.83737	D	-4.09	0.74821	D	0.388	0.42931	.	.	.	.	.	.	.	0.08796027	0.15099	T	.	.	.	.	.	.	.	0.561371282746	0.55799	0.6691868256479347	0.66856	.	.	0.662732899189	0.61800	T	0.417676	0.77025	T	0.255108	0.79076	D	0.128668	0.78804	D	.	.	.	0.770923	0.40135	T	0.09809833	0.23134	0.15527028	0.36405	0.09809833	0.23134	0.15527028	0.36404	-6.442	0.49836	T	.	.	0.128	0.31074	B	.;.;.;.;.	.;.;.;.;.	0.537169	0.09056	5.841	0.47415474220674952	0.03875	0.13653	0.17977	N	AEFI	.	.	.	.	.	.	.	.	.	2.1927600367109E-6	0.01202	0.294411	0.05044	0	0.063388	0.01293	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0882736	0.19981	1.71	1.71	0.23429	1.341000	0.33512	1.727000	0.28301	-2.082000	0.00402	0.796000	0.29669	0.923000	0.28366	0.004000	0.06068	0.0:1.0:0.0:0.0	9.078	0.35692	994	0.00715	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	175.02	37	chr9	41997752	.	C	T	175.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.53;DP=567;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.024;MQ=33.72;MQRankSum=0.849;QD=4.73;ReadPosRankSum=1.31;SOR=0.086	GT:AD:DP:GQ:PL	0/1:29,8:37:99:189,0,964	20	0	1	0
chr9	65737542	65737542	G	T	exonic	FOXD4L4	.	nonsynonymous SNV	FOXD4L4:NM_199244:exon1:c.G397T:p.G133C,	.	.	308	1197	17	0	0	17	0.00705102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.001	U	0.997	D	2.59	M	-3.73	D	0.769	D	0.871	D	0.331	2.352	13.82	0.598	0.655	4.372	7.222	0.673	0.456226025351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437499926	0.0014	0.0015	0.0011	0.0017	0.0114	0.0014	0.0014	0.0108	0.0106	0.0002	0.0005	0	0	1.876e-05	0.0027	0.0009	0.0015	0.0114	0.0007	0.0010	0.0006	0.0009	0.0088	0.0006	0.0006	0.0067	0.0059	0.0003	0	0.0002	0	0	0	0.0034	0.0008	0	0.0088	0.0	0.91255	D	0.017	0.60337	D	.	.	.	.	.	.	0.001285	0.39521	U	0.000000	0.999786	0.49076	D	.	.	.	-3.81	0.95728	D	-8.75	0.97713	D	0.466	0.50237	0.946	0.96330	D	0.903	0.96785	D	9	0.5792824	0.65757	D	0.890605	0.99171	D	.	.	0.776	0.90157	0.98616404326	0.98601	0.15124594949120573	0.15046	.	.	.	.	.	0.840183	0.96266	D	0.207293	0.74575	D	0.0599853	0.74243	D	0.978072681539966	0.72148	D	0.591441	0.21800	T	0.13472265	0.31292	0.13571535	0.32486	0.13472265	0.31292	0.13571535	0.32485	-10.777	0.78421	D	.	.	0.884	0.81709	P	.	.	5.653684	0.92827	33	0.99742190336864656	0.83555	0.97816	0.77344	D	AEFI	0.595395	0.58996	D	0.381350769216047	0.60412	4.229825	0.274059485475099	0.54028	3.569263	0.116742206888214	0.16785	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	2.18	0.26813	6.208000	0.72099	11.284000	0.91844	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	10.061	0.41446	994	0.00715	Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head 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	552.98	66	chr9	65737542	.	G	T	552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=932;ExcessHet=0.0000;FS=22.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=27.58;MQRankSum=0.665;QD=8.38;ReadPosRankSum=-8.940e-01;SOR=4.487	GT:AD:DP:GQ:PL	0/1:42,24:66:99:567,0,1096	20	0	1	0
chr9	66990174	66990174	G	T	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.C324A:p.H108Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs905444180	6.163e-06	8.893e-06	5.45e-06	6.884e-06	0.0002	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.399e-06	1.659e-05	1.16e-05	6.865e-06	1.318e-05	1.333e-05	0	1.52e-05	0	0	.	.	0	0	0	0	0	0	0	1.52e-05	0	0	.	.	.	0.193	0.28210	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.14338	.	.	.	.	.	.	.	0.11886829	0.22481	T	.	.	.	.	.	.	.	.	.	0.04970244512704096	0.04913	.	.	.	.	.	0.176313	0.52621	T	.	.	.	.	.	.	.	.	.	0.371663	0.08799	T	.	.	.	.	.	.	.	.	-3.182	0.12262	T	.	.	0.145	0.31906	B	.	.	-0.057221	0.03902	0.858	.	.	.	.	.	.	0.031355	0.03337	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.254000	0.08801	-3.202000	0.02975	0.240000	0.18237	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	476.98	107	chr9	66990174	.	G	T	476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.080e-01;DP=898;ExcessHet=0.0000;FS=18.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.96;MQRankSum=-4.000e-02;QD=4.46;ReadPosRankSum=0.361;SOR=0.085	GT:AD:DP:GQ:PL	0/1:77,30:107:99:491,0,1974	20	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.765	19.11	5.5	2.594	9.672	19.387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	772.26	67	chr9	86018822	.	G	C	772.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.944e+00;DP=1493;ExcessHet=2.5830;FS=140.242;InbreedingCoeff=-0.2308;MLEAC=6;MLEAF=0.158;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=1.32;SOR=10.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,16:67:99:0|1:86018822_G_C:175,0,1338:86018822	12	0	7	2
chr9	87707114	87707114	G	T	exonic	DAPK1	.	nonsynonymous SNV	DAPK1:NM_001288729:exon26:c.G4043T:p.G1348V	.	.	423	1082	17	0	0	17	0.00779459	.	.	751805	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.942	P	0.743	P	0.112	N	1.000	D	1.1	L	-0.27	T	-0.629	T	0.283	T	0.719	1.824	12.06	5.28	1.632	5.286	11.08	0.347	0.0207311267468	0.0008	0.000599042	0.0015	0.0001	0.0008	0	0	0.0016	0.0011	0.0038	0.0012742	197	154602	rs200514264	0.0009	0.0009	0.0008	0.0010	0.0041	0.0009	0.0009	0.0038	0.0036	8.961e-05	0.0005	0.0237	0	0	0.0012	0.0002	0.0023	0.0041	0.0007	0.0007	0.0008	0.0006	0.0019	0.0006	0.0006	0.0010	0.0007	7.224e-05	0	0.0003	0.0213	0	0	0	0.0003	0	0.0019	0.045	0.40832	D	0.009	0.66756	D	0.864	0.47514	P	0.743	0.55802	P	0.111944	0.19378	N	0.431882	1	0.81001	D	2.255	0.64187	M	-0.27	0.68181	T	-1.78	0.42001	N	0.339	0.50598	-0.6288	0.63622	T	0.283	0.65508	T	10	0.0066696703	0.00151	T	0.020731	0.43381	T	0.347	0.66863	.	.	0.857421745425	0.85604	0.5648824354393936	0.56415	0.531367912045	0.50637	0.381954789162	0.22533	T	0.249833	0.61985	T	-0.187504	0.22625	T	-0.0426333	0.67524	D	0.0772470739001699	0.09630	T	0.90321	0.66112	D	0.09096518	0.21301	0.11087199	0.26739	0.09096518	0.21301	0.11087199	0.26739	-4.194	0.28008	T	.	.	0.084	0.20469	B	.;.;.;.;.;.	.;.;.;.;.;.	3.896552	0.56728	23.8	0.98065498563405451	0.37983	0.99209	0.92840	D	AEFDBI	0.737505	0.68267	D	0.0746152147938147	0.45280	2.787252	0.0763741122150922	0.43364	2.639629	0.999999913876207	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.28	0.74118	6.330000	0.72881	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0666:0.1282:0.8052:0.0	11.08	0.47273	952	0.10565	Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;.;Death domain|Death domain|Death domain;Death domain|Death domain|Death 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	1481.98	123	chr9	87707114	.	G	T	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.067e+00;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.222e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,61:123:99:0|1:87707108_G_A:1496,0,1732:87707108	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	0/1:182,147:344:99:944,0,2442	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	2/4:2,0,34,0,26,0:62:99:2391,2303,2343,924,984,837,2303,2343,984,2343,1191,1275,0,1275,1188,2303,2343,984,2343,1275,2343	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	2/4:2,0,34,0,26,0:62:99:2391,2303,2343,924,984,837,2303,2343,984,2343,1191,1275,0,1275,1188,2303,2343,984,2343,1275,2343	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	2/4:2,0,34,0,26,0:62:99:2391,2303,2343,924,984,837,2303,2343,984,2343,1191,1275,0,1275,1188,2303,2343,984,2343,1275,2343	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	2/4:2,0,34,0,26,0:62:99:2391,2303,2343,924,984,837,2303,2343,984,2343,1191,1275,0,1275,1188,2303,2343,984,2343,1275,2343	1	2	3	0
chr9	96819529	96819529	C	A	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.G422T:p.R141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	.	.	1.000	P	-0.895	N	5.98	T	-0.932	T	0.004	T	0.327	-0.408	2.091	-4.0	-1.320	-0.145	3.225	0.041	0.000896652167863	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs4645656	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.08943	T	0.912	0.04825	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.445	0.00556	N	3.69	0.04114	T	2.37	0.00310	N	0.063	0.04668	-0.9319	0.43859	T	0.004	0.01330	T	8	0.033929974	0.01583	T	8.97E-4	0.00844	T	0.041	0.10877	0.524	0.62818	0.254244900254	0.25046	0.04433362831807223	0.04377	0.125945359065	0.14199	0.278184771538	0.07240	T	0.001582	0.01021	T	-0.264268	0.12404	T	-0.617379	0.11391	T	0.019273647166571	0.00633	T	0.0590941	0.00855	T	0.040805943	0.05892	0.041228253	0.04637	0.040805943	0.05892	0.041228253	0.04637	-2.08	0.03499	T	.	.	0.106	0.21578	B	.;.;.	.;.;.	-0.054531	0.03919	0.867	0.15256631057433792	0.00366	0.00002	0.00064	N	AEFGBHCI	0.015981	0.00332	N	-1.81364783500322	0.00512	0.02206136	-1.82350469604324	0.00687	0.03056922	0.0318755322217933	0.14025	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	3.38	-4.0	0.03787	0.300000	0.18911	-0.256000	0.10466	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1753:0.4618:0.0921:0.2708	3.225	0.06331	757	0.50970	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	8824.62	126	chr9	96819529	.	C	A,T	8824.62	.	AC=1,4;AF=0.024,0.095;AN=42;BaseQRankSum=2.56;DP=1311;ExcessHet=1.1607;FS=1.745;InbreedingCoeff=-0.1351;MLEAC=1,4;MLEAF=0.024,0.095;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-5.840e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/2:71,0,55:126:99:1512,1725,3676,0,1951,1786	16	0	1	0
chr9	97320140	97320140	C	G	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon11:c.C1094G:p.P365R	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	1.0	D	0.001	D	1.000	D	2.36	M	1.23	T	-0.893	T	0.068	T	0.681	2.115	13.03	4.87	2.619	2.291	14.219	0.250	.	0.0126	0.0131789	0.0035	0.0387	0.0017	0	0	5.994e-05	0.0011	0.0001	0.0033764	522	154602	rs61261278	0.0011	0.0011	0.0012	0.0009	0.0360	0.0010	0.0010	0.0343	0.0336	0.0360	0.0016	0	0	0	0.0009	9.353e-05	0.0025	0.0001	0.0097	0.0097	0.0106	0.0087	0.0333	0.0093	0.0091	0.0319	0.0313	0.0333	0	0.0035	0	0	0	0	0.0001	0.0118	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000838	0.41547	D	0.139512	0.972226	0.38930	D	.	.	.	1.23	0.36872	T	-6.9	0.93293	D	0.574	0.59648	-0.8931	0.48659	T	0.068	0.27845	T	10	0.0042665303	0.00085	T	.	.	.	0.250	0.55888	.	.	0.668895562322	0.66610	0.30165273345532084	0.30078	.	.	0.443944185972	0.31116	T	.	.	.	-0.275671	0.11131	T	-0.141599	0.59979	T	0.0536525708291464	0.06130	T	0.761624	0.38671	T	0.70147955	0.78137	0.6702592	0.80653	0.70147955	0.78138	0.6702592	0.80654	-10.335	0.75893	D	.	.	0.413	0.60291	A	.	.	4.145315	0.62139	24.4	0.98624964172202478	0.43825	0.85684	0.44843	D	AEFI	0.264226	0.38161	N	0.521190482005497	0.68343	5.204289	0.443092555704238	0.64273	4.678925	0.999956581609142	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.87	4.87	0.62877	2.330000	0.43544	5.880000	0.50633	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.632000	0.32210	0.0:1.0:0.0:0.0	14.219	0.65356	778	0.48011	Domain of unknown function DUF4455	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1643.98	161	chr9	97320140	.	C	G	1643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=836;ExcessHet=0.0000;FS=1.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-2.360e-01;SOR=0.736	GT:AD:DP:GQ:PL	0/1:88,73:161:99:1658,0,2087	20	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,16:16:49:.:.:691,691,691,49,49,0	2	0	1	0
chr9	98087897	98087897	G	T	exonic	TRIM14	.	nonsynonymous SNV	TRIM14:NM_014788:exon6:c.C902A:p.P301H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.053	B	0.02	B	0.521	N	1.000	N	-0.71	N	3.14	T	-1.052	T	0.041	T	0.157	0.369	6.005	3.29	2.079	4.177	10.030	0.101	0.120679381196	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1000371035	1.34e-05	1.847e-05	1.824e-05	8.511e-06	0.0003	8.57e-06	6.91e-06	0.0002	0.0001	0.0003	0.0001	0	0	0	0	0	5.092e-05	0	4.601e-05	4.597e-05	3.856e-05	5.381e-05	0.0002	2.11e-05	1.527e-05	7.891e-05	5.587e-05	0.0002	0	0	0	0	0	0	0	0	0	0.379	0.11227	T	0.364	0.16766	T	0.029	0.19866	B	0.014	0.16862	B	0.521104	0.11740	N	0.747059	1	0.08975	N	-1.11	0.00959	N	3.14	0.07920	T	0.87	0.01688	N	0.382	0.44666	-1.0524	0.13736	T	0.041	0.17827	T	10	0.11303225	0.21221	T	0.120679	0.80127	D	0.115	0.32236	0.489	0.57415	0.499535901811	0.49588	0.6237136442280238	0.62304	0.669939924948	0.59385	0.829588055611	0.86499	D	0.005547	0.05002	T	-0.441751	0.01263	T	-0.607893	0.12156	T	0.0236296828909058	0.01099	T	0.50185	0.15733	T	0.21939662	0.44470	0.10250563	0.24570	0.21939662	0.44470	0.10250563	0.24570	-6.227	0.48141	T	.	.	0.230	0.46250	B	.;.;.	.;.;.	2.175030	0.27721	17.56	0.88731170689541838	0.18209	0.53721	0.29440	D	AEFDBHCIJ	0.094500	0.19106	N	-0.291547351890874	0.29474	1.634774	-0.260947641800569	0.29396	1.646601	0.999999812302579	0.74766	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.71	0.69187	0	.	.	4.26	3.29	0.36801	3.004000	0.49200	10.622000	0.83495	0.516000	0.23499	0.165000	0.23867	1.000000	0.68203	0.042000	0.14466	0.0:0.0:0.6903:0.3097	10.030	0.41269	678	0.60190	SPRY-associated|B30.2/SPRY domain|SPRY-associated;SPRY-associated|B30.2/SPRY domain|SPRY-associated;SPRY-associated|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Uncertain significance	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	1302.98	91	chr9	98087897	.	G	T	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.284e+00;DP=825;ExcessHet=0.0000;FS=1.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.832;SOR=0.529	GT:AD:DP:GQ:PL	0/1:36,55:91:99:1317,0,845	20	0	1	0
chr9	98210833	98210833	A	C	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon2:c.T116G:p.L39R	.	.	424	1081	17	0	0	17	0.00780174	.	.	737268	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.983	D	0.822	P	0.000	D	1.000	D	2.125	M	2.79	T	-1.070	T	0.071	T	0.854	4.441	23.6	5.46	2.070	8.370	14.516	0.534	.	0.0012	0.00199681	0.0063	0	0	0	0	0.0057	0.0110	0.0102	0.0012096	187	154602	rs150561627	0.0014	0.0014	0.0011	0.0017	0.0095	0.0013	0.0013	0.0089	0.0087	0.0001	0.0006	0.0178	0	4.058e-05	0.0070	0.0005	0.0027	0.0095	0.0012	0.0012	0.0010	0.0013	0.0085	0.0010	0.0010	0.0064	0.0057	7.217e-05	0	0.0010	0.0153	0	0	0.0136	0.0009	0.0014	0.0085	0.005	0.91255	D	0.016	0.62352	D	0.972	0.60381	D	0.669	0.59150	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.095	0.87515	M	2.79	0.15964	T	-4.65	0.81107	D	0.884	0.90704	-1.0700	0.09413	T	0.071	0.28773	T	10	0.009061456	0.00205	T	.	.	.	0.534	0.80426	.	.	0.477065420593	0.47334	0.7347188407829627	0.73416	1.15701977148	0.79381	0.595735788345	0.52303	T	0.121065	0.44376	T	-0.136935	0.30378	T	0.0384869	0.72828	D	0.0981456533404676	0.12151	T	0.876912	0.59357	D	0.5908083	0.72195	0.59070086	0.76251	0.5908083	0.72196	0.59070086	0.76252	-15.668	0.97513	D	.	.	0.316	0.57211	B	.;.;.;.;.	.;.;.;.;.	4.623002	0.73422	26.0	0.99758748373494632	0.84851	0.99536	0.97188	D	AEFDBI	0.912455	0.87311	D	0.66987705853291	0.77659	6.717634	0.66773500774423	0.79940	7.189338	0.999999997936555	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.46	5.46	0.80021	8.358000	0.89989	11.142000	0.87100	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.516	0.67406	548	0.72362	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	824.98	68	chr9	98210833	.	A	C	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-4.900e-02;SOR=0.696	GT:AD:DP:GQ:PL	0/1:33,35:68:99:839,0,863	20	0	1	0
chr9	99054627	99054627	A	G	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon32:c.A3002G:p.K1001R,	.	.	422	1055	45	0	0	45	0.0208817	.	.	3210553	COL15A1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.993	D	0.978	D	0.000	D	0.999	D	1.5	L	1.56	T	-1.038	T	0.103	T	0.361	3.415	17.54	5.67	2.288	5.419	12.586	0.082	.	0.0058	0.0081869	0.0106	0.0014	0.0036	0.0002	0.0013	0.0095	0.0118	0.0341	0.0095988	1484	154602	rs35544077	0.0087	0.0087	0.0078	0.0095	0.0297	0.0085	0.0085	0.0288	0.0284	0.0010	0.0041	0.0262	7.559e-05	0.0011	0.0215	0.0075	0.0110	0.0297	0.0060	0.0060	0.0060	0.0060	0.0297	0.0057	0.0055	0.0257	0.0242	0.0013	0	0.0045	0.0254	0.0002	0.0010	0.0408	0.0077	0.0061	0.0297	0.089	0.32141	T	0.131	0.34596	T	0.993	0.65571	D	0.978	0.74104	D	0.000000	0.84330	D	0.051404	0.99859	0.45136	D	0.285	0.10073	N	1.56	0.29602	T	-1.18	0.30140	N	0.522	0.55193	-1.0376	0.18048	T	0.103	0.37894	T	10	0.007863045	0.00179	T	.	.	.	0.082	0.23913	.	.	.	.	0.2692407998404102	0.26837	0.369191664281	0.38448	0.616936087608	0.55296	T	0.142979	0.47885	T	-0.469727	0.00853	T	-0.424509	0.30559	T	0.0275378019383437	0.01620	T	0.884712	0.60854	D	0.1890465	0.40430	0.22869907	0.47919	0.1890465	0.40429	0.22869907	0.47918	-6.969	0.53807	T	.	.	0.182	0.39511	B	.;.	.;.	4.569001	0.72067	25.8	0.99826105706177104	0.90852	0.95609	0.65407	D	AEDBI	0.740387	0.68465	D	0.62286768409591	0.74624	6.164248	0.639144172956136	0.77805	6.750602	0.999999953136641	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	5.801000	0.68775	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.586	0.55769	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	10392.9	202	chr9	99054627	.	A	G	10392.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.56;DP=1172;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=19.68;ReadPosRankSum=0.300;SOR=0.689	GT:AD:DP:GQ:PL	1/1:0,202:202:99:6359,606,0	18	1	2	0
chr9	104694802	104694802	T	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.T381G:p.I127M,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.099	B	0.053	B	0.352	N	1.000	N	0.82	L	7.57	T	-0.977	T	0.001	T	0.19	-1.302	0.037	2.57	0.484	-0.751	8.26	0.008	.	.	0.00139776	0.0012	9.61e-05	8.637e-05	0.0151	0	4.495e-05	0	0.0006	0.0009961	154	154602	rs145961687	0.0004	0.0004	0.0004	0.0004	0.0091	0.0003	0.0003	0.0083	0.0080	5.974e-05	2.236e-05	0.0003	0.0091	1.872e-05	0.0009	7.644e-05	0.0003	0.0006	0.0005	0.0005	0.0005	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	2.405e-05	0	6.54e-05	0.0006	0.0122	0	0	2.94e-05	0.0005	0.0017	0.097	0.30943	T	0.223	0.25670	T	0.099	0.25639	B	0.053	0.25678	B	0.352431	0.13795	N	0.634263	1	0.08975	N	0.14	0.08730	N	7.57	0.00366	T	-0.24	0.10833	N	0.134	0.13055	-0.9770	0.35683	T	0.001	0.00188	T	10	0.0055148005	0.00122	T	.	.	.	0.008	0.00669	.	.	0.101711395817	0.09552	0.040797502088583945	0.04024	0.0261378392519	0.02667	0.180021569133	0.00094	T	0.001646	0.01075	T	-0.654041	0.00068	T	-0.699937	0.05829	T	0.0184980049822226	0.00566	T	0.119888	0.00926	T	0.08140499	0.18704	0.07149282	0.15317	0.08140499	0.18704	0.07149282	0.15316	-4.353	0.28914	T	.	.	0.074	0.05060	B	.;.	.;.	1.030447	0.14106	10.68	0.14321184457444314	0.00312	0.09327	0.15105	N	AEFDGI	0.091556	0.18544	N	-1.08299022590462	0.06956	0.3217421	-1.11684723541901	0.07378	0.358653	1.0271264249676E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	2.57	0.29928	-1.398000	0.02615	-2.992000	0.03160	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.0:0.0:0.2022:0.7978	8.26	0.30940	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1647.98	144	chr9	104694802	.	T	G	1647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.411e+00;DP=2077;ExcessHet=0.0000;FS=2.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.921;QD=11.44;ReadPosRankSum=0.307;SOR=0.532	GT:AD:DP:GQ:PL	0/1:79,65:144:99:1662,0,2243	20	0	1	0
chr9	109943033	109943033	A	G	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001037293:exon7:c.A748G:p.R250G	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.08	B	0.062	B	.	.	1.000	D	1.76	L	2.34	T	-1.106	T	0.041	T	0.455	1.241	10.04	3.69	1.113	2.189	9.046	0.066	0.00868137072056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	4.472e-05	1e-06	7.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	1.656e-05	2.319e-05	6.568e-06	6.566e-06	1.284e-05	0	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.156	0.30235	T	0.369	0.16570	T	0.08	0.24543	B	0.062	0.26930	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	2.34	0.16351	T	-1.25	0.35991	N	0.092	0.20395	-1.1062	0.03417	T	0.041	0.17785	T	9	0.15186334	0.28696	T	0.008681	0.22927	T	0.066	0.19193	.	.	0.210429274316	0.20668	0.21157411103910084	0.21073	0.306107796148	0.32911	.	.	.	0.044197	0.26739	T	-0.138692	0.30098	T	-0.436998	0.29145	T	0.234590073240593	0.22169	T	0.912409	0.68863	D	0.11709357	0.27609	0.14615516	0.34636	0.11709357	0.27608	0.14615516	0.34635	-1.712	0.02808	T	.	.	0.079	0.10256	B	.;.;.;.	.;.;.;.	2.551201	0.33023	19.22	0.98229605421114785	0.39378	0.97658	0.76213	D	AEFBI	0.596739	0.59079	D	-0.0963277030263976	0.37552	2.186452	0.0474944596366212	0.41952	2.529065	0.974919813655763	0.29586	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.16	3.69	0.41483	2.481000	0.44874	5.264000	0.48131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7462:0.1299:0.0:0.1239	9.046	0.35507	820	0.40914	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1830.98	173	chr9	109943033	.	A	G	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=881;ExcessHet=0.0000;FS=0.568;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=0.160;SOR=0.614	GT:AD:DP:GQ:PL	0/1:101,72:173:99:1845,0,2630	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|1:54,16:70:99:0|1:110137052_G_C:160,0,1804:110137052	6	0	8	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	D	0.802	D	1.445	L	0.85	T	-0.701	T	0.211	T	0.556	0.977	8.990	4.46	2.691	3.205	11.752	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	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	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:54,0,16:70:99:0|1:110137052_G_C:160,320,2170,0,1850,1804:110137052	10	0	2	4
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.989	D	0.000	D	0.555	D	1.79	L	0.82	T	-0.607	T	0.231	T	0.281	1.466	10.85	4.46	2.691	3.205	11.752	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:54,0,16:70:99:0|1:110137052_G_C:160,320,2170,0,1850,1804:110137052	10	0	2	4
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A,	.	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,47:301:99:0|1:122724732_T_C:1100,0,10494:122724732	2	0	12	7
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A,	.	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,36:290:99:0|1:122724732_T_C:747,0,10488:122724732	5	0	12	4
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,7,0:57:59:.:.:59,0,1249,175,1291,1458	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,14:63:68:.:.:68,0,1247	10	0	10	1
chr9	128258520	128258522	CCT	-	exonic	GOLGA2	.	nonframeshift deletion	GOLGA2:NM_001366246:exon21:c.2105_2107del:p.E703del	.	.	334	916	219	43	10	315	0.142723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6196.26	36	chr9	128258516	.	GCCTCCT	GCCT,G	6196.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.320e-01;DP=932;ExcessHet=1.7912;FS=2.196;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.432;SOR=0.574	GT:AD:DP:GQ:PL	0/1:20,16,0:36:99:601,0,783,661,831,1492	15	0	5	0
chr9	128332174	128332174	G	A	exonic	COQ4	.	nonsynonymous SNV	COQ4:NM_016035:exon5:c.G424A:p.A142T,	Coenzyme Q10 deficiency, primary, 7, Autosomal recessive	.	420	1061	38	3	0	44	0.0203139	.	.	370324	not_provided|not_specified|Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.57	T	0.982	D	0.767	P	0.001	D	0.506	N	1.905	M	0.88	T	-0.836	T	0.143	T	0.102	2.321	13.72	5.85	2.771	4.765	6.675	0.163	.	0.0025	0.0091853	0.0172	0.0019	0.0035	0.0006	0.0017	0.0106	0.0076	0.0416	0.0060543	936	154602	rs34043652	0.0057	0.0057	0.0048	0.0066	0.0331	0.0056	0.0055	0.0321	0.0317	0.0012	0.0016	0.0021	5.274e-05	0.0004	0.0148	0.0044	0.0055	0.0331	0.0037	0.0037	0.0033	0.0042	0.0334	0.0035	0.0033	0.0292	0.0276	0.0008	0	0.0024	0.0035	0	0.0003	0.0136	0.0045	0.0033	0.0334	0.449	0.09022	T	0.511	0.10785	T	0.982	0.60036	D	0.767	0.56720	P	0.000670	0.42516	D	0.267657	0.999905	0.19694	N	2.26	0.64354	M	0.88	0.46028	T	-1.28	0.32185	N	0.233	0.26233	-0.8356	0.52937	T	0.143	0.46459	T	10	0.007909	0.00179	T	.	.	.	0.163	0.42028	.	.	0.589665606642	0.58642	0.4398756359911274	0.43904	0.611868390324	0.55801	0.373806595802	0.21377	T	0.165191	0.51094	T	-0.558499	0.00259	T	-0.550647	0.17265	T	0.0325917881327479	0.02404	T	0.909609	0.68017	D	0.05415084	0.10350	0.077319644	0.17210	0.050297037	0.09065	0.06649144	0.13626	-4.972	0.36534	T	0.20917695901469	0.27996	0.101	0.17700	B	.	.	3.856571	0.55900	23.7	0.99394376498206649	0.62474	0.66322	0.33038	D	AEFDBCI	0.410087	0.48110	N	0.502736449469989	0.67250	5.056811	0.524640981072112	0.69652	5.391109	0.999945172294767	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.850000	0.62587	6.780000	0.56581	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.1447:0.1546:0.7007:0.0	6.675	0.22281	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	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	499.98	43	chr9	128332174	.	G	A	499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.472;DP=715;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.317;SOR=0.636	GT:AD:DP:GQ:PL	0/1:23,20:43:99:514,0,584	20	0	1	0
chr9	130384388	130384388	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon58:c.C8846T:p.A2949V,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs573657973	5.755e-05	4.583e-05	4.271e-05	7.302e-05	0.0012	4.641e-05	4.233e-05	0.0004	0.0002	0	0	0	0	0	0.0012	3.813e-05	0.0001	0.0003	3.942e-05	3.94e-05	5.138e-05	2.69e-05	8.819e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.31	0.19721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	0.046407163	0.03827	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.09922831805019339	0.09853	.	.	.	.	.	4.31E-4	0.00146	T	-0.299307	0.08725	T	-0.66771	0.07756	T	.	.	.	0.528347	0.17454	T	0.05851631	0.11782	0.23392433	0.48595	0.05851631	0.11782	0.23392433	0.48594	-3.514	0.16628	T	.	.	0.081	0.08033	B	.	.	1.813948	0.23053	15.87	0.83556855334068847	0.14791	0.15365	0.18876	N	AEFGBHCI	.	.	.	.	.	.	.	.	.	0.0736343500029375	0.15640	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.062806	0.01542	0	0.206616	0.30768	5.34	2.49	0.29274	-0.221000	0.09208	0.127000	0.14995	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.893000	0.43066	0.0:0.7384:0.0:0.2616	8.24	0.30814	416	0.81733	Immunoglobulin-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	0.02381	1811.98	164	chr9	130384388	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.760e-01;DP=980;ExcessHet=0.0000;FS=6.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-1.837e+00;SOR=1.184	GT:AD:DP:GQ:PL	0/1:85,79:164:99:1826,0,2079	20	0	1	0
chr9	130884406	130884406	G	A	exonic	ABL1	.	nonsynonymous SNV	ABL1:NM_005157:exon11:c.G2116A:p.G706S	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)	.	9	1489	24	0	0	24	0.00799467	.	.	137184	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.005	B	0.003	B	0.071	N	1.000	N	0.345	N	2.23	T	-0.953	T	0.012	T	0.09	-1.715	0.011	0.964	0.273	1.738	6.655	0.024	0.00271803552758	0.0017	0.00159744	0.0025	0.0005	0.0020	0	0.0007	0.0028	0.0012	0.0047	0.0023738	367	154602	rs143837301	0.0024	0.0024	0.0023	0.0025	0.0052	0.0023	0.0023	0.0038	0.0037	0.0010	0.0025	0.0093	2.52e-05	0.0016	0.0052	0.0022	0.0031	0.0042	0.0019	0.0019	0.0017	0.0022	0.0060	0.0017	0.0017	0.0043	0.0037	0.0008	0	0.0020	0.0084	0	0.0012	0	0.0023	0.0028	0.0060	1.0	0.00964	T	0.826	0.03783	T	0.001	0.07471	B	0.003	0.08700	B	0.070756	0.21518	N	0.559992	1	0.08975	N	-0.46	0.02758	N	2.23	0.18083	T	0.29	0.04306	N	0.089	0.06720	-0.9530	0.40450	T	0.012	0.04700	T	10	0.003545463	0.00064	T	0.002718	0.05608	T	0.024	0.04979	.	.	0.2338531098	0.23012	0.07570941552892904	0.07506	0.211731408611	0.23675	0.309524178505	0.11836	T	0.176391	0.52632	T	-0.655472	0.00067	T	-0.713364	0.05123	T	0.000612684359155937	0.00005	T	0.754325	0.37688	T	0.015586566	0.00147	0.026643824	0.00765	0.021350384	0.00732	0.029425928	0.01280	-3.723	0.19658	T	0.09321182960621102	0.06106	0.062	0.01348	B	.;.	.;.	0.257806	0.06365	2.829	0.6450848117780148	0.07513	0.17070	0.19676	N	AEFDBCI	0.067474	0.13265	N	-1.22014891431685	0.04708	0.213075	-1.16406645746914	0.06519	0.3140407	0.999985339090882	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.964	0.18774	1.755000	0.38008	1.555000	0.27319	-0.113000	0.14837	0.351000	0.25767	0.874000	0.27626	0.009000	0.08673	0.6306:0.0:0.3694:0.0	6.655	0.22173	671	0.60868	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	943.98	64	chr9	130884406	.	G	A	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=1.11;SOR=0.824	GT:AD:DP:GQ:PL	0/1:32,32:64:99:958,0,736	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	1/1:0,90,0:90:99:2756,270,0,2756,270,2756	0	17	3	0
chr9	133479040	133479040	C	T	exonic	SLC2A6	.	nonsynonymous SNV	SLC2A6:NM_001145099:exon1:c.G20A:p.G7E	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.421	B	0.116	B	0.931	N	0.838	N	0	N	-1.4	T	-0.629	T	0.432	T	0.305	3.014	16.05	3.4	1.830	1.214	12.825	0.229	0.700266463894	.	.	1.268e-05	0	0	0	0	0	0	7.983e-05	6.5e-06	1	154602	rs782192810	4.148e-06	4.104e-06	1.375e-06	6.949e-06	0.0002	1.49e-06	9.8e-07	1.598e-05	9.4e-06	0	0	0	0	0	0.0002	9.026e-07	0	4.705e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.13175	T	0.274	0.22084	T	0.275	0.35387	B	0.087	0.31939	B	0.930809	0.07534	N	1.040500	0.838043	0.28669	N	1.78	0.46185	L	-1.4	0.90083	T	-0.02	0.08187	N	0.373	0.41459	-0.6292	0.63605	T	0.432	0.77355	T	10	0.21115926	0.37535	T	0.700266	0.97546	D	0.229	0.52916	0.21	0.12781	0.830304406463	0.82869	0.7215502753063897	0.72099	0.438240894955	0.43858	0.787265658379	0.80027	T	0.00833	0.07654	T	0.0229976	0.54785	T	-0.204742	0.54198	T	0.233536579033325	0.22119	T	.	.	.	0.138665	0.32062	0.28702962	0.54713	0.138665	0.32062	0.28702962	0.54712	-5.41	0.41016	T	.	.	0.093	0.21541	B	.;.;.	.;.;.	3.615821	0.51140	23.1	0.98377555431162667	0.40822	0.38858	0.26083	N	ALL	0.188771	0.31604	N	-0.679695519429623	0.16601	0.8472733	-0.554407877183862	0.20689	1.115805	0.99999999997611	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.4	3.4	0.38031	2.265000	0.42968	5.535000	0.48855	0.444000	0.21144	0.862000	0.30648	0.993000	0.31925	0.780000	0.36908	0.0:1.0:0.0:0.0	12.825	0.57099	763	0.50172	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	509.98	38	chr9	133479040	.	C	T	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=700;ExcessHet=0.0000;FS=2.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-1.131e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/1:17,21:38:99:524,0,376	20	0	1	0
chr9	136496759	136496759	C	T	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon34:c.G6980A:p.R2327Q,	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	138695	NOTCH1-related_disorder|Adams-Oliver_syndrome_5|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided	.|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.963	D	0.439	B	0.000	D	1.000	D	0.55	N	-1.47	T	-0.548	T	0.311	T	0.398	2.740	15.12	4.54	1.432	5.888	13.209	0.339	0.0576501905196	0.0005	0.000599042	0.0002	0.0017	0.0003	0.0001	0	4.669e-05	0.0023	6.062e-05	0.0002329	36	154602	rs202065858	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0024	0.0023	0.0029	0.0003	0	5.038e-05	0	0.0019	6.745e-05	0.0004	1.159e-05	0.0008	0.0008	0.0008	0.0008	0.0025	0.0007	0.0006	0.0022	0.0020	0.0025	0	0.0003	0	0	0	0.0034	0.0001	0	0.0002	0.318	0.13654	T	0.34	0.18018	T	0.963	0.55692	D	0.439	0.45685	B	0.000006	0.62929	D	0.060874	0.999988	0.54805	D	1.04	0.26193	L	-1.47	0.81067	T	-1.11	0.28703	N	0.361	0.40264	-0.5482	0.66855	T	0.311	0.68094	T	10	0.02677077	0.00837	T	0.05765	0.67042	D	0.339	0.66106	.	.	0.702961445353	0.70038	.	.	0.941455926589	0.72221	0.515547037125	0.41000	T	0.325783	0.69647	T	-0.282572	0.10397	T	-0.191902	0.55411	T	0.0255703363200267	0.01348	T	0.891911	0.62748	D	0.12822743	0.29983	0.07509042	0.16496	0.12822743	0.29983	0.07509042	0.16495	-1.835	0.02616	T	.	.	.	.	.	.	.	2.676912	0.34910	19.76	0.99864282011705741	0.94276	0.98793	0.86927	D	AEFGBI	0.694016	0.65316	D	0.0731968881008788	0.45214	2.781809	0.0889410257084881	0.43991	2.689565	0.999998773954923	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.44	4.54	0.55220	4.868000	0.62716	3.878000	0.40224	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.040000	0.14268	0.0:0.9234:0.0:0.0766	13.209	0.59240	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	0	0	1	0	0.02381	1495.98	102	chr9	136496759	.	C	T	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.802;DP=853;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-7.450e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:45,57:102:99:1510,0,1039	20	0	1	0
chr9	136992935	136992935	T	C	exonic	PAXX	.	nonsynonymous SNV	PAXX:NM_001329678:exon3:c.T191C:p.F64S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.187	B	0.055	B	0.723	N	1.000	N	2.015	M	.	.	-0.946	T	0.090	T	0.506	1.133	9.617	-0.28	0.122	0.102	1.339	0.123	0.00858878084866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.24372	T	0.271	0.22291	T	0.187	0.29285	B	0.055	0.25995	B	0.723415	0.09915	N	0.859412	1	0.08975	N	.	.	.	.	.	.	-1.96	0.45404	N	0.166	0.17553	-0.9460	0.41648	T	0.090	0.34436	T	9	0.07450923	0.11398	T	0.008589	0.22705	T	0.123	0.34020	0.335	0.32329	0.290620346082	0.28682	0.5691093305285959	0.56838	0.322961452868	0.34468	.	.	.	0.036854	0.24261	T	-0.0263539	0.47944	T	-0.275632	0.47250	T	0.0848597847813787	0.10597	T	0.610439	0.23144	T	0.32890812	0.55382	0.17679209	0.40238	0.32890812	0.55382	0.17679209	0.40237	-3.2	0.12480	T	.	.	0.236	0.46983	B	.	.	2.105628	0.26793	17.24	0.94554465726488823	0.25073	0.10523	0.16006	N	ALL	0.126035	0.24280	N	-0.692552296045956	0.16233	0.8252204	-0.774158846732555	0.15130	0.7941744	0.999999969127982	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	4.24	-0.28	0.12248	-0.084000	0.11233	0.942000	0.22859	0.609000	0.47794	0.000000	0.06391	0.001000	0.17328	0.905000	0.44082	0.305:0.0948:0.1394:0.4607	1.339	0.02021	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	640.98	55	chr9	136992935	.	T	C	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.127e+00;DP=773;ExcessHet=0.0000;FS=3.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-8.840e-01;SOR=0.590	GT:AD:DP:GQ:PL	0/1:27,28:55:99:655,0,759	20	0	1	0
chr9	137253229	137253229	C	G	exonic	STPG3	.	nonsynonymous SNV	STPG3:NM_001004353:exon6:c.C911G:p.P304R	.	.	421	1086	14	1	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.389	N	1.000	N	.	.	-0.45	T	-0.366	T	0.453	T	.	2.917	15.72	4.44	2.299	2.375	12.433	0.387	0.349345909129	0.0002	0.000399361	0.0015	0.0002	0.0009	0	0	0.0004	0.0019	0.0077	0.0008538	132	154602	rs200714944	0.0006	0.0006	0.0004	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	0.0001	0.0002	0	2.535e-05	5.781e-05	0.0014	0.0002	0.0005	0.0077	0.0005	0.0005	0.0003	0.0006	0.0099	0.0004	0.0004	0.0077	0.0069	4.81e-05	0	0.0002	0	0	9.413e-05	0	0.0002	0.0009	0.0099	0.0	0.91255	D	0.0	0.92824	D	0.997	0.90584	D	0.936	0.75793	D	0.389029	0.13282	N	0.565465	1	0.81001	D	.	.	.	-0.45	0.69896	T	-7.66	0.95511	D	0.618	0.71321	-0.3660	0.73083	T	0.453	0.78621	T	9	0.020294905	0.00465	T	0.349346	0.92226	D	0.387	0.70358	.	.	0.839025879729	0.83748	.	.	.	.	.	.	.	0.175538	0.52516	T	-0.237474	0.15672	T	-0.110445	0.62575	T	0.128931111114548	0.15282	T	0.59504	0.22051	T	.	.	.	.	.	.	.	.	-12.128	0.85469	D	.	.	0.409	0.71844	A	.;.	.;.	3.512106	0.49190	22.7	0.99803232255767416	0.88817	0.65069	0.32615	D	AEFGBHCI	0.259508	0.37784	N	0.415924520764194	0.62296	4.443355	0.347242523318712	0.58343	4.004145	0.999999903214658	0.74766	0.554377	0.28877	0	0.624146	0.53433	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.44	4.44	0.53164	0.107000	0.15212	5.714000	0.49438	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.585000	0.31016	0.0:1.0:0.0:0.0	12.433	0.54919	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	0.02381	1025.98	113	chr9	137253229	.	C	G	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.267e+00;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=2.14;SOR=0.759	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1040,0,1567	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,30,0:63:99:.:.:593,0,788,691,878,1569	7	0	2	0
chr10	884449	884449	G	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon3:c.C139G:p.Q47E	.	.	.	.	.	.	.	.	.	0.0016	0.108	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.167	B	0.024	B	0.063	N	0.955	N	0.345	N	1.58	T	-1.066	T	0.042	T	0.506	0.266	5.436	4.12	2.596	3.560	12.181	0.096	0.00274479054501	.	.	5.798e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs763541857	2.918e-05	2.874e-05	9.699e-06	4.879e-05	0.0005	2.185e-05	1.938e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.315e-05	1.314e-05	0	2.691e-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	0.057	0.55530	T	0.925	0.03170	T	0.167	0.28604	B	0.024	0.20255	B	0.062524	0.22091	N	0.499928	0.954909	0.26353	N	2.125	0.59049	M	1.58	0.29085	T	-0.75	0.39503	N	0.308	0.34874	-1.0663	0.10246	T	0.042	0.18118	T	10	0.0711475	0.10449	T	0.002745	0.05665	T	0.096	0.27654	0.134	0.03833	0.372852800391	0.36900	0.12760135873839476	0.12686	0.120734834091	0.13598	0.394649773836	0.24322	T	0.02138	0.17437	T	-0.305495	0.08152	T	-0.354633	0.38673	T	0.0688165904033592	0.08484	T	0.772623	0.40374	T	0.11096976	0.26227	0.16299783	0.37834	0.11096976	0.26226	0.16299783	0.37834	-3.038	0.10596	T	.	.	0.064	0.09627	B	.;.;.;.	.;.;.;.	2.673036	0.34853	19.74	0.67026562325602368	0.08232	0.86845	0.46216	D	AEFBI	0.326749	0.42792	N	-0.105624539472162	0.37146	2.157048	0.0613129584681961	0.42622	2.581224	0.999223041160278	0.38808	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.12	4.12	0.47504	3.582000	0.53665	8.923000	0.78398	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	12.181	0.53519	561	0.71236	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	915.98	92	chr10	884449	.	G	C	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=788;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.102;SOR=0.911	GT:AD:DP:GQ:PL	0/1:49,43:92:99:930,0,1243	20	0	1	0
chr10	5096551	5096551	A	G	exonic	AKR1C3	.	nonsynonymous SNV	AKR1C3:NM_001253908:exon2:c.A226G:p.R76G	.	.	9	1508	4	1	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	4.055	H	-0.41	T	-0.015	T	0.549	D	0.776	3.672	18.66	0.709	0.174	2.295	6.038	0.574	.	.	0.00399361	0.0026	9.612e-05	8.652e-05	0	0	1.502e-05	0	0.0194	0.0012679	33	26028	rs370884375	0.0011	0.0011	0.0006	0.0017	0.0178	0.0011	0.0011	0.0171	0.0168	2.989e-05	2.236e-05	0	0.0002	0	0.0007	9.895e-06	0.0015	0.0178	0.0006	0.0006	0.0003	0.0009	0.0193	0.0005	0.0005	0.0161	0.0149	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0193	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000013	0.62929	D	0.000000	0.91807	0.81001	D	4.745	0.99558	H	-0.41	0.69413	T	-6.57	0.91912	D	0.872	0.86941	-0.0150	0.81943	T	0.549	0.83460	D	10	0.011538297	0.00252	T	.	.	.	0.574	0.82742	.	.	0.829090776401	0.82747	0.8314991922048894	0.83108	0.0817148320359	0.09202	0.453360050917	0.32402	T	0.148845	0.71376	T	-0.141279	0.29687	T	0.0392228	0.72877	D	0.291325500009389	0.24644	T	0.983302	0.94968	D	0.9430236	0.95555	0.8546188	0.91815	0.9430236	0.95556	0.8546188	0.91815	-12.722	0.88185	D	.	.	0.824	0.79091	P	.;.;.;.	.;.;.;.	3.805173	0.54855	23.5	0.98662321888138704	0.44345	0.81961	0.41265	D	AEFBCI	0.525749	0.54839	D	0.267788938815818	0.54523	3.617731	-0.0172486266619947	0.38936	2.301154	0.999998096679088	0.74766	0.608746	0.35421	0	0.573888	0.26702	0	0.658983	0.55881	0	0.605231	0.38476	0	.	.	2.0	0.709	0.17307	1.554000	0.35873	6.065000	0.53205	0.587000	0.30956	0.928000	0.32210	1.000000	0.68203	0.216000	0.22352	0.7357:0.2643:0.0:0.0	6.038	0.18944	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	3193.98	269	chr10	5096551	.	A	G	3193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.888e+00;DP=1197;ExcessHet=0.0000;FS=3.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.08;MQRankSum=-6.720e-01;QD=11.87;ReadPosRankSum=-4.450e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:138,131:269:99:3208,0,3733	20	0	1	0
chr10	7176091	7176091	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon17:c.G1883A:p.R628Q	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.843	P	0.119	B	0.000	N	0.996	N	-0.55	N	0.94	T	-1.018	T	0.029	T	0.115	0.447	6.427	3.96	0.791	2.757	8.875	0.116	0.00983821609349	.	.	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	1.29e-05	2	154602	rs777488992	9.577e-06	9.577e-06	6.806e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	0	0	2.519e-05	0	0.0002	8.993e-06	0	1.159e-05	1.315e-05	1.314e-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	0.984	0.01991	T	0.626	0.07292	T	0.843	0.46605	P	0.119	0.32162	B	0.000383	0.44960	N	0.212871	1	0.08975	N	-0.145	0.04423	N	0.94	0.43672	T	-0.26	0.11185	N	0.341	0.38438	-1.0180	0.24366	T	0.029	0.12453	T	10	0.1481933	0.28068	T	0.009838	0.25653	T	0.116	0.32463	0.391	0.41443	0.082315109003	0.07666	0.31424925016028793	0.31337	0.225021565053	0.25044	0.370731025934	0.20937	T	0.014531	0.12356	T	-0.393147	0.02566	T	-0.633376	0.10161	T	0.172640356818923	0.18758	T	0.855714	0.54342	D	0.024008572	0.01192	0.03745475	0.03401	0.024008572	0.01191	0.03745475	0.03400	-2.489	0.05707	T	.	.	0.072	0.04119	B	.;.	.;.	3.682938	0.52433	23.2	0.75893161625476957	0.11252	0.54058	0.29522	D	AEFDBI	0.143945	0.26678	N	-0.417558624353333	0.24853	1.344946	-0.304887056059175	0.27942	1.554077	0.970864693798234	0.29241	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.83	3.96	0.45097	2.223000	0.42578	4.053000	0.41524	0.599000	0.40250	0.967000	0.34061	0.999000	0.35428	0.984000	0.60418	0.0:0.7735:0.0:0.2265	8.875	0.34501	966	0.07191	SLED domain;SLED domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2099.98	154	chr10	7176091	.	C	T	2099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=847;ExcessHet=0.0000;FS=5.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=1.83;SOR=0.375	GT:AD:DP:GQ:PL	0/1:70,84:154:99:2114,0,1498	20	0	1	0
chr10	11869742	11869742	C	T	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon4:c.C644T:p.S215F,	.	.	433	1076	12	1	0	14	0.00646353	.	.	701203	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.200	N	1.000	N	1.585	L	2.94	T	-1.098	T	0.059	T	0.219	2.038	12.77	4.36	1.175	3.014	8.478	0.095	.	0.0013	0.000798722	0.0039	0.0007	0.0014	0	0	0.0055	0.0142	0.0030	0.0016171	250	154602	rs202165239	0.0019	0.0019	0.0018	0.0020	0.0141	0.0018	0.0018	0.0116	0.0107	0.0007	0.0015	0.0101	2.623e-05	0.0005	0.0141	0.0017	0.0030	0.0016	0.0015	0.0015	0.0016	0.0015	0.0020	0.0014	0.0013	0.0017	0.0016	0.0008	0	0.0014	0.0069	0	0.0002	0.0068	0.0020	0.0024	0.0017	0.003	0.78490	D	0.019	0.69154	D	1.0	0.90584	D	0.992	0.80445	D	0.199891	0.16627	N	0.577811	1	0.08975	N	1.935	0.51832	L	2.94	0.09728	T	-4.17	0.75456	D	0.363	0.40465	-1.0979	0.04354	T	0.059	0.24834	T	10	0.0041597784	0.00082	T	.	.	.	0.095	0.27398	.	.	0.235038932564	0.23097	0.5359679039050605	0.53521	0.563577242842	0.52783	0.45169839263	0.32176	T	0.161999	0.50924	T	-0.522592	0.00425	T	-0.528991	0.19387	T	0.0587870695192566	0.06975	T	0.678032	0.28700	T	0.11915857	0.28061	0.12752092	0.30696	0.11915857	0.28061	0.12752092	0.30695	-5.742	0.44066	T	.	.	0.18	0.44501	B	.;.;.	.;.;.	2.885363	0.38196	20.7	0.99623531757544137	0.75594	0.59199	0.30849	D	AEFBCI	0.144572	0.26757	N	0.0895070835867669	0.45974	2.845134	-0.0541702527094756	0.37310	2.18283	0.999990852442698	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.584781	0.30282	0	0.699875	0.68795	0	.	.	5.29	4.36	0.51643	3.377000	0.52156	3.797000	0.39853	0.465000	0.21702	0.189000	0.24175	0.995000	0.32472	0.007000	0.07825	0.0:0.7625:0.1562:0.0813	8.478	0.32186	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3458.11	130	chr10	11869742	.	C	T	3458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=1097;ExcessHet=0.1072;FS=0.896;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.458;SOR=0.761	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1796,0,1416	19	0	2	0
chr10	13288437	13288437	G	C	exonic	PHYH	.	nonsynonymous SNV	PHYH:NM_001037537:exon5:c.C301G:p.R101G	Refsum disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	314641	not_provided|Phytanic_acid_storage_disease	MedGen:C3661900|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.975	D	0.000	D	0.933	N	3.08	M	-2.57	D	0.306	D	0.806	D	0.816	2.015	12.69	-0.669	0.006	1.002	13.439	0.542	0.0993465961316	0.0012	0.000199681	0.0014	0.0004	8.648e-05	0	0.0020	0.0022	0.0011	0.0004	0.0013583	210	154602	rs143957922	0.0019	0.0019	0.0019	0.0018	0.0022	0.0018	0.0018	0.0022	0.0021	0.0001	2.236e-05	3.826e-05	0	0.0026	0.0002	0.0022	0.0015	0.0003	0.0010	0.0010	0.0011	0.0008	0.0018	0.0009	0.0008	0.0015	0.0014	0.0004	0	0	0	0	0.0011	0	0.0018	0	0.0002	0.017	0.63226	D	0.04	0.64786	D	0.999	0.77913	D	0.975	0.73362	D	0.000034	0.55875	D	0.150191	0.932771	0.27012	N	3.21	0.89262	M	-2.57	0.89692	D	-6.47	0.91479	D	0.664	0.67304	0.306	0.87650	D	0.806	0.93429	D	10	0.13469324	0.25633	T	0.099347	0.77093	D	0.542	0.80901	.	.	0.937124685867	0.93647	0.8031427869263197	0.80268	0.675857842876	0.59733	0.335208117962	0.15719	T	0.911004	0.98324	D	-0.0500336	0.44441	T	0.149496	0.80150	D	0.235261380672455	0.22200	T	0.916508	0.87416	D	0.9197376	0.93222	0.7451428	0.84936	0.9197376	0.93223	0.7451428	0.84937	-9.152	0.74252	D	0.688560875569417	0.76596	0.232	0.53285	B	.;.;.;.;.	.;.;.;.;.	2.664590	0.34721	19.71	0.99375788900548867	0.61671	0.63434	0.32088	D	AEFDGBHCI	0.513662	0.54136	D	0.0910732525180434	0.46047	2.85122	-0.133182562409188	0.34063	1.955179	0.999998133325347	0.74766	0.706298	0.61202	0	0.623108	0.53289	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.69	-0.669	0.10815	1.059000	0.30127	0.372000	0.17687	0.569000	0.28856	1.000000	0.71638	0.019000	0.20708	0.030000	0.13115	0.0:0.0884:0.4045:0.5071	13.439	0.60552	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	940.98	87	chr10	13288437	.	G	C	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=820;ExcessHet=0.0000;FS=1.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.490e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/1:47,40:87:99:955,0,1011	20	0	1	0
chr10	15531114	15531114	G	T	exonic	ITGA8	.	nonsynonymous SNV	ITGA8:NM_001291494:exon27:c.C2873A:p.S958Y	Renal hypodysplasia/aplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.995	D	0.925	D	0.000	D	1.000	D	2.61	M	0.7	T	-0.618	T	0.283	T	0.915	3.973	20.3	5.64	2.651	6.038	19.291	0.371	0.0322299829057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	1.0	0.01155	T	0.992	0.64738	D	0.844	0.60373	P	0.000001	0.84330	D	0.097385	0.999995	0.58761	D	2.995	0.85803	M	0.7	0.51474	T	-2.01	0.46337	N	0.815	0.81063	-0.6175	0.64092	T	0.283	0.65448	T	10	0.7597369	0.76254	D	0.03223	0.54110	D	0.371	0.69016	0.491	0.57732	0.749245134185	0.74698	0.7260352946655723	0.72547	0.364402611098	0.38057	0.59984010458	0.52882	T	0.249017	0.61891	T	0.250695	0.78665	D	0.122329	0.78389	D	0.986241459846497	0.77013	D	0.814918	0.46941	T	0.26229537	0.49291	0.25824144	0.51553	0.26229537	0.49290	0.25824144	0.51552	-7.871	0.60187	D	.	.	0.113	0.22171	B	.	.	4.477271	0.69822	25.4	0.99243928319909991	0.56630	0.95375	0.64475	D	AEFDI	0.844362	0.76133	D	0.600334295271863	0.73195	5.926809	0.607100491474067	0.75454	6.313436	0.931037545947649	0.27032	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	5.64	0.86480	6.476000	0.73497	8.589000	0.77679	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.291	0.94089	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	730.98	61	chr10	15531114	.	G	T	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e-01;DP=877;ExcessHet=0.0000;FS=5.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-5.200e-01;SOR=1.414	GT:AD:DP:GQ:PL	0/1:30,31:61:99:745,0,729	20	0	1	0
chr10	16593447	16593447	T	G	exonic	RSU1	.	nonsynonymous SNV	RSU1:NM_152724:exon8:c.A622C:p.N208H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.556	P	0.123	B	0.000	D	1.000	D	1.04	L	1.15	T	-1.090	T	0.072	T	0.342	3.388	17.43	6.08	2.333	5.937	16.644	0.067	0.00894991996921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.109	0.37449	T	0.556	0.38244	P	0.123	0.32463	B	0.000000	0.84330	D	0.000000	0.999787	0.49076	D	.	.	.	1.15	0.38236	T	-1.47	0.35991	N	0.432	0.47115	-1.0897	0.05582	T	0.072	0.29387	T	10	0.25111157	0.42446	T	0.00895	0.23583	T	0.067	0.19503	0.206	0.12216	0.55350970329	0.55009	0.3988290434311711	0.39797	0.442136844735	0.44188	0.773657083511	0.77971	T	0.049637	0.28365	T	-0.0941017	0.37397	T	-0.372947	0.36543	T	0.94280993938446	0.61735	D	0.918608	0.72230	D	0.1889534	0.40415	0.1921554	0.42714	0.1889534	0.40415	0.1921554	0.42713	-4.919	0.35948	T	.	.	0.095	0.21728	B	.;.;.	.;.;.	3.414736	0.47383	22.4	0.98943336898535994	0.48978	0.97626	0.75993	D	AEFBI	0.827708	0.74694	D	0.25288081946989	0.53780	3.545641	0.409201001555154	0.62136	4.424235	0.999987901289304	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	5.916000	0.69712	7.808000	0.69345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.644	0.85012	908	0.22609	.;.;.	.	.	.	.	.	Uncertain significance	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	1810.98	161	chr10	16593447	.	T	G	1810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-01;DP=864;ExcessHet=0.0000;FS=4.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-2.930e-01;SOR=0.440	GT:AD:DP:GQ:PL	0/1:85,76:161:99:1825,0,2198	20	0	1	0
chr10	17752402	17752402	A	G	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon1:c.A107G:p.Q36R,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.102	B	0.022	B	0.712	N	1.000	N	1.725	L	-0.44	T	-0.930	T	0.229	T	0.221	-1.480	0.018	4.03	0.802	0.858	9.094	0.038	0.00452415281551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288316094	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.443	0.09182	T	0.522	0.10391	T	0.102	0.25827	B	0.022	0.19653	B	0.711734	0.06262	N	1.167020	1	0.08975	N	.	.	.	-0.44	0.69777	T	-1.31	0.32791	N	0.085	0.06190	-0.9304	0.44080	T	0.229	0.59409	T	10	0.05070117	0.04842	T	0.016803	0.38225	T	0.113	0.31778	0.198	0.11110	0.0297737177859	0.01360	0.22603993550418636	0.22518	.	.	0.300869077444	0.10531	T	0.009897	0.08979	T	-0.146145	0.28916	T	-0.447704	0.27950	T	0.0958035731508614	0.11889	T	0.334567	0.07109	T	0.047329824	0.08072	0.12863557	0.30945	0.047329824	0.08071	0.12863557	0.30945	-2.978	0.09946	T	.	.	0.074	0.05060	B	.	.	0.543440	0.09120	5.903	0.3161579837061802	0.01791	0.02827	0.07567	N	AEFGI	0.037322	0.05114	N	-0.773230983811093	0.14011	0.694505	-0.790007065739715	0.14739	0.7717513	3.66552193936269E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	4.03	0.46115	1.040000	0.29888	3.302000	0.37391	0.743000	0.86499	0.000000	0.06391	0.429000	0.24846	0.134000	0.19723	0.8147:0.1853:0.0:0.0	9.094	0.35789	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	0	0	0	0	0.02381	1627.98	226	chr10	17752402	.	A	G	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.421e+00;DP=940;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.20;ReadPosRankSum=0.740;SOR=0.615	GT:AD:DP:GQ:PL	0/1:143,83:226:99:1642,0,3669	20	0	1	0
chr10	17796275	17796275	C	T	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon4:c.C827T:p.S276F,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	.	.	.	.	1.98	T	-0.743	T	0.129	T	0.801	3.708	18.83	3.58	2.032	5.726	11.007	0.360	0.0127811636741	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1032686581	0.0081	0.0080	0.0082	0.0079	0.0090	0.0079	0.0079	0.0089	0.0088	0.0012	0.0027	0.0069	0	0.0168	0.0078	0.0090	0.0063	0.0005	0.0061	0.0062	0.0062	0.0061	0.0079	0.0058	0.0057	0.0074	0.0072	0.0020	0.0088	0.0066	0.0089	0	0.0143	0.0068	0.0079	0.0076	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	1.98	0.21865	T	-5.3	0.84387	D	0.863	0.85979	-0.9044	0.47515	T	0.135	0.45049	T	10	0.0064267516	0.00146	T	0.01811	0.40062	T	0.360	0.68052	0.412	0.44887	0.134241683229	0.13084	0.8618846767854208	0.86152	.	.	0.557874679565	0.46968	T	0.299903	0.67241	T	-0.140782	0.29765	T	0.0353877	0.72628	D	0.206580402657604	0.20774	T	0.807619	0.45757	T	0.31536904	0.54246	0.2448966	0.49966	0.31536904	0.54246	0.2448966	0.49965	-6.078	0.46927	T	.	.	0.948	0.86730	P	.	.	4.763976	0.77051	26.6	0.99814155303396856	0.89797	0.93471	0.58306	D	AEFI	0.506977	0.53747	D	0.58684859884875	0.72353	5.792355	0.491612550656603	0.67432	5.083384	0.790886323968656	0.24013	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	5.996000	0.70309	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	12.915	0.57594	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5117.11	203	chr10	17796275	.	C	T	5117.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.87;DP=1132;ExcessHet=0.1072;FS=4.056;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.386e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/1:105,98:203:99:2539,0,2602	19	0	2	0
chr10	21517091	21517093	GGC	-	exonic	SKIDA1	.	nonframeshift deletion	SKIDA1:NM_207371:exon4:c.730_732del:p.A244del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	0	0	.	0	3.84e-05	1	26028	rs761568410	0.0024	0.0056	0.0019	0.0029	0.0193	0.0023	0.0023	0.0138	0.0120	0.0012	0.0193	0.0017	0.0066	0.0185	0.0018	0.0022	0.0034	0.0014	0.0009	0.0010	0.0009	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	0.0006	0	0.0006	0	0.0003	0	0.0098	0.0012	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	48.94	9	chr10	21517090	.	AGGC	A	48.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.242e+00;DP=450;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.44;ReadPosRankSum=0.921;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:21517090_AGGC_A:63,0,275:21517090	20	0	1	0
chr10	23267212	23267212	C	A	exonic	C10orf67	.	nonsynonymous SNV	C10orf67:NM_001365862:exon9:c.G1021T:p.G341C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.308	N	1.000	N	.	.	.	.	-0.977	T	0.103	T	0.083	0.773	8.085	1.87	0.529	1.709	5.284	0.122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.549e-06	7.952e-06	0	6.576e-06	2.9e-05	5.9e-07	2.2e-07	.	.	0	2.9e-05	0	0	0	0	0	3.265e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.045	0.49390	D	.	.	.	.	.	.	0.308155	0.03997	N	1.496520	.	.	.	.	.	.	.	.	.	-1.04	0.27259	N	.	.	-0.9770	0.35683	T	0.103	0.37894	T	6	0.096079886	0.17209	T	.	.	.	0.122	0.33800	0.169	0.07419	0.112648838833	0.10856	.	.	.	.	.	.	.	0.003095	0.02494	T	-0.273208	0.11401	T	-0.630221	0.10399	T	0.3108811378479	0.25450	T	0.425957	0.11436	T	0.109117456	0.25798	0.06268047	0.12302	0.109117456	0.25798	0.06268047	0.12301	-5.14	0.38326	T	.	.	0.182	0.39545	B	.;.	.;.	2.600296	0.33751	19.43	0.91667992743866422	0.20958	0.09257	0.15049	N	AEFI	0.067645	0.13307	N	-0.473692469825267	0.22945	1.228731	-0.633100961276522	0.18645	0.9969327	2.01752958115187E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.83	1.87	0.24559	1.718000	0.37622	3.126000	0.36421	0.549000	0.26987	0.002000	0.15269	0.062000	0.22056	0.003000	0.05239	0.0:0.7163:0.0:0.2837	5.284	0.15000	780	0.47616	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	839.98	90	chr10	23267212	.	C	A	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=838;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.861;SOR=0.908	GT:AD:DP:GQ:PL	0/1:53,37:90:99:854,0,1265	20	0	1	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H	.	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.395	M	0.67	T	-0.416	T	0.263	T	0.84	4.670	25.8	5.37	2.522	9.040	19.094	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1744.98	157	chr10	24473904	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=886;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=1.82;SOR=0.784	GT:AD:DP:GQ:PL	0/1:92,65:157:99:1759,0,2336	20	0	1	0
chr10	24545915	24545915	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001321681:exon14:c.G2777A:p.S926N	.	.	.	.	.	.	.	.	.	.	.	3455648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.536	P	0.14	B	0.000	D	1.000	D	1.21	L	1.56	T	-1.066	T	0.077	T	0.226	3.016	16.06	5.53	2.598	4.977	8.718	0.053	0.00633158486962	.	0.000199681	3.296e-05	0	0	0	0	2.998e-05	0	0.0001	3.23e-05	5	154602	rs545180311	2.189e-05	2.189e-05	1.361e-05	3.025e-05	0.0007	1.584e-05	1.356e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.892e-06	9.934e-05	0.0001	1.971e-05	1.969e-05	2.571e-05	1.344e-05	0.0004	5.24e-06	2.45e-06	7.31e-05	3.036e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.077	0.91255	T	0.134	0.47097	T	0.084	0.37531	B	0.037	0.30313	B	0.000135	0.49741	D	0.199757	1	0.81001	D	1.555	0.39373	L	1.3	0.38556	T	-1.3	0.32590	N	0.126	0.11912	-1.0662	0.10269	T	0.077	0.30737	T	10	0.08233681	0.13579	T	0.006332	0.16639	T	0.053	0.14996	0.153	0.05648	0.575946966538	0.57263	0.3218137895592589	0.32094	0.547987055301	0.51764	0.485706955194	0.36844	T	0.127453	0.45448	T	-0.257768	0.13163	T	-0.405388	0.32757	T	0.405718564987183	0.29157	T	0.89581	0.67793	D	0.095315605	0.22428	0.10007328	0.23916	0.095315605	0.22428	0.10007328	0.23916	-5.825	0.45588	T	.	.	0.189	0.50736	B	.;.;.;.;.	.;.;.;.;.	4.162845	0.62525	24.5	0.99543315951470945	0.70648	0.90347	0.51450	D	AEFBCI	0.722066	0.67211	D	0.163979913700464	0.49476	3.147531	0.32638132038902	0.57095	3.874157	0.998078315416526	0.36393	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	5.075000	0.64235	9.792000	0.81650	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0827:0.2011:0.7162:0.0	8.718	0.33582	941	0.13089	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1907.98	174	chr10	24545915	.	G	A	1907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=901;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-7.610e-01;SOR=0.769	GT:AD:DP:GQ:PL	0/1:102,72:174:99:1922,0,2752	20	0	1	0
chr10	26567171	26567171	C	T	exonic	APBB1IP	.	nonsynonymous SNV	APBB1IP:NM_019043:exon15:c.C1684T:p.P562S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.629	P	0.18	B	0.413	N	1.000	N	2.36	M	1.46	T	-0.969	T	0.085	T	0.243	2.237	13.44	2.67	1.094	0.122	10.184	0.114	0.172833222277	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177941423	4.728e-06	1.095e-05	1.55e-06	8.016e-06	4.482e-05	1.7e-06	1.12e-06	1.19e-05	6.3e-06	0	0	0	0	0	0	1.95e-06	1.924e-05	4.482e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.092	0.39954	T	0.629	0.40170	P	0.18	0.35854	B	0.412779	0.04601	N	1.369210	0.999999	0.08975	N	2.645	0.77386	M	1.46	0.32238	T	-2.96	0.61722	D	0.129	0.12341	-0.9686	0.37489	T	0.085	0.33043	T	10	0.14553428	0.27605	T	0.172833	0.84970	D	0.114	0.32008	0.398	0.42590	0.492666920005	0.48899	0.17324054997876093	0.17244	1.03979840505	0.75756	0.742214620113	0.73299	T	0.154299	0.49553	T	-0.202229	0.20483	T	-0.528264	0.19461	T	0.614915549755096	0.36999	D	0.442656	0.12286	T	0.07667688	0.17355	0.08458003	0.19466	0.07667688	0.17355	0.08458003	0.19466	-4.88	0.35509	T	.	.	0.084	0.09578	B	.	.	1.614045	0.20623	14.83	0.99353259876929267	0.60697	0.08084	0.14055	N	AEFDBCI	0.107727	0.21453	N	-0.652126553131651	0.17399	0.8949553	-0.778073534526349	0.15033	0.7885858	0.97793915068463	0.29870	0.651	0.46895	0	0.708844	0.79440	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.58	2.67	0.30756	0.077000	0.14593	2.219000	0.31434	0.279000	0.18609	0.000000	0.06391	0.038000	0.21505	0.045000	0.14751	0.0:0.8973:0.0:0.1027	10.184	0.42160	638	0.64280	.	.	.	.	.	.	Uncertain significance	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	595.98	39	chr10	26567171	.	C	T	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.977;DP=663;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=-2.228e+00;SOR=0.824	GT:AD:DP:GQ:PL	0/1:14,25:39:99:610,0,258	20	0	1	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V	.	.	.	.	.	.	.	.	.	.	.	1077011	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.783	P	0.205	B	0.000	N	0.924	D	1.525	L	2.37	T	-1.052	T	0.061	T	0.145	0.694	7.706	2.04	0.446	-0.091	9.973	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	70.44	105	chr10	27204498	.	T	C	70.44	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.544e+00;DP=945;ExcessHet=0.3300;FS=154.535;InbreedingCoeff=-0.0739;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.26;ReadPosRankSum=2.03;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,16:105:37:0|1:27204498_T_C:37,0,2767:27204498	18	0	3	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.165	13.20	3.2	1.510	3.070	10.264	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,31,0,0:121:99:0|1:50104141_G_C:151,0,2626,418,2713,3131,418,2713,3131,3131:50104141	4	0	2	12
chr10	50104143	50104143	G	T	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737T:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	0.992	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.225	13.40	3.2	1.510	3.070	10.264	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.707e-07	6.36e-06	0	1.541e-06	1.03e-06	0	0	.	.	0	0	0	0	0	0	1.03e-06	0	0	0	1.327e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.101569474	0.18565	T	0.007221	0.19143	T	0.052	0.14661	0.155	0.05858	0.043077524339	0.03247	0.022149028868026752	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.0239667	0.48286	T	-0.272203	0.47596	T	0.882602095603943	0.53273	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.651825	0.92816	33	0.99780184817050044	0.86693	0.87410	0.46941	D	AEFI	0.330757	0.43070	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,31,0,0:121:99:0|1:50104141_G_C:151,0,2626,418,2713,3131,418,2713,3131,3131:50104141	4	0	2	12
chr10	67922984	67922984	G	A	exonic	HERC4	.	nonsynonymous SNV	HERC4:NM_001278186:exon23:c.C2332T:p.R778C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.306	B	0.112	B	0.000	D	1.000	D	3.075	M	0.24	T	-0.468	T	0.272	T	0.484	2.104	12.99	5.49	2.733	2.831	14.493	0.345	0.0310287728182	0.0004	0.000199681	9.904e-05	0.0009	0	0.0001	0	3.002e-05	0	0	8.41e-05	13	154602	rs200134764	8.69e-05	8.756e-05	9.668e-05	7.702e-05	0.0011	7.423e-05	6.971e-05	0.0008	0.0007	0.0011	4.473e-05	0	0.0002	0	0	6.297e-05	0.0001	3.479e-05	0.0003	0.0003	0.0003	0.0004	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	6.539e-05	0	0.0002	0	0	5.88e-05	0.0005	0	0.008	0.58626	D	0.005	0.74150	D	0.261	0.32693	B	0.073	0.31615	B	0.000132	0.49741	D	0.181219	0.999999	0.58761	D	2.9	0.83903	M	0.24	0.59583	T	-5.44	0.85397	D	0.244	0.34981	-0.4676	0.69809	T	0.272	0.64391	T	10	0.08995542	0.15630	T	0.031029	0.53207	D	0.345	0.66676	.	.	0.41495530826	0.41114	0.7407136888186333	0.74016	1.10321080165	0.77791	0.480778992176	0.36164	T	0.389231	0.74971	T	-0.265162	0.12302	T	-0.210011	0.53696	T	0.180975981011275	0.19296	T	0.90401	0.66351	D	0.2449168	0.47445	0.29574567	0.55607	0.2449168	0.47445	0.29574567	0.55606	-9.072	0.69739	D	.	.	0.093	0.43269	B	.;.;.;.	.;.;.;.	4.536423	0.71268	25.6	0.98955379795299481	0.49227	0.91495	0.53651	D	AEFGBI	0.420283	0.48717	N	0.310556675301073	0.56689	3.834128	0.404039225498257	0.61817	4.387171	0.996474270804271	0.34770	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	2.880000	0.48228	8.600000	0.77723	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8184:0.1815	14.493	0.67244	913	0.21160	.;.;HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT 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	370.98	71	chr10	67922984	.	G	A	370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.23;ReadPosRankSum=0.233;SOR=0.807	GT:AD:DP:GQ:PL	0/1:50,21:71:99:385,0,1201	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	1/1:0,95,0:95:99:.:.:2809,285,0,2809,285,2809	11	2	6	0
chr10	89751441	89751441	A	C	exonic	KIF20B	.	nonsynonymous SNV	KIF20B:NM_001382506:exon23:c.A3979C:p.K1327Q	.	.	444	1071	7	0	0	7	0.00325733	.	.	2213983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.525	P	0.116	B	0.009	N	1.000	N	1.59	L	-0.66	T	-0.838	T	0.213	T	0.105	2.343	13.79	4.45	1.019	4.127	13.231	0.105	0.0407118285257	0.0003	0.000399361	0.0001	0	0.0003	0	0	8.992e-05	0	0.0005	0.0001294	20	154602	rs139452485	0.0002	0.0002	0.0001	0.0002	0.0010	0.0002	0.0001	0.0007	0.0006	3.002e-05	4.561e-05	0	0	0	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0001	0.0001	0.0002	6.511e-05	5.322e-05	9.06e-05	7.021e-05	0	0	0.0001	0.0003	0	0	0	0.0002	0.0005	0.0002	0.204	0.20381	T	0.161	0.31326	T	0.525	0.37610	P	0.116	0.31939	B	0.009108	0.30512	N	0.231146	0.999962	0.18878	N	1.81	0.47622	L	-0.66	0.72678	T	-1.11	0.28703	N	0.327	0.36779	-0.8378	0.52793	T	0.213	0.57334	T	10	0.028277546	0.00962	T	0.040712	0.59531	D	0.105	0.29889	.	.	0.668764436645	0.66597	0.39320674319083626	0.39235	0.157087435571	0.17741	0.469506591558	0.34612	T	0.027923	0.20342	T	-0.35895	0.04189	T	-0.406212	0.32662	T	0.0738092213869095	0.09176	T	0.691131	0.32570	T	0.1516571	0.34465	0.083652854	0.19188	0.1516571	0.34465	0.083652854	0.19187	-9.491	0.70840	D	.	.	0.135	0.35098	B	.;.	.;.	3.791898	0.54583	23.5	0.99004997461569999	0.50231	0.90031	0.50896	D	AEFDBI	0.234632	0.35736	N	-0.0876901008671605	0.37932	2.214059	-0.0227146737342411	0.38690	2.283162	0.614134452692741	0.21828	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.61	4.45	0.53365	3.563000	0.53529	3.880000	0.40234	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.968000	0.53726	0.6649:0.3351:0.0:0.0	13.231	0.59370	622	0.65860	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	852.98	81	chr10	89751441	.	A	C	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-02;DP=769;ExcessHet=0.0000;FS=2.944;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.723;SOR=0.711	GT:AD:DP:GQ:PL	0/1:42,39:81:99:867,0,958	20	0	1	0
chr10	96158745	96158745	G	T	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.G2423T:p.G808V	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00179712	0.0027	0.0001	0.0006	0	0.0065	0.0033	0.0045	0.0026	0.0024967	386	154602	rs138441796	0.0024	0.0024	0.0023	0.0025	0.0040	0.0024	0.0023	0.0027	0.0023	0.0002	0.0009	0.0043	2.52e-05	0.0057	0.0040	0.0024	0.0023	0.0024	0.0023	0.0023	0.0025	0.0021	0.0037	0.0021	0.0020	0.0034	0.0032	0.0002	0	0.0009	0.0040	0	0.0041	0	0.0037	0.0019	0.0023	.	.	.	0.538	0.09829	T	0.309	0.32767	B	0.054	0.25828	B	.	.	.	.	.	.	.	1.01	0.25309	L	.	.	.	.	.	.	0.11	0.14054	.	.	.	.	.	.	.	0.0036990643	0.00068	T	.	.	.	.	.	.	.	0.461058313273	0.45730	0.06385146694429807	0.06324	.	.	0.199216067791	0.00434	T	0.006909	0.06335	T	-0.391859	0.02616	T	-0.33179	0.41270	T	.	.	.	0.29517	0.05454	T	0.03695983	0.04647	0.074916065	0.16438	0.03695983	0.04647	0.074916065	0.16438	-2.602	0.06519	T	.	.	0.091	0.13127	B	.;.;.	.;.;.	-0.115361	0.03552	0.682	0.59347568091884517	0.06203	0.09979	0.15608	N	AEFBI	.	.	.	.	.	.	.	.	.	1.31057826950866E-4	0.05386	0.163922	0.03765	0	0.156173	0.03658	0	0.17184	0.04098	0	0.24341	0.04801	0	0.0489367	0.08445	5.65	-1.69	0.07747	-0.058000	0.11707	0.210000	0.15951	-0.116000	0.14526	0.000000	0.06391	0.001000	0.17328	0.145000	0.20128	0.5088:0.1252:0.366:0.0	6.598	0.21877	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2181.98	136	chr10	96158745	.	G	T	2181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.200e-02;DP=945;ExcessHet=0.0000;FS=6.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.04;ReadPosRankSum=0.033;SOR=0.781	GT:AD:DP:GQ:PL	0/1:57,79:136:99:2196,0,1504	20	0	1	0
chr10	98383842	98383842	G	A	exonic	PYROXD2	.	stopgain	PYROXD2:NM_032709:exon16:c.C1702T:p.R568X,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.796	36	3.46	0.584	3.755	13.950	.	.	7.7e-05	0.00279553	0.0014	0	8.637e-05	0.0001	0	0.0001	0	0.0099	0.0012225	189	154602	rs148254477	0.0007	0.0007	0.0003	0.0010	0.0103	0.0006	0.0006	0.0097	0.0095	5.974e-05	0	0	2.519e-05	0	0	4.496e-05	0.0004	0.0103	0.0004	0.0004	0.0003	0.0005	0.0108	0.0003	0.0003	0.0085	0.0076	2.417e-05	0	0	0	0	0	0	0.0001	0.0005	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	0.000002	0.62929	D	0.106936	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255519	0.79115	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.553060	0.99064	41	0.99667045204806681	0.78330	0.88085	0.47861	D	AEFDBI	0.148358	0.27223	N	0.600717636104709	0.73219	5.930733	0.441555175455663	0.64176	4.666909	0.999627731903408	0.41093	0.653281	0.48532	0	0.633656	0.55848	0	0.616094	0.41390	0	0.669	0.65921	0	.	.	5.39	3.46	0.38718	3.805000	0.55280	6.557000	0.55928	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.7228:0.2772	13.950	0.63623	725	0.54935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	704.98	88	chr10	98383842	.	G	A	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.690e-01;DP=796;ExcessHet=0.0000;FS=1.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=1.22;SOR=0.798	GT:AD:DP:GQ:PL	0/1:55,33:88:99:719,0,1339	20	0	1	0
chr10	102141234	102141234	T	C	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.T2726C:p.V909A	.	.	393	1072	56	1	0	58	0.0263397	.	.	3202232	PPRC1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.341	B	0.085	B	0.040	N	1.000	N	0.695	N	1.83	T	-1.044	T	0.037	T	0.216	0.118	4.636	4.68	2.038	0.699	10.053	0.047	0.0101490930981	0.0015	0.00119808	0.0029	0.0009	0.0029	0	0	0.0031	0.0066	0.0059	0.002639	408	154602	rs143292683	0.0020	0.0020	0.0019	0.0022	0.0196	0.0020	0.0019	0.0167	0.0156	0.0004	0.0032	0.0087	2.519e-05	9.36e-05	0.0196	0.0016	0.0034	0.0062	0.0021	0.0021	0.0019	0.0023	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0066	0	0	0.0102	0.0022	0.0024	0.0048	0.002	0.72154	D	0.374	0.16280	T	0.231	0.30614	B	0.039	0.23607	B	0.040146	0.24091	N	0.298293	0.999961	0.19072	N	1.83	0.48079	L	1.83	0.25018	T	0.02	0.06739	N	0.238	0.27792	-1.0440	0.16118	T	0.037	0.16116	T	10	0.0036765337	0.00067	T	0.010149	0.26346	T	0.047	0.12962	.	.	0.0675242888579	0.06100	0.14303085265315366	0.14226	0.500752496802	0.48480	0.469196081161	0.34570	T	0.013009	0.30165	T	-0.521682	0.00430	T	-0.519524	0.20342	T	0.0373172031698167	0.03211	T	0.783222	0.42989	T	0.058052696	0.11632	0.085910715	0.19868	0.058052696	0.11631	0.085910715	0.19868	-2.879	0.08935	T	.	.	0.188	0.40441	B	.;.	.;.	2.026997	0.25760	16.88	0.86320634306687338	0.16458	0.29377	0.23805	N	AEFBCI	0.053537	0.09655	N	-0.49094756658609	0.22378	1.19442	-0.420153200462829	0.24406	1.336295	0.99382276453179	0.33371	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.965000	0.28916	4.582000	0.43923	0.665000	0.62972	0.035000	0.20724	1.000000	0.68203	0.012000	0.09680	0.0:0.0:0.1692:0.8308	10.053	0.41398	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7316.66	150	chr10	102141234	.	T	C	7316.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.99;DP=1074;ExcessHet=0.0000;FS=3.972;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.46;ReadPosRankSum=-1.089e+00;SOR=0.495	GT:AD:DP:GQ:PL	1/1:0,150:150:99:4797,450,0	19	1	1	0
chr10	112411981	112411989	TGAGTGTTC	-	splicing	ACSL5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.841e-07	1.364e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1118.94	92	chr10	112411980	.	GTGAGTGTTC	G	1118.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=855;ExcessHet=0.0000;FS=1.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.458e+00;SOR=0.900	GT:AD:DP:GQ:PL	0/1:59,33:92:99:1133,0,2309	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,43:132:99:0|1:117341048_C_T:432,0,2476:117341048	4	0	10	7
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	0/1:85,37:126:99:105,0,1236	4	0	15	2
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,18,33,0:58:99:.:.:1489,788,764,517,0,386,1347,838,493,1342	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,18,33,0:58:99:.:.:1489,788,764,517,0,386,1347,838,493,1342	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|1:90,37:127:99:0|1:124989533_G_A:1262,0,3584:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:94,31:125:99:758,0,3132	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	0/1:114,25:139:99:306,0,2786	2	0	13	6
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|1:140,12:152:82:0|1:124994489_T_G:82,0,5793:124994489	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|1:139,17:156:99:0|1:124994489_T_G:295,0,5724:124994489	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|1:138,18:156:99:0|1:124994489_T_G:332,0,5659:124994489	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|1:132,19:151:99:0|1:124994523_G_A:401,0,5300:124994523	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	0/1:120,23:143:99:253,0,3340	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	0/1:124,24:148:99:222,0,3479	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|1:130,24:154:99:0|1:124994577_C_A:617,0,5254:124994577	0	0	21	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,17:155:99:0|1:124998077_C_G:298,0,5665:124998077	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,17:158:99:0|1:124998077_C_G:289,0,5821:124998077	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,17:158:99:0|1:124998077_C_G:289,0,5869:124998077	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,17:160:99:0|1:124998077_C_G:283,0,5922:124998077	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,17:157:99:0|1:124998111_A_C:292,0,5807:124998111	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,17:160:99:0|1:124998111_A_C:283,0,5897:124998111	2	0	9	10
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.955	D	0.000	D	1.000	D	2.595	M	0.74	T	-0.368	T	0.302	T	0.95	3.888	19.76	4.04	1.230	7.818	13.592	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,7,0:102:8:0|1:125003008_T_C:8,0,3968,294,3989,4283:125003008	8	0	5	7
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,7,0:102:8:0|1:125003008_T_C:8,0,3968,294,3989,4283:125003008	8	0	5	7
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|1:67,5:72:8:0|1:125003425_G_C:8,0,2798:125003425	8	0	8	5
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|1:125,10:135:44:0|1:125039033_T_A:44,0,5219:125039033	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|1:125,10:135:44:0|1:125039033_T_A:44,0,5219:125039033	9	0	12	0
chr11	212631	212631	G	A	exonic	RIC8A	.	nonsynonymous SNV	RIC8A:NM_001286134:exon7:c.G1082A:p.R361Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.981	D	0.000	D	1.000	D	2.14	M	0.8	T	-0.681	T	0.253	T	0.159	4.234	22.0	3.52	1.187	4.525	12.038	0.116	0.0623295392528	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1002508648	2.052e-06	2.052e-06	0	4.126e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	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	0.004	0.68238	D	0.011	0.64786	D	1.0	0.90584	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	0.999787	0.81001	D	2.47	0.71715	M	0.8	0.48769	T	-2.6	0.55983	D	0.467	0.50327	-0.6808	0.61335	T	0.253	0.62326	T	10	0.74409825	0.75164	D	0.06233	0.68619	D	0.265	0.57870	0.815	0.92992	0.907343320923	0.90641	0.37993848919578344	0.37908	0.945086365599	0.72381	0.474943637848	0.35362	T	0.258915	0.63012	T	-0.114302	0.34059	T	-0.401963	0.33156	T	0.967301845550537	0.67865	D	0.916508	0.81304	D	0.36117473	0.57925	0.24604763	0.50105	0.36117473	0.57926	0.24604763	0.50104	-6.782	0.55165	T	.	.	0.101	0.26669	B	.;.;.	.;.;.	6.997573	0.96014	35	0.99951506895875808	0.99944	0.89086	0.49344	D	AEFDBCI	0.423442	0.48902	N	0.485524463137892	0.66244	4.925217	0.418432426491022	0.62713	4.491487	0.990226010137647	0.32081	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.43	3.52	0.39415	4.666000	0.61248	6.951000	0.57024	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0864:0.0:0.9135:0.0	12.038	0.52733	774	0.48577	Synembryn;.;.	.	.	.	.	.	Uncertain significance	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	1490.98	127	chr11	212631	.	G	A	1490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.627;DP=851;ExcessHet=0.0000;FS=3.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.275;SOR=0.897	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1505,0,1555	20	0	1	0
chr11	499944	499944	G	A	exonic	RNH1	.	nonsynonymous SNV	RNH1:NM_203384:exon4:c.C328T:p.R110C	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.548	P	0.107	N	0.985	N	2.095	M	0.99	T	-0.964	T	0.117	T	0.422	1.129	9.603	1.12	0.327	1.596	5.141	0.117	0.103392272384	0.0049	0.00179712	0.0060	0.0020	0.0014	0	0.0082	0.0089	0.0016	0.0026	0.004366	675	154602	rs117254759	0.0066	0.0066	0.0069	0.0064	0.0078	0.0065	0.0065	0.0077	0.0076	0.0010	0.0014	0.0040	0	0.0069	0.0015	0.0078	0.0046	0.0019	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0064	0.0062	0.0013	0	0.0014	0.0037	0	0.0055	0	0.0070	0.0043	0.0017	0.074	0.78490	T	0.034	0.69154	D	0.999	0.77913	D	0.548	0.49136	P	0.106549	0.19609	N	0.423423	0.98541	0.24713	N	2.285	0.65182	M	0.99	0.54149	T	-2.52	0.77798	D	0.394	0.43803	-0.9637	0.38468	T	0.117	0.41187	T	10	0.0055663884	0.00123	T	0.103392	0.77739	D	0.117	0.32689	.	.	0.690818619429	0.68816	0.4378412686119318	0.43701	0.642168430392	0.57789	0.411553770304	0.26672	T	0.123394	0.44773	T	-0.396166	0.02453	T	-0.33516	0.40892	T	0.025197134143806	0.01298	T	0.79622	0.56114	T	0.37820172	0.59186	0.12681967	0.30538	0.37820172	0.59186	0.12681967	0.30537	-6.856	0.52974	T	.	.	0.125	0.37988	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.528874	0.32689	19.12	0.99656008721594225	0.77631	0.22819	0.21873	N	AEFBCI	0.228658	0.35229	N	-0.343048869355888	0.27528	1.511066	-0.584454568967611	0.19898	1.069654	0.731839146626737	0.23059	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.03	1.12	0.19700	0.072000	0.14482	1.360000	0.25874	0.506000	0.23061	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.2832:0.0:0.7168:0.0	5.141	0.14289	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	chr11:499944	Likely benign	0	0	0	0	0	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	1746.11	79	chr11	499944	.	G	A	1746.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.481;DP=863;ExcessHet=0.1072;FS=2.746;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.281;SOR=0.511	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1159,0,776	19	0	2	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	0/2:417,49,61:527:99:1107,338,17586,0,15093,17463	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	0/1:344,109,109,0:562:54:.:.:3552,0,14429,54,9295,13335,4582,14318,13804,18747	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	0/1:372,133,61,0:566:99:.:.:4469,0,15218,3000,13063,18430,5575,15619,18619,21189	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|1:369,188,0:557:99:0|1:1017440_C_T:6783,0,14928,7894,15494,23388:1017440	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:478,76,0:554:99:.:.:1752,0,19842,3191,20071,23262	3	0	10	4
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|1:506,59,0:565:99:0|1:1017458_A_G:954,0,21069,2477,21247,23724:1017458	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|1:389,176,0:565:99:0|1:1017440_C_T:6219,0,15804,7390,16334,23724:1017440	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	0/1:473,53,0:568:99:.:.:802,0,19702,2225,19861,22087	3	0	9	6
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:527,48,0:575:99:0|1:1017489_G_A:429,0,21984,2016,22129,24144:1017489	3	0	12	1
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	0/1:492,92,0:584:99:.:.:2382,0,20188,3863,20465,24328	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	0/3:332,87,62,91:572:99:.:.:2949,314,13540,1379,11272,15171,0,10047,11378,13700	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:552,41,0:593:60:0|1:1017489_G_A:60,0,22881,1722,23004,24726:1017489	7	0	6	4
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:368,222,0:590:99:.:.:8071,0,13897,9178,14565,23743	0	0	15	2
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	0/1:540,72,0:612:99:.:.:423,0,21325,2048,21541,23589	5	0	7	5
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:382,79,0:461:99:0|1:1017552_T_C:1067,0,11633,2214,11870,14084:1017552	7	0	8	4
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,94,0:475:99:1|0:1017552_T_C:1468,0,12693,2613,12974,15587:1017552	7	0	9	3
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:422,102,0:526:99:.:.:1447,0,12638,2712,12942,15657	9	0	11	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,41,16:178:99:.:.:1357,0,4957,1050,4409,6082	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	0/1:159,16,3:178:99:.:.:187,0,6712,540,6550,7207	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	0/1:200,30,23:253:99:.:.:658,0,8308,294,7432,8623	6	0	10	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3631.68	115	chr11	1075685	.	C	T	3631.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.770e-01;DP=922;ExcessHet=0.3300;FS=1.394;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.010e-01;SOR=0.791	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1352,0,1610	18	0	3	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|1:8,216,0:224:99:1|1:1095948_C_G:8114,467,0,8138,646,8317:1095948	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|1:0,219,0,0:219:99:1|1:1095948_C_G:8618,658,0,8618,658,8618,8618,658,8618,8618:1095948	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	0/1:453,113,0,0:566:99:.:.:2497,0,17162,3857,17498,21355,3857,17498,21355,21355	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	0/1:453,113,0,0:566:99:.:.:2497,0,17162,3857,17498,21355,3857,17498,21355,21355	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	0/2:270,70,116:456:99:2981,1607,12249,0,9062,17519	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	0/1:270,70,0:456:99:.:.:1374,0,10642,2592,11432,19222	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	0/1:270,70,0:456:99:.:.:1374,0,10642,2592,11432,19222	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	0/2:268,70,135:473:99:.:.:3720,2299,12897,0,9029,14221	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	0/2:268,0,70:473:99:.:.:1421,2709,17995,0,11333,10598	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	0/1:268,70,0:473:99:.:.:1421,0,10598,2709,11333,17995	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	0/1:268,70,0:473:99:.:.:1421,0,10598,2709,11333,17995	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|1:268,213,0:481:99:0|1:1096183_AACACCCACC_*:6924,0,10151,7882,11210,20582:1096183	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|1:268,213,0:481:99:0|1:1096183_AACACCCACC_*:6924,0,10151,7882,11210,20582:1096183	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|1:268,213,0:481:99:0|1:1096183_AACACCCACC_*:6924,0,10151,7882,11210,20582:1096183	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	1/1:0,93,0:93:99:.:.:2875,278,0,2875,278,2875	0	19	0	0
chr11	1097377	1097377	T	0	exonic	MUC2	.	.	.	.	.	706	772	41	0	3	44	0.0258675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1225.14	90	chr11	1097377	.	T	C,*	1225.14	.	AC=6,1;AF=0.273,0.045;AN=22;BaseQRankSum=2.86;DP=2345;ExcessHet=2.5830;FS=30.158;InbreedingCoeff=-0.4001;MLEAC=9,2;MLEAF=0.409,0.091;MQ=29.98;MQRankSum=-1.032e+00;QD=2.03;ReadPosRankSum=-2.380e-01;SOR=2.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,18,0:90:99:.:.:249,0,1937,463,1991,2454	4	0	6	10
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3942.28	175	chr11	1097542	.	C	T,*	3942.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.89;DP=3986;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=53.25;MQRankSum=-9.900e-01;QD=7.17;ReadPosRankSum=-1.372e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,96,0:175:99:.:.:2115,0,1370,2348,1654,4001	18	0	2	0
chr11	1097542	1097542	C	0	exonic	MUC2	.	.	.	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3942.28	175	chr11	1097542	.	C	T,*	3942.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.89;DP=3986;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=53.25;MQRankSum=-9.900e-01;QD=7.17;ReadPosRankSum=-1.372e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,96,0:175:99:.:.:2115,0,1370,2348,1654,4001	18	0	2	0
chr11	1097837	1097837	A	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303597510	0.0001	0.0005	9.163e-05	0.0001	0.0007	9.15e-05	8.554e-05	0.0004	0.0003	0.0003	3.36e-05	0.0001	0.0007	0.0001	0	6.787e-05	0.0001	0.0003	7.882e-05	0.0002	0.0001	5.253e-05	0.0003	2.089e-05	1.079e-05	.	.	0.0001	0	0.0003	0	0	0	0	4.93e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	59.41	101	chr11	1097837	.	A	T	59.41	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.07;DP=2446;ExcessHet=0.0000;FS=30.254;InbreedingCoeff=-0.1103;MLEAC=1;MLEAF=0.031;MQ=34.60;MQRankSum=1.82;QD=0.59;ReadPosRankSum=-2.964e+00;SOR=3.496	GT:AD:DP:GQ:PL	0/1:91,10:101:71:71,0,2716	15	0	1	5
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	369.07	124	chr11	1098120	.	C	A	369.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.38;DP=2676;ExcessHet=0.1072;FS=2.287;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=36.93;MQRankSum=-3.180e-01;QD=1.62;ReadPosRankSum=-1.326e+00;SOR=0.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,14:124:99:0|1:1098026_G_A:257,0,4491:1098026	14	0	2	5
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	300.66	117	chr11	1098124	.	C	T	300.66	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.399;DP=2552;ExcessHet=0.1072;FS=2.458;InbreedingCoeff=-0.2353;MLEAC=4;MLEAF=0.222;MQ=35.88;MQRankSum=-6.880e-01;QD=1.42;ReadPosRankSum=-5.510e-01;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,12:117:99:0|1:1098026_G_A:188,0,4298:1098026	7	0	2	12
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,157,0:157:99:.:.:4931,470,0,4188,464,4346	0	15	0	0
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:547,0,168:715:99:0|1:1185018_A_C:5408,7054,29988,0,22934,22428:1185018	7	0	3	5
chr11	1198893	1198893	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon44:c.C16193T:p.S5398L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.431e-05	0	0	0	0	4.606e-05	0	0	3.84e-05	1	26028	rs749821020	1.166e-05	1.59e-05	7.329e-06	1.526e-05	1.741e-05	4.85e-06	3.12e-06	7.26e-06	5.11e-06	0	0	0	0	0	0	1.741e-05	3.084e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.32370	.	.	.	.	.	.	.	0.22717056	0.39590	T	.	.	.	.	.	.	.	0.649541849935	0.64662	0.8630058042431477	0.86264	.	.	.	.	.	0.206322	0.56563	T	-0.109766	0.34807	T	-0.395448	0.33915	T	.	.	.	.	.	.	0.19420563	0.41160	0.34626067	0.60297	0.19420563	0.41160	0.34626067	0.60296	-5.555	0.42379	T	.	.	0.327	0.54975	B	.	.	2.935958	0.39022	20.9	0.8342537755846563	0.14719	0.94805	0.62390	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999892413874963	0.45129	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.648001	0.41719	5.12	4.17	0.48303	0.818000	0.26952	2.307000	0.32053	0.567000	0.28720	0.295000	0.25279	0.976000	0.30059	0.085000	0.17524	0.1732:0.8268:0.0:0.0	12.005	0.52543	.	.	VWFC domain|VWFC 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	895.98	87	chr11	1198893	.	C	T	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-8.740e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/1:52,35:87:99:910,0,1516	20	0	1	0
chr11	1248782	1248782	G	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G11902C:p.G3968R,	.	.	445	1067	9	1	0	11	0.00512821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.003	B	.	.	1.000	N	1.955	M	2.01	T	-1.007	T	0.060	T	0.102	0.377	6.047	0.066	-0.244	-0.402	7.327	0.016	0.00115913261621	.	0.000199681	0.0015	0	0	0	0	0.0035	0	0	3.84e-05	1	26028	rs564550102	0.0004	0.0004	0.0004	0.0005	0.0068	0.0004	0.0004	0.0051	0.0045	9.498e-05	0.0002	0.0075	0	2.034e-05	0.0068	0.0003	0.0008	0.0004	0.0005	0.0005	0.0005	0.0005	0.0005	0.0004	0.0003	0.0004	0.0004	2.464e-05	0	0.0002	0.0067	0	0	0.0034	0.0005	0.0014	0.0004	0.041	0.41915	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.095	0.58118	M	1.83	0.24841	T	-1.56	0.37759	N	0.07	0.04307	-1.0072	0.27789	T	0.060	0.24945	T	9	0.005426973	0.00120	T	0.001159	0.01459	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.4187595586471589	0.41791	.	.	0.218168482184	0.01206	T	0.021063	0.16467	T	-0.554857	0.00273	T	-0.678413	0.07081	T	0.0127803029941339	0.00217	T	0.644036	0.25562	T	0.064028956	0.13544	0.09006886	0.21100	0.064028956	0.13543	0.09006886	0.21099	-7.739	0.59278	D	.	.	0.153	0.33823	B	.	.	0.476649	0.08461	5.220	0.61862330430538026	0.06816	0.02256	0.06529	N	AEFI	0.053372	0.09610	N	-0.956521319148289	0.09547	0.4523114	-1.07466537576786	0.08201	0.4022063	9.36312119222132E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.25	0.066	0.13671	-0.208000	0.09375	-9.366000	0.00831	-0.329000	0.05792	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4409:0.0:0.559:0.0	7.327	0.25733	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1247.98	128	chr11	1248782	.	G	C	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-01;DP=1430;ExcessHet=0.0000;FS=2.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.06;MQRankSum=-2.499e+00;QD=9.75;ReadPosRankSum=0.639;SOR=0.492	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1262,0,1425	20	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T,	.	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.0	B	.	.	1.000	P	0.145	N	2.52	T	-0.993	T	0.000	T	0.03	0.270	5.460	-6.48	-3.533	-1.103	3.030	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	11120.92	197	chr11	1956322	.	G	A	11120.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.153e+00;DP=1450;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=0.475;SOR=0.694	GT:AD:DP:GQ:PL	0/1:88,109:197:99:2709,0,1936	17	0	4	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,21:154:99:.:.:332,0,4685	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	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	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,30:155:99:.:.:408,0,4685	12	0	9	0
chr11	6390704	6390704	G	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	43	1200	222	19	38	298	0.0977444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2978.5	52	chr11	6390704	.	G	GCGC,*	2978.5	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=0.024;DP=1009;ExcessHet=0.0409;FS=0.508;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.059;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,28,0:52:99:.:.:1087,0,884,1165,968,2133	17	0	2	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	1/5:0,24,0,0,0,28:52:99:.:.:2598,1251,1087,2324,1246,2366,2324,1246,2366,2366,2324,1246,2366,2366,2366,766,0,924,924,924,884	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	1/5:0,24,0,0,0,28:52:99:.:.:2598,1251,1087,2324,1246,2366,2324,1246,2366,2366,2324,1246,2366,2366,2366,766,0,924,924,924,884	0	5	0	0
chr11	6547636	6547636	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C6697T:p.R2233C,	.	.	434	1071	15	2	0	19	0.00879223	.	.	1670601	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.99	D	0.53	P	0.867	N	0.872	N	1.245	L	1.63	T	-1.053	T	0.053	T	0.333	3.272	16.98	2.92	0.311	0.726	4.302	0.105	.	0.0064	0.00419329	0.0130	0.0079	0.0029	0	0	0.0066	0.0130	0.0336	0.0023997	371	154602	rs117939157	0.0065	0.0062	0.0061	0.0068	0.0204	0.0063	0.0063	0.0195	0.0192	0.0081	0.0013	0.0067	0.0001	0.0007	0.0036	0.0061	0.0048	0.0204	0.0058	0.0058	0.0057	0.0058	0.0154	0.0054	0.0053	0.0126	0.0115	0.0088	0	0.0017	0.0060	0.0002	0.0007	0.0068	0.0055	0.0024	0.0154	0.164	0.23360	T	0.004	0.74150	D	0.99	0.63424	D	0.53	0.48544	P	0.866569	0.07149	N	1.062860	0.968442	0.25801	N	2.35	0.67516	M	1.63	0.28002	T	-1.64	0.39314	N	0.213	0.23758	-1.0531	0.13547	T	0.053	0.22501	T	10	0.004265189	0.00085	T	.	.	.	0.105	0.29889	.	.	0.398283496042	0.39440	0.16205055164973825	0.16126	0.420025717159	0.42536	0.223574578762	0.01527	T	0.011186	0.10013	T	-0.501908	0.00558	T	-0.478137	0.24643	T	0.0237728193375252	0.01117	T	0.655434	0.26547	T	0.06109274	0.12611	0.042963356	0.05238	0.06109274	0.12611	0.042963356	0.05237	-4.18	0.26461	T	.	.	0.086	0.10642	B	.;.	.;.	2.216652	0.28284	17.75	0.99718684397666835	0.81914	0.47592	0.28017	N	AEFBI	0.114976	0.22625	N	-0.382220235524935	0.26102	1.422027	-0.482424820534155	0.22637	1.23058	0.00615243879697362	0.11143	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.17	2.92	0.32998	0.765000	0.26211	0.370000	0.17667	-0.218000	0.08083	0.505000	0.26994	0.023000	0.20922	0.001000	0.02609	0.1518:0.6028:0.1464:0.099	4.302	0.10372	473	0.77910	.;.	.	.	.	.	rs117939157	Uncertain significance	0	0	0	0	0	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	1063.11	31	chr11	6547636	.	C	T	1063.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.564;DP=755;ExcessHet=0.1072;FS=1.947;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.830;SOR=0.998	GT:AD:DP:GQ:PL	0/1:15,16:31:99:461,0,402	19	0	2	0
chr11	6601351	6601351	G	C	exonic	RRP8	.	nonsynonymous SNV	RRP8:NM_015324:exon3:c.C715G:p.R239G,	.	.	427	1093	2	0	0	2	0.000914077	.	.	2346432	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.988	D	0.891	P	0.000	D	1.000	D	0.805	L	0.9	T	-0.878	T	0.143	T	0.83	2.796	15.31	3.83	1.439	1.119	13.498	0.262	0.0443912716887	.	.	1.702e-05	0	0	0	0	1.546e-05	0.0011	0	1.29e-05	2	154602	rs745570524	2.121e-05	2.121e-05	1.77e-05	2.476e-05	0.0002	1.52e-05	1.324e-05	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	2.068e-05	3.312e-05	5.798e-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	4.41e-05	0	0	0.007	0.59928	D	0.016	0.60972	D	0.988	0.62325	D	0.891	0.63213	P	0.000000	0.84330	D	0.000000	0.998366	0.81001	D	2.275	0.64647	M	0.9	0.45248	T	-3.96	0.73579	D	0.808	0.80375	-0.8781	0.49911	T	0.143	0.46459	T	10	0.8013315	0.79531	D	0.044391	0.61467	D	0.262	0.57482	0.569	0.69167	0.685535075557	0.68284	0.5356010848600614	0.53485	0.143228198031	0.16158	0.579995334148	0.50085	T	0.105549	0.41611	T	-0.00973925	0.50303	T	-0.0702383	0.65610	T	0.852301597595215	0.50365	D	0.823618	0.48435	T	0.706978	0.78441	0.5958223	0.76534	0.706978	0.78443	0.5958223	0.76535	-8.827	0.66576	D	.	.	0.533	0.66042	A	.	.	3.431331	0.47690	22.5	0.9987212977886788	0.94989	0.90462	0.51658	D	AEFDBCI	0.368658	0.45567	N	0.279356658318835	0.55104	3.674664	0.272344023070298	0.53931	3.559799	0.999957181524727	0.48110	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.85	3.83	0.43287	1.079000	0.30378	4.277000	0.42867	0.676000	0.76740	0.855000	0.30528	1.000000	0.68203	0.286000	0.24163	0.0:0.0:0.7164:0.2836	13.498	0.60891	489	0.76795	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1746.98	126	chr11	6601351	.	G	C	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=1034;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.603;SOR=0.733	GT:AD:DP:GQ:PL	0/1:57,69:126:99:1761,0,1239	20	0	1	0
chr11	6768747	6768747	G	A	exonic	OR2AG2	.	nonsynonymous SNV	OR2AG2:NM_001004490:exon1:c.C211T:p.L71F,	.	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.343	B	0.216	B	0.001	D	1.000	N	1.695	L	4.4	T	-1.010	T	0.010	T	0.382	1.716	11.70	3.23	1.316	-0.201	9.440	0.086	0.00314131228746	0.0002	0.000199681	0.0005	0	0	0	0	0.0003	0	0.0025	0.0004204	65	154602	rs145367863	0.0003	0.0003	0.0002	0.0004	0.0061	0.0003	0.0003	0.0045	0.0039	5.974e-05	8.944e-05	0.0008	0	0	0.0061	0.0001	0.0004	0.0024	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.407e-05	0	0.0005	0.0006	0	0	0.0068	0.0003	0.0009	0.0021	0.071	0.35165	T	0.017	0.60337	D	0.343	0.33512	B	0.216	0.37572	B	0.000564	0.43250	D	0.000000	0.999973	0.18612	N	1.875	0.49914	L	4.4	0.02215	T	-1.98	0.45769	N	0.282	0.31925	-1.0097	0.27012	T	0.010	0.03811	T	10	0.0124183595	0.00267	T	0.003141	0.06845	T	0.086	0.25016	.	.	0.269111216191	0.26524	0.3062234912750719	0.30535	0.0217442256997	0.02172	0.282580137253	0.07855	T	0.01085	0.09750	T	-0.511871	0.00490	T	-0.514828	0.20821	T	0.683037340641022	0.39927	D	0.751925	0.37414	T	0.17093031	0.37697	0.17572166	0.40058	0.17093031	0.37697	0.17572166	0.40057	-6.608	0.51115	T	.	.	0.145	0.34227	B	.;.;.	.;.;.	3.228438	0.44022	21.8	0.99366390325766107	0.61240	0.09382	0.15149	N	AEFGBI	0.064473	0.12520	N	-0.253140008029817	0.30979	1.732528	-0.24857042028347	0.29821	1.673878	1.70856277862134E-4	0.05721	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.15	3.23	0.36150	0.084000	0.14738	-20.000000	0.00162	0.661000	0.55757	0.004000	0.16614	0.000000	0.08366	0.500000	0.29017	0.0:0.0:0.6135:0.3865	9.440	0.37825	496	0.76301	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	0	0	0	0	0.02381	2530.98	201	chr11	6768747	.	G	A	2530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=1984;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=0.491;QD=12.59;ReadPosRankSum=0.763;SOR=0.766	GT:AD:DP:GQ:PL	0/1:106,95:201:99:2545,0,2806	20	0	1	0
chr11	10755722	10755722	C	G	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon4:c.C429G:p.D143E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.179	B	0.018	B	0.000	D	1.000	D	1.95	M	-1.03	T	-0.702	T	0.303	T	0.351	1.962	12.52	5.05	1.524	1.557	9.667	0.337	0.0415363704924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.172	0.30241	T	0.179	0.28995	B	0.018	0.18489	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.95	0.52479	M	-1.03	0.76430	T	-2.74	0.58248	D	0.336	0.37717	-0.7016	0.60362	T	0.303	0.67371	T	10	0.3098428	0.48468	T	0.041536	0.59981	D	0.337	0.65913	0.658	0.79585	0.72683377105	0.72441	0.42989477580108654	0.42906	0.975079256264	0.73533	0.841479241848	0.88320	D	0.310761	0.68270	T	-0.00051415	0.51582	T	-0.238515	0.50943	T	0.793070495128632	0.45891	D	0.908909	0.67748	D	0.36213583	0.57999	0.18108493	0.40950	0.36213583	0.57999	0.18108493	0.40949	-7.59	0.58241	D	.	.	0.543	0.66471	A	.;.	.;.	2.796378	0.36774	20.3	0.98952323052854896	0.49170	0.91958	0.54632	D	AEFDGBI	0.263388	0.38095	N	-0.153124570001668	0.35101	2.011978	0.00258476757586344	0.39835	2.368027	0.971910117719192	0.29326	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.05	0.67566	1.586000	0.36221	3.289000	0.37290	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8028:0.0:0.1972	9.667	0.39156	794	0.45591	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1539.98	129	chr11	10755722	.	C	G	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=836;ExcessHet=0.0000;FS=7.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.156;SOR=0.831	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1554,0,1604	20	0	1	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,32,0,0,0,0,0:69:99:.:.:1057,0,1226,1200,1327,2611,1200,1327,2611,2611,1200,1327,2611,2611,2611,1200,1327,2611,2611,2611,2611,1200,1327,2611,2611,2611,2611,2611	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,32,0,0,0,0,0:69:99:.:.:1057,0,1226,1200,1327,2611,1200,1327,2611,2611,1200,1327,2611,2611,2611,1200,1327,2611,2611,2611,2611,1200,1327,2611,2611,2611,2611,2611	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,32,0,0,0,0,0:69:99:.:.:1057,0,1226,1200,1327,2611,1200,1327,2611,2611,1200,1327,2611,2611,2611,1200,1327,2611,2611,2611,2611,1200,1327,2611,2611,2611,2611,2611	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,32,0,0,0,0,0:69:99:.:.:1057,0,1226,1200,1327,2611,1200,1327,2611,2611,1200,1327,2611,2611,2611,1200,1327,2611,2611,2611,2611,1200,1327,2611,2611,2611,2611,2611	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,32,0,0,0,0,0:69:99:.:.:1057,0,1226,1200,1327,2611,1200,1327,2611,2611,1200,1327,2611,2611,2611,1200,1327,2611,2611,2611,2611,1200,1327,2611,2611,2611,2611,2611	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,32,0,0,0,0,0:69:99:.:.:1057,0,1226,1200,1327,2611,1200,1327,2611,2611,1200,1327,2611,2611,2611,1200,1327,2611,2611,2611,2611,1200,1327,2611,2611,2611,2611,2611	6	0	4	0
chr11	13010508	13010508	C	A	exonic	RASSF10	.	nonsynonymous SNV	RASSF10:NM_001080521:exon1:c.C932A:p.A311D,	.	.	340	1165	16	1	0	18	0.0076661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00419329	0.0082	0	0.0112	0	0.0045	0.0146	0	0.0051	0.0018305	283	154602	rs200457508	0.0064	0.0062	0.0065	0.0064	0.0073	0.0063	0.0063	0.0072	0.0071	0.0012	0.0030	0.0103	0	0.0024	0.0067	0.0073	0.0062	0.0017	0.0042	0.0042	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0036	0.0072	0	0.0017	0.0137	0.0067	0.0043	0.0017	.	.	.	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-1.5	0.00507	N	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.005890757	0.00132	T	.	.	.	.	.	.	.	0.17948927462	0.17512	0.19620850095321724	0.19537	.	.	0.728413641453	0.71275	T	0.011056	0.09913	T	-0.45404	0.01069	T	-0.419847	0.31093	T	.	.	.	0.305069	0.05837	T	0.19861113	0.41770	0.29247585	0.55275	0.19861113	0.41770	0.29247585	0.55274	-3.397	0.15016	T	.	.	0.057	0.00604	B	.	.	1.401140	0.18154	13.58	0.84258461742934376	0.15187	0.06341	0.12339	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.99999994688726	0.74766	0.095506	0.02484	0	0.085267	0.02369	0	0.183864	0.04481	0	0.109499	0.03221	0	0.127789	0.25488	5.06	2.67	0.30756	3.014000	0.49278	7.021000	0.57267	-0.062000	0.16622	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.6881:0.3119:0.0:0.0	10.507	0.44026	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2723.11	81	chr11	13010508	.	C	A	2723.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.23;DP=984;ExcessHet=0.1072;FS=5.952;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.939;SOR=0.366	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1362,0,953	19	0	2	0
chr11	17386938	17386938	G	C	exonic	KCNJ11	.	nonsynonymous SNV	KCNJ11:NM_000525:exon1:c.C1154G:p.S385C	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	0	1468	52	2	0	56	0.0187166	.	.	45093	Neonatal_diabetes_mellitus|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2|Monogenic_diabetes|Maturity-onset_diabetes_of_the_young_type_13|not_specified|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224|MedGen:C3661900|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.38	B	0.308	B	0.608	N	0.615	D	1.67	L	-2.25	D	0.183	D	0.417	T	0.259	2.088	12.94	5.17	2.398	3.469	14.127	0.369	.	0.0102	0.0109824	0.0050	0.0231	0.0028	0	0	0.0034	0.0154	0.0055	0.004683	724	154602	rs41282930	0.0033	0.0034	0.0033	0.0034	0.0253	0.0033	0.0032	0.0239	0.0234	0.0253	0.0038	0.0101	0.0001	0.0002	0.0245	0.0024	0.0059	0.0055	0.0094	0.0095	0.0097	0.0091	0.0246	0.0090	0.0089	0.0233	0.0228	0.0246	0	0.0085	0.0118	0.0002	0.0003	0.0340	0.0028	0.0133	0.0033	0.002	0.72154	D	0.009	0.66756	D	.	.	.	.	.	.	0.607718	0.10897	N	0.819694	0.614702	0.32652	D	.	.	.	-2.37	0.88220	D	-1.7	0.40468	N	0.174	0.18649	0.183	0.85615	D	0.417	0.76367	T	10	0.005117476	0.00111	T	.	.	.	0.369	0.68844	.	.	0.958566052307	0.95812	0.4760188451649058	0.47520	0.812429226841	0.66793	0.495120823383	0.38149	T	.	.	.	-0.300228	0.08639	T	-0.18578	0.55983	T	0.0173762586484723	0.00475	T	0.715628	0.32820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.09385	B	.;.	.;.	3.729829	0.53349	23.4	0.97812369977749791	0.36136	0.46035	0.27671	N	AEFDGBHCI	0.289475	0.40111	N	0.241689725135397	0.53230	3.492802	0.337379174047973	0.57750	3.94205	0.999999999991511	0.74766	0.696267	0.57585	0	0.703908	0.78521	0	0.691665	0.62940	0	0.691587	0.68394	0	.	.	5.17	5.17	0.70848	3.069000	0.49724	7.525000	0.59824	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.1495:0.8505:0.0	14.127	0.64762	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2027.11	83	chr11	17386938	.	G	C	2027.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.114;DP=1324;ExcessHet=0.1072;FS=2.566;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=0.655;SOR=0.504	GT:AD:DP:GQ:PL	0/1:55,28:83:99:599,0,1415	19	0	2	0
chr11	31430384	31430384	C	T	exonic	DNAJC24	.	nonsynonymous SNV	DNAJC24:NM_181706:exon5:c.C433T:p.L145F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.774	P	0.001	D	1.000	D	1.955	M	1.45	T	-1.025	T	0.099	T	0.196	2.294	13.63	2.23	0.637	2.197	2.713	0.159	0.0243026690673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.012	0.63918	D	.	.	.	.	.	.	0.000578	0.43250	D	0.189991	0.745763	0.33872	D	.	.	.	1.45	0.32482	T	-2.07	0.47344	N	0.238	0.26837	-1.0248	0.22148	T	0.099	0.36856	T	10	0.25963157	0.43402	T	0.024303	0.47287	T	0.159	0.41286	.	.	0.483301346737	0.47961	0.628431862284808	0.62776	0.421294858915	0.42638	0.452863872051	0.32335	T	0.338285	0.70757	T	-0.181412	0.23525	T	-0.498362	0.22517	T	0.768617601559289	0.44356	D	0.743326	0.36245	T	0.093211345	0.21886	0.11312494	0.27300	0.093211345	0.21886	0.11312494	0.27300	-5.66	0.43335	T	.	.	0.223	0.45483	B	.	.	3.167548	0.42947	21.6	0.99807894123297425	0.89174	0.76642	0.37605	D	AEFBI	0.221904	0.34647	N	0.0532000653145887	0.44289	2.705728	-0.0315434559698925	0.38298	2.254394	3.01293924114846E-4	0.06454	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	2.23	0.27189	2.233000	0.42672	2.902000	0.35456	-0.273000	0.06669	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.3823:0.398:0.122:0.0978	2.713	0.04861	473	0.77910	Zinc finger, DPH-type|Zinc finger, DPH-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	0.025	147.53	144	chr11	31430384	.	C	T	147.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.100e+00;DP=1569;ExcessHet=0.0000;FS=258.487;InbreedingCoeff=-0.0472;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=1.07;ReadPosRankSum=2.31;SOR=10.832	GT:AD:DP:GQ:PL	0/1:102,36:144:99:161,0,1892	19	0	1	1
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:13,6,5,15:44:67:301,67,846,80,461,486,0,75,128,188	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:13,6,5,15:44:67:301,67,846,80,461,486,0,75,128,188	0	0	0	0
chr11	33348524	33348524	G	A	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon12:c.G2309A:p.S770N	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.006	B	0.000	D	0.961	D	0.77	N	1.96	T	-1.089	T	0.052	T	0.164	1.669	11.54	6.16	2.937	4.057	15.564	0.070	0.00437592162165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458659568	1.383e-06	2.737e-06	0	2.781e-06	2.345e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.345e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.594	0.19073	T	0.004	0.14184	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	0.889502	0.38208	D	0	0.06538	N	1.96	0.22881	T	-0.44	0.14588	N	0.199	0.22228	-1.0886	0.05770	T	0.052	0.22037	T	10	0.123004586	0.30776	T	0.004376	0.10655	T	0.070	0.20419	0.365	0.37199	0.255117706274	0.25116	0.33354578826268844	0.33267	0.210819982291	0.23580	0.528872013092	0.42874	T	0.022337	0.17240	T	-0.274839	0.11223	T	-0.531933	0.19094	T	0.314157776204085	0.25584	T	0.70223	0.31206	T	0.13066204	0.30482	0.17728148	0.40320	0.13066204	0.30481	0.17728148	0.40319	-3.918	0.22572	T	.	.	0.092	0.13550	B	.;.;.;.	.;.;.;.	3.043283	0.40808	21.2	0.98445653610976003	0.41564	0.97649	0.76151	D	AEFBI	0.599100	0.59225	D	0.0657943390850694	0.44872	2.753478	0.293601555432501	0.55166	3.679845	0.823164295806035	0.24560	0.706548	0.73137	0	0.653731	0.59785	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	6.16	6.16	0.99302	3.939000	0.56302	9.896000	0.82311	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8622:0.1378	15.564	0.76010	359	0.84979	.;.;.;.	.	.	.	.	.	Uncertain significance	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	527.98	46	chr11	33348524	.	G	A	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.351;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.905;SOR=0.656	GT:AD:DP:GQ:PL	0/1:25,21:46:99:542,0,694	20	0	1	0
chr11	34890512	34890512	G	A	exonic	APIP	.	stopgain	APIP:NM_015957:exon3:c.C199T:p.R67X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	7.105	38	5.45	2.539	5.829	12.420	.	.	0.0018	0.000199681	0.0022	9.634e-05	8.74e-05	0	0.0027	0.0035	0.0011	0.0004	0.002141	331	154602	rs138288686	0.0024	0.0024	0.0024	0.0023	0.0025	0.0023	0.0023	0.0024	0.0024	0.0003	0.0006	0.0143	7.601e-05	0.0019	0.0011	0.0025	0.0026	0.0006	0.0018	0.0018	0.0018	0.0017	0.0026	0.0016	0.0015	0.0023	0.0022	0.0003	0	0.0003	0.0124	0	0.0020	0	0.0026	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.341	0.38232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22663	0.76403	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.042670	0.99894	51	0.99831472144964795	0.91284	0.90000	0.50843	D	AEFBHCI	0.210125	0.33605	N	0.892213050287755	0.91374	10.85101	0.76863020645645	0.87541	9.257935	0.999999988171847	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.699908	0.69081	0	.	.	5.45	5.45	0.79688	5.892000	0.69531	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:0.0:0.7171:0.2829	12.420	0.54849	775	0.48401	Class II aldolase/adducin N-terminal|Class II aldolase/adducin N-terminal	.	.	.	.	.	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	1130.98	91	chr11	34890512	.	G	A	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.410e-01;DP=830;ExcessHet=0.0000;FS=0.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.625e+00;SOR=0.537	GT:AD:DP:GQ:PL	0/1:39,50:91:99:1145,0,795	20	0	1	0
chr11	34916677	34916677	G	T	exonic	PDHX	.	nonsynonymous SNV	PDHX:NM_001166158:exon1:c.G22T:p.G8C	Lacticacidemia due to PDX1 deficiency, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	1417734	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.938	P	0.498	P	0.000	D	1.000	N	.	.	1.93	T	-0.976	T	0.122	T	0.546	4.702	26.1	3.29	0.732	0.211	11.735	0.156	0.0362893049858	.	.	9.384e-05	0	0.0002	0	0	3.102e-05	0	0.0004	7.12e-05	11	154602	rs778248643	5.484e-05	5.883e-05	3.683e-05	7.302e-05	0.0006	4.486e-05	4.155e-05	0.0005	0.0004	2.989e-05	6.708e-05	0	0	0	0.0004	1.439e-05	8.295e-05	0.0006	1.969e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.005	0.68238	D	0.007	0.74150	D	0.938	0.52538	P	0.498	0.47596	P	0.000048	0.53742	D	0.161766	0.99991	0.51042	D	2.095	0.58118	M	1.93	0.38883	T	-2.66	0.69357	D	0.386	0.47580	-0.9756	0.35993	T	0.122	0.42272	T	9	0.13705611	0.26074	T	0.036289	0.56894	D	0.156	0.40720	.	.	0.581692290366	0.57840	0.7258147240065734	0.72525	0.281412569002	0.30616	0.402329206467	0.25394	T	0.321983	0.69303	T	-0.289902	0.09647	T	-0.332235	0.41220	T	0.17789214479454	0.19101	T	0.779322	0.42389	T	0.41673133	0.61874	0.3520637	0.60790	0.41673133	0.61874	0.3520637	0.60790	-4.147	0.25980	T	.	.	0.142	0.39081	B	.;.;.	.;.;.	2.714167	0.35483	19.91	0.99672948587355048	0.78717	0.14265	0.18311	N	ALL	0.118233	0.23128	N	-0.110034208342864	0.36956	2.143225	-0.190355393707094	0.31890	1.809029	0.999999999999643	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.21	3.29	0.36801	0.266000	0.18300	2.057000	0.30374	0.586000	0.30580	0.227000	0.24611	0.986000	0.30841	0.581000	0.30918	0.0:0.3592:0.6407:0.0	11.735	0.51028	724	0.55085	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2087.11	77	chr11	34916677	.	G	T	2087.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.561;DP=1552;ExcessHet=0.1072;FS=1.929;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.218;SOR=0.852	GT:AD:DP:GQ:PL	0/1:39,38:77:99:1007,0,996	19	0	2	0
chr11	47179574	47179574	A	G	exonic	PACSIN3	.	nonsynonymous SNV	PACSIN3:NM_001184974:exon7:c.T616C:p.Y206H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.993	D	0.000	D	1.000	D	2.91	M	0.31	T	0.003	D	0.439	T	0.894	3.923	19.96	5.4	2.052	9.339	15.430	0.691	0.0573984855461	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs555969464	8.35e-05	8.345e-05	4.086e-05	0.0001	0.0014	7.14e-05	6.688e-05	0.0012	0.0011	0	0	0	0	0	0.0002	0	3.312e-05	0.0014	3.285e-05	3.281e-05	2.571e-05	4.032e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.245	0.89746	M	0.31	0.58613	T	-4.71	0.79915	D	0.873	0.87049	0.003	0.82321	D	0.439	0.77796	T	10	0.3047086	0.47993	T	0.057398	0.66949	D	0.691	0.88773	0.449	0.50957	0.888266030214	0.88716	0.62509060996401	0.62442	1.38241626667	0.84808	0.748027861118	0.74156	T	0.712738	0.91819	D	0.0530437	0.58735	T	0.262884	0.86226	D	0.514457225799561	0.33161	D	0.80242	0.44873	T	0.8403122	0.86630	0.7679268	0.86294	0.8403122	0.86632	0.7679268	0.86295	-9.257	0.69337	D	.	.	0.903	0.89681	P	.;.;.	.;.;.	4.969889	0.82239	27.7	0.99828493414403507	0.91026	0.93838	0.59337	D	AEFDGBHCI	0.966975	0.98943	D	0.828797508269392	0.87870	9.370085	0.756373895640223	0.86633	8.952023	0.999999999999998	0.74766	0.712529	0.81865	0	0.703908	0.78521	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.4	5.4	0.77957	9.325000	0.96006	11.265000	0.91209	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.324000	0.25064	1.0:0.0:0.0:0.0	15.430	0.74818	27	0.98276	F-BAR domain;F-BAR domain;F-BAR 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	882.98	54	chr11	47179574	.	A	G	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.630e-01;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.35;ReadPosRankSum=-6.200e-02;SOR=0.555	GT:AD:DP:GQ:PL	0/1:22,32:54:99:897,0,602	20	0	1	0
chr11	47590239	47590239	T	C	exonic	C1QTNF4	.	nonsynonymous SNV	C1QTNF4:NM_031909:exon2:c.A572G:p.D191G,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.673	P	0.42	B	0.006	U	1.000	D	1.5	L	-2.05	D	-0.182	T	0.503	D	0.338	3.902	19.84	4.32	1.694	2.795	13.775	0.406	0.949456277363	0.0011	0.00379393	0.0038	0.0018	0.0064	0	0.0043	0.0046	0	0.0014	0.0017335	268	154602	rs201749016	0.0037	0.0036	0.0038	0.0036	0.0067	0.0036	0.0036	0.0049	0.0043	0.0011	0.0040	0.0021	2.708e-05	0.0008	0.0067	0.0041	0.0035	0.0020	0.0031	0.0031	0.0032	0.0030	0.0054	0.0029	0.0028	0.0044	0.0041	0.0014	0.0166	0.0054	0.0014	0	0.0003	0.0034	0.0041	0.0072	0.0015	0.015	0.52492	D	0.038	0.51421	D	0.673	0.41222	P	0.42	0.45080	B	0.006078	0.32295	U	0.325222	0.999958	0.52396	D	1.95	0.52479	M	-2.05	0.85799	D	-3.81	0.71882	D	0.471	0.50688	-0.1816	0.78141	T	0.503	0.81252	D	10	0.008850932	0.00200	T	0.949456	0.99652	D	0.406	0.71869	.	.	0.61400623346	0.61089	0.5266001439403606	0.52584	.	.	0.925935864449	0.98741	D	0.420358	0.77209	T	-0.259625	0.12943	T	-0.145443	0.59645	T	0.0263482685529125	0.01454	T	.	.	.	0.5145901	0.67947	0.33953166	0.59717	0.5145901	0.67948	0.33953166	0.59717	-5.034	0.37207	T	.	.	0.085	0.10062	B	.	.	3.725956	0.53274	23.3	0.98870082143466709	0.47632	0.89913	0.50694	D	AEFDBCI	.	.	.	0.0745445472570139	0.45277	2.78698	0.118252495510014	0.45481	2.810629	0.999999999997168	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.618803	0.45993	0	.	.	4.32	4.32	0.50899	5.723000	0.68141	5.736000	0.49547	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:0.0:0.0:1.0	13.775	0.62538	10	0.99061	C1q domain|C1q domain|C1q 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	957.11	50	chr11	47590239	.	T	C	957.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.642;DP=767;ExcessHet=0.1072;FS=0.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=1.12;SOR=0.849	GT:AD:DP:GQ:PL	0/1:35,15:50:99:356,0,927	19	0	2	0
chr11	49981809	49981809	C	G	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G693C:p.R231S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.319	B	0.513	P	0.000	U	1.000	N	2.915	M	8.15	T	-1.020	T	0.001	T	0.413	1.865	12.19	1.05	0.607	-0.865	4.568	0.082	0.00101041932848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	7.527e-06	1.367e-06	1.382e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.319	0.32965	B	0.513	0.47989	P	0.000281	0.46590	U	0.000000	0.999892	0.19781	N	3.385	0.91502	M	8.15	0.00286	T	-5.47	0.85617	D	0.443	0.48134	-1.0201	0.23682	T	0.001	0.00467	T	10	0.2346729	0.40512	T	0.00101	0.01096	T	0.082	0.23913	0.546	0.66015	0.208816687407	0.20498	0.25538346230412046	0.25452	0.0143582820659	0.01365	0.280902445316	0.07618	T	0.00991	0.08988	T	-0.164013	0.26145	T	-0.47337	0.25154	T	0.979287505149841	0.72753	D	.	.	.	0.73349935	0.79921	0.5844385	0.75904	0.73349935	0.79923	0.5844385	0.75904	-7.463	0.57350	T	.	.	0.227	0.45966	B	.	.	2.022533	0.25704	16.86	0.99082414752547343	0.52002	0.03228	0.08240	N	AEFI	0.047257	0.07937	N	-0.277187101321075	0.30032	1.670798	-0.409429265658249	0.24720	1.355288	1.23947310401179E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	1.05	0.19280	-1.007000	0.03777	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.574:0.0:0.426	4.568	0.11590	224	0.91330	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	0.03333	125.78	91	chr11	49981809	.	C	G	125.78	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.363e+00;DP=1722;ExcessHet=0.0000;FS=278.882;InbreedingCoeff=-0.1173;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=1.38;ReadPosRankSum=2.72;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,27:91:99:.:.:137,0,1198	14	0	1	6
chr11	50033039	50033039	C	T	exonic	OR4C45	.	unknown	UNKNOWN,	.	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365494271	0.0029	0.0023	0.0028	0.0030	0.0047	0.0029	0.0028	0.0043	0.0041	0.0006	0.0014	0.0092	0	0.0016	0.0046	0.0029	0.0028	0.0047	0.0022	0.0022	0.0019	0.0025	0.0041	0.0020	0.0019	0.0027	0.0024	0.0005	0	0.0027	0.0084	0.0002	0.0017	0.0136	0.0029	0.0019	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	3605.11	137	chr11	50033039	.	C	T	3605.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.93;DP=1494;ExcessHet=0.1072;FS=0.461;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.93;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.350;SOR=0.654	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1887,0,1967	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|2:186,0,51:237:99:0|1:56375918_A_G:1582,2141,9952,0,7810,7657:56375918	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|2:186,0,51:237:99:0|1:56375918_A_G:1582,2141,9952,0,7810,7657:56375918	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|2:186,0,51:237:99:0|1:56375918_A_G:1582,2141,9952,0,7810,7657:56375918	1	0	3	1
chr11	58267476	58267476	G	A	exonic	OR10W1	.	nonsynonymous SNV	OR10W1:NM_207374:exon1:c.C383T:p.T128I,	.	.	427	1079	13	3	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.708	P	0.003	N	0.918	N	2.945	M	6.78	T	-1.056	T	0.004	T	0.416	2.646	14.81	3.81	1.434	0.879	9.591	0.098	.	0.0002	0.0183706	0.0107	0.0002	0.0008	0.0004	0	3.025e-05	0.0101	0.0769	0.0091719	1418	154602	rs200833145	0.0047	0.0047	0.0024	0.0069	0.0751	0.0046	0.0045	0.0736	0.0729	0.0002	6.712e-05	0	5.045e-05	0	0.0035	2.608e-05	0.0046	0.0751	0.0026	0.0026	0.0013	0.0039	0.0766	0.0023	0.0023	0.0701	0.0676	0.0003	0	6.532e-05	0	0.0004	0	0	4.409e-05	0.0009	0.0766	0.005	0.63226	D	0.016	0.60972	D	0.981	0.59675	D	0.708	0.54437	P	0.002641	0.36208	N	0.125321	0.917861	0.27362	N	2.945	0.84822	M	6.78	0.00490	T	-4.25	0.76094	D	0.297	0.33578	-1.0559	0.12803	T	0.004	0.01400	T	10	0.002395302	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.49150466261061965	0.49071	0.174593514633	0.19662	0.302266150713	0.10739	T	0.028591	0.20678	T	-0.501515	0.00561	T	-0.435641	0.29297	T	0.0913901125791992	0.11382	T	0.732227	0.34774	T	0.5716251	0.71150	0.54522276	0.73712	0.5716251	0.71151	0.54522276	0.73713	-8.308	0.63149	D	.	.	0.296	0.52696	B	.	.	3.101195	0.41791	21.4	0.99827754227103138	0.91026	0.90528	0.51778	D	AEFGI	0.273053	0.38855	N	0.286629345381957	0.55468	3.711056	0.159904920510697	0.47669	2.993664	1.71151944038902E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	3.81	0.43020	1.637000	0.36769	3.840000	0.40037	0.676000	0.76740	0.556000	0.27393	1.000000	0.68203	0.533000	0.29776	0.0:0.1371:0.5803:0.2827	9.591	0.38708	285	0.88719	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	5181.11	179	chr11	58267476	.	G	A	5181.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.982;DP=1114;ExcessHet=0.1072;FS=0.373;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.513;SOR=0.720	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2480,0,2107	19	0	2	0
chr11	59151984	59151984	A	G	exonic	FAM111A	.	nonsynonymous SNV	FAM111A:NM_001369457:exon3:c.A316G:p.M106V	Gracile bone dysplasia, Autosomal dominant;Kenny-Caffey syndrome, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1038074	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.0	B	0.067	N	1.000	N	0.41	N	1.74	T	-1.029	T	0.036	T	0.218	0.313	5.695	-2.83	-0.260	-1.250	6.035	0.009	0.00819260521315	.	0.00119808	0.0009	0	0.0002	0	0	0	0.0011	0.0068	0.0007891	122	154602	rs368439990	0.0004	0.0004	0.0002	0.0006	0.0067	0.0004	0.0004	0.0062	0.0061	0	0.0002	0	2.519e-05	0	0.0002	3.597e-06	0.0003	0.0067	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	9.691e-05	0.0031	0.0026	0	0	0.0001	0	0	0	0	0	0.0005	0.0046	0.289	0.15149	T	0.337	0.18178	T	0.0	0.02946	B	0.0	0.01387	B	0.067217	0.02208	N	1.998650	1	0.08975	N	0.805	0.20218	L	1.74	0.26301	T	-0.25	0.11366	N	0.019	0.00279	-1.0289	0.20811	T	0.036	0.15683	T	10	0.0035627782	0.00064	T	0.008193	0.21700	T	0.009	0.00846	.	.	0.119812018005	0.11559	0.19721559047455342	0.19638	0.0209906097131	0.02072	0.226803764701	0.01740	T	0.007848	0.07229	T	-0.604273	0.00137	T	-0.638022	0.09813	T	0.0226370043177556	0.00980	T	0.483852	0.14720	T	0.029295616	0.02401	0.046225064	0.06395	0.037773333	0.04906	0.04982548	0.07695	-3.012	0.10310	T	0.11178651435494924	0.09598	0.081	0.08417	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.663713	0.01407	0.082	0.35223225566541694	0.02199	0.00504	0.02370	N	AEFDGBHCI	0.013024	0.00160	N	-1.31188525488517	0.03538	0.1582227	-1.33812990480827	0.03947	0.185207	0.999995215225326	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	-2.83	0.05425	-1.460000	0.02474	-3.803000	0.02527	-0.064000	0.16601	0.000000	0.06391	0.000000	0.08366	0.564000	0.30507	0.5539:0.0:0.3139:0.1322	6.035	0.18924	617	0.66297	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	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	1669.98	142	chr11	59151984	.	A	G	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.524e+00;DP=842;ExcessHet=0.0000;FS=0.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.029;SOR=0.623	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1684,0,2060	20	0	1	0
chr11	59210719	59210719	G	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.C2147T:p.A716V,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.007	B	0.673	N	0.966	N	1.79	L	1.91	T	-0.997	T	0.059	T	0.17	1.568	11.20	0.613	0.198	0.253	6.748	0.060	.	.	0.00439297	0.0027	0.0002	8.66e-05	0	0	0	0.0011	0.0217	0.0022445	347	154602	rs201054934	0.0011	0.0011	0.0006	0.0016	0.0173	0.0010	0.0010	0.0166	0.0163	0	0.0001	0	5.039e-05	0	0.0004	5.399e-06	0.0012	0.0173	0.0006	0.0006	0.0003	0.0008	0.0172	0.0005	0.0004	0.0142	0.0131	0	0	0.0001	0	0	0	0	0	0.0005	0.0172	0.0	0.91255	D	0.0	0.92824	D	0.005	0.12996	B	0.007	0.12992	B	0.673218	0.10322	N	0.819085	0.966392	0.25896	N	0	0.06538	N	1.91	0.23283	T	-1.12	0.28906	N	0.076	0.05037	-0.9971	0.30728	T	0.059	0.24649	T	10	0.0033496916	0.00058	T	.	.	.	0.060	0.17295	.	.	0.16115917748	0.15686	0.36191757578675365	0.36105	0.0750969908388	0.08427	0.289600133896	0.08864	T	0.001914	0.01327	T	-0.562275	0.00246	T	-0.56682	0.15742	T	0.0754772663341812	0.09398	T	0.60154	0.22486	T	0.13774619	0.31882	0.19734819	0.43512	0.13774619	0.31882	0.19734819	0.43511	-3.204	0.12530	T	.	.	0.104	0.18910	B	.	.	2.023632	0.25718	16.86	0.98801129850801706	0.46461	0.33022	0.24727	N	AEFGBHCI	0.136973	0.25781	N	-0.658609296684416	0.17209	0.8836377	-0.682513987748158	0.17398	0.924929	0.999998044558073	0.74766	0.497415	0.19182	0	0.52208	0.09955	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	5.69	0.613	0.16773	0.236000	0.17745	3.557000	0.39072	0.676000	0.76740	0.050000	0.21411	1.000000	0.68203	0.086000	0.17578	0.552:0.0:0.448:0.0	6.748	0.22659	559	0.71409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	636.98	39	chr11	59210719	.	G	A	636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=722;ExcessHet=0.0000;FS=5.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=-1.389e+00;SOR=1.751	GT:AD:DP:GQ:PL	0/1:17,22:39:99:651,0,377	20	0	1	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|1:84,37:121:99:0|1:61740527_G_C:454,0,1697:61740527	0	0	21	0
chr11	63718745	63718745	T	G	exonic	RTN3	.	nonsynonymous SNV	RTN3:NM_201428:exon2:c.T186G:p.I62M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.904	P	0.772	P	0.808	N	1.000	D	0.805	L	1.76	T	-0.913	T	0.061	T	0.288	2.312	13.69	-1.54	-0.165	-0.179	1.438	0.136	0.0222389951791	.	.	1.853e-05	0	0	0	0	1.702e-05	0	7.044e-05	1.29e-05	2	154602	rs763731605	2.759e-06	2.736e-06	2.743e-06	2.776e-06	2.412e-05	6.5e-07	4.4e-07	4e-06	1.5e-06	0	0	0	0	0	0	9.018e-07	1.672e-05	2.412e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.276e-05	3.024e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.055	0.76473	T	0.845	0.49848	P	0.596	0.56930	P	0.808318	0.06811	N	1.106060	0.999999	0.58761	D	0.975	0.24501	L	1.7	0.26885	T	-0.67	0.19297	N	0.24	0.34228	-0.9127	0.46518	T	0.061	0.25528	T	10	0.080961674	0.13201	T	0.022239	0.45108	T	0.136	0.36778	0.097	0.01334	0.185906805712	0.18197	0.08517926017210543	0.08451	0.232443460949	0.25788	0.493947178125	0.37987	T	0.024634	0.18578	T	-0.189184	0.22377	T	-0.509526	0.21363	T	0.304554067904996	0.25191	T	0.565243	0.19970	T	0.15864563	0.35681	0.09660017	0.22959	0.15864563	0.35681	0.09660017	0.22958	-3.886	0.22092	T	.	.	0.074	0.14706	B	.;.	.;.	1.500767	0.19296	14.19	0.98978208115325339	0.49680	0.15555	0.18969	N	AEFBI	0.075810	0.15235	N	-0.466761428230046	0.23175	1.242708	-0.542714947882255	0.20999	1.133963	0.0950458989012935	0.16218	0.562547	0.31514	0	0.546412	0.12157	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.7	-1.54	0.08130	-0.184000	0.09693	0.288000	0.16841	-0.263000	0.06870	0.233000	0.24675	0.420000	0.24802	0.784000	0.37066	0.1368:0.2628:0.1404:0.46	1.438	0.02207	547	0.72440	.;.	.	.	.	.	.	Uncertain significance	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	957.98	87	chr11	63718745	.	T	G	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.579e+00;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=1.13;SOR=0.685	GT:AD:DP:GQ:PL	0/1:45,42:87:99:972,0,1306	20	0	1	0
chr11	64293202	64293202	A	T	exonic	KCNK4	.	nonsynonymous SNV	KCNK4:NM_001317090:exon2:c.A184T:p.I62F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.228	B	0.146	B	0.027	N	1.000	D	1.845	L	2.33	T	-1.093	T	0.042	T	0.402	4.016	20.6	2.0	0.733	2.935	7.302	0.114	0.0100140740175	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	.	1.526e-06	5.472e-06	1.485e-06	1.569e-06	0.0002	2.5e-07	1e-07	.	.	0	0	0	3.043e-05	0	0.0002	0	0	0	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	0.002	0.72154	D	0.04	0.50809	D	0.228	0.30509	B	0.146	0.33945	B	0.027447	0.25754	N	0.365849	0.999989	0.81001	D	2.635	0.77114	M	2.33	0.16492	T	-3.3	0.65858	D	0.501	0.53357	-1.0933	0.05005	T	0.042	0.17910	T	10	0.3196727	0.49351	T	0.010014	0.26035	T	0.114	0.32008	0.613	0.74652	0.515603885326	0.51203	0.8260737075891041	0.82565	0.413070297786	0.42027	0.516415297985	0.41121	T	0.261883	0.63340	T	-0.122434	0.32728	T	-0.413644	0.31806	T	0.927231967449188	0.58997	D	0.731927	0.34732	T	0.4832334	0.66096	0.48480293	0.70178	0.4832334	0.66097	0.48480293	0.70178	-8.297	0.63075	D	.	.	0.299	0.52897	B	.;.;.	.;.;.	3.505163	0.49059	22.7	0.98711869559392995	0.45069	0.93614	0.58701	D	AEFGBCI	0.521006	0.54562	D	-0.122734121146155	0.36404	2.103759	-0.0641605564813299	0.36883	2.152272	0.999966498608732	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.4	2.0	0.25495	1.163000	0.31408	5.740000	0.49568	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.981000	0.58702	0.8041:0.0:0.1959:0.0	7.302	0.25600	652	0.62785	.;.;.	.	.	.	.	.	Uncertain significance	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	566.98	61	chr11	64293202	.	A	T	566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=778;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=0.328;SOR=0.542	GT:AD:DP:GQ:PL	0/1:38,23:61:99:581,0,946	20	0	1	0
chr11	64556141	64556141	C	T	exonic	SLC22A11	.	stopgain	SLC22A11:NM_001307985:exon1:c.C142T:p.R48X	.	.	5	1514	3	0	0	3	0.000989772	.	.	3213342	SLC22A11-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.014	U	1.000	A	.	.	.	.	.	.	.	.	.	4.383	23.2	2.87	0.942	2.023	9.601	.	.	0.0028	0.000399361	0.0026	0.0009	0.0019	0	0.0011	0.0041	0.0022	6.056e-05	0.0027943	432	154602	rs35008345	0.0042	0.0042	0.0044	0.0041	0.0047	0.0042	0.0041	0.0046	0.0046	0.0010	0.0016	0.0132	2.519e-05	0.0019	0.0005	0.0047	0.0060	0.0002	0.0027	0.0027	0.0028	0.0025	0.0041	0.0025	0.0024	0.0037	0.0036	0.0007	0	0.0012	0.0173	0	0.0012	0	0.0041	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.014288	0.28577	U	0.323968	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.795	0.80180	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232848	0.76987	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.	High;.;.	7.433979	0.96513	36	0.99797399377581597	0.88283	0.83020	0.42175	D	AEFBI	0.169521	0.29636	N	0.351976418673768	0.58845	4.059226	0.0928819393661997	0.44190	2.705561	0.99983096377365	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	2.87	0.32523	1.921000	0.39665	-0.047000	0.12595	0.548000	0.25860	1.000000	0.71638	0.002000	0.18203	0.085000	0.17524	0.0:0.8928:0.0:0.1072	9.601	0.38768	394	0.83065	.;.;.	.	.	.	.	.	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	1814.98	141	chr11	64556141	.	C	T	1814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=849;ExcessHet=0.0000;FS=2.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.00;SOR=0.927	GT:AD:DP:GQ:PL	0/1:72,69:141:99:1829,0,1752	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:12,0,11,0:23:99:424,462,968,0,506,473,462,968,506,968	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:12,0,11,0:23:99:424,462,968,0,506,473,462,968,506,968	10	0	4	0
chr11	65780320	65780320	A	G	exonic	AP5B1	.	nonsynonymous SNV	AP5B1:NM_138368:exon2:c.T173C:p.M58T,	.	.	419	1085	18	0	0	18	0.00822669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00179712	0.0075	0.0009	0.0041	0	0	0.0076	0	0.0294	0.0016365	253	154602	rs200798182	0.0017	0.0018	0.0015	0.0019	0.0083	0.0016	0.0016	0.0078	0.0076	0.0001	0.0006	0.0402	0	0	0.0058	0.0005	0.0046	0.0083	0.0016	0.0016	0.0016	0.0017	0.0064	0.0015	0.0014	0.0046	0.0040	2.405e-05	0	0.0003	0.0421	0.0002	0	0.0034	0.0009	0.0043	0.0064	0.012	0.54683	D	0.036	0.52060	D	.	.	.	.	.	.	.	.	.	.	0.999716	0.20609	N	0	0.06538	N	.	.	.	-0.62	0.18248	N	0.126	0.11912	.	.	.	.	.	.	.	0.0055917203	0.00124	T	.	.	.	.	.	.	.	0.51891315781	0.51535	0.21808774148507332	0.21724	0.0740337698176	0.08297	0.506674289703	0.39758	T	0.001255	0.00742	T	-0.47688	0.00772	T	-0.453357	0.27327	T	.	.	.	0.39616	0.09972	T	0.2717893	0.50249	0.21979602	0.46732	0.2717893	0.50249	0.21979602	0.46731	-1.205	0.01258	T	.	.	0.170	0.37388	B	.	.	2.631431	0.34221	19.57	0.92804273183337616	0.22328	0.06912	0.12938	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999999567	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	5.07	3.87	0.43823	0.454000	0.21539	8.877000	0.78338	0.651000	0.53179	0.004000	0.16614	1.000000	0.68203	0.557000	0.30341	0.8265:0.0:0.0:0.1735	8.470	0.32139	281	0.88893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	897.98	94	chr11	65780320	.	A	G	897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.021e+00;DP=838;ExcessHet=0.0000;FS=2.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=2.38;SOR=0.446	GT:AD:DP:GQ:PL	0/1:51,43:94:99:912,0,1256	20	0	1	0
chr11	66336090	66336090	G	A	exonic	RIN1	.	nonsynonymous SNV	RIN1:NM_001363559:exon2:c.C71T:p.P24L	.	.	410	1105	7	0	0	7	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.982	D	0.003	N	1.000	D	1.15	L	2.94	T	-1.143	T	0.046	T	0.298	2.299	13.65	3.34	1.894	6.293	10.357	0.183	.	0.0002	0.000798722	0.0109	0	0	0	0	0.0029	0	0.0247	0.0007697	119	154602	rs371199660	0.0050	0.0047	0.0049	0.0050	0.0055	0.0049	0.0048	0.0054	0.0053	0.0007	0.0008	0.0006	2.903e-05	0.0064	0.0015	0.0055	0.0028	0.0053	0.0034	0.0034	0.0032	0.0036	0.0052	0.0032	0.0031	0.0048	0.0046	0.0007	0	0.0014	0.0006	0	0.0090	0	0.0052	0.0005	0.0033	0.111	0.29029	T	0.012	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.003226	0.35241	N	0.110360	0.999557	0.81001	D	1.64	0.41913	L	2.94	0.09728	T	0.35	0.03761	N	0.396	0.43706	-1.1432	0.01243	T	0.046	0.19879	T	9	0.0075613856	0.00172	T	.	.	.	0.183	0.45592	.	.	0.399596177874	0.39575	0.3802928041414899	0.37944	0.256483883154	0.28223	0.664591312408	0.62065	T	0.214839	0.57654	T	-0.51843	0.00449	T	-0.516236	0.20678	T	0.0472703351430132	0.05014	T	0.80082	0.44648	T	0.053354707	0.10085	0.10070237	0.24085	0.053354707	0.10084	0.10070237	0.24085	-3.717	0.19569	T	.	.	0.097	0.15877	B	.	.	3.521967	0.49371	22.8	0.99394596498635646	0.62519	0.57728	0.30453	D	AEFDGBCIJ	0.732977	0.67956	D	0.122161023152091	0.47497	2.974699	-0.0274430851574767	0.38479	2.267707	0.999999999999094	0.74766	0.455138	0.09556	0	0.48864	0.07623	0	0.606884	0.38211	0	0.581474	0.35302	0	.	.	3.34	3.34	0.37357	2.598000	0.45887	8.295000	0.76923	0.676000	0.76740	0.397000	0.26145	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	10.357	0.43154	63	0.97314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	685.98	41	chr11	66336090	.	G	A	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=1.56;SOR=0.650	GT:AD:DP:GQ:PL	0/1:18,23:41:99:700,0,467	20	0	1	0
chr11	67419640	67419640	C	T	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon5:c.C637T:p.P213S	.	.	401	1119	2	0	0	2	0.000892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.932	P	0.647	P	.	.	1.000	N	0.895	L	1.01	T	-0.899	T	0.105	T	0.135	1.882	12.25	4.38	1.253	0.673	6.902	0.044	.	.	0.00439297	0.0033	0	0	0	0	0	0	0.0188	0.0017658	273	154602	rs370181519	0.0009	0.0009	0.0005	0.0012	0.0141	0.0008	0.0008	0.0134	0.0132	9.047e-05	0	0	0	1.963e-05	0	5.427e-06	0.0012	0.0141	0.0005	0.0005	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	4.812e-05	0	0	0	0	0	0	1.47e-05	0	0.0139	0.005	0.65419	D	0.107	0.40909	T	0.689	0.41609	P	0.223	0.37929	B	.	.	.	.	0.612257	0.30850	N	0.975	0.24501	L	0.97	0.44065	T	-2.92	0.61580	D	0.237	0.26717	-0.8989	0.48105	T	0.105	0.38390	T	9	0.0035881102	0.00065	T	.	.	.	0.044	0.11924	0.374	0.38667	0.326074293725	0.32213	0.43675181453347056	0.43592	0.117064650146	0.13196	0.428976327181	0.29069	T	0.004581	0.03988	T	-0.569554	0.00223	T	-0.578577	0.14673	T	0.062535528833052	0.07562	T	0.69713	0.31478	T	0.10096236	0.23845	0.14372553	0.34147	0.10096236	0.23845	0.14372553	0.34146	-5.864	0.50062	T	.	.	0.190	0.40873	B	.;.;.	.;.;.	2.721671	0.35600	19.94	0.99370263476264842	0.61411	0.21484	0.21418	N	AEFGBI	0.111511	0.22075	N	-0.118099872763462	0.36606	2.118094	-0.128119685846944	0.34262	1.968833	0.999995115193195	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	5.29	4.38	0.52019	0.736000	0.25798	3.245000	0.36991	0.599000	0.40250	0.006000	0.17386	0.997000	0.33255	0.911000	0.44643	0.1723:0.7383:0.0:0.0895	6.902	0.23469	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1252.98	66	chr11	67419640	.	C	T	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=795;ExcessHet=0.0000;FS=5.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.98;ReadPosRankSum=2.29;SOR=1.143	GT:AD:DP:GQ:PL	0/1:22,44:66:99:1267,0,503	20	0	1	0
chr11	68019778	68019778	G	A	exonic	ALDH3B1	.	nonsynonymous SNV	ALDH3B1:NM_001030010:exon5:c.G433A:p.D145N	.	.	408	1101	12	1	0	14	0.00631769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0265866743732	0.0005	.	0.0006	0	0.0011	0	0	0.0007	0	0.0009	0.0005886	91	154602	rs199800006	0.0005	0.0005	0.0004	0.0006	0.0064	0.0005	0.0005	0.0048	0.0042	0.0001	0.0012	0.0030	0	0	0.0064	0.0004	0.0010	0.0010	0.0006	0.0006	0.0007	0.0006	0.0024	0.0005	0.0005	0.0017	0.0015	0.0002	0	0.0024	0.0035	0	0	0.0102	0.0005	0.0009	0.0004	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.83576	.	.	.	.	.	.	.	0.13522965	0.25734	T	0.026587	0.49484	D	.	.	.	.	0.615755702487	0.61265	0.7501604394370148	0.74963	.	.	0.641518831253	0.58780	T	0.49043	0.81523	T	-0.175585	0.24394	T	-0.0655253	0.65944	T	.	.	.	0.962904	0.97356	D	0.539987	0.69396	0.6602453	0.80094	0.539987	0.69397	0.6602453	0.80095	-8.444	0.64057	D	.	.	0.453	0.72254	A	.;.;.;.;.	.;.;.;.;.	5.545650	0.92002	32	0.91323325138506806	0.20585	0.96671	0.70321	D	AEFGBCI	0.937110	0.93442	D	.	.	.	.	.	.	0.999999999320779	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.062806	0.01542	0	.	.	3.06	3.06	0.34374	6.587000	0.73960	9.378000	0.80495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.779000	0.36868	0.0:0.0:1.0:0.0	12.028	0.52678	783	0.47268	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase 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	1078.98	89	chr11	68019778	.	G	A	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=775;ExcessHet=0.0000;FS=2.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-4.500e-02;SOR=0.799	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1093,0,1099	20	0	1	0
chr11	68070217	68070217	T	A	exonic	CHKA	.	nonsynonymous SNV	CHKA:NM_001376220:exon5:c.A727T:p.N243Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.75	P	0.324	B	0.000	D	1.000	D	1.575	L	0.48	T	-0.932	T	0.137	T	0.509	2.595	14.64	4.14	0.835	2.560	8.386	0.189	0.0586293367493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.425	0.43260	B	0.324	0.41853	B	0.000003	0.62929	D	0.100975	0.999996	0.58761	D	2.07	0.56829	M	0.48	0.55945	T	-4.6	0.78976	D	0.648	0.65930	-0.9317	0.43889	T	0.137	0.45356	T	10	0.54052204	0.63693	D	0.058629	0.67386	D	0.189	0.46613	0.625	0.76028	0.486257639955	0.48257	0.8039588721996498	0.80349	1.46632229311	0.86451	0.395748585463	0.24477	T	0.272527	0.64491	T	-0.0114371	0.50065	T	-0.254205	0.49402	T	0.980746328830719	0.73525	D	0.938306	0.76795	D	0.5840343	0.71828	0.44359836	0.67570	0.5840343	0.71829	0.44359836	0.67571	-9.755	0.73075	D	.	.	0.215	0.48541	B	.;.	.;.	3.267919	0.44723	22.0	0.98492086806567891	0.42108	0.98446	0.82862	D	AEFBI	0.429091	0.49235	N	0.0532610602778216	0.44291	2.705959	0.117198607211136	0.45428	2.806166	0.985506799101284	0.30899	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	4.14	0.47821	2.579000	0.45725	2.307000	0.32053	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1527:0.0:0.8473	8.386	0.31662	789	0.46346	.;.	.	.	.	.	.	Uncertain significance	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	1049.98	76	chr11	68070217	.	T	A	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.289e+00;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-8.510e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1064,0,729	20	0	1	0
chr11	70490353	70490353	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon8:c.C710T:p.T237M	.	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.857	P	0.001	D	0.997	D	1.39	L	3.08	T	-0.636	T	0.272	T	0.344	3.705	18.82	4.63	2.109	8.741	17.500	0.150	0.0178312256081	.	.	9.065e-05	0	0.0003	0	0	8.998e-05	0	0.0001	7.12e-05	11	154602	rs782271440	3.147e-05	3.215e-05	3.403e-05	2.888e-05	0.0005	2.412e-05	2.157e-05	0.0001	7.541e-05	5.974e-05	6.708e-05	0	0	0	0.0005	2.698e-05	1.656e-05	8.115e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-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	0.077	0.42783	T	0.088	0.42794	T	0.997	0.70673	D	0.857	0.61067	P	0.000926	0.41028	D	0.249192	0.997257	0.43744	D	.	.	.	2.37	0.58613	T	-2.12	0.48523	N	0.535	0.62188	-0.6362	0.63308	T	0.272	0.64318	T	10	0.23871708	0.40999	T	0.017831	0.39680	T	0.150	0.39571	.	.	0.322284741503	0.31843	0.5934812246955521	0.59278	1.14325732967	0.78998	0.669621050358	0.62784	T	0.030714	0.24991	T	-0.2082	0.19633	T	-0.277162	0.47095	T	0.28560483455658	0.24406	T	0.978302	0.93146	D	.	.	.	.	.	.	.	.	-4.614	0.48004	T	.	.	0.127	0.30076	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.456051	0.91107	32	0.9980375986475476	0.88817	0.95981	0.66997	D	AEFDGBHCI	0.882562	0.81077	D	0.473941887465156	0.65575	4.839564	0.465575854953674	0.65724	4.860001	0.999999983537834	0.74766	0.634777	0.41761	0	0.762322	0.99553	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	8.816000	0.91604	11.534000	0.93101	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	17.500	0.87625	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	1	0	0	0	0	0	0	0.02381	1719.98	132	chr11	70490353	.	G	A	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=830;ExcessHet=0.0000;FS=3.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-7.090e-01;SOR=1.014	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1734,0,1411	20	0	1	0
chr11	72018230	72018230	G	A	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon12:c.C931T:p.R311C	Leukemia, acute promyelocytic, somatic	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	1.975	M	1.93	T	-0.267	T	0.361	T	0.763	3.586	18.27	4.56	1.288	3.667	15.935	0.259	0.105483975382	0.0003	0.000199681	0.0005	9.61e-05	8.637e-05	0	0	0.0005	0	0.0016	0.0004075	63	154602	rs139359161	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	0.0002	0.0002	0	0	3.744e-05	0.0023	0.0003	0.0006	0.0010	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0001	0	0	0	0	0.0004	0.0024	0.0002	0.001	0.91255	D	0.007	0.83351	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.999369	0.46798	D	2.67	0.78151	M	1.93	0.60973	T	-3.68	0.82341	D	0.557	0.58713	-0.2672	0.75888	T	0.361	0.72262	T	10	0.043380916	0.03182	T	0.105484	0.78062	D	0.259	0.57090	.	.	0.681978304311	0.67926	0.28157395928230106	0.28070	1.1501580295	0.79175	0.62627863884	0.56617	T	0.349035	0.73358	T	-0.132138	0.31151	T	0.00733731	0.70811	D	0.0744947297370672	0.09267	T	0.976702	0.92496	D	0.57479817	0.71323	0.37705445	0.62814	0.57479817	0.71324	0.37705445	0.62814	-7.051	0.56302	T	.	.	0.379	0.58375	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.364748	0.89958	31	0.99891530006459128	0.96513	0.92027	0.54783	D	AEFDGBCI	0.696705	0.65495	D	0.346426547617499	0.58550	4.028038	0.290245974325366	0.54969	3.660528	0.99998566360079	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.48	4.56	0.55644	3.775000	0.55055	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.1357:0.8643:0.0	15.935	0.79482	533	0.73433	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1093.98	104	chr11	72018230	.	G	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=804;ExcessHet=0.0000;FS=6.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=0.553;SOR=1.360	GT:AD:DP:GQ:PL	0/1:60,44:104:99:1108,0,1428	20	0	1	0
chr11	72195749	72195749	T	C	splicing	FOLR1	NM_016725:exon4:c.493+2T>C;NM_016724:exon5:c.493+2T>C;NM_000802:exon4:c.493+2T>C;NM_016729:exon3:c.493+2T>C	.	.	Neurodegeneration due to cerebral folate transport deficiency, Autosomal recessive	.	0	1478	43	1	0	45	0.014995	0.9990	0.734	101647	Cerebral_folate_transport_deficiency|not_provided|FOLR1-related_disorder|Inborn_genetic_diseases|Seizure	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068,Orphanet:217382|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.275	10.16	5.08	2.018	7.199	13.986	.	.	0.0021	0.00339457	0.0034	0.0005	0.0028	0.0001	0.0006	0.0021	0.0066	0.0137	0.0032018	495	154602	rs144637717	0.0028	0.0028	0.0024	0.0032	0.0130	0.0027	0.0027	0.0123	0.0121	0.0002	0.0015	0.0068	2.519e-05	0.0004	0.0085	0.0022	0.0035	0.0130	0.0018	0.0018	0.0014	0.0022	0.0137	0.0016	0.0015	0.0111	0.0101	0.0004	0	0.0009	0.0052	0	0.0007	0	0.0020	0.0033	0.0137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242793	0.14994	T	-0.109855	0.62623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.260422	0.64748	24.7	0.97734597925983624	0.35640	0.98800	0.87016	D	AEFDGBI	.	.	.	0.941507637658203	0.93639	12.17477	0.736215265635132	0.85123	8.487886	0.999912376900708	0.45857	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	0.924668	0.58650	5.08	5.08	0.68373	4.313000	0.58952	4.786000	0.44868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.0:0.0:1.0	13.986	0.63851	804	0.43891	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1659.98	137	chr11	72195749	.	T	C	1659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.052e+00;DP=834;ExcessHet=0.0000;FS=2.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=1.61;SOR=0.498	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1674,0,1762	20	0	1	0
chr11	73311742	73311742	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C3104T:p.P1035L,	.	.	420	1101	1	0	0	1	0.000453926	.	.	2697877	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.087	B	0.011	B	0.069	N	0.576	D	0.345	N	0.23	T	-0.961	T	0.088	T	0.174	0.898	8.648	2.64	0.115	1.616	12.775	0.036	0.0244447108017	7.7e-05	.	0.0001	0	8.711e-05	0	0	1.547e-05	0	0.0008	9.7e-05	15	154602	rs145994191	3.423e-05	3.42e-05	1.09e-05	5.779e-05	0.0005	2.633e-05	2.376e-05	0.0004	0.0003	0	2.236e-05	0	0	0	0.0002	4.496e-06	1.656e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.323	0.18959	T	0.087	0.24971	B	0.011	0.15521	B	0.069155	0.21624	N	0.390390	0.576217	0.32336	D	0.975	0.24501	L	0.23	0.59717	T	-1.42	0.34992	N	0.128	0.12198	-0.9614	0.38916	T	0.088	0.34105	T	10	0.03945282	0.02436	T	0.024445	0.47438	T	0.036	0.09122	.	.	0.282416095408	0.27849	0.2592124984366433	0.25835	0.429185509534	0.43212	0.423824369907	0.28363	T	0.017534	0.14289	T	-0.401577	0.02261	T	-0.45713	0.26912	T	0.0572123047920712	0.06723	T	0.608739	0.23025	T	0.047697574	0.08195	0.03729556	0.03352	0.047697574	0.08194	0.03729556	0.03352	-4.243	0.27370	T	.	.	0.071	0.03811	B	.	.	1.290276	0.16911	12.84	0.78332987171703727	0.12255	0.55602	0.29905	D	AEFDGBHI	0.185150	0.31248	N	-0.775730935369394	0.13944	0.6907341	-0.805730421761771	0.14356	0.7497261	0.999998480690561	0.74766	0.740716	0.97744	0	0.586065	0.33999	0	0.0	0.00061	3	0.638787	0.57140	0	.	.	5.53	2.64	0.30504	1.658000	0.36992	0.424000	0.18252	-0.172000	0.11096	0.298000	0.25306	0.007000	0.19602	0.698000	0.34080	0.0:0.7947:0.0:0.2053	12.775	0.56820	633	0.64743	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1455.98	111	chr11	73311742	.	C	T	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=1.08;SOR=0.739	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1470,0,1213	20	0	1	0
chr11	78073127	78073127	G	A	exonic	NDUFC2;NDUFC2-KCTD14	.	nonsynonymous SNV	NDUFC2-KCTD14:NM_001203260:exon2:c.C181T:p.L61F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.91	D	0.002	N	1.000	D	1.87	L	0.52	T	-0.614	T	0.294	T	0.621	2.209	13.34	5.41	2.826	2.370	18.129	0.207	0.0152927396069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.056	0.49390	T	0.981	0.59675	D	0.91	0.64641	D	0.001730	0.38161	N	0.225304	0.997377	0.81001	D	1.24	0.30952	L	0.52	0.55266	T	-1.81	0.45222	N	0.298	0.39861	-0.6135	0.64258	T	0.294	0.66536	T	10	0.3948178	0.55150	T	0.015293	0.35936	T	0.207	0.49555	0.713	0.84872	0.422404719673	0.41854	0.39554031383581617	0.45522	1.60170403797	0.88696	0.471053600311	0.34825	T	0.012824	0.22643	T	0.0064378	0.52540	T	-0.228529	0.51914	T	0.894019484519958	0.54533	D	0.711729	0.32279	T	0.26298738	0.58596	0.3322656	0.59435	0.26298738	0.58596	0.3322656	0.59434	-4.531	0.31292	T	.	.	0.393	0.60035	A	.;.;.;.;.	.;.;.;.;.	2.988644	0.39896	21.1	0.99742894030052776	0.83629	0.83901	0.42992	D	AEFBI	0.434239	0.49537	N	0.535680113664548	0.69216	5.325468	0.504055823415607	0.68263	5.195942	0.99999788602083	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	5.41	0.78313	1.816000	0.38630	7.553000	0.60314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	0.0:0.0:1.0:0.0	18.129	0.89525	601	0.67921	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	241.89	39	chr11	78073127	.	G	C,A	241.89	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=-6.900e-02;DP=670;ExcessHet=1.2264;FS=167.558;InbreedingCoeff=-0.2704;MLEAC=5,3;MLEAF=0.192,0.115;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=0.524;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:23,0,16:39:94:.:.:94,156,487,0,331,290	8	0	3	8
chr11	83874444	83874444	A	G	exonic	DLG2	.	nonsynonymous SNV	DLG2:NM_001142700:exon8:c.T917C:p.L306P	.	.	439	1075	7	1	0	9	0.0041686	.	.	247068	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.966	D	0.975	D	0.001	D	1.000	D	0.345	N	0.67	T	-0.909	T	0.153	T	0.904	2.261	13.52	5.56	2.108	4.851	12.100	0.178	0.0730335867839	0.0005	0.000599042	0.0012	0.0001	0.0006	0	0	0.0008	0.0022	0.0048	0.0010349	160	154602	rs201235627	0.0009	0.0009	0.0007	0.0011	0.0074	0.0009	0.0008	0.0056	0.0050	0.0003	0.0005	3.863e-05	0	0	0.0074	0.0006	0.0009	0.0053	0.0007	0.0007	0.0006	0.0008	0.0066	0.0006	0.0005	0.0048	0.0042	4.809e-05	0	0.0003	0	0	0	0.0102	0.0008	0.0019	0.0066	0.155	0.48186	T	0.262	0.27056	T	0.518	0.56202	P	0.092	0.73362	B	0.000548	0.43413	D	0.000000	1	0.81001	D	0.55	0.14455	N	0.67	0.52187	T	-0.12	0.11547	N	0.746	0.78546	-0.9095	0.46916	T	0.153	0.48188	T	9	0.008063883	0.00183	T	0.073034	0.71685	D	0.178	0.44724	.	.	0.886961116542	0.88584	0.42131861621044103	0.42047	2.04949041929	0.94333	0.800439596176	0.82029	T	0.063611	0.32220	T	-0.109144	0.34909	T	0.0716742	0.75023	D	0.0460801531457878	0.04799	T	0.889011	0.62583	D	0.22135021	0.44710	0.31501848	0.57490	0.24573173	0.47534	0.36571014	0.61914	-2.911	0.12153	T	.	.	0.109	0.29588	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.624875	0.73477	26.0	0.99449510034184918	0.65223	0.92614	0.56127	D	AEFI	0.884219	0.81374	D	0.00486811737786505	0.42077	2.528462	0.194604541320271	0.49551	3.156914	0.0548855013654547	0.14993	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.949000	0.63298	11.080000	0.85733	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.100	0.53077	837	0.37933	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	203.98	37	chr11	83874444	.	A	G	203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=767;ExcessHet=0.0000;FS=1.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.51;ReadPosRankSum=0.146;SOR=0.387	GT:AD:DP:GQ:PL	0/1:25,12:37:99:218,0,658	20	0	1	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,100,0:103:99:.:.:4208,305,0,4222,312,4321	0	17	3	0
chr11	106010469	106010469	G	A	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.C449T:p.P150L	.	.	.	.	.	.	.	.	.	.	.	2383066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.597	P	0.084	B	0.010	N	1.000	D	1.39	L	.	.	-0.795	T	0.161	T	0.407	0.898	8.649	5.58	2.782	5.706	19.917	0.081	0.00609071524846	.	.	1.692e-05	0	0	0	0.0002	1.521e-05	0	0	1.94e-05	3	154602	rs776492658	4.381e-05	4.378e-05	3.678e-05	5.092e-05	2.989e-05	3.511e-05	3.195e-05	2.083e-05	1.783e-05	2.989e-05	0	0	0	0.0005	0	2.879e-05	4.971e-05	2.323e-05	2.63e-05	2.628e-05	1.285e-05	4.039e-05	2.415e-05	8.15e-06	5.14e-06	.	.	2.415e-05	0	0	0	0	0.0003	0	0	0	0	0.232	0.68238	T	0.238	0.24549	T	0.597	0.39250	P	0.084	0.29270	B	0.010385	0.29945	N	0.378699	1	0.81001	D	1.04	0.26193	L	.	.	.	0.19	0.24460	N	0.361	0.63544	-0.7947	0.55456	T	0.161	0.49581	T	9	0.11376026	0.21381	T	0.006091	0.15934	T	0.081	0.23632	0.317	0.29419	0.301122078929	0.29733	0.402031483724579	0.40119	0.810766366469	0.66716	0.562687635422	0.47646	T	0.020714	0.16257	T	-0.100953	0.36268	T	-0.201261	0.54527	T	0.0740211019552082	0.09205	T	0.875712	0.58780	D	0.07611204	0.17193	0.060212784	0.11430	0.07611204	0.17193	0.060212784	0.11430	-2.989	0.10063	T	.	.	0.085	0.55438	B	.;.;.	.;.;.	3.299652	0.45293	22.1	0.75917894308196421	0.11262	0.95736	0.65935	D	AEFBI	0.388889	0.46832	N	0.318268505511594	0.57086	3.874751	0.446618151191968	0.64499	4.706611	0.999990013991147	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.58	5.58	0.84361	5.614000	0.67376	11.777000	0.96009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.917	0.97067	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1112.98	98	chr11	106010469	.	G	A	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.032;SOR=0.603	GT:AD:DP:GQ:PL	0/1:57,41:98:99:1127,0,1233	20	0	1	0
chr11	117482147	117482147	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_001367904:exon12:c.C2375T:p.T792I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.516	P	0.53	P	.	.	1.000	D	0.975	L	1.03	T	-0.878	T	0.134	T	0.71	2.310	13.68	3.97	2.047	9.648	16.287	0.317	0.0144765869956	.	.	4.195e-05	0	0	0	0	1.52e-05	0	0.0002	3.88e-05	6	154602	rs752706168	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0002	8.31e-06	6.7e-06	0.0001	9.45e-05	0	0	0	0	0	0	2.698e-06	0	0.0002	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.068	0.41364	T	0.149	0.32568	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.03	0.40469	T	-3.05	0.62976	D	0.864	0.86085	-0.8785	0.49880	T	0.134	0.44720	T	9	0.58014935	0.65803	D	0.014477	0.34624	T	0.317	0.63904	.	.	0.634919264937	0.63192	0.6417138322301863	0.64106	1.16613596028	0.79628	0.725578963757	0.70861	T	.	.	.	-0.153766	0.27723	T	-0.162459	0.58129	T	0.434599697589874	0.30230	T	0.890911	0.62511	D	.	.	.	.	.	.	.	.	-8.062	0.61492	D	.	.	0.228	0.46073	B	.;.	.;.	4.870631	0.79790	27.2	0.9888510188596028	0.47895	0.98582	0.84349	D	AEFDBI	0.946108	0.95518	D	0.213293817879798	0.51842	3.362504	0.238401740119774	0.51992	3.377241	0.999999982113657	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.97	3.97	0.45241	9.994000	0.99266	11.703000	0.94531	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	16.287	0.82555	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1195.98	121	chr11	117482147	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.000e-03;DP=838;ExcessHet=0.0000;FS=2.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.951;SOR=0.471	GT:AD:DP:GQ:PL	0/1:72,49:121:99:1210,0,1971	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	0/2:72,0,75:147:99:.:.:2855,3071,6020,0,2949,2717	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	0/2:72,0,75:147:99:.:.:2855,3071,6020,0,2949,2717	1	0	0	0
chr11	120330187	120330187	A	G	exonic	TLCD5	.	nonsynonymous SNV	TLCD5:NM_001198675:exon2:c.A107G:p.N36S	.	.	0	225	1	0	0	1	0.00221729	.	.	3346140	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.996	D	0.921	D	0.000	D	1.000	D	1.36	L	-1.87	D	0.001	D	0.609	D	0.235	3.960	20.3	4.91	1.069	9.220	13.445	0.601	0.0349769064747	.	0.000399361	0.0008	0.0002	0	0	0	0.0003	0.0024	0.0028	0.0002846	44	154602	rs527644222	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	3.04e-05	7.821e-05	0.0018	0	0	0.0014	4.757e-05	0.0002	0.0025	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	0	0	6.548e-05	0.0023	0	0	0	4.411e-05	0.0005	0.0029	0.095	0.34444	T	0.0	0.92824	D	0.996	0.68779	D	0.921	0.65636	D	0.000000	0.84330	D	0.039896	1	0.81001	D	1.865	0.49290	L	-1.87	0.84415	D	-2.44	0.53420	N	0.737	0.78737	0.001	0.82287	D	0.609	0.86157	D	10	0.072579324	0.10852	T	0.034977	0.56039	D	0.601	0.84237	.	.	0.698452811345	0.69584	0.809407120335403	0.80895	0.409815521761	0.41790	0.554991185665	0.46561	T	0.656862	0.89654	D	-0.282554	0.10399	T	-0.184813	0.56074	T	0.0758827360547949	0.09452	T	0.960404	0.85375	D	0.16846016	0.37305	0.17105156	0.39259	0.16846016	0.37305	0.17105156	0.39258	-7.965	0.66882	D	.	.	0.496	0.65718	A	.;.	.;.	4.392426	0.67793	25.1	0.99858961551093162	0.93729	0.97257	0.73623	D	AEFBHCI	0.930876	0.91885	D	0.527565484461839	0.68727	5.256989	0.556267161321514	0.71836	5.715715	0.999999997020648	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	6.06	4.91	0.63897	9.207000	0.94192	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8692:0.1308:0.0:0.0	13.445	0.60584	301	0.87912	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2935.11	149	chr11	120330187	.	A	G	2935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.93;DP=966;ExcessHet=0.1072;FS=0.916;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=0.896;SOR=0.778	GT:AD:DP:GQ:PL	0/1:94,55:149:99:1406,0,2523	19	0	2	0
chr11	124753693	124753693	C	T	exonic	ESAM	.	nonsynonymous SNV	ESAM:NM_138961:exon7:c.G1126A:p.V376M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.305	M	0.76	T	-0.572	T	0.181	T	0.229	4.315	22.6	5.17	2.553	2.216	15.935	0.171	.	0.0067	0.00499201	0.0020	0.0225	0.0003	0	0	1.503e-05	0	0	0.001824	282	154602	rs115917151	0.0006	0.0006	0.0007	0.0005	0.0223	0.0006	0.0005	0.0210	0.0205	0.0223	0.0009	0	0	0	0.0003	5.396e-06	0.0011	5.797e-05	0.0059	0.0059	0.0063	0.0055	0.0208	0.0056	0.0055	0.0197	0.0192	0.0208	0	0.0016	0	0	0	0	4.41e-05	0.0043	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	2.9	0.83903	M	0.76	0.49919	T	-2.16	0.48850	N	0.22	0.24634	-0.5720	0.65935	T	0.181	0.52782	T	10	0.007961243	0.00181	T	.	.	.	0.171	0.43483	.	.	0.634567249438	0.63156	0.5435755604129361	0.54283	0.2243977869	0.24973	0.603389203548	0.53382	T	0.375193	0.73884	T	-0.419159	0.01732	T	-0.357284	0.38366	T	0.0832708011257711	0.10400	T	0.957104	0.83854	D	0.552112	0.70073	0.48960522	0.70469	0.552112	0.70074	0.48960522	0.70469	-7.117	0.54882	T	.	.	0.191	0.40984	B	.	.	3.862565	0.56023	23.7	0.99863524353812805	0.94184	0.84352	0.43434	D	AEFDBCI	0.493959	0.52996	N	0.683490743740407	0.78552	6.894461	0.641120874031742	0.77949	6.779276	0.999999999998887	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.596491	0.31596	0	0.735409	0.98432	0	.	.	5.17	5.17	0.70848	2.136000	0.41744	.	.	0.599000	0.40250	0.966000	0.33990	0.919000	0.28284	0.987000	0.62547	0.0:1.0:0.0:0.0	15.935	0.79482	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1075.98	62	chr11	124753693	.	C	T	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.270;DP=765;ExcessHet=0.0000;FS=5.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.35;ReadPosRankSum=0.087;SOR=1.093	GT:AD:DP:GQ:PL	0/1:24,38:62:99:1090,0,634	20	0	1	0
chr11	128839231	128839231	A	G	exonic	KCNJ1	.	nonsynonymous SNV	KCNJ1:NM_000220:exon2:c.T1070C:p.M357T	Bartter syndrome, type 2, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	24197	not_specified|not_provided|Bartter_disease_type_2|KCNJ1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009424,MedGen:C1855849,OMIM:241200,Orphanet:112,Orphanet:620220|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.041	B	0.013	N	0.982	N	0.695	N	-3.23	D	-0.126	T	0.590	D	0.22	0.785	8.138	5.9	2.254	4.870	16.325	0.392	.	0.0068	0.00279553	0.0080	0.0021	0.0028	0	0.0086	0.0120	0.0088	0.0033	0.0078912	1220	154602	rs59172778	0.0099	0.0099	0.0102	0.0096	0.0117	0.0098	0.0097	0.0115	0.0114	0.0022	0.0038	0.0031	0	0.0084	0.0026	0.0117	0.0078	0.0032	0.0077	0.0077	0.0077	0.0076	0.0120	0.0073	0.0072	0.0113	0.0111	0.0026	0	0.0073	0.0040	0.0002	0.0074	0.0034	0.0120	0.0052	0.0054	0.389	0.10874	T	0.39	0.15506	T	0.004	0.12183	B	0.041	0.23986	B	0.012803	0.29047	N	0.432611	0.0178426	0.24985	A	0.695	0.17993	N	-3.23	0.93414	D	0.04	0.08495	N	0.565	0.71321	-0.1259	0.79497	T	0.590	0.85303	D	10	0.016446412	0.00347	T	.	.	.	0.392	0.70764	.	.	0.817938731251	0.81622	0.42908245002016493	0.42825	0.0391560762473	0.04173	0.434037923813	0.29761	T	0.570773	0.85784	D	-0.320139	0.06886	T	-0.222246	0.52520	T	0.0256024933013323	0.01352	T	0.706929	0.31753	T	0.21849048	0.44358	0.17731526	0.40325	0.18652745	0.40064	0.20408967	0.44515	-2.572	0.07228	T	0.09446305846002974	0.06325	0.099	0.21239	B	.;.;.;.;.	.;.;.;.;.	2.493598	0.32177	18.96	0.86347416939235933	0.16475	0.91963	0.54643	D	AEFDBIJ	0.540115	0.55681	D	-0.00157175943958443	0.41784	2.505552	0.215218666096843	0.50692	3.258576	0.999999424974439	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.9	5.9	0.94952	4.849000	0.62580	9.433000	0.80807	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.325	0.82802	419	0.81524	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1456.98	115	chr11	128839231	.	A	G	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.240e-01;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.532e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1471,0,1286	20	0	1	0
chr11	129886366	129886366	T	C	exonic	NFRKB	.	nonsynonymous SNV	NFRKB:NM_006165:exon3:c.A455G:p.Q152R	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.991	D	0.805	P	0.000	D	1.000	D	0.665	N	.	.	-0.914	T	0.172	T	0.621	2.204	13.33	5.29	1.992	5.739	15.241	0.128	0.00246166338989	0.0008	0.000199681	0.0007	9.656e-05	0.0006	0	0.0002	0.0008	0.0044	0.0007	0.0006145	95	154602	rs141499613	0.0009	0.0009	0.0009	0.0009	0.0014	0.0009	0.0009	0.0010	0.0010	2.987e-05	0.0006	3.826e-05	0	9.362e-05	0.0014	0.0010	0.0008	0.0012	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0010	0.0009	0.0002	0	0.0005	0	0	0	0	0.0012	0.0005	0.0006	0.086	0.33585	T	0.042	0.50226	D	0.985	0.64070	D	0.643	0.58399	P	0.000121	0.50451	D	0.145138	0.999426	0.49394	D	1.04	0.26193	L	.	.	.	-1.99	0.50502	N	0.596	0.61511	-0.9142	0.46325	T	0.172	0.51468	T	9	0.04736355	0.04044	T	0.002462	0.04868	T	0.128	0.35103	.	.	0.288221626996	0.28429	0.5771189635324554	0.57640	0.124722338032	0.14047	0.59449493885	0.52128	T	0.096659	0.39870	T	-0.238408	0.15552	T	-0.165674	0.57838	T	0.0497976845081721	0.05466	T	0.90231	0.66975	D	0.4736088	0.65511	0.3048229	0.56510	0.4736088	0.65512	0.3048229	0.56509	-4.417	0.29786	T	.	.	0.398	0.63385	A	.;.;.;.;.;.	.;.;.;.;.;.	3.878493	0.56357	23.7	0.96644775879245592	0.30567	0.96800	0.71007	D	AEFBI	0.687820	0.64903	D	0.382600701871641	0.60479	4.237273	0.446991755329898	0.64523	4.709517	0.917039442134377	0.26530	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.29	5.29	0.74430	5.717000	0.68096	7.873000	0.72068	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.241	0.73168	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	0	0	0	0	0.02381	755.98	84	chr11	129886366	.	T	C	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=773;ExcessHet=0.0000;FS=1.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-1.400e-02;SOR=0.837	GT:AD:DP:GQ:PL	0/1:49,35:84:99:770,0,1184	20	0	1	0
chr11	129910541	129910541	T	G	exonic	PRDM10	.	nonsynonymous SNV	PRDM10:NM_199439:exon14:c.A2699C:p.Q900P	.	.	426	1081	15	0	0	15	0.00689022	.	.	2810023	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.396	B	0.099	B	0.092	N	0.734	N	0.695	N	2.91	T	-1.042	T	0.014	T	0.276	0.486	6.638	1.21	-0.004	2.219	7.513	0.019	0.00596931075526	0.0032	0.00199681	0.0029	0.0005	0.0012	0	0.0005	0.0044	0.0022	0.0021	0.0027425	424	154602	rs141740226	0.0032	0.0032	0.0032	0.0032	0.0109	0.0031	0.0031	0.0088	0.0080	0.0009	0.0020	0.0167	2.52e-05	0.0003	0.0109	0.0033	0.0038	0.0023	0.0022	0.0022	0.0022	0.0021	0.0031	0.0020	0.0019	0.0027	0.0026	0.0005	0	0.0018	0.0161	0	0.0004	0.0068	0.0031	0.0043	0.0006	0.038	0.42783	D	0.074	0.54159	T	0.0	0.07471	B	0.0	0.04355	B	0.091753	0.20309	N	0.493708	0.73427	0.33752	D	.	.	.	2.82	0.11730	T	-0.78	0.21644	N	0.314	0.42541	-1.0421	0.16681	T	0.014	0.05608	T	10	0.00473091	0.00100	T	0.005969	0.15579	T	0.019	0.03383	.	.	0.0675242888579	0.06100	0.42662894743604407	0.42579	0.124582783249	0.14036	0.408897936344	0.26304	T	.	.	.	-0.477599	0.00764	T	-0.461865	0.26397	T	0.0368363451973109	0.03126	T	0.692831	0.31953	T	.	.	.	.	.	.	.	.	-5.186	0.39546	T	.	.	0.066	0.10014	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.530675	0.19640	14.36	0.95152553367378334	0.26288	0.93304	0.57859	D	AEFDBI	0.614196	0.60160	D	-0.693359907043692	0.16210	0.8238372	-0.620561445937764	0.18965	1.015487	0.0132424540917667	0.12437	0.372202	0.05800	0	0.546412	0.12157	0	0.0	0.00061	3	0.491896	0.07777	0	.	.	2.46	1.21	0.20240	1.834000	0.38811	3.274000	0.37181	0.474000	0.21982	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:0.4354:0.5646	7.513	0.26752	856	0.34373	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1030.98	102	chr11	129910541	.	T	G	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.719e+00;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-1.467e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1045,0,1340	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	0/2:5,2,12:19:99:465,401,620,0,126,174	3	7	5	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,24:83:99:.:.:177,0,785	3	0	18	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/3:2,0,30,18,0:50:99:1694,1750,1908,595,736,699,1110,1222,0,1196,1750,1908,736,1222,1908	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	2/3:2,0,30,18,0:50:99:1694,1750,1908,595,736,699,1110,1222,0,1196,1750,1908,736,1222,1908	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	2/3:2,0,30,18,0:50:99:1694,1750,1908,595,736,699,1110,1222,0,1196,1750,1908,736,1222,1908	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	2/3:2,0,30,18,0:50:99:1694,1750,1908,595,736,699,1110,1222,0,1196,1750,1908,736,1222,1908	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	0/1:15,25,0,0,2,0,0:42:99:.:.:868,0,471,934,551,1534,934,551,1534,1534,857,468,1473,1473,1522,934,551,1534,1534,1473,1534,934,551,1534,1534,1473,1534,1534	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	0/1:15,25,0,0,2,0,0:42:99:.:.:868,0,471,934,551,1534,934,551,1534,1534,857,468,1473,1473,1522,934,551,1534,1534,1473,1534,934,551,1534,1534,1473,1534,1534	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	0/1:15,25,0,0,2,0,0:42:99:.:.:868,0,471,934,551,1534,934,551,1534,1534,857,468,1473,1473,1522,934,551,1534,1534,1473,1534,934,551,1534,1534,1473,1534,1534	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	0/1:15,25,0,0,2,0,0:42:99:.:.:868,0,471,934,551,1534,934,551,1534,1534,857,468,1473,1473,1522,934,551,1534,1534,1473,1534,934,551,1534,1534,1473,1534,1534	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	0/1:15,25,0,0,2,0,0:42:99:.:.:868,0,471,934,551,1534,934,551,1534,1534,857,468,1473,1473,1522,934,551,1534,1534,1473,1534,934,551,1534,1534,1473,1534,1534	1	0	2	0
chr12	10809423	10809423	C	T	exonic	TAS2R9	.	nonsynonymous SNV	TAS2R9:NM_023917:exon1:c.G653A:p.G218E,	.	.	421	1057	42	2	0	46	0.0212963	.	.	713304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.959	D	0.026	U	1.000	N	3.43	M	5.14	T	-1.073	T	0.011	T	0.276	2.355	13.83	1.59	0.228	1.011	5.313	0.047	.	0.0097	0.0121805	0.0082	0.0200	0.0046	0	0	0.0042	0.0132	0.0263	0.0074708	1155	154602	rs113883583	0.0049	0.0049	0.0041	0.0058	0.0282	0.0048	0.0048	0.0273	0.0269	0.0201	0.0039	0.0184	5.039e-05	0.0005	0.0205	0.0026	0.0064	0.0282	0.0083	0.0083	0.0078	0.0088	0.0278	0.0079	0.0078	0.0240	0.0225	0.0187	0	0.0060	0.0182	0	0.0003	0.0068	0.0026	0.0085	0.0278	0.002	0.72154	D	0.016	0.60972	D	0.996	0.68779	D	0.959	0.70163	D	0.026387	0.25927	U	0.215630	1	0.08975	N	2.32	0.66415	M	5.14	0.01205	T	-5.78	0.87988	D	0.279	0.31590	-1.0726	0.08851	T	0.011	0.04088	T	10	0.004649937	0.00097	T	.	.	.	0.047	0.12962	.	.	0.0846915920261	0.08053	0.031241767503459902	0.03073	0.0320678791834	0.03334	0.253196954727	0.04111	T	0.04032	0.25486	T	-0.559853	0.00254	T	-0.557369	0.16624	T	0.0819738616744035	0.10238	T	.	.	.	0.3881858	0.59903	0.4607451	0.68681	0.3881858	0.59903	0.4607451	0.68681	-7.222	0.55639	T	.	.	0.234	0.46677	B	.	.	2.002613	0.25446	16.76	0.94624989406091298	0.25207	0.17470	0.19851	N	AEFBI	0.083691	0.16956	N	-0.308932895454893	0.28807	1.592075	-0.592638088580168	0.19683	1.057207	1.8890469003529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	1.59	0.22622	0.514000	0.22492	-3.557000	0.02697	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1632:0.6547:0.0:0.1821	5.313	0.15147	822	0.40702	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1131.98	77	chr12	10809423	.	C	T	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.292;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-2.090e-01;SOR=0.599	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1146,0,1014	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	0/2:62,12,70:144:99:2666,2518,4474,0,1758,2826	4	3	11	0
chr12	11133887	11133887	G	A	exonic	TAS2R30	.	nonsynonymous SNV	TAS2R30:NM_001097643:exon1:c.C358T:p.R120C,	.	.	420	1087	15	0	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.064	B	0.022	B	.	.	1.000	N	0.915	L	5.77	T	-0.945	T	0.002	T	0.34	0.773	8.084	-2.89	-0.638	-0.575	7.842	0.038	.	0.0012	0.00279553	0.0026	0.0002	0.0006	0.0001	0	0.0016	0.0077	0.0114	0.0021474	332	154602	rs111498087	0.0013	0.0013	0.0009	0.0016	0.0102	0.0012	0.0012	0.0096	0.0094	8.961e-05	0.0008	0.0089	2.519e-05	3.744e-05	0.0099	0.0005	0.0018	0.0102	0.0011	0.0011	0.0010	0.0013	0.0116	0.0010	0.0009	0.0092	0.0083	9.63e-05	0	0.0012	0.0109	0	0	0.0034	0.0008	0.0005	0.0116	0.006	0.61437	D	0.063	0.45110	T	0.064	0.23455	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	5.77	0.00687	T	-2.74	0.58248	D	0.303	0.34228	-0.9446	0.41879	T	0.002	0.00769	T	9	0.0069731474	0.00159	T	.	.	.	0.038	0.09825	.	.	0.0401082797425	0.02173	0.12845158240615942	0.12770	0.0043736921062	0.00387	0.204710185528	0.00607	T	0.025155	0.18867	T	-0.243614	0.14890	T	-0.587711	0.13865	T	0.0145310332832924	0.00297	T	0.578742	0.20864	T	0.15769173	0.35517	0.16547804	0.38280	0.15769173	0.35517	0.16547804	0.38279	-2.912	0.09264	T	.	.	0.09	0.12607	B	.	.	1.222423	0.16164	12.36	0.87613906473598391	0.17354	0.00549	0.02518	N	AEFDBIJ	0.032021	0.03537	N	-1.1646577408448	0.05543	0.2529605	-1.29192008954591	0.04539	0.2143312	0.985699364611607	0.30932	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.7	-2.89	0.05326	-0.895000	0.04226	-11.767000	0.00577	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.7074:0.0:0.2926:0.0	7.842	0.28563	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6862.11	329	chr12	11133887	.	G	A	6862.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.77;DP=3638;ExcessHet=0.1072;FS=0.528;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.89;MQRankSum=1.24;QD=11.40;ReadPosRankSum=-3.600e-02;SOR=0.730	GT:AD:DP:GQ:PL	0/1:187,142:329:99:3603,0,4823	19	0	2	0
chr12	21805301	21805301	G	C	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_005691:exon40:c.C4523G:p.S1508C,	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.78	P	0.541	P	.	.	1.000	D	2.91	M	-1.63	D	0.499	D	0.642	D	0.726	4.371	23.1	5.06	1.517	9.233	15.023	0.746	0.107305408838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0035	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0001	5.056e-05	0	0	0.0005	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.037	0.51737	D	0.78	0.44271	P	0.541	0.48869	P	.	.	.	.	0.942115	0.81001	D	3.565	0.93411	H	-1.63	0.82440	D	-2.82	0.59545	D	0.861	0.85766	0.499	0.90534	D	0.642	0.87509	D	9	0.86013865	0.85229	D	0.107305	0.78332	D	0.746	0.91242	0.654	0.79172	0.938725009223	0.93809	.	.	.	.	.	.	.	0.837545	0.96181	D	0.236237	0.77305	D	0.101562	0.77011	D	0.965997040271759	0.67442	D	0.819018	0.47665	T	0.19674279	0.41513	0.22112092	0.46911	0.19674279	0.41513	0.22112092	0.46911	-8.375	0.63599	D	0.10600428853165336	0.08469	0.131	0.28319	B	.;.	.;.	3.249126	0.44386	21.9	0.99414692704072116	0.63453	0.99285	0.93953	D	AEFI	0.920507	0.89258	D	0.684879813253823	0.78641	6.912787	0.691786436055985	0.81756	7.601414	0.91949839964056	0.26603	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.06	0.67838	9.363000	0.96541	10.001000	0.83042	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8578:0.1422	15.023	0.71308	709	0.56835	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	287.35	50	chr12	21805301	.	G	C	287.35	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-9.290e-01;DP=837;ExcessHet=0.6776;FS=112.828;InbreedingCoeff=-0.2768;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.56;ReadPosRankSum=1.14;SOR=9.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,9:50:80:0|1:21805301_G_C:80,0,1250:21805301	7	0	4	10
chr12	31479895	31479895	A	G	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_001366892:exon3:c.T598C:p.F200L	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.999	D	0.000	D	1.000	D	1.97	M	2.77	T	-1.141	T	0.073	T	0.915	4.265	22.3	4.65	1.955	8.897	14.255	0.468	0.0216816594003	.	.	3.317e-05	0	8.688e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs764363486	2.668e-05	2.668e-05	8.168e-06	4.539e-05	0.0004	1.998e-05	1.754e-05	0.0003	0.0002	0	0	0	0	0	0.0002	1.799e-06	8.282e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.011	0.79402	D	0.877	0.90584	P	0.781	0.92359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.875	0.49914	L	2.77	0.11407	T	-4.46	0.81269	D	0.91	0.95021	-1.1405	0.01340	T	0.073	0.29515	T	10	0.82067746	0.81275	D	0.021682	0.44481	T	0.468	0.76289	0.737	0.86978	0.593587208821	0.59036	0.6827625042163464	0.68215	1.23181786945	0.81364	0.780183434486	0.78955	T	0.102535	0.41036	T	-0.00287109	0.51258	T	0.0640761	0.74515	D	0.443721178012216	0.30566	T	0.869313	0.58533	D	0.41689095	0.61884	0.383368	0.63302	0.41689095	0.61885	0.383368	0.63302	-9.02	0.72163	D	.	.	0.972	0.89775	P	.;.;.;.	.;.;.;.	4.733923	0.76271	26.5	0.99810326094142798	0.89442	0.99241	0.93311	D	AEFDGBI	0.904865	0.85568	D	0.56857437874715	0.71218	5.617847	0.571335694775879	0.72895	5.882285	0.999999999999766	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	9.085000	0.93471	11.230000	0.90066	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	14.255	0.65595	951	0.11083	cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;.;cDENN domain|Tripartite DENN domain|cDENN 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	1727.98	161	chr12	31479895	.	A	G	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.651e+00;DP=856;ExcessHet=0.0000;FS=2.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.313e+00;SOR=0.913	GT:AD:DP:GQ:PL	0/1:91,70:161:99:1742,0,2531	20	0	1	0
chr12	31500446	31500446	G	A	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_001308339:exon2:c.C113T:p.S38L,	.	.	567	922	33	0	0	33	0.0175812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.893	P	0.519	P	0.143	U	1.000	N	.	.	4.55	T	-0.889	T	0.006	T	0.032	0.828	8.339	0.539	0.525	-0.583	.	0.053	.	.	0.00419329	0.0194	0	0.0341	0	.	0.0167	0.0405	0.0215	0.0026778	414	154602	rs141702066	0.0106	0.0052	0.0096	0.0115	0.0190	0.0103	0.0102	0.0147	0.0144	0.0020	0.0038	0.0089	0.0001	0.0015	0.0190	0.0118	0.0106	0.0156	0.0080	0.0080	0.0086	0.0074	0.0131	0.0076	0.0075	0.0124	0.0121	0.0021	0.0186	0.0065	0.0095	0.0002	0.0008	0.0136	0.0131	0.0052	0.0131	0.126	0.27194	T	0.123	0.35582	T	0.893	0.49136	P	0.519	0.48163	P	0.142966	0.18226	U	0.309743	1	0.08975	N	.	.	.	4.55	0.01948	T	-1.17	0.29933	N	0.03	0.00717	-0.8889	0.49029	T	0.006	0.01870	T	8	0.0034925938	0.00062	T	.	.	.	0.053	0.14996	.	.	.	.	0.06382100541606522	0.06321	.	.	.	.	.	0.021384	0.16659	T	-0.76798	0.00013	T	-0.863603	0.00805	T	0.00830917297184111	0.00100	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18206	B	.	.	0.007160	0.04332	1.101	0.90153726147446234	0.19431	0.00230	0.01288	N	AEFBI	0.034594	0.04311	N	-0.671784551672223	0.16829	0.8608266	-0.928904405062539	0.11413	0.5813171	0.999657046820802	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	0.539	0.539	0.16348	-1.590000	0.02205	-0.492000	0.08854	-1.495000	0.01039	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	.	.	.	958	0.09170	.	ETFBKMT	Thyroid	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	499.33	37	chr12	31500446	.	G	A	499.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.954e+00;DP=695;ExcessHet=0.0000;FS=3.091;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.77;MQRankSum=1.78;QD=13.50;ReadPosRankSum=-7.580e-01;SOR=0.293	GT:AD:DP:GQ:PL	0/1:15,22:37:99:513,0,398	19	0	1	1
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	0/1:25,26,5:56:99:.:.:146,0,373,181,406,608	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	0/1:25,26,5:56:99:.:.:146,0,373,181,406,608	2	0	14	4
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|2:442,0,597:1039:99:0|1:40482887_AAGTGACAGGGACAACTGGACCATTAGCTGG_A:22162,23492,41378,0,17886,16046:40482887	1	0	5	9
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	0/1:392,726,0:1118:99:20229,0,9408,21402,11577,32979	1	12	6	0
chr12	40486625	40486625	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	980	5	0	0	5	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036576	952	26028	rs370171939	1.864e-05	0.0003	2.301e-05	1.351e-05	2.064e-05	4.96e-06	2.38e-06	5.49e-06	2.52e-06	0	0	0	0	0	0	2.064e-05	0	0	0.0012	0.0023	0.0013	0.0011	0.0068	0.0009	0.0007	0.0018	0.0010	0.0002	0	0.0030	0.0024	0.0036	0.0023	0	0.0015	0	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.03333	216.45	881	chr12	40486625	.	G	C	216.45	.	AC=1;AF=0.033;AN=30;BaseQRankSum=5.83;DP=21348;ExcessHet=0.0000;FS=34.963;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.033;MQ=58.24;MQRankSum=-2.473e+01;QD=0.25;ReadPosRankSum=3.93;SOR=5.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:817,64:881:99:0|1:40486625_G_C:228,0,34016:40486625	14	0	1	6
chr12	40486643	40486643	-	CA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	521	915	2	0	84	86	0.0010917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0009	0.0001	0.0002	0.0004	0.0001	9.135e-05	0.0002	9.942e-05	8.187e-05	0	0.0004	0.0004	0	0.0003	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	573.94	896	chr12	40486643	.	C	CCA	573.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.94;DP=21128;ExcessHet=0.0000;FS=38.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.89;MQRankSum=-2.404e+01;QD=0.64;ReadPosRankSum=5.30;SOR=5.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:823,73:896:99:0|1:40486625_G_C:588,0,34311:40486625	20	0	1	0
chr12	40486644	40486644	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	897	5	0	84	89	0.00277932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.413e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0057	0.0009	0.0014	0.0043	0.0008	0.0006	0.0017	0.0011	0.0004	0	0.0043	0.0037	0	0.0032	0	0.0014	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	603.95	887	chr12	40486644	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	603.95	.	AC=1;AF=0.036;AN=28;BaseQRankSum=7.35;DP=21198;ExcessHet=0.0000;FS=38.219;InbreedingCoeff=-0.1200;MLEAC=1;MLEAF=0.036;MQ=57.87;MQRankSum=-2.391e+01;QD=0.68;ReadPosRankSum=3.39;SOR=5.176	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:814,73:887:99:0|1:40486625_G_C:615,0,33960:40486625	13	0	1	7
chr12	40486662	40486662	-	GCT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	515	928	21	0	58	79	0.0111881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352773716	0	3.421e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0009	0.0001	0.0002	0.0004	0.0001	8.378e-05	0.0002	9.863e-05	5.377e-05	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1191.94	876	chr12	40486662	.	G	GGCT	1191.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.37;DP=21126;ExcessHet=0.0000;FS=40.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.31;MQRankSum=-2.383e+01;QD=1.36;ReadPosRankSum=-7.650e-01;SOR=4.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:781,95:876:99:0|1:40486625_G_C:1206,0,32001:40486625	20	0	1	0
chr12	40486663	40486663	-	CTTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	1141.95	863	chr12	40486663	.	A	ACTTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	1141.95	.	AC=1;AF=0.036;AN=28;BaseQRankSum=3.26;DP=21154;ExcessHet=0.0000;FS=40.559;InbreedingCoeff=-0.1200;MLEAC=1;MLEAF=0.036;MQ=57.33;MQRankSum=-2.356e+01;QD=1.32;ReadPosRankSum=-5.253e+00;SOR=4.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:770,93:863:99:0|1:40486625_G_C:1153,0,31548:40486625	13	0	1	7
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	0/2:765,0,25,0:790:99:.:.:325,1032,33009,0,31948,31876,1895,33113,32068,33860	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	0/2:765,0,25,0:790:99:.:.:325,1032,33009,0,31948,31876,1895,33113,32068,33860	4	0	6	1
chr12	40488569	40488569	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	582	939	1	0	0	1	0.000532198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs543718345	5.422e-05	3.218e-05	3.778e-05	7.337e-05	0.0025	4.085e-05	3.596e-05	0.0018	0.0016	0	0	0	0	0	0	0	0.0003	0.0025	6.677e-05	5.722e-05	4.857e-05	8.612e-05	0.0030	3.266e-05	2.369e-05	0.0015	0.0011	0	0	0	0	0	0	0	0	0	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	13909.38	725	chr12	40488569	.	G	C	13909.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.305e+00;DP=10124;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0399;MLEAC=1;MLEAF=0.025;MQ=59.82;MQRankSum=-1.424e+00;QD=19.19;ReadPosRankSum=0.503;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:352,373:725:99:0|1:40488569_G_C:13923,0,13072:40488569	19	0	1	1
chr12	40488782	40488782	-	AA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	313.29	936	chr12	40488782	.	G	GAA	313.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.126e+00;DP=19994;ExcessHet=0.0000;FS=0.986;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=58.08;MQRankSum=-2.171e+01;QD=0.34;ReadPosRankSum=0.689;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:858,73:936:99:0|1:40488726_C_T:327,0,35866:40488726	19	0	1	1
chr12	40488783	40488783	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	705	771	16	24	6	70	0.0398506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248728457	0	4.498e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0050	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0	0	0.0005	0	0.0004	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	0.2	770.68	934	chr12	40488783	.	G	A,GTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	770.68	.	AC=1,1;AF=0.100,0.100;AN=10;BaseQRankSum=-1.239e+00;DP=19913;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.1906;MLEAC=2,2;MLEAF=0.200,0.200;MQ=58.19;MQRankSum=-2.161e+01;QD=0.51;ReadPosRankSum=-7.200e-02;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:854,0,74:934:99:0|1:40488726_C_T:378,3106,38890,0,35828,35735:40488726	3	0	1	16
chr12	40488783	40488783	-	TGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	770.68	934	chr12	40488783	.	G	A,GTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	770.68	.	AC=1,1;AF=0.100,0.100;AN=10;BaseQRankSum=-1.239e+00;DP=19913;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.1906;MLEAC=2,2;MLEAF=0.200,0.200;MQ=58.19;MQRankSum=-2.161e+01;QD=0.51;ReadPosRankSum=-7.200e-02;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:854,0,74:934:99:0|1:40488726_C_T:378,3106,38890,0,35828,35735:40488726	3	0	1	16
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	89288.66	720	chr12	40489602	.	G	A,*	89288.66	.	AC=6,1;AF=0.150,0.025;AN=40;BaseQRankSum=4.13;DP=11489;ExcessHet=2.5830;FS=0.517;InbreedingCoeff=-0.2174;MLEAC=6,1;MLEAF=0.150,0.025;MQ=58.87;MQRankSum=1.10;QD=18.58;ReadPosRankSum=3.71;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,356,0:720:99:0|1:40489564_G_A:12802,0,13011,13897,14082,27979:40489564	13	0	6	1
chr12	40507004	40507004	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	442	1064	15	1	0	17	0.00792541	.	.	2806890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs536871012	0.0017	0.0004	0	0.0029	0.0091	0	0	.	.	0	.	.	.	0	0	0.0091	0	0	0.0013	0.0013	0.0012	0.0015	0.0077	0.0012	0.0011	0.0057	0.0050	0.0001	0	0.0026	0.0089	0	0.0008	0.0034	0.0011	0.0024	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1016.98	142	chr12	40507004	.	C	T	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=2178;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.16;ReadPosRankSum=-2.402e+00;SOR=0.664	GT:AD:DP:GQ:PL	0/1:101,41:142:99:1031,0,2668	20	0	1	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	243.92	150	chr12	40509053	.	T	A	243.92	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-5.870e-01;DP=3382;ExcessHet=0.6776;FS=1.041;InbreedingCoeff=-0.3078;MLEAC=6;MLEAF=0.333;MQ=59.49;MQRankSum=-1.058e+01;QD=0.36;ReadPosRankSum=2.61;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,13:150:99:0|1:40509053_T_A:134,0,5673:40509053	5	0	4	12
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	223.58	151	chr12	40509056	.	G	A	223.58	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-8.510e-01;DP=3396;ExcessHet=0.3300;FS=1.041;InbreedingCoeff=-0.2842;MLEAC=5;MLEAF=0.278;MQ=59.51;MQRankSum=-1.061e+01;QD=0.46;ReadPosRankSum=2.69;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,13:151:99:0|1:40509053_T_A:130,0,5715:40509053	6	0	3	12
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	232.05	153	chr12	40509061	.	G	C	232.05	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.618e+00;DP=3425;ExcessHet=0.3300;FS=1.041;InbreedingCoeff=-0.2751;MLEAC=5;MLEAF=0.278;MQ=59.52;MQRankSum=-1.068e+01;QD=0.48;ReadPosRankSum=2.62;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,13:153:99:0|1:40509053_T_A:124,0,5819:40509053	6	0	3	12
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	235.27	153	chr12	40509062	.	A	C	235.27	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-9.720e-01;DP=3311;ExcessHet=0.3300;FS=1.049;InbreedingCoeff=-0.2775;MLEAC=5;MLEAF=0.278;MQ=59.52;MQRankSum=-1.068e+01;QD=0.48;ReadPosRankSum=2.59;SOR=0.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,13:153:99:0|1:40509053_T_A:124,0,5819:40509053	6	0	3	12
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	135.05	163	chr12	40509076	.	G	A	135.05	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.145e+00;DP=3209;ExcessHet=0.1072;FS=1.064;InbreedingCoeff=-0.2414;MLEAC=4;MLEAF=0.222;MQ=59.56;MQRankSum=-1.104e+01;QD=0.44;ReadPosRankSum=2.23;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,13:163:94:0|1:40509076_G_A:94,0,6197:40509076	7	0	2	12
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	95.14	165	chr12	40509081	.	T	C	95.14	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.490e-01;DP=3196;ExcessHet=0.1072;FS=1.075;InbreedingCoeff=-0.2346;MLEAC=3;MLEAF=0.167;MQ=59.60;MQRankSum=-1.111e+01;QD=0.31;ReadPosRankSum=2.04;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,13:165:88:0|1:40509076_G_A:88,0,6281:40509076	7	0	2	12
chr12	45891802	45891802	G	C	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon17:c.G4945C:p.V1649L	.	.	433	1077	11	1	0	13	0.00599908	.	.	137311	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.537	P	0.275	B	0.000	D	1.000	D	1.15	L	1.0	T	-1.070	T	0.100	T	0.854	3.222	16.79	5.17	2.553	9.233	19.028	0.222	0.0223764760044	0.0002	0.000998403	0.0013	9.621e-05	0.0010	0	0	0.0010	0.0022	0.0051	0.0011837	183	154602	rs201268655	0.0007	0.0007	0.0005	0.0009	0.0050	0.0006	0.0006	0.0046	0.0044	0.0002	0.0006	0.0007	0	1.872e-05	0.0047	0.0004	0.0008	0.0050	0.0005	0.0005	0.0003	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	0.0002	0	0.0005	0.0003	0	0	0	0.0005	0.0014	0.0048	0.1	0.32929	T	0.051	0.92824	T	0.217	0.32186	B	0.04	0.32387	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.04	0.26193	L	1.0	0.41392	T	-0.97	0.51646	N	0.74	0.79792	-1.0698	0.09458	T	0.100	0.37085	T	10	0.012111098	0.00262	T	0.022376	0.45263	T	0.222	0.51872	.	.	0.718575572554	0.71610	0.48737062560680344	0.48657	0.184298380875	0.20729	0.83280390501	0.86992	D	0.039466	0.25199	T	-0.143323	0.29361	T	0.0217533	0.71743	D	0.0539407879114151	0.06179	T	0.889011	0.66112	D	0.31849742	0.54512	0.21973705	0.46724	0.28788137	0.51795	0.21093398	0.45500	-9.742	0.72353	D	.	.	0.926	0.84845	P	.;.;.;.	.;.;.;.	4.081993	0.60724	24.3	0.98938570650694557	0.48902	0.99415	0.95738	D	AEFBI	0.878903	0.80446	D	0.190215641634862	0.50729	3.260232	0.352645208474332	0.58667	4.038622	0.999999972376364	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	9.322000	0.95579	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.028	0.92921	843	0.36859	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	1	0	0	0	0	0	0	0.02381	1419.98	96	chr12	45891802	.	G	C	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.189e+00;DP=787;ExcessHet=0.0000;FS=1.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=0.266;SOR=0.511	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1434,0,1200	20	0	1	0
chr12	45961816	45961816	A	G	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon3:c.T103C:p.Y35H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.99	D	0.946	D	0.121	U	1.000	D	0.975	L	0.94	T	-0.840	T	0.167	T	0.523	3.586	18.27	6.02	2.304	2.155	16.215	0.085	0.0186117900901	.	.	4.15e-05	0	0	0	0	7.507e-05	0	0	3.23e-05	5	154602	rs778363779	4.112e-06	4.104e-06	1.364e-06	6.889e-06	5.401e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.401e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.23	0.25135	T	0.99	0.63424	D	0.946	0.68276	D	0.121219	0.19004	U	0.378139	0.63905	0.32859	D	2.24	0.63355	M	0.94	0.43672	T	-0.7	0.22508	N	0.372	0.41360	-0.8398	0.52660	T	0.167	0.50534	T	10	0.12791902	0.24330	T	0.018612	0.40730	T	0.085	0.24743	0.339	0.32979	0.263709349026	0.25991	0.31982954874550973	0.31895	0.303066624151	0.32629	0.518053591251	0.41351	T	0.051428	0.28876	T	-0.170211	0.25202	T	-0.351822	0.38996	T	0.488842517137527	0.32221	T	0.888211	0.63821	D	0.08408588	0.19445	0.06538289	0.13242	0.08408588	0.19445	0.06538289	0.13242	-2.871	0.08857	T	.	.	0.121	0.35498	B	.;.;.;.	.;.;.;.	3.547260	0.49846	22.8	0.9977603126713579	0.86346	0.91330	0.53316	D	AEFBI	0.138951	0.26039	N	0.125944599193813	0.47677	2.989964	0.240007618873142	0.52082	3.385618	0.999999999972034	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.02	6.02	0.97559	2.227000	0.42615	9.292000	0.79800	0.756000	0.94297	0.966000	0.33990	1.000000	0.68203	0.768000	0.36443	1.0:0.0:0.0:0.0	16.215	0.82031	866	0.32446	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1493.98	111	chr12	45961816	.	A	G	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.890;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.524;SOR=0.743	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1508,0,1161	20	0	1	0
chr12	48202940	48202940	A	G	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.T353C:p.F118S,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.985	D	0.715	P	0.001	N	0.552	N	0.205	N	5.6	T	-0.797	T	0.004	T	0.534	2.743	15.13	3.69	0.972	0.931	9.009	0.153	0.0169943809679	.	.	8.281e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs759278693	2.227e-05	2.227e-05	2.096e-05	2.336e-05	0.0005	1.292e-05	1.01e-05	8.493e-05	3.538e-05	0.0001	0	0	0	0	0.0005	2.285e-05	0	2.866e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.014	0.62352	D	0.985	0.61118	D	0.715	0.54683	P	0.001247	0.39669	N	0.000000	0.551912	0.31327	N	-0.335	0.03518	N	5.6	0.00825	T	-0.9	0.24244	N	0.198	0.21839	-0.7969	0.55327	T	0.004	0.01261	T	10	0.12614888	0.23979	T	0.016994	0.38500	T	0.153	0.40148	0.323	0.30387	0.271763555656	0.26798	0.2613715487618697	0.26050	0.0383716600576	0.04084	0.27053463459	0.06211	T	0.001695	0.01120	T	-0.179166	0.23861	T	-0.47965	0.24482	T	0.244937390089035	0.22645	T	0.562144	0.19728	T	0.2536063	0.48383	0.1780116	0.40442	0.2536063	0.48383	0.1780116	0.40441	-3.045	0.10674	T	.	.	0.318	0.54331	B	.	.	2.914807	0.38680	20.8	0.99738645767050738	0.83337	0.30817	0.24180	N	AEFDBCI	0.136218	0.25681	N	-0.288809631067892	0.29580	1.641606	-0.317156409139883	0.27544	1.529157	0.231608223227256	0.18471	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.83	3.69	0.41483	0.776000	0.26365	4.186000	0.42370	-0.066000	0.16423	0.000000	0.06391	0.998000	0.33993	0.909000	0.44452	0.9109:0.0:0.0891:0.0	9.009	0.35291	736	0.53558	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1899.98	155	chr12	48202940	.	A	G	1899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.760e-01;DP=1265;ExcessHet=0.0000;FS=0.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.657e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/1:78,77:155:99:1914,0,1999	20	0	1	0
chr12	51891317	51891317	A	C	exonic	ANKRD33	.	nonsynonymous SNV	ANKRD33:NM_001304460:exon5:c.A589C:p.I197L	.	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.0	B	.	.	1.000	N	-1.39	N	2.39	T	-0.946	T	0.012	T	0.074	0.568	7.070	1.23	0.498	-0.389	5.560	0.043	0.00479824294883	7.7e-05	0.000399361	0.0004	0	0.0001	0	0	0.0006	0	0.0007	0.0003105	48	154602	rs202069826	0.0003	0.0003	0.0003	0.0004	0.0090	0.0003	0.0003	0.0071	0.0064	0.0004	0.0004	0.0007	0	0	0.0090	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	4.808e-05	0	0.0001	0.0006	0	0	0.0102	0.0003	0.0024	0.0006	1.0	0.00964	T	0.553	0.09329	T	.	.	.	.	.	.	.	.	.	.	0.999984	0.54805	D	.	.	.	2.39	0.15724	T	0.02	0.06739	N	0.077	0.05162	-0.9463	0.41599	T	0.012	0.04700	T	9	0.0109526515	0.00242	T	0.004798	0.12004	T	0.043	0.11576	0.282	0.23801	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.589317	0.00169	T	-0.760346	0.03100	T	0.0162121624619092	0.00395	T	0.30147	0.05685	T	.	.	.	.	.	.	.	.	-1.871	0.02729	T	.	.	0.064	0.01786	B	.	.	0.990111	0.13680	10.22	0.48166811053976233	0.03997	0.01146	0.04149	N	AEFDBI	0.018518	0.00567	N	-1.24167978989619	0.04410	0.1989825	-1.07112003228169	0.08272	0.4060316	0.739986204848549	0.23196	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.16	1.23	0.20358	0.198000	0.17018	-0.367000	0.09633	-0.254000	0.07082	0.154000	0.23713	0.000000	0.08366	0.860000	0.40782	0.5267:0.3752:0.0:0.0981	5.560	0.16423	397	0.82902	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1286.98	78	chr12	51891317	.	A	C	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=884;ExcessHet=0.0000;FS=0.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=-7.280e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/1:33,45:78:99:1301,0,825	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,12,0:89:99:0|1:52949249_G_A:272,0,3197,504,3233,3737:52949249	0	0	20	0
chr12	53196758	53196758	G	T	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon6:c.C637A:p.R213S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.221	B	0.107	B	0.267	N	1.000	N	1.485	L	-3.02	D	-0.271	T	0.559	D	0.372	2.390	13.95	4.15	1.245	0.223	10.113	0.338	0.0825578291581	0.0004	0.000599042	0.0006	0	0.0012	0	0	0.0008	0.0011	0	0.0006015	93	154602	rs11574537	0.0006	0.0006	0.0006	0.0006	0.0054	0.0005	0.0005	0.0039	0.0034	0.0004	0.0016	0.0091	0	0	0.0054	0.0003	0.0017	3.48e-05	0.0008	0.0008	0.0008	0.0008	0.0022	0.0007	0.0007	0.0016	0.0014	0.0002	0	0.0022	0.0104	0	0	0.0170	0.0006	0.0028	0	0.011	0.55530	D	0.197	0.27855	T	0.221	0.30336	B	0.107	0.31211	B	0.267061	0.15201	N	0.491750	1	0.08975	N	1.465	0.36909	L	-3.02	0.92258	D	-2.02	0.46503	N	0.44	0.49965	-0.2706	0.75795	T	0.559	0.83919	D	10	0.0107575655	0.00238	T	0.082558	0.73927	D	0.338	0.66010	.	.	0.883221294441	0.88207	0.5358905244624111	0.53514	0.565344544128	0.52876	0.361900389194	0.19662	T	0.605	0.87387	D	-0.225307	0.17273	T	-0.131792	0.60821	T	0.0129271835238952	0.00223	T	0.819518	0.63671	T	0.43884242	0.63328	0.22037275	0.46810	0.43884242	0.63328	0.22037275	0.46809	-6.585	0.50938	T	.	.	0.151	0.38658	B	.;.;.	.;.;.	3.489234	0.48758	22.7	0.99037735821458062	0.50939	0.17479	0.19855	N	AEFBCI	0.202013	0.32864	N	-0.321542058664074	0.28331	1.561775	-0.250838444849185	0.29742	1.66884	0.998527127172996	0.37129	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.05	4.15	0.47978	0.455000	0.21555	6.637000	0.56171	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.986000	0.61781	0.0:0.1485:0.6978:0.1538	10.113	0.41745	744	0.52588	Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1816.98	145	chr12	53196758	.	G	T	1816.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=880;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.824e+00;SOR=0.781	GT:AD:DP:GQ:PL	0/1:76,69:145:99:1831,0,1746	20	0	1	0
chr12	57038825	57038825	C	G	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon16:c.G1517C:p.C506S	.	.	2	1519	1	0	0	1	0.000329056	.	.	175742	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.001	B	0.031	N	0.878	N	-0.195	N	-2.12	D	-0.917	T	0.151	T	0.135	0.556	7.007	1.63	0.628	2.675	3.468	0.136	.	0.0068	0.00698882	0.0023	0.0251	0.0013	0	0	8.998e-05	0.0011	0	0.0021798	337	154602	rs12297756	0.0008	0.0008	0.0009	0.0007	0.0258	0.0008	0.0007	0.0244	0.0238	0.0258	0.0019	0	0	0	0.0023	7.194e-05	0.0019	3.478e-05	0.0072	0.0073	0.0074	0.0071	0.0248	0.0069	0.0067	0.0236	0.0231	0.0248	0	0.0037	0	0	0	0	0.0001	0.0043	0	0.532	0.06980	T	0.832	0.03695	T	0.0	0.02946	B	0.001	0.04355	B	0.030546	0.25292	N	0.476082	0.878066	0.28097	N	-0.22	0.03977	N	-2.12	0.86283	D	1.04	0.01332	N	0.15	0.15328	-0.9174	0.45904	T	0.151	0.47856	T	10	0.010234833	0.00229	T	.	.	.	0.136	0.36778	0.255	0.19533	0.489449420884	0.48578	0.3032649497730437	0.30239	0.101136939111	0.11438	0.301036626101	0.10556	T	0.136732	0.46928	T	-0.454892	0.01056	T	-0.405925	0.32697	T	0.0146667717473445	0.00304	T	0.455954	0.13062	T	0.06334935	0.13328	0.06861667	0.14354	0.06334935	0.13328	0.06861667	0.14353	-4.224	0.27098	T	.	.	0.088	0.11461	B	.;.	.;.	2.208800	0.28174	17.71	0.68527948880035428	0.08686	0.86838	0.46208	D	AEFDBHCI	0.788416	0.71791	D	-0.557411809030811	0.20252	1.066243	-0.367711753094956	0.25967	1.431284	0.999414346444368	0.39577	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.55	1.63	0.22882	2.820000	0.47757	0.602000	0.19937	0.599000	0.40250	1.000000	0.71638	0.701000	0.26233	0.999000	0.91618	0.0:0.5073:0.2012:0.2915	3.468	0.07122	174	0.93268	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1858.98	158	chr12	57038825	.	C	G	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.060e-01;DP=885;ExcessHet=0.0000;FS=1.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.527;SOR=0.871	GT:AD:DP:GQ:PL	0/1:85,73:158:99:1873,0,2342	20	0	1	0
chr12	57201511	57201511	G	A	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon66:c.G10360A:p.A3454T,	.	.	.	.	.	.	.	.	.	.	.	3280671	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.997	D	0.000	D	1.000	D	-0.135	N	-3.74	D	0.504	D	0.799	D	0.717	3.862	19.62	4.94	2.742	5.534	17.521	0.560	0.0468764417643	7.7e-05	.	8.337e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs149436792	1.643e-05	1.71e-05	1.498e-05	1.789e-05	5.04e-05	1.111e-05	9.34e-06	1.583e-05	9.3e-06	0	0	0	5.04e-05	1.875e-05	0	1.53e-05	0	4.64e-05	6.577e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.15	0.24661	T	0.052	0.47581	T	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.000000	0.999745	0.48716	D	-0.305	0.03614	N	-3.74	0.95493	D	-0.97	0.28290	N	0.531	0.55972	0.504	0.90601	D	0.799	0.93188	D	10	0.40255806	0.55669	T	0.046876	0.62662	D	0.560	0.81946	.	.	0.652284888051	0.64938	0.4110444192152973	0.41020	.	.	0.806900143623	0.83016	D	0.291463	0.66422	T	0.138716	0.68203	D	0.130607	0.78932	D	0.779906514477687	0.45044	D	0.843516	0.69499	T	0.17156796	0.37798	0.17252937	0.39515	0.17156796	0.37798	0.17252937	0.39514	-9.533	0.71064	D	.	.	0.245	0.47986	B	.;.	.;.	4.798850	0.77957	26.8	0.99842370944874415	0.92229	0.87342	0.46852	D	AEFDBHCI	0.772349	0.70669	D	0.390259005466443	0.60895	4.28351	0.460653317728457	0.65404	4.819485	0.999999999999406	0.74766	0.67177	0.52595	0	0.486142	0.07564	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.94	4.94	0.64645	3.420000	0.52493	9.850000	0.81982	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	17.521	0.87683	356	0.85138	.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	973.98	83	chr12	57201511	.	G	A	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.770e-01;DP=786;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=0.155;SOR=0.558	GT:AD:DP:GQ:PL	0/1:41,42:83:99:988,0,940	20	0	1	0
chr12	57782806	57782806	C	T	exonic	TSFM	.	nonsynonymous SNV	TSFM:NM_001172695:exon1:c.C5T:p.S2L	Combined oxidative phosphorylation deficiency 3, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	693265	not_provided|Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3	MedGen:C3661900|MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.002	B	0.038	N	1.000	D	0.695	N	.	.	-1.054	T	0.054	T	0.164	1.404	10.63	2.23	0.577	-0.442	5.103	0.057	.	0.0082	0.00798722	0.0041	0.0386	0.0026	0	0	9.764e-05	0.0057	0	0.0017788	275	154602	rs35957924	0.0007	0.0007	0.0008	0.0006	0.0232	0.0007	0.0007	0.0218	0.0213	0.0232	0.0012	0.0002	0	0	0.0010	8.261e-05	0.0018	0.0001	0.0064	0.0064	0.0065	0.0063	0.0226	0.0060	0.0059	0.0214	0.0209	0.0226	0	0.0016	0	0	0	0	5.88e-05	0.0014	0.0002	0.177	0.33585	T	0.022	0.63109	D	0.0	0.07471	B	0.0	0.06944	B	0.038485	0.24280	N	0.426980	1	0.81001	D	0.205	0.09354	N	.	.	.	-0.91	0.29323	N	0.14	0.24135	-1.0540	0.13305	T	0.054	0.22883	T	9	0.00456059	0.00095	T	.	.	.	0.057	0.16321	.	.	0.300784259202	0.29686	0.5627483519996492	0.56201	0.049866187842	0.05475	0.432685732841	0.29575	T	0.132655	0.46288	T	-0.521536	0.00431	T	-0.505007	0.21830	T	0.00979287582478674	0.00129	T	0.870113	0.57479	D	0.037204824	0.04726	0.07059031	0.15015	0.034295496	0.03822	0.10068792	0.24082	-4.262	0.34440	T	.	.	0.168	0.37914	B	.;.;.;.;.;.	.;.;.;.;.;.	0.826523	0.11977	8.538	0.96960745902308587	0.31779	0.16319	0.19334	N	ALL	0.115958	0.22778	N	-0.764139072462668	0.14252	0.7084264	-0.666016537484574	0.17813	0.9488337	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.69	2.23	0.27189	-0.439000	0.06967	-0.345000	0.09787	-2.067000	0.00410	0.884000	0.31069	0.000000	0.08366	0.004000	0.06068	0.0:0.6514:0.2049:0.1438	5.103	0.14102	189	0.92630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1811.98	133	chr12	57782806	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=859;ExcessHet=0.0000;FS=4.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=1.98;SOR=0.685	GT:AD:DP:GQ:PL	0/1:60,73:133:99:1826,0,1362	20	0	1	0
chr12	62689734	62689734	T	C	exonic	PPM1H	.	nonsynonymous SNV	PPM1H:NM_020700:exon8:c.A1210G:p.I404V,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.756	P	0.401	B	0.000	D	1.000	D	1.15	L	2.99	T	-1.073	T	0.031	T	0.503	4.272	22.3	5.72	2.184	7.633	16.004	0.151	0.0229730289377	0.0012	.	0.0011	0.0005	0.0003	0	0	0.0018	0	0.0003	0.0009702	150	154602	rs201286163	0.0007	0.0007	0.0006	0.0007	0.0033	0.0006	0.0006	0.0022	0.0018	5.974e-05	0.0006	0.0144	0	0	0.0033	0.0004	0.0017	0.0004	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0005	0.0008	0.0006	0.0001	0	0.0012	0.0133	0	0	0	0.0004	0.0019	0.0004	0.193	0.20912	T	0.258	0.23164	T	0.756	0.43409	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.46	0.12951	N	2.99	0.09262	T	-0.55	0.16799	N	0.495	0.52829	-1.0735	0.08660	T	0.031	0.13286	T	9	0.008463144	0.00192	T	0.022973	0.45902	T	0.151	0.39764	.	.	0.0675242888579	0.06100	0.40792902563073197	0.40708	1.0503128357	0.76124	0.783047556877	0.79388	T	0.005429	0.04881	T	-0.35751	0.04272	T	-0.377864	0.35973	T	0.0235259052351158	0.01086	T	0.940906	0.77861	D	0.109454066	0.25876	0.13789979	0.32948	0.109454066	0.25876	0.13789979	0.32947	-8.167	0.62202	D	.	.	0.234	0.46779	B	.	.	3.949952	0.57854	23.9	0.99860786439386962	0.93911	0.98142	0.79959	D	AEFDBI	0.947334	0.95777	D	0.402252069594705	0.61548	4.357235	0.507922572596604	0.68522	5.23175	0.999999999999795	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	5.72	5.72	0.89380	7.610000	0.82153	7.836000	0.70319	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.004	0.80122	464	0.78488	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	1065.98	100	chr12	62689734	.	T	C	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.705e+00;DP=806;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-3.410e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1080,0,1377	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	0/1:31,10:41:3:3,0,557	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	0/1:9,6,9,2:31:8:207,0,254,8,38,119,250,147,123,509	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	0/1:9,6,9,2:31:8:207,0,254,8,38,119,250,147,123,509	3	0	8	0
chr12	88060951	88060951	A	G	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon47:c.T6401C:p.I2134T,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	.	386	1115	18	3	0	24	0.0106477	.	.	177274	Meckel_syndrome,_type_4|not_provided|Nephronophthisis|Familial_aplasia_of_the_vermis|Meckel-Gruber_syndrome|not_specified|Leber_congenital_amaurosis|Leber_congenital_amaurosis_10|Intellectual_disability|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|Joubert_syndrome_5	MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:CN169374|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.964	D	0.000	D	1.000	D	2.36	M	-0.3	T	-0.065	T	0.483	T	0.841	4.329	22.7	6.03	2.308	8.572	16.558	0.406	.	0.0055	0.00579073	0.0147	0.0019	0.0014	0	0.0011	0.0191	0.0069	0.0195	0.0053816	832	154602	rs117852025	0.0075	0.0075	0.0072	0.0078	0.0163	0.0074	0.0074	0.0155	0.0152	0.0012	0.0024	0.0363	5.289e-05	0.0011	0.0163	0.0070	0.0100	0.0163	0.0053	0.0053	0.0054	0.0051	0.0137	0.0050	0.0049	0.0110	0.0101	0.0015	0	0.0018	0.0478	0.0008	0.0009	0.0102	0.0066	0.0062	0.0137	0.003	0.68238	D	0.019	0.59159	D	0.999	0.77913	D	0.964	0.71005	D	0.000003	0.62929	D	0.101317	0.99994	0.51968	D	1.975	0.53506	M	-0.9	0.74896	T	-1.88	0.43906	N	0.834	0.95021	-0.0647	0.80894	T	0.483	0.80270	T	10	0.009030223	0.00204	T	.	.	.	0.406	0.71869	.	.	0.875205848546	0.87398	0.34686869949352617	0.34600	0.378355118775	0.39249	0.710693120956	0.68693	T	0.476381	0.80704	T	-0.0341945	0.46804	T	0.189782	0.82556	D	0.0166690938146821	0.00426	T	0.847515	0.52873	T	0.16860478	0.37327	0.25384763	0.51040	0.19353971	0.41067	0.26356167	0.52163	-8.001	0.61077	D	0.7348488337888284	0.81667	0.347	0.56403	A	.;.;.	.;.;.	4.609159	0.73081	25.9	0.99875343345217849	0.95244	0.98733	0.86156	D	AEFBI	0.884967	0.81510	D	0.806607080363494	0.86520	8.911169	0.806839436661137	0.90263	10.32915	0.999996654593781	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	8.349000	0.89970	11.229000	0.90032	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.558	0.84362	876	0.30350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	950.98	105	chr12	88060951	.	A	G	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=980;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=0.059;SOR=1.011	GT:AD:DP:GQ:PL	0/1:62,43:105:99:965,0,1541	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:24,23,0,0,0:47:99:812,0,875,884,944,1828,884,944,1828,1828,884,944,1828,1828,1828	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:24,23,0,0,0:47:99:812,0,875,884,944,1828,884,944,1828,1828,884,944,1828,1828,1828	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:24,23,0,0,0:47:99:812,0,875,884,944,1828,884,944,1828,1828,884,944,1828,1828,1828	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:24,23,0,0,0:47:99:812,0,875,884,944,1828,884,944,1828,1828,884,944,1828,1828,1828	6	1	11	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	0|2:19,0,14:33:99:0|1:111598949_GGCT_G:304,361,908,0,546,504:111598949	2	0	0	0
chr12	111803888	111803888	A	G	exonic	ALDH2	.	nonsynonymous SNV	ALDH2:NM_001204889:exon11:c.A1295G:p.Q432R	Alcohol sensitivity, acute, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.999	D	0.000	D	1.000	D	0.09	N	-0.98	T	-0.144	T	0.387	T	0.893	5.154	32	6.05	2.311	8.931	16.599	0.602	0.0250667227395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1363211124	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.254	0.24621	T	0.856	0.47190	P	0.965	0.71173	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	-0.13	0.04535	N	-0.98	0.75789	T	-2.09	0.50502	N	0.759	0.77413	-0.1442	0.79062	T	0.387	0.74239	T	10	0.7503093	0.75588	D	0.025067	0.48051	D	0.602	0.84291	0.529	0.63560	0.907868606411	0.90695	0.8305240101704047	0.83011	1.0463327506	0.75963	0.729191243649	0.71388	T	0.634925	0.88732	D	0.328419	0.85057	D	0.233975	0.84861	D	0.789711952209473	0.45671	D	0.965703	0.87317	D	0.8849698	0.90080	0.7723809	0.86565	0.8849698	0.90081	0.7723809	0.86565	-11.219	0.80845	D	.	.	0.562	0.71884	A	.;.	.;.	4.522792	0.70923	25.6	0.99826978150363033	0.90939	0.99592	0.97780	D	AEFDBI	0.969877	0.99222	D	0.558242431860142	0.70586	5.523239	0.652888456573621	0.78827	6.95506	0.999999959053495	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	8.942000	0.92506	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	1.0:0.0:0.0:0.0	16.599	0.84659	331	0.86429	.;Aldehyde dehydrogenase domain	.	.	.	.	.	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	998.98	113	chr12	111803888	.	A	G	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e+00;DP=791;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.84;ReadPosRankSum=1.04;SOR=0.828	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1013,0,1344	20	0	1	0
chr12	112969968	112969968	G	A	exonic	OAS3	.	nonsynonymous SNV	OAS3:NM_006187:exon16:c.G3259A:p.V1087M,	.	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.825	P	.	.	1.000	N	1.39	L	3.26	T	-1.051	T	0.012	T	0.214	2.702	14.99	1.67	0.657	1.256	5.205	0.073	.	0.0025	0.0111821	0.0051	0.0148	0.0038	0.0293	0	0.0005	0.0099	0.0074	0.0036222	560	154602	rs45620632	0.0018	0.0018	0.0017	0.0019	0.0243	0.0017	0.0017	0.0230	0.0225	0.0132	0.0028	0	0.0243	0	0.0069	0.0003	0.0031	0.0067	0.0046	0.0046	0.0045	0.0048	0.0239	0.0043	0.0042	0.0205	0.0192	0.0121	0	0.0010	0	0.0239	0	0.0034	0.0003	0.0033	0.0075	0.001	0.78490	D	0.002	0.79402	D	0.971	0.57185	D	0.825	0.59331	P	.	.	.	.	0.998073	0.22636	N	2.075	0.57047	M	3.26	0.06681	T	-0.47	0.15178	N	0.152	0.15609	-1.0508	0.14175	T	0.012	0.04700	T	9	0.0069549084	0.00158	T	.	.	.	0.073	0.21317	.	.	0.326345978581	0.32251	0.13171651565396178	0.13096	0.206661996556	0.23098	0.448494285345	0.31738	T	0.012288	0.10825	T	-0.541638	0.00328	T	-0.533217	0.18968	T	0.0430366376457403	0.04244	T	0.711229	0.32236	T	0.06177721	0.12831	0.118430346	0.28588	0.06177721	0.12830	0.118430346	0.28588	-5.095	0.37855	T	.	.	0.166	0.36535	B	.	.	3.061432	0.41119	21.3	0.99739855961419721	0.83409	0.43496	0.27111	N	AEFGBCI	0.056852	0.10542	N	0.0050213790785397	0.42084	2.528999	-0.144398560940454	0.33625	1.925342	0.999986217728054	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.655142	0.61905	0	.	.	2.58	1.67	0.23149	1.271000	0.32700	0.703000	0.20862	0.676000	0.76740	0.899000	0.31403	0.331000	0.24373	0.805000	0.37950	0.1672:0.0:0.8328:0.0	5.205	0.14608	126	0.94940	.	.	.	.	.	.	Likely benign	0	0	0	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	739.98	49	chr12	112969968	.	G	A	739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.732e+00;DP=738;ExcessHet=0.0000;FS=2.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=-5.570e-01;SOR=0.358	GT:AD:DP:GQ:PL	0/1:17,32:49:99:754,0,400	20	0	1	0
chr12	113186882	113186882	C	T	exonic	RITA1	.	nonsynonymous SNV	RITA1:NM_001286215:exon2:c.C208T:p.R70W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.966	D	0.000	D	1.000	N	2.215	M	1.17	T	-0.891	T	0.192	T	0.429	1.978	12.57	2.99	0.594	0.372	11.487	0.108	0.0217566792094	.	.	1.699e-05	0	0	0	0	3.078e-05	0	0	1.29e-05	2	154602	rs767044077	2.258e-05	2.326e-05	1.77e-05	2.75e-05	2.788e-05	1.61e-05	1.416e-05	1.998e-05	1.74e-05	0	0	0	2.519e-05	0	0	2.788e-05	1.656e-05	0	3.285e-05	3.283e-05	3.854e-05	2.69e-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	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.966	0.71341	D	0.000090	0.51296	D	0.000000	1	0.08975	N	2.425	0.70256	M	1.17	0.38397	T	-4.83	0.80943	D	0.462	0.51494	-0.8908	0.48864	T	0.192	0.54433	T	10	0.3685466	0.53293	T	0.021757	0.44572	T	0.108	0.30607	0.352	0.35084	0.322510055762	0.31862	0.26382951316115666	0.26295	0.789902996822	0.65725	.	.	.	0.045825	0.27239	T	-0.123275	0.32591	T	-0.351206	0.39067	T	0.979924082756042	0.73085	D	0.79622	0.43953	T	0.52898175	0.68773	0.3312542	0.58986	0.52898175	0.68774	0.3312542	0.58986	-5.883	0.45290	T	.	.	0.136	0.30318	B	.;.;.	.;.;.	2.898851	0.38415	20.7	0.9984056754964844	0.92143	0.18242	0.20179	N	AEFDBCI	0.252572	0.37223	N	-0.0763297688726808	0.38432	2.250885	-0.309356282891595	0.27795	1.544924	0.99998989033867	0.51787	0.722319	0.85440	0	0.685571	0.66316	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	4.86	2.99	0.33673	0.462000	0.21667	1.794000	0.28824	0.599000	0.40250	0.111000	0.23011	0.978000	0.30204	0.100000	0.18284	0.3169:0.6831:0.0:0.0	11.487	0.49609	723	0.55174	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1485.98	109	chr12	113186882	.	C	T	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=789;ExcessHet=0.0000;FS=1.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-4.400e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1500,0,1293	20	0	1	0
chr12	113384886	113384886	C	T	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_173542:exon8:c.C1154T:p.A385V,	.	.	.	.	.	.	.	.	.	.	.	3470847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.265	B	0.071	N	1.000	N	1.69	L	2.21	T	-1.037	T	0.034	T	0.152	0.921	8.750	4.08	1.094	1.154	7.985	0.077	0.0136871734998	7.7e-05	.	3.406e-05	0	0	0	0	6.185e-05	0	0	3.23e-05	5	154602	rs368832479	1.876e-05	1.847e-05	1.521e-05	2.234e-05	2.632e-05	1.285e-05	1.101e-05	1.479e-05	1.243e-05	0	0	0	2.632e-05	0	0	2.186e-05	1.698e-05	1.162e-05	2.661e-05	2.648e-05	3.904e-05	1.361e-05	6.611e-05	8.22e-06	5.19e-06	1.179e-05	6.27e-06	0	0	6.611e-05	0	0	0	0	4.441e-05	0	0	0.229	0.18371	T	0.244	0.24123	T	0.958	0.54977	D	0.265	0.39681	B	0.070614	0.21528	N	0.516966	1	0.08975	N	2.56	0.74772	M	2.21	0.18414	T	-1.36	0.33798	N	0.336	0.37717	-1.0367	0.18326	T	0.034	0.14552	T	10	0.3458894	0.51554	T	0.013687	0.33283	T	0.077	0.22490	.	.	0.389904358541	0.38601	0.7666111244124003	0.76610	0.677698919857	0.59836	0.40225276351	0.25383	T	0.02205	0.17066	T	-0.324969	0.06498	T	-0.574121	0.15074	T	0.280055105686188	0.24174	T	0.739826	0.35853	T	0.023426747	0.01081	0.0485345	0.07229	0.023426747	0.01081	0.0485345	0.07229	-6.268	0.48469	T	.	.	0.085	0.10208	B	.	.	1.987082	0.25245	16.69	0.99206325733102274	0.55442	0.24242	0.22332	N	AEFDBI	0.177812	0.30506	N	-0.181273179661891	0.33915	1.92963	-0.231294561892591	0.30421	1.712708	0.00444168744222961	0.10561	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.97	4.08	0.46880	1.151000	0.31263	0.804000	0.21687	-0.232000	0.07691	0.377000	0.25981	0.231000	0.23784	0.309000	0.24713	0.1581:0.7601:0.0:0.0818	7.985	0.29371	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	650.98	51	chr12	113384886	.	C	T	650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.608;DP=736;ExcessHet=0.0000;FS=3.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.954e+00;SOR=1.009	GT:AD:DP:GQ:PL	0/1:24,27:51:99:665,0,538	20	0	1	0
chr12	113463264	113463264	T	C	exonic	LHX5	.	nonsynonymous SNV	LHX5:NM_022363:exon5:c.A1135G:p.M379V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.028	B	0.014	B	0.000	D	0.971	D	0.405	N	-2.65	D	-0.327	T	0.477	T	0.291	-0.588	1.364	4.08	1.627	0.910	13.372	0.247	0.934971996079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909786353	1.237e-05	1.163e-05	1.724e-05	7.369e-06	2.943e-05	7.53e-06	6.16e-06	8.39e-06	6.65e-06	0	2.943e-05	0	0	0	0	1.398e-05	1.75e-05	0	6.591e-06	6.572e-06	1.288e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.619	0.05325	T	1.0	0.01155	T	0.028	0.19712	B	0.014	0.16862	B	0.000014	0.62929	D	0.000000	0.970903	0.38832	D	1.39	0.34934	L	-2.65	0.90210	D	-0.72	0.20358	N	0.294	0.33250	-0.3274	0.74209	T	0.477	0.79966	T	10	0.22902635	0.39821	T	0.934972	0.99533	D	0.247	0.55478	0.263	0.20788	0.770803431127	0.76870	0.2341408566955031	0.23329	.	.	0.73280775547	0.71916	T	0.137705	0.47079	T	-0.0165011	0.49352	T	-0.215282	0.53190	T	0.0791358208183285	0.09875	T	0.739826	0.35853	T	0.4026646	0.60917	0.38938934	0.63760	0.4026646	0.60917	0.38938934	0.63759	-3.201	0.12493	T	.	.	0.056	0.00436	B	.	.	1.884028	0.23932	16.21	0.42490790085727553	0.03136	0.85938	0.45131	D	AEFDBCI	0.269925	0.38610	N	-0.426725224573424	0.24535	1.32553	-0.242414097043902	0.30034	1.687586	0.999965382167788	0.48965	0.455138	0.09556	0	0.563428	0.19063	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.08	4.08	0.46880	1.253000	0.32488	0.948000	0.22902	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	13.372	0.60163	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	0	0	0	0	0.02381	658.98	64	chr12	113463264	.	T	C	658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.120e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-2.240e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/1:37,27:64:99:673,0,1019	20	0	1	0
chr12	117046812	117046812	T	C	exonic	TESC	.	nonsynonymous SNV	TESC:NM_001168325:exon4:c.A295G:p.S99G	.	.	.	.	.	.	.	.	.	.	.	2756648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	0.001	D	0.970	D	-1.52	N	0.11	T	-1.026	T	0.051	T	0.318	2.027	12.73	4.68	1.969	3.572	10.159	0.095	0.0107267023642	.	.	0.0001	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs531621385	3.521e-05	3.625e-05	2.508e-05	4.558e-05	0.0004	2.709e-05	2.445e-05	0.0003	0.0002	0	2.631e-05	0	0	0	0	1.468e-05	6.792e-05	0.0004	3.949e-05	3.943e-05	3.86e-05	4.043e-05	0.0004	1.718e-05	1.131e-05	7.299e-05	3.032e-05	2.418e-05	0	0	0	0	0	0	4.412e-05	0	0.0004	0.513	0.07695	T	0.702	0.07059	T	0.0	0.02946	B	0.001	0.04355	B	0.000761	0.41888	D	0.272659	0.970304	0.38789	D	-0.77	0.01674	N	0.11	0.61208	T	-1.49	0.36385	N	0.397	0.47208	-1.0264	0.21625	T	0.051	0.21806	T	10	0.13672906	0.26012	T	0.010727	0.27599	T	0.095	0.27398	0.361	0.36548	0.340432005269	0.33650	0.2970188629846244	0.29614	0.421294858915	0.42638	0.563868820667	0.47813	T	0.08636	0.37707	T	-0.311298	0.07634	T	-0.348675	0.39356	T	0.0997790461446925	0.12333	T	0.790321	0.43084	T	0.08139475	0.18699	0.067562886	0.13994	0.08139475	0.18698	0.067562886	0.13994	-2.108	0.03618	T	.	.	0.067	0.02548	B	.;.	.;.	2.999023	0.40067	21.1	0.98225779255193157	0.39343	0.82495	0.41714	D	AEFDBCI	0.817546	0.73900	D	-0.489124263234231	0.22437	1.198025	-0.207948501335024	0.31248	1.766754	0.999999866676421	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.68	4.68	0.58319	3.153000	0.50383	6.088000	0.53416	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.1494:0.0:0.0:0.8506	10.159	0.42017	966	0.07191	EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	766.98	81	chr12	117046812	.	T	C	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=800;ExcessHet=0.0000;FS=6.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-1.680e-01;SOR=1.439	GT:AD:DP:GQ:PL	0/1:47,34:81:99:781,0,1192	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:23,9,20,0,0,0:54:99:806,223,879,0,583,878,635,958,778,1303,635,958,778,1303,1303,635,958,778,1303,1303,1303	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:23,9,20,0,0,0:54:99:806,223,879,0,583,878,635,958,778,1303,635,958,778,1303,1303,635,958,778,1303,1303,1303	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:23,9,20,0,0,0:54:99:806,223,879,0,583,878,635,958,778,1303,635,958,778,1303,1303,635,958,778,1303,1303,1303	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:23,9,20,0,0,0:54:99:806,223,879,0,583,878,635,958,778,1303,635,958,778,1303,1303,635,958,778,1303,1303,1303	4	0	0	0
chr12	123602189	123602189	T	G	exonic	DDX55	.	nonsynonymous SNV	DDX55:NM_020936:exon1:c.T41G:p.V14G,	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.136	B	0.025	B	0.175	N	1.000	D	2.215	M	3.95	T	-1.040	T	0.013	T	0.765	0.783	8.130	3.89	0.941	2.926	9.525	0.235	.	0.0022	0.00119808	0.0058	0.0014	0.0080	0	0.0054	0.0118	0	0.0009	0.0018693	289	154602	rs141195308	0.0033	0.0032	0.0034	0.0032	0.0038	0.0032	0.0031	0.0037	0.0036	0.0006	0.0013	0.0034	0	0.0011	0.0037	0.0038	0.0036	0.0006	0.0026	0.0026	0.0029	0.0024	0.0046	0.0024	0.0023	0.0042	0.0040	0.0008	0.0077	0.0010	0.0032	0	0.0012	0.0034	0.0046	0.0024	0.0002	0.172	0.32929	T	0.369	0.41405	T	0.136	0.27347	B	0.025	0.20508	B	0.175019	0.17263	N	0.578293	1	0.81001	D	2.33	0.66821	M	3.95	0.04188	T	-2.48	0.54059	N	0.564	0.59478	-1.0397	0.17404	T	0.013	0.04938	T	10	0.007573396	0.00172	T	.	.	.	0.235	0.53788	.	.	0.15556083564	0.15200	0.8740495128730666	0.87370	0.227375374882	0.25290	0.590337991714	0.51541	T	0.159261	0.50262	T	-0.329833	0.06124	T	-0.240019	0.50796	T	0.0323839035918789	0.02369	T	0.714229	0.32652	T	0.10473082	0.24759	0.16195619	0.37644	0.10473082	0.24758	0.16195619	0.37643	-10.603	0.77437	D	.	.	0.164	0.42763	B	.;.	.;.	2.544641	0.32927	19.19	0.55766816005005615	0.05411	0.94296	0.60715	D	ALL	0.316608	0.42084	N	-0.365254497385355	0.26716	1.460158	-0.344872438617722	0.26668	1.474507	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.03	3.89	0.44098	2.341000	0.43640	2.629000	0.33681	0.661000	0.55757	0.991000	0.37257	1.000000	0.68203	0.023000	0.12082	0.0:0.0796:0.0:0.9204	9.525	0.38322	348	0.85549	RNA helicase, DEAD-box type, Q motif;RNA helicase, DEAD-box type, Q motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	494.98	40	chr12	123602189	.	T	G	494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.351e+00;DP=707;ExcessHet=0.0000;FS=1.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.96;SOR=0.888	GT:AD:DP:GQ:PL	0/1:17,23:40:99:509,0,389	20	0	1	0
chr12	124347842	124347842	C	T	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon31:c.G4025A:p.R1342H	.	.	426	1075	19	2	0	23	0.0105844	.	.	2817097	not_provided|NCOR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	1.78	L	1.33	T	-0.656	T	0.187	T	0.709	2.369	13.88	4.97	2.289	3.613	18.221	0.331	.	0.0054	0.00239617	0.0091	0.0008	0.0133	0	0.0092	0.0150	0	0.0045	0.0041849	647	154602	rs36081651	0.0070	0.0070	0.0071	0.0070	0.0082	0.0069	0.0069	0.0081	0.0080	0.0015	0.0033	0.0004	0	0.0027	0.0028	0.0082	0.0052	0.0047	0.0050	0.0050	0.0051	0.0049	0.0081	0.0047	0.0046	0.0075	0.0073	0.0020	0	0.0049	0	0.0002	0.0020	0.0034	0.0081	0.0062	0.0035	0.002	0.72154	D	0.019	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.060712	0.999988	0.54805	D	.	.	.	0.98	0.52642	T	-3.76	0.71276	D	0.659	0.70966	-0.6562	0.62443	T	0.187	0.53782	T	10	0.0076479316	0.00174	T	.	.	.	0.331	0.65325	.	.	0.630848879153	0.62783	0.31280919931542533	0.31193	0.78987071567	0.65723	0.719672679901	0.69999	T	0.320496	0.69168	T	-0.248564	0.14274	T	-0.116847	0.62060	T	0.0165952890075181	0.00420	T	0.958704	0.87984	D	0.5638964	0.70725	0.49180996	0.70603	0.5638964	0.70726	0.49180996	0.70603	-12.515	0.87269	D	.	.	0.304	0.53277	B	.;.;.;.;.;.	.;.;.;.;.;.	5.155787	0.86370	28.9	0.99824046849717452	0.90677	0.90369	0.51490	D	AEFDGBHCI	0.506315	0.53709	D	0.517145431394441	0.68102	5.171424	0.455610526932754	0.65076	4.778456	0.999989857141621	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.97	4.97	0.65419	3.680000	0.54375	5.827000	0.50131	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.838000	0.39538	0.0:1.0:0.0:0.0	18.221	0.89838	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	1086.98	101	chr12	124347842	.	C	T	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.415;SOR=0.757	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1101,0,1164	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	0/1:30,9,0,0,0:39:99:279,0,1199,371,1227,1597,371,1227,1597,1597,371,1227,1597,1597,1597	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	0/1:30,9,0,0,0:39:99:279,0,1199,371,1227,1597,371,1227,1597,1597,371,1227,1597,1597,1597	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	0/1:30,9,0,0,0:39:99:279,0,1199,371,1227,1597,371,1227,1597,1597,371,1227,1597,1597,1597	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	0/1:30,9,0,0,0:39:99:279,0,1199,371,1227,1597,371,1227,1597,1597,371,1227,1597,1597,1597	0	1	2	0
chr12	130456574	130456574	C	G	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon5:c.G229C:p.A77P	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.895	P	0.502	P	0.001	D	0.884	N	1.935	M	2.07	T	-1.057	T	0.062	T	0.331	0.981	9.004	3.26	0.704	2.637	8.572	0.083	0.00343772307036	0.0002	0.000399361	0.0005	9.733e-05	8.669e-05	0	0	0.0003	0.0034	0.0022	0.0003816	59	154602	rs201638148	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0003	0.0015	0.0014	0	0.0002	7.657e-05	0	0	0.0009	0.0002	0.0005	0.0017	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	9.627e-05	0	6.534e-05	0	0	0	0	0.0003	0.0005	0.0019	0.037	0.43085	D	0.207	0.26969	T	0.895	0.49247	P	0.502	0.47702	P	0.000995	0.40743	D	0.166924	1	0.27994	N	2.36	0.67893	M	2.07	0.20387	T	-0.8	0.22078	N	0.371	0.41261	-1.0571	0.12491	T	0.062	0.25815	T	10	0.014695227	0.00309	T	0.003438	0.07755	T	0.083	0.24192	.	.	0.427024044652	0.42321	0.2062256065059655	0.20539	0.359462052903	0.37640	0.311935603619	0.12200	T	0.024769	0.18650	T	-0.470436	0.00845	T	-0.45531	0.27111	T	0.0248071840268435	0.01247	T	0.570643	0.20399	T	0.12527694	0.29371	0.1407031	0.33530	0.12527694	0.29371	0.1407031	0.33530	-2.8	0.08184	T	.	.	0.087	0.11317	B	.;.;.;.	.;.;.;.	1.668903	0.21281	15.13	0.97834097804482223	0.36279	0.81314	0.40744	D	AEFDBI	0.600301	0.59298	D	-0.0114164086729131	0.41337	2.470856	-0.133380780922016	0.34054	1.954644	1.86389875425032E-4	0.05844	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.18	3.26	0.36471	2.121000	0.41601	-0.426000	0.09253	0.595000	0.32841	0.963000	0.33788	0.000000	0.08366	0.045000	0.14751	0.1513:0.7648:0.0:0.0839	8.572	0.32733	991	0.01385	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	94	chr12	130456574	.	C	G	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.685;DP=850;ExcessHet=0.0000;FS=2.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.44;SOR=1.018	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1208,0,979	20	0	1	0
chr12	131841782	131841782	C	T	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon5:c.C865T:p.R289C,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.964	D	0.002	N	1.000	D	1.76	L	2.03	T	-1.044	T	0.101	T	0.903	3.001	16.01	3.23	1.045	1.039	11.374	0.300	0.0971231120219	.	.	7.186e-05	0	0	0.0002	0	2.679e-05	0	0.0003	3.23e-05	5	154602	rs773095803	2.688e-05	3.215e-05	2.468e-05	2.911e-05	0.0003	2.013e-05	1.767e-05	0.0002	0.0002	0	0	0	0.0003	0	0	1.264e-05	1.67e-05	0.0001	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.276e-05	3.024e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.065	0.58626	T	0.104	0.69154	T	1.0	0.90584	D	0.964	0.71005	D	0.002103	0.37227	N	0.222920	0.999999	0.58761	D	2.71	0.79292	M	2.03	0.20959	T	-2.87	0.62151	D	0.795	0.79118	-1.0443	0.16030	T	0.101	0.37443	T	10	0.74507797	0.75230	D	0.097123	0.76719	D	0.300	0.62068	0.743	0.87486	0.491112125781	0.48745	0.7879208225009229	0.78744	0.895017096395	0.70418	0.705694794655	0.67968	T	0.375433	0.73903	T	-0.00206591	0.51368	T	0.0335557	0.72509	D	0.66732132434845	0.39218	D	0.981452	0.94028	D	0.4062468	0.61163	0.21888874	0.46608	0.4062468	0.61164	0.21888874	0.46607	-13.986	0.93477	D	.	.	0.243	0.53433	B	.;.;.	.;.;.	4.789311	0.77707	26.8	0.99903806757294167	0.97502	0.81836	0.41161	D	AEFBI	0.440982	0.49932	N	0.307293686235638	0.56523	3.817068	0.212940666006597	0.50565	3.247179	0.135193394964021	0.17168	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.15	3.23	0.36150	1.107000	0.30724	3.229000	0.36897	0.539000	0.25131	0.998000	0.41325	1.000000	0.68203	0.253000	0.23340	0.3292:0.6708:0.0:0.0	11.374	0.48956	982	0.03397	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;.;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, 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	537.98	51	chr12	131841782	.	C	T	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=780;ExcessHet=0.0000;FS=3.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-2.080e-01;SOR=1.233	GT:AD:DP:GQ:PL	0/1:27,24:51:99:552,0,605	20	0	1	0
chr12	132062526	132062526	-	GCA	exonic	EP400	.	nonframeshift insertion	EP400:NM_015409:exon47:c.8159_8160insGCA:p.Q2748_T2749insQ,	.	.	350	929	220	16	7	259	0.119431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:67,25,0:92:99:706,0,2677,910,2752,3662	15	0	5	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del,	.	.	350	929	220	16	7	259	0.119431	.	.	3198656	EP400-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:67,25,0:92:99:706,0,2677,910,2752,3662	15	0	5	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,31,0,0,0:31:99:.:.:1388,99,0,1388,99,1388,1388,99,1388,1388,1388,99,1388,1388,1388	4	2	6	0
chr13	20512513	20512513	T	C	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon2:c.A79G:p.S27G	.	.	8	1511	3	0	0	3	0.000991736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.207	B	0.149	B	0.000	N	1.000	D	1.31	L	-1.09	T	-0.806	T	0.282	T	0.28	1.647	11.47	3.24	0.438	0.841	4.998	0.166	0.0238275151096	0.0003	0.000199681	0.0002	0	0.0004	0	0	0.0002	0	0.0003	0.0001876	29	154602	rs201748334	0.0001	0.0001	9.121e-05	0.0001	0.0019	9.05e-05	8.532e-05	0.0011	0.0008	0	0.0001	0.0013	0	0	0.0019	4.676e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0002	0.0008	8.657e-05	7.25e-05	0.0003	0.0002	0	0	0.0001	0.0014	0	0	0.0034	0.0001	0.0005	0.0008	0.244	0.17468	T	0.485	0.12421	T	0.207	0.29891	B	0.149	0.34106	B	0.000001	0.84330	N	0.126220	0.99937	0.50595	D	1.52	0.38360	L	-1.09	0.77206	T	-1.03	0.28084	N	0.186	0.20262	-0.8065	0.54760	T	0.282	0.65359	T	10	0.043402553	0.03186	T	0.023828	0.46806	T	0.166	0.42578	.	.	0.574533306093	0.57122	0.53266866701041	0.53191	0.231166425372	0.25661	0.490114033222	0.37455	T	0.253714	0.62428	T	-0.269384	0.11826	T	-0.328536	0.41631	T	0.0275458127256736	0.01622	T	0.777122	0.42203	T	0.20102571	0.42098	0.07880914	0.17684	0.20102571	0.42098	0.07880914	0.17684	-8.392	0.63712	D	.	.	0.076	0.13830	B	.;.;.;.	.;.;.;.	1.848353	0.23484	16.03	0.92254471279087458	0.21634	0.66991	0.33272	D	AEFBI	0.264074	0.38149	N	-0.237997059770668	0.31585	1.772544	-0.114564582281258	0.34802	2.006075	0.918479003275392	0.26573	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.65	3.24	0.36257	0.664000	0.24749	1.142000	0.24413	-0.674000	0.04282	1.000000	0.71638	1.000000	0.68203	0.273000	0.23843	0.1359:0.152:0.0:0.7121	4.998	0.13597	728	0.54609	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, 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	0	0	0	0	0.04762	1661.11	73	chr13	20512513	.	T	C	1661.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=819;ExcessHet=0.1072;FS=3.128;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.128;SOR=0.522	GT:AD:DP:GQ:PL	0/1:32,41:73:99:973,0,669	19	0	2	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	0/2:28,0,26,0:54:99:774,858,1793,0,935,856,858,1793,935,1793	1	1	4	0
chr13	23590242	23590242	T	A	exonic	TNFRSF19	.	nonsynonymous SNV	TNFRSF19:NM_001204458:exon2:c.T59A:p.L20Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.984	D	0.906	P	0.052	N	1.000	D	2.445	M	-1.31	T	0.323	D	0.629	D	0.842	2.962	15.87	5.32	2.151	3.647	11.96	0.536	0.109574842538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.009	0.66756	D	0.984	0.60733	D	0.906	0.64351	P	0.051843	0.22945	N	0.426890	0.999962	0.52935	D	2.6	0.76081	M	-1.31	0.79666	T	-2.21	0.49684	N	0.872	0.86941	0.323	0.87925	D	0.629	0.86997	D	10	0.7755462	0.77429	D	0.109575	0.78660	D	0.536	0.80545	0.405	0.43738	0.89672547291	0.89570	0.7116146942776642	0.71103	0.487133243489	0.47548	0.3604426682	0.19450	T	0.315992	0.68756	T	0.283831	0.81640	D	0.169927	0.81404	D	0.920259296894073	0.57934	D	0.724828	0.33863	T	0.2923781	0.52213	0.34154496	0.59892	0.2923781	0.52213	0.34154496	0.59891	-6.403	0.49533	T	.	.	0.426	0.60999	A	.;.;.	.;.;.	3.624700	0.51315	23.1	0.99119341082169021	0.52958	0.64845	0.32540	D	AEFBI	0.216533	0.34176	N	0.216737744845825	0.52010	3.37804	0.045951736300062	0.41875	2.523262	0.999999873465445	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	3.813000	0.55340	7.839000	0.70444	0.609000	0.47794	0.266000	0.25007	0.994000	0.32194	0.061000	0.16044	0.0:0.0:0.0:1.0	11.96	0.52291	982	0.03397	.;.;.	.	.	.	.	.	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	892.98	94	chr13	23590242	.	T	A	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=795;ExcessHet=0.0000;FS=1.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=2.23;SOR=0.518	GT:AD:DP:GQ:PL	0/1:55,39:94:99:907,0,1343	20	0	1	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|1:218,26,0:244:99:0|1:25097005_A_G:429,0,9076,1085,9154,10239:25097005	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:218,0,26:244:99:0|1:25097005_A_G:429,1085,10239,0,9154,9076:25097005	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:218,0,26:244:99:0|1:25097005_A_G:429,1085,10239,0,9154,9076:25097005	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,26,0:231:99:0|1:25097005_A_G:465,0,8496,1083,8574,9656:25097005	4	0	16	0
chr13	26676631	26676631	T	C	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_006646:exon7:c.T623C:p.M208T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.469	P	0.135	B	0.000	D	1.000	D	2.19	M	0.86	T	-0.844	T	0.155	T	0.863	3.513	17.94	5.77	2.200	7.608	16.066	0.269	0.0231026116929	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769209646	2.736e-06	2.736e-06	5.445e-06	0	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	1.872e-05	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.084	0.41239	T	0.469	0.36524	P	0.135	0.33210	B	0.000000	0.84330	D	0.068628	1	0.81001	D	2.015	0.55033	M	0.86	0.46777	T	-3.75	0.71157	D	0.925	0.92901	-0.8440	0.52379	T	0.155	0.48687	T	10	0.594343	0.66556	D	0.023103	0.46041	T	0.269	0.58381	0.301	0.26843	0.117191471859	0.11215	0.5417486398968957	0.54099	0.646625140246	0.58073	0.857486248016	0.90739	D	0.393157	0.75264	T	0.222851	0.76045	D	0.0823333	0.75733	D	0.914670348167419	0.57140	D	0.956104	0.83363	D	0.77613574	0.82417	0.7918367	0.87759	0.77613574	0.82419	0.7918367	0.87760	-6.228	0.48149	T	.	.	0.971	0.89618	P	.	.	3.227704	0.44003	21.8	0.98941219764225419	0.48940	0.97725	0.76683	D	AEFBI	0.885906	0.81684	D	0.380803316447592	0.60382	4.226536	0.491168664623474	0.67403	5.079419	0.99999999996344	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.585000	0.81876	7.782000	0.68692	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.066	0.80674	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	224.68	133	chr13	26676631	.	T	C	224.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.769e+00;DP=1407;ExcessHet=0.3300;FS=145.778;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.872;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,24:133:46:.:.:46,0,2816	18	0	3	0
chr13	27924565	27924565	C	A	exonic	PDX1	.	nonsynonymous SNV	PDX1:NM_000209:exon2:c.C716A:p.P239Q,	MODY, type IV;Pancreatic agenesis 1, Autosomal recessive	.	3	1509	10	0	0	10	0.00330251	.	.	135327	Maturity_onset_diabetes_mellitus_in_young|not_provided|Pancreatic_hypoplasia|Maturity-onset_diabetes_of_the_young_type_4|not_specified|Monogenic_diabetes	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002594,Human_Phenotype_Ontology:HP:0005221,MedGen:C0266267|MONDO:MONDO:0011667,MedGen:C1833382,OMIM:606392,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.018	B	0.032	N	0.992	N	0.345	N	-2.9	D	-0.628	T	0.317	T	0.081	2.044	12.79	2.78	2.287	1.203	4.480	0.221	.	0.0056	0.00638978	0.0105	0.0324	0.0051	0.0037	0.0112	0.0098	0.0132	0.0094	0.0032341	500	154602	rs199644078	0.0044	0.0043	0.0044	0.0045	0.0252	0.0043	0.0043	0.0237	0.0231	0.0252	0.0032	0.0032	0.0006	0.0078	0.0028	0.0038	0.0052	0.0060	0.0094	0.0094	0.0096	0.0092	0.0235	0.0090	0.0088	0.0223	0.0218	0.0235	0	0.0058	0.0040	0.0008	0.0042	0.0068	0.0036	0.0147	0.0052	0.015	0.52492	D	0.193	0.28210	T	0.024	0.19075	B	0.018	0.18489	B	0.031997	0.25092	N	0.392854	0.992276	0.23908	N	0.69	0.16971	N	-2.9	0.91643	D	0.14	0.05405	N	0.238	0.26837	-0.6285	0.63635	T	0.317	0.68682	T	10	0.0057828426	0.00129	T	.	.	.	0.221	0.51721	.	.	0.598325952365	0.59513	0.5786849918005884	0.57797	0.999121115232	0.74354	0.786996901035	0.79985	T	0.53164	0.83803	D	-0.430026	0.01482	T	-0.367481	0.37182	T	0.00941826383111213	0.00121	T	0.487551	0.14930	T	0.078998126	0.18022	0.109930314	0.26499	0.078998126	0.18022	0.109930314	0.26499	-5.574	0.42554	T	.	.	0.094	0.14614	B	.	.	2.455609	0.31623	18.80	0.97524452009215323	0.34421	0.49883	0.28535	N	AEFDBHCI	0.152712	0.27744	N	-0.450865867955829	0.23711	1.275199	-0.328608669544254	0.27179	1.506335	0.991196388752651	0.32405	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.68	2.78	0.31702	0.961000	0.28864	2.833000	0.35033	0.502000	0.22824	0.695000	0.28578	0.995000	0.32472	0.002000	0.04165	0.1657:0.5996:0.1422:0.0925	4.480	0.11175	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2105.11	78	chr13	27924565	.	C	A	2105.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.65;DP=842;ExcessHet=0.1072;FS=1.444;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-4.700e-02;SOR=0.872	GT:AD:DP:GQ:PL	0/1:40,38:78:99:1262,0,1002	19	0	2	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	0/1:84,40:134:61:61,0,1665	6	0	15	0
chr13	39039232	39039232	G	A	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001012754:exon2:c.G181A:p.G61R	.	.	.	.	.	.	.	.	.	.	.	2238356	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.9	M	0.94	T	0.910	D	0.868	D	0.938	4.254	22.2	5.29	2.457	8.606	17.932	0.730	0.17438753893	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007107832	7.526e-06	8.209e-06	6.807e-06	8.251e-06	8.994e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.72154	T	0.003	0.76473	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999974	0.81001	D	2.865	0.83145	M	0.94	0.90735	T	-5.13	0.83224	D	0.915	0.91736	0.910	0.95813	D	0.868	0.95600	D	9	0.851086	0.84287	D	0.174388	0.85079	D	0.730	0.90545	0.502	0.59460	0.985302744461	0.98514	0.8556474447721614	0.85527	0.467012440745	0.46087	0.638010442257	0.58281	T	0.078679	0.35949	T	0.463147	0.93060	D	0.427502	0.92973	D	0.991421639919281	0.81718	D	0.925307	0.81505	D	0.51133674	0.67757	0.5066649	0.71487	0.51133674	0.67758	0.5066649	0.71488	-7.918	0.60510	D	.	.	0.802	0.83424	P	.;.	.;.	5.498171	0.91554	32	0.99933205921838952	0.99488	0.95026	0.63168	D	ALL	0.935213	0.92975	D	0.755008839762964	0.83230	7.963451	0.67901189906514	0.80789	7.377434	0.999999999999999	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.665054	0.64577	0	.	.	5.29	5.29	0.74430	8.759000	0.91344	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.161000	0.20682	0.0:0.0:1.0:0.0	17.932	0.88918	869	0.31655	.;.	.	.	.	.	.	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	837.98	68	chr13	39039232	.	G	A	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.338;DP=793;ExcessHet=0.0000;FS=0.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-3.440e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,36:68:99:852,0,692	20	0	1	0
chr13	39047804	39047804	G	A	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001017370:exon6:c.G721A:p.V241I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982	D	0.505	P	0.000	D	0.724	D	2.005	M	-2.63	D	0.599	D	0.689	D	0.299	3.406	17.50	5.46	2.721	4.030	12.013	0.359	0.0403635154303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.42487	T	0.197	0.44702	T	0.709	0.42056	P	0.254	0.39164	B	0.000014	0.62929	D	0.112351	0.723525	0.33642	D	2.34	0.67151	M	-2.63	0.90083	D	-0.62	0.18248	N	0.109	0.10056	0.599	0.91886	D	0.689	0.89265	D	9	0.22368947	0.39154	T	0.040364	0.59336	D	0.359	0.67962	0.426	0.47185	0.889172268611	0.88808	0.26785127492099353	0.26698	0.0981725950448	0.11081	0.324926793575	0.14167	T	0.002937	0.02330	T	0.0563497	0.59154	T	-0.156834	0.58636	T	0.822085797786713	0.47927	D	0.846715	0.52677	T	0.03929498	0.05398	0.061104063	0.11745	0.03929498	0.05398	0.061104063	0.11744	-4.837	0.35019	T	.	.	0.109	0.21428	B	.;.;.	.;.;.	2.744878	0.35961	20.1	0.99608847036585391	0.74694	0.87870	0.47561	D	ALL	0.398870	0.47437	N	0.308062512820643	0.56562	3.821038	0.319670737389233	0.56698	3.833401	0.99999999999903	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.699908	0.69081	0	.	.	5.46	5.46	0.80021	4.332000	0.59063	9.954000	0.82748	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0881:0.0:0.9119:0.0	12.013	0.52590	884	0.28482	.;.;.	.	.	.	.	.	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	1730.98	144	chr13	39047804	.	G	A	1730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.812;DP=840;ExcessHet=0.0000;FS=6.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.219e+00;SOR=1.158	GT:AD:DP:GQ:PL	0/1:73,71:144:99:1745,0,1768	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|1:85,38:123:99:0|1:42303097_G_C:360,0,1857:42303097	0	0	20	1
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	0/1:102,38:151:6:6,0,1614	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	0/1:24,15,0:39:99:.:.:558,0,962,630,1008,1638	15	0	2	0
chr13	95887914	95887914	G	A	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon26:c.C3016T:p.L1006F,	.	.	445	1073	3	1	0	5	0.0023245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	1.0	D	0.000	D	1.000	D	3.275	M	1.36	T	-0.461	T	0.283	T	0.901	3.454	17.70	5.59	2.612	3.116	12.871	0.361	0.0280793600628	0.0003	0.000399361	0.0008	9.701e-05	0.0004	0	0.0005	0.0012	0	6.067e-05	0.0007244	112	154602	rs141853446	0.0006	0.0007	0.0006	0.0006	0.0023	0.0006	0.0006	0.0014	0.0011	0.0001	0.0005	0.0009	0	0.0015	0.0023	0.0006	0.0006	8.398e-05	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	4.816e-05	0	0.0004	0.0006	0	0.0008	0	0.0010	0.0005	0.0002	0.163	0.23450	T	0.203	0.27325	T	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	3.705	0.94653	H	1.36	0.34452	T	-2.6	0.55983	D	0.822	0.81758	-0.4609	0.70037	T	0.283	0.65537	T	10	0.25013167	0.42335	T	0.028079	0.50806	D	0.361	0.68141	.	.	0.430808444494	0.42699	0.5904206122860818	0.58972	0.370996648256	0.38603	0.515715539455	0.41023	T	0.078003	0.35790	T	-0.0577358	0.43260	T	0.0987383	0.76824	D	0.164848393350054	0.18223	T	0.945605	0.79272	D	0.3399735	0.56278	0.26629084	0.52472	0.3399735	0.56278	0.26629084	0.52471	-7.559	0.58024	D	.	.	0.183	0.39647	B	.	.	4.460969	0.69433	25.4	0.99876724398169625	0.95328	0.94255	0.60587	D	AEFBI	0.562735	0.57021	D	0.801486621947207	0.86198	8.809319	0.740196990716399	0.85425	8.576072	0.963643064935643	0.28705	0.651	0.46895	0	0.601575	0.49859	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.59	5.59	0.84677	3.162000	0.50454	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0745:0.0:0.9255:0.0	12.871	0.57351	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1899.98	165	chr13	95887914	.	G	A	1899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.780e-01;DP=2619;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.430;SOR=0.690	GT:AD:DP:GQ:PL	0/1:85,80:165:99:1914,0,2106	20	0	1	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	0/1:110,42:159:99:208,0,2545	8	0	10	3
chr13	103065903	103065903	G	A	exonic	SLC10A2	.	nonsynonymous SNV	SLC10A2:NM_000452:exon1:c.C347T:p.A116V,	Bile acid malabsorption, primary, Autosomal recessive	.	2	1517	3	0	0	3	0.000987817	.	.	587007	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.218	B	0.386	B	0.000	D	0.954	D	1.68	L	2.71	T	-1.068	T	0.064	T	0.497	4.136	21.3	5.25	2.451	4.340	18.848	0.118	0.00937433452292	.	.	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs201133082	7.798e-05	7.867e-05	8.031e-05	7.563e-05	0.0002	6.6e-05	6.142e-05	7.509e-05	7e-05	0	8.944e-05	0	0	0	0.0002	8.993e-05	0.0001	0	9.204e-05	9.194e-05	6.425e-05	0.0001	0.0001	5.53e-05	4.367e-05	7.909e-05	5.995e-05	2.415e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.148	0.24857	T	0.014	0.62352	D	0.218	0.30213	B	0.386	0.44011	B	0.000004	0.62929	D	0.109014	0.954412	0.37876	D	1.32	0.33002	L	2.71	0.12055	T	-1.21	0.30762	N	0.341	0.38232	-1.0681	0.09836	T	0.064	0.26349	T	10	0.2639717	0.43881	T	0.009374	0.24577	T	0.118	0.32913	.	.	0.412715890961	0.40891	0.9606908300031071	0.96055	0.00748993395039	0.00659	0.589894115925	0.51479	T	0.107249	0.41929	T	-0.322468	0.06697	T	-0.441301	0.28663	T	0.150984638085202	0.17181	T	0.861714	0.55578	D	0.35305458	0.57303	0.3582552	0.61305	0.35305458	0.57303	0.3582552	0.61304	-8.897	0.67031	D	0.20046229666378013	0.26605	0.439	0.61669	A	.	.	3.697996	0.52727	23.3	0.99903418355282936	0.97502	0.93604	0.58673	D	AEFGBI	0.695617	0.65423	D	0.248855893032705	0.53582	3.526471	0.357611760761882	0.58967	4.070846	0.999999972075694	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.244000	0.65222	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	18.848	0.92184	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	681.98	37	chr13	103065903	.	G	A	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=722;ExcessHet=0.0000;FS=3.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.43;ReadPosRankSum=2.27;SOR=1.528	GT:AD:DP:GQ:PL	0/1:14,23:37:99:696,0,375	20	0	1	0
chr13	110457058	110457058	G	T	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon5:c.C667A:p.P223T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.013	T	0.089	T	0.064	1.399	10.61	1.2	0.513	1.129	8.267	0.081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	33.71	23	chr13	110457058	.	G	T	33.71	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.259;DP=541;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0473;MLEAC=1;MLEAF=0.025;MQ=49.57;MQRankSum=-2.624e+00;QD=1.47;ReadPosRankSum=-1.280e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,3:23:47:0|1:110457020_G_C:47,0,706:110457020	19	0	1	1
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|1:110,103,0:213:99:0|1:112547505_C_T:3865,0,4248,4196,4558,8754:112547505	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	1|4:0,76,0,0,106,0:182:99:1|0:112547505_C_T:7190,4233,4081,7324,4367,8021,7324,4367,8021,8021,3012,0,3787,3787,4130,7324,4367,8021,8021,3787,8021:112547505	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	1|4:0,76,0,0,106,0:182:99:1|0:112547505_C_T:7190,4233,4081,7324,4367,8021,7324,4367,8021,8021,3012,0,3787,3787,4130,7324,4367,8021,8021,3787,8021:112547505	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	1|4:0,76,0,0,106,0:182:99:1|0:112547505_C_T:7190,4233,4081,7324,4367,8021,7324,4367,8021,8021,3012,0,3787,3787,4130,7324,4367,8021,8021,3787,8021:112547505	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|1:89,96,0:185:99:0|1:112547505_C_T:3573,0,3350,3841,3638,7479:112547505	13	0	7	0
chr13	113044858	113044858	C	G	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon1:c.C134G:p.T45R	.	.	429	1080	11	2	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.111	B	0.02	B	.	.	1.000	N	.	.	1.24	T	-1.019	T	0.051	T	0.058	-0.082	3.600	-0.89	-0.038	-2.654	2.711	0.025	0.00253447750239	.	0.00119808	0.0013	0	0.0006	0	0	0.0005	0	0.0066	0.0010414	161	154602	rs200111582	0.0006	0.0006	0.0004	0.0008	0.0068	0.0006	0.0005	0.0063	0.0061	2.987e-05	0.0006	0.0035	2.519e-05	0.0002	0.0033	7.645e-05	0.0008	0.0068	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	7.216e-05	0	0.0004	0.0029	0	9.42e-05	0	0.0001	0.0005	0.0054	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-1.27	0.36189	N	0.18	0.19459	-1.0190	0.24041	T	0.051	0.21533	T	8	0.0039972663	0.00077	T	0.002534	0.05065	T	0.025	0.05312	0.16	0.06396	0.179529687257	0.17594	.	.	.	.	.	.	.	.	.	.	-0.658608	0.00064	T	-0.715654	0.05008	T	0.00932054833725134	0.00119	T	0.39556	0.09932	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11510	B	.;.	.;.	-0.163453	0.03281	0.563	0.40551858735703439	0.02869	0.04407	0.09994	N	AEFDGBCI	0.107016	0.21334	N	-1.16372843866563	0.05558	0.253669	-1.27815412306527	0.04727	0.2236351	0.999999745764187	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.28	-0.89	0.10041	-2.486000	0.01054	-2.921000	0.03228	-0.929000	0.02155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2084:0.4165:0.0:0.3751	2.711	0.04855	994	0.00715	.;CRAL-TRIO lipid binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1160.98	105	chr13	113044858	.	C	G	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=805;ExcessHet=0.0000;FS=2.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-1.809e+00;SOR=1.038	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1175,0,1267	20	0	1	0
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,30,0:97:99:.:.:779,0,1679,976,1769,2746	4	5	6	3
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.006	B	0.609	N	0.995	N	0.665	N	1.46	T	-0.921	T	0.248	T	0.01	-0.068	3.670	1.66	0.528	0.460	3.160	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	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	0.06667	91.67	58	chr13	114301925	.	G	A	91.67	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.081e+00;DP=1079;ExcessHet=0.1128;FS=235.703;InbreedingCoeff=-0.1606;MLEAC=3;MLEAF=0.100;MQ=53.56;MQRankSum=-4.630e-01;QD=0.76;ReadPosRankSum=0.970;SOR=8.349	GT:AD:DP:GQ:PL	0/1:41,17:58:63:63,0,771	13	0	2	6
chr14	19414588	19414588	C	T	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon8:c.G1216A:p.E406K,	.	.	470	1049	3	0	0	3	0.00142789	.	.	2386392	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.963	D	0.63	P	.	.	1.000	N	0.695	N	1.86	T	-1.060	T	0.049	T	0.196	1.686	11.60	0.993	0.847	1.401	5.373	0.031	0.00161812013841	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs574058720	9.685e-05	0.0002	8.391e-05	0.0001	0.0007	8.335e-05	7.87e-05	0.0004	0.0003	3.024e-05	0.0001	0.0009	0	1.894e-05	0.0007	5.161e-05	0.0001	0.0005	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	2.443e-05	0	0.0003	0.0006	0	0	0	0.0003	0	0.0007	0.007	0.59928	D	0.299	0.20422	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.86	0.24285	T	-0.78	0.21644	N	0.239	0.26957	-1.0598	0.11805	T	0.049	0.20711	T	8	0.14332548	0.27212	T	0.001618	0.02625	T	.	.	0.36	0.36385	0.0675242888579	0.06100	0.022518106362677873	0.02203	.	.	0.765689849854	0.76778	T	0.003777	0.03181	T	-0.224203	0.17424	T	-0.559829	0.16392	T	0.451883063440089	0.30866	T	0.817418	0.47426	T	0.03920125	0.05369	0.10928685	0.26337	0.03920125	0.05368	0.10928685	0.26336	-4.775	0.34298	T	.	.	0.087	0.10979	B	.	.	2.053941	0.26112	17.00	0.98349638868434719	0.40527	0.02644	0.07246	N	AEFI	0.038442	0.05440	N	-0.583202055116734	0.19454	1.018347	-0.799017032418183	0.14519	0.7590402	1.96308778356445E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	1.547000	0.35798	-1.189000	0.06074	0.284000	0.18682	0.073000	0.22155	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	5.373	0.15451	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	89.98	381	chr14	19414588	.	C	T	89.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=1107;ExcessHet=0.0000;FS=0.611;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.94;MQRankSum=-4.375e+00;QD=0.24;ReadPosRankSum=0.812;SOR=0.791	GT:AD:DP:GQ:PL	0/1:338,43:381:99:104,0,8245	20	0	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N,	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.001	B	0.423	N	1.000	N	1.1	L	0.94	T	-1.051	T	0.073	T	0.014	1.757	11.83	-1.21	-0.365	-0.497	5.105	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	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	0.1111	147.34	118	chr14	20747837	.	G	A	147.34	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.194e+00;DP=1717;ExcessHet=0.6776;FS=228.147;InbreedingCoeff=-0.1516;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=-1.130e-01;SOR=10.330	GT:AD:DP:GQ:PL	0/1:80,29:118:62:62,0,1482	14	0	4	3
chr14	20992611	20992611	G	T	exonic	METTL17	.	nonsynonymous SNV	METTL17:NM_001029991:exon5:c.G517T:p.A173S	.	.	428	1088	5	1	0	7	0.0032066	.	.	2810239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.998	D	0.975	D	0.001	D	0.991	D	1.265	L	1.58	T	-1.081	T	0.100	T	0.343	4.489	24.1	5.86	2.777	5.923	15.680	0.196	.	0.0087	0.00259585	0.0068	0.0013	0.0015	0	0.0060	0.0106	0.0044	0.0025	0.0068304	1056	154602	rs72661115	0.0087	0.0087	0.0088	0.0085	0.0095	0.0085	0.0085	0.0093	0.0092	0.0011	0.0027	0.0324	2.519e-05	0.0043	0.0082	0.0095	0.0093	0.0034	0.0061	0.0061	0.0061	0.0062	0.0087	0.0058	0.0057	0.0081	0.0079	0.0018	0	0.0060	0.0277	0	0.0049	0	0.0087	0.0080	0.0023	0.059	0.46513	T	0.0	0.92824	D	0.997	0.73220	D	0.975	0.73362	D	0.000525	0.43581	D	0.196755	0.990717	0.41220	D	2.505	0.72935	M	1.58	0.29085	T	-1.67	0.43717	N	0.667	0.71321	-1.0814	0.07079	T	0.100	0.37265	T	10	0.0094872415	0.00214	T	.	.	.	0.196	0.47777	.	.	0.494974121195	0.49132	0.6553535461088523	0.65471	0.930430797109	0.71797	0.510615229607	0.40309	T	0.012617	0.34994	T	-0.434261	0.01398	T	-0.382936	0.35379	T	0.0229749622754267	0.01020	T	0.858914	0.54988	D	0.22828962	0.45546	0.25883728	0.51623	0.22828962	0.45546	0.25883728	0.51622	-8.683	0.65635	D	.	.	0.162	0.45690	B	.;.;.;.;.;.	.;.;.;.;.;.	4.711405	0.75686	26.4	0.99680613760629033	0.79241	0.96914	0.71630	D	AEFBI	0.701492	0.65816	D	0.673512226001316	0.77896	6.764082	0.709554150904392	0.83103	7.93506	0.999999915336645	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	5.490000	0.66601	9.916000	0.82466	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	15.680	0.77120	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1375.98	107	chr14	20992611	.	G	T	1375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=833;ExcessHet=0.0000;FS=7.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.879;SOR=1.429	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1390,0,1206	20	0	1	0
chr14	21078422	21078422	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon10:c.G38A:p.R13Q	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.996	D	0.927	D	0.012	N	0.767	N	1.03	L	4.06	T	-1.054	T	0.019	T	0.463	3.198	16.71	3.55	1.066	2.551	10.085	0.064	0.00595788321693	7.7e-05	.	6.001e-05	9.921e-05	0	0.0002	0	6.154e-05	0	0	4.53e-05	7	154602	rs143591705	1.508e-05	1.71e-05	1.227e-05	1.791e-05	0.0007	9.87e-06	8.43e-06	0.0002	0.0001	0	0	0	2.52e-05	0	0.0007	1.081e-05	8.292e-05	0	3.943e-05	3.94e-05	3.854e-05	4.036e-05	0.0004	1.716e-05	1.13e-05	6.823e-05	2.855e-05	7.239e-05	0	0	0	0.0004	0	0	1.47e-05	0	0	0.151	0.24564	T	0.0	0.92824	D	0.994	0.66517	D	0.921	0.65636	D	0.011501	0.29512	N	0.161249	0.766929	0.29479	N	2.015	0.55033	M	4.06	0.03063	T	-1.43	0.35194	N	0.245	0.27673	-1.0541	0.13278	T	0.019	0.07986	T	10	0.17379004	0.32224	T	0.005958	0.15549	T	0.064	0.18567	.	.	0.44307954383	0.43928	0.20264851144894885	0.20181	0.27892697211	0.30372	0.400300204754	0.25110	T	0.022031	0.17054	T	-0.284398	0.10207	T	-0.420592	0.31008	T	0.205483470869028	0.20715	T	0.909909	0.68110	D	0.09716426	0.22898	0.091275536	0.21450	0.09716426	0.22897	0.091275536	0.21450	-4.486	0.30705	T	.	.	0.109	0.20896	B	.	.	4.389832	0.67742	25.1	0.99928323413200615	0.99222	0.81667	0.41025	D	AEFDBI	0.267596	0.38427	N	0.227091905038795	0.52515	3.425232	0.21866162991018	0.50882	3.275816	0.961305054390409	0.28545	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.604944	0.38103	0	.	.	4.47	3.55	0.39770	2.419000	0.44325	8.736000	0.78194	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.2041:0.7959:0.0	10.085	0.41583	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	1354.98	111	chr14	21078422	.	G	A	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=857;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.056;SOR=0.808	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1369,0,1449	20	0	1	0
chr14	23534962	23534962	C	T	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon2:c.G364A:p.A122T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.007	U	0.861	N	0.975	L	-1.61	D	-0.266	T	0.437	T	0.465	2.590	14.62	3.74	2.414	2.794	10.515	0.420	0.142557076801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.007218	0.31533	U	0.000000	0.861328	0.28351	N	1.935	0.51832	L	-1.61	0.82254	D	-3.33	0.74051	D	0.22	0.39558	-0.2656	0.75934	T	0.437	0.77650	T	8	0.3640148	0.52957	T	0.142557	0.82493	D	0.420	0.72930	0.278	0.23164	0.4018988957	0.39804	0.17034001207389218	0.16954	.	.	0.420418977737	0.27894	T	0.097635	0.40065	T	0.0832664	0.62420	D	-0.11817	0.61951	T	0.961801648139954	0.66186	D	0.680032	0.29288	T	0.37331483	0.58829	0.502965	0.71268	0.37331483	0.58829	0.502965	0.71269	-3.81	0.20954	T	.	.	0.403	0.63013	A	.;.;.;.	.;.;.;.	3.447179	0.47979	22.5	0.99404564776103366	0.62981	0.91808	0.54307	D	AEFDBI	0.314843	0.41959	N	0.227960076226766	0.52558	3.429227	0.293603142836309	0.55166	3.679857	0.999824765289991	0.43622	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	4.65	3.74	0.42108	2.994000	0.49121	4.923000	0.46060	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.997000	0.79791	0.0:0.9047:0.0:0.0953	10.515	0.44070	517	0.74620	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2885.98	202	chr14	23534962	.	C	T	2885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-2.566e+00;SOR=0.692	GT:AD:DP:GQ:PL	0/1:95,107:202:99:2900,0,2257	20	0	1	0
chr14	49621367	49621367	G	T	exonic	MGAT2	.	nonsynonymous SNV	MGAT2:NM_002408:exon1:c.G99T:p.K33N,	Congenital disorder of glycosylation, type IIa, Autosomal recessive	.	1	1490	29	2	0	33	0.0109525	.	.	215480	not_provided|not_specified|Inborn_genetic_diseases|MGAT2-congenital_disorder_of_glycosylation|MGAT2-related_disorder	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008908,MedGen:C2931008,OMIM:212066,Orphanet:79329|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.965	D	0.445	B	0.000	D	0.998	D	1.04	L	-2.59	D	-0.063	T	0.524	D	0.257	3.859	19.60	4.06	0.844	2.765	9.356	0.373	0.544958027461	0.0015	0.000798722	0.0017	0.0002	0.0009	0.0001	0	0.0024	0.0037	0.0014	0.001533	237	154602	rs140584714	0.0017	0.0017	0.0017	0.0018	0.0071	0.0017	0.0017	0.0054	0.0048	5.981e-05	0.0018	0.0010	0	5.761e-05	0.0071	0.0019	0.0020	0.0018	0.0014	0.0014	0.0014	0.0015	0.0022	0.0013	0.0012	0.0020	0.0018	0.0003	0	0.0020	0.0006	0	0	0.0034	0.0022	0.0047	0.0014	0.0	0.91255	D	0.156	0.31833	T	0.965	0.56013	D	0.445	0.45921	B	0.000001	0.84330	D	0.053342	0.997754	0.44161	D	2.125	0.59049	M	-2.59	0.89822	D	-0.89	0.24026	N	0.282	0.31925	-0.0634	0.80921	T	0.524	0.82254	D	10	0.012802005	0.00274	T	0.544958	0.95779	D	0.373	0.69188	0.245	0.17984	0.725540115838	0.72311	0.6578675173053016	0.65723	0.733321655826	0.62832	0.880674540997	0.94051	D	0.192977	0.54829	T	-0.245732	0.14626	T	-0.131301	0.60863	T	0.119549588557019	0.14386	T	0.577942	0.20808	T	0.5429809	0.69563	0.49862787	0.71010	0.57498664	0.71335	0.57763696	0.75527	-3.435	0.15532	T	.	.	0.400	0.59555	A	.	.	3.639591	0.51593	23.1	0.99432648031156978	0.64325	0.85203	0.44315	D	AEFDGBHCI	0.487210	0.52605	N	0.244218681711827	0.53353	3.504599	0.293544181337501	0.55160	3.679517	0.999999999999648	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.88	4.06	0.46572	2.407000	0.44219	7.441000	0.58873	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2222:0.0:0.7778:0.0	9.356	0.37327	828	0.39726	.	.	.	.	.	.	Uncertain significance	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	1	0	0.02381	1451.98	126	chr14	49621367	.	G	T	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=836;ExcessHet=0.0000;FS=4.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.875;SOR=1.085	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1466,0,1714	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	0/1:44,23:67:99:115,0,749	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	0/1:75,38:113:99:.:.:137,0,1440	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	1/1:0,10,0:10:30:428,30,0,428,30,428	0	19	0	0
chr14	73946602	73946602	A	G	exonic	FAM161B	.	nonsynonymous SNV	FAM161B:NM_152445:exon2:c.T58C:p.F20L,	.	.	432	1088	2	0	0	2	0.000918274	.	.	2337121	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.78	P	0.265	B	0.094	N	1.000	N	1.7	L	1.53	T	-1.004	T	0.067	T	0.53	1.932	12.42	3.9	2.137	2.154	9.034	0.155	0.00915731904087	7.7e-05	.	0.0001	0	0	0	0	0.0001	0	0.0003	9.06e-05	14	154602	rs200537390	4.524e-05	4.515e-05	3.544e-05	5.514e-05	0.0005	3.648e-05	3.328e-05	0.0002	0.0002	0	0	0	0	0	0.0005	2.523e-05	0.0001	0.0003	3.942e-05	3.94e-05	2.569e-05	5.38e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0006	0.007	0.59928	D	0.0	0.92824	D	.	.	.	.	.	.	0.093581	0.20216	N	0.435717	1	0.08975	N	.	.	.	1.53	0.30401	T	-1.1	0.28497	N	0.28	0.31702	-1.0035	0.28903	T	0.067	0.27708	T	10	0.09653002	0.17322	T	0.009157	0.24083	T	0.155	0.40530	.	.	0.124217242631	0.12060	.	.	0.0819361189271	0.09225	0.595755815506	0.52305	T	.	.	.	-0.31989	0.06906	T	-0.386758	0.34931	T	0.074850592481707	0.09315	T	0.560744	0.19617	T	.	.	.	.	.	.	.	.	-2.156	0.03832	T	.	.	.	.	.	.	.	2.286705	0.29245	18.06	0.98853715880360249	0.47339	0.47622	0.28024	N	AEFDBCI	0.232601	0.35565	N	-0.0573335746698105	0.39275	2.31348	-0.109088406178637	0.35023	2.021334	0.999993429337024	0.74766	0.615465	0.37627	0	0.541556	0.11502	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.1	3.9	0.44240	2.129000	0.41677	4.681000	0.44321	0.756000	0.94297	0.974000	0.34632	0.999000	0.35428	0.014000	0.10232	0.8153:0.1847:0.0:0.0	9.034	0.35440	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	769.98	64	chr14	73946602	.	A	G	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.918e+00;DP=800;ExcessHet=0.0000;FS=0.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.592;SOR=0.520	GT:AD:DP:GQ:PL	0/1:34,30:64:99:784,0,1023	20	0	1	0
chr14	74290035	74290035	G	A	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353604:exon10:c.C622T:p.R208W	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	373897	Methylmalonic_acidemia_with_homocystinuria,_type_cblJ|not_provided	MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.982	D	0.000	D	1.000	D	2.635	M	-3.47	D	1.000	D	0.907	D	0.889	4.459	23.8	5.76	2.728	2.946	14.758	0.890	0.193410581935	0.0012	0.00139776	0.0017	0.0007	0.0024	0	0.0014	0.0021	0.0022	0.0010	0.0017205	266	154602	rs45568335	0.0019	0.0019	0.0020	0.0019	0.0071	0.0019	0.0019	0.0054	0.0048	0.0006	0.0016	0.0024	0	0.0008	0.0071	0.0022	0.0017	0.0008	0.0016	0.0016	0.0015	0.0017	0.0026	0.0015	0.0014	0.0020	0.0019	0.0007	0	0.0026	0.0026	0	0.0007	0	0.0023	0.0028	0.0010	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.954	0.69447	D	0.000001	0.62929	D	0.055789	1	0.81001	D	2.845	0.82663	M	-3.47	0.94546	D	-5.47	0.85617	D	0.965	0.97535	1.000	0.97196	D	0.907	0.96912	D	10	0.19610003	0.35488	T	0.193411	0.86302	D	0.890	0.96836	.	.	0.9939230384	0.99385	0.930420801775516	0.93021	0.899938450142	0.70603	0.841408610344	0.88309	D	0.618414	0.88005	D	0.143536	0.68660	D	0.428477	0.93001	D	0.0396660110126401	0.03630	T	0.937606	0.76517	D	0.7190192	0.79107	0.63535464	0.78713	0.7190192	0.79108	0.63535464	0.78714	-11.764	0.83682	D	.	.	0.652	0.71014	P	.	.	5.983850	0.94259	34	0.99918734954961996	0.98586	0.92838	0.56669	D	AEFBCI	0.781768	0.71325	D	0.738243510302671	0.82136	7.689078	0.712105214964422	0.83298	7.985194	0.999999747318183	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	3.030000	0.49407	11.495000	0.92942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8555:0.1445	14.758	0.69203	495	0.76383	ABC transporter-like|ABC transporter-like|AAA+ ATPase 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	1506.98	96	chr14	74290035	.	G	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.050e-01;DP=836;ExcessHet=0.0000;FS=2.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=0.655;SOR=0.412	GT:AD:DP:GQ:PL	0/1:35,61:96:99:1521,0,730	20	0	1	0
chr14	74356998	74356998	G	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.G215A:p.R72Q,	.	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.033	B	0.003	B	0.223	N	1.000	N	0.345	N	0.95	T	-1.049	T	0.042	T	0.193	1.363	10.48	1.82	0.647	0.423	9.583	0.018	0.00777356287819	0.0015	0.00139776	0.0022	0.0004	0.0029	0	0.0015	0.0022	0.0022	0.0043	0.0021216	328	154602	rs45593432	0.0024	0.0024	0.0023	0.0024	0.0110	0.0023	0.0023	0.0088	0.0080	0.0004	0.0023	0.0017	0	0.0011	0.0110	0.0025	0.0022	0.0037	0.0020	0.0020	0.0018	0.0022	0.0037	0.0018	0.0018	0.0024	0.0023	0.0006	0	0.0031	0.0026	0	0.0010	0.0034	0.0027	0.0038	0.0037	0.139	0.25768	T	0.171	0.30339	T	0.033	0.20350	B	0.003	0.08700	B	0.222855	0.16098	N	0.565703	1	0.08975	N	0.345	0.11182	N	0.93	0.44065	T	-1.66	0.39692	N	0.081	0.05670	-1.0490	0.14677	T	0.042	0.17910	T	10	0.006282538	0.00142	T	0.007774	0.20616	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.4145049700076509	0.41366	0.508805914632	0.49028	0.281761646271	0.07739	T	0.030668	0.21687	T	-0.558419	0.00259	T	-0.57464	0.15027	T	0.00794116350985431	0.00094	T	0.778122	0.45098	T	0.07385919	0.16535	0.04743518	0.06833	0.07385919	0.16535	0.04743518	0.06833	-4.319	0.28442	T	.	.	0.068	0.02639	B	.;.	.;.	1.297111	0.16988	12.89	0.99395072349976021	0.62519	0.17632	0.19921	N	AEFDBCI	0.119875	0.23378	N	-0.649216657548677	0.17483	0.9000355	-0.551358041754906	0.20770	1.120566	0.974554831129864	0.29553	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.91	1.82	0.24209	0.452000	0.21508	0.449000	0.18503	0.676000	0.76740	0.115000	0.23085	0.005000	0.19230	0.511000	0.29267	0.2597:0.0:0.7403:0.0	9.583	0.38662	269	0.89438	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2564.11	90	chr14	74356998	.	G	A	2564.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.78;DP=1015;ExcessHet=0.1072;FS=2.435;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=2.08;SOR=0.534	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1160,0,1194	19	0	2	0
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E,	.	.	419	1038	61	4	0	69	0.0321678	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.156	N	1.000	N	0	N	1.02	T	-0.997	T	0.020	T	0.006	-3.049	0.001	-6.98	-1.897	-2.987	3.018	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	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	4734.68	78	chr14	74358253	.	C	A	4734.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.82;DP=974;ExcessHet=0.3300;FS=4.375;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.449;SOR=0.941	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1465,0,790	18	0	3	0
chr14	74522792	74522792	G	T	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon16:c.C2657A:p.T886K,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	0.0005	0.13	330544	Weill-Marchesani_syndrome|not_provided|Glaucoma_3,_primary_congenital,_D	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.73	T	0.99	D	0.856	P	0.001	D	0.836	N	1.04	L	-2.24	D	-0.325	T	0.534	D	0.397	1.997	12.63	2.88	1.233	1.439	6.997	0.424	0.279226258854	0.0002	0.000798722	0.0007	0	0	0.0033	0.0017	0.0003	0	0.0014	0.0004981	77	154602	rs201591982	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0026	0.0024	0	2.251e-05	0.0003	0.0031	0.0015	0.0003	7.473e-05	0.0003	0.0010	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	0	0	0	0	0.0029	0.0012	0	0.0001	0.0009	0.0002	0.03	0.52492	D	0.047	0.51421	D	0.99	0.63424	D	0.856	0.61001	P	0.000586	0.43095	D	0.000000	0.836101	0.28694	N	2.67	0.78151	M	-2.24	0.87194	D	-2.54	0.55025	D	0.458	0.52029	-0.3246	0.74293	T	0.534	0.82723	D	10	0.03479466	0.01701	T	0.279226	0.90170	D	0.424	0.73226	.	.	0.786729234469	0.78475	0.6533797712812953	0.65273	0.274175235635	0.29914	0.357838898897	0.19069	T	0.649466	0.89345	D	-0.249031	0.14216	T	-0.13417	0.60620	T	0.0894411780022124	0.11151	T	0.814119	0.46793	T	0.10528326	0.24892	0.13597353	0.32540	0.096389316	0.22701	0.12062933	0.29109	-9.822	0.72839	D	.	.	0.153	0.36673	B	.;.	.;.	2.676178	0.34902	19.75	0.98323305867597255	0.40261	0.82143	0.41416	D	AEFGBI	0.231894	0.35505	N	-0.178824538756587	0.34018	1.93664	-0.228493056473406	0.30520	1.719115	0.99933199887213	0.39185	0.67177	0.52595	0	0.59043	0.45803	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	4.75	2.88	0.32617	2.460000	0.44689	2.835000	0.35045	-0.113000	0.14837	0.989000	0.36753	0.999000	0.35428	0.117000	0.19042	0.2749:0.0:0.7251:0.0	6.997	0.23965	258	0.89879	EGF-like domain|EGF-like calcium-binding domain|EGF-like 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	0	0	0	0	0	0	0	0.02381	1152.98	96	chr14	74522792	.	G	T	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=862;ExcessHet=0.0000;FS=0.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.830e-01;SOR=0.857	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1167,0,1241	20	0	1	0
chr14	74611657	74611657	C	G	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon1:c.G288C:p.R96S,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2737861	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.008	B	0.005	B	0.034	N	1.000	N	0.805	L	-1.16	T	-0.993	T	0.203	T	0.207	-0.698	0.978	1.03	0.130	0.612	5.025	0.084	0.202891538817	.	0.000199681	0.0005	0	0	0	0	6.291e-05	0	0.0014	0.0001164	18	154602	rs572393494	5.193e-05	5.13e-05	2.816e-05	7.62e-05	0.0009	4.221e-05	3.883e-05	0.0007	0.0006	0	0	0	2.677e-05	0	0	0	3.418e-05	0.0009	1.314e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.15	0.24661	T	0.125	0.35330	T	0.008	0.14655	B	0.005	0.11217	B	0.033589	0.24878	N	0.194502	1	0.08975	N	2.095	0.58118	M	-1.16	0.78199	T	-0.55	0.16799	N	0.177	0.19728	-0.9927	0.31906	T	0.203	0.56073	T	10	0.025431514	0.00737	T	0.202892	0.86846	D	0.084	0.24469	0.257	0.19845	0.633161336507	0.63015	0.4809600713537888	0.48016	0.658674614021	0.58763	0.780375123024	0.78984	T	0.159189	0.50252	T	-0.365813	0.03812	T	-0.348682	0.39356	T	0.0709181512221474	0.08780	T	0.680532	0.28920	T	0.14409654	0.33089	0.140207	0.33428	0.14409654	0.33089	0.140207	0.33427	-4.322	0.28484	T	.	.	0.154	0.37501	B	.;.	.;.	2.372955	0.30450	18.44	0.81315838309881738	0.13625	0.28637	0.23608	N	AEFDGBHCI	0.106695	0.21280	N	-0.780286179362904	0.13824	0.6838868	-0.730088409198932	0.16213	0.8566203	0.999987545888192	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	3.09	1.03	0.19161	0.742000	0.25884	0.650000	0.20403	0.524000	0.24156	0.959000	0.33545	0.999000	0.35428	0.534000	0.29800	0.0:0.4516:0.4115:0.1369	5.025	0.13721	240	0.90628	.;.	.	.	.	.	.	Uncertain significance	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	822.98	73	chr14	74611657	.	C	G	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.209e+00;DP=814;ExcessHet=0.0000;FS=3.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=0.265;SOR=0.405	GT:AD:DP:GQ:PL	0/1:38,35:73:99:837,0,998	20	0	1	0
chr14	74676156	74676156	T	C	exonic	AREL1	.	nonsynonymous SNV	AREL1:NM_001039479:exon7:c.A817G:p.I273V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.008	B	0.001	D	1.000	D	1.495	L	0.76	T	-0.994	T	0.111	T	0.134	2.528	14.41	4.31	2.075	3.908	11.488	0.047	0.00733869427659	.	0.000199681	0.0002	0.0001	0	0	0	3.004e-05	0	0.0010	0.0001294	20	154602	rs564756614	5.748e-05	5.814e-05	3.541e-05	7.977e-05	0.0008	4.744e-05	4.367e-05	0.0007	0.0006	2.987e-05	0	0	0.0001	0	0	2.698e-06	6.623e-05	0.0008	6.57e-05	6.563e-05	5.141e-05	8.063e-05	0.0004	3.516e-05	2.616e-05	7.296e-05	3.048e-05	0.0001	0	0	0	0.0002	0	0	0	0.0009	0.0004	0.118	0.30375	T	0.216	0.26226	T	0.018	0.17786	B	0.008	0.13708	B	0.000811	0.41658	D	0.260360	0.99998	0.54805	D	1.905	0.50856	L	0.76	0.49919	T	-0.44	0.14588	N	0.198	0.21839	-0.9940	0.31565	T	0.111	0.39912	T	10	0.03902316	0.02362	T	0.007339	0.19469	T	0.047	0.12962	0.263	0.20788	0.459642846412	0.45589	0.33455418603229864	0.33368	0.289516481914	0.31364	0.605499267578	0.53681	T	0.040822	0.25655	T	-0.462701	0.00945	T	-0.502169	0.22123	T	0.0481935281969492	0.05178	T	0.856914	0.55431	D	0.040934667	0.05935	0.048442278	0.07194	0.040934667	0.05935	0.048442278	0.07193	-3.61	0.18002	T	.	.	0.104	0.21353	B	.;.	.;.	2.835257	0.37390	20.5	0.99197933866200327	0.55201	0.96822	0.71126	D	AEFBI	0.431689	0.49387	N	-0.041329768483618	0.39989	2.367378	0.124439615935906	0.45802	2.836992	0.999996128600457	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	4.31	0.50718	3.892000	0.55947	5.086000	0.47311	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0715:0.0:0.9285	11.488	0.49611	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1332.98	94	chr14	74676156	.	T	C	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=1.10;SOR=0.643	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1347,0,1024	20	0	1	0
chr14	74781778	74781778	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1735G:p.P579A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.921	D	.	.	1.000	D	1.59	L	.	.	-0.638	T	0.351	T	0.312	3.040	16.14	5.9	2.793	6.121	19.866	0.176	0.0198110276327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	0.0002	4.108e-06	1.382e-06	3.62e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.62e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.078	0.50514	T	.	.	.	.	.	.	.	.	.	.	0.999918	0.81001	D	.	.	.	.	.	.	-1.59	0.38345	N	0.4	0.45237	-0.6378	0.63239	T	0.351	0.71462	T	8	0.25861296	0.43289	T	0.019811	0.42265	T	0.176	0.44373	0.315	0.29096	0.110392049598	0.10638	0.3113116681727129	0.31044	0.108738436801	0.12267	0.763889551163	0.76510	T	0.017928	0.14543	T	-0.0710243	0.41164	T	-0.339798	0.40367	T	0.417973161023554	0.29615	T	0.806719	0.45571	T	0.11252477	0.26582	0.244229	0.49884	0.11252477	0.26582	0.244229	0.49883	-8.122	0.61899	D	.	.	0.158	0.34840	B	.;.	.;.	2.502066	0.32303	19.00	0.9838911524607169	0.40936	0.99479	0.96535	D	AEFGBI	0.614150	0.60158	D	0.618526765893469	0.74345	6.117236	0.650981732843165	0.78684	6.925852	0.999999999999985	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	1.669000	0.37108	5.846000	0.50293	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	19.866	0.96800	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	98.44	106	chr14	74781778	.	C	G	98.44	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.319e+00;DP=2287;ExcessHet=0.1072;FS=281.393;InbreedingCoeff=-0.2810;MLEAC=3;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.871;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,25:106:1:.:.:1,0,1556	4	0	2	15
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	1|1:0,37,0:37:99:1|1:77027445_C_T:1657,111,0,1658,111,1658:77027445	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	1|1:0,37,0:37:99:1|1:77027445_C_T:1657,111,0,1658,111,1658:77027445	6	6	8	0
chr14	77407535	77407535	C	T	exonic	NOXRED1	.	nonsynonymous SNV	NOXRED1:NM_001113475:exon3:c.G460A:p.V154I,	.	.	435	1048	39	0	0	39	0.018267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.005	B	0.001	B	0.633	N	1.000	N	0.945	L	0.99	T	-1.055	T	0.034	T	0.126	1.001	9.090	-11.5	-2.365	-1.600	0.813	0.038	.	0.0083	0.00419329	0.0066	0.0019	0.0041	0	0.0026	0.0097	0.0055	0.0043	0.0069663	1077	154602	rs141189280	0.0087	0.0088	0.0087	0.0088	0.0333	0.0086	0.0086	0.0294	0.0280	0.0016	0.0061	0.0110	0.0001	0.0020	0.0333	0.0098	0.0086	0.0053	0.0067	0.0067	0.0072	0.0061	0.0103	0.0063	0.0062	0.0096	0.0094	0.0018	0.0132	0.0076	0.0121	0.0002	0.0018	0.0476	0.0103	0.0099	0.0041	0.602	0.08787	T	0.248	0.23845	T	0.001	0.07471	B	0.001	0.04355	B	0.633464	0.05826	N	1.202330	1	0.08975	N	0.075	0.08292	N	0.99	0.41750	T	0.01	0.07736	N	0.111	0.09772	-1.0550	0.13040	T	0.034	0.14639	T	10	0.0045294464	0.00094	T	.	.	.	0.038	0.09825	.	.	0.21737058555	0.21362	0.2516836260169324	0.25082	0.118053165635	0.13290	0.226650893688	0.01729	T	0.020134	0.15906	T	-0.672006	0.00053	T	-0.727679	0.04433	T	0.00575182871688739	0.00063	T	0.424358	0.11346	T	0.030284833	0.02666	0.027110701	0.00840	0.030284833	0.02666	0.027110701	0.00840	-3.256	0.13176	T	.	.	0.081	0.08465	B	.;.	.;.	-1.197009	0.00533	0.012	0.77288193910196079	0.11814	0.03348	0.08433	N	AEFBHCI	0.028639	0.02560	N	-1.78900436564519	0.00572	0.02466229	-1.91754234181815	0.00452	0.01999623	0.999999999943413	0.74766	0.516011	0.20929	0	0.624146	0.53433	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.77	-11.5	0.00057	-1.268000	0.02944	-3.258000	0.02929	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.26:0.2926:0.1298:0.3176	0.813	0.01027	923	0.18507	Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, 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	0.07143	6248.68	141	chr14	77407535	.	C	T	6248.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.15;DP=1112;ExcessHet=0.3300;FS=0.527;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.411;SOR=0.748	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1779,0,1751	18	0	3	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	0/1:111,45:165:32:32,0,1800	5	0	16	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,16,0,0,0,0,0:42:99:.:.:1310,107,0,1071,104,1017,1071,104,1017,1017,1071,104,1017,1017,1017,1071,104,1017,1017,1017,1017,1071,104,1017,1017,1017,1017,1017	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,48:134:99:.:.:458,0,1321	0	0	21	0
chr14	94614688	94614688	G	A	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon2:c.G247A:p.A83T	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.617	P	0.000	D	1.000	D	2.655	M	-2.24	D	0.397	D	0.669	D	0.46	3.124	16.44	3.28	1.285	6.537	10.47	0.610	0.0503912468366	.	.	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	1.94e-05	3	154602	rs199923400	1.026e-05	1.026e-05	9.528e-06	1.1e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	9.892e-06	0	2.319e-05	1.315e-05	1.313e-05	2.572e-05	0	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.471e-05	0	0	0.061	0.41637	T	0.043	0.52060	D	0.851	0.46962	P	0.414	0.44907	B	0.000135	0.49741	D	0.084158	0.988463	0.41154	D	2.715	0.79425	M	-2.24	0.87194	D	-3.69	0.70432	D	0.297	0.33578	0.397	0.89052	D	0.669	0.88527	D	10	0.86370814	0.85603	D	0.050391	0.64223	D	0.610	0.84719	0.698	0.83499	0.906423654839	0.90548	0.21682715476133654	0.21598	0.0513843106545	0.05653	0.373170465231	0.21285	T	0.575043	0.85992	D	-0.0402487	0.45911	T	-0.114063	0.62287	T	0.869344532489777	0.51928	D	0.835216	0.50504	T	0.54842687	0.69868	0.43481746	0.66988	0.54842687	0.69869	0.43481746	0.66989	-5.887	0.45324	T	0.4158735947390267	0.50542	0.164	0.36254	B	.;.;.;.	.;.;.;.	2.954085	0.39315	20.9	0.99784876830864122	0.87131	0.94805	0.62390	D	AEFBCI	0.936647	0.93327	D	0.349606962098897	0.58718	4.045925	0.265451256376663	0.53533	3.521792	0.99999624681949	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.13	3.28	0.36691	5.656000	0.67659	2.029000	0.30245	0.656000	0.54149	1.000000	0.71638	0.020000	0.20764	0.046000	0.14843	0.1588:0.0:0.8412:0.0	10.47	0.43817	778	0.48011	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2838.98	201	chr14	94614688	.	G	A	2838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=1032;ExcessHet=0.0000;FS=6.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=1.25;SOR=1.158	GT:AD:DP:GQ:PL	0/1:94,107:201:99:2853,0,2097	20	0	1	0
chr14	103920956	103920956	G	C	exonic	ATP5MPL	.	nonsynonymous SNV	ATP5MPL:NM_001127393:exon2:c.C35G:p.S12C,	.	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	0.7	T	-0.950	T	0.106	T	0.062	0.999	9.078	-1.06	-0.309	-0.012	2.742	0.011	0.00237381004347	.	0.000199681	0.0018	0	0	0	0	0.0009	0.0053	0.0034	0.0002587	40	154602	rs199621733	0.0005	0.0005	0.0003	0.0006	0.0041	0.0004	0.0004	0.0037	0.0036	9.495e-05	8.402e-05	0.0025	5.597e-05	0	0.0040	0.0002	0.0007	0.0041	0.0004	0.0004	0.0003	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	7.216e-05	0	0.0001	0.0029	0	0	0	0.0002	0.0005	0.0043	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.7	0.51474	T	0.51	0.02898	N	0.179	0.19325	-0.9502	0.40938	T	0.106	0.38611	T	6	0.003975183	0.00077	T	0.002374	0.04618	T	0.011	0.01250	0.225	0.14960	0.082315109003	0.07666	0.014362762043162112	0.01393	1.01298021162	0.74837	.	.	.	.	.	.	-0.616415	0.00116	T	-0.658359	0.08378	T	0.0175485569360276	0.00489	T	0.394361	0.09853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11172	B	.	.	0.266842	0.06449	2.921	0.8617430934275504	0.16361	0.07274	0.13297	N	AEFDGBHCI	0.052851	0.09471	N	-0.820395568768857	0.12789	0.6257097	-1.04695621047659	0.08770	0.4328535	0.999998999646604	0.74766	0.493124	0.18060	0	0.484254	0.07192	0	0.694767	0.63188	0	0.627883	0.49187	0	.	.	2.01	-1.06	0.09491	-0.298000	0.08302	-0.331000	0.09890	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.336:0.2536:0.4104:0.0	2.742	0.04933	447	0.79583	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1985.98	171	chr14	103920956	.	G	C	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.334;DP=891;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-3.121e+00;SOR=0.595	GT:AD:DP:GQ:PL	0/1:88,83:171:99:2000,0,2148	20	0	1	0
chr14	104022207	104022207	C	T	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon24:c.C2483T:p.P828L,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.976	D	0.002	N	1.000	D	1.905	M	3.97	T	-1.227	T	0.042	T	0.703	3.467	17.75	5.6	2.641	3.774	19.607	0.231	0.026109724448	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007154296	1.537e-05	1.505e-05	1.937e-05	1.128e-05	0.0002	1.006e-05	8.59e-06	4.966e-05	3.204e-05	0	0.0001	0	0	0	0.0002	9.118e-06	6.723e-05	2.444e-05	7.884e-05	7.88e-05	7.707e-05	8.07e-05	0.0007	4.496e-05	3.512e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.102	0.48594	T	0.604	0.39417	P	0.132	0.33005	B	0.002045	0.37364	N	0.185500	1	0.81001	D	2.35	0.67516	M	3.94	0.03408	T	-5.42	0.85247	D	0.405	0.44570	-1.2269	0.00036	T	0.042	0.18118	T	10	0.3206932	0.49441	T	0.02611	0.49041	D	0.231	0.53208	0.544	0.65731	0.312001716656	0.30816	0.7128802110317388	0.71230	0.795491362318	0.66019	0.682111263275	0.64572	T	0.332172	0.70216	T	-0.0890354	0.38237	T	-0.250715	0.49746	T	0.94208037853241	0.61592	D	0.907909	0.67446	D	0.22921678	0.45655	0.3269594	0.58598	0.22921678	0.45655	0.3269594	0.58597	-9.713	0.72176	D	.	.	0.154	0.34026	B	.;.	.;.	3.405606	0.47215	22.4	0.99702805858571641	0.80729	0.91882	0.54467	D	AEFI	0.521212	0.54574	D	0.434170224311898	0.63310	4.562433	0.447170447543229	0.64534	4.710912	0.999999218696348	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.6	5.6	0.84997	3.858000	0.55690	5.893000	0.50786	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	19.607	0.95580	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	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	660.98	65	chr14	104022207	.	C	T	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=739;ExcessHet=0.0000;FS=0.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.716;SOR=0.852	GT:AD:DP:GQ:PL	0/1:37,28:65:99:675,0,851	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	0/1:11,36,0:47:99:1477,0,348,1510,462,1972	11	3	4	0
chr14	104944616	104944616	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A10535C:p.K3512T	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.004	B	.	.	1.000	N	1.925	M	5.41	T	-0.915	T	0.004	T	0.118	1.177	9.788	-3.02	-0.522	-0.849	6.059	0.018	0.00323837589653	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772554019	6.195e-06	6.156e-06	4.108e-06	8.306e-06	0.0003	2.92e-06	2.11e-06	6.119e-05	2.531e-05	0	0	0	0	0	0.0003	1.805e-06	3.332e-05	3.545e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.434	0.13557	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.125	0.28843	L	5.41	0.01008	T	-1.85	0.43334	N	0.101	0.08366	-0.9155	0.46155	T	0.004	0.01400	T	9	0.036355436	0.01930	T	0.003238	0.07147	T	0.018	0.03083	0.291	0.25241	0.0297737177859	0.01360	0.019583498918546893	0.01912	.	.	0.193800568581	0.00299	T	0.020301	0.16009	T	-0.461577	0.00961	T	-0.719272	0.04831	T	0.0405432987582317	0.03789	T	0.182682	0.01864	T	0.028251315	0.02134	0.03221052	0.01923	0.028251315	0.02134	0.03221052	0.01923	-4.83	0.34939	T	.	.	0.119	0.24329	B	.	.	-0.690094	0.01344	0.075	0.89592783904981776	0.18930	0.04509	0.10133	N	AEFBI	.	.	.	-1.38256486416742	0.02801	0.124228	-1.49956825719517	0.02348	0.1078646	2.99359285535121E-4	0.06406	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.31	-3.02	0.05116	-0.035000	0.12156	-20.000000	0.00162	-5.034000	0.00016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2712:0.2391:0.4897	6.059	0.19054	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5910.98	458	chr14	104944616	.	T	G	5910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.826e+00;DP=5981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=1.49;QD=12.91;ReadPosRankSum=0.783;SOR=0.703	GT:AD:DP:GQ:PL	0/1:218,240:458:99:5925,0,6077	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,204,0:204:99:1|1:104946204_C_T:9168,614,0,9168,614,9168:104946204	1	7	12	0
chr14	104950937	104950937	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4214C:p.V1405A	.	.	447	1070	4	1	0	6	0.0027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.039	B	0.042	B	.	.	1.000	N	2.185	M	5.46	T	-0.918	T	0.004	T	0.131	2.614	14.70	-2.23	-0.308	0.217	5.411	0.042	0.00571125444378	.	0.00299521	0.0009	0.0040	0.0033	0.0007	0	0.0002	0.0011	0.0012	0.0009702	150	154602	rs201208145	0.0006	0.0011	0.0006	0.0006	0.0043	0.0006	0.0006	0.0037	0.0035	0.0043	0.0021	7.887e-05	0.0007	0.0002	0.0020	0.0004	0.0012	0.0010	0.0020	0.0031	0.0020	0.0019	0.0050	0.0018	0.0017	0.0044	0.0042	0.0050	0	0.0015	0	0.0019	0.0001	0	0.0002	0.0019	0.0012	0.109	0.29288	T	0.11	0.37310	T	0.039	0.21116	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	2.39	0.68882	M	5.46	0.00959	T	-1.71	0.40660	N	0.137	0.13484	-0.9183	0.45783	T	0.004	0.01295	T	9	0.004491329	0.00092	T	0.005711	0.14802	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.004643344942407193	0.00437	.	.	0.252464830875	0.04031	T	0.019876	0.15755	T	-0.569701	0.00222	T	-0.636664	0.09914	T	0.011275037843846	0.00166	T	0.319768	0.06432	T	0.04307916	0.06649	0.037972894	0.03565	0.04307916	0.06649	0.037972894	0.03565	-3.578	0.17539	T	.	.	0.151	0.33412	B	.	.	0.774137	0.11441	8.048	0.92004548075681325	0.21340	0.03024	0.07904	N	AEFBI	.	.	.	-1.03340405883072	0.07917	0.3694327	-1.15566882780084	0.06666	0.3216504	1.63033908453476E-4	0.05721	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.06	-2.23	0.06539	0.776000	0.26365	-4.395000	0.02179	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.456:0.1544:0.3895:0.0	5.411	0.15649	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	733.33	67	chr14	104950937	.	A	G	733.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.200e-02;DP=2929;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=41.07;MQRankSum=-1.912e+00;QD=10.95;ReadPosRankSum=0.617;SOR=0.394	GT:AD:DP:GQ:PL	0/1:39,28:67:99:747,0,1465	19	0	1	1
chr14	105488202	105488202	G	C	exonic	CRIP1	.	nonsynonymous SNV	CRIP1:NM_001311:exon3:c.G77C:p.R26P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.015	B	0.000	U	1.000	D	.	.	0.77	T	-1.045	T	0.092	T	0.728	2.363	13.86	2.92	0.997	5.274	9.156	0.215	0.0700217622735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	0	4.128e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.176	0.29843	T	0.001	0.07471	B	0.015	0.17295	B	0.000472	0.44119	U	0.000000	0.999976	0.53665	D	.	.	.	0.77	0.49642	T	-2.81	0.59389	D	0.753	0.76019	-1.0452	0.15767	T	0.092	0.35092	T	9	0.73454267	0.74529	D	0.070022	0.70890	D	0.215	0.50805	0.563	0.68364	0.723293550248	0.72084	0.7339088423068653	0.73335	0.0753709897467	0.08448	0.832615971565	0.86964	D	0.437467	0.78347	T	0.0345338	0.56327	T	-0.188171	0.55762	T	0.967030882835388	0.67776	D	.	.	.	0.47289118	0.65468	0.5442452	0.73657	0.47289118	0.65469	0.5442452	0.73657	-11.984	0.84773	D	.	.	0.926	0.84672	P	.;.;.	.;.;.	4.543140	0.71428	25.7	0.98061587807679795	0.37952	0.83654	0.42757	D	ALL	0.900064	0.84516	D	-0.176752296646181	0.34105	1.942647	-0.0760324129511887	0.36383	2.116687	0.999999999986211	0.74766	0.676563	0.55306	0	0.52208	0.09955	0	0.673471	0.61138	0	0.600526	0.37237	0	.	.	4.76	2.92	0.32998	3.831000	0.55477	9.480000	0.80881	0.575000	0.29119	0.953000	0.33222	1.000000	0.68203	0.970000	0.54328	0.1808:0.0:0.8192:0.0	9.156	0.36155	940	0.13648	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	483.98	55	chr14	105488202	.	G	C	483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=762;ExcessHet=0.0000;FS=4.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-5.290e-01;SOR=0.283	GT:AD:DP:GQ:PL	0/1:34,21:55:99:498,0,781	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|1:66,21,0:87:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:674,0,2545,877,2609,3486:20534604	10	0	7	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,9,21:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,503,2671,0,1177,2149:20534604	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,21,0:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,0,2149,930,1942,3090:20534604	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,21:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,930,3090,0,1942,2149:20534604	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,21,0:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,0,2149,930,1942,3090:20534604	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,21,0:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,0,2149,930,1942,3090:20534604	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,21:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,930,3090,0,1942,2149:20534604	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,21:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,930,3090,0,1942,2149:20534604	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|1:37,21,0:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,0,2149,930,1942,3090:20534604	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|1:37,21,0:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,0,2149,930,1942,3090:20534604	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|1:37,21,0:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,0,2149,930,1942,3090:20534604	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|2:37,0,21:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,930,3090,0,1942,2149:20534604	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,21,0:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,0,2149,930,1942,3090:20534604	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,21:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,930,3090,0,1942,2149:20534604	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,21:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,930,3090,0,1942,2149:20534604	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,21:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,930,3090,0,1942,2149:20534604	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,21,0:67:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:709,0,2149,930,1942,3090:20534604	5	0	10	2
chr15	20535254	20535254	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C1180T:p.R394C,	.	.	660	857	5	0	0	5	0.00290867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.718	P	.	.	0.987	N	1.04	L	2.99	T	-1.030	T	0.031	T	0.223	-0.537	1.560	.	0.149	0.530	.	0.036	.	.	.	0.0220	0	0	0	.	0.0340	0	0.0241	0.0001153	3	26028	rs753318256	0.0104	0.0097	0.0101	0.0106	0.0155	0.0102	0.0101	0.0121	0.0118	0.0017	0.0041	0.0167	3.058e-05	0.0093	0.0155	0.0113	0.0124	0.0129	0.0035	0.0039	0.0036	0.0035	0.0049	0.0032	0.0031	0.0043	0.0041	0.0010	0.0166	0.0018	0.0061	0	0.0042	0	0.0049	0.0036	0.0048	.	.	.	0.216	0.26226	T	.	.	.	.	.	.	.	.	.	.	0.98661	0.24600	N	.	.	.	.	.	.	.	.	.	0.134	0.13055	-1.0302	0.20390	T	0.031	0.13286	T	7	0.0040552616	0.00079	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.0010305415930272075	0.00095	.	.	0.543417036533	0.44928	T	0.008543	0.07834	T	-0.216291	0.18501	T	-0.548463	0.17474	T	0.013754574758509	0.00258	T	0.370263	0.08727	T	0.063925505	0.13510	0.0942307	0.22294	0.063925505	0.13509	0.0942307	0.22294	-5.7	0.43694	T	.	.	0.213	0.44122	B	.	.	2.164793	0.27584	17.51	0.51490358097531141	0.04572	0.00860	0.03421	N	AEFI	0.042385	0.06571	N	-0.577418607764664	0.19632	1.028985	-0.848704842727349	0.13319	0.6902728	1.11164203910733E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.367000	0.07607	-3.333000	0.02868	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.02381	90.98	10	chr15	20535254	.	G	A	90.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=543;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=36.16;MQRankSum=1.05;QD=9.10;ReadPosRankSum=-1.210e+00;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:99:0|1:20535254_G_A:105,0,207:20535254	20	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1321,123,0	1	16	3	1
chr15	22769367	22769367	T	C	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327727541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.0066	0.0062	0.0062	0.0150	0.0057	0.0056	0.0135	0.0130	0.0150	0.0021	0.0058	0.0068	0.0008	0.0008	0	0.0028	0.0050	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	0/1:1,2,0:3:33:40,0,33,43,39,82	13	0	2	3
chr15	22769367	22769367	T	0	exonic	GOLGA6L7	.	.	.	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	0/1:1,2,0:3:33:40,0,33,43,39,82	13	0	2	3
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,58,0:88:99:.:.:1515,0,677,1605,851,2456	10	0	3	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,82,84:167:99:.:.:6654,2794,3348,3476,0,3176	0	0	2	0
chr15	25718352	25718352	C	T	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon8:c.G1411A:p.V471M,	.	.	.	.	.	.	.	.	.	.	.	3300997	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.075	B	0.043	B	0.117	N	1.000	N	0.55	N	2.81	T	-0.973	T	0.017	T	0.164	0.838	8.385	-4.55	-0.394	-0.106	5.485	0.032	0.00435900524347	.	.	0.0001	0.0001	0	0	0.0003	0.0002	0	0	8.41e-05	13	154602	rs573609756	5.359e-05	5.541e-05	5.194e-05	5.525e-05	0.0011	4.362e-05	4.035e-05	0.0005	0.0003	2.998e-05	2.258e-05	0.0006	0	1.976e-05	0.0011	4.411e-05	6.65e-05	0	5.914e-05	5.91e-05	7.707e-05	4.035e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.339e-05	0	0	0	0.0006	0	0	0	0.0001	0	0	0.236	0.17940	T	0.245	0.24054	T	0.075	0.24198	B	0.043	0.24256	B	0.117439	0.02694	N	1.874500	1	0.08975	N	0.955	0.23872	L	2.81	0.10975	T	0.28	0.04233	N	0.226	0.25377	-0.9729	0.36583	T	0.017	0.07187	T	10	0.027661145	0.00909	T	0.004359	0.10624	T	0.032	0.07718	.	.	0.429369812208	0.42556	0.20258114354835435	0.20175	0.170557378409	0.19226	0.26051685214	0.04952	T	0.010449	0.09434	T	-0.408067	0.02048	T	-0.638664	0.09767	T	0.0204679518938065	0.00747	T	0.675032	0.28342	T	0.04050847	0.05794	0.04222881	0.04983	0.04050847	0.05794	0.04222881	0.04983	-3.015	0.10343	T	.	.	0.085	0.10304	B	.	.	0.540406	0.09088	5.873	0.95499521569859802	0.27087	0.04682	0.10364	N	AEFDBI	0.061224	0.11690	N	-1.06111222397106	0.07371	0.3422102	-1.12218295530598	0.07278	0.3533891	0.999994454492514	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.99	-4.55	0.03197	-0.115000	0.10713	-0.846000	0.07197	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.350000	0.25659	0.2173:0.2822:0.0:0.5005	5.485	0.16038	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	1	0	0	0	0.02381	439.98	35	chr15	25718352	.	C	T	439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.67;DP=717;ExcessHet=0.0000;FS=5.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-1.518e+00;SOR=1.609	GT:AD:DP:GQ:PL	0/1:20,15:35:99:454,0,444	20	0	1	0
chr15	28527435	28527435	C	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon8:c.G27T:p.M9I	.	.	454	1044	21	3	0	27	0.012766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000523040748597	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268493071	0.0027	0.0030	0.0028	0.0027	0.0183	0.0026	0.0026	0.0141	0.0127	0.0022	0.0049	0.0018	0	0.0004	0.0183	0.0033	0.0038	0.0011	0.0024	0.0027	0.0024	0.0024	0.0033	0.0021	0.0021	0.0025	0.0023	0.0019	0	0.0033	0.0012	0	0.0005	0.0079	0.0028	0.0064	0.0010	0.931	0.02245	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	0.49	0.02993	N	0.06	0.03175	.	.	.	.	.	.	.	0.008204997	0.00186	T	5.23E-4	0.00174	T	.	.	.	.	0.0138822411134	0.00435	0.22901428615377845	0.22816	1.25351651058	0.81861	.	.	.	.	.	.	-0.693542	0.00040	T	-0.769521	0.02784	T	.	.	.	0.333767	0.07077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40666	B	.	.	-0.934766	0.00869	0.031	0.40862136682954447	0.02911	0.01035	0.03875	N	AEFI	0.042647	0.06644	N	.	.	.	.	.	.	3.77405762741583E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-0.186000	0.09666	-0.795000	0.07398	-1.187000	0.01379	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.77:0.0:0.23	7.355	0.25886	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	305.98	48	chr15	28527435	.	C	A	305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=726;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=22.90;MQRankSum=-1.272e+00;QD=6.37;ReadPosRankSum=-4.150e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/1:30,18:48:99:320,0,629	20	0	1	0
chr15	29124687	29124687	C	G	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon10:c.G1303C:p.A435P,	.	.	426	1057	37	2	0	41	0.0190255	1.0000	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	P	0.519	P	0.406	N	0.993	N	0.895	L	4.1	T	-0.940	T	0.008	T	0.144	2.523	14.40	2.65	0.506	0.638	6.469	0.070	.	.	0.00239617	0.0068	0.0022	0.0071	0	0	0.0123	0.0266	0.0029	0.0021604	334	154602	rs61736885	0.0090	0.0086	0.0091	0.0089	0.0400	0.0089	0.0088	0.0358	0.0341	0.0024	0.0050	0.0168	8.395e-05	0.0009	0.0400	0.0101	0.0092	0.0025	0.0066	0.0066	0.0068	0.0064	0.0096	0.0063	0.0062	0.0089	0.0087	0.0024	0.0011	0.0096	0.0176	0	0.0007	0.0374	0.0095	0.0085	0.0039	0.293	0.14843	T	0.418	0.14200	T	0.929	0.51690	P	0.519	0.48163	P	0.406465	0.04566	N	1.383280	0.993407	0.23718	N	0.895	0.22405	L	4.1	0.02944	T	-0.43	0.14390	N	0.112	0.09914	-0.9404	0.42552	T	0.008	0.02926	T	9	0.005343735	0.00117	T	.	.	.	0.070	0.20419	.	.	0.112648838833	0.10856	0.12152855287662725	0.12079	.	.	0.328835964203	0.14758	T	0.00334	0.02748	T	-0.606268	0.00133	T	-0.634243	0.10094	T	0.00694505413504118	0.00079	T	0.29847	0.05558	T	0.1109204	0.26215	0.1353888	0.32417	0.1109204	0.26215	0.1353888	0.32416	-3.344	0.14311	T	.	.	0.070	0.03515	B	.	.	2.485933	0.32067	18.93	0.98772934176810789	0.46002	0.52931	0.29249	D	AEFDBCIJ	0.438409	0.49781	N	-0.269605845737956	0.30328	1.690033	-0.377055002329031	0.25682	1.413872	0.999585297186929	0.40607	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.56	2.65	0.30588	0.667000	0.24794	0.835000	0.21986	0.537000	0.25018	0.437000	0.26463	0.720000	0.26347	0.032000	0.13371	0.1796:0.7254:0.0:0.095	6.469	0.21197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	742.98	83	chr15	29124687	.	C	G	742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=783;ExcessHet=0.0000;FS=4.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.95;ReadPosRankSum=0.311;SOR=1.153	GT:AD:DP:GQ:PL	0/1:45,38:83:99:757,0,991	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	1/1:0,58,0:60:99:2354,180,0,2168,179,2061	0	10	0	0
chr15	33652743	33652743	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon32:c.G4168A:p.V1390I	.	.	0	1521	1	0	0	1	0.000328623	.	.	996186	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.984	D	0.959	D	0.000	N	1.000	D	1.885	L	0.19	T	-0.584	T	0.238	T	0.197	3.498	17.88	3.63	1.568	6.583	12.310	0.164	0.00809884506342	8.1e-05	0.000599042	4.154e-05	0.0003	0.0002	0	0	0	0	0	5.17e-05	8	154602	rs138445751	1.642e-05	1.642e-05	2.587e-05	6.878e-06	0.0005	1.111e-05	9.34e-06	0.0003	0.0002	0.0005	4.475e-05	0	0	0	0	0	9.94e-05	0	4.596e-05	4.593e-05	6.424e-05	2.686e-05	0.0002	2.108e-05	1.526e-05	7.873e-05	5.576e-05	0.0002	0	0	0	0	0	0	0	0	0	0.093	0.31532	T	.	.	.	0.984	0.60733	D	0.959	0.70163	D	0.000253	0.46924	N	0.141477	0.999985	0.54805	D	2.56	0.74772	M	0.19	0.60236	T	-0.75	0.21003	N	0.373	0.41459	-0.5842	0.65451	T	0.238	0.60595	T	10	0.12814733	0.24376	T	0.008099	0.21470	T	0.164	0.42212	.	.	0.530035883213	0.52651	0.512783857857806	0.51200	0.147539012077	0.16648	0.551260590553	0.46035	T	0.467367	0.80173	T	-0.297404	0.08907	T	-0.385541	0.35073	T	0.125312803812559	0.14942	T	0.941006	0.77964	D	0.077676654	0.17644	0.110175245	0.26562	0.077676654	0.17644	0.110175245	0.26562	-5.833	0.44861	T	.	.	0.083	0.09433	B	.;.;.;.;.	.;.;.;.;.	3.807957	0.54910	23.5	0.99615889672216018	0.75112	0.97388	0.74432	D	AEFBI	0.775055	0.70858	D	0.34037576737301	0.58234	3.994436	0.398519378167827	0.61473	4.347914	0.838485087070772	0.24822	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	3.63	0.40741	6.895000	0.75479	8.620000	0.77807	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1381:0.0:0.8619:0.0	12.310	0.54244	959	0.08690	SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3;.;SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3;SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3;SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1267.98	115	chr15	33652743	.	G	A	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-7.190e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1282,0,1547	20	0	1	0
chr15	34982482	34982482	C	G	exonic	ZNF770	.	nonsynonymous SNV	ZNF770:NM_014106:exon3:c.G953C:p.R318T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.22	B	0.058	B	0.427	U	0.992	N	0.805	L	3.03	T	-0.998	T	0.017	T	0.167	0.831	8.351	2.32	0.356	0.023	9.795	0.067	0.00899333996319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.157	0.31730	T	0.22	0.30288	B	0.058	0.26451	B	0.426622	0.12802	U	0.716824	0.991737	0.23991	N	1.63	0.41750	L	3.03	0.08898	T	-1.43	0.35194	N	0.406	0.44666	-0.9976	0.30590	T	0.017	0.07140	T	10	0.14980197	0.28345	T	0.008993	0.23678	T	0.067	0.19503	0.636	0.77251	0.043077524339	0.03247	0.19788553753015892	0.19705	0.25774288697	0.28330	0.315893530846	0.12799	T	0.057204	0.30501	T	-0.247225	0.14441	T	-0.592898	0.13417	T	0.0599450146263638	0.07160	T	0.70183	0.31167	T	0.046721432	0.07867	0.07154798	0.15333	0.046721432	0.07867	0.07154798	0.15333	-2.976	0.09925	T	.	.	0.179	0.38959	B	.	.	1.426500	0.18442	13.74	0.89555430875659714	0.18897	0.72071	0.35291	D	AEFBCI	0.189789	0.31703	N	-0.409428258836853	0.25137	1.362385	-0.327448469276891	0.27215	1.508615	0.993055535622649	0.33067	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	2.32	0.27895	0.114000	0.15353	0.341000	0.17381	0.599000	0.40250	0.141000	0.23520	0.988000	0.31051	0.942000	0.48361	0.0:0.6588:0.0:0.3412	9.795	0.39896	934	0.15400	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1457.98	143	chr15	34982482	.	C	G	1457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.584e+00;DP=938;ExcessHet=0.0000;FS=4.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.190;SOR=0.410	GT:AD:DP:GQ:PL	0/1:82,61:143:99:1472,0,2236	20	0	1	0
chr15	40337785	40337785	G	A	exonic	CCDC9B	.	nonsynonymous SNV	CCDC9B:NM_207380:exon6:c.C754T:p.R252W,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.006	N	0.992	D	2.255	M	-0.7	T	-0.134	T	0.478	T	0.797	4.245	22.1	2.67	0.325	1.903	9.722	0.588	0.132140717494	7.7e-05	.	0.0001	0.0001	0	0.0007	0	3.219e-05	0	0.0002	9.06e-05	14	154602	rs369729337	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	2.241e-05	0	7.558e-05	0	0	0.0002	0.0002	0.0001	9.856e-05	9.85e-05	6.423e-05	0.0001	0.0004	6.007e-05	4.88e-05	6.816e-05	5.087e-05	7.241e-05	0	0	0	0.0004	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.006053	0.32309	N	0.190458	0.992437	0.41644	D	.	.	.	-0.7	0.72785	T	-8.0	0.96495	D	0.692	0.70263	-0.1342	0.79303	T	0.478	0.79996	T	10	0.73601866	0.74626	D	0.132141	0.81444	D	0.588	0.83526	.	.	0.717575603647	0.71508	0.5986707839489119	0.59798	0.403205941033	0.41266	.	.	.	0.300392	0.67289	T	-0.0561404	0.43510	T	0.00159147	0.70440	D	0.524106860160828	0.33517	D	0.948705	0.86052	D	0.64495295	0.75095	0.47391304	0.69508	0.64495295	0.75096	0.47391304	0.69508	-10.127	0.74669	D	.	.	0.600	0.68892	P	.;.	.;.	4.517921	0.70805	25.6	0.99912687413758339	0.98167	0.56034	0.30014	D	AEFDBHCI	0.560676	0.56898	D	0.40920267341663	0.61926	4.400682	0.315250906739183	0.56434	3.806831	0.999981138742264	0.51787	0.489673	0.17934	0	0.547309	0.14657	0	0.596394	0.31383	0	0.662433	0.64102	0	.	.	4.63	2.67	0.30756	1.797000	0.38438	1.116000	0.24201	0.676000	0.76740	0.998000	0.41325	0.644000	0.25929	0.999000	0.91618	0.0:0.0:0.5974:0.4026	9.722	0.39477	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	85	chr15	40337785	.	G	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=808;ExcessHet=0.0000;FS=2.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=0.053;SOR=0.858	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1205,0,849	20	0	1	0
chr15	41854070	41854070	G	A	exonic	SPTBN5	.	stopgain	SPTBN5:NM_016642:exon57:c.C9754T:p.Q3252X,	.	.	389	1130	3	0	0	3	0.00132567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	0.111	N	1.000	A	.	.	.	.	.	.	.	.	.	18.225	51	3.32	0.979	0.250	10.839	.	.	.	.	0.0004	0	0	0	0	0.0002	0	0.0011	0.0001164	18	154602	rs199808107	6.754e-05	6.909e-05	6.412e-05	7.103e-05	0.0012	5.651e-05	5.252e-05	0.0006	0.0004	0	0	0	0	0	0.0012	4.661e-05	0.0002	0.0004	3.942e-05	3.94e-05	3.853e-05	4.034e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.110506	0.19439	N	0.417155	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273808	0.80779	D	0.466048	0.93926	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.377382	0.97492	37	0.99030507797122369	0.50786	0.39387	0.26202	N	AEFDBCI	0.147671	0.27140	N	0.218935887555586	0.52116	3.387989	-0.0846464047972341	0.36024	2.091274	0.992740422742521	0.32953	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.25	3.32	0.37134	0.824000	0.27034	3.908000	0.40392	0.612000	0.49041	0.006000	0.17386	0.998000	0.33993	0.430000	0.27449	0.0:0.0:0.4648:0.5352	10.839	0.45911	221	0.91431	.	.	.	.	.	.	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	754.98	51	chr15	41854070	.	G	A	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.152e+00;DP=737;ExcessHet=0.0000;FS=2.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-9.070e-01;SOR=0.343	GT:AD:DP:GQ:PL	0/1:18,33:51:99:769,0,430	20	0	1	0
chr15	42278547	42278547	A	G	exonic	GANC	.	nonsynonymous SNV	GANC:NM_001301410:exon3:c.A158G:p.D53G	.	.	432	1082	7	1	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.0	B	0.0	B	0.640	N	1.000	N	-1.185	N	2.23	T	-0.967	T	0.009	T	0.356	-2.182	0.005	-0.908	-0.307	0.268	0.374	0.050	0.00124170569323	.	0.000599042	0.0006	0	8.637e-05	0	0	0.0001	0	0.0035	0.0004592	71	154602	rs200477745	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0002	0.0033	0.0031	2.991e-05	6.733e-05	0	0	0	0.0023	3.689e-05	0.0005	0.0036	0.0002	0.0002	8.991e-05	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	2.404e-05	0	0	0	0	0	0	0.0001	0	0.0048	0.523	0.24758	T	0.626	0.36630	T	0.0	0.02946	B	0.0	0.01387	B	0.640399	0.10605	N	0.845750	1	0.08975	N	-0.205	0.04094	N	2.23	0.18083	T	0.57	0.12472	N	0.067	0.04668	-0.9667	0.37874	T	0.009	0.03271	T	10	0.0036210418	0.00066	T	0.001242	0.01658	T	0.050	0.13987	0.248	0.18447	0.0716867268079	0.06686	0.3007147056718181	0.29984	0.0225653391353	0.02277	0.238291412592	0.02639	T	0.073879	0.44646	T	-0.542567	0.00323	T	-0.553609	0.16980	T	0.0235768483486972	0.01092	T	0.642236	0.25428	T	0.03735528	0.04774	0.033168927	0.02169	0.03735528	0.04773	0.033168927	0.02169	-3.043	0.10651	T	.	.	0.058	0.18787	B	.;.;.;.;.	.;.;.;.;.	0.480630	0.08503	5.262	0.57281981692343187	0.05735	0.00244	0.01352	N	AEFBI	0.021196	0.00918	N	-1.71555168267237	0.00788	0.0340437	-1.61853053223319	0.01546	0.07007482	0.679973812817064	0.22468	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.44	-0.908	0.09982	0.503000	0.22318	1.637000	0.27771	-1.002000	0.01800	0.007000	0.17678	0.817000	0.27092	0.643000	0.32503	0.3172:0.1306:0.2848:0.2674	0.374	0.00357	481	0.77356	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1054.98	110	chr15	42278547	.	A	G	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=940;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-1.274e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/1:65,45:110:99:1069,0,1645	20	0	1	0
chr15	43191645	43191645	T	C	exonic	CCNDBP1	.	nonsynonymous SNV	CCNDBP1:NM_012142:exon8:c.T830C:p.I277T,	.	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.977	D	0.000	D	1.000	D	2.015	M	0.68	T	-0.508	T	0.271	T	0.958	4.178	21.6	5.35	2.253	5.650	13.334	0.485	0.0445118252133	0.0018	0.00119808	0.0021	0.0009	0.0029	0	0	0.0031	0.0056	0.0001	0.0020569	318	154602	rs78193368	0.0021	0.0021	0.0021	0.0021	0.0298	0.0020	0.0020	0.0261	0.0247	0.0007	0.0032	0.0205	0	0.0001	0.0298	0.0018	0.0031	0.0003	0.0024	0.0024	0.0024	0.0024	0.0048	0.0022	0.0021	0.0039	0.0036	0.0003	0	0.0048	0.0196	0.0002	9.418e-05	0.0408	0.0026	0.0057	0.0002	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.977	0.73820	D	0.000003	0.62929	D	0.061085	0.992255	0.41596	D	2.675	0.78361	M	0.68	0.51952	T	-2.92	0.61129	D	0.756	0.75466	-0.5084	0.68345	T	0.271	0.64266	T	10	0.012171805	0.00263	T	0.044512	0.61527	D	0.485	0.77399	.	.	0.787488330306	0.78551	0.56531860541395	0.56458	0.684711321429	0.60236	0.607470273972	0.53957	T	0.49721	0.81917	T	-0.0530098	0.43989	T	0.152032	0.80312	D	0.0233625366792587	0.01067	T	0.89611	0.63771	D	0.59699816	0.72529	0.42116138	0.66057	0.59699816	0.72530	0.42116138	0.66057	-8.395	0.63732	D	.	.	0.447	0.62063	A	.	.	4.573703	0.72187	25.8	0.9985489717374868	0.93368	0.97514	0.75245	D	AEFBI	0.680581	0.64423	D	0.698838947571908	0.79556	7.102656	0.681039188547899	0.80941	7.412114	0.999999949269164	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	5.996000	0.70309	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	13.334	0.59947	17	0.98681	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	793.98	58	chr15	43191645	.	T	C	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-01;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.456;SOR=0.576	GT:AD:DP:GQ:PL	0/1:25,33:58:99:808,0,608	20	0	1	0
chr15	43746652	43746652	G	T	exonic	PDIA3	.	nonsynonymous SNV	PDIA3:NM_005313:exon1:c.G113T:p.R38L,	.	.	405	1097	19	1	0	21	0.00948081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.001	B	0.001	N	1.000	D	-0.35	N	1.35	T	-1.101	T	0.044	T	0.603	1.890	12.28	4.53	1.273	2.749	14.126	0.269	0.0579080737237	0.0002	0.00159744	0.0014	0.0002	0.0003	0.0001	0.0002	0.0010	0.0023	0.0058	0.0012872	199	154602	rs61734331	0.0009	0.0009	0.0006	0.0011	0.0113	0.0008	0.0008	0.0091	0.0083	0.0006	0.0005	0.0009	0	0.0002	0.0113	0.0005	0.0014	0.0054	0.0008	0.0008	0.0006	0.0010	0.0060	0.0007	0.0006	0.0043	0.0037	9.617e-05	0	0.0012	0	0.0002	0.0002	0.0170	0.0008	0.0019	0.0060	0.419	0.09866	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.001245	0.39669	N	0.293323	0.994678	0.81001	D	-0.385	0.03041	N	1.35	0.34648	T	-2.14	0.48523	N	0.525	0.55453	-1.1005	0.04032	T	0.044	0.18742	T	10	0.006813258	0.00155	T	0.057908	0.67131	D	0.269	0.58381	.	.	0.564807590308	0.56144	0.7740285478501997	0.77352	0.434678680271	0.43598	0.704465389252	0.67790	T	0.126148	0.45234	T	-0.42359	0.01623	T	-0.379454	0.35787	T	0.0361380109226858	0.03006	T	0.830117	0.49576	T	0.5613986	0.70587	0.3276413	0.58660	0.5613986	0.70588	0.3276413	0.58660	-5.088	0.37780	T	0.12083687271369165	0.11405	0.237	0.47116	B	.	.	3.797871	0.54703	23.5	0.92667001620153644	0.22148	0.94889	0.62681	D	ALL	0.637925	0.61653	D	-0.519989013244172	0.21433	1.13748	-0.319287757836083	0.27476	1.524883	0.999999999999977	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.46	4.53	0.55009	3.802000	0.55256	9.507000	0.80915	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.1506:0.8494:0.0	14.126	0.64749	6	0.99319	Thioredoxin domain|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	0.02381	2216.98	175	chr15	43746652	.	G	T	2216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.150e-01;DP=881;ExcessHet=0.0000;FS=2.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.330e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:82,93:175:99:2231,0,1890	20	0	1	0
chr15	45265138	45265138	-	A	exonic	SLC28A2	.	frameshift insertion	SLC28A2:NM_004212:exon8:c.753dupA:p.L252Tfs*81,	.	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0006	0	8.646e-05	0	0.0006	0.0009	0.0011	0.0002	0.0004657	72	154602	rs760268240	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	2.994e-05	0.0002	0	0	0.0005	0.0002	0.0007	0.0004	0.0003	0.0004	0.0004	0.0004	0.0005	0.0007	0.0004	0.0003	0.0004	0.0004	0.0002	0	0.0007	0	0	0.0008	0.0034	0.0006	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2196.94	130	chr15	45265138	.	C	CA	2196.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.357e+00;DP=824;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.90;ReadPosRankSum=-3.850e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/1:60,70:130:99:2211,0,1850	20	0	1	0
chr15	61954420	61954420	C	T	splicing	VPS13C	NM_020821:exon38:c.4299+1G>A;NM_017684:exon36:c.4170+1G>A;NM_018080:exon36:c.4170+1G>A;NM_001018088:exon38:c.4299+1G>A	.	.	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.159	21.5	5.72	2.859	3.745	15.721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290887186	1.378e-06	1.368e-06	1.37e-06	1.386e-06	1.209e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.02e-07	0	1.209e-05	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550057	0.95802	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	6.592685	0.95453	35	0.99350346473621953	0.60574	0.89242	0.49589	D	AEFBI	.	.	.	1.10541559414863	0.98233	17.74342	0.967629749978471	0.97897	16.98603	0.994346817853429	0.33595	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.109871	0.03346	0	0.984129	0.91203	5.72	5.72	0.89380	3.304000	0.51572	7.669000	0.64672	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.721	0.77470	903	0.23940	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1024.98	79	chr15	61954420	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-1.192e+00;SOR=0.730	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1039,0,996	20	0	1	0
chr15	63342058	63342058	C	T	exonic	CA12	.	nonsynonymous SNV	CA12:NM_001293642:exon4:c.G289A:p.A97T	Hyperchlorhidrosis, isolated, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.921	P	0.14	B	0.580	N	1.000	N	1.53	L	-0.24	T	-0.900	T	0.153	T	0.146	0.914	8.719	3.2	0.409	-0.069	3.261	0.082	0.0273272729635	.	0.000199681	9.223e-05	0	0	0	0	1.519e-05	0	0.0006	8.41e-05	13	154602	rs569522889	3.968e-05	3.967e-05	3.676e-05	4.263e-05	0.0005	3.113e-05	2.847e-05	0.0004	0.0003	0	2.236e-05	0	0	0	0.0003	1.259e-05	0	0.0005	1.971e-05	1.969e-05	2.57e-05	1.344e-05	0.0004	5.24e-06	2.45e-06	7.312e-05	3.037e-05	0	0	0	0	0	0	0.0034	0	0	0.0004	0.033	0.46129	D	0.104	0.38160	T	0.864	0.51088	P	0.14	0.33554	B	0.579883	0.11154	N	0.827136	1	0.08975	N	0.95	0.23787	L	-0.24	0.66834	T	-0.9	0.24244	N	0.172	0.19728	-0.8996	0.48034	T	0.153	0.48257	T	10	0.03514391	0.01750	T	0.027327	0.50151	D	0.082	0.23913	0.505	0.59924	0.705763072862	0.70320	0.46199009956265125	0.46117	0.174233571796	0.19618	0.243249058723	0.03090	T	0.105757	0.41651	T	-0.42876	0.01508	T	-0.492866	0.23092	T	0.0318081338720186	0.02276	T	0.877212	0.59013	D	0.16607906	0.36921	0.09705972	0.23088	0.16607906	0.36920	0.09705972	0.23088	-4.765	0.34180	T	0.13869995536247845	0.15369	0.088	0.11510	B	.;.;.	.;.;.	1.696526	0.21614	15.27	0.96946022092459938	0.31719	0.08388	0.14324	N	AEFDGBHCI	0.067836	0.13355	N	-0.493001278243745	0.22309	1.190358	-0.602053681683109	0.19440	1.043019	0.999999999999956	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.3	3.2	0.35826	-0.168000	0.09914	0.115000	0.14837	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2431:0.4697:0.0:0.2872	3.261	0.06444	699	0.57969	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;.;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase 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	784.98	74	chr15	63342058	.	C	T	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.480e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=1.83;SOR=0.614	GT:AD:DP:GQ:PL	0/1:39,35:74:99:799,0,904	20	0	1	0
chr15	63600700	63600700	C	G	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon2:c.C357G:p.C119W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21805093	0.38436	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805919	0.45429	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.920	0.84176	P	.	.	4.808447	0.78192	26.9	0.64164387611019558	0.07419	0.65091	0.32622	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999983611	0.74766	0.199473	0.04044	0	0.073863	0.01883	0	0.215285	0.04585	0	0.088244	0.02422	0	0.268702	0.33603	4.4	2.5	0.29355	1.624000	0.36629	2.035000	0.30272	0.463000	0.21641	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.7034:0.0:0.2966	7.032	0.24152	634	0.64659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	32.22	3	chr15	63600700	.	C	G	32.22	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-9.670e-01;DP=63;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1269;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:28:40,0,28	11	0	1	9
chr15	69256032	69256032	G	A	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324091:exon3:c.G226A:p.A76T	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.629	P	0.124	B	0.001	D	0.994	D	0	N	1.43	T	-1.067	T	0.039	T	0.351	2.715	15.04	5.3	2.628	3.257	17.889	0.058	0.0067857423625	.	.	8.243e-06	0	8.682e-05	0	0	0	0	0	6.5e-06	1	154602	rs752780798	6.842e-07	6.841e-07	1.361e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	6.571e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.062	0.36912	T	0.61	0.16086	T	0.629	0.40170	P	0.124	0.32546	B	0.000506	0.43753	D	0.229124	0.989384	0.42120	D	1.95	0.52479	M	1.43	0.32958	T	0.25	0.04456	N	0.126	0.19190	-1.0665	0.10200	T	0.039	0.16763	T	10	0.09624064	0.17249	T	0.006786	0.17925	T	0.058	0.16647	0.135	0.03920	0.428630128466	0.42480	0.4579968576151879	0.45717	0.471192014707	0.46391	0.368964016438	0.20683	T	0.305907	0.67814	T	-0.168364	0.25483	T	-0.396755	0.33762	T	0.341625619634116	0.26688	T	0.761424	0.38629	T	0.15783668	0.35542	0.10905902	0.26279	0.15783668	0.35542	0.10905902	0.26278	-3.498	0.16403	T	.	.	0.072	0.07554	B	.;.	.;.	2.092058	0.26615	17.18	0.99539391228416541	0.70398	0.97393	0.74464	D	AEFDGBHI	0.316869	0.42103	N	0.00644386791645452	0.42149	2.534068	0.166657440938655	0.48031	3.024678	0.999999999270013	0.74766	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.122000	0.57661	4.414000	0.43291	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	17.889	0.88783	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2531.98	155	chr15	69256032	.	G	A	2531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=965;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.34;ReadPosRankSum=-2.560e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:68,87:155:99:2546,0,1706	20	0	1	0
chr15	73704421	73704421	G	C	exonic	CD276	.	nonsynonymous SNV	CD276:NM_001329628:exon4:c.G664C:p.V222L	.	.	417	1104	1	0	0	1	0.000452694	.	.	2287966	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.357	B	0.204	B	0.001	N	0.994	D	2.175	M	1.59	T	-0.990	T	0.097	T	0.517	2.208	13.34	4.32	1.952	3.295	14.585	0.142	0.0128482312187	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767540312	6.842e-06	6.84e-06	4.084e-06	9.627e-06	0.0002	3.46e-06	2.52e-06	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	9.935e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.36509	T	0.132	0.34477	T	0.098	0.33788	B	0.174	0.37039	B	0.001087	0.40303	N	0.222685	0.994418	0.42273	D	1	0.25136	L	1.59	0.28836	T	-0.88	0.29525	N	0.43	0.46928	-0.9902	0.32551	T	0.097	0.36393	T	10	0.28934377	0.46515	T	0.012848	0.31779	T	0.142	0.37995	0.725	0.85937	0.215869574891	0.21205	0.4037020066022195	0.40286	0.191367977959	0.21462	0.707031667233	0.68163	T	0.101	0.40695	T	-0.0967778	0.36958	T	-0.376791	0.36096	T	0.283476546854088	0.24317	T	0.911409	0.80370	D	0.12450238	0.29209	0.12032994	0.29040	0.12450238	0.29209	0.12032994	0.29039	-7.77	0.59561	D	.	.	0.256	0.50545	B	.;.;.;.;.	.;.;.;.;.	3.251617	0.44434	21.9	0.98931734854829845	0.48769	0.80343	0.40006	D	AEFGBCI	0.486685	0.52575	N	0.0805872796467599	0.45557	2.810311	0.160749792000336	0.47716	2.99755	0.999996151021929	0.74766	0.706548	0.73137	0	0.071	0.01855	3	0.554053	0.18673	1	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	3.454000	0.52750	11.725000	0.94886	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	14.585	0.67909	800	0.44535	Immunoglobulin-like domain|Immunoglobulin C1-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin C1-set|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	2067.98	135	chr15	73704421	.	G	C	2067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.010e-01;DP=848;ExcessHet=0.0000;FS=4.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=1.19;QD=15.32;ReadPosRankSum=-4.280e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/1:57,78:135:99:2082,0,1507	20	0	1	0
chr15	82345005	82345005	T	0	exonic	GOLGA6L10	.	.	.	.	.	50	129	12	1	34	48	0.0514706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	40.9	8	chr15	82345005	.	T	C,*	40.9	.	AC=1,5;AF=0.038,0.192;AN=26;BaseQRankSum=0.967;DP=1706;ExcessHet=2.4752;FS=28.441;InbreedingCoeff=-0.0786;MLEAC=1,7;MLEAF=0.038,0.269;MQ=32.71;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-9.670e-01;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,3,0:8:52:.:.:52,0,113,52,124,185	7	0	1	8
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:100,0,18:118:99:.:.:296,602,4695,0,4062,4007	11	0	5	2
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:100,0,18:118:99:.:.:296,602,4695,0,4062,4007	11	0	5	2
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1995.03	118	chr15	82345087	.	C	T,*	1995.03	.	AC=3,4;AF=0.083,0.111;AN=36;BaseQRankSum=0.682;DP=2432;ExcessHet=2.7391;FS=0.630;InbreedingCoeff=-0.2500;MLEAC=3,4;MLEAF=0.083,0.111;MQ=38.42;MQRankSum=-1.259e+00;QD=2.52;ReadPosRankSum=-2.066e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:100,0,18:118:99:.:.:296,602,4695,0,4062,4007	11	0	3	3
chr15	82786868	82786870	CTT	-	exonic	FSD2	.	nonframeshift deletion	FSD2:NM_001007122:exon2:c.521_523del:p.E174del	.	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	.	0.0012	0.0008	0.0003	0.0002	0.0003	0.0019	0.0022	0.0003	0.0006916	18	26028	rs778690406	0.0022	0.0022	0.0023	0.0021	0.0027	0.0021	0.0021	0.0026	0.0025	0.0006	0.0008	3.826e-05	0.0003	0.0010	0.0024	0.0027	0.0017	0.0003	0.0016	0.0016	0.0017	0.0016	0.0027	0.0015	0.0014	0.0024	0.0022	0.0007	0	0.0010	0.0003	0.0002	0.0008	0	0.0027	0.0033	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2715.94	148	chr15	82786867	.	GCTT	G	2715.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=863;ExcessHet=0.0000;FS=8.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.35;ReadPosRankSum=0.498;SOR=0.576	GT:AD:DP:GQ:PL	0/1:77,71:148:99:2730,0,2983	20	0	1	0
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|1:24,8:32:99:0|1:84240169_A_G:222,0,985:84240169	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	0/2:107,0,28:139:99:.:.:484,857,5936,0,4439,4868	8	0	5	0
chr15	84799209	84799209	G	A	exonic	ZNF592	.	nonsynonymous SNV	ZNF592:NM_014630:exon9:c.G3136A:p.G1046R,	.	.	2	1519	1	0	0	1	0.000329056	0.7041	0.42	15043	Galloway-Mowat_syndrome_1	MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.36	B	0.042	B	0.000	D	0.821	D	0.485	N	0.69	T	-1.023	T	0.056	T	0.829	2.884	15.61	4.35	2.479	4.657	7.163	0.165	0.0106465858211	7.7e-05	.	0.0001	9.621e-05	0	0	0	0.0002	0	0	0.0001229	19	154602	rs150829393	0.0001	0.0001	9.937e-05	0.0001	0.0014	8.915e-05	8.399e-05	0.0007	0.0005	0.0002	0	7.653e-05	0	5.616e-05	0.0014	0.0001	0.0002	1.159e-05	9.2e-05	9.194e-05	0.0002	2.691e-05	0.0002	5.528e-05	4.365e-05	9.047e-05	7.011e-05	2.414e-05	0	0	0	0	9.422e-05	0	0.0002	0.0005	0	0.162	0.23541	T	0.416	0.14284	T	0.36	0.33860	B	0.042	0.24114	B	0.000101	0.51296	D	0.184994	0.820526	0.34769	A	-0.46	0.02758	N	0.69	0.51714	T	0.74	0.02038	N	0.605	0.88577	-1.0234	0.22606	T	0.056	0.23715	T	10	0.2516362	0.42506	T	0.010647	0.27430	T	0.165	0.42395	0.24	0.17218	0.647156567392	0.64423	0.48241838259034975	0.48161	0.386426494922	0.39930	0.668430089951	0.62614	T	0.023694	0.18043	T	-0.0964171	0.37016	T	-0.0841241	0.64602	T	0.0267632236356695	0.01511	T	0.759024	0.38317	T	0.05531942	0.10735	0.069089495	0.14511	0.05531942	0.10735	0.069089495	0.14510	-7.343	0.56501	T	.	.	0.247	0.48177	B	.;.	.;.	4.767751	0.77149	26.6	0.99849336934462751	0.92925	0.92157	0.55071	D	AEFBCI	0.750795	0.69180	D	-0.0733884724783477	0.38563	2.260479	0.105026715444279	0.44804	2.75521	0.993206091969954	0.33125	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.35	0.51454	2.650000	0.46329	4.739000	0.44596	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.1521:0.6117:0.2362	7.163	0.24851	662	0.61715	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	2437.98	167	chr15	84799209	.	G	A	2437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.538;DP=917;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-2.510e-01;SOR=0.475	GT:AD:DP:GQ:PL	0/1:74,93:167:99:2452,0,1819	20	0	1	0
chr15	84857335	84857335	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C2597T:p.T866M,	.	.	424	1094	4	0	0	4	0.00182482	.	.	505440	not_specified|ALPK3-related_disorder|Cardiovascular_phenotype|not_provided	MedGen:CN169374|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.04	D	0.865	P	0.226	B	0.000	N	1.000	N	0.805	L	0.11	T	-0.949	T	0.063	T	0.076	2.184	13.26	-1.06	0.139	-0.413	6.352	0.142	.	0.0047	0.00479233	0.0014	0.0134	0.0008	0	0	0.0003	0.0011	0.0001	0.0013519	209	154602	rs35292668	0.0006	0.0006	0.0006	0.0005	0.0140	0.0005	0.0005	0.0130	0.0125	0.0140	0.0008	0	0	1.874e-05	0.0047	0.0002	0.0012	0.0002	0.0036	0.0035	0.0036	0.0035	0.0116	0.0033	0.0032	0.0108	0.0104	0.0116	0	0.0017	0	0	9.413e-05	0.0034	0.0003	0.0033	0.0002	0.009	0.57480	D	0.051	0.47828	T	0.865	0.47557	P	0.226	0.38054	B	0.000039	0.00387	N	5.155910	1	0.08975	N	1.845	0.48678	L	0.11	0.61208	T	-1.4	0.34596	N	0.154	0.15888	-0.9494	0.41075	T	0.063	0.26172	T	10	0.00322631	0.00055	T	.	.	.	0.142	0.37995	.	.	0.610759318428	0.60762	0.17659237845402675	0.17578	0.363144066244	0.37948	0.335167109966	0.15713	T	0.007655	0.07052	T	-0.559742	0.00255	T	-0.565776	0.15838	T	0.0340019972115947	0.02638	T	0.59464	0.22023	T	0.026841305	0.01794	0.0495533	0.07596	0.026841305	0.01793	0.0495533	0.07596	-4.782	0.34380	T	.	.	0.110	0.21163	B	.	.	1.197186	0.15889	12.17	0.98762816520473795	0.45847	0.07424	0.13443	N	AEFDBHCI	0.077894	0.15703	N	-0.661635705175023	0.17122	0.8783767	-0.803789389769946	0.14404	0.7524272	0.957007947527556	0.28279	0.706548	0.73137	0	0.610034	0.51514	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	4.76	-1.06	0.09491	-0.451000	0.06869	-0.089000	0.12081	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.3128:0.4947:0.1925	6.352	0.20588	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1112.98	86	chr15	84857335	.	C	T	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=853;ExcessHet=0.0000;FS=0.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=1.27;SOR=0.538	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1127,0,1097	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	1/1:0,115,0:115:99:3671,345,0,3671,345,3671	0	11	9	0
chr15	86262866	86262866	T	C	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon10:c.T1058C:p.M353T,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.867	P	0.463	P	0.000	D	0.736	N	2.135	M	2.85	T	-0.769	T	0.144	T	0.485	1.426	10.71	4.36	0.885	5.520	12.117	0.135	0.0225064694165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232522856	1.382e-06	1.096e-05	1.374e-06	1.389e-06	1.182e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.078e-07	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.791	0.44643	P	0.15	0.34161	B	0.000431	0.44522	D	0.244651	0.73612	0.29781	N	2.34	0.67151	M	.	.	.	.	.	.	.	.	-0.7689	0.56918	T	0.144	0.46623	T	10	0.3978079	0.55352	T	0.022506	0.45406	T	0.135	0.36572	0.288	0.24761	0.350964488264	0.34705	0.3220213190486209	0.32115	0.0118701311964	0.01121	0.431409180164	0.29401	T	0.018676	0.15012	T	-0.13799	0.30211	T	-0.330704	0.41391	T	0.701831459999084	0.40806	D	0.751225	0.37284	T	0.1695493	0.37479	0.3762269	0.62749	0.1695493	0.37478	0.3762269	0.62749	.	.	.	.	.	0.455	0.69456	A	.;.	.;.	2.703601	0.35325	19.87	0.97119274614771356	0.32447	0.97689	0.76430	D	AEFI	0.684393	0.64675	D	0.186503835777567	0.50551	3.244031	0.174009336101292	0.48427	3.058835	0.953360065301986	0.28069	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	4.36	0.51643	5.703000	0.67994	5.070000	0.47169	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:0.0:0.1431:0.8569	12.117	0.53172	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	131.1	90	chr15	86262866	.	T	C	131.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.055e+00;DP=1321;ExcessHet=0.1072;FS=121.526;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.08;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,14:90:26:0|1:86262866_T_C:26,0,2652:86262866	19	0	2	0
chr15	86262867	86262867	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon10:c.G1059A:p.M353I,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.617	P	0.242	B	0.000	D	0.642	N	2.135	M	2.92	T	-0.748	T	0.127	T	0.34	1.463	10.84	5.5	2.578	2.277	13.378	0.096	0.0201173805675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866857305	6.876e-07	2.053e-06	1.367e-06	0	2.999e-05	0	0	.	.	2.999e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.36807	P	0.057	0.26280	B	0.000431	0.44522	D	0.244651	0.641972	0.30608	N	2.34	0.67151	M	.	.	.	.	.	.	.	.	-0.7477	0.58055	T	0.127	0.43462	T	10	0.3451473	0.51494	T	0.020117	0.42647	T	0.096	0.27654	0.336	0.32491	0.345859378078	0.34197	0.1783097779329804	0.17749	0.010741408872	0.00990	0.362168550491	0.19702	T	0.029575	0.21161	T	-0.135658	0.30584	T	-0.43264	0.29636	T	0.74590927362442	0.43058	D	0.844715	0.52235	T	0.30360717	0.53226	0.42711985	0.66467	0.30360717	0.53227	0.42711985	0.66467	.	.	.	.	.	0.54	0.74232	A	.;.	.;.	2.826069	0.37245	20.4	0.99212663506296006	0.55655	0.91102	0.52864	D	AEFI	0.434504	0.49552	N	0.112744732671943	0.47055	2.936776	0.169067475961984	0.48160	3.035824	0.728346301735861	0.23014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	2.324000	0.43491	6.634000	0.56161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:0.0:0.8429:0.1571	13.378	0.60194	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	224.91	90	chr15	86262867	.	G	A	224.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.793e+00;DP=1376;ExcessHet=0.6776;FS=121.756;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.46;ReadPosRankSum=0.486;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,14:90:26:0|1:86262866_T_C:26,0,2652:86262866	17	0	4	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:43,32,0,0:79:99:1008,0,1514,1183,1635,2954,1183,1635,2954,2954	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	0/1:43,32,0,0:79:99:1008,0,1514,1183,1635,2954,1183,1635,2954,2954	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	0/1:43,32,0,0:79:99:1008,0,1514,1183,1635,2954,1183,1635,2954,2954	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|2:0,28,21:49:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2040,800,727,1172,0,1113:89776889	0	0	0	0
chr15	90441622	90441622	T	G	exonic	IQGAP1	.	nonsynonymous SNV	IQGAP1:NM_003870:exon8:c.T766G:p.S256A,	.	.	428	1081	13	0	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.002	B	0.009	N	1.000	D	0.375	N	1.11	T	-1.067	T	0.032	T	0.099	-0.127	3.376	3.82	0.912	1.112	4.764	0.061	.	0.0086	0.00219649	0.0074	0.0019	0.0018	0	0.0051	0.0115	0.0077	0.0033	0.0075031	1160	154602	rs12324924	0.0099	0.0099	0.0101	0.0097	0.0117	0.0098	0.0097	0.0115	0.0114	0.0016	0.0032	0.0041	0	0.0059	0.0021	0.0117	0.0097	0.0033	0.0071	0.0071	0.0074	0.0067	0.0111	0.0067	0.0066	0.0104	0.0102	0.0021	0	0.0090	0.0052	0	0.0047	0	0.0111	0.0066	0.0027	0.904	0.02401	T	0.66	0.06511	T	0.0	0.02946	B	0.002	0.06944	B	0.008998	0.30568	N	0.358231	1	0.81001	D	1.01	0.25309	L	1.11	0.38883	T	-0.77	0.21429	N	0.275	0.31140	-1.0667	0.10154	T	0.032	0.13723	T	10	0.0030476153	0.00050	T	.	.	.	0.061	0.17616	.	.	0.340919117937	0.33698	0.1474818988703152	0.14670	0.100179550336	0.11320	0.388379395008	0.23441	T	0.178363	0.52899	T	-0.576984	0.00201	T	-0.592179	0.13478	T	0.00353934327912724	0.00037	T	0.154585	0.01346	T	0.03965655	0.05518	0.02898071	0.01188	0.03965655	0.05517	0.02898071	0.01187	-2.672	0.07071	T	.	.	0.056	0.00496	B	.	.	2.006997	0.25502	16.79	0.57376902574710298	0.05756	0.38396	0.25979	N	AEFBI	0.095431	0.19282	N	-0.671627635209906	0.16833	0.8611086	-0.502619960178538	0.22082	1.197639	0.429567819686278	0.20359	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	4.93	3.82	0.43153	0.861000	0.27540	0.284000	0.16799	0.665000	0.62972	0.025000	0.20085	0.068000	0.22166	0.996000	0.76049	0.166:0.0895:0.0:0.7445	4.764	0.12494	837	0.37933	.	.	.	.	.	rs12324924	Uncertain significance	0	0	0	0	0	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	1428.98	114	chr15	90441622	.	T	G	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=840;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=1.75;SOR=0.804	GT:AD:DP:GQ:PL	0/1:53,61:114:99:1443,0,1225	20	0	1	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/3:48,4,0,24:76:99:810,831,3212,994,3008,3108,0,1782,1930,1795	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/3:48,4,0,24:76:99:810,831,3212,994,3008,3108,0,1782,1930,1795	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/3:48,4,0,24:76:99:810,831,3212,994,3008,3108,0,1782,1930,1795	8	2	8	0
chr15	100456011	100456011	T	C	exonic	CERS3	.	nonsynonymous SNV	CERS3:NM_001378789:exon11:c.A881G:p.H294R	Ichthyosis, congenital, autosomal recessive 9, Autosomal recessive	.	439	1045	36	2	0	40	0.0187793	.	.	1168314	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.33	T	0.004	B	0.003	B	0.049	N	1.000	N	-0.695	N	-1.87	D	-1.006	T	0.045	T	0.2	0.547	6.959	5.66	2.157	1.967	12.284	0.237	.	0.0024	0.0185703	0.0103	0.0053	0.0556	0.0111	0	0.0012	0.0044	0.0221	0.0103362	1598	154602	rs114065539	0.0045	0.0045	0.0042	0.0048	0.0610	0.0044	0.0044	0.0591	0.0583	0.0038	0.0610	0.0020	0.0104	0	0.0096	0.0008	0.0071	0.0226	0.0082	0.0082	0.0073	0.0091	0.0491	0.0078	0.0076	0.0462	0.0450	0.0049	0	0.0491	0.0017	0.0118	0	0.0034	0.0012	0.0137	0.0236	0.322	0.13479	T	0.304	0.20100	T	0.004	0.12183	B	0.003	0.08700	B	0.049068	0.23194	N	0.463226	1	0.08975	N	-0.205	0.04094	N	-1.87	0.84415	D	-1.04	0.27259	N	0.13	0.12484	-1.0063	0.28065	T	0.045	0.19518	T	10	0.004370272	0.00089	T	.	.	.	0.237	0.54074	.	.	.	.	0.24044158694867285	0.23958	0.155856096555	0.17590	0.428422182798	0.28993	T	0.178777	0.52954	T	-0.444213	0.01222	T	-0.362179	0.37800	T	0.014153291741859	0.00277	T	0.158484	0.01410	T	0.10032456	0.23688	0.09860937	0.23514	0.10527182	0.24889	0.09860937	0.23514	-2.74	0.07645	T	0.10677460984451233	0.08618	0.076	0.05756	B	.;.;.	.;.;.	2.400406	0.30838	18.56	0.87877597731952883	0.17549	0.31874	0.24446	N	AEFGBI	0.077620	0.15643	N	-0.56008305979443	0.20168	1.061251	-0.36937976478449	0.25915	1.428153	0.0952573484991105	0.16223	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	2.151000	0.41888	6.209000	0.54989	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.694000	0.33958	0.0:0.0:0.0:1.0	12.284	0.54102	970	0.06235	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1429	5162.03	108	chr15	100456011	.	T	C	5162.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.319e+00;DP=1107;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=0.236;SOR=0.699	GT:AD:DP:GQ:PL	0/1:60,48:108:99:989,0,1473	15	0	6	0
chr16	426430	426430	C	G	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001370401:exon1:c.C424G:p.P142A	.	.	426	1052	44	0	0	44	0.0204842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.024	T	0.012	T	0.051	1.094	9.465	-5.25	-1.714	-1.094	4.337	0.006	.	0.0046	0.0131789	0.0127	0.0416	0.0086	0.0115	0	0.0074	0.0042	0.0157	0.0046248	715	154602	rs181591879	0.0044	0.0044	0.0041	0.0046	0.0223	0.0043	0.0042	0.0211	0.0206	0.0181	0.0028	0.0082	0.0223	0.0014	0.0114	0.0027	0.0058	0.0124	0.0084	0.0084	0.0086	0.0082	0.0187	0.0080	0.0079	0.0177	0.0172	0.0187	0.0384	0.0040	0.0101	0.0119	0.0010	0.0274	0.0032	0.0061	0.0112	0.228	0.30097	T	0.242	0.24264	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.71	0.21644	N	0.048	0.01999	-1.0245	0.22246	T	0.012	0.04463	T	8	0.0030046105	0.00049	T	.	.	.	0.006	0.00375	.	.	0.102598925029	0.09809	0.1728067348510978	0.17200	0.989507635279	0.74020	0.423449724913	0.28312	T	0.007064	0.08010	T	-0.707651	0.00033	T	-0.773012	0.02670	T	0.00111585305542652	0.00011	T	.	.	.	0.04552668	0.07468	0.032954417	0.02112	0.04552668	0.07468	0.032954417	0.02112	-3.315	0.13932	T	.	.	0.053	0.00259	B	.;.	.;.	-1.276361	0.00458	0.010	0.58095512191038035	0.05915	0.02685	0.07319	N	AEFDBCIJ	0.036268	0.04805	N	-1.53237510094476	0.01640	0.07173305	-1.61767532201568	0.01551	0.07030326	0.999999086423531	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	2.63	-5.25	0.02567	-3.580000	0.00474	-3.713000	0.02587	-1.310000	0.01236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3572:0.3646:0.2782	4.337	0.10529	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	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	6548.66	142	chr16	426430	.	C	G	6548.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.545e+00;DP=975;ExcessHet=0.0000;FS=1.820;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.61;ReadPosRankSum=0.544;SOR=0.563	GT:AD:DP:GQ:PL	0/1:58,84:142:99:1890,0,1343	19	1	1	0
chr16	1346908	1346908	C	T	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon27:c.C2596T:p.R866C	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.997	D	0.729	P	0.496	N	1.000	D	2.175	M	-0.98	T	-0.450	T	0.451	T	0.402	1.573	11.22	0.85	0.395	0.556	6.688	0.359	0.0821646897228	0.0002	0.000599042	0.0004	0	0.0006	0	0	0.0005	0	0.0003	0.0003169	49	154602	rs116274850	0.0005	0.0005	0.0005	0.0005	0.0008	0.0005	0.0004	0.0006	0.0005	8.963e-05	0.0008	7.656e-05	0	3.892e-05	0.0005	0.0006	0.0004	0.0001	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0020	0.0018	4.813e-05	0	0.0027	0	0	0	0	0.0007	0	0.0004	0.052	0.39097	T	0.016	0.60972	D	0.997	0.70673	D	0.729	0.55225	P	0.496241	0.05065	N	1.421560	0.999934	0.51612	D	1.73	0.44655	L	-0.98	0.75789	T	-3.61	0.69477	D	0.424	0.46368	-0.4495	0.70417	T	0.451	0.78520	T	10	0.04711619	0.03987	T	0.082165	0.73840	D	0.359	0.67962	.	.	0.824980720029	0.82332	0.26559136553935786	0.26472	0.376668924193	0.39101	0.480328381062	0.36102	T	0.194118	0.54980	T	-0.305569	0.08145	T	-0.293488	0.45409	T	0.0884371708955625	0.11030	T	0.879712	0.59601	D	0.10100665	0.23855	0.09175956	0.21590	0.10100665	0.23854	0.09175956	0.21589	-8.29	0.64184	D	.	.	0.086	0.16275	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.849300	0.37614	20.5	0.99649802760957107	0.77192	0.41677	0.26710	N	AEFDBHCI	0.252190	0.37192	N	-0.220396396350516	0.32298	1.819962	-0.424824769252851	0.24271	1.328179	0.999996724761211	0.74766	0.653496	0.48692	0	0.550933	0.16991	0	0.596874	0.31795	0	0.664235	0.64389	0	.	.	4.42	0.85	0.18119	-0.371000	0.07569	1.305000	0.25500	0.599000	0.40250	0.000000	0.06391	0.834000	0.27239	0.003000	0.05239	0.5796:0.2918:0.1286:0.0	6.688	0.22345	862	0.33134	.;.;.;.;Mammalian uncoordinated homology 13, domain 2;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1232.98	110	chr16	1346908	.	C	T	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-4.570e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1247,0,1405	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:2162,760,642,586,0,426:1397263	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	0/1:8,7,0,0:15:99:261,0,303,285,325,609,285,325,609,609	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	0/1:8,7,0,0:15:99:261,0,303,285,325,609,285,325,609,609	12	1	6	0
chr16	1518220	1518220	T	G	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon30:c.A4178C:p.Q1393P,	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.01	B	0.008	B	0.059	N	0.999	D	1.32	L	1.48	T	-0.912	T	0.162	T	0.638	2.922	15.74	4.68	1.743	5.972	14.132	0.207	0.0401979175985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.264	0.59732	T	0.01	0.15535	B	0.008	0.13708	B	0.058663	0.22384	N	0.398391	0.998496	0.45620	D	1.7	0.43825	L	1.48	0.58755	T	-1.85	0.43334	N	0.681	0.69300	-0.9116	0.46657	T	0.162	0.49731	T	10	0.45926154	0.59183	T	0.040198	0.59241	D	0.207	0.49555	0.523	0.62668	0.711946693247	0.70942	0.6734111730957614	0.67279	0.0901911323715	0.10174	0.319820165634	0.13394	T	0.013612	0.39186	T	0.0338565	0.56235	T	-0.189144	0.55671	T	0.862023293972015	0.51236	D	0.470053	0.13966	T	0.4943921	0.66764	0.30768535	0.56789	0.4943921	0.66765	0.30768535	0.56789	-4.362	0.29037	T	0.2354730228635941	0.31884	0.081	0.11606	B	.;.;.	.;.;.	2.706477	0.35366	19.88	0.99102379390544693	0.52496	0.97663	0.76248	D	AEFBHCI	0.823748	0.74379	D	-0.140784084576799	0.35627	2.048869	-0.0118988806091032	0.39176	2.318918	0.999926375289998	0.46280	0.615465	0.37627	0	0.633656	0.55848	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	4.68	4.68	0.58319	5.953000	0.70008	2.809000	0.34897	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.330000	0.25202	0.0:0.0:0.0:1.0	14.132	0.64793	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	78	chr16	1518220	.	T	G	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-01;DP=807;ExcessHet=0.0000;FS=6.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=-9.240e-01;QD=11.32;ReadPosRankSum=-1.161e+00;SOR=1.422	GT:AD:DP:GQ:PL	0/1:37,41:78:99:897,0,906	20	0	1	0
chr16	1791996	1791996	G	A	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.C536T:p.T179M	Acid-labile subunit, deficiency of	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.99	D	0.815	P	0.001	N	1.000	D	0.725	N	-1.35	T	-0.439	T	0.402	T	0.166	1.632	11.41	3.87	0.818	4.959	9.832	0.409	0.332653174429	.	.	2.406e-05	0	0	0	0	4.314e-05	0	0	1.29e-05	2	154602	rs776277033	2.541e-05	2.599e-05	2.596e-05	2.485e-05	3.151e-05	1.875e-05	1.637e-05	2.287e-05	2.024e-05	0	0	0	0	0	0	3.151e-05	3.322e-05	0	1.314e-05	1.313e-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	0.101	0.30656	T	0.058	0.50514	T	0.99	0.63424	D	0.815	0.58847	P	0.001415	0.39109	N	0.252757	1	0.81001	D	1.735	0.44892	L	-1.35	0.80035	T	-2.21	0.49684	N	0.38	0.42149	-0.4386	0.70777	T	0.402	0.75295	T	10	0.56024384	0.64747	D	0.332653	0.91795	D	0.409	0.72099	0.456	0.52102	0.93180314706	0.93110	0.4050409918251559	0.40420	0.278002253386	0.30281	0.375663727522	0.21640	T	0.300074	0.67258	T	-0.0569059	0.43390	T	-0.243278	0.50479	T	0.818901538848877	0.47691	D	0.79532	0.43818	T	0.038436823	0.05121	0.113922454	0.27496	0.038436823	0.05121	0.113922454	0.27495	-7.308	0.56253	T	0.5540977274659553	0.62239	0.132	0.33504	B	.;.	.;.	3.330892	0.45857	22.2	0.99365908632615862	0.61198	0.74405	0.36398	D	AEFDBCI	0.532081	0.55210	D	-0.0285620034366801	0.40564	2.411179	-0.11426829520883	0.34813	2.006902	0.999943410017583	0.47345	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.09	3.87	0.43823	5.023000	0.63858	6.518000	0.55825	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.1338:0.0:0.8661:0.0	9.832	0.40114	565	0.70868	.;.	.	.	.	.	.	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	1036.98	102	chr16	1791996	.	G	A	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=1675;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.932;SOR=0.720	GT:AD:DP:GQ:PL	0/1:60,42:102:99:1051,0,1442	20	0	1	0
chr16	2762561	2762561	G	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.G2033T:p.S678I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.61	P	0.193	B	0.394	N	1.000	N	0.345	N	1.8	T	-1.054	T	0.040	T	0.206	0.125	4.672	4.1	2.187	4.494	14.638	0.072	0.00495417486105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482416063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.42261	T	0.61	0.39628	P	0.193	0.36509	B	0.394407	0.13210	N	0.657383	0.999649	0.20796	N	0.345	0.11182	N	1.8	0.25996	T	-2.18	0.49187	N	0.26	0.29429	-1.0545	0.13172	T	0.040	0.17362	T	10	0.21033525	0.37425	T	0.004954	0.12473	T	0.072	0.21020	0.352	0.35084	0.328486982098	0.32448	0.17139119644757989	0.17059	.	.	0.665354847908	0.62175	T	0.196538	0.55295	T	-0.209903	0.19392	T	-0.539288	0.18365	T	0.267624050378799	0.23645	T	0.729427	0.34485	T	0.45711476	0.64491	0.2733607	0.53255	0.45711476	0.64492	0.2733607	0.53254	-10.108	0.74556	D	.	.	0.366	0.57616	A	.;.;.	.;.;.	2.984733	0.39824	21.0	0.70345524999784848	0.09265	0.56934	0.30245	D	AEFDGBHCI	0.532023	0.55206	D	-0.261239440043942	0.30657	1.711452	-0.262230503151596	0.29354	1.643837	0.999999999995363	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.1	4.1	0.47196	3.684000	0.54403	6.714000	0.56410	0.676000	0.76740	0.444000	0.26519	0.998000	0.33993	0.972000	0.54974	0.0:0.0:1.0:0.0	14.638	0.68304	789	0.46346	Spt5 C-terminal domain;Spt5 C-terminal domain;Spt5 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	2645.98	232	chr16	2762561	.	G	T	2645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1296;ExcessHet=0.0000;FS=1.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.417;SOR=0.593	GT:AD:DP:GQ:PL	0/1:133,99:232:99:2660,0,3610	20	0	1	0
chr16	3286033	3286033	G	T	exonic	ZNF263	.	nonsynonymous SNV	ZNF263:NM_005741:exon4:c.G653T:p.S218I,	.	.	430	1080	12	0	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.611	P	0.321	B	0.000	D	1.000	D	1.645	L	5.61	T	-0.549	T	0.004	T	0.535	1.666	11.53	3.93	2.813	0.682	8.270	0.161	0.0183412424533	0.0002	0.000199681	0.0005	0	0	0	0.0003	0.0003	0.0011	0.0019	0.0004075	63	154602	rs138244751	0.0003	0.0003	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	2.99e-05	0.0002	0	0	7.489e-05	0.0031	0.0003	0.0004	0.0016	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	4.813e-05	0	0.0003	0	0	9.416e-05	0	0.0003	0.0005	0.0006	0.155	0.24183	T	0.045	0.49390	D	0.611	0.39680	P	0.321	0.41760	B	0.000080	0.52346	D	0.085765	1	0.81001	D	1.785	0.46417	L	5.61	0.02815	T	-1.3	0.32590	N	0.561	0.58543	-0.5494	0.66810	T	0.004	0.01295	T	10	0.017996043	0.00388	T	0.018341	0.40371	T	0.161	0.41658	.	.	0.158396225186	0.15383	0.4583040756230298	0.45748	0.653526832731	0.58486	0.411833167076	0.26710	T	0.027615	0.20184	T	-0.437505	0.01338	T	-0.42585	0.30407	T	0.051810188323888	0.05815	T	0.360864	0.08314	T	0.14066775	0.32445	0.12769459	0.30733	0.14066775	0.32444	0.12769459	0.30732	-4.599	0.32159	T	.	.	0.230	0.46250	B	.;.	.;.	3.658033	0.51955	23.2	0.91048365863609571	0.20300	0.44354	0.27300	N	AEFDBCI	0.117475	0.23012	N	0.157606029343403	0.49173	3.120642	0.257122359927688	0.53055	3.476513	0.999958019948732	0.48110	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.96	3.93	0.44666	0.826000	0.27061	.	.	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.999000	0.91618	0.0:0.1801:0.6547:0.1652	8.270	0.30998	707	0.57054	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;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	874.98	90	chr16	3286033	.	G	T	874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.674;DP=806;ExcessHet=0.0000;FS=0.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=0.264;SOR=0.846	GT:AD:DP:GQ:PL	0/1:54,36:90:99:889,0,1403	20	0	1	0
chr16	3443135	3443135	T	C	exonic	ZNF597	.	nonsynonymous SNV	ZNF597:NM_152457:exon2:c.A19G:p.T7A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.002	B	0.005	B	0.668	N	1.000	N	0.595	N	3.28	T	-0.926	T	0.008	T	0.063	1.999	12.64	-5.33	-1.159	-1.178	0.899	0.009	0.00196795358674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.069	0.43913	T	0.002	0.09854	B	0.005	0.11217	B	0.667624	0.06017	N	1.194250	1	0.08975	N	1.075	0.27130	L	3.28	0.06523	T	-0.74	0.20791	N	0.194	0.21319	-0.9264	0.44659	T	0.008	0.02926	T	10	0.055649072	0.06116	T	0.001968	0.03535	T	0.009	0.00846	0.278	0.23164	0.112648838833	0.10856	0.12432443091957487	0.12358	0.0426198176388	0.04596	0.308933615685	0.11746	T	0.002873	0.02268	T	-0.402232	0.02239	T	-0.815555	0.01544	T	0.0718930810689926	0.08914	T	0.165683	0.01531	T	0.03335507	0.03538	0.030106364	0.01426	0.03335507	0.03538	0.030106364	0.01426	-3.08	0.11068	T	.	.	0.094	0.14431	B	.	.	0.012763	0.04370	1.125	0.88434883957459731	0.17974	0.03801	0.09131	N	AEFDBCI	0.063675	0.12319	N	-1.42077330979092	0.02456	0.1085077	-1.49570536276879	0.02379	0.1093233	0.999998881785166	0.74766	0.493124	0.18060	0	0.484254	0.07192	0	0.694767	0.63188	0	0.627883	0.49187	0	.	.	4.44	-5.33	0.02503	-0.992000	0.03835	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2586:0.32:0.1326:0.2887	0.899	0.01190	657	0.62240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2269.98	166	chr16	3443135	.	T	C	2269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=876;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.219;SOR=0.926	GT:AD:DP:GQ:PL	0/1:71,95:166:99:2284,0,1600	20	0	1	0
chr16	4192332	4192332	G	T	exonic	SRL	.	nonsynonymous SNV	SRL:NM_001098814:exon6:c.C1243A:p.L415M	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.911	P	0.465	P	0.001	U	1.000	D	1.245	L	1.51	T	-1.094	T	0.080	T	0.237	3.561	18.15	4.88	1.462	5.770	14.861	0.050	0.0066101636511	.	0.00179712	0.0008	0.0001	8.639e-05	0	0	0	0	0.0055	0.0006856	106	154602	rs575762035	0.0004	0.0004	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	2.987e-05	2.236e-05	0	0	0	0.0012	2.698e-06	0.0005	0.0055	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0047	0.0040	0	0	0	0	0	0	0	0	0	0.0064	0.078	0.33923	T	0.091	0.40267	T	0.911	0.50336	P	0.465	0.46596	P	0.001012	0.40652	U	0.169570	0.999588	0.47691	D	.	.	.	1.48	0.31731	T	-0.46	0.14978	N	0.321	0.37405	-1.0937	0.04944	T	0.080	0.31586	T	10	0.010005832	0.00224	T	0.00661	0.17444	T	0.050	0.13987	0.308	0.27967	0.330589388543	0.32661	0.3127647051030744	0.31189	0.535373621245	0.50907	0.71551656723	0.69394	T	.	.	.	-0.511098	0.00495	T	-0.505014	0.21828	T	0.0754750617825561	0.09398	T	0.957504	0.83996	D	.	.	.	.	.	.	.	.	-9.481	0.70741	D	.	.	0.087	0.11414	B	.;.	.;.	3.768828	0.54117	23.4	0.99481273238177803	0.66904	0.93420	0.58169	D	AEFBHCI	0.897147	0.83901	D	0.399077685447299	0.61374	4.337446	0.462115811243948	0.65499	4.831486	0.999993688726965	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.88	0.63131	5.882000	0.69458	8.637000	0.77877	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0688:0.0:0.9312:0.0	14.861	0.70017	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	2180.98	182	chr16	4192332	.	G	T	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.319;DP=943;ExcessHet=0.0000;FS=0.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.900e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:94,88:182:99:2195,0,2380	20	0	1	0
chr16	5084778	5084778	C	A	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_001330504:exon13:c.C959A:p.A320E	Congenital disorder of glycosylation, type Ik, Autosomal recessive	.	207	1304	10	1	0	12	0.00458015	.	.	1038442	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.006	B	0.005	B	0.844	N	1.000	N	0.63	N	-0.87	T	-0.970	T	0.176	T	0.205	-1.975	0.007	0.271	0.186	0.514	6.990	0.051	0.0392513883211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370439294	0	2.736e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.268e-05	0.0006	6.459e-05	8.115e-05	0.0002	3.993e-05	3.143e-05	9.657e-05	7.029e-05	0.0002	0	0	0	0	0	0	2.944e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.005	0.11217	B	0.844000	0.09012	N	0.933266	1	0.08975	N	1.01	0.25309	L	-0.87	0.74583	T	0.75	0.02099	N	0.07	0.04913	-0.9704	0.37115	T	0.176	0.52021	T	10	0.050075233	0.04687	T	0.039251	0.58699	D	0.051	0.14325	0.398	0.42590	0.569705540864	0.56636	0.3334758727207182	0.33260	1.36290245596	0.84381	0.335656493902	0.15787	T	0.037257	0.24409	T	-0.13319	0.30981	T	-0.429094	0.30037	T	0.0221786505885773	0.00930	T	0.289271	0.05243	T	0.038093913	0.05009	0.079438284	0.17883	0.038093913	0.05009	0.079438284	0.17883	-4.712	0.35509	T	0.0570100174691765	0.01359	0.106	0.19800	B	.;.;.	.;.;.	0.289681	0.06659	3.161	0.79965488561863474	0.12983	0.05878	0.11826	N	AEFCI	0.063648	0.12314	N	-1.25572321595909	0.04225	0.1902526	-1.21297390761187	0.05701	0.2723729	1.339514752108E-5	0.02871	0.706548	0.73137	0	0.702456	0.74545	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	5.05	0.271	0.14894	0.658000	0.24662	0.277000	0.16723	-0.849000	0.02733	0.187000	0.24151	0.001000	0.17328	0.096000	0.18090	0.2908:0.5493:0.0:0.1599	6.990	0.23933	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	0.04762	58.11	72	chr16	5084778	.	C	A	58.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.554e+00;DP=912;ExcessHet=0.1072;FS=0.816;InbreedingCoeff=-0.0497;MLEAC=2;MLEAF=0.048;MQ=55.98;MQRankSum=-5.364e+00;QD=0.40;ReadPosRankSum=-1.561e+00;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,11:72:61:.:.:61,0,1589	19	0	2	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	0/2:16,0,5,0,0:21:99:149,198,836,0,639,623,198,836,639,836,198,836,639,836,836	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	0/2:16,0,5,0,0:21:99:149,198,836,0,639,623,198,836,639,836,198,836,639,836,836	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	0/2:16,0,5,0,0:21:99:149,198,836,0,639,623,198,836,639,836,198,836,639,836,836	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,118,74:192:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:6076,2938,2805,3407,0,4646:11927441	2	11	4	0
chr16	12705045	12705045	C	A	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G294T:p.K98N,	.	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.002	B	0.026	B	0.053	N	1.000	N	-0.125	N	-0.34	T	-1.014	T	0.073	T	0.057	-0.504	1.690	-6.0	-0.793	-0.379	0.392	0.054	0.0127190188886	0.0015	0.000399361	0.0016	0.0003	0.0009	0	0	0.0015	0.0048	0.0056	0.00152	235	154602	rs202086201	0.0019	0.0019	0.0017	0.0020	0.0049	0.0018	0.0018	0.0046	0.0044	0.0003	0.0007	0.0040	2.53e-05	7.536e-05	0.0039	0.0018	0.0018	0.0049	0.0010	0.0010	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0032	0	0	0	0.0015	0.0024	0.0048	0.5	0.07746	T	0.459	0.12632	T	0.002	0.09854	B	0.026	0.20792	B	0.052743	0.22868	N	0.525817	1	0.08975	N	0.345	0.11182	N	-0.34	0.68474	T	0.21	0.04776	N	0.21	0.23380	-1.0138	0.25720	T	0.073	0.29419	T	10	0.007684499	0.00175	T	0.012719	0.31538	T	0.054	0.15330	0.339	0.32979	0.166414681773	0.16258	0.3220683058182097	0.32119	0.0593736532177	0.06593	0.248930960894	0.03655	T	0.053454	0.29448	T	-0.597813	0.00150	T	-0.631501	0.10301	T	0.00529313091275535	0.00057	T	0.672333	0.28093	T	0.058870483	0.11895	0.034599736	0.02555	0.058870483	0.11895	0.034599736	0.02555	-4.214	0.26954	T	.	.	0.168	0.37063	B	.	.	0.108745	0.05085	1.623	0.59658119888000238	0.06276	0.04133	0.09614	N	AEFBI	0.072485	0.14468	N	-1.48074510491322	0.01986	0.08722397	-1.50994360474112	0.02267	0.1040074	0.0115164754669255	0.12196	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	-6.0	0.02021	-0.836000	0.04489	-2.700000	0.03453	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.2611:0.1658:0.1926:0.3804	0.392	0.00383	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1774.11	62	chr16	12705045	.	C	A	1774.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.26;DP=822;ExcessHet=0.1072;FS=2.525;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.106;SOR=0.480	GT:AD:DP:GQ:PL	0/1:33,29:62:99:797,0,941	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	0/1:104,62:166:99:180,0,1771	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|1:4,3,0:7:75:0|1:14726155_C_A:75,0,140,87,148,235:14726155	8	2	7	3
chr16	14765358	14765358	A	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.A998G:p.K333R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0	N	2.27	T	-1.014	T	0.056	T	0.049	0.212	5.143	.	.	.	.	0.113	0.0277069225649	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758928005	2.072e-06	4.107e-06	2.75e-06	1.387e-06	0.0002	5.5e-07	1.5e-07	.	.	2.994e-05	0	0	0	0	0.0002	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.27	0.43672	T	-0.79	0.21860	N	0.073	0.04790	-1.0142	0.25593	T	0.056	0.23715	T	4	0.23170567	0.40150	T	0.027707	0.50487	D	0.113	0.31778	0.468	0.54052	0.117506650769	0.11410	0.00348586195369721	0.00325	.	.	.	.	.	0.015771	0.13166	T	-0.340099	0.05381	T	-0.726305	0.04497	T	0.068932934293145	0.08501	T	0.50295	0.15803	T	0.15085286	0.34322	0.12219969	0.29478	0.15085286	0.34322	0.12219969	0.29477	-5.106	0.37971	T	.	.	0.095	0.16099	B	.;.	.;.	1.145365	0.15330	11.77	0.94200639622873195	0.24434	0.00110	0.00700	N	AEFI	0.036072	0.04749	N	-0.32728962430058	0.28115	1.548104	-0.401362670535856	0.24957	1.369671	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.815000	0.01816	-0.197000	0.10982	-3.795000	0.00059	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	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	1970.98	193	chr16	14765358	.	A	G	1970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.695e+00;DP=915;ExcessHet=0.0000;FS=1.152;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.87;MQRankSum=-3.363e+00;QD=10.21;ReadPosRankSum=0.585;SOR=0.801	GT:AD:DP:GQ:PL	0/1:96,97:193:99:1985,0,2081	20	0	1	0
chr16	20348876	20348876	C	T	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon3:c.G425A:p.R142Q	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	.	2	1477	40	3	0	46	0.0153333	.	.	334154	Kidney_disorder|UMOD-related_disorder|not_provided|Familial_juvenile_hyperuricemic_nephropathy_type_1	Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|.|MedGen:C3661900|MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.126	B	0.041	B	0.000	N	1.000	N	0.645	N	-2.22	D	-0.568	T	0.422	T	0.159	1.322	10.34	-10.9	-3.595	-2.158	16.367	0.231	.	0.0005	0.00579073	0.0196	0.0006	0.0031	0.0023	0	0.0049	0	0.0372	0.0035122	543	154602	rs199835347	0.0031	0.0031	0.0022	0.0041	0.0346	0.0030	0.0030	0.0336	0.0331	0.0004	0.0006	0.0070	0.0008	2.154e-05	0.0049	0.0010	0.0033	0.0346	0.0017	0.0017	0.0013	0.0021	0.0296	0.0015	0.0015	0.0256	0.0241	0.0003	0	0.0007	0.0078	0.0010	0	0.0034	0.0009	0.0009	0.0296	0.297	0.14694	T	0.689	0.07244	T	0.007	0.14184	B	0.014	0.16862	B	0.000035	0.00348	N	4.838660	1	0.08975	N	0.46	0.12951	N	-2.22	0.91748	D	-0.15	0.09297	N	0.185	0.20129	-0.5677	0.66107	T	0.422	0.76704	T	10	0.004166931	0.00082	T	.	.	.	0.231	0.53208	.	.	0.0138822411134	0.00435	0.797193741351274	0.79672	1.03768003082	0.75667	0.197835445404	0.00396	T	.	.	.	-0.436857	0.01350	T	-0.374529	0.36360	T	0.0074865864671816	0.00086	T	0.915608	0.69895	D	0.030351104	0.02682	0.051519576	0.08307	0.031283624	0.02939	0.05204987	0.08500	-3.822	0.21134	T	.	.	0.072	0.04316	B	.;.;.;.	.;.;.;.	0.105025	0.05059	1.600	0.87211629175898653	0.17067	0.03428	0.08560	N	AEFDBCI	0.084496	0.17125	N	-1.67094729539648	0.00950	0.04114479	-1.78942199120481	0.00794	0.03541693	0.99999985470132	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.45	-10.9	0.00151	-3.185000	0.00626	-4.870000	0.01948	-0.221000	0.07976	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.734:0.0962:0.1697:0.0	16.367	0.83171	829	0.39537	.;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1416.98	89	chr16	20348876	.	C	T	1416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=897;ExcessHet=0.0000;FS=2.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.92;ReadPosRankSum=-7.700e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1431,0,943	20	0	1	0
chr16	20423939	20423939	C	T	exonic	ACSM5	.	nonsynonymous SNV	ACSM5:NM_001324371:exon6:c.C791T:p.S264F	.	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.984	D	0.003	N	1.000	N	1.76	L	0.69	T	-0.747	T	0.260	T	0.437	2.348	13.81	4.56	2.338	0.910	17.122	0.248	.	.	0.0103834	0.0051	0	0.0003	0.0006	0.0002	4.498e-05	0.0077	0.0365	0.0044566	689	154602	rs200180792	0.0022	0.0022	0.0012	0.0033	0.0351	0.0022	0.0021	0.0341	0.0337	0.0002	0.0002	0	0.0003	5.616e-05	0.0010	2.698e-05	0.0028	0.0351	0.0012	0.0013	0.0007	0.0019	0.0376	0.0011	0.0010	0.0331	0.0314	2.406e-05	0	0	0	0.0008	0	0	0	0.0019	0.0376	0.001	0.78490	D	0.004	0.74150	D	0.998	0.73220	D	0.984	0.76113	D	0.003156	0.35359	N	0.129596	0.999978	0.18612	N	3.51	0.92865	H	0.69	0.51714	T	-4.77	0.80425	D	0.551	0.57690	-0.7470	0.58092	T	0.260	0.63055	T	10	0.011149079	0.00245	T	.	.	.	0.248	0.55615	.	.	0.727048445308	0.72462	0.44911221308152977	0.44829	0.639214891415	0.57598	0.52651488781	0.42544	T	0.036553	0.24145	T	-0.379656	0.03132	T	-0.292363	0.45526	T	0.124570204253232	0.14871	T	0.906909	0.67118	D	0.6458907	0.75144	0.64319664	0.79147	0.6458907	0.75146	0.64319664	0.79148	-11.097	0.80187	D	.	.	0.197	0.41932	B	.	.	2.681005	0.34976	19.77	0.99756072813339469	0.84694	0.07276	0.13299	N	AEFBI	0.370420	0.45680	N	0.110406913369033	0.46948	2.927454	-0.0633629230332853	0.36918	2.154715	0.976711582793075	0.29751	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.56	4.56	0.55644	1.482000	0.35094	0.394000	0.17923	0.599000	0.40250	0.019000	0.19563	0.000000	0.08366	0.104000	0.18471	0.0:1.0:0.0:0.0	17.122	0.86581	809	0.43032	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2560.98	231	chr16	20423939	.	C	T	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.34;DP=930;ExcessHet=0.0000;FS=0.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.089;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,100:231:99:0|1:20423939_C_T:2575,0,3077:20423939	20	0	1	0
chr16	20437089	20437089	A	G	exonic	ACSM5	.	nonsynonymous SNV	ACSM5:NM_001324371:exon11:c.A1346G:p.D449G	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.029	B	0.079	B	0.020	N	1.000	D	0.715	N	1.38	T	-1.045	T	0.044	T	0.611	2.049	12.81	2.84	0.370	3.129	9.854	0.184	.	0.0011	.	0.0038	0.0034	0.0008	0.0113	0.0002	0.0003	0.0077	0.0178	0.0030401	470	154602	rs143897478	0.0009	0.0017	0.0008	0.0011	0.0162	0.0009	0.0009	0.0152	0.0148	0.0025	0.0004	7.652e-05	0.0162	1.872e-05	0.0007	9.714e-05	0.0010	0.0053	0.0014	0.0016	0.0015	0.0014	0.0110	0.0013	0.0012	0.0087	0.0079	0.0030	0	0.0003	0	0.0110	0	0	0.0002	0.0024	0.0019	0.108	0.29420	T	0.277	0.21880	T	0.029	0.19866	B	0.079	0.28749	B	0.020077	0.27119	N	0.329627	0.783004	0.34291	D	0.475	0.13142	N	1.38	0.34050	T	-4.57	0.78721	D	0.658	0.66787	-1.0454	0.15709	T	0.044	0.18742	T	10	0.014943123	0.00314	T	.	.	.	0.184	0.45763	.	.	0.504175077286	0.50056	0.60700632225438	0.60632	0.203973378292	0.22813	0.314309775829	0.12558	T	0.030226	0.21474	T	-0.413685	0.01879	T	-0.356618	0.38443	T	0.0468691450115969	0.04942	T	0.614838	0.23473	T	0.24999443	0.47998	0.3071594	0.56738	0.24999443	0.47998	0.3071594	0.56738	-9.015	0.67794	D	.	.	0.096	0.15520	B	.	.	2.499548	0.32263	18.99	0.98386881180898544	0.40915	0.83270	0.42401	D	AEFDI	0.811243	0.73428	D	-0.31507499031754	0.28575	1.577248	-0.165998940396704	0.32798	1.869492	0.00448293407195422	0.10581	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	2.84	0.32241	3.685000	0.54410	3.727000	0.39605	0.754000	0.88378	1.000000	0.71638	0.218000	0.23694	0.963000	0.52385	0.8774:0.0:0.1226:0.0	9.854	0.40246	804	0.43891	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	203.98	134	chr16	20437089	.	A	G	203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.948e+00;DP=1135;ExcessHet=0.0000;FS=4.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.72;MQRankSum=-7.234e+00;QD=1.52;ReadPosRankSum=2.53;SOR=0.307	GT:AD:DP:GQ:PL	0/1:110,24:134:99:218,0,3184	20	0	1	0
chr16	28951102	28951102	C	A	exonic	NFATC2IP	.	nonsynonymous SNV	NFATC2IP:NM_032815:exon1:c.C91A:p.R31S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.901	P	0.372	B	0.553	N	0.956	N	1.7	L	2.08	T	-1.047	T	0.041	T	0.257	2.663	14.86	0.772	0.319	-0.031	3.635	0.027	0.0164782271738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.311	0.19660	T	0.649	0.40609	P	0.097	0.30390	B	0.552894	0.11417	N	0.708059	0.999988	0.26319	N	1.545	0.39105	L	2.08	0.20255	T	-0.63	0.18459	N	0.156	0.16168	-1.0467	0.15332	T	0.041	0.17827	T	10	0.11729315	0.22147	T	0.016478	0.37757	T	0.027	0.05988	0.275	0.22687	0.32053947749	0.31673	0.2124387116668452	0.21159	0.295307434607	0.31932	0.657034516335	0.60986	T	0.114812	0.43291	T	-0.211829	0.19122	T	-0.542054	0.18094	T	0.821340084075928	0.47872	D	0.510449	0.16283	T	0.11430433	0.26985	0.09716936	0.23119	0.11430433	0.26985	0.09716936	0.23118	-4.814	0.34754	T	.	.	0.214	0.44240	B	.	.	1.751402	0.22283	15.56	0.9765081578557302	0.35137	0.04123	0.09600	N	AEFGBHCI	0.039036	0.05613	N	-0.235978105990982	0.31667	1.777965	-0.2803667030328	0.28744	1.605117	0.99999999970184	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.17	0.772	0.17655	-0.050000	0.11859	-0.368000	0.09627	0.529000	0.24592	0.735000	0.28974	0.000000	0.08366	0.080000	0.17246	0.1953:0.561:0.0:0.2437	3.635	0.07685	472	0.77968	.	.	.	.	.	.	Uncertain significance	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	1280.98	89	chr16	28951102	.	C	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.600e-01;DP=805;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-5.100e-01;SOR=0.924	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1295,0,847	20	0	1	0
chr16	29383427	29383427	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1505G:p.H502R,	.	.	674	809	29	8	2	47	0.0270595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	.	.	.	.	.	.	1.000	N	0	N	2.39	T	-0.953	T	0.015	T	0.018	-1.379	0.025	.	.	.	.	0.101	.	.	.	0.0826	0.5	0	.	0	0.0484	0	0.1630	7.68e-05	2	26028	rs77403205	0.0033	0.0031	0.0028	0.0037	0.0300	0.0031	0.0030	0.0265	0.0251	0.0033	0.0087	0.0022	0.0300	0.0016	0.0018	0.0014	0.0027	0.0086	0.0009	0.0005	0.0013	0.0006	0.0012	0.0003	0.0001	0.0002	8.718e-05	0	0	0	0.0111	0	0	0	0.0012	0	0	0.862	0.02658	T	0.416	0.14284	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.39	0.15724	T	0.98	0.01447	N	0.022	0.00372	-0.9531	0.40433	T	0.015	0.06282	T	4	0.0016781092	0.00021	T	.	.	.	0.101	0.28911	0.155	0.05858	.	.	0.018486071411131396	0.01802	.	.	.	.	.	0.002524	0.01914	T	-0.454797	0.01058	T	-0.891061	0.00568	T	0.0150007129087241	0.00322	T	0.428457	0.11587	T	0.051112827	0.09338	0.10343577	0.24818	0.051112827	0.09337	0.10343577	0.24817	0.315	0.00255	T	.	.	0.091	0.13174	B	.	.	-0.130205	0.03466	0.643	0.31851799518974977	0.01816	0.00096	0.00628	N	AEFDI	0.031964	0.03522	N	-0.523483715401697	0.21323	1.130716	-0.568996682795784	0.20303	1.093282	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	-0.909000	0.04167	-2.619000	0.03542	-2.558000	0.00246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1029.26	13	chr16	29383427	.	T	C	1029.26	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-7.310e-01;DP=1336;ExcessHet=0.0082;FS=24.193;InbreedingCoeff=0.3747;MLEAC=4;MLEAF=0.100;MQ=48.93;MQRankSum=0.357;QD=16.87;ReadPosRankSum=-2.268e+00;SOR=3.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,5:13:70:.:.:109,0,70	17	1	2	1
chr16	29383627	29383627	A	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2296.18	77	chr16	29383627	.	A	G,*	2296.18	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=2.03;DP=1184;ExcessHet=0.0208;FS=58.039;InbreedingCoeff=0.4285;MLEAC=11,1;MLEAF=0.275,0.025;MQ=35.46;MQRankSum=-8.430e-01;QD=5.36;ReadPosRankSum=-3.321e+00;SOR=3.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,10,0:77:99:0|1:29383627_A_G:115,0,1803,315,1833,2148:29383627	11	3	5	1
chr16	31061322	31061322	G	A	exonic	ZNF668	.	nonsynonymous SNV	ZNF668:NM_001172668:exon3:c.C1606T:p.R536C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.000	D	1.000	D	2.545	M	1.78	T	-0.855	T	0.153	T	0.499	3.829	19.45	4.06	1.316	3.598	9.553	0.340	0.0451001390635	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150560360	2.08e-06	4.788e-06	2.75e-06	1.398e-06	2.724e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.724e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000058	0.53742	D	0.073526	0.999728	0.48557	D	.	.	.	1.78	0.25678	T	-5.6	0.86608	D	0.52	0.55019	-0.8548	0.51634	T	0.153	0.48222	T	10	0.45184147	0.58747	T	0.045	0.61813	D	0.340	0.66202	0.713	0.84872	0.533997809139	0.53049	0.717452456123212	0.71688	2.22324046253	0.95858	0.79771733284	0.81616	T	.	.	.	-0.0366704	0.46442	T	-0.290451	0.45727	T	0.993249893188477	0.83967	D	0.966503	0.87759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.80619	P	.;.;.;.;.;.	.;.;.;.;.;.	5.244729	0.88051	29.5	0.99895265104925035	0.96819	0.95835	0.66357	D	AEFBI	0.673591	0.63960	D	0.599025949532064	0.73112	5.913435	0.527724700918501	0.69863	5.42137	0.999996705239606	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.04	4.06	0.46572	2.743000	0.47117	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.992000	0.67800	0.0:0.1553:0.684:0.1607	9.553	0.38488	45	0.97767	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1630.98	117	chr16	31061322	.	G	A	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=824;ExcessHet=0.0000;FS=3.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-1.687e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1645,0,1210	20	0	1	0
chr16	31214917	31214917	C	T	exonic	TRIM72	.	nonsynonymous SNV	TRIM72:NM_001008274:exon2:c.C179T:p.T60M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.877	P	0.000	D	0.530	N	1.75	L	-1.82	D	0.399	D	0.637	D	0.504	4.229	22.0	4.08	1.126	1.431	12.357	0.383	0.685430119692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.358e-07	8.209e-06	1.452e-06	0	2.998e-05	0	0	.	.	0	0	0	2.998e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.012	0.63918	D	1.0	0.90584	D	0.877	0.62241	P	0.000182	0.48115	D	0.088794	0.530	0.31499	N	2.465	0.71551	M	-1.82	0.84047	D	-0.35	0.12847	N	0.249	0.28146	0.399	0.89074	D	0.637	0.87297	D	10	0.42349812	0.57020	T	0.68543	0.97401	D	0.383	0.70029	0.26	0.20315	0.914354741141	0.91349	0.40577264688619147	0.40493	.	.	0.884910225868	0.94612	D	0.149936	0.48918	T	0.0510205	0.58474	T	-0.164489	0.57945	T	0.810215473175049	0.47062	D	0.841416	0.51702	T	0.08362331	0.19319	0.14446956	0.34297	0.08362331	0.19318	0.14446956	0.34296	-7.997	0.61050	D	.	.	0.191	0.52688	B	.;.	.;.	4.264420	0.64833	24.8	0.99848203687429182	0.92750	0.32800	0.24673	N	AEFDBHCI	0.138754	0.26015	N	0.15644562709631	0.49116	3.115765	0.0632836872505683	0.42718	2.588756	0.999999944930107	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.03	4.08	0.46880	0.768000	0.26252	.	.	0.510000	0.23265	0.000000	0.06391	1.000000	0.68203	0.528000	0.29660	0.0:0.916:0.0:0.084	12.357	0.54507	184	0.92813	.;.	.	.	.	.	.	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	999.98	50	chr16	31214917	.	C	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.192e+00;DP=766;ExcessHet=0.0000;FS=3.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.00;ReadPosRankSum=-1.640e-01;SOR=0.353	GT:AD:DP:GQ:PL	0/1:9,41:50:99:1014,0,145	20	0	1	0
chr16	50311764	50311764	C	A	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon20:c.C2426A:p.T809N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.961	D	0.000	U	1.000	D	2.52	M	-1.58	D	0.503	D	0.710	D	0.345	2.663	14.87	4.77	2.470	7.151	16.715	0.639	0.199701906787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.997	0.70673	D	0.961	0.70482	D	0.000342	0.45440	U	0.000000	0.999993	0.58761	D	2.74	0.80084	M	-1.58	0.81987	D	-3.55	0.68764	D	0.798	0.79406	0.503	0.90587	D	0.710	0.90021	D	10	0.89113057	0.88455	D	0.199702	0.86667	D	0.639	0.86232	0.544	0.65731	0.937996983728	0.93735	0.7490945338274858	0.74855	1.3820374664	0.84800	0.523808121681	0.42163	T	0.823068	0.95694	D	0.10415	0.64737	D	-0.0881721	0.64299	T	0.975579231909914	0.70994	D	0.855914	0.54393	D	0.6367647	0.74658	0.5361288	0.73194	0.6367647	0.74660	0.5361288	0.73195	-11.828	0.84003	D	.	.	0.442	0.61806	A	.;.	.;.	3.824456	0.55248	23.6	0.99079605234875945	0.51930	0.95174	0.63710	D	AEFDBCI	0.787187	0.71705	D	0.624903882496095	0.74753	6.186608	0.530906974633195	0.70082	5.452913	0.999999841651862	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	4.77	4.77	0.60425	7.776000	0.84252	5.912000	0.51036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0:1.0:0.0:0.0	16.715	0.85254	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	0.02381	563.98	49	chr16	50311764	.	C	A	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=884;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.609e+00;SOR=1.042	GT:AD:DP:GQ:PL	0/1:27,22:49:99:578,0,649	20	0	1	0
chr16	51141747	51141747	-	GCT	exonic	SALL1	.	nonframeshift insertion	SALL1:NM_001127892:exon2:c.183_184insAGC:p.S62_G63insS	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	4	1373	56	3	86	148	0.0220798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	12825.78	138	chr16	51141744	.	CGCT	C,CGCTGCT	12825.78	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.846;DP=1595;ExcessHet=0.0409;FS=1.139;InbreedingCoeff=0.3189;MLEAC=2,3;MLEAF=0.048,0.071;MQ=59.99;MQRankSum=0.00;QD=22.58;ReadPosRankSum=0.232;SOR=0.595	GT:AD:DP:GQ:PL	0/2:68,0,70:138:99:2499,2705,5372,0,2667,2458	17	0	1	0
chr16	55812947	55812947	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon9:c.A1039G:p.M347V	Carboxylesterase 1 deficiency (3)	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.036	B	0.037	B	0.346	N	0.999	N	1.665	L	3.07	T	-1.031	T	0.030	T	0.408	0.341	5.852	3.06	0.477	2.708	8.991	0.102	0.00631226435524	7.7e-05	0.000199681	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.0002199	34	154602	rs145135221	0.0001	0.0001	8.032e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0.0003	1.259e-05	9.937e-05	0.0021	7.223e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.033	0.45039	D	0.101	0.38596	T	0.029	0.19866	B	0.022	0.20508	B	0.345600	0.13896	N	0.675217	0.99873	0.21949	N	1.74	0.45129	L	3.07	0.10008	T	0.36	0.03700	N	0.24	0.40963	-1.0310	0.20131	T	0.030	0.12848	T	10	0.02945301	0.01072	T	0.006312	0.16580	T	0.102	0.29158	.	.	0.0762999501168	0.06990	0.5128834637500791	0.51210	0.0273575415295	0.02796	0.334775656462	0.15654	T	0.157485	0.50011	T	-0.485345	0.00689	T	-0.476417	0.24828	T	0.0635428921343275	0.07714	T	0.705629	0.31596	T	0.33968526	0.56255	0.29129216	0.55154	0.33968526	0.56255	0.29129216	0.55153	-7.441	0.60181	T	0.2822344326488468	0.37771	0.107	0.26855	B	.;.;.	.;.;.	2.205662	0.28138	17.70	0.74872305679563822	0.10859	0.87441	0.46982	D	AEFGI	0.672253	0.63872	D	-0.496701265558183	0.22189	1.183031	-0.48414767970301	0.22590	1.227715	0.256039544160999	0.18735	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.18	3.06	0.34374	1.588000	0.36242	1.243000	0.25119	0.643000	0.52288	1.000000	0.71638	0.942000	0.28804	0.061000	0.16044	0.0:0.0:0.1874:0.8126	8.991	0.35187	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	963.98	186	chr16	55812947	.	T	C	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.957e+00;DP=1038;ExcessHet=0.0000;FS=1.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.18;ReadPosRankSum=-6.060e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/1:129,57:186:99:978,0,3298	20	0	1	0
chr16	64988342	64988342	C	T	exonic	CDH11	.	nonsynonymous SNV	CDH11:NM_001330576:exon6:c.G436A:p.V146I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.789	P	0.128	B	0.000	D	1.000	D	-0.02	N	2.05	T	-1.004	T	0.088	T	0.357	2.821	15.40	5.75	2.721	2.518	18.928	0.105	0.012631436326	.	.	3.351e-05	0	8.678e-05	0	0	1.512e-05	0.0011	6.579e-05	2.59e-05	4	154602	rs767812673	2.758e-05	3.147e-05	3.018e-05	2.496e-05	0.0005	2.079e-05	1.83e-05	0.0001	7.671e-05	6.118e-05	7.112e-05	0	2.533e-05	0	0.0005	1.986e-05	1.672e-05	9.539e-05	1.314e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.547	0.07140	T	0.438	0.13403	T	0.789	0.44570	P	0.128	0.32786	B	0.000002	0.62929	D	0.059377	0.999982	0.54805	D	-0.025	0.05070	N	0.14	0.60854	T	0.1	0.05810	N	0.413	0.45331	-1.0043	0.28666	T	0.088	0.33941	T	10	0.14486843	0.27487	T	0.012631	0.31371	T	0.105	0.29889	0.194	0.10571	0.357630699053	0.35373	0.2005890945580645	0.19975	0.17007679262	0.19178	0.596359610558	0.52391	T	0.038922	0.25012	T	-0.192509	0.21890	T	-0.32903	0.41578	T	0.200643807649612	0.20451	T	0.824917	0.48720	T	0.0997011	0.23533	0.108601496	0.26163	0.0997011	0.23532	0.108601496	0.26162	-4.708	0.33501	T	.	.	0.075	0.05579	B	.;.;.	.;.;.	3.523911	0.49411	22.8	0.99137131324027084	0.53437	0.98078	0.79411	D	AEFDBIJ	0.646547	0.62205	D	-0.0628506889405849	0.39030	2.295228	0.146749786611076	0.46969	2.934434	0.999999999976982	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.75	5.75	0.90390	2.071000	0.41125	6.016000	0.52721	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	18.928	0.92527	449	0.79428	.;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1068.98	107	chr16	64988342	.	C	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=909;ExcessHet=0.0000;FS=6.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.076;SOR=0.303	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1083,0,1400	20	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.647	P	0.378	B	0.000	D	1.000	D	1.84	L	0.84	T	-0.901	T	0.154	T	0.731	3.314	17.14	4.78	1.896	7.581	14.602	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	350.22	138	chr16	66823281	.	T	C	350.22	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.935e+00;DP=1576;ExcessHet=2.5830;FS=217.219;InbreedingCoeff=-0.2105;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.615;SOR=11.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,37:138:86:.:.:86,0,1989	13	0	7	1
chr16	66934018	66934018	T	G	exonic	CIAO2B	.	nonsynonymous SNV	CIAO2B:NM_016062:exon2:c.A191C:p.E64A,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.955	P	0.794	P	0.000	D	1.000	D	2.45	M	.	.	-0.626	T	0.288	T	0.664	4.542	24.5	3.29	0.538	7.427	8.825	0.211	0.0324136793826	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs755990449	9.169e-05	9.166e-05	6.807e-05	0.0001	0.0009	7.892e-05	7.367e-05	0.0007	0.0007	0	0.0001	0	0	0	0.0002	3.508e-05	0.0002	0.0009	0.0001	0.0001	6.429e-05	0.0002	0.0006	7.093e-05	5.749e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	4.413e-05	0.0009	0.0006	0.13	0.26740	T	0.157	0.40747	T	0.955	0.54515	P	0.794	0.57880	P	0.000002	0.62929	D	0.098436	1	0.81001	D	.	.	.	.	.	.	-4.73	0.80085	D	0.852	0.84817	-0.6258	0.63747	T	0.288	0.66016	T	9	0.2747569	0.45030	T	0.032414	0.54249	D	0.211	0.50185	0.544	0.65731	0.475741759771	0.47203	0.717716488166977	0.71714	0.871252564397	0.69410	0.819010734558	0.84877	D	0.195933	0.55216	T	-0.0967382	0.36964	T	0.0064825	0.70754	D	0.618143081665039	0.37129	D	0.982302	0.94028	D	0.42429838	0.62376	0.28277084	0.54266	0.42429838	0.62377	0.28277084	0.54265	-4.467	0.30454	T	.	.	0.789	0.76759	P	.;.	.;.	5.370432	0.90033	31	0.99006521576076401	0.50273	0.82987	0.42145	D	AEFDGBHCI	0.869366	0.78986	D	0.516430515122111	0.68060	5.165622	0.475756378560282	0.66388	4.945465	0.999999999848151	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	5.52	3.29	0.36801	7.490000	0.80277	7.747000	0.68085	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1529:0.0:0.8471	8.825	0.34206	124	0.95048	MIP18 family-like;MIP18 family-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1500.98	185	chr16	66934018	.	T	G	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.441e+00;DP=943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=-2.690e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:108,77:185:99:1515,0,2924	20	0	1	0
chr16	67145381	67145381	G	A	exonic	C16orf70	.	nonsynonymous SNV	C16orf70:NM_001320543:exon13:c.G928A:p.A310T	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.017	B	0.002	B	0.004	N	0.998	D	-0.435	N	.	.	-1.097	T	0.042	T	0.083	-0.047	3.774	2.72	0.347	1.042	4.790	0.051	0.00235202258976	.	.	8.333e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs778233814	1.163e-05	1.163e-05	1.089e-05	1.238e-05	4.637e-05	7.08e-06	5.79e-06	1.583e-05	9.3e-06	2.987e-05	0	0	0	0	0	8.094e-06	4.967e-05	4.637e-05	6.567e-06	6.562e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.709	0.04056	T	0.709	0.05544	T	0.017	0.17573	B	0.002	0.06944	B	0.003755	0.34535	N	0.305004	0.997918	0.44315	D	0.125	0.08623	N	.	.	.	0.65	0.02332	N	0.14	0.14054	-1.0967	0.04514	T	0.042	0.18202	T	9	0.04991138	0.04648	T	0.002352	0.04562	T	0.051	0.14325	0.3	0.26683	0.171220215726	0.16700	0.23096321803516368	0.23011	0.345200742664	0.36432	.	.	.	0.009441	0.08594	T	-0.305449	0.08155	T	-0.579679	0.14574	T	0.0400425121188164	0.03698	T	0.718228	0.33111	T	0.017008718	0.00239	0.03182665	0.01828	0.017008718	0.00239	0.03182665	0.01828	-4.319	0.28442	T	.	.	0.061	0.01143	B	.;.	.;.	1.583893	0.20266	14.67	0.69482753804850084	0.08986	0.89484	0.49978	D	AEFDBI	0.136450	0.25713	N	-0.847717885787569	0.12106	0.5881074	-0.654114965659597	0.18112	0.9661714	0.999776584952027	0.42865	0.719381	0.83141	0	0.577304	0.33150	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.75	2.72	0.31179	1.111000	0.30773	1.348000	0.25786	-0.174000	0.10959	1.000000	0.71638	0.683000	0.26131	0.111000	0.18785	0.2426:0.0:0.6085:0.1489	4.790	0.12611	51	0.97631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2252.98	172	chr16	67145381	.	G	A	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=887;ExcessHet=0.0000;FS=4.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-1.252e+00;SOR=0.434	GT:AD:DP:GQ:PL	0/1:81,91:172:99:2267,0,1676	20	0	1	0
chr16	67662391	67662391	G	A	exonic	PARD6A	.	nonsynonymous SNV	PARD6A:NM_001037281:exon3:c.G782A:p.R261H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.813	P	0.030	N	0.995	D	0.835	L	1.09	T	-0.972	T	0.136	T	0.284	2.836	15.45	4.48	2.311	1.019	16.938	0.096	0.0115209059921	.	.	2.484e-05	0	8.658e-05	0	0	3.02e-05	0	0	2.59e-05	4	154602	rs751778776	1.437e-05	1.436e-05	1.906e-05	9.627e-06	0.0007	9.23e-06	7.84e-06	0.0002	0.0001	0	2.236e-05	0	7.557e-05	0	0.0007	8.993e-06	3.312e-05	1.159e-05	3.285e-05	3.283e-05	5.137e-05	1.345e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	1.032e-05	7.236e-05	0	0.0001	0	0	0	0	0	0	0	0.145	0.25154	T	0.081	0.41742	T	0.998	0.73220	D	0.813	0.58748	P	0.029791	0.25403	N	0.398167	0.995449	0.42694	D	0.695	0.17993	N	1.09	0.39401	T	-0.7	0.19933	N	0.095	0.07535	-0.9718	0.36819	T	0.136	0.45241	T	10	0.15388066	0.29038	T	0.011521	0.29227	T	0.096	0.27654	0.269	0.21735	0.485221517782	0.48155	0.2488384063575027	0.24797	0.99589291935	0.74233	0.481626570225	0.36281	T	0.144051	0.48047	T	-0.20072	0.20701	T	-0.443231	0.28448	T	0.418586015782784	0.29638	T	0.80032	0.45098	T	0.062406648	0.13029	0.036939654	0.03242	0.062406648	0.13029	0.036939654	0.03241	-4.791	0.34487	T	.	.	0.078	0.06756	B	.;.;.	.;.;.	2.779824	0.36511	20.3	0.99910873346868256	0.98022	0.88192	0.48011	D	AEFBI	0.444026	0.50109	N	0.243980748198499	0.53342	3.503481	0.248537500616888	0.52566	3.430666	0.999999959002792	0.74766	0.740716	0.97744	0	0.743671	0.97443	0	0.0	0.00061	3	0.592323	0.36904	0	.	.	4.48	4.48	0.53973	1.688000	0.37308	3.411000	0.38190	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.0:0.0:1.0:0.0	16.938	0.86078	42	0.97857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1929.98	147	chr16	67662391	.	G	A	1929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.03;SOR=0.671	GT:AD:DP:GQ:PL	0/1:68,79:147:99:1944,0,1589	20	0	1	0
chr16	70884028	70884028	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon59:c.G9871A:p.A3291T,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	2817666	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.011	B	0.005	U	1.000	D	0.345	N	5.63	T	-0.805	T	0.003	T	0.081	3.600	18.33	5.01	1.122	3.453	15.221	0.140	0.012957347058	.	.	0.0011	0.0007	0.0009	0	0.0002	0.0012	0.0046	0.0014	0.0002305	6	26028	rs1798440	0.0010	0.0017	0.0009	0.0012	0.0068	0.0010	0.0010	0.0051	0.0045	0.0003	0.0015	7.653e-05	0	0.0002	0.0068	0.0009	0.0014	0.0030	0.0010	0.0011	0.0010	0.0010	0.0027	0.0009	0.0008	0.0016	0.0013	0.0003	0	0.0009	0	0	0	0.0068	0.0016	0.0014	0.0027	0.801	0.03109	T	.	.	.	.	.	.	.	.	.	0.005375	0.32858	U	0.000000	0.999655	0.20771	N	0.345	0.11182	N	5.63	0.00800	T	-0.25	0.11008	N	0.13	0.12484	-0.8055	0.54819	T	0.003	0.00864	T	10	0.010524392	0.00234	T	0.012957	0.31981	T	0.140	0.37593	.	.	0.0551355673512	0.04727	0.2614032634542387	0.26053	.	.	0.402422636747	0.25406	T	0.023221	0.17762	T	-0.611916	0.00123	T	-0.708099	0.05394	T	0.0182645641596106	0.00546	T	.	.	.	0.063533396	0.13388	0.087894805	0.20460	0.063533396	0.13387	0.087894805	0.20459	-4.103	0.25335	T	.	.	0.069	0.02993	B	.	.	3.327269	0.45789	22.2	0.98914106075082664	0.48436	0.85183	0.44294	D	AEFDBI	0.297328	0.40694	N	-0.578649584082461	0.19593	1.026724	-0.366086567752297	0.26016	1.434331	0.999999999934838	0.74766	0.603402	0.35316	0	0.548873	0.16688	0	0.005938	0.00136	3	0.530356	0.10902	0	.	.	5.01	5.01	0.66477	2.022000	0.40651	6.759000	0.56531	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1417:0.8583:0.0	15.221	0.72999	519	0.74455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2027.11	120	chr16	70884028	.	C	T	2027.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=901;ExcessHet=0.1072;FS=6.335;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=45.86;MQRankSum=-5.924e+00;QD=8.52;ReadPosRankSum=1.48;SOR=1.074	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1117,0,1425	19	0	2	0
chr16	71640847	71640847	C	G	exonic	MARVELD3	.	nonsynonymous SNV	MARVELD3:NM_001017967:exon3:c.C1053G:p.C351W,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	.	.	-2.22	D	0.479	D	0.729	D	0.621	3.675	18.68	4.63	2.677	0.696	5.234	0.610	0.156131669314	.	.	1.65e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs780346547	4.104e-06	4.104e-06	0	8.25e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	1.971e-05	1.97e-05	0	4.035e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	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	.	.	.	-2.22	0.87038	D	-10.08	0.98868	D	0.908	0.90932	0.479	0.90257	D	0.729	0.90729	D	9	0.9722334	0.96861	D	0.156132	0.83695	D	0.610	0.84719	.	.	0.853384332049	0.85197	0.8207526624986886	0.82032	0.981304557539	0.73751	.	.	.	.	.	.	0.11	0.65353	D	-0.0161232	0.69284	D	0.976649105548859	0.71474	D	0.559944	0.19565	T	.	.	.	.	.	.	.	.	-12.258	0.86084	D	.	.	0.921	0.84317	P	.	.	3.497639	0.48918	22.7	0.99505947038945219	0.68322	0.90805	0.52294	D	AEFBI	0.819570	0.74056	D	0.582574220144458	0.72088	5.750882	0.574796355243944	0.73137	5.921718	0.95732465702122	0.28297	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	5.67	4.63	0.57175	0.514000	0.22492	3.300000	0.37375	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.994000	0.71098	0.0:0.7669:0.0:0.2331	5.234	0.14757	105	0.95676	.	.	.	.	.	.	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	2901.98	219	chr16	71640847	.	C	G	2901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=959;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-8.750e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/1:105,114:219:99:2916,0,2718	20	0	1	0
chr16	71850466	71850466	G	T	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.G726T:p.L242F,	.	.	425	1089	7	1	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.255	B	0.025	B	.	.	0.998	N	0	N	1.4	T	-1.095	T	0.030	T	0.227	1.183	9.811	4.28	2.631	0.768	9.837	0.046	0.00387732748669	.	0.00159744	0.0028	0	0	0	0	0.0053	0	0.0014	0.0007568	117	154602	rs140112104	0.0028	0.0027	0.0028	0.0028	0.0074	0.0027	0.0027	0.0056	0.0050	0.0005	0.0023	0.0053	0	0.0008	0.0074	0.0031	0.0023	0.0016	0.0022	0.0022	0.0020	0.0023	0.0034	0.0020	0.0019	0.0031	0.0029	0.0006	0	0.0029	0.0037	0	0.0005	0.0170	0.0034	0.0019	0.0006	0.059	0.37536	T	0.693	0.05863	T	0.255	0.31319	B	0.025	0.20508	B	.	.	.	.	0.998111	0.22343	N	0	0.06538	N	1.4	0.33630	T	-0.88	0.23808	N	0.133	0.12913	-1.0951	0.04738	T	0.030	0.13067	T	9	0.004748881	0.00100	T	0.003877	0.09117	T	0.046	0.12618	0.102	0.01589	0.229924730088	0.22615	0.13991815819134318	0.13914	.	.	0.476045012474	0.35513	T	0.008887	0.08127	T	-0.52941	0.00387	T	-0.535658	0.18726	T	0.0107182480058163	0.00151	T	0.734227	0.35027	T	0.059047904	0.11953	0.11161324	0.26926	0.059047904	0.11953	0.11161324	0.26925	-4.462	0.30388	T	.	.	0.084	0.09481	B	.	.	3.328884	0.45818	22.2	0.98841391330813078	0.47135	0.87012	0.46427	D	AEFBCI	0.236999	0.35936	N	-0.199905727226656	0.33138	1.876696	0.00204800491214126	0.39810	2.366166	0.963718871140352	0.28710	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	4.28	0.50183	0.458000	0.21603	6.514000	0.55815	0.676000	0.76740	0.900000	0.31427	1.000000	0.68203	0.999000	0.91618	0.1224:0.1297:0.7479:0.0	9.837	0.40142	83	0.96533	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1678.98	153	chr16	71850466	.	G	T	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=869;ExcessHet=0.0000;FS=1.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=1.32;SOR=0.841	GT:AD:DP:GQ:PL	0/1:87,66:153:99:1693,0,2398	20	0	1	0
chr16	77319905	77319905	T	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon16:c.A1960C:p.N654H	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	1	1452	66	3	0	72	0.0241935	.	.	1157850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.603	P	0.275	B	0.000	N	0.993	D	2.21	M	0.67	T	-0.930	T	0.133	T	0.141	2.821	15.40	3.1	0.900	1.553	6.986	0.154	.	0.0008	0.00519169	0.0045	0.0003	0.0010	0.0001	0.0053	0.0016	0.0033	0.0236	0.003978	615	154602	rs143047414	0.0026	0.0026	0.0018	0.0034	0.0254	0.0025	0.0025	0.0245	0.0242	0.0003	0.0007	0.0083	5.038e-05	0.0043	0.0163	0.0008	0.0029	0.0254	0.0018	0.0018	0.0013	0.0024	0.0232	0.0017	0.0016	0.0197	0.0184	9.626e-05	0	0.0009	0.0069	0.0004	0.0047	0.0102	0.0010	0.0028	0.0232	0.051	0.39334	T	0.091	0.40110	T	0.603	0.39389	P	0.275	0.40079	B	0.000259	0.46924	N	0.216159	0.992794	0.41745	D	2.33	0.66821	M	0.67	0.52187	T	-2.72	0.57920	D	0.376	0.41754	-0.9297	0.44183	T	0.133	0.44504	T	10	0.004567474	0.00095	T	.	.	.	0.154	0.40340	.	.	0.584023569625	0.58075	0.5169625543263867	0.51619	.	.	0.371716141701	0.21078	T	0.093123	0.39147	T	-0.511234	0.00494	T	-0.488205	0.23578	T	0.04476698695772	0.04559	T	0.680232	0.28883	T	0.16513127	0.36765	0.12808686	0.30822	0.16513127	0.36765	0.12808686	0.30821	-4.831	0.34951	T	.	.	0.067	0.02458	B	.	.	2.067435	0.26289	17.07	0.99152019088237753	0.53848	0.88569	0.48558	D	AEFDBI	0.308398	0.41500	N	-0.0971111787511456	0.37519	2.183957	-0.094354553607333	0.35622	2.063184	0.335326949362916	0.19528	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.54	3.1	0.34780	1.538000	0.35700	2.242000	0.31619	-0.115000	0.14600	0.999000	0.42656	0.999000	0.35428	0.803000	0.37862	0.14:0.0:0.2906:0.5694	6.986	0.23909	771	0.49057	ADAM-TS Spacer 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	124	chr16	77319905	.	T	G	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.840e-01;DP=825;ExcessHet=0.0000;FS=1.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-3.580e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:65,59:124:99:1446,0,1662	20	0	1	0
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	0/1:32,16,0:48:99:347,0,775,442,823,1265	11	2	7	0
chr16	84236816	84236816	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon2:c.G670A:p.A224T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.78	M	-4.35	D	1.103	D	0.951	D	0.906	5.413	35	5.11	2.364	7.731	17.544	0.900	0.453913000385	7.7e-05	.	5.012e-05	0	0	0.0002	0.0002	3.048e-05	0.0011	0	4.53e-05	7	154602	rs371707569	4.311e-05	4.446e-05	3.268e-05	5.364e-05	0.0004	3.444e-05	3.13e-05	0.0002	0.0002	0	0	0	0.0004	0.0005	0	1.079e-05	6.623e-05	3.478e-05	5.252e-05	5.249e-05	2.569e-05	8.057e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	6.532e-05	0	0.0008	9.418e-05	0	1.47e-05	0	0.0002	0.022	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.135	0.88152	M	-4.35	0.97292	D	-3.79	0.71997	D	0.927	0.95956	1.103	0.99780	D	0.951	0.98406	D	10	0.9421134	0.93536	D	0.453913	0.94392	D	0.900	0.97210	.	.	0.980152734819	0.97993	0.7171497687857085	0.71657	0.299232278164	0.32289	0.543056249619	0.44877	T	0.576846	0.86080	D	0.351911	0.86634	D	0.532148	0.95258	D	0.762604475021362	0.44002	D	0.957004	0.83719	D	0.5790413	0.71556	0.50084877	0.71143	0.5790413	0.71557	0.50084877	0.71143	-6.562	0.50762	T	.	.	0.454	0.65780	A	.;.	.;.	5.144797	0.86152	28.8	0.99936979861783948	0.99661	0.98357	0.81958	D	AEFDBI	0.915213	0.87967	D	0.844398920442587	0.88787	9.711513	0.782761902675287	0.88570	9.631926	0.999999997480832	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.11	5.11	0.69188	7.811000	0.84631	7.569000	0.60664	0.513000	0.23382	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	17.544	0.87752	867	0.32089	Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	705.98	56	chr16	84236816	.	C	T	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=1104;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.540e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:29,27:56:99:720,0,723	20	0	1	0
chr16	84295093	84295093	C	T	exonic	WFDC1	.	nonsynonymous SNV	WFDC1:NM_001282466:exon1:c.C122T:p.A41V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.003	B	0.001	B	0.615	N	1.000	N	0	N	1.55	T	-1.017	T	0.031	T	0.066	0.978	8.993	-1.6	-0.123	0.015	2.747	0.008	0.00521187747419	.	0.000199681	3.309e-05	0	0	0	0	3.006e-05	0	0.0001	3.23e-05	5	154602	rs531551784	1.574e-05	1.573e-05	1.089e-05	2.063e-05	9.279e-05	1.048e-05	8.75e-06	4.58e-05	3.273e-05	0	0	0.0001	0	0	0	9.893e-06	1.656e-05	9.279e-05	2.626e-05	2.625e-05	3.854e-05	1.342e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	0	0	2.94e-05	0	0.0002	0.287	0.15149	T	0.225	0.46862	T	0.003	0.11197	B	0.001	0.04355	B	0.614588	0.05720	N	1.254650	1	0.08975	N	0.895	0.22405	L	1.55	0.29866	T	-1.2	0.30555	N	0.056	0.04426	-1.0167	0.24787	T	0.031	0.13418	T	10	0.02924195	0.01051	T	0.005212	0.13279	T	0.008	0.00669	0.294	0.25720	0.0920862733494	0.08535	0.5239452950613518	0.52318	0.0197667107922	0.01940	0.446965694427	0.31530	T	0.040072	0.25406	T	-0.484919	0.00693	T	-0.752801	0.03378	T	0.0497401808612008	0.05455	T	0.634137	0.24845	T	0.05766979	0.11505	0.055068016	0.09590	0.05766979	0.11504	0.055068016	0.09589	-4.938	0.36159	T	.	.	0.095	0.40842	B	.;.;.	.;.;.	1.581020	0.20228	14.65	0.90769819135728536	0.20018	0.02605	0.07176	N	AEFDBCI	0.054440	0.09898	N	-1.11113577913115	0.06444	0.296657	-1.09807229024636	0.07738	0.3775978	0.999651403112504	0.41424	0.616025	0.39624	0	0.563428	0.19063	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	4.26	-1.6	0.07977	0.053000	0.14067	-0.657000	0.07999	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.795000	0.37519	0.3433:0.3512:0.0:0.3055	2.747	0.04946	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	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	1163.98	67	chr16	84295093	.	C	T	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.474e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.37;ReadPosRankSum=-8.910e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:20,47:67:99:1178,0,427	20	0	1	0
chr16	85672448	85672448	G	A	exonic	GSE1	.	nonsynonymous SNV	GSE1:NM_001134473:exon15:c.G3251A:p.R1084Q	.	.	.	.	.	.	.	.	.	.	.	3259136	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.898	P	0.000	D	0.963	D	1.935	M	1.41	T	-0.827	T	0.181	T	0.467	4.281	22.4	5.89	2.793	5.858	20.262	0.172	0.0155260808207	7.7e-05	.	6.001e-05	0	0	0	0	6.243e-05	0.0011	0.0001	5.17e-05	8	154602	rs368544307	5.764e-05	5.952e-05	5.599e-05	5.929e-05	0.0003	4.757e-05	4.379e-05	6.103e-05	5.298e-05	0	0	0	0	0	0.0003	7.038e-05	1.66e-05	3.489e-05	5.915e-05	5.911e-05	5.14e-05	6.727e-05	0.0001	3.078e-05	2.211e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.012	0.54683	D	0.004	0.74150	D	0.998	0.73220	D	0.898	0.63708	P	0.000244	0.46924	D	0.180182	0.962873	0.38315	D	2.32	0.66415	M	1.41	0.33412	T	-1.93	0.47344	N	0.388	0.43223	-0.8265	0.53524	T	0.181	0.52798	T	10	0.3217131	0.49530	T	0.015526	0.36313	T	0.172	0.43662	.	.	0.552451585512	0.54903	0.31450712655164786	0.31363	.	.	0.487424850464	0.37082	T	0.085079	0.37422	T	-0.178142	0.24011	T	-0.311518	0.43495	T	0.342261135578156	0.26714	T	0.971903	0.89922	D	0.18470725	0.39799	0.13877589	0.33132	0.18470725	0.39799	0.13877589	0.33131	-4.296	0.28121	T	.	.	0.114	0.22537	B	.;.;.	.;.;.	5.273832	0.88551	29.6	0.99955533600834623	0.99975	0.90767	0.52222	D	AEFDBCI	0.596059	0.59037	D	0.750830109418654	0.82958	7.893377	0.757832521150027	0.86742	8.987416	0.999969372593258	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.89	5.89	0.94758	5.932000	0.69838	8.651000	0.77933	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	20.262	0.98449	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	1256.98	87	chr16	85672448	.	G	A	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=869;ExcessHet=0.0000;FS=0.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=0.930;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,35:87:99:0|1:85672441_A_C:1271,0,2037:85672441	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:1,80,0,0,0,0:81:99:3458,195,0,3464,241,3510,3464,241,3510,3510,3464,241,3510,3510,3510,3464,241,3510,3510,3510,3510	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:1,80,0,0,0,0:81:99:3458,195,0,3464,241,3510,3464,241,3510,3510,3464,241,3510,3510,3510,3464,241,3510,3510,3510,3510	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:1,80,0,0,0,0:81:99:3458,195,0,3464,241,3510,3464,241,3510,3510,3464,241,3510,3510,3510,3464,241,3510,3510,3510,3510	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:1,80,0,0,0,0:81:99:3458,195,0,3464,241,3510,3464,241,3510,3510,3464,241,3510,3510,3510,3464,241,3510,3510,3510,3510	4	4	6	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:115,32:147:99:100,0,2310	5	0	12	4
chr17	181469	181469	C	T	exonic	DOC2B	.	nonsynonymous SNV	DOC2B:NM_003585:exon1:c.G11A:p.R4Q,	.	.	404	1094	23	1	0	25	0.0112969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.992	D	.	.	0.995	N	.	.	-0.17	T	-0.086	T	0.398	T	0.373	3.071	16.25	3.15	1.296	2.090	13.257	0.194	.	.	0.000399361	0.0060	0	0	0	0	0.0057	0.0588	0.0068	0.0007956	123	154602	rs548884378	0.0025	0.0021	0.0025	0.0026	0.0062	0.0025	0.0024	0.0038	0.0030	0.0003	0.0015	0.0025	0.0003	0.0007	0.0062	0.0026	0.0024	0.0025	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0017	0.0028	0.0027	0.0005	0	0.0016	0.0021	0	0.0006	0.0139	0.0031	0.0029	0.0021	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.20262	-0.0859	0.80420	T	0.398	0.75045	T	7	0.0076004267	0.00173	T	.	.	.	.	.	.	.	0.52515372042	0.52161	0.16111888608415761	0.16032	.	.	0.72923386097	0.71395	T	0.064615	0.32480	T	-0.375144	0.03341	T	-0.312165	0.43425	T	0.0650161765479103	0.07933	T	0.608539	0.22995	T	0.078002155	0.17738	0.24301709	0.49735	0.078002155	0.17738	0.24301709	0.49734	-4.318	0.28428	T	.	.	0.122	0.25429	B	.	.	2.820107	0.37150	20.4	0.99639380534066346	0.76571	0.43722	0.27161	N	AEFDBI	0.226590	0.35052	N	0.262553181578888	0.54263	3.592291	0.175727727882014	0.48521	3.066895	0.999999999143442	0.74766	0.59774	0.34471	0	0.578056	0.33634	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.15	3.15	0.35301	1.273000	0.32724	4.019000	0.41233	-0.498000	0.05027	0.940000	0.32642	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	13.257	0.59514	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1387.08	50	chr17	181469	.	C	T	1387.08	.	AC=2;AF=0.048;AN=42;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.74;SOR=1.157	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1415,150,0	20	1	0	0
chr17	532865	532865	T	C	exonic	VPS53	.	nonsynonymous SNV	VPS53:NM_018289:exon18:c.A1975G:p.I659V	Pontocerebellar hypoplasia, type 2E, Autosomal recessive	.	433	1068	20	1	0	22	0.0101946	.	.	363728	Pontocerebellar_hypoplasia_type_2E|Microcephaly|not_provided	MONDO:MONDO:0014370,MedGen:C4014488,OMIM:615851,Orphanet:247198|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.019	B	0.034	B	0.000	D	1.000	D	1.04	L	1.4	T	-1.045	T	0.099	T	0.271	2.045	12.79	5.08	1.920	3.916	14.019	0.036	.	0.0009	0.00519169	0.0035	0.0005	0.0030	0.0100	0	0.0014	0.0068	0.0124	0.0031824	492	154602	rs140376049	0.0018	0.0018	0.0016	0.0021	0.0108	0.0018	0.0018	0.0102	0.0100	0.0002	0.0029	0.0039	0.0050	0.0002	0.0104	0.0010	0.0026	0.0108	0.0018	0.0018	0.0016	0.0020	0.0137	0.0016	0.0016	0.0110	0.0101	0.0004	0	0.0033	0.0052	0.0068	9.423e-05	0.0102	0.0012	0.0024	0.0137	0.436	0.16683	T	0.525	0.14725	T	0.004	0.17989	B	0.011	0.22546	B	0.000005	0.62929	D	0.103872	0.999995	0.81001	D	1.025	0.25523	L	1.4	0.50459	T	-0.37	0.15178	N	0.344	0.43995	-1.0448	0.15884	T	0.099	0.36856	T	10	0.009616137	0.00217	T	.	.	.	0.036	0.09122	.	.	0.232513804876	0.22884	0.27455534500255907	0.27368	0.288955871697	0.31300	0.591659486294	0.51728	T	0.106667	0.41820	T	-0.465481	0.00908	T	-0.430376	0.29894	T	0.00606719036809914	0.00067	T	.	.	.	0.09081424	0.21262	0.14843798	0.35088	0.09562082	0.22507	0.14770514	0.34943	-6.417	0.49642	T	.	.	0.077	0.06803	B	.;.;.;.	.;.;.;.	2.567707	0.33263	19.29	0.98519920318753362	0.42447	0.96055	0.67329	D	AEFBI	0.580715	0.58101	D	-0.175878687463541	0.34142	1.945147	0.0143875825731752	0.40381	2.409062	0.99651892825105	0.34798	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.898000	0.55993	4.168000	0.42254	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	14.019	0.64063	630	0.65016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	2204.11	78	chr17	532865	.	T	C	2204.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.224e+00;DP=813;ExcessHet=0.1072;FS=0.604;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-5.090e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:29,49:78:99:1144,0,696	19	0	2	0
chr17	3476274	3476274	G	A	exonic	ASPA	.	nonsynonymous SNV	ASPA:NM_000049:exon1:c.G115A:p.A39T	Canavan disease, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	689591	Spongy_degeneration_of_central_nervous_system	MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.003	B	0.002	B	0.020	N	0.597	D	-0.02	N	-4.51	D	-0.064	T	0.693	D	0.19	1.417	10.67	-1.85	-0.205	1.107	9.941	0.294	0.0481110624727	.	0.000399361	0.0004	0	0	0	0	0.0001	0	0.0028	0.0003816	59	154602	rs544167597	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0030	0	0	0	2.52e-05	0	0.0005	0.0001	0.0001	0.0035	0.0001	0.0001	3.855e-05	0.0002	0.0029	7.087e-05	5.744e-05	0.0018	0.0014	0	0	6.536e-05	0	0	0	0	1.47e-05	0.0005	0.0029	0.514	0.07401	T	0.622	0.08079	T	0.003	0.11197	B	0.002	0.06944	B	0.019746	0.27189	N	0.422898	0.596672	0.32502	D	0.735	0.18861	N	-4.51	0.97672	D	-0.71	0.20145	N	0.068	0.04072	-0.0641	0.80906	T	0.693	0.89393	D	10	0.009462327	0.00213	T	0.048111	0.63228	D	0.294	0.61388	0.325	0.30711	0.683028895158	0.68032	0.513418895341047	0.51263	0.0672314131772	0.07511	0.264992773533	0.05500	T	0.316791	0.89309	T	-0.304552	0.08236	T	-0.213295	0.53380	T	0.0141792150929691	0.00279	T	0.677732	0.28664	T	0.052487727	0.09798	0.04547096	0.06126	0.052487727	0.09797	0.04547096	0.06126	-4.171	0.26330	T	0.1841515365011986	0.23872	0.066	0.02145	B	.;.;.	.;.;.	1.531101	0.19647	14.37	0.84258332309524087	0.15187	0.45122	0.27468	N	AEFDGBCI	0.286563	0.39892	N	-1.11541775557811	0.06368	0.2929593	-1.0320991597225	0.09084	0.44999	0.99954842827776	0.40300	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.34	-1.85	0.07363	1.153000	0.31287	-0.249000	0.10523	-0.159000	0.11634	0.553000	0.27369	0.000000	0.08366	0.959000	0.51448	0.4642:0.0:0.5358:0.0	9.941	0.40748	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	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	2272.98	169	chr17	3476274	.	G	A	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.186;DP=867;ExcessHet=0.0000;FS=2.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.884;SOR=0.942	GT:AD:DP:GQ:PL	0/1:77,92:169:99:2287,0,1755	20	0	1	0
chr17	3725463	3725463	A	C	exonic	HASPIN	.	nonsynonymous SNV	HASPIN:NM_031965:exon1:c.A1528C:p.I510L,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.004	B	0.096	N	1.000	N	-0.555	N	-0.22	T	-1.029	T	0.082	T	0.126	-1.865	0.008	0.591	0.316	0.296	0.765	0.095	0.0221204505999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.096308	0.20082	N	0.249150	1	0.81001	D	0.105	0.08473	N	-0.22	0.66474	T	0.73	0.02068	N	0.147	0.14905	-1.0289	0.20811	T	0.082	0.32324	T	10	0.09604183	0.17199	T	0.02212	0.44975	T	0.095	0.27398	0.618	0.75232	0.329020015101	0.32502	0.5850716257667402	0.58437	0.384924669176	0.39787	0.402416497469	0.25406	T	0.046701	0.27503	T	-0.182297	0.23394	T	-0.499634	0.22385	T	0.0382470975469885	0.03375	T	0.49935	0.15589	T	0.10784897	0.25500	0.047960043	0.07023	0.10784897	0.25500	0.047960043	0.07023	-4.43	0.29961	T	.	.	0.059	0.00730	B	.	.	-0.185027	0.03167	0.517	0.49323519516506487	0.04190	0.11254	0.16511	N	AEFBHCI	0.054295	0.09861	N	-0.972216841395767	0.09200	0.4344607	-0.82516060096959	0.13886	0.7227569	0.999424110620055	0.39630	0.722319	0.85440	0	0.587265	0.34161	0	0.698795	0.65105	0	0.536845	0.12434	2	.	.	4.87	0.591	0.16648	0.258000	0.18156	-0.336000	0.09852	-0.815000	0.03024	0.935000	0.32453	0.000000	0.08366	0.408000	0.26961	0.1889:0.3932:0.176:0.2418	0.765	0.00949	660	0.61921	Protein kinase, ATP binding site|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	1	0	0	0	0.02381	2413.98	173	chr17	3725463	.	A	C	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=1254;ExcessHet=0.0000;FS=0.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.492;SOR=0.618	GT:AD:DP:GQ:PL	0/1:83,90:173:99:2428,0,2186	20	0	1	0
chr17	4486464	4486464	G	A	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_001320449:exon10:c.G950A:p.R317H	.	.	426	1095	1	0	0	1	0.000456413	.	.	2444254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.05	B	0.024	B	0.009	N	1.000	N	1.07	L	2.45	T	-1.022	T	0.041	T	0.229	2.490	14.29	3.6	0.936	0.910	9.950	0.045	0.00624551636933	.	.	1.677e-05	0	0	0	0	1.531e-05	0	6.154e-05	1.29e-05	2	154602	rs61734113	3.218e-05	3.352e-05	2.725e-05	3.716e-05	0.0005	2.48e-05	2.222e-05	0.0001	7.843e-05	8.962e-05	0	0	0	0	0.0005	1.619e-05	0.0001	0.0002	2.628e-05	2.626e-05	2.569e-05	2.689e-05	6.541e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.541e-05	0	0	0	0.0032	2.94e-05	0	0	0.55	0.06585	T	0.557	0.09205	T	0.003	0.11197	B	0.002	0.06944	B	0.009297	0.30429	N	0.342195	0.999954	0.19781	N	0.72	0.18721	N	2.45	0.15028	T	-1.42	0.34992	N	0.221	0.24758	-1.0220	0.23063	T	0.041	0.17700	T	10	0.12913272	0.24567	T	0.006246	0.16376	T	0.045	0.12272	0.53	0.63707	0.0611884634855	0.05136	0.22363989207585208	0.22278	0.161629918898	0.18244	0.485845714808	0.36863	T	0.023047	0.17662	T	-0.399275	0.02340	T	-0.607708	0.12172	T	0.0656390083699259	0.08026	T	0.335566	0.07155	T	0.04461289	0.07163	0.054962017	0.09551	0.04461289	0.07162	0.054962017	0.09550	-3.671	0.18891	T	.	.	0.074	0.05103	B	.	.	2.770857	0.36367	20.2	0.96004234005976796	0.28425	0.50617	0.28704	D	AEFDBHIJ	0.280011	0.39393	N	-0.618412577386559	0.18390	0.9544529	-0.478377867757737	0.22751	1.237242	0.999958534768847	0.48110	0.517182	0.21443	0	0.626922	0.53725	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	4.78	3.6	0.40374	1.181000	0.31626	5.162000	0.47795	-0.165000	0.11486	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0:0.0:0.4816:0.5184	9.950	0.40802	828	0.39726	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	892.98	64	chr17	4486464	.	G	A	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-1.102e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/1:32,32:64:99:907,0,822	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,109,0:217:99:0|1:4933907_ACCACCCCAGAGCCCAC_A:3614,0,4097,3940,4424,8364:4933907	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,109,0:217:99:0|1:4933907_ACCACCCCAGAGCCCAC_A:3614,0,4097,3940,4424,8364:4933907	0	10	6	1
chr17	5182162	5182162	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C2095T:p.R699W,	.	.	.	.	.	.	.	.	.	.	.	3358024	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.614	P	.	.	1.000	N	1.59	L	2.19	T	-1.060	T	0.059	T	0.183	2.191	13.28	1.04	0.496	-0.154	7.549	0.028	0.00191642926603	.	0.000599042	0.0001	0.0005	0	0	0	0.0001	0	6.056e-05	0.0001358	21	154602	rs200830913	9.577e-05	9.577e-05	8.031e-05	0.0001	0.0003	8.242e-05	7.783e-05	0.0002	0.0001	0.0003	0	0	2.519e-05	0	0.0003	0.0001	3.312e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	9.778e-05	8.287e-05	0.0002	0.0001	0.0003	0	6.547e-05	0	0	0	0	0.0001	0	0.0004	0.002	0.72154	D	0.005	0.72224	D	0.997	0.70673	D	0.614	0.51198	P	.	.	.	.	1	0.08975	N	1.82	0.47800	L	2.19	0.18724	T	-2.46	0.53736	N	0.124	0.11626	-1.0599	0.11781	T	0.059	0.24723	T	9	0.03743136	0.02097	T	0.001916	0.03377	T	0.028	0.06331	.	.	0.288352970974	0.28455	0.035691615640623155	0.03516	0.0128399478258	0.01236	0.294176548719	0.09535	T	0.122005	0.44537	T	-0.455426	0.01049	T	-0.585988	0.14015	T	0.196108356118202	0.20198	T	0.516748	0.16663	T	0.07388465	0.16541	0.09571942	0.22714	0.07388465	0.16541	0.09571942	0.22713	-6.166	0.47647	T	.	.	0.188	0.40921	B	.;.	.;.	2.780268	0.36519	20.3	0.99665802148351801	0.78266	0.00001	0.00044	N	AEFDBHCI	0.069573	0.13777	N	-0.454142356503482	0.23600	1.26846	-0.70661232679426	0.16795	0.8902042	0.0021353486123597	0.09181	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	1.04	1.04	0.19220	0.113000	0.15333	-0.334000	0.09867	-1.069000	0.01598	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	7.549	0.26954	528	0.73785	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2056.98	106	chr17	5182162	.	G	A	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.413;DP=1454;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=-7.280e-01;QD=19.41;ReadPosRankSum=-4.000e-02;SOR=0.722	GT:AD:DP:GQ:PL	0/1:38,68:106:99:2071,0,943	20	0	1	0
chr17	5434951	5434951	G	C	exonic	C1QBP	.	nonsynonymous SNV	C1QBP:NM_001212:exon3:c.C399G:p.F133L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.752	P	0.591	P	0.000	D	1.000	D	2.015	M	.	.	-0.725	T	0.228	T	0.938	3.879	19.71	1.21	0.553	3.245	9.341	0.361	0.0244139149482	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334073347	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.082	0.33254	T	0.039	0.51112	D	0.752	0.43309	P	0.591	0.50479	P	0.000001	0.62929	D	0.098400	0.999999	0.58761	D	2.52	0.73523	M	.	.	.	-4.4	0.77308	D	0.965	0.97535	-0.7248	0.59224	T	0.228	0.59258	T	9	0.95737636	0.95111	D	0.024414	0.47408	T	0.361	0.68141	0.94	0.99182	0.411531665326	0.40769	0.8900448585939228	0.88974	0.893170516234	0.70311	0.709330797195	0.68497	T	0.671352	0.90249	D	0.38655	0.89122	D	0.317476	0.88985	D	0.992344796657562	0.82800	D	0.908009	0.67517	D	0.7012124	0.78123	0.47199395	0.69389	0.7012124	0.78124	0.47199395	0.69389	-7.037	0.54303	T	0.4705204487742078	0.55106	0.993	0.94691	P	.;.;.	.;.;.	3.875228	0.56290	23.7	0.9975630577542941	0.84694	0.97113	0.72765	D	AEFGBI	0.548000	0.56147	D	0.185074949923045	0.50482	3.237819	0.143281147672589	0.46786	2.919045	0.998557289975698	0.37186	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.3	1.21	0.20240	3.323000	0.51726	6.458000	0.55688	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2576:0.0:0.7424:0.0	9.341	0.37243	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	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	548.98	37	chr17	5434951	.	G	C	548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=710;ExcessHet=0.0000;FS=8.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-2.140e-01;SOR=2.338	GT:AD:DP:GQ:PL	0/1:17,20:37:99:563,0,382	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	1/1:0,54,0,0,0,0:54:99:2419,161,0,2420,163,2422,2420,163,2422,2422,2420,163,2422,2422,2422,2420,163,2422,2422,2422,2422	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	1/1:0,54,0,0,0,0:54:99:2419,161,0,2420,163,2422,2420,163,2422,2422,2420,163,2422,2422,2422,2420,163,2422,2422,2422,2422	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	1/1:0,54,0,0,0,0:54:99:2419,161,0,2420,163,2422,2420,163,2422,2422,2420,163,2422,2422,2422,2420,163,2422,2422,2422,2422	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	1/1:0,54,0,0,0,0:54:99:2419,161,0,2420,163,2422,2420,163,2422,2422,2420,163,2422,2422,2422,2420,163,2422,2422,2422,2422	0	14	0	0
chr17	8189288	8189288	C	T	exonic	BORCS6	.	nonsynonymous SNV	BORCS6:NM_017622:exon1:c.G853A:p.A285T,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.98	D	0.816	P	0.000	D	0.861	D	-1.1	N	.	.	-0.901	T	0.081	T	0.167	3.728	18.93	5.37	2.521	1.297	14.604	0.120	0.00395482378342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.895e-06	8.893e-06	1.226e-05	5.501e-06	1.079e-05	4.96e-06	3.83e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-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	0.292	0.14894	T	0.408	0.14633	T	0.98	0.59353	D	0.816	0.58888	P	0.000026	0.55875	D	0.119371	0.860972	0.35387	D	.	.	.	.	.	.	-0.23	0.10656	N	0.117	0.10626	-0.9014	0.47846	T	0.081	0.32090	T	9	0.21507207	0.38049	T	0.003955	0.09337	T	0.120	0.33359	0.393	0.41770	0.0551355673512	0.04727	0.5874426398544258	0.58674	.	.	.	.	.	0.007564	0.06959	T	-0.152433	0.27932	T	-0.456736	0.26954	T	0.907621800899506	0.56197	D	0.663934	0.27277	T	0.10489381	0.24799	0.14471124	0.34347	0.10489381	0.24799	0.14471124	0.34346	-3.898	0.22273	T	.	.	0.273	0.50718	B	.	.	4.149396	0.62235	24.4	0.99878187641459504	0.95491	0.59196	0.30848	D	AEFDGBCI	0.146245	0.26965	N	0.093870817666825	0.46177	2.862137	0.21879970628475	0.50891	3.276509	0.999999999837968	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.665054	0.64577	0	.	.	5.37	5.37	0.76949	1.546000	0.35787	7.571000	0.60712	0.599000	0.40250	0.945000	0.32849	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	14.604	0.68057	326	0.86709	.	.	.	.	.	.	Uncertain significance	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	78	chr17	8189288	.	C	T	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.261;DP=781;ExcessHet=0.0000;FS=3.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.418;SOR=1.085	GT:AD:DP:GQ:PL	0/1:44,34:78:99:857,0,1117	20	0	1	0
chr17	10444893	10444893	C	G	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon38:c.G5473C:p.E1825Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.884	P	0.962	D	0.002	U	1.000	D	2.435	M	-1.96	D	0.635	D	0.772	D	0.57	4.785	26.9	5.5	2.744	7.748	19.774	0.720	0.043961900711	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309927142	2.052e-06	2.052e-06	0	4.125e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.182	0.29249	T	0.884	0.48618	P	0.962	0.70672	D	0.001944	0.37596	U	0.000000	0.999999	0.58761	D	2.42	0.70002	M	-1.96	0.85091	D	-1.97	0.45587	N	0.441	0.47949	0.635	0.92348	D	0.772	0.92237	D	10	0.5063022	0.61838	D	0.043962	0.61252	D	0.720	0.90101	0.561	0.68093	0.968850998057	0.96851	0.1561665466704627	0.15537	0.625846089708	0.56744	0.693587601185	0.66221	T	0.338155	0.70745	T	0.138964	0.68227	D	-0.0381642	0.67824	D	0.964693367481232	0.67036	D	0.89781	0.64256	D	0.1628397	0.36387	0.19435266	0.43054	0.1628397	0.36386	0.19435266	0.43053	-11.005	0.79686	D	.	.	0.166	0.36594	B	.	.	4.731919	0.76216	26.5	0.99847789241272056	0.92750	0.99668	0.98504	D	AEFI	0.919976	0.89128	D	0.843135024339409	0.88714	9.683252	0.825351227834742	0.91499	10.917	0.999999991846724	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	7.858000	0.85341	7.593000	0.61311	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:1.0:0.0:0.0	19.774	0.96379	83	0.96533	Myosin tail	.	.	.	.	.	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	3290.98	248	chr17	10444893	.	C	G	3290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.27;SOR=0.721	GT:AD:DP:GQ:PL	0/1:122,126:248:99:3305,0,3176	20	0	1	0
chr17	10504902	10504902	G	T	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon22:c.C2599A:p.L867M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.75	P	0.493	P	0.002	U	0.980	N	3.475	M	-1.98	D	0.115	D	0.688	D	0.387	0.829	8.340	4.51	1.459	1.434	10.181	0.438	0.022174900929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.026	0.55759	D	0.75	0.43260	P	0.493	0.47443	P	0.001606	0.38497	U	0.000000	0.999929	0.19486	N	2.99	0.85699	M	-1.98	0.85247	D	-1.43	0.35194	N	0.526	0.55540	0.115	0.84442	D	0.688	0.89243	D	10	0.66456807	0.70351	D	0.022175	0.45042	T	0.438	0.74235	0.408	0.44230	0.820810188889	0.81911	0.21550633353285725	0.21466	0.485832983668	0.47462	0.45235234499	0.32265	T	0.48102	0.80976	T	0.0611275	0.59754	T	-0.149971	0.59246	T	0.899211764335632	0.55147	D	0.89651	0.63872	D	0.2280279	0.45514	0.18981925	0.42350	0.2280279	0.45514	0.18981925	0.42349	-9.23	0.69165	D	.	.	0.124	0.26169	B	.	.	3.073296	0.41320	21.3	0.99263366109164186	0.57289	0.63537	0.32120	D	AEFBI	0.274110	0.38937	N	0.0975901798143197	0.46350	2.876718	-0.0593271003740964	0.37089	2.166991	4.33321984620948E-4	0.06970	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	4.51	0.54589	1.846000	0.38929	3.897000	0.40328	0.672000	0.70159	0.856000	0.30544	1.000000	0.68203	0.002000	0.04165	0.0709:0.1373:0.7917:0.0	10.181	0.42146	177	0.93145	Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1315.98	119	chr17	10504902	.	G	T	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=806;ExcessHet=0.0000;FS=8.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-2.016e+00;SOR=1.256	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1330,0,1731	20	0	1	0
chr17	15503057	15503057	A	G	exonic	TVP23C	.	nonsynonymous SNV	TVP23C:NM_145301:exon6:c.T638C:p.L213P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.868	P	0.227	B	.	.	1.000	N	2.425	M	1.57	T	-1.027	T	0.075	T	0.392	1.147	9.670	-0.251	0.010	-0.517	8.714	0.131	0.00489923750304	.	.	8.284e-06	0	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs200444190	6.02e-05	6.02e-05	6.398e-05	5.638e-05	7.554e-05	4.961e-05	4.626e-05	6.234e-05	5.738e-05	2.988e-05	0	0	0	0	0	7.554e-05	4.967e-05	0	3.288e-05	3.284e-05	2.571e-05	4.038e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.002	0.72154	D	0.011	0.64786	D	0.868	0.47740	P	0.227	0.38084	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.57	0.29342	T	-0.78	0.21644	N	0.286	0.32370	-1.0268	0.21494	T	0.075	0.30148	T	9	0.106948525	0.19842	T	0.004899	0.12318	T	0.131	0.35738	0.431	0.48007	0.110078149338	0.10416	0.27202214944199904	0.27115	0.145674769398	0.16452	0.331975221634	0.15233	T	0.004192	0.03601	T	-0.201276	0.20621	T	-0.511409	0.21170	T	0.0963910181219348	0.11955	T	0.20328	0.02343	T	0.25312108	0.48332	0.17246287	0.39503	0.25312108	0.48332	0.17246287	0.39502	-3.673	0.18920	T	.	.	0.068	0.02829	B	.	.	0.964165	0.13410	9.915	0.83572795987996318	0.14800	0.01320	0.04563	N	ALL	0.070316	0.13953	N	-0.774560922984775	0.13975	0.6924918	-0.994046307004181	0.09918	0.4963113	0.999999999880103	0.74766	0.516213	0.21343	1	0.378119	0.05977	1	0.651303	0.49530	0	0.654926	0.60358	0	.	.	3.23	-0.251	0.12361	-0.513000	0.06389	-1.017000	0.06593	0.562000	0.28470	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6317:0.3683:0.0:0.0	8.714	0.33562	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	1	0	0	0	0.02381	982.98	84	chr17	15503057	.	A	G	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=903;ExcessHet=0.0000;FS=2.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.18;SOR=1.052	GT:AD:DP:GQ:PL	0/1:44,40:84:99:997,0,1180	20	0	1	0
chr17	15636073	15636073	C	G	exonic	TRIM16	.	nonsynonymous SNV	TRIM16:NM_001348121:exon5:c.G422C:p.R141T	.	.	421	1096	5	0	0	5	0.00227583	.	.	2814976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.689	P	0.242	B	0.000	U	0.997	N	1.78	L	-0.01	T	-0.880	T	0.191	T	0.296	-0.001	4.007	0.777	0.115	0.200	5.914	0.040	.	.	.	0.0108	0.0018	0.0080	0.0391	0.0062	0.0072	0.0045	0.0219	0.0111124	1718	154602	rs142902437	0.0003	0.0026	0.0003	0.0003	0.0020	0.0003	0.0003	0.0017	0.0015	0.0003	0.0002	0.0002	0.0020	0.0007	0	0.0002	0.0003	0.0011	0.0017	0.0055	0.0018	0.0016	0.0072	0.0015	0.0014	0.0052	0.0046	0.0007	0	0.0014	0.0006	0.0072	0.0012	0	0.0019	0.0010	0.0045	0.068	0.35726	T	0.022	0.57587	D	0.007	0.14184	B	0.011	0.15521	B	0.000075	0.52346	U	0.127194	0.996586	0.22968	N	2.19	0.61577	M	0.31	0.66834	T	-2.74	0.58248	D	0.093	0.34336	-0.8797	0.49786	T	0.191	0.54345	T	10	0.0040765405	0.00080	T	.	.	.	0.054	0.15330	.	.	.	.	0.335178000122452	0.33430	0.40539797669	0.41440	0.333759605885	0.15501	T	0.075344	0.35154	T	-0.352267	0.04586	T	-0.380751	0.35634	T	0.0196647825029475	0.00669	T	0.568143	0.20320	T	0.09388597	0.22060	0.08176437	0.18607	0.09388597	0.22060	0.08176437	0.18607	-4.312	0.28344	T	.	.	0.327	0.55039	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.885814	0.12589	9.119	0.293871150753654	0.01556	0.11249	0.16508	N	AEFGBHI	0.122829	0.23815	N	-0.861289901193496	0.11774	0.5700241	-0.948779146322556	0.10951	0.554927	0.0665572100857383	0.15397	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.97	0.777	0.17682	0.263000	0.18247	0.692000	0.20773	-1.689000	0.00774	0.123000	0.23227	0.163000	0.23278	0.028000	0.12845	0.0:0.6544:0.1581:0.1875	5.914	0.18285	809	0.43032	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	503.11	115	chr17	15636073	.	C	G	503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.762;DP=1081;ExcessHet=0.1072;FS=37.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.76;MQRankSum=-9.215e+00;QD=2.17;ReadPosRankSum=-9.320e-01;SOR=2.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,15:115:99:.:.:137,0,2756	19	0	2	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,16,0:16:48:719,48,0,720,48,720	5	7	8	0
chr17	16952521	16952521	G	T	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon2:c.C124A:p.P42T,	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.951	P	0.528	P	0.231	N	1.000	N	1.7	L	-3.15	D	-0.119	T	0.695	D	0.239	-1.184	0.081	-3.64	-0.651	-1.087	0.340	0.352	0.0274869755308	.	0.000199681	3.298e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs531640813	2.463e-05	2.463e-05	1.089e-05	3.85e-05	0.0004	1.803e-05	1.6e-05	0.0003	0.0002	0	0	0	0	0	0.0002	0	6.623e-05	0.0004	1.969e-05	1.968e-05	0	4.027e-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	0.141	0.25560	T	0.455	0.12776	T	0.057	0.22878	B	0.064	0.27215	B	0.231050	0.03518	N	1.603780	1	0.08975	N	1.575	0.39704	L	-3.15	0.92938	D	-1.77	0.41809	N	0.157	0.16308	-0.1190	0.79657	T	0.695	0.89470	D	10	0.09373364	0.16610	T	0.027487	0.50293	D	0.352	0.67326	0.199	0.11247	0.424549175451	0.42073	0.14456267367167974	0.14379	0.0433830160621	0.04671	0.305603504181	0.11242	T	0.557503	0.85128	D	-0.224205	0.17422	T	-0.259508	0.48873	T	0.574896633625031	0.35423	D	0.394361	0.11714	T	0.05149854	0.09466	0.06486243	0.13064	0.04696467	0.07948	0.0659812	0.13451	-5.678	0.43497	T	0.20344493633235	0.27087	0.106	0.19879	B	.;.	.;.	0.400050	0.07713	4.391	0.46161582567956733	0.03677	0.01643	0.05285	N	AEFDBCI	0.027266	0.02199	N	-1.01289436219887	0.08336	0.3904803	-1.21757469892538	0.05627	0.2686515	0.999994998511466	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	3.22	-3.64	0.04225	-0.975000	0.03900	-1.155000	0.06169	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.234000	0.22842	0.2242:0.1648:0.2763:0.3347	0.340	0.00310	534	0.73357	TACI, cysteine-rich domain;TACI, cysteine-rich 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	1	0	0	0	0.02381	594.98	71	chr17	16952521	.	G	T	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.056e+00;DP=804;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=-4.330e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:42,29:71:99:609,0,1050	20	0	1	0
chr17	17794090	17794090	C	T	exonic	RAI1	.	nonsynonymous SNV	RAI1:NM_030665:exon3:c.C1142T:p.A381V,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	1	1515	6	0	0	6	0.00197628	.	.	102071	not_provided|Smith-Magenis_syndrome|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.976	D	0.696	P	0.005	N	1.000	D	1.935	M	1.44	T	-0.975	T	0.106	T	0.67	3.010	16.04	5.55	2.621	3.141	19.494	0.193	.	0.0036	0.00299521	0.0036	0.0013	0.0041	0	0.0006	0.0054	0.0044	0.0006	0.0035705	552	154602	rs113208290	0.0045	0.0045	0.0045	0.0045	0.0051	0.0044	0.0044	0.0048	0.0048	0.0008	0.0051	0.0134	0	0.0008	0.0047	0.0049	0.0056	0.0008	0.0040	0.0040	0.0041	0.0039	0.0081	0.0037	0.0036	0.0069	0.0065	0.0013	0	0.0081	0.0138	0.0002	0.0009	0.0102	0.0052	0.0047	0.0010	0.002	0.72154	D	0.057	0.46406	T	0.976	0.58310	D	0.696	0.54017	P	0.004764	0.33407	N	0.298968	0.99992	0.51308	D	1.955	0.52871	M	1.44	0.32722	T	-1.33	0.55339	N	0.506	0.53796	-0.9751	0.36104	T	0.106	0.38611	T	10	0.007868499	0.00179	T	.	.	.	0.193	0.47281	.	.	0.117191471859	0.11215	0.3903836673548236	0.38953	0.354127082392	0.37196	0.421463221312	0.28038	T	0.094197	0.39367	T	-0.311477	0.07620	T	-0.217857	0.52942	T	0.0273435220180576	0.01593	T	0.865113	0.56350	D	0.10556923	0.24961	0.15154576	0.35694	0.11847794	0.27914	0.1756728	0.40049	-4.531	0.31292	T	0.3811925489293024	0.47560	0.099	0.16713	B	.;.;.	.;.;.	3.703170	0.52822	23.3	0.99903370039741779	0.97502	0.96446	0.69180	D	AEFBI	0.557196	0.56692	D	0.333544258906735	0.57877	3.956975	0.273534033604529	0.54000	3.566356	0.999999999338325	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.61531	0.40942	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	3.897000	0.55986	5.927000	0.51257	0.599000	0.40250	0.978000	0.35038	1.000000	0.68203	0.042000	0.14466	0.0:1.0:0.0:0.0	19.494	0.95058	313	0.87327	.;.;.	.	.	.	.	.	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	8237.11	266	chr17	17794090	.	C	T	8237.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=3245;ExcessHet=0.1072;FS=1.737;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=0.898;SOR=0.598	GT:AD:DP:GQ:PL	0/1:117,149:266:99:4273,0,3049	19	0	2	0
chr17	28979715	28979715	T	G	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon3:c.A823C:p.I275L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.011	B	0.000	D	1.000	D	2.19	M	0.13	T	-0.573	T	0.208	T	0.599	3.178	16.63	5.26	1.998	2.568	13.122	0.288	0.0176355087994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.49117	T	0.019	0.59159	D	0.001	0.07471	B	0.004	0.10090	B	0.000106	0.50451	D	0.077839	0.70769	0.33486	D	2.56	0.74772	M	0.13	0.60973	T	-1.46	0.39887	N	0.536	0.56748	-0.5730	0.65895	T	0.208	0.56744	T	10	0.35929984	0.52601	T	0.017636	0.39418	T	0.288	0.60691	0.604	0.73586	0.694220761729	0.69158	0.6637739966128213	0.66314	0.268677020668	0.29385	0.671018660069	0.62983	T	0.040913	0.44273	T	0.0161306	0.53857	T	-0.214606	0.53255	T	0.914838790893555	0.57163	D	0.912709	0.70849	D	0.19136705	0.40761	0.15465239	0.36287	0.19136705	0.40761	0.15465239	0.36286	-6.361	0.49244	T	.	.	0.279	0.51192	B	.;.;.;.;.	.;.;.;.;.	3.159035	0.42797	21.6	0.97965949258802565	0.37217	0.89676	0.50294	D	AEFBI	0.427657	0.49151	N	0.0211986809344497	0.42819	2.587236	0.158313116796338	0.47585	2.986469	0.974319521508469	0.29531	0.706298	0.61202	0	0.626922	0.53725	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	2.040000	0.40824	6.082000	0.53358	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.122	0.58746	296	0.88164	.;.;.;.;.	.	.	.	.	.	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	1870.98	194	chr17	28979715	.	T	G	1870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=964;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=-1.862e+00;SOR=0.687	GT:AD:DP:GQ:PL	0/1:111,83:194:99:1885,0,2589	20	0	1	0
chr17	35478146	35478146	G	A	exonic	SLFN12L	.	nonsynonymous SNV	SLFN12L:NM_001195790:exon3:c.C1133T:p.P378L	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.565	P	0.064	B	.	.	1.000	N	1.32	L	3.95	T	-0.978	T	0.004	T	0.044	0.070	4.379	-1.09	-0.832	-1.301	5.490	0.029	.	0.0114	0.00439297	0.0073	0.0014	0.0122	0	0.0129	0.0140	0.0122	0.0005	0.0024967	386	154602	rs117367639	0.0093	0.0098	0.0094	0.0092	0.0107	0.0092	0.0091	0.0105	0.0105	0.0019	0.0061	0.0046	0	0.0119	0.0056	0.0107	0.0076	0.0004	0.0086	0.0086	0.0090	0.0081	0.0140	0.0082	0.0080	0.0133	0.0130	0.0024	0.0011	0.0065	0.0043	0	0.0109	0.0034	0.0140	0.0090	0.0004	0.074	0.34621	T	0.073	0.45110	T	0.565	0.38434	P	0.064	0.27215	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	3.85	0.03650	T	-1.78	0.42001	N	0.05	0.02179	-0.9783	0.35390	T	0.004	0.01400	T	9	0.0046623945	0.00098	T	.	.	.	0.029	0.06676	.	.	0.0138822411134	0.00435	0.0744660839113748	0.07382	0.0420540668612	0.04528	0.30456161499	0.11085	T	0.100059	0.40549	T	-0.735498	0.00022	T	-0.816944	0.01515	T	0.00201834093150594	0.00021	T	0.540346	0.18307	T	0.028287716	0.02144	0.044515748	0.05784	0.028287716	0.02144	0.044515748	0.05784	-3.446	0.17139	T	.	.	0.075	0.05845	B	.;.;.	.;.;.	0.122410	0.05197	1.709	0.44616923131574243	0.03443	0.00319	0.01677	N	AEFBI	0.022650	0.01160	N	-1.55612185547276	0.01499	0.06545565	-1.72114620926018	0.01047	0.04697938	0.0081806810878418	0.11625	0.614807	0.35715	0	0.53679	0.11191	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	1.27	-1.09	0.09397	-0.807000	0.04627	-1.847000	0.04619	-2.227000	0.00346	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4534:0.0:0.5466:0.0	5.490	0.16061	240	0.90628	.;.;.	.	.	.	.	rs117367639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1387.98	77	chr17	35478146	.	G	A	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=1249;ExcessHet=0.0000;FS=0.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.03;ReadPosRankSum=1.19;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,37:77:99:0|1:35478146_G_A:1402,0,1528:35478146	20	0	1	0
chr17	35478153	35478153	A	G	exonic	SLFN12L	.	nonsynonymous SNV	SLFN12L:NM_001195790:exon3:c.T1126C:p.S376P	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.991	D	0.934	D	.	.	1.000	N	1.365	L	3.83	T	-1.012	T	0.012	T	0.175	1.578	11.23	-0.012	-0.046	0.668	3.181	0.023	.	0.0114	0.00439297	0.0073	0.0014	0.0122	0	0.0129	0.0139	0.0122	0.0005	0.0027167	420	154602	rs117580717	0.0092	0.0098	0.0093	0.0091	0.0106	0.0091	0.0090	0.0104	0.0103	0.0018	0.0061	0.0047	0	0.0119	0.0056	0.0106	0.0076	0.0005	0.0086	0.0086	0.0091	0.0081	0.0141	0.0082	0.0080	0.0133	0.0130	0.0024	0.0011	0.0065	0.0043	0	0.0109	0.0034	0.0141	0.0090	0.0004	0.007	0.59928	D	0.088	0.48594	T	0.991	0.64070	D	0.934	0.66904	D	.	.	.	.	1	0.08975	N	1.72	0.44442	L	3.73	0.03982	T	-1.6	0.38540	N	0.05	0.02272	-1.0119	0.26322	T	0.012	0.04700	T	9	0.007549852	0.00171	T	.	.	.	0.023	0.04649	.	.	0.117506650769	0.11410	0.13273221207183752	0.13197	0.0966914335435	0.10917	0.345599353313	0.17271	T	0.125862	0.45185	T	-0.587309	0.00174	T	-0.604081	0.12471	T	0.0275106944214398	0.01618	T	0.354665	0.08016	T	0.20514667	0.42647	0.14884363	0.35167	0.20514667	0.42647	0.14884363	0.35166	-3.633	0.18891	T	.	.	0.070	0.04599	B	.;.;.	.;.;.	1.243243	0.16394	12.51	0.96402015259257812	0.29692	0.00840	0.03368	N	AEFBI	0.059837	0.11331	N	-0.499015071945743	0.22112	1.178476	-0.79485114765414	0.14621	0.7649108	0.00438238755227079	0.10527	0.614807	0.35715	0	0.53679	0.11191	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	1.27	-0.0121	0.13314	0.595000	0.23729	0.439000	0.18405	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.62:0.0:0.0:0.38	3.181	0.06192	240	0.90628	.;.;.	.	.	.	.	rs117580717	Likely benign	0	0	0	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	1357.98	79	chr17	35478153	.	A	G	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.600e-02;DP=1251;ExcessHet=0.0000;FS=0.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.19;ReadPosRankSum=1.73;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,36:79:99:0|1:35478146_G_A:1372,0,1657:35478146	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	0/1:36,61:97:99:1019,0,246	0	0	21	0
chr17	38510452	38510452	C	G	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon24:c.C3956G:p.A1319G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.944	P	0.478	P	.	.	1.000	N	1.15	L	2.44	T	-1.077	T	0.045	T	0.164	1.943	12.45	3.48	1.483	3.320	13.712	0.048	0.588007243411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.765e-06	5.473e-06	5.35e-06	1.994e-06	3.302e-06	8.8e-07	5.9e-07	8.8e-07	2.4e-07	0	0	0	0	0	0	3.302e-06	2.368e-05	0	6.705e-06	6.579e-06	1.309e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-05	0	0	.	.	.	0.027	0.55341	D	0.944	0.53183	P	0.478	0.47030	P	.	.	.	.	0.987806	0.24479	N	2.175	0.60977	M	.	.	.	.	.	.	0.079	0.05414	-1.0765	0.08043	T	0.045	0.19437	T	9	0.28084832	0.45661	T	0.588007	0.96331	D	.	.	.	.	0.442672919754	0.43885	0.3208209668296267	0.31995	.	.	0.927289128304	0.98827	D	0.015034	0.12687	T	-0.106535	0.35342	T	-0.390807	0.34458	T	0.788256883621216	0.45575	D	.	.	.	0.2121467	0.43558	0.37942573	0.62998	0.2121467	0.43558	0.37942573	0.62998	-5.274	0.39685	T	.	.	0.428	0.61083	A	.	.	3.770791	0.54161	23.5	0.97511539048553708	0.34352	0.61978	0.31644	D	AEFDBHCIJ	0.208430	0.33451	N	0.0846516744171954	0.45749	2.826141	0.0374314084795725	0.41469	2.491826	0.999999999992192	0.74766	0.72623	0.87236	0	0.61073	0.52368	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.48	3.48	0.38946	2.391000	0.44078	3.182000	0.36662	0.430000	0.20916	0.978000	0.35038	1.000000	0.68203	0.495000	0.28905	0.0:1.0:0.0:0.0	13.712	0.62154	178	0.93097	.	.	.	.	.	.	Uncertain significance	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	329.98	29	chr17	38510452	.	C	G	329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.670e-01;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.417;SOR=0.741	GT:AD:DP:GQ:PL	0/1:13,16:29:99:344,0,246	20	0	1	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V	.	.	426	1085	10	1	0	12	0.00549954	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.005	B	0.004	B	0.449	N	1.000	N	0	N	4.38	T	-0.929	T	0.011	T	0.029	-0.037	3.823	-5.48	-0.850	-0.444	5.690	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	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	1	0	0	0	0.04762	2559.11	115	chr17	39829479	.	G	A	2559.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.840e-01;DP=896;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-4.050e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1473,0,1290	19	0	2	0
chr17	40781223	40781225	ATC	-	exonic	KRT27	.	nonframeshift deletion	KRT27:NM_181537:exon2:c.490_492del:p.D164del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1274.94	65	chr17	40781222	.	TATC	T	1274.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.670e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.61;ReadPosRankSum=-2.153e+00;SOR=0.634	GT:AD:DP:GQ:PL	0/1:32,33:65:99:1289,0,1244	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,20,0:242:99:0|1:41041286_G_T:172,0,8972,840,9032,9872:41041286	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|2:235,0,20:255:99:0|1:41041286_G_T:133,840,10211,0,9371,9311:41041286	10	0	1	1
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	1/1:0,61,0:98:99:2605,158,0,3236,829,7490	6	11	3	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.001	T	0.077	T	.	0.422	6.290	0.668	0.179	-0.690	6.907	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Uncertain significance	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	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,18,0:54:99:0|1:43209576_C_T:306,0,844,413,896,1309:43209576	2	0	4	13
chr17	43209576	43209576	C	G	exonic	NBR1	.	stopgain	NBR1:NM_001291571:exon21:c.C2747G:p.S916X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.966	N	.	.	.	.	.	.	.	.	.	0.298	5.615	0.668	0.179	-0.690	6.907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983113	0.39974	D	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.411962	0.01929	T	-0.829532	0.01270	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115114	0.05136	1.662	0.67607967295508664	0.08405	0.08425	0.14356	N	AEFBI	0.032893	0.03801	N	-0.577608091250192	0.19625	1.028636	-0.768591458878559	0.15266	0.8020448	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Uncertain significance	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	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,18,0:54:99:0|1:43209576_C_T:306,0,844,413,896,1309:43209576	2	0	4	13
chr17	45242070	45242070	-	CCG	exonic	FMNL1	.	nonframeshift insertion	FMNL1:NM_005892:exon15:c.1809_1810insCCG:p.P612_G613insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5739.79	40	chr17	45242067	.	TCCG	T,TCCGCCG	5739.79	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-3.300e-02;DP=925;ExcessHet=1.1607;FS=1.351;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=-7.100e-02;SOR=0.799	GT:AD:DP:GQ:PL	0/2:22,0,18:40:99:676,742,1631,0,889,834	16	0	3	0
chr17	53823305	53823305	C	T	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.C272T:p.P91L,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.607	P	0.075	B	0.543	U	1.000	N	1.28	L	-0.9	T	-0.960	T	0.154	T	0.198	0.218	5.173	-5.63	-1.091	-1.058	1.091	0.198	0.0179222517418	0.0008	0.000399361	0.0009	0	0.0010	0	0.0003	0.0013	0.0033	0.0004	0.0008926	138	154602	rs145539514	0.0011	0.0011	0.0011	0.0010	0.0104	0.0010	0.0010	0.0083	0.0075	0.0004	0.0010	0.0023	0	0.0003	0.0104	0.0011	0.0011	0.0006	0.0008	0.0008	0.0009	0.0006	0.0013	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0013	0.0040	0.0002	0.0002	0.0102	0.0009	0.0009	0.0002	0.012	0.54683	D	0.043	0.49942	D	0.607	0.39488	P	0.075	0.28327	B	0.542547	0.11521	U	0.705286	1	0.08975	N	1.805	0.47535	L	-0.9	0.74896	T	-0.92	0.24676	N	0.33	0.37093	-0.9596	0.39255	T	0.154	0.48378	T	10	0.010518253	0.00234	T	0.017922	0.39803	T	0.198	0.48105	.	.	0.76020778673	0.75803	0.20594814770359876	0.20511	0.0992374294878	0.11216	0.240060791373	0.02796	T	0.006992	0.06413	T	-0.424962	0.01591	T	-0.428756	0.30077	T	0.016357228279504	0.00404	T	0.377062	0.09013	T	0.036736734	0.04578	0.034541283	0.02538	0.036736734	0.04578	0.034541283	0.02538	-4.095	0.25216	T	.	.	0.061	0.01042	B	.	.	-0.345280	0.02425	0.274	0.88546495760457522	0.18062	0.07837	0.13830	N	AEFDBCI	0.048171	0.08193	N	-0.971001501926179	0.09227	0.4358244	-1.15206478568342	0.06730	0.3249779	5.83277591811003E-4	0.07390	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	4.86	-5.63	0.02276	-1.029000	0.03696	-2.550000	0.03620	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3126:0.3381:0.1018:0.2476	1.091	0.01559	894	0.26265	.	.	.	.	.	.	Uncertain significance	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	2687.98	188	chr17	53823305	.	C	T	2687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=892;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.676;SOR=0.735	GT:AD:DP:GQ:PL	0/1:92,96:188:99:2702,0,2294	20	0	1	0
chr17	54949592	54949597	GAGTCT	-	exonic	TOM1L1	.	nonframeshift deletion	TOM1L1:NM_001321174:exon11:c.1026_1031del:p.S343_L344del	.	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00938498	0.0059	0	0.0002	0	0	1.502e-05	0.0022	0.0430	0.0001537	4	26028	rs574392654	0.0025	0.0025	0.0015	0.0035	0.0388	0.0024	0.0024	0.0377	0.0373	8.963e-05	4.472e-05	3.827e-05	0.0001	1.872e-05	0.0026	1.259e-05	0.0033	0.0388	0.0015	0.0015	0.0008	0.0022	0.0452	0.0013	0.0013	0.0403	0.0384	7.218e-05	0	6.534e-05	0	0	0	0	0	0.0009	0.0452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2528.94	142	chr17	54949591	.	AGAGTCT	A	2528.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.550e-01;DP=850;ExcessHet=0.0000;FS=1.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.81;ReadPosRankSum=-4.150e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/1:76,66:142:99:2543,0,2992	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	0/1:30,18:48:47:47,0,265	8	0	11	2
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.918	D	0.001	N	0.981	D	3.07	M	-4.04	D	1.043	D	0.927	D	0.189	3.234	16.84	3.89	2.180	0.319	9.244	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding 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	0.2143	416.88	220	chr17	63941038	.	C	G	416.88	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-5.194e+00;DP=3372;ExcessHet=1.7912;FS=313.201;InbreedingCoeff=-0.3107;MLEAC=8;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=0.282;SOR=13.047	GT:AD:DP:GQ:PL	0/1:137,54:220:68:68,0,2842	8	0	6	7
chr17	64534702	64534702	G	A	exonic	CEP95	.	nonsynonymous SNV	CEP95:NM_001316990:exon16:c.G1543A:p.A515T	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.97	D	0.676	P	0.000	D	1.000	D	2.175	M	0.57	T	-0.540	T	0.246	T	0.549	3.381	17.41	3.71	0.812	5.226	14.930	0.197	0.0313778178004	.	.	1.926e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs782554224	5.477e-06	6.156e-06	5.449e-06	5.506e-06	5.811e-05	2.36e-06	1.7e-06	2.198e-05	1.433e-05	0	0	0	2.523e-05	0	0	8.998e-07	1.657e-05	5.811e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	0.97	0.56973	D	0.676	0.53321	P	0.000016	0.62929	D	0.112665	0.998543	0.45064	D	2.595	0.75868	M	0.38	0.57575	T	-2.61	0.56144	D	0.597	0.61596	-0.5400	0.67163	T	0.246	0.61530	T	10	0.46684518	0.59622	T	0.031378	0.53475	D	0.197	0.47942	0.296	0.26041	0.745669495734	0.74337	0.30433117211636534	0.30346	0.129564647105	0.14605	0.486356794834	0.36934	T	0.256056	0.72339	T	-0.104931	0.35609	T	-0.206356	0.54044	T	0.878556609153748	0.52849	D	0.911709	0.68653	D	0.31179148	0.53941	0.36288977	0.61686	0.31179148	0.53941	0.36288977	0.61685	-8.513	0.64515	D	.	.	0.246	0.48018	B	.;.	.;.	3.281216	0.44954	22.0	0.99815049657354282	0.89885	0.93356	0.57998	D	AEFBCI	0.602061	0.59407	D	0.28927709854192	0.55604	3.72446	0.203033482899841	0.50016	3.198075	0.999611866346642	0.40981	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.76	3.71	0.41733	5.404000	0.66088	7.085000	0.57485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:0.725:0.275	14.930	0.70558	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	513.98	61	chr17	64534702	.	G	A	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.058e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-1.621e+00;SOR=0.705	GT:AD:DP:GQ:PL	0/1:36,25:61:99:528,0,999	20	0	1	0
chr17	72649203	72649203	C	T	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon8:c.G758A:p.R253Q	.	.	436	1064	20	2	0	24	0.0111524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.903	P	0.234	B	0.000	D	1.000	D	2.535	M	0.82	T	-0.780	T	0.119	T	0.897	3.502	17.90	5.05	2.504	5.267	18.377	0.265	0.0162805234454	0.0056	0.00279553	0.0054	0.0007	0.0017	0.0001	0.0015	0.0074	0.0068	0.0073	0.0054462	842	154602	rs150096159	0.0077	0.0077	0.0077	0.0077	0.0089	0.0076	0.0075	0.0087	0.0087	0.0007	0.0026	0.0008	2.519e-05	0.0021	0.0028	0.0089	0.0073	0.0077	0.0055	0.0055	0.0061	0.0049	0.0086	0.0052	0.0051	0.0080	0.0078	0.0014	0.0789	0.0038	0.0006	0	0.0024	0.0068	0.0086	0.0047	0.0064	0.155	0.24183	T	0.096	0.39340	T	0.882	0.49795	P	0.209	0.38393	B	0.000002	0.62929	D	0.000000	1	0.81001	D	2.925	0.84406	M	0.82	0.48142	T	-1.35	0.34596	N	0.923	0.92667	-0.7797	0.56320	T	0.119	0.41648	T	10	0.008786321	0.00199	T	0.016281	0.37459	T	0.265	0.57870	.	.	0.456919554969	0.45315	0.8221848913959761	0.82175	0.300736836408	0.32425	0.691533386707	0.65927	T	0.011385	0.10166	T	-0.0934844	0.37499	T	0.100331	0.76931	D	0.0356843433398387	0.02925	T	.	.	.	0.228622	0.45585	0.16280235	0.37798	0.228622	0.45585	0.16280235	0.37798	-7.955	0.61186	D	.	.	0.118	0.38569	B	.;.;.	.;.;.	3.655406	0.51903	23.2	0.99150535434693465	0.53793	0.97463	0.74912	D	AEFDI	0.712331	0.66549	D	0.486916796063196	0.66324	4.935602	0.519114463322022	0.69278	5.337484	0.999999896759896	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.05	5.05	0.67566	7.089000	0.76571	5.892000	0.50774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.377	0.90380	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	941.98	76	chr17	72649203	.	C	T	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=804;ExcessHet=0.0000;FS=1.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.728;SOR=0.941	GT:AD:DP:GQ:PL	0/1:40,36:76:99:956,0,919	20	0	1	0
chr17	73031671	73031671	A	G	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon4:c.T191C:p.V64A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.486	P	0.393	B	0.000	D	0.677	N	0.595	N	0.81	T	-0.838	T	0.114	T	0.46	3.210	16.75	5.09	1.923	8.105	13.711	0.277	0.0168911994942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.486	0.36871	P	0.199	0.44248	B	0.000078	0.52346	D	0.124635	0.676821	0.30314	N	1.165	0.29723	L	0.81	0.48460	T	-3.44	0.67477	D	0.439	0.47765	-0.8377	0.52799	T	0.114	0.40490	T	10	0.67173934	0.70754	D	0.016891	0.38356	T	0.277	0.59375	0.694	0.83126	0.561065777782	0.55768	0.5889777521501887	0.58827	0.32761299125	0.34895	0.580468416214	0.50151	T	0.073142	0.49054	T	-0.0280985	0.47693	T	-0.278138	0.46995	T	0.983349561691284	0.75046	D	.	.	.	0.5190309	0.68204	0.5556512	0.74299	0.5190309	0.68205	0.5556512	0.74300	-9.729	0.72273	D	.	.	0.366	0.57610	A	.;.;.;.;.	.;.;.;.;.	3.883755	0.56469	23.7	0.99620490023098618	0.75413	0.88014	0.47761	D	AEFDGBCI	0.842565	0.75967	D	0.0424657913717879	0.43796	2.665642	0.119880068768173	0.45566	2.817561	0.999999853601774	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.09	5.09	0.68647	8.345000	0.89961	11.119000	0.86504	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.845000	0.39915	1.0:0.0:0.0:0.0	13.711	0.62150	653	0.62661	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2057.98	164	chr17	73031671	.	A	G	2057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e+00;DP=1042;ExcessHet=0.0000;FS=1.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.120e+00;SOR=0.523	GT:AD:DP:GQ:PL	0/1:83,81:164:99:2072,0,2369	20	0	1	0
chr17	73379535	73379535	T	C	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon35:c.A4777G:p.R1593G,	.	.	.	.	.	.	.	.	.	.	.	3310502	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.926	P	0.599	P	0.000	D	0.679	D	1.115	L	0.31	T	-0.596	T	0.187	T	0.426	3.407	17.51	2.39	0.314	1.733	13.991	0.160	0.132350197829	7.7e-05	0.000199681	0.0001	9.97e-05	8.777e-05	0	0	0	0	0.0010	0.0001164	18	154602	rs373146531	5.413e-05	5.814e-05	3e-05	7.852e-05	0.0008	4.418e-05	4.089e-05	0.0007	0.0006	0	0	0	0	0	0.0003	4.502e-06	4.977e-05	0.0008	3.95e-05	3.939e-05	5.149e-05	2.694e-05	0.0008	1.718e-05	1.131e-05	0.0003	0.0002	2.415e-05	0	0	0	0	0	0	1.472e-05	0	0.0008	0.002	0.72154	D	0.004	0.74150	D	0.429	0.35556	B	0.261	0.39516	B	0.000198	0.48115	D	0.189690	0.678872	0.33214	D	1.995	0.54099	M	0.31	0.58613	T	-5.6	0.86608	D	0.563	0.58713	-0.5964	0.64963	T	0.187	0.53691	T	10	0.095333576	0.17020	T	0.13235	0.81467	D	0.160	0.41473	.	.	0.679174988471	0.67644	0.5634425636179791	0.56271	0.649840080284	0.58279	0.304615288973	0.11093	T	0.184343	0.53696	T	-0.305176	0.08180	T	-0.278617	0.46945	T	0.33330316849645	0.26357	T	0.974303	0.90829	D	0.6876294	0.77383	0.6411479	0.79033	0.6876294	0.77384	0.6411479	0.79034	-6.644	0.51388	T	.	.	0.301	0.61244	B	.;.	.;.	2.996821	0.40031	21.1	0.99680769524278146	0.79241	0.93186	0.57550	D	AEFDGBI	0.557087	0.56686	D	-7.01082320798407e-05	0.41853	2.510855	0.0210154604005285	0.40692	2.432581	0.311205950302883	0.19288	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.564101	0.26826	0	.	.	4.61	2.39	0.28492	1.704000	0.37476	1.194000	0.24787	-0.157000	0.11712	1.000000	0.71638	0.903000	0.28003	0.745000	0.35611	0.0:0.0:0.645:0.355	13.991	0.63881	468	0.78227	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	117	chr17	73379535	.	T	C	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.180e-01;DP=840;ExcessHet=0.0000;FS=7.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=2.61;SOR=0.808	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1267,0,1626	20	0	1	0
chr17	76137670	76137670	C	T	exonic	FOXJ1	.	nonsynonymous SNV	FOXJ1:NM_001454:exon3:c.G949A:p.A317T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.0	B	0.036	N	1.000	N	1.445	L	-3.24	D	-0.551	T	0.562	D	0.065	-0.500	1.707	-0.776	-0.701	-0.586	5.005	0.199	0.0600450471735	.	.	3.875e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs367916894	2.74e-05	2.805e-05	2.181e-05	3.305e-05	0.0002	2.065e-05	1.818e-05	9.808e-05	7.851e-05	2.988e-05	0	0	2.521e-05	0	0	2.069e-05	1.658e-05	0.0002	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	0.684	0.04379	T	0.729	0.05184	T	0.001	0.07471	B	0.0	0.01387	B	0.035979	0.24579	N	0.458109	1	0.08975	N	0.915	0.23335	L	-3.24	0.93474	D	0.4	0.03463	N	0.043	0.01577	-0.5507	0.66760	T	0.562	0.84078	D	10	0.02360636	0.00622	T	0.060045	0.67869	D	0.199	0.48268	0.301	0.26843	0.332801854358	0.32887	0.17387429298476237	0.17307	0.327201205818	0.34854	0.458713650703	0.33134	T	0.147547	0.48568	T	-0.311203	0.07643	T	-0.405363	0.32762	T	0.00790949263449911	0.00093	T	0.60194	0.22516	T	0.022806004	0.00971	0.058980428	0.10991	0.022806004	0.00970	0.058980428	0.10991	-4.339	0.28720	T	.	.	0.068	0.02765	B	.	.	0.173691	0.05623	2.075	0.89606552721577315	0.18942	0.10941	0.16299	N	AEFDBCI	0.088245	0.17890	N	-1.45633877496827	0.02167	0.09540919	-1.43023702371421	0.02954	0.136888	0.999643258277777	0.41316	0.766844	0.99359	0	0.59043	0.45803	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	4.92	-0.776	0.10430	-0.429000	0.07051	.	.	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.668000	0.33194	0.2199:0.3763:0.0:0.4038	5.005	0.13630	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	1252.98	98	chr17	76137670	.	C	T	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.020e-01;DP=802;ExcessHet=0.0000;FS=0.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.566;SOR=0.824	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1267,0,1062	20	0	1	0
chr17	76688271	76688271	G	A	exonic	MXRA7	.	nonsynonymous SNV	MXRA7:NM_001363769:exon1:c.C377T:p.S126L,	.	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081869	0.0058	0.0456	0.0037	0	0	0.0002	0	0	0.0024967	386	154602	rs116480875	0.0010	0.0010	0.0011	0.0008	0.0336	0.0009	0.0009	0.0319	0.0313	0.0336	0.0020	0	2.576e-05	0	0.0036	2.94e-05	0.0021	0.0001	0.0095	0.0095	0.0092	0.0099	0.0330	0.0091	0.0089	0.0316	0.0310	0.0330	0	0.0038	0	0	0	0	0.0001	0.0047	0	.	.	.	0.214	0.26386	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.0030620992	0.00050	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.008208541825647522	0.00785	.	.	.	.	.	.	.	.	-0.800884	0.00008	T	-0.897428	0.00521	T	.	.	.	0.474053	0.14146	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.24967	B	.	.	-0.704976	0.01309	0.071	0.52814271433055304	0.04819	0.02014	0.06055	N	AEFDGBHCI	0.056430	0.10432	N	.	.	.	.	.	.	0.999999999958816	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	3.3	-6.61	0.01652	-2.012000	0.01539	.	.	-0.755000	0.03551	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1069:0.2447:0.3107:0.3377	1.945	0.03150	810	0.42761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2199.98	140	chr17	76688271	.	G	A	2199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=841;ExcessHet=0.0000;FS=1.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=-1.290e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/1:57,83:140:99:2214,0,1235	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,58,0:98:99:0|1:80090158_A_G:2037,0,1489,2158,1663,3821:80090158	1	6	9	4
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,73,0:75:99:1|1:80090158_A_G:2248,125,0,2254,209,2338:80090158	1	7	4	7
chr17	80184162	80184162	G	A	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon4:c.G599A:p.S200N	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	0	1494	25	1	2	29	0.00895522	.	.	79677	Pityriasis_rubra_pilaris|Psoriasis_2|not_provided|Autoinflammatory_syndrome	MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.365	N	1.000	N	-0.46	N	1.38	T	-0.992	T	0.017	T	0.012	-2.373	0.004	-3.66	-0.492	-0.119	5.853	0.019	.	.	0.00219649	0.0110	0.0025	0.0058	0	0.0037	0.0140	0.0190	0.0120	0.0047218	730	154602	rs114688446	0.0076	0.0075	0.0074	0.0077	0.0082	0.0074	0.0074	0.0077	0.0077	0.0009	0.0022	0.0193	0	0.0055	0.0076	0.0079	0.0093	0.0082	0.0059	0.0059	0.0061	0.0058	0.0088	0.0056	0.0055	0.0082	0.0080	0.0012	0.0263	0.0052	0.0141	0	0.0052	0.0136	0.0088	0.0038	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.364763	0.13616	N	0.717962	1	0.08975	N	0.025	0.08010	N	1.38	0.34050	T	1.25	0.01011	N	0.044	0.01658	-0.9915	0.32218	T	0.017	0.07092	T	10	0.003829211	0.00072	T	.	.	.	0.019	0.03383	.	.	0.402471007487	0.39861	0.04298658703997481	0.04243	0.137527042465	0.15505	0.439996689558	0.30577	T	0.004751	0.04164	T	-0.738554	0.00021	T	-0.826125	0.01333	T	0.000785814729074534	0.00007	T	0.552145	0.19060	T	0.03255677	0.03305	0.05866523	0.10878	0.039173733	0.05359	0.060511973	0.11535	-6.907	0.54789	T	0.1199088770354703	0.11220	0.097	0.15966	B	.;.;.;.	.;.;.;.	-0.966692	0.00820	0.028	0.19516134826937834	0.00662	0.00717	0.03025	N	AEFDBI	0.032680	0.03735	N	-1.67117466872922	0.00949	0.04110583	-1.68207961245203	0.01218	0.0548863	0.0168506280012361	0.12881	0.549168	0.22868	0	0.627178	0.54094	0	0.505578	0.09266	0	0.542086	0.14980	0	.	.	3.58	-3.66	0.04200	-0.279000	0.08512	-0.062000	0.12412	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.5403:0.1435:0.3162:0.0	5.853	0.17952	884	0.28482	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2253.98	177	chr17	80184162	.	G	A	2253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=1059;ExcessHet=0.0000;FS=5.338;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.244;SOR=0.498	GT:AD:DP:GQ:PL	0/1:87,90:177:99:2268,0,2271	20	0	1	0
chr17	82316217	82316217	G	A	exonic	CD7	.	nonsynonymous SNV	CD7:NM_006137:exon3:c.C590T:p.A197V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.054	B	0.004	B	0.128	N	1.000	N	-0.345	N	2.11	T	-1.010	T	0.020	T	0.079	-0.024	3.891	0.903	0.167	-0.333	4.669	0.017	0.00456283346252	.	0.000199681	0.0002	0	0	0.0010	0	0	0	0.0004	7.12e-05	11	154602	rs75967263	2.337e-05	2.941e-05	2.66e-05	2.006e-05	0.0004	1.667e-05	1.466e-05	0.0001	0.0001	0	0	0	0.0003	0	0.0004	1.289e-05	0	8.694e-05	5.253e-05	5.249e-05	5.14e-05	5.372e-05	0.0010	2.556e-05	1.829e-05	0.0004	0.0002	2.405e-05	0	0	0	0.0010	0	0	1.47e-05	0.0005	0	1.0	0.00964	T	1.0	0.92824	T	0.054	0.22658	B	0.004	0.10090	B	0.127550	0.02780	N	1.880180	1	0.08975	N	-0.425	0.02884	N	1.46	0.40218	T	0.73	0.02068	N	0.017	0.02179	-1.0102	0.26854	T	0.020	0.08360	T	10	0.012096196	0.00261	T	0.004563	0.11252	T	0.017	0.02790	.	.	0.0762999501168	0.06990	0.228138269338464	0.22728	0.13491142869	0.15200	0.321971803904	0.13721	T	0.009665	0.20077	T	-0.599939	0.00146	T	-0.702024	0.05715	T	0.0076061803385014	0.00088	T	0.557644	0.26722	T	0.01818197	0.00339	0.03529217	0.02752	0.01818197	0.00339	0.03529217	0.02752	-4.277	0.27853	T	.	.	0.129	0.36355	B	.;.;.;.	.;.;.;.	-0.013267	0.04192	1.018	0.78160636043347531	0.12181	0.01955	0.05937	N	AEFDBCI	0.037661	0.05213	N	-1.33742483042633	0.03257	0.145183	-1.32299064678116	0.04135	0.1943758	0.999999570129134	0.74766	0.65757	0.49021	0	0.615948	0.52940	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	3.14	0.903	0.18428	-0.248000	0.08872	0.287000	0.16831	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.195000	0.21750	0.6981:0.0:0.3019:0.0	4.669	0.12066	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1025.98	77	chr17	82316217	.	G	A	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=782;ExcessHet=0.0000;FS=3.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.706;SOR=0.368	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1040,0,752	20	0	1	0
chr18	346546	346546	G	A	exonic	COLEC12	.	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.C1076T:p.T359M,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.992	D	0.549	P	0.000	D	0.999	D	0.805	L	-1.18	T	-0.258	T	0.357	T	0.539	2.500	14.32	4.98	1.467	5.357	17.022	0.435	0.0648651348792	.	0.000199681	0.0004	9.61e-05	0.0003	0.0002	0	0.0004	0.0011	0.0013	0.000414	64	154602	rs568456291	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0013	0.0012	2.987e-05	0.0007	0.0005	0.0001	0	0.0014	0.0003	0.0006	0.0015	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	2.406e-05	0	0.0005	0.0006	0	0	0.0068	0.0005	0.0028	0.0017	0.003	0.68238	D	0.002	0.79402	D	0.992	0.64738	D	0.549	0.49194	P	0.000004	0.62929	D	0.141045	0.998568	0.45092	D	1.87	0.49600	L	-1.18	0.78314	T	-2.14	0.48523	N	0.203	0.22486	-0.2578	0.76147	T	0.357	0.71959	T	10	0.040530205	0.02629	T	0.064865	0.69406	D	0.435	0.74022	.	.	0.319322697148	0.31537	0.574329929693636	0.57361	0.271808930421	0.29692	0.484564900398	0.36686	T	0.054285	0.29681	T	-0.217492	0.18337	T	-0.115267	0.62189	T	0.0870696657288214	0.10867	T	0.856214	0.54490	D	0.20782071	0.42999	0.29562342	0.55594	0.20782071	0.42999	0.29562342	0.55593	-5.043	0.37304	T	.	.	0.083	0.09433	B	.	.	3.857184	0.55911	23.7	0.99428046719880814	0.64130	0.97680	0.76366	D	AEFDBI	0.803002	0.72827	D	0.244878095321043	0.53385	3.507693	0.317071258058213	0.56543	3.817715	0.999999996156176	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.86	4.98	0.65679	6.487000	0.73540	7.569000	0.60664	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1273:0.8727:0.0	17.022	0.86311	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2027.98	158	chr18	346546	.	G	A	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=858;ExcessHet=0.0000;FS=1.986;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.640;SOR=0.720	GT:AD:DP:GQ:PL	0/1:82,76:158:99:2042,0,1950	20	0	1	0
chr18	3188929	3188929	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon4:c.C590T:p.T197M	.	.	428	1058	35	1	0	37	0.0171853	.	.	230889	Hypertrophic_cardiomyopathy|not_specified	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.726	P	0.202	B	0.216	N	1.000	N	0	N	0.9	T	-1.084	T	0.043	T	0.091	-0.026	3.881	-1.56	-0.921	-1.746	4.442	0.021	.	0.0006	0.00379393	0.0025	0.0001	0.0005	0	0.0002	0.0011	0.0033	0.0130	0.0021669	335	154602	rs142735495	0.0014	0.0014	0.0010	0.0018	0.0131	0.0014	0.0013	0.0125	0.0122	6.011e-05	0.0006	0.0047	2.519e-05	0.0002	0.0069	0.0006	0.0020	0.0131	0.0010	0.0010	0.0007	0.0012	0.0136	0.0008	0.0008	0.0109	0.0100	9.728e-05	0	0.0013	0.0017	0	0	0.0102	0.0006	0.0029	0.0136	0.251	0.22138	T	0.107	0.38016	T	0.396	0.42471	B	0.055	0.36942	B	0.215705	0.03418	N	2.814250	1	0.08975	N	0	0.06538	N	0.89	0.50976	T	0.51	0.02898	N	0.078	0.10340	-1.0844	0.06517	T	0.043	0.18285	T	10	0.0035447478	0.00064	T	.	.	.	0.021	0.04004	.	.	0.35139820857	0.34749	0.1561886216387074	0.15539	0.143767449936	0.16234	0.231919467449	0.02114	T	0.015219	0.12811	T	-0.648357	0.00074	T	-0.693066	0.06213	T	0.0103052720743745	0.00140	T	0.444256	0.21082	T	0.01401323	0.00077	0.03353223	0.02263	0.013964177	0.00075	0.032004338	0.01871	-8.61	0.65313	D	.	.	0.252	0.52401	B	.;.;.	.;.;.	-0.279013	0.02711	0.355	0.67436098881155082	0.08354	0.00836	0.03355	N	AEFGBI	0.050213	0.08755	N	-1.69927224167309	0.00845	0.03652483	-1.8031923915074	0.00749	0.03338637	0.971880573309902	0.29324	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	2.23	-1.56	0.08080	-1.165000	0.03242	-0.665000	0.07962	-3.406000	0.00088	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3322:0.1804:0.4874:0.0	4.442	0.11002	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	7207.11	245	chr18	3188929	.	G	A	7207.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=1691;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.302;SOR=0.760	GT:AD:DP:GQ:PL	0/1:116,129:245:99:3254,0,2696	19	0	2	0
chr18	10759509	10759509	C	T	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.G3655A:p.V1219M	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	422	1095	4	1	0	6	0.00273224	.	.	262271	Arthrogryposis,_distal,_with_impaired_proprioception_and_touch|not_provided|not_specified|autosomal_recessive_PIEZO2_associated_disease	MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MedGen:C3661900|MedGen:CN169374|MedGen:CN238811	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.012	B	0.02	B	0.000	D	1.000	D	1.545	L	-0.65	T	-0.797	T	0.147	T	0.27	1.805	12.00	4.69	1.367	3.600	10.576	0.091	.	0.0053	0.00459265	0.0018	0.0166	0	0	0	0.0005	0	0	0.0006015	93	154602	rs73946020	0.0010	0.0009	0.0011	0.0009	0.0187	0.0009	0.0009	0.0175	0.0170	0.0187	0.0022	3.971e-05	0	0	0.0053	0.0005	0.0019	0.0004	0.0055	0.0056	0.0056	0.0055	0.0179	0.0052	0.0051	0.0168	0.0164	0.0179	0	0.0030	0	0	0	0.0102	0.0006	0.0033	0	0.065	0.36310	T	0.099	0.38891	T	0.012	0.16265	B	0.02	0.19048	B	0.000131	0.49741	D	0.137759	0.725591	0.29880	N	-0.145	0.04423	N	-0.65	0.72237	T	-0.11	0.08653	N	0.266	0.30118	-0.7975	0.55292	T	0.147	0.47219	T	10	0.0037408173	0.00070	T	.	.	.	0.091	0.26358	.	.	0.082315109003	0.07666	0.35116370611918396	0.35030	0.311192059044	0.33425	0.549987196922	0.45856	T	0.007708	0.07099	T	-0.407372	0.02069	T	-0.342343	0.40078	T	0.023957261224709	0.01139	T	0.879412	0.66280	D	0.05414239	0.10346	0.061991114	0.12058	0.054503046	0.10467	0.07239936	0.15613	-7.372	0.57201	T	0.08980590441756385	0.05528	0.104	0.27373	B	.;.;.;.	.;.;.;.	4.143125	0.62090	24.4	0.97214405401763726	0.32874	0.75652	0.37052	D	AEFDBI	0.184506	0.31183	N	-0.0621228694451515	0.39064	2.297635	0.090547890075035	0.44071	2.696044	0.999990393360851	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.56	4.69	0.58546	3.628000	0.54000	3.297000	0.37352	0.599000	0.40250	0.923000	0.32050	0.998000	0.33993	1.000000	0.97212	0.0:0.795:0.1334:0.0716	10.576	0.44414	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	870.98	71	chr18	10759509	.	C	T	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.426;DP=795;ExcessHet=0.0000;FS=2.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.198e+00;SOR=1.104	GT:AD:DP:GQ:PL	0/1:37,34:71:99:885,0,938	20	0	1	0
chr18	23909258	23909258	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon17:c.G2126A:p.R709Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	348001	Laryngo-onycho-cutaneous_syndrome|not_provided|Junctional_epidermolysis_bullosa_gravis_of_Herlitz	MONDO:MONDO:0009513,MedGen:C1328355,OMIM:245660,Orphanet:2407|MedGen:C3661900|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.953	D	.	.	1.000	N	2.485	M	0.59	T	-0.524	T	0.384	T	0.446	4.386	23.2	5.6	2.625	4.349	19.605	0.340	0.0464289579677	.	0.000399361	0.0003	0	0	0	0	0	0	0.0022	0.0002523	39	154602	rs563440658	0.0001	0.0001	6.674e-05	0.0002	0.0018	0.0001	9.705e-05	0.0016	0.0015	0	0	0	2.519e-05	0	0.0002	3.597e-06	0.0002	0.0018	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.006	0.65419	D	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	0.999994	0.20333	N	.	.	.	0.59	0.53943	T	-3.34	0.69950	D	0.472	0.54496	-0.5243	0.67756	T	0.384	0.73966	T	9	0.046185613	0.03778	T	0.046429	0.62452	D	0.340	0.66202	0.728	0.86198	0.635186127309	0.63219	0.5489935122728699	0.54825	0.603108607063	0.55296	0.479193896055	0.35945	T	0.057494	0.30581	T	-0.336329	0.05646	T	-0.263154	0.48508	T	0.382135736717778	0.28265	T	0.944006	0.85028	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.46722	B	.;.;.;.;.	.;.;.;.;.	5.332575	0.89486	30	0.99947807795333632	0.99923	0.88283	0.48141	D	AEFGBI	0.569443	0.57422	D	0.625095736804934	0.74764	6.18875	0.551324384570346	0.71490	5.662669	0.999955006260487	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	4.504000	0.60135	8.665000	0.77987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.605	0.95572	487	0.76954	.;Laminin domain II;.;Laminin domain II;Laminin domain II	.	.	.	.	.	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	921.98	111	chr18	23909258	.	G	A	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.590;DP=799;ExcessHet=0.0000;FS=2.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=0.949;SOR=0.476	GT:AD:DP:GQ:PL	0/1:71,40:111:99:936,0,1794	20	0	1	0
chr18	31086611	31086611	C	T	exonic	DSC2	.	nonsynonymous SNV	DSC2:NM_004949:exon7:c.G907A:p.V303M	Arrhythmogenic right ventricular dysplasia 11, Autosomal recessive, Autosomal dominant;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Autosomal recessive, Autosomal dominant	.	0	1506	15	1	0	17	0.00561241	.	.	55367	not_provided|Cardiovascular_phenotype|not_specified|Arrhythmogenic_right_ventricular_dysplasia_11|Cardiomyopathy	MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0012506,MedGen:C1864850,OMIM:610476|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.99	D	0.796	P	.	.	0.861	N	2.145	M	0.62	T	-0.815	T	0.199	T	0.299	3.089	16.32	3.8	0.706	0.854	4.795	0.200	.	0.0002	0.00299521	0.0012	0	8.64e-05	0	0	0.0004	0	0.0073	0.0010931	169	154602	rs145560678	0.0006	0.0006	0.0004	0.0008	0.0065	0.0006	0.0006	0.0061	0.0059	0	8.944e-05	0	0.0002	0	0.0062	0.0003	0.0009	0.0065	0.0005	0.0005	0.0004	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	2.406e-05	0	0.0003	0	0	0	0.0136	0.0004	0.0005	0.0079	0.014	0.53172	D	0.035	0.52389	D	0.99	0.63424	D	0.796	0.58006	P	.	.	.	.	0.860661	0.28360	N	2.57	0.75187	M	0.62	0.53302	T	-2.53	0.54864	D	0.334	0.37509	-0.8147	0.54263	T	0.199	0.55485	T	9	0.011647344	0.00254	T	.	.	.	0.200	0.48430	.	.	0.582828786496	0.57955	0.4682476576227785	0.46743	0.272612617038	0.29765	0.442356407642	0.30899	T	0.107909	0.42050	T	-0.428186	0.01520	T	-0.38439	0.35209	T	0.0671591548802075	0.08247	T	0.886711	0.62748	D	0.25397187	0.48422	0.22816357	0.47849	0.15264723	0.34641	0.26064792	0.51830	-5.513	0.42110	T	0.6873178471594483	0.76456	0.143	0.31355	B	.;.;.	.;.;.	3.459069	0.48208	22.6	0.99877424224254485	0.95410	0.15360	0.18873	N	AEFGBI	0.098859	0.19911	N	0.178683130312862	0.50175	3.210198	0.0890087908569607	0.43994	2.689829	0.760416309876792	0.23501	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.61	3.8	0.42887	0.758000	0.26113	1.802000	0.28890	0.599000	0.40250	0.018000	0.19461	0.928000	0.28476	0.900000	0.43643	0.3051:0.5373:0.0:0.1576	4.795	0.12637	810	0.42761	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	0	0	1	0	0.07143	3001.68	78	chr18	31086611	.	C	T	3001.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.209;DP=873;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-1.320e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1156,0,681	18	0	3	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	0/1:30,26:56:99:205,0,494	1	0	20	0
chr18	48758133	48758133	G	A	exonic	CTIF	.	nonsynonymous SNV	CTIF:NM_014772:exon8:c.G799A:p.A267T	.	.	423	1096	3	0	0	3	0.00136674	.	.	2356722	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.001	B	0.001	B	0.472	N	1.000	N	0.345	N	1.01	T	-1.030	T	0.053	T	0.024	0.836	8.373	-5.39	-0.702	-1.284	7.579	0.019	0.00217561425395	.	0.000199681	0.0002	0	8.66e-05	0.0001	0	1.505e-05	0	0.0013	0.0001617	25	154602	rs202032754	9.851e-05	9.85e-05	6.67e-05	0.0001	0.0013	8.511e-05	7.981e-05	0.0011	0.0010	0.0004	2.236e-05	0	2.519e-05	0	0	1.079e-05	9.935e-05	0.0013	8.542e-05	8.531e-05	7.713e-05	9.408e-05	0.0006	4.957e-05	3.963e-05	0.0002	9.022e-05	0.0001	0	6.539e-05	0	0.0002	0	0	4.411e-05	0	0.0006	0.606	0.05534	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.04355	B	0.471985	0.04931	N	1.302590	1	0.08975	N	0.345	0.11182	N	1.01	0.41392	T	-0.14	0.09135	N	0.048	0.07398	-1.0304	0.20325	T	0.053	0.22307	T	10	0.005952388	0.00133	T	0.002176	0.04071	T	0.019	0.03383	.	.	0.143184338766	0.13958	0.1026260178412565	0.10192	0.147134658135	0.16599	0.259804725647	0.04867	T	0.010432	0.09418	T	-0.702499	0.00035	T	-0.811947	0.01621	T	0.00552830111252528	0.00060	T	.	.	.	0.02727301	0.01897	0.04360004	0.05459	0.02727301	0.01897	0.04360004	0.05459	-3.683	0.19067	T	.	.	0.059	0.00793	B	.;.	.;.	0.027812	0.04477	1.192	0.87831997139109375	0.17514	0.01575	0.05137	N	AEFBI	0.037647	0.05210	N	-1.23987765332699	0.04434	0.2001204	-1.20799756738018	0.05780	0.2764013	0.999987662012605	0.51787	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.19	-5.39	0.02457	-0.708000	0.05138	-0.630000	0.08130	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.267000	0.23694	0.6209:0.0:0.2693:0.1098	7.579	0.27120	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	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	2116.98	197	chr18	48758133	.	G	A	2116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=927;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-3.900e-02;SOR=0.686	GT:AD:DP:GQ:PL	0/1:108,89:197:99:2131,0,2442	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|1:54,15:69:30:0|1:65824683_C_G:30,0,1210:65824683	0	0	20	1
chr18	70020730	70020730	C	A	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon44:c.G3302T:p.C1101F	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	.	9	1472	39	2	0	43	0.0143957	.	.	135637	not_provided|RTTN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.989	D	0.689	P	0.028	N	0.545	D	1.79	L	0.66	T	-0.619	T	0.136	T	0.585	2.332	13.75	6.07	2.890	1.913	10.571	0.171	.	0.0061	0.00419329	0.0071	0.0015	0.0046	0	0.0008	0.0085	0.0033	0.0128	0.0068563	1060	154602	rs145976466	0.0079	0.0079	0.0078	0.0081	0.0206	0.0078	0.0078	0.0176	0.0165	0.0017	0.0047	0.0046	5.039e-05	0.0019	0.0206	0.0085	0.0067	0.0129	0.0054	0.0054	0.0053	0.0054	0.0084	0.0051	0.0050	0.0078	0.0076	0.0012	0.0197	0.0077	0.0037	0	0.0009	0.0034	0.0084	0.0043	0.0070	0.03	0.45393	D	0.032	0.53426	D	0.989	0.62824	D	0.689	0.53736	P	0.027691	0.25717	N	0.454682	0.544657	0.32083	D	1.95	0.52479	M	0.66	0.52416	T	-1.77	0.41809	N	0.369	0.41063	-0.6193	0.64018	T	0.136	0.45068	T	10	0.005443305	0.00120	T	.	.	.	0.171	0.43483	.	.	0.510230903827	0.50662	0.30996790440081773	0.30909	0.167520044428	0.18895	0.308870136738	0.11737	T	0.139244	0.47317	T	-0.365889	0.03808	T	-0.287319	0.46051	T	0.00781058271793566	0.00092	T	0.835416	0.52437	T	0.12677795	0.29686	0.09754753	0.23223	0.10329817	0.24415	0.11255301	0.27158	-2.083	0.03512	T	0.5437217846477904	0.61307	0.209	0.43640	B	.;.;.	.;.;.	2.770700	0.36367	20.2	0.98568032777208736	0.43063	0.58772	0.30732	D	AEFGBI	0.235831	0.35837	N	0.419131343728332	0.62475	4.463965	0.404103181547507	0.61821	4.387615	0.999810614893077	0.43459	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	1.717000	0.37612	4.040000	0.41416	0.599000	0.40250	0.174000	0.23986	0.999000	0.35428	0.555000	0.30293	0.0:0.8541:0.0:0.1459	10.571	0.44388	981	0.03995	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2599.11	105	chr18	70020730	.	C	A	2599.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.966;DP=877;ExcessHet=0.1072;FS=1.100;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.643;SOR=0.604	GT:AD:DP:GQ:PL	0/1:48,57:105:99:1540,0,1235	19	0	2	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,10,25,0:35:99:.:.:3227,1366,1337,546,0,642,2344,1417,497,2373	1	10	5	0
chr19	1068442	1068442	C	T	exonic	ARHGAP45	.	nonsynonymous SNV	ARHGAP45:NM_001258328:exon2:c.C167T:p.A56V	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.802	P	0.2	B	0.838	N	1.000	N	1.995	M	2.02	T	-1.033	T	0.047	T	0.172	2.303	13.66	0.572	0.363	0.096	8.401	0.043	0.0755395283855	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs770630672	1.545e-05	1.779e-05	1.529e-05	1.561e-05	1.738e-05	1.011e-05	8.64e-06	1.112e-05	8.96e-06	0	0	0	0	0	0	1.738e-05	5.111e-05	0	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	0.004	0.65419	D	0.12	0.60972	T	0.09	0.25173	B	0.01	0.14941	B	0.837542	0.09059	N	0.912957	1	0.19486	N	1.555	0.39373	L	1.98	0.48142	T	-0.67	0.22944	N	0.168	0.18239	-1.0328	0.19554	T	0.047	0.20195	T	10	0.07466942	0.11443	T	0.07554	0.72313	D	0.043	0.11576	0.161	0.06507	0.146414634003	0.14194	0.23841772686877274	0.23755	0.718610679393	0.62102	0.516645789146	0.41155	T	0.031027	0.21850	T	-0.210656	0.19287	T	-0.540369	0.18259	T	0.200666770339012	0.20452	T	0.725627	0.39623	T	0.08103425	0.18598	0.061775234	0.11982	0.08103425	0.18598	0.061775234	0.11982	-4.318	0.29147	T	.	.	0.075	0.09094	B	.;.;.;.;.	.;.;.;.;.	1.097848	0.14821	11.35	0.99373130028019341	0.61541	0.11051	0.16374	N	AEFDGBCI	0.086497	0.17538	N	-0.677550641802455	0.16663	0.8509206	-0.820865294708477	0.13990	0.7287136	0.999998871830486	0.74766	0.646311	0.45356	0	0.52208	0.09955	0	0.645312	0.48771	0	0.505526	0.08623	0	.	.	4.01	0.572	0.16542	-0.084000	0.11233	0.458000	0.18589	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7266:0.0:0.2734	8.401	0.31749	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	909.98	76	chr19	1068442	.	C	T	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.771;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.75;SOR=0.701	GT:AD:DP:GQ:PL	0/1:39,37:76:99:924,0,886	20	0	1	0
chr19	2933605	2933607	GAA	-	exonic	ZNF77	.	nonframeshift deletion	ZNF77:NM_021217:exon4:c.1520_1522del:p.L507del,	.	.	410	1107	4	1	0	6	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.00199681	0.0020	0.0008	0.0010	0	0.0020	0.0021	0	0.0041	0.0001811	28	154602	rs565530193	0.0029	0.0029	0.0028	0.0030	0.0066	0.0028	0.0028	0.0049	0.0046	0.0003	0.0010	7.654e-05	0	0.0015	0.0066	0.0031	0.0026	0.0052	0.0017	0.0017	0.0018	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0004	0	0.0024	0	0	0.0024	0.0034	0.0024	0.0028	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2619.94	138	chr19	2933604	.	CGAA	C	2619.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.137e+00;DP=2134;ExcessHet=0.0000;FS=2.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.99;ReadPosRankSum=-2.150e-01;SOR=0.911	GT:AD:DP:GQ:PL	0/1:70,68:138:99:2634,0,2699	20	0	1	0
chr19	4352947	4352947	G	T	exonic	MPND	.	nonsynonymous SNV	MPND:NM_001159846:exon4:c.G582T:p.E194D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.704	P	0.27	B	0.037	N	0.956	N	1.59	L	.	.	-1.065	T	0.057	T	0.104	1.734	11.76	-1.39	-0.148	0.651	2.651	0.038	0.0138325809972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.26519	T	0.142	0.34959	T	0.704	0.41950	P	0.197	0.39872	B	0.037255	0.24424	N	0.416661	0.974732	0.26329	N	1.98	0.53716	M	.	.	.	-1.44	0.35792	N	0.293	0.42050	-1.0645	0.10666	T	0.057	0.23828	T	9	0.097961634	0.17678	T	0.013833	0.33526	T	0.038	0.09825	0.156	0.05964	0.274366138417	0.27033	0.2901388817088245	0.28926	0.380299228091	0.39395	0.76660567522	0.76915	T	0.006519	0.05951	T	-0.197913	0.21106	T	-0.522065	0.20086	T	0.461189955472946	0.31208	T	0.673733	0.28342	T	0.071845874	0.15937	0.06533916	0.13229	0.071845874	0.15936	0.06533916	0.13229	-5.18	0.38738	T	.	.	0.094	0.20586	B	.;.;.;.	.;.;.;.	1.486606	0.19127	14.11	0.98958318334679385	0.49285	0.40216	0.26387	N	AEFGBHCI	0.114654	0.22574	N	-0.538384469279072	0.20850	1.102198	-0.537730250091255	0.21132	1.141754	0.00291933165405422	0.09795	0.696267	0.57585	0	0.637152	0.57089	0	0.779548	0.98927	0	0.683535	0.66460	0	.	.	3.55	-1.39	0.08526	0.791000	0.26577	0.718000	0.20989	0.487000	0.22268	1.000000	0.71638	0.997000	0.33255	0.929000	0.46594	0.4338:0.0:0.351:0.2151	2.651	0.04694	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	833.98	66	chr19	4352947	.	G	T	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.470e-01;DP=861;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=1.62;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,36:66:99:0|1:4352947_G_T:848,0,733:4352947	20	0	1	0
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,322,0:322:99:1|1:4511635_C_G:11149,966,0,11149,966,11149:4511635	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,98,0:100:99:1|1:4511635_C_G:4265,211,0,4271,295,4355:4511635	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,84:105:99:0|1:4511635_C_G:3464,3527,4409,0,882,629:4511635	0	0	0	8
chr19	4859619	4859619	G	T	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon4:c.C319A:p.L107I	.	.	416	1079	26	1	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.005	U	0.977	N	2.055	M	3.04	T	-1.098	T	0.049	T	0.178	3.270	16.98	3.11	0.902	1.194	4.139	0.120	0.0111998595391	0.0035	0.00199681	0.0040	0.0009	0.0032	0	0	0.0056	0.0033	0.0041	0.0042108	651	154602	rs11552104	0.0047	0.0047	0.0047	0.0047	0.0146	0.0046	0.0046	0.0121	0.0111	0.0008	0.0027	0.0077	0	0.0004	0.0146	0.0052	0.0048	0.0039	0.0034	0.0034	0.0037	0.0030	0.0054	0.0032	0.0031	0.0050	0.0048	0.0007	0.0110	0.0033	0.0089	0.0002	0	0.0170	0.0054	0.0038	0.0031	0.0	0.91255	D	0.053	0.48080	T	1.0	0.90584	D	0.999	0.92359	D	0.005490	0.32753	U	0.204155	0.977048	0.25337	N	2.62	0.76659	M	3.04	0.08810	T	-1.81	0.42575	N	0.402	0.44283	-1.0979	0.04354	T	0.049	0.20868	T	10	0.011464447	0.00250	T	0.011	0.28580	T	0.120	0.33359	.	.	0.115124310173	0.11017	0.3354490691648278	0.33457	0.443632335628	0.44285	0.417411506176	0.27481	T	0.115009	0.43327	T	-0.515503	0.00467	T	-0.510926	0.21221	T	0.030477355265993	0.02063	T	0.872813	0.58047	D	0.39618346	0.60467	0.27863643	0.53826	0.39618346	0.60468	0.27863643	0.53825	-9.373	0.70097	D	.	.	0.121	0.35098	B	.;.;.;.;.	.;.;.;.;.	3.248576	0.44377	21.9	0.9952486459899893	0.69469	0.89251	0.49603	D	AEFDBI	0.220090	0.34489	N	0.340190083051879	0.58222	3.993413	0.245947758249608	0.52420	3.416867	0.656106833645402	0.22219	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.2	3.11	0.34883	1.023000	0.29668	2.486000	0.32962	0.569000	0.28856	0.740000	0.29026	0.997000	0.33255	0.875000	0.41745	0.0917:0.1605:0.5824:0.1654	4.139	0.09654	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2122.11	94	chr19	4859619	.	G	T	2122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=851;ExcessHet=0.1072;FS=1.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.791;SOR=0.863	GT:AD:DP:GQ:PL	0/1:58,36:94:99:781,0,1325	19	0	2	0
chr19	4941590	4941590	C	T	exonic	UHRF1	.	nonsynonymous SNV	UHRF1:NM_013282:exon5:c.C887T:p.P296L	.	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.987	D	0.631	P	0.001	N	0.987	D	2.565	M	.	.	-0.069	T	0.350	T	0.555	3.446	17.67	4.58	2.366	3.132	17.556	0.326	.	.	.	9.054e-05	0	0	0.0011	0	0	0	6.667e-05	6.47e-05	10	154602	rs763324730	4.653e-05	4.652e-05	4.085e-05	5.227e-05	0.0004	3.729e-05	3.412e-05	0.0003	0.0002	2.988e-05	2.238e-05	0	0.0004	0	0	4.138e-05	0	4.641e-05	4.597e-05	4.594e-05	5.14e-05	4.03e-05	0.0004	2.108e-05	1.526e-05	6.84e-05	2.862e-05	0	0	0	0	0.0004	0	0	5.88e-05	0.0005	0	.	.	.	0.038	0.58089	D	0.984	0.60733	D	0.631	0.51788	P	0.001221	0.39820	N	0.252459	.	.	.	2.66	0.77858	M	.	.	.	.	.	.	0.396	0.45709	-0.0690	0.80802	T	0.350	0.71431	T	8	0.12929004	0.24599	T	.	.	.	.	.	.	.	0.388812400583	0.38497	0.8060351035236138	0.80558	.	.	0.435775309801	0.30000	T	0.31626	0.68781	T	-0.117946	0.33460	T	0.0122501	0.71127	D	0.485030144453049	0.32081	T	0.814619	0.46840	T	0.24088494	0.46997	0.17656052	0.40199	0.24088494	0.46997	0.17656052	0.40199	-8.785	0.66303	D	.	.	0.158	0.43612	B	.;.;.;.;.;.	.;.;.;.;.;.	3.661180	0.52017	23.2	0.99801362231328183	0.88639	0.92511	0.55883	D	AEFDGBHCI	.	.	.	0.300605368190385	0.56181	3.782372	0.187384674226737	0.49154	3.122138	0.9999999975548	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.213933	0.04560	1	0.375513	0.06772	0	0.970898	0.73149	4.58	4.58	0.56077	4.684000	0.61374	4.812000	0.45049	0.596000	0.33519	0.994000	0.38300	0.993000	0.31925	0.021000	0.11733	0.0:1.0:0.0:0.0	17.556	0.87787	958	0.09170	UHRF1, tandem tudor domain;UHRF1, tandem tudor domain;UHRF1, tandem tudor domain;UHRF1, tandem tudor domain;UHRF1, tandem tudor domain;UHRF1, tandem tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2413.98	232	chr19	4941590	.	C	T	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=962;ExcessHet=0.0000;FS=4.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=-3.850e-01;SOR=0.999	GT:AD:DP:GQ:PL	0/1:132,100:232:99:2428,0,3101	20	0	1	0
chr19	6432101	6432101	G	A	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon2:c.C311T:p.A104V,	.	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.994	D	0.846	P	0.000	D	1.000	D	1.725	L	-1.37	T	0.052	D	0.480	T	0.653	4.533	24.4	4.62	2.396	7.196	16.375	0.681	.	0.0067	0.00419329	0.0069	0.0017	0.0027	0.0001	0.0065	0.0104	0.0045	0.0025	0.006921	1070	154602	rs150991235	0.0090	0.0090	0.0092	0.0088	0.0105	0.0088	0.0088	0.0104	0.0103	0.0012	0.0032	0.0033	0	0.0063	0.0021	0.0105	0.0080	0.0035	0.0064	0.0064	0.0069	0.0058	0.0110	0.0060	0.0059	0.0103	0.0101	0.0014	0	0.0048	0.0020	0.0002	0.0059	0	0.0110	0.0047	0.0025	0.08	0.33585	T	0.035	0.52389	D	0.994	0.66517	D	0.846	0.60472	P	0.000019	0.62929	D	0.066049	1	0.81001	D	1.745	0.45235	L	-1.37	0.80214	T	-3.15	0.64132	D	0.684	0.69037	0.052	0.83272	D	0.480	0.80124	T	10	0.016352922	0.00344	T	.	.	.	0.681	0.88300	.	.	0.631438196984	0.62842	0.4244616758032431	0.42363	0.221065688482	0.24653	0.522127866745	0.41926	T	0.20593	0.56513	T	-0.178185	0.24006	T	-0.018339	0.69138	D	0.00936161113568234	0.00120	T	0.982702	0.94130	D	0.3212692	0.54747	0.29901394	0.55934	0.3212692	0.54746	0.29901394	0.55934	-8.083	0.61635	D	.	.	0.214	0.44358	B	.	.	4.307601	0.65821	24.9	0.99927452651785742	0.99163	0.97203	0.73298	D	AEFBI	0.877814	0.80268	D	0.555245156009932	0.70402	5.496262	0.515638785235919	0.69041	5.30412	0.999995669123339	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	4.62	4.62	0.56946	7.932000	0.87091	4.393000	0.43220	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	16.375	0.83215	818	0.41518	.	.	.	.	.	rs150991235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2399.11	111	chr19	6432101	.	G	A	2399.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=897;ExcessHet=0.1072;FS=1.047;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.366;SOR=0.611	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1287,0,1197	19	0	2	0
chr19	8138297	8138297	G	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon10:c.C1045T:p.R349W	.	.	.	.	.	.	.	.	.	.	.	1420453	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.431	B	0.109	B	0.000	U	1.000	N	0.345	N	-3.08	D	-0.415	T	0.475	T	0.274	0.811	8.260	0.761	0.034	0.934	7.419	0.276	0.0359836484223	.	.	0.0001	0	0	0.0015	0	1.573e-05	0	0	0.00011	17	154602	rs200666277	8.9e-05	9.235e-05	9.128e-05	8.669e-05	0.0025	7.628e-05	7.173e-05	0.0021	0.0019	0	9.006e-05	0	0.0025	1.878e-05	0	1.979e-05	3.317e-05	2.321e-05	9.853e-05	9.85e-05	6.422e-05	0.0001	0.0015	6.005e-05	4.878e-05	0.0008	0.0006	2.412e-05	0	6.54e-05	0	0.0015	0	0	5.879e-05	0	0.0002	0.017	0.51248	D	0.008	0.67890	D	0.431	0.35606	B	0.109	0.31370	B	0.000007	0.62929	U	0.063679	1.000	0.20292	N	0	0.06538	N	-3.08	0.92560	D	-0.45	0.14782	N	0.289	0.32701	-0.4148	0.71557	T	0.475	0.79862	T	10	0.029268712	0.01054	T	0.035984	0.56702	D	0.276	0.59253	0.524	0.62818	0.422883881359	0.41909	0.6644500993208319	0.66382	0.344482459952	0.36376	0.331635594368	0.15182	T	0.040908	0.25682	T	-0.302038	0.08469	T	-0.252185	0.49601	T	0.0517701996524766	0.05808	T	0.405859	0.10416	T	0.07230487	0.16074	0.0466057	0.06534	0.07230487	0.16073	0.0466057	0.06533	-6.658	0.51493	T	.	.	0.096	0.15385	B	.;.;.	.;.;.	1.575236	0.20165	14.62	0.96284973494175286	0.29295	0.14606	0.18491	N	AEFDBI	0.350798	0.44412	N	-1.12958535082374	0.06122	0.280991	-1.18355583576835	0.06184	0.2968714	2.15880230871157E-4	0.05997	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.21	0.761	0.17594	0.186000	0.16787	.	.	-1.894000	0.00530	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.5885:0.3203:0.0912	7.419	0.26233	934	0.15400	.;.;.	.	.	.	.	.	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	88	chr19	8138297	.	G	A	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=792;ExcessHet=0.0000;FS=1.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=0.448;SOR=0.860	GT:AD:DP:GQ:PL	0/1:37,51:88:99:1383,0,803	20	0	1	0
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S,	.	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.992	D	0.979	D	.	.	.	.	.	.	4.69	T	-1.012	T	0.008	T	0.059	-1.220	0.063	0.949	-0.089	-0.973	3.025	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1562	122.45	92	chr19	8888076	.	G	A	122.45	.	AC=5;AF=0.156;AN=32;BaseQRankSum=3.74;DP=1860;ExcessHet=1.1607;FS=1.103;InbreedingCoeff=-0.2118;MLEAC=5;MLEAF=0.156;MQ=59.49;MQRankSum=-7.474e+00;QD=0.28;ReadPosRankSum=-6.410e-01;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,7:92:38:.:.:38,0,3527	11	0	5	5
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T,	.	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.831	P	0.824	P	.	.	.	.	.	.	4.62	T	-1.022	T	0.007	T	0.058	0.123	4.662	-0.566	-0.690	-0.913	4.301	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	240.03	93	chr19	8888087	.	A	G	240.03	.	AC=3;AF=0.100;AN=30;BaseQRankSum=3.33;DP=1799;ExcessHet=0.3300;FS=3.998;InbreedingCoeff=-0.1687;MLEAC=4;MLEAF=0.133;MQ=59.66;MQRankSum=-4.196e+00;QD=0.85;ReadPosRankSum=-3.330e-01;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,8:93:73:0|1:8888087_A_G:73,0,3545:8888087	12	0	3	6
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	0/1:238,72,38,0:358:99:.:.:3120,0,9775,1365,8401,11232,3887,10104,11469,14110	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|1:247,67,38:352:99:0|1:8888826_T_*:2073,0,10168,1221,8779,11478:8888826	1	0	19	0
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S,	.	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-2.085	N	4.52	T	-0.923	T	0.002	T	0.054	-0.265	2.727	0.419	-0.350	0.140	4.268	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	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	0.07895	430.29	122	chr19	8906323	.	G	A	430.29	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.900e-01;DP=2031;ExcessHet=0.3300;FS=7.018;InbreedingCoeff=-0.1136;MLEAC=3;MLEAF=0.079;MQ=58.84;MQRankSum=-1.098e+01;QD=1.07;ReadPosRankSum=-7.140e-01;SOR=1.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,9:122:38:0|1:8906306_G_A:38,0,4718:8906306	16	0	3	2
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S,	.	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.905	N	4.5	T	-0.830	T	0.002	T	0.097	-1.387	0.024	-2.96	-3.727	-5.812	7.234	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	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	0.08333	422.15	125	chr19	8906325	.	A	C	422.15	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-6.810e-01;DP=2100;ExcessHet=0.3300;FS=5.370;InbreedingCoeff=-0.1238;MLEAC=3;MLEAF=0.083;MQ=58.89;MQRankSum=-1.169e+01;QD=1.04;ReadPosRankSum=-7.480e-01;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,9:125:29:0|1:8906306_G_A:29,0,4844:8906306	15	0	3	3
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R,	.	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.2	N	1.56	T	-1.012	T	0.021	T	0.117	-0.969	0.308	-2.96	-2.363	-1.255	4.013	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	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	0.1053	676.79	128	chr19	8906329	.	A	G	676.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.217e+00;DP=2113;ExcessHet=0.6776;FS=9.405;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=58.89;MQRankSum=-1.215e+01;QD=1.15;ReadPosRankSum=-1.056e+00;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,10:128:65:0|1:8906306_G_A:65,0,4925:8906306	15	0	4	2
chr19	8957901	8957901	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C18869T:p.T6290I,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.829	P	.	.	.	.	1.445	L	1.63	T	-0.857	T	0.106	T	0.085	0.379	6.058	2.35	1.619	-0.148	8.249	0.047	0.00193307550577	8e-05	0.000998403	0.0005	0	8.639e-05	0	0	0.0003	0	0.0025	0.0004851	75	154602	rs201749237	0.0004	0.0004	0.0003	0.0005	0.0027	0.0004	0.0004	0.0024	0.0023	2.988e-05	0.0003	3.827e-05	0	0.0003	0.0014	0.0003	0.0004	0.0027	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0007	0.0006	7.22e-05	0	0.0011	0	0	9.422e-05	0	0.0004	0.0005	0.0015	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.63	0.28002	T	-1.36	0.33798	N	0.056	0.02759	-0.8567	0.51498	T	0.106	0.38661	T	8	0.00640586	0.00145	T	0.001933	0.03430	T	0.047	0.12962	.	.	0.143124449307	0.13826	0.06538962263867727	0.06477	.	.	0.245085567236	0.03268	T	.	.	.	-0.618526	0.00112	T	-0.665549	0.07896	T	0.0215964933868581	0.00864	T	0.243776	0.03556	T	.	.	.	.	.	.	.	.	-5.73	0.43959	T	.	.	0.181	0.39425	B	.	.	0.359460	0.07324	3.935	0.35698789819713506	0.02255	0.04230	0.09750	N	AEFBI	0.016628	0.00386	N	-0.317574646473051	0.28480	1.571246	-0.552782191329191	0.20732	1.118325	0.00622124831571073	0.11161	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.35	2.35	0.28166	0.523000	0.22632	.	.	0.373000	0.20310	0.001000	0.13787	0.000000	0.08366	0.022000	0.11911	0.0:0.0:1.0:0.0	8.249	0.30866	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2241.98	178	chr19	8957901	.	G	A	2241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.473;DP=2311;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=0.496;SOR=0.705	GT:AD:DP:GQ:PL	0/1:92,86:178:99:2256,0,2446	20	0	1	0
chr19	9466956	9466956	G	A	exonic	ZNF560	.	nonsynonymous SNV	ZNF560:NM_001351678:exon10:c.C1673T:p.A558V	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.996	D	0.953	D	.	.	1.000	N	1.32	L	2.56	T	-1.081	T	0.048	T	0.062	2.663	14.86	-4.24	-1.245	-0.610	5.381	0.072	0.000949573740408	.	.	8.25e-06	0	8.654e-05	0	0	0	0	0	6.5e-06	1	154602	rs770847589	2.052e-06	2.052e-06	1.361e-06	2.75e-06	4.472e-05	5.5e-07	1.5e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.011	0.64786	D	0.996	0.68779	D	0.953	0.69275	D	.	.	.	.	1	0.08975	N	1.11	0.28643	L	2.56	0.13673	T	-3.34	0.66325	D	0.111	0.09772	-1.0814	0.07079	T	0.048	0.20553	T	9	0.17648757	0.32635	T	9.5E-4	0.00957	T	0.072	0.21020	0.569	0.69167	0.188950314367	0.18478	0.013413483324502887	0.01299	0.29405852682	0.31822	0.263149857521	0.05271	T	0.192485	0.54765	T	-0.477924	0.00761	T	-0.748434	0.03547	T	0.880465447902679	0.53048	D	0.628437	0.24364	T	0.18762764	0.40225	0.19821458	0.43642	0.18762764	0.40225	0.19821458	0.43641	-5.693	0.43632	T	.	.	0.301	0.53103	B	.	.	2.561841	0.33183	19.26	0.99336800571592421	0.60012	0.03416	0.08541	N	AEFBCI	0.039518	0.05751	N	-0.628143973572011	0.18103	0.9371441	-0.94782118849735	0.10974	0.5561936	1.80752062605366E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.12	-4.24	0.03519	-0.431000	0.07034	.	.	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.354000	0.25750	0.0:0.3848:0.3231:0.2922	5.381	0.15493	952	0.10565	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	2164.98	152	chr19	9466956	.	G	A	2164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=855;ExcessHet=0.0000;FS=2.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.37;SOR=0.811	GT:AD:DP:GQ:PL	0/1:74,78:152:99:2179,0,1928	20	0	1	0
chr19	9758008	9758008	C	G	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.G682C:p.V228L	.	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	.	.	1.000	N	-1.14	N	2.46	T	-0.980	T	0.007	T	0.05	1.911	12.35	-4.02	-1.295	-1.093	1.371	0.017	0.000684223319064	0.0009	0.00119808	0.0003	0.0033	8.661e-05	0	0	0.0001	0	0	0.0003363	52	154602	rs139394148	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0002	0	0	0	0.0029	7.194e-05	0.0006	2.319e-05	0.0011	0.0011	0.0011	0.0010	0.0036	0.0009	0.0009	0.0032	0.0030	0.0036	0	0.0001	0	0	0	0	0.0001	0.0010	0	0.24	0.17701	T	0.112	0.37037	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.275	0.00739	N	2.46	0.14907	T	-0.57	0.17210	N	0.03	0.00717	-0.9797	0.35071	T	0.007	0.02321	T	8	0.0042680204	0.00085	T	6.84E-4	0.00400	T	0.017	0.02790	0.398	0.42590	0.148003135375	0.14442	0.01252868058920087	0.01211	0.0113269033365	0.01058	0.240777403116	0.02861	T	0.002564	0.01954	T	-0.753927	0.00017	T	-0.855885	0.00888	T	0.0128012063783363	0.00218	T	0.714629	0.32694	T	0.05465445	0.10516	0.05546819	0.09736	0.05465445	0.10516	0.05546819	0.09736	-4.459	0.30348	T	.	.	0.129	0.27702	B	.	.	-0.269736	0.02752	0.369	0.86483364896799642	0.16566	0.00018	0.00208	N	AEFBHCI	0.049982	0.08690	N	-1.58284560719604	0.01352	0.05893196	-1.5915029531941	0.01707	0.07756527	0.00676574419427502	0.11302	0.615465	0.37627	0	0.588015	0.36545	0	0.463624	0.06942	0	0.655142	0.61905	0	.	.	2.01	-4.02	0.03764	-1.461000	0.02472	.	.	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.1567:0.2111:0.1553:0.4768	1.371	0.02079	906	0.23090	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	1100.98	107	chr19	9758008	.	C	G	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=831;ExcessHet=0.0000;FS=1.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-5.700e-01;SOR=0.878	GT:AD:DP:GQ:PL	0/1:63,44:107:99:1115,0,1570	20	0	1	0
chr19	9758284	9758284	G	T	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.C406A:p.Q136K	.	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	B	0.017	B	.	.	1.000	N	0.85	L	3.2	T	-0.934	T	0.010	T	0.04	0.671	7.592	-2.02	-0.469	-10.144	4.437	0.011	0.00097886745271	0.0009	0.00119808	0.0003	0.0033	8.651e-05	0	0	0.0001	0	0	0.0003363	52	154602	rs182871540	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0002	0	0	0	0.0029	7.194e-05	0.0006	2.319e-05	0.0010	0.0011	0.0011	0.0010	0.0035	0.0009	0.0008	0.0031	0.0029	0.0035	0	0.0001	0	0	0	0	0.0001	0.0010	0	0.454	0.08891	T	0.124	0.35455	T	0.023	0.18885	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0.565	0.15224	N	2.26	0.17596	T	-0.33	0.12472	N	0.092	0.07125	-0.9341	0.43530	T	0.010	0.03582	T	8	0.006107986	0.00137	T	9.79E-4	0.01026	T	0.011	0.01250	.	.	0.117506650769	0.11410	0.014851344574885825	0.01442	0.0148240308815	0.01408	0.304430782795	0.11065	T	0.001032	0.00564	T	-0.745748	0.00019	T	-0.844136	0.01038	T	0.0150262008645624	0.00323	T	0.29517	0.10821	T	0.041941877	0.06271	0.04298797	0.05245	0.041941877	0.06271	0.04298797	0.05244	-6.171	0.47687	T	.	.	0.626	0.69954	P	.;.;.	.;.;.	0.187358	0.05738	2.184	0.72009358512007882	0.09824	0.00006	0.00120	N	AEFDGBHCI	0.033337	0.03933	N	-1.43370730371528	0.02348	0.103581	-1.56290727170255	0.01888	0.08610339	0.00418278900172782	0.10449	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	1.18	-2.02	0.06981	-5.735000	0.00122	.	.	0.557000	0.28285	0.000000	0.06391	0.000000	0.08366	0.816000	0.38450	0.0:0.2443:0.5079:0.2478	4.437	0.10978	906	0.23090	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1436.98	95	chr19	9758284	.	G	T	1436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=813;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.777e+00;SOR=0.865	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1451,0,1100	20	0	1	0
chr19	10467273	10467273	G	T	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_006202:exon10:c.G1596T:p.E532D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.571	P	0.21	B	0.000	U	0.987	N	0.345	N	-0.01	T	-0.887	T	0.173	T	0.168	2.320	13.71	3.2	2.126	-0.081	10.166	0.118	0.0322613022593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.269	0.23707	T	0.189	0.38591	B	0.073	0.37304	B	0.000010	0.00162	U	28.402500	0.998344	0.24560	N	1.445	0.36358	L	-0.3	0.68030	T	0.22	0.04694	N	0.032	0.02179	-0.8867	0.49215	T	0.173	0.51500	T	10	0.12187785	0.23111	T	0.032261	0.54132	D	0.118	0.32913	0.238	0.16912	0.361733483669	0.35779	.	.	.	.	0.273583710194	0.06613	T	0.028129	0.20444	T	-0.150923	0.28168	T	-0.454567	0.27194	T	0.390442758798599	0.28581	T	0.784022	0.42156	T	0.050866306	0.09255	0.06335177	0.12537	0.050866306	0.09254	0.06335177	0.12537	-4.581	0.34216	T	.	.	0.127	0.27069	B	.;.;.;.;.	.;.;.;.;.	0.524622	0.08933	5.714	0.97961140386751311	0.37180	0.23959	0.22242	N	AEFBI	0.162658	0.28885	N	-0.745432212079319	0.14758	0.7378632	-0.785703008905122	0.14846	0.7778122	0.796328771269426	0.24106	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.2	3.2	0.35826	-0.379000	0.07494	-0.108000	0.11862	0.616000	0.49467	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	10.166	0.42057	707	0.57054	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	2979.98	210	chr19	10467273	.	G	T	2979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.142e+00;DP=910;ExcessHet=0.0000;FS=1.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=-7.320e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:94,116:210:99:2994,0,2401	20	0	1	0
chr19	11107514	11107514	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon4:c.G436A:p.G146R	Hypercholesterolemia, familial, Autosomal dominant;LDL cholesterol level QTL2, Autosomal dominant	YES	0	1516	6	0	0	6	0.00197498	0.9786	0.752	181243	Familial_hypercholesterolemia|not_specified|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.105	B	0.083	B	0.486	N	1.000	D	1.87	L	-2.63	D	-0.018	T	0.691	D	0.738	1.587	11.26	2.08	0.239	2.099	5.856	0.610	.	.	0.000199681	4.127e-05	0	0	0	0	6.005e-05	0.0011	0	5.17e-05	8	154602	rs72658858	4.401e-05	4.446e-05	4.516e-05	4.285e-05	0.0010	3.527e-05	3.209e-05	0.0005	0.0003	9.021e-05	4.498e-05	0	0	0	0.0010	3.974e-05	0.0001	2.322e-05	4.6e-05	4.593e-05	3.858e-05	5.376e-05	0.0002	2.11e-05	1.527e-05	1.973e-05	1.125e-05	4.816e-05	0	0	0	0.0002	0	0	5.883e-05	0	0	0.052	0.47745	T	0.075	0.51421	T	0.105	0.25993	B	0.083	0.29179	B	0.485832	0.12113	N	0.720818	0.999999	0.58761	D	3.35	0.91085	M	-2.66	0.94161	D	-3.53	0.75297	D	0.286	0.33578	-0.0177	0.81886	T	0.691	0.89349	D	10	0.41681018	0.56596	T	0.673868	0.97285	D	0.610	0.84719	0.65	0.78753	0.999348807368	0.99933	0.8057189756564742	0.80526	0.292576888637	0.31676	0.258556425571	0.04720	T	0.778032	0.94115	D	0.154552	0.69695	D	0.160074	0.80811	D	0.143893626904328	0.16605	T	0.791621	0.49484	T	0.28866148	0.51868	0.21906629	0.46632	0.27933842	0.50984	0.19327447	0.42886	-11.644	0.83074	D	.	.	0.221	0.56265	B	.;.;.;.;.;.	.;.;.;.;.;.	3.147750	0.42600	21.6	0.98493868856320632	0.42132	0.91320	0.53296	D	AEFDBHCI	0.309373	0.41570	N	-0.358972654143662	0.26943	1.474456	-0.316650258099997	0.27560	1.530176	0.997129638452054	0.35298	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.33	2.08	0.26079	1.096000	0.30587	.	.	0.658000	0.54486	0.734000	0.28964	0.993000	0.31925	0.079000	0.17189	0.2328:0.1439:0.6232:0.0	5.856	0.17970	517	0.74620	EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-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	1	0	0	0	0	0	0	0.02381	1630.98	127	chr19	11107514	.	G	A	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=827;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-1.590e-01;SOR=0.928	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1645,0,1484	20	0	1	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	2/2:0,4,115:119:99:4937,4813,5046,347,192,0	2	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,65,0:140:99:0|1:12430718_C_A:2441,0,2954,2667,3149,5816:12430718	5	4	10	0
chr19	12647487	12647487	C	T	exonic	MAN2B1	.	nonsynonymous SNV	MAN2B1:NM_000528:exon22:c.G2776A:p.D926N	Mannosidosis, alpha-, types I and II, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.988	D	0.784	P	0.002	N	0.889	D	3.23	M	-1.83	D	0.668	D	0.725	D	0.065	2.710	15.02	4.75	2.769	2.319	11.420	0.405	0.0197779896522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	1.159e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36509	T	0.115	0.36630	T	0.988	0.62325	D	0.784	0.57456	P	0.002260	0.36929	N	0.123762	0.889045	0.35912	D	3.165	0.88605	M	-1.83	0.84122	D	-3.02	0.62630	D	0.305	0.34444	0.668	0.92771	D	0.725	0.90565	D	10	0.52239066	0.62717	D	0.019778	0.42228	T	0.405	0.71791	0.696	0.83313	0.895487556599	0.89445	0.502381576471119	0.50160	0.40742714432	0.41602	0.415224611759	0.27179	T	0.586054	0.86518	D	-0.0780487	0.40032	T	-0.349888	0.39218	T	0.984304845333099	0.75659	D	0.836316	0.50742	T	0.21499713	0.43920	0.1508747	0.35565	0.21499713	0.43920	0.1508747	0.35564	-8.026	0.61336	D	0.32258661715773523	0.42073	0.152	0.42592	B	.;.	.;.	3.685064	0.52475	23.2	0.99828475396297278	0.91026	0.90586	0.51885	D	AEFDBCI	0.420960	0.48757	N	0.550118890506027	0.70088	5.450601	0.462596592786195	0.65530	4.835413	0.999999984878423	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.645665	0.59343	0	.	.	5.84	4.75	0.59954	1.304000	0.33087	.	.	0.599000	0.40250	0.822000	0.30018	0.993000	0.31925	0.030000	0.13115	0.1798:0.8202:0.0:0.0	11.420	0.49219	819	0.41190	Glycosyl hydrolase family 38, 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	1	0	0	0	0	0	0	0.02381	1755.98	147	chr19	12647487	.	C	T	1755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=852;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-2.547e+00;SOR=0.597	GT:AD:DP:GQ:PL	0/1:79,68:147:99:1770,0,1999	20	0	1	0
chr19	12973596	12973596	A	G	exonic	DAND5	.	nonsynonymous SNV	DAND5:NM_152654:exon2:c.A532G:p.M178V,	.	.	.	.	.	.	.	.	.	.	.	2350168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	0.101	N	1.000	N	-0.24	N	1.58	T	-1.036	T	0.025	T	0.035	-0.980	0.290	-5.89	-0.562	-1.073	1.793	0.028	0.00383392875107	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001488	23	154602	rs543804820	0.0001	0.0001	9.528e-05	0.0001	0.0017	0.0001	9.5e-05	0.0009	0.0007	0	0	0.0033	0	0	0.0017	3.507e-05	0.0002	0.0002	7.883e-05	7.874e-05	3.857e-05	0.0001	0.0002	4.496e-05	3.511e-05	4.88e-06	1.83e-06	0	0	0	0.0026	0	0	0	2.941e-05	0	0.0002	0.936	0.02217	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.101084	0.02548	N	2.173460	1	0.08975	N	0.545	0.13751	N	1.58	0.29085	T	-1.22	0.30964	N	0.035	0.01004	-1.0355	0.18700	T	0.025	0.10553	T	10	0.009526581	0.00215	T	0.003834	0.08961	T	0.028	0.06331	.	.	0.0716867268079	0.06686	0.592326385745459	0.59162	0.017427321851	0.01692	0.23682770133	0.02512	T	0.333485	0.70333	T	-0.614394	0.00119	T	-0.824119	0.01371	T	0.0129023257020241	0.00222	T	0.19948	0.02241	T	0.0375119	0.04824	0.043326776	0.05366	0.0375119	0.04824	0.043326776	0.05366	-1.626	0.02043	T	.	.	0.059	0.00767	B	.	.	-1.408595	0.00354	0.006	0.30584984702707724	0.01680	0.00132	0.00814	N	AEFDBI	0.023460	0.01311	N	-1.84416078551495	0.00446	0.0191753	-1.8415141970531	0.00635	0.02822623	0.192066127671565	0.18012	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.55	-5.89	0.02093	-1.043000	0.03646	.	.	-1.367000	0.01175	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4625:0.1159:0.2624:0.1591	1.793	0.02870	490	0.76723	DAN	.	.	.	.	.	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	1369.98	99	chr19	12973596	.	A	G	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.701;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.23;SOR=0.632	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1384,0,1194	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	2/4:0,0,10,0,17,0,0:27:99:.:.:1033,1055,1084,676,697,683,1055,1084,697,1084,394,409,0,409,369,1055,1084,697,1084,409,1084,1055,1084,697,1084,409,1084,1084	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	2/4:0,0,10,0,17,0,0:27:99:.:.:1033,1055,1084,676,697,683,1055,1084,697,1084,394,409,0,409,369,1055,1084,697,1084,409,1084,1055,1084,697,1084,409,1084,1084	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	2/4:0,0,10,0,17,0,0:27:99:.:.:1033,1055,1084,676,697,683,1055,1084,697,1084,394,409,0,409,369,1055,1084,697,1084,409,1084,1055,1084,697,1084,409,1084,1084	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	2/4:0,0,10,0,17,0,0:27:99:.:.:1033,1055,1084,676,697,683,1055,1084,697,1084,394,409,0,409,369,1055,1084,697,1084,409,1084,1055,1084,697,1084,409,1084,1084	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	2/4:0,0,10,0,17,0,0:27:99:.:.:1033,1055,1084,676,697,683,1055,1084,697,1084,394,409,0,409,369,1055,1084,697,1084,409,1084,1055,1084,697,1084,409,1084,1084	2	3	6	0
chr19	13919940	13919940	G	A	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon12:c.G1345A:p.V449M,	Mental retardation, autosomal recessive 3, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	580498	Intellectual_disability,_autosomal_recessive_3|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.683	P	0.179	B	0.739	N	1.000	N	0	N	1.54	T	-1.021	T	0.044	T	0.081	1.893	12.29	4.03	1.103	3.406	11.597	0.067	0.0111343445704	0.0005	0.000199681	0.0008	0.0001	8.985e-05	0	0.0010	0.0012	0	0.0001	0.0006856	106	154602	rs199644216	0.0005	0.0005	0.0005	0.0005	0.0017	0.0005	0.0005	0.0009	0.0007	2.993e-05	6.713e-05	0	0	0.0013	0.0017	0.0006	0.0005	6.961e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	4.815e-05	0	0	0	0	0.0008	0	0.0007	0.0019	0	0.104	0.29959	T	0.103	0.38305	T	0.343	0.35204	B	0.116	0.35808	B	0.738926	0.06416	N	1.131450	0.999896	0.19781	N	0	0.06538	N	1.54	0.30133	T	-0.08	0.08187	N	0.059	0.03841	-1.0213	0.23292	T	0.044	0.18948	T	10	0.009877533	0.00222	T	0.011134	0.28436	T	0.067	0.19503	.	.	0.305730143919	0.30178	0.1282765801001997	0.12752	0.304299532992	0.32738	0.408141553402	0.26199	T	0.019131	0.15298	T	-0.579987	0.00193	T	-0.656328	0.08516	T	0.0182691347164635	0.00546	T	0.485551	0.14815	T	0.027050778	0.01843	0.042404484	0.05041	0.027050778	0.01843	0.042404484	0.05041	-6.188	0.47858	T	.	.	0.084	0.09530	B	.;.	.;.	2.728632	0.35709	19.97	0.98650284856048787	0.44178	0.76028	0.37258	D	AEFBI	0.192978	0.32011	N	-0.300413655031599	0.29133	1.612904	-0.219264627227371	0.30844	1.740316	0.0133243625605947	0.12449	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.07	4.03	0.46115	3.129000	0.50194	3.897000	0.40328	0.658000	0.54486	0.633000	0.28025	0.774000	0.26724	0.966000	0.53164	0.09:0.0:0.91:0.0	11.597	0.50233	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	944.98	96	chr19	13919940	.	G	A	944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=824;ExcessHet=0.0000;FS=1.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-1.870e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/1:58,38:96:99:959,0,1434	20	0	1	0
chr19	15427423	15427423	C	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001330395:exon4:c.G1057A:p.V353M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.982	D	0.000	D	0.961	D	0.895	L	1.4	T	-0.853	T	0.143	T	0.41	4.073	20.9	4.82	1.481	4.494	13.763	0.118	0.0160111272954	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305559546	4.105e-06	4.104e-06	4.085e-06	4.126e-06	1.159e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.34621	T	0.003	0.76473	D	0.997	0.70673	D	0.945	0.68163	D	0.000092	0.51296	D	0.133325	0.960539	0.38186	D	.	.	.	1.4	0.33630	T	-0.94	0.27669	N	0.767	0.76481	-0.8533	0.51739	T	0.143	0.46532	T	10	0.27501917	0.45058	T	0.016011	0.37051	T	0.118	0.32913	.	.	0.174091166621	0.17034	0.7244018020996035	0.72384	1.32565770736	0.83561	0.76439666748	0.76584	T	0.052733	0.29245	T	-0.098899	0.36609	T	-0.379838	0.35741	T	0.684443175792694	0.39992	D	0.943406	0.78638	D	.	.	.	.	.	.	.	.	-13.545	0.93730	D	.	.	0.904	0.88652	P	.;.;.;.;.;.	.;.;.;.;.;.	4.959685	0.81993	27.7	0.99859537082978145	0.93820	0.86601	0.45915	D	AEFDGBCI	0.320437	0.42354	N	0.439953511530117	0.63636	4.601142	0.471303110063701	0.66096	4.907814	0.0276084713237111	0.13783	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.85	4.82	0.61641	4.511000	0.60181	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9255:0.0:0.0745	13.763	0.62465	654	0.62520	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2020.98	155	chr19	15427423	.	C	T	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=843;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.206;SOR=0.807	GT:AD:DP:GQ:PL	0/1:74,81:155:99:2035,0,1638	20	0	1	0
chr19	15438758	15438758	G	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.C2236A:p.H746N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	.	.	.	.	0.699	N	1.000	D	.	.	4.45	T	-0.786	T	0.007	T	0.102	0.106	4.569	2.19	1.074	3.445	10.514	0.034	0.00544577564158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698873	0.10111	N	0.839536	0.999985	0.54805	D	.	.	.	.	.	.	.	.	.	.	.	-0.7857	0.55979	T	0.007	0.02598	T	7	0.14508367	0.27526	T	0.005446	0.13984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729627	0.34527	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14706	B	.	.	1.602100	0.20483	14.77	0.71879011498556289	0.09779	0.55781	0.29950	D	AEFDBHCI	0.119512	0.23322	N	-0.0755552100559216	0.38466	2.25341	-0.0774116657816111	0.36326	2.112602	0.0670005376451906	0.15412	0.615465	0.37627	0	0.588066	0.40923	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.73	2.19	0.26890	4.123000	0.57668	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.684000	0.33659	0.0:0.0:0.4086:0.5914	10.514	0.44068	653	0.62661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	34.17	2	chr19	15438758	.	G	T	34.17	.	AC=2;AF=0.067;AN=30;DP=76;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3092;MLEAC=2;MLEAF=0.067;MQ=60.00;QD=17.08;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	14	1	0	6
chr19	15628776	15628776	C	T	exonic	CYP4F8	.	nonsynonymous SNV	CYP4F8:NM_007253:exon12:c.C1330T:p.R444C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.982	D	0.000	U	0.999	D	.	.	.	.	-0.044	T	0.360	T	0.294	2.869	15.56	3.32	1.681	3.838	12.152	0.491	.	.	.	7.48e-05	0.0002	8.654e-05	0	0	4.508e-05	0	0.0002	5.82e-05	9	154602	rs768693886	3.013e-05	3.147e-05	2.862e-05	3.166e-05	0.0003	2.284e-05	2.034e-05	0.0001	0.0001	2.996e-05	0.0001	3.849e-05	0	0	0.0003	1.35e-05	1.659e-05	0.0002	7.236e-05	7.225e-05	0.0001	4.041e-05	0.0002	3.976e-05	3.131e-05	9.576e-05	6.971e-05	0.0002	0	6.555e-05	0	0	0	0	1.471e-05	0	0.0002	.	.	.	0.014	0.62352	D	0.999	0.77913	D	0.982	0.75477	D	0.000001	0.84330	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.867	0.86404	-0.0437	0.81340	T	0.360	0.72193	T	7	0.97108936	0.96712	D	.	.	.	.	.	0.882	0.96934	0.365509141856	0.36162	0.960141007681125	0.96000	.	.	0.54848587513	0.45644	T	0.456855	0.79546	T	-0.117287	0.33568	T	-0.146572	0.59547	T	0.851515710353851	0.50298	D	0.953005	0.82069	D	0.5006914	0.67135	0.3752178	0.62671	0.5006914	0.67136	0.3752178	0.62670	-9.97	0.73732	D	.	.	0.283	0.51540	B	.	.	4.949380	0.81744	27.6	0.99907971124516859	0.97801	0.94718	0.62091	D	AEFBI	.	.	.	0.314975411832367	0.56916	3.857291	0.211592398995131	0.50489	3.240461	0.946339183460402	0.27701	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.058706	0.01089	0	0.784498	0.46381	3.32	3.32	0.37134	2.323000	0.43482	.	.	0.526000	0.24426	0.969000	0.34210	0.658000	0.26000	0.266000	0.23669	0.0:1.0:0.0:0.0	12.152	0.53358	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1130.98	115	chr19	15628776	.	C	T	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=1567;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.569;SOR=0.823	GT:AD:DP:GQ:PL	0/1:68,47:115:99:1145,0,1651	20	0	1	0
chr19	16745081	16745081	G	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001290355:exon6:c.G25C:p.G9R,	.	.	427	1074	19	2	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.992	D	0.486	P	.	.	1.000	N	.	.	0.47	T	-0.997	T	0.126	T	0.139	-0.793	0.696	0.207	0.284	0.364	.	0.087	.	.	0.00319489	0.0154	0	0.0139	0	0	0.0140	0.0222	0.0166	0.0018305	283	154602	rs148288566	0.0089	0.0071	0.0081	0.0094	0.0138	0.0086	0.0085	0.0130	0.0127	0.0005	0.0027	0.0146	0	0.0107	0.0135	0.0086	0.0084	0.0138	0.0060	0.0060	0.0056	0.0064	0.0108	0.0057	0.0055	0.0084	0.0076	0.0009	0	0.0024	0.0130	0	0.0146	0	0.0084	0.0061	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	265.15	21	chr19	16745081	.	G	C	265.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.665e+00;DP=428;ExcessHet=0.0000;FS=3.981;InbreedingCoeff=-0.0312;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=1.74;SOR=0.215	GT:AD:DP:GQ:PL	0/1:8,13:21:99:279,0,196	20	0	1	0
chr19	16878292	16878292	G	A	exonic	SIN3B	.	nonsynonymous SNV	SIN3B:NM_001297597:exon9:c.G1834A:p.V612M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.174	B	0.011	B	0.000	D	0.726	D	-0.625	N	0.94	T	-1.023	T	0.044	T	0.278	1.556	11.16	4.92	2.277	1.840	11.605	0.082	0.00638922974373	.	.	4.013e-05	0	0.0001	0	0	4.829e-05	0	0	1.94e-05	3	154602	rs200083712	1.099e-05	1.163e-05	1.502e-05	6.906e-06	8.981e-05	6.5e-06	5.26e-06	2.38e-05	1.259e-05	8.981e-05	4.528e-05	0	2.532e-05	0	0	7.207e-06	0	2.343e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.715	0.05501	T	0.571	0.08839	T	0.174	0.28827	B	0.011	0.15521	B	0.000018	0.62929	D	0.070865	0.725654	0.33664	D	-0.16	0.04340	N	0.94	0.43672	T	0.38	0.03639	N	0.355	0.39659	-1.0228	0.22802	T	0.044	0.18948	T	10	0.1875534	0.34271	T	0.006389	0.16812	T	0.082	0.23913	0.763	0.89133	0.248133497653	0.24425	0.356329551651198	0.35546	0.210139789538	0.23496	0.598882198334	0.52746	T	0.073266	0.34657	T	-0.360912	0.04079	T	-0.507893	0.21532	T	0.101220943033695	0.12491	T	0.889211	0.62412	D	0.046471458	0.07784	0.054855525	0.09515	0.046471458	0.07783	0.054855525	0.09514	-3.649	0.18568	T	.	.	0.116	0.27373	B	.;.;.	.;.;.	2.974195	0.39654	21.0	0.98152400113236371	0.38696	0.82770	0.41953	D	AEFDBI	0.093735	0.18961	N	-0.289358183150987	0.29559	1.640233	-0.0652381599896651	0.36839	2.149003	0.192751674307369	0.18020	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	1.908000	0.39537	7.370000	0.58392	0.662000	0.56354	0.977000	0.34929	1.000000	0.68203	0.831000	0.39176	0.0824:0.0:0.9176:0.0	11.605	0.50286	970	0.06235	.;Sin3, C-terminal;Sin3, 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	2356.98	169	chr19	16878292	.	G	A	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=852;ExcessHet=0.0000;FS=5.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.369;SOR=0.439	GT:AD:DP:GQ:PL	0/1:70,99:169:99:2371,0,1565	20	0	1	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|2:16,0,2:18:1:0|1:17286672_G_T:1,50,435,0,385,379:17286672	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	1/2:0,2,14:16:26:.:.:1215,462,375,121,0,26	0	10	3	0
chr19	17834887	17834887	C	T	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon16:c.G2164A:p.V722I,	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	.	1	1437	82	2	0	86	0.0290541	.	.	138312	not_specified|JAK3-related_disorder|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_provided|Acute_megakaryoblastic_leukemia|Lymphoblastic_leukemia,_acute,_with_lymphomatous_features	MedGen:CN169374|.|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:C3661900|Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518|MONDO:MONDO:0009539,MedGen:C1855472,OMIM:247640,Orphanet:513	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.004	B	0.243	N	1.000	N	0.46	N	0.06	T	-1.014	T	0.085	T	0.081	0.858	8.473	0.248	-0.126	1.524	7.741	0.156	.	0.0095	0.00359425	0.0086	0.0023	0.0041	0	0.0035	0.0130	0.0077	0.0051	0.0085769	1326	154602	rs3213409	0.0100	0.0100	0.0099	0.0101	0.0229	0.0099	0.0098	0.0197	0.0185	0.0026	0.0057	0.0260	2.519e-05	0.0047	0.0229	0.0109	0.0095	0.0053	0.0075	0.0075	0.0082	0.0068	0.0115	0.0071	0.0070	0.0109	0.0106	0.0018	0	0.0069	0.0262	0	0.0033	0.0068	0.0115	0.0076	0.0064	0.029	0.47320	D	0.067	0.44302	T	0.001	0.07471	B	0.004	0.10090	B	0.243360	0.15664	N	0.618726	1	0.08975	N	0.49	0.13296	N	0.06	0.61798	T	-0.8	0.22294	N	0.032	0.01135	-1.0145	0.25497	T	0.085	0.33241	T	10	0.0028762817	0.00046	T	.	.	.	0.156	0.40720	.	.	0.348454897831	0.34454	0.5311442961215286	0.53038	0.391737070457	0.40370	0.366400837898	0.20314	T	0.405752	0.76185	T	-0.531877	0.00374	T	-0.526393	0.19648	T	0.0164766271593883	0.00412	T	0.564843	0.19943	T	0.048163924	0.08350	0.051704865	0.08375	0.048167907	0.08353	0.05393384	0.09178	-6.642	0.51825	T	0.11864946227562068	0.10969	0.071	0.03849	B	.;.;.	.;.;.	1.612184	0.20598	14.82	0.97845570022248962	0.36358	0.23033	0.21944	N	AEFBCI	0.110569	0.21921	N	-0.961122929809512	0.09444	0.4470025	-0.986255251364803	0.10093	0.5062114	0.696009353993551	0.22642	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.550183	0.17644	0	.	.	4.89	0.248	0.14786	3.042000	0.49504	0.717000	0.20982	0.524000	0.24156	0.175000	0.24000	0.000000	0.08366	0.013000	0.09966	0.0:0.6163:0.0:0.3837	7.741	0.28004	964	0.07719	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8107.68	182	chr19	17834887	.	C	T	8107.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.40;DP=1241;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.084e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/1:86,96:182:99:2617,0,1995	18	0	3	0
chr19	18213406	18213406	C	T	exonic	PDE4C	.	nonsynonymous SNV	PDE4C:NM_001369701:exon12:c.G877A:p.G293S	.	.	.	.	.	.	.	.	.	.	.	2390997	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	1.0	D	0.000	D	1.000	D	1.675	L	-0.44	T	-0.169	T	0.419	T	0.548	2.867	15.55	4.63	2.132	7.531	14.986	0.599	0.158366990081	.	.	2.48e-05	0	8.684e-05	0	0	3.005e-05	0	0	1.94e-05	3	154602	rs752486195	8.894e-06	8.893e-06	1.225e-05	5.501e-06	6.709e-05	4.96e-06	3.82e-06	1.779e-05	8.93e-06	2.989e-05	6.709e-05	0	0	0	0	6.296e-06	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.026	0.46910	D	0.038	0.51421	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999402	0.50806	D	1.995	0.54099	M	-0.44	0.69777	T	-5.83	0.88839	D	0.897	0.89689	-0.1685	0.78464	T	0.419	0.76503	T	10	0.9517045	0.94510	D	0.158367	0.83878	D	0.599	0.84128	0.848	0.95084	0.902565372613	0.90159	0.6313033846200625	0.63064	1.17208794008	0.79793	0.844628036022	0.88800	D	0.457473	0.86621	T	-0.0660619	0.41953	T	-0.156823	0.58636	T	0.962689399719238	0.66440	D	0.985761	0.95158	D	0.6974261	0.77916	0.44453445	0.67632	0.6974261	0.77918	0.44453445	0.67632	-10.789	0.78488	D	.	.	0.464	0.69803	A	.;.;.;.;.;.	.;.;.;.;.;.	3.887428	0.56536	23.7	0.99168730176019293	0.54326	0.96875	0.71414	D	AEFBI	0.949474	0.96216	D	0.331203204910076	0.57756	3.94433	0.23491821690039	0.51796	3.359092	0.999999394017758	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	7.617000	0.82227	7.538000	0.60033	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0:1.0:0.0:0.0	14.986	0.71003	923	0.18507	.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase 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	419.98	63	chr19	18213406	.	C	T	419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=743;ExcessHet=0.0000;FS=3.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=-9.900e-01;SOR=1.239	GT:AD:DP:GQ:PL	0/1:43,20:63:99:434,0,996	20	0	1	0
chr19	29615357	29615357	G	A	exonic	POP4	.	nonsynonymous SNV	POP4:NM_006627:exon7:c.G640A:p.A214T,	.	.	440	1060	21	1	0	23	0.0107326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.361	B	0.075	B	0.003	N	0.834	D	0.625	N	.	.	-0.948	T	0.100	T	0.404	3.305	17.11	6.17	2.941	4.512	15.248	0.043	.	0.0003	0.00259585	0.0014	0	0	0.0001	0	0.0004	0.0011	0.0088	0.001216	188	154602	rs143408535	0.0007	0.0007	0.0005	0.0010	0.0084	0.0007	0.0007	0.0078	0.0076	8.966e-05	0.0003	0	2.519e-05	1.873e-05	0.0082	0.0002	0.0011	0.0084	0.0006	0.0006	0.0004	0.0008	0.0106	0.0005	0.0005	0.0083	0.0075	9.639e-05	0	0.0003	0	0	0	0.0034	0.0004	0.0009	0.0106	.	.	.	0.477	0.12002	T	0.026	0.19406	B	0.005	0.11217	B	0.002919	0.35737	N	0.263220	0.833686	0.34957	D	1.405	0.35469	L	.	.	.	.	.	.	0.153	0.15749	-0.9484	0.41245	T	0.100	0.37060	T	9	0.008238256	0.00187	T	.	.	.	0.043	0.11576	.	.	0.252681307341	0.24864	0.5415715994778354	0.54082	0.135333160599	0.15256	0.398498415947	0.24859	T	0.026685	0.19696	T	-0.330749	0.06056	T	-0.241902	0.50613	T	0.0165160433832631	0.00415	T	0.851715	0.65300	D	0.1541593	0.34907	0.14179023	0.33753	0.1541593	0.34907	0.14179023	0.33752	-6.096	0.47076	T	.	.	0.103	0.18539	B	.;.	.;.	3.573730	0.50344	22.9	0.9962703304120808	0.75776	0.96603	0.69970	D	AEFDGBI	0.729455	0.67715	D	0.0184870462538853	0.42695	2.57744	0.236341159294988	0.51876	3.366491	0.999999923925911	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	3.977000	0.56581	8.551000	0.77529	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:0.0:0.8513:0.1487	15.248	0.73212	948	0.11499	Ribonuclease P/MRP, subunit p29;Ribonuclease P/MRP, subunit p29	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1359.98	119	chr19	29615357	.	G	A	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=939;ExcessHet=0.0000;FS=1.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-1.250e-01;SOR=0.873	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1374,0,1458	20	0	1	0
chr19	32794778	32794778	G	A	exonic	TDRD12	.	nonsynonymous SNV	TDRD12:NM_001366102:exon14:c.G1438A:p.G480R,	.	.	432	1055	33	2	0	37	0.0172333	.	.	2811954	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.247	B	0.109	B	0.000	D	1.000	D	.	.	1.02	T	-1.026	T	0.074	T	0.228	1.359	10.47	5.44	2.565	2.768	13.538	0.065	.	.	0.00459265	0.0090	0.0014	0.005	0	0.0018	0.0106	0.0208	0.0104	0.0020116	311	154602	rs34982176	0.0077	0.0068	0.0074	0.0080	0.0289	0.0075	0.0074	0.0247	0.0231	0.0017	0.0040	0.0117	3.115e-05	0.0019	0.0289	0.0089	0.0086	0.0093	0.0057	0.0057	0.0060	0.0053	0.0090	0.0054	0.0052	0.0084	0.0081	0.0011	0.0143	0.0058	0.0101	0.0002	0.0007	0.0342	0.0090	0.0085	0.0075	0.627	0.05198	T	0.0	0.92824	D	0.247	0.31125	B	0.109	0.31370	B	0.000214	0.47681	D	0.000000	0.737116	0.29772	N	.	.	.	1.02	0.40749	T	-0.98	0.25986	N	0.134	0.13055	-1.0257	0.21853	T	0.074	0.29928	T	9	0.0044124722	0.00090	T	.	.	.	0.065	0.18881	0.591	0.71999	0.199424873507	0.19547	.	.	.	.	0.394102066755	0.24246	T	0.001107	0.00619	T	-0.533207	0.00368	T	-0.53073	0.19215	T	0.0241311227214478	0.01162	T	0.730727	0.35772	T	0.14703566	0.33630	0.16563219	0.38306	0.14703566	0.33630	0.16563219	0.38305	-8.441	0.64037	D	.	.	0.157	0.34645	B	.;.	.;.	1.372129	0.17825	13.39	0.98987957021360784	0.49882	0.59274	0.30870	D	AEFDBIJ	0.431023	0.49349	N	-0.163986840372154	0.34642	1.979767	-0.112475397459442	0.34885	2.011863	0.999584243349535	0.40607	0.553676	0.25195	0	0.607795	0.50457	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	2.929000	0.48610	3.925000	0.40497	0.676000	0.76740	0.201000	0.24320	1.000000	0.68203	0.435000	0.27561	0.0748:0.0:0.9252:0.0	13.538	0.61116	708	0.56926	DEAD/DEAH box helicase domain;DEAD/DEAH box helicase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3252.66	91	chr19	32794778	.	G	A	3252.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.038;DP=821;ExcessHet=0.0000;FS=4.242;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.08;ReadPosRankSum=0.782;SOR=1.087	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1025,0,1136	19	1	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	0/1:152,22:174:40:40,0,3774	12	0	9	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K,	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1023	424	67	8	566	0.214286	.	.	142703	not_specified|Brugada_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.005	B	.	.	1.000	N	.	.	-2.5	D	-0.696	T	0.422	T	0.055	1.698	11.64	1.84	0.750	0.862	5.129	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.1429	11159.49	111	chr19	35034040	.	G	C,A	11159.49	.	AC=4,2;AF=0.095,0.048;AN=42;BaseQRankSum=-5.360e-01;DP=1237;ExcessHet=1.7912;FS=0.520;InbreedingCoeff=-0.1667;MLEAC=4,2;MLEAF=0.095,0.048;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-2.200e-02;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,44,0:111:99:0|1:35034035_C_A:1596,0,2654,1798,2787,4585:35034035	15	0	4	0
chr19	35527746	35527746	C	0	exonic	SBSN	.	.	.	.	.	427	1059	23	1	12	37	0.0116659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2598.15	211	chr19	35527746	.	C	G,*	2598.15	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.851e+00;DP=2067;ExcessHet=0.3300;FS=1.107;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=59.24;MQRankSum=3.51;QD=3.84;ReadPosRankSum=-2.316e+00;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,82:211:99:0|1:35527739_GGCCTGCCCTGCAGCATGGTGGACTCCCTGGCCAAACCTCCCAGCCTCATTTCCA_G:2184,2572,7300,0,4729,4460:35527739	18	0	1	0
chr19	38408864	38408864	-	AAG	exonic	FAM98C	.	stoploss	FAM98C:NM_001351675:exon6:c.786_787insAAG:p.*268delinsK*	.	.	422	1026	48	2	24	76	0.0247148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1039.05	48	chr19	38408861	.	CAAG	C,CAAGAAG	1039.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=834;ExcessHet=0.1072;FS=15.091;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=0.279;SOR=2.138	GT:AD:DP:GQ:PL	0/2:25,0,23:48:99:890,966,2016,0,1050,981	19	0	1	0
chr19	39866758	39866758	C	G	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon27:c.G12312C:p.L4104F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.999	D	0.954	D	0.160	U	1.000	N	1.04	L	-0.03	T	-0.891	T	0.241	T	0.151	1.446	10.78	2.34	0.519	0.253	6.621	0.183	0.0134746646779	0.0005	0.000199681	0.0008	0.0002	0.0006	0	0.0003	0.0013	0	0.0001	0.0007891	122	154602	rs140253776	0.0009	0.0007	0.0009	0.0009	0.0010	0.0008	0.0008	0.0009	0.0009	7.607e-05	0.0005	0.0021	0	0.0005	0.0009	0.0010	0.0006	0.0002	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0011	0.0009	0.0002	0.0004	0	0.0008	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1635.98	123	chr19	39866758	.	C	G	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=1619;ExcessHet=0.0000;FS=2.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=1.38;SOR=0.504	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1650,0,1434	20	0	1	0
chr19	40014189	40014189	G	-	exonic	ZNF546	.	frameshift deletion	ZNF546:NM_001297763:exon7:c.841delG:p.A283Pfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs746150300	6.158e-06	6.156e-06	6.807e-06	5.501e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1464.94	89	chr19	40014188	.	TG	T	1464.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.467e+00;DP=981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-4.370e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1479,0,1157	20	0	1	0
chr19	40394856	40394856	G	A	exonic	PRX	.	nonsynonymous SNV	PRX:NM_181882:exon7:c.C3496T:p.P1166S,	Charcot-Marie-Tooth disease, type 4F, Autosomal recessive;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	213454	Charcot-Marie-Tooth_disease_type_4F|Charcot-Marie-Tooth_disease|Inborn_genetic_diseases|not_provided|Charcot-Marie-Tooth_disease_type_4|not_specified	MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.009	B	0.007	B	0.848	N	1.000	N	0.805	L	5.43	T	-0.899	T	0.003	T	0.046	-0.677	1.046	0.776	0.067	-0.323	4.569	0.014	0.00462180957516	0.0007	0.000399361	0.0012	9.962e-05	0.0007	0	0	0.0019	0.0023	0.0005	0.0011255	174	154602	rs147826200	0.0011	0.0011	0.0011	0.0011	0.0047	0.0011	0.0010	0.0033	0.0028	0.0003	0.0009	3.826e-05	0	0.0002	0.0047	0.0013	0.0009	0.0003	0.0009	0.0009	0.0010	0.0008	0.0018	0.0008	0.0008	0.0013	0.0011	0.0003	0	0.0018	0	0	9.42e-05	0	0.0014	0	0.0008	0.25	0.17126	T	0.101	0.38596	T	0.009	0.15093	B	0.007	0.12992	B	0.848367	0.07041	N	1.087950	1	0.08975	N	1.24	0.30952	L	5.43	0.00989	T	-1.13	0.29114	N	0.053	0.02462	-0.8990	0.48094	T	0.003	0.00897	T	10	0.01178664	0.00256	T	0.004622	0.11440	T	0.014	0.01968	.	.	0.221019684889	0.21715	0.042971631696547656	0.04242	0.690809737265	0.60557	0.296810001135	0.09927	T	0.156544	0.49875	T	-0.679376	0.00048	T	-0.773281	0.02662	T	0.171787962317467	0.18701	T	0.49875	0.15541	T	0.0609509	0.12567	0.04947828	0.07568	0.0609509	0.12567	0.04947828	0.07567	-3.6	0.17857	T	0.14197933643532915	0.16020	0.061	0.01042	B	.	.	-0.558396	0.01688	0.122	0.46566599529453523	0.03740	0.11383	0.16597	N	AEFBI	0.078979	0.15945	N	-1.04436264278067	0.07699	0.3585271	-1.07136140826458	0.08268	0.4057676	2.71962854479544E-5	0.03498	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.67	0.776	0.17676	-0.455000	0.06837	.	.	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2513:0.1715:0.5772:0.0	4.569	0.11595	754	0.51307	.	.	.	.	.	.	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	1669.98	125	chr19	40394856	.	G	A	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=954;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-2.008e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1684,0,1596	20	0	1	0
chr19	43554776	43554776	G	T	exonic	XRCC1	.	nonsynonymous SNV	XRCC1:NM_006297:exon4:c.C284A:p.S95Y,	.	.	402	1119	1	0	0	1	0.000446628	.	.	2207627	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.52	M	1.93	T	-0.793	T	0.164	T	0.878	3.981	20.4	3.88	1.356	6.697	11.630	0.437	0.0718869556651	.	.	8.281e-06	9.658e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs200146769	2.738e-06	2.736e-06	0	5.505e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	1.657e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.997	0.70673	D	0.995	0.83170	D	0.000003	0.62929	D	0.107006	0.999947	0.52396	D	.	.	.	1.93	0.22881	T	-5.08	0.82896	D	0.936	0.94196	-0.7933	0.55537	T	0.164	0.50176	T	10	0.80167305	0.79560	D	0.071887	0.71389	D	0.437	0.74164	0.691	0.82843	0.596401026678	0.59319	0.7169854114893889	0.71641	0.926345379218	0.71657	0.817588686943	0.84658	D	0.146323	0.48388	T	0.0922144	0.63437	D	0.0762111	0.75326	D	0.991537690162659	0.81842	D	0.946005	0.86758	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.876	0.87259	P	.;.;.;.	.;.;.;.	4.556059	0.71747	25.7	0.99500926887580587	0.68031	0.90345	0.51447	D	AEFDBCI	0.732783	0.67943	D	0.695043619851654	0.79309	7.050296	0.624841073247819	0.76748	6.54865	0.899047277932616	0.26041	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.92	3.88	0.43959	6.873000	0.75341	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0897:0.0:0.9103:0.0	11.630	0.50427	889	0.27310	.;DNA-repair protein Xrcc1, N-terminal;DNA-repair protein Xrcc1, N-terminal;DNA-repair protein Xrcc1, N-terminal	.	.	.	.	.	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	977.98	119	chr19	43554776	.	G	T	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.873;SOR=0.696	GT:AD:DP:GQ:PL	0/1:73,46:119:99:992,0,1677	20	0	1	0
chr19	44156264	44156264	A	G	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.A248G:p.Q83R	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.993	D	0.968	D	.	.	1.000	N	0.39	N	3.44	T	-1.016	T	0.019	T	0.318	3.199	16.71	-1.31	-0.463	-0.477	4.89	0.078	0.00275052414931	8e-05	.	0.0002	0	0.0002	0	0.0002	0.0002	0	0.0004	0.000194	30	154602	rs200302391	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	6.453e-05	0.0001	0	2.535e-05	7.849e-05	0	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	0.0003	0	0.0014	0.312	0.13925	T	0.586	0.08332	T	0.993	0.65571	D	0.968	0.71741	D	.	.	.	.	1	0.08975	N	2.265	0.64440	M	3.44	0.05375	T	-1.63	0.39119	N	0.123	0.11483	-1.0158	0.25078	T	0.019	0.07846	T	9	0.064894944	0.08675	T	0.002751	0.05694	T	0.078	0.22779	.	.	0.402471007487	0.39861	0.019531885081378413	0.01907	0.109034511512	0.12296	0.214012622833	0.00993	T	0.004634	0.04039	T	-0.506659	0.00524	T	-0.597964	0.12982	T	0.0380275457280497	0.03336	T	0.147585	0.01223	T	0.026663667	0.01752	0.082304746	0.18774	0.026663667	0.01752	0.082304746	0.18773	-4.964	0.36447	T	.	.	0.069	0.03162	B	.;.	.;.	1.797144	0.22847	15.78	0.98275628090387646	0.39805	0.05052	0.10841	N	AEFDBCI	0.058916	0.11088	N	-0.746293008128647	0.14733	0.7364827	-0.895779618366162	0.12193	0.6258082	0.0022733904639613	0.09286	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.9	-1.31	0.08749	-0.884000	0.04273	.	.	-0.205000	0.08568	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.3868:0.3264:0.0:0.2868	4.89	0.13079	835	0.38313	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	0.04762	1827.11	92	chr19	44156264	.	A	G	1827.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.210;DP=821;ExcessHet=0.1072;FS=0.608;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.59;SOR=0.765	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1050,0,1194	19	0	2	0
chr19	44882231	44882231	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_001042724:exon6:c.G1063A:p.A355T,	.	.	428	1075	17	2	0	21	0.00967296	.	.	705094	not_provided|NECTIN2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.995	D	0.010	N	1.000	D	0.975	L	-0.91	T	-0.442	T	0.360	T	0.471	3.557	18.14	5.65	2.678	5.445	17.230	0.272	.	0.0057	0.00119808	0.0045	0.0008	0.0031	0.0001	0.0008	0.0064	0.0102	0.0030	0.0041073	635	154602	rs187706273	0.0054	0.0053	0.0053	0.0054	0.0063	0.0053	0.0052	0.0062	0.0061	0.0005	0.0020	0.0040	0.0004	0.0009	0.0022	0.0063	0.0037	0.0025	0.0037	0.0037	0.0041	0.0032	0.0067	0.0034	0.0033	0.0062	0.0060	0.0009	0	0.0016	0.0052	0.0004	0.0004	0	0.0067	0.0024	0.0017	0.183	0.21718	T	0.263	0.22828	T	1.0	0.90584	D	0.995	0.83170	D	0.009720	0.30236	N	0.234695	0.999968	0.52935	D	.	.	.	-0.91	0.75001	T	-1.18	0.30140	N	0.491	0.52475	-0.4422	0.70657	T	0.360	0.72163	T	10	0.012210935	0.00263	T	.	.	.	0.272	0.58758	.	.	0.871543190638	0.87029	0.28142651281630243	0.28055	0.731314236594	0.62740	0.550936341286	0.45989	T	0.101899	0.40910	T	-0.308542	0.07878	T	-0.209436	0.53748	T	0.0125267052763995	0.00207	T	0.79802	0.44234	T	0.111136384	0.26264	0.1059137	0.25470	0.111136384	0.26263	0.1059137	0.25470	-4.464	0.30414	T	.	.	0.229	0.46097	B	.	.	3.343349	0.46082	22.2	0.99780207879593275	0.86693	0.89362	0.49781	D	AEFBI	0.598349	0.59178	D	0.563878049893635	0.70932	5.574614	0.602633781147608	0.75131	6.256594	0.981929744730446	0.30328	0.634777	0.41761	0	0.588015	0.36545	0	0.606735	0.37207	0	0.645665	0.59343	0	.	.	5.65	5.65	0.86881	5.518000	0.66782	.	.	0.662000	0.56354	0.996000	0.39380	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	17.230	0.86865	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1548.11	55	chr19	44882231	.	G	A	1548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.87;DP=777;ExcessHet=0.1072;FS=6.929;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.177;SOR=1.302	GT:AD:DP:GQ:PL	0/1:26,29:55:99:811,0,523	19	0	2	0
chr19	45152354	45152354	G	A	exonic	NKPD1	.	nonsynonymous SNV	NKPD1:NM_198478:exon4:c.C2083T:p.R695C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.748	N	1.000	D	-0.755	N	0.93	T	-1.099	T	0.039	T	0.056	1.743	11.79	-2.7	-0.487	0.298	5.174	0.048	0.0190504095084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.891e-07	2.736e-06	1.369e-06	0	9.035e-07	0	0	.	.	0	0	0	0	0	0	9.035e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.45110	T	0.0	0.02946	B	0.0	0.01387	B	0.747758	0.06466	N	1.344050	1	0.81001	D	-1.39	0.00611	N	0.93	0.44065	T	.	.	.	0.051	0.02272	-1.0985	0.04277	T	0.039	0.16806	T	10	0.0427725	0.03059	T	0.01905	0.41305	T	0.048	0.13305	0.439	0.49321	0.203808441222	0.19973	0.21878837040546303	0.21794	0.984425732197	0.73851	0.583187580109	0.50535	T	0.046031	0.27302	T	-0.331013	0.06036	T	-0.713253	0.05129	T	0.0780218581046889	0.09732	T	0.683732	0.29211	T	0.08023081	0.18372	0.11310496	0.27295	0.08023081	0.18372	0.11310496	0.27295	-1.835	0.02616	T	.	.	0.074	0.04975	B	.;.	.;.	2.087749	0.26558	17.16	0.95295843009928771	0.26609	0.10001	0.15625	N	AEFDBCI	0.059003	0.11111	N	-1.08041596259682	0.07005	0.3241175	-0.972590894053084	0.10403	0.5237598	0.999338515213898	0.39185	0.455138	0.09556	0	0.552344	0.17405	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	4.79	-2.7	0.05651	0.073000	0.14504	1.393000	0.26132	-0.212000	0.08331	0.001000	0.13787	0.659000	0.26006	0.981000	0.58702	0.2636:0.0:0.4578:0.2786	5.174	0.14451	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	1480.98	115	chr19	45152354	.	G	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-5.440e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1495,0,1479	20	0	1	0
chr19	45413721	45413721	A	G	exonic	ERCC1	.	nonsynonymous SNV	ERCC1:NM_001369411:exon7:c.T727C:p.S243P	Cerebrooculofacioskeletal syndrome 4, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	626277	not_provided|Cerebrooculofacioskeletal_syndrome_4	MedGen:CN517202|MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	2.795	M	0.4	T	0.048	D	0.492	T	0.858	3.673	18.67	4.98	2.110	6.604	11.032	0.447	0.140987873664	0.0003	.	0.0002	0	0.0002	0	0	0.0002	0.0033	0.0004	0.0001617	25	154602	rs146256515	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0005	0.0004	0.0001	0.0003	0.0018	0	0	0.0011	6.924e-05	0.0003	0.0006	0.0001	0.0001	0.0001	0.0001	0.0002	7.094e-05	5.75e-05	3.762e-05	2.575e-05	0	0	6.549e-05	0.0020	0	0	0	8.819e-05	0.0010	0.0002	0.031	0.45039	D	0.019	0.60337	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	2.925	0.84406	M	0.4	0.68754	T	-3.87	0.72594	D	0.785	0.80473	0.048	0.83199	D	0.492	0.80698	T	10	0.504733	0.61752	D	0.140988	0.82342	D	0.447	0.74866	.	.	0.714945984872	0.71244	0.8161048006569775	0.81566	0.702002171826	0.61195	0.584599018097	0.50733	T	0.326485	0.69710	T	0.0477232	0.58050	T	0.187152	0.82406	D	0.55182009935379	0.34546	D	0.813119	0.46553	T	0.7625674	0.81606	0.56877184	0.75034	0.7907229	0.83320	0.5100548	0.71687	-9.218	0.69089	D	0.3242910697629077	0.42243	0.234	0.46677	B	.;.;.;.;.;.	.;.;.;.;.;.	3.722174	0.53200	23.3	0.99738478025317523	0.83337	0.97888	0.77885	D	AEFDBI	0.797795	0.72453	D	0.570641096276503	0.71347	5.637151	0.432315215771083	0.63588	4.59572	0.999979591748004	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	6.625000	0.74112	11.029000	0.85041	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	1.0:0.0:0.0:0.0	11.032	0.46993	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	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	348.98	36	chr19	45413721	.	A	G	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.473e+00;DP=697;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=0.519;SOR=0.527	GT:AD:DP:GQ:PL	0/1:22,14:36:99:363,0,718	20	0	1	0
chr19	46782545	46782545	G	C	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.C56G:p.P19R	.	.	427	1092	3	0	0	3	0.00137174	.	.	3214267	SLC1A5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.051	B	0.114	B	.	.	1.000	D	1.485	L	0.58	T	-0.930	T	0.159	T	0.637	2.385	13.93	2.6	0.536	7.426	8.546	0.255	0.0768672815685	0.0022	0.000998403	0.0020	0.0006	0.0010	0	0.0002	0.0027	0.0022	0.0029	0.0021022	325	154602	rs140908383	0.0027	0.0027	0.0027	0.0027	0.0031	0.0026	0.0026	0.0031	0.0030	0.0002	0.0006	3.826e-05	0	0.0005	0.0026	0.0031	0.0019	0.0031	0.0018	0.0019	0.0019	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0007	0	0.0015	0	0.0002	0.0003	0	0.0031	0.0024	0.0023	0.05	0.39575	D	0.057	0.46406	T	0.031	0.20130	B	0.114	0.31755	B	.	.	.	.	0.700633	0.81001	D	2.135	0.59519	M	0.58	0.71543	T	-5.12	0.86073	D	0.719	0.87157	-0.9299	0.44153	T	0.159	0.49296	T	9	0.050892085	0.04889	T	0.076867	0.72635	D	0.255	0.56562	.	.	0.866366014938	0.86506	0.8064361160471855	0.80598	0.685980076296	0.60309	0.549354553223	0.45767	T	0.395609	0.75445	T	-0.234837	0.16013	T	-0.107769	0.62789	T	0.133869610420539	0.15735	T	0.777022	0.40965	T	0.18600923	0.39990	0.23905762	0.49245	0.18600923	0.39989	0.23905762	0.49244	-4.254	0.40425	T	.	.	0.129	0.56933	B	.;.;.	.;.;.	2.537396	0.32816	19.16	0.95137448044191542	0.26256	0.98593	0.84474	D	AEFBHCI	0.892414	0.82932	D	-0.369517364913626	0.26561	1.450529	-0.3600786081502	0.26198	1.445537	0.999999989571933	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	4.77	2.6	0.30173	7.584000	0.81862	4.807000	0.45013	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0827:0.0:0.7642:0.1531	8.546	0.32580	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	0	0	0	0	0.02381	788.98	66	chr19	46782545	.	G	C	788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.940;SOR=0.742	GT:AD:DP:GQ:PL	0/1:30,36:66:99:803,0,689	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	0/1:74,65:139:99:1665,0,1920	18	0	3	0
chr19	48286567	48286567	T	A	exonic	ZNF114	.	nonsynonymous SNV	ZNF114:NM_001331097:exon6:c.T943A:p.Y315N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.968	D	0.738	P	.	.	1.000	N	1.035	L	3.09	T	-1.020	T	0.026	T	0.304	0.041	4.226	2.49	1.417	-1.220	5.654	0.053	0.00125812341601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.17526	T	0.282	0.21545	T	0.968	0.56581	D	0.738	0.55619	P	.	.	.	.	1	0.08975	N	0.605	0.15622	N	3.09	0.08371	T	-2.82	0.59545	D	0.252	0.28498	-1.0197	0.23812	T	0.026	0.10998	T	9	0.15602317	0.29394	T	0.001258	0.01708	T	0.053	0.14996	0.508	0.60386	0.163833314356	0.15978	0.02685025346828323	0.02635	0.643226507615	0.57866	0.466105878353	0.34147	T	0.052003	0.29039	T	-0.260834	0.12804	T	-0.612447	0.11786	T	0.403069886879654	0.29058	T	0.632737	0.24712	T	0.14125957	0.32557	0.20940675	0.45283	0.14125957	0.32557	0.20940675	0.45282	-4.752	0.34027	T	.	.	0.916	0.83922	P	.;.;.	.;.;.	1.983379	0.25196	16.67	0.48409841752939298	0.04037	0.06722	0.12743	N	AEBCI	0.066528	0.13032	N	-0.388025356113769	0.25894	1.409124	-0.5628433363221	0.20465	1.102728	0.176278228532017	0.17808	0.460665	0.09802	0	0.588066	0.40923	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	2.49	2.49	0.29274	-3.140000	0.00647	-10.676000	0.00677	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.753000	0.35893	0.0:0.0:0.2834:0.7166	5.654	0.16911	917	0.20147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1768.98	124	chr19	48286567	.	T	A	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.954;DP=819;ExcessHet=0.0000;FS=4.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.060;SOR=0.383	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1783,0,1678	20	0	1	0
chr19	48627698	48627698	C	T	exonic	SPHK2	.	nonsynonymous SNV	SPHK2:NM_001204160:exon3:c.C410T:p.T137I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.799	P	0.164	B	0.003	N	0.770	D	1.1	L	2.19	T	-1.014	T	0.037	T	0.419	1.272	10.15	3.65	1.050	-0.684	5.926	0.078	0.042562997176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1443541235	1.315e-05	1.436e-05	9.621e-06	1.673e-05	0.0016	8.41e-06	6.78e-06	0.0008	0.0006	0	0	0	0	0	0.0016	9.066e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.424	0.09717	T	0.039	0.54934	D	0.483	0.36807	P	0.058	0.26451	B	0.002965	0.35639	N	0.276337	0.72371	0.34135	D	1.59	0.40313	L	2.19	0.31205	T	-0.87	0.23590	N	0.3	0.35832	-1.0136	0.25784	T	0.037	0.15770	T	10	0.09750736	0.17567	T	0.042563	0.60531	D	0.078	0.22779	0.333	0.32005	0.418718287753	0.41490	0.4724939423285051	0.47168	0.553627443534	0.52127	0.588596701622	0.51295	T	0.265165	0.69971	T	-0.159073	0.26902	T	-0.466274	0.25919	T	0.114608063132538	0.13895	T	0.871313	0.57716	D	0.07846499	0.17868	0.04454393	0.05795	0.07846499	0.17868	0.04454393	0.05795	-7.728	0.60989	D	.	.	0.138	0.31482	B	.;.;.;.;.;.	.;.;.;.;.;.	1.205084	0.15976	12.23	0.97383100012162593	0.33681	0.26297	0.22952	N	AEFDGBCI	0.174699	0.30185	N	-0.457264520626248	0.23495	1.262088	-0.433709654562803	0.24015	1.312721	0.999949040739727	0.47345	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.74	3.65	0.40985	0.029000	0.13555	1.741000	0.28400	0.599000	0.40250	0.004000	0.16614	0.918000	0.28264	0.895000	0.43227	0.1923:0.709:0.0:0.0987	5.926	0.18350	711	0.56613	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	834.98	72	chr19	48627698	.	C	T	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=1.32;SOR=0.791	GT:AD:DP:GQ:PL	0/1:40,32:72:99:849,0,1028	20	0	1	0
chr19	49032504	49032504	G	A	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_033378:exon2:c.G10A:p.G4R,	.	.	78	1422	21	1	0	23	0.00802232	0.2826	0.454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.996	D	0.599	N	0.515	D	2.325	M	0.99	T	-0.607	T	0.235	T	0.431	1.969	12.54	2.45	1.313	4.596	8.976	0.220	.	0.0033	0.00359425	0.0082	0.0027	0.0135	0.0003	0.0070	0.0098	0.0118	0.0072	0.0021899	57	26028	rs144929524	0.0055	0.0055	0.0056	0.0055	0.0163	0.0054	0.0054	0.0132	0.0120	0.0009	0.0059	0.0030	2.543e-05	0.0028	0.0163	0.0059	0.0060	0.0053	0.0044	0.0045	0.0046	0.0043	0.0077	0.0042	0.0041	0.0066	0.0062	0.0012	0.0011	0.0077	0.0029	0	0.0024	0.0138	0.0064	0.0072	0.0036	0.104	0.29959	T	0.009	0.66756	D	.	.	.	.	.	.	0.599108	0.10976	N	0.804563	0.515301	0.31852	D	.	.	.	0.99	0.41750	T	-1.13	0.29114	N	0.566	0.58968	-0.6073	0.64515	T	0.235	0.60185	T	9	0.013303727	0.00283	T	.	.	.	0.220	0.51569	0.414	0.45216	0.654012466794	0.65112	0.4350314818241762	0.43420	3.40020819914	0.99696	0.694726705551	0.66384	T	.	.	.	-0.429351	0.01495	T	-0.387728	0.34818	T	0.0500308654537757	0.05506	T	0.465053	0.13602	T	0.11048758	0.26115	0.12610984	0.30376	0.11048758	0.26115	0.12610984	0.30376	-4.32	0.28457	T	.	.	0.383	0.58617	A	.	.	5.472398	0.91291	32	0.99816312420500131	0.89973	0.90942	0.52554	D	AEFBI	0.415470	0.48432	N	0.30472550932327	0.56392	3.803721	0.137176217975609	0.46466	2.892154	1.88447444572071E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.45	2.45	0.28953	5.237000	0.65185	7.725000	0.67498	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.0:1.0:0.0	8.976	0.35094	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	401.98	33	chr19	49032504	.	G	A	401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=631;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.30;MQRankSum=-4.530e-01;QD=12.18;ReadPosRankSum=0.295;SOR=0.724	GT:AD:DP:GQ:PL	0/1:20,13:33:99:416,0,588	20	0	1	0
chr19	49032576	49032576	C	G	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_001319065:exon2:c.C46G:p.R16G	.	.	175	1315	28	4	0	36	0.0135034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.969	D	0.003	N	0.949	N	2.49	M	-2.77	D	0.091	D	0.727	D	0.313	1.513	11.01	0.624	0.269	0.736	7.147	0.314	.	0.0038	0.00599042	0.0125	0.0018	0.0190	0	0.0062	0.0164	0.0294	0.0101	0.0025357	66	26028	rs369311910	0.0083	0.0082	0.0083	0.0083	0.0429	0.0082	0.0081	0.0377	0.0357	0.0031	0.0114	0.0270	2.661e-05	0.0029	0.0429	0.0081	0.0123	0.0074	0.0071	0.0071	0.0073	0.0069	0.0119	0.0067	0.0066	0.0104	0.0099	0.0025	0.0011	0.0119	0.0249	0	0.0027	0.0442	0.0089	0.0106	0.0058	0.004	0.65419	D	0.22	0.31629	T	.	.	.	.	.	.	0.003164	0.35330	N	0.277463	0.949426	0.26537	N	.	.	.	-2.77	0.90904	D	-3.56	0.68880	D	0.439	0.47765	0.091	0.84012	D	0.727	0.90655	D	10	0.013537228	0.00287	T	.	.	.	0.314	0.63588	.	.	0.914968962474	0.91411	0.44295366875919373	0.44212	3.3389385424	0.99635	0.413342803717	0.26920	T	.	.	.	-0.293793	0.09258	T	-0.185395	0.56020	T	0.0318637057931176	0.02284	T	0.928407	0.73561	D	0.42292413	0.62286	0.26347303	0.52154	0.42292413	0.62286	0.26347303	0.52153	-6.17	0.47679	T	.	.	0.268	0.53024	B	.;.	.;.	2.957116	0.39368	20.9	0.98790799955104336	0.46285	0.66708	0.33172	D	AEFI	0.251763	0.37157	N	0.0205258550701362	0.42790	2.584822	-0.190588880306432	0.31882	1.808461	5.27173936388819E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	0.624	0.16833	0.886000	0.27878	1.148000	0.24458	0.291000	0.18778	0.987000	0.36337	0.871000	0.27593	0.009000	0.08673	0.2676:0.7324:0.0:0.0	7.147	0.24764	769	0.49307	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.05	420.82	15	chr19	49032576	.	C	G	420.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.29;DP=243;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0641;MLEAC=2;MLEAF=0.050;MQ=39.20;MQRankSum=0.00;QD=14.51;ReadPosRankSum=0.400;SOR=1.609	GT:AD:DP:GQ:PL	0/1:6,9:15:99:293,0,140	18	0	2	1
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,44,0,0:44:99:.:.:1802,133,0,1802,133,1802,1802,133,1802,1802	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,44,0,0:44:99:.:.:1802,133,0,1802,133,1802,1802,133,1802,1802	5	4	8	0
chr19	49190772	49190772	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon11:c.G1147A:p.G383R	Progressive familial heart block, type IB, Autosomal dominant	.	1	1503	18	0	0	18	0.00595238	0	0.008	471078	not_specified|Hypertrophic_cardiomyopathy|not_provided|TRPM4-related_disorder|Cardiovascular_phenotype|Progressive_familial_heart_block_type_IB	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C3661900|MedGen:CN239424|MedGen:CN230736|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.993	D	0.713	P	0.559	N	1.000	N	1.15	L	-0.23	T	-0.784	T	0.244	T	0.058	-0.119	3.417	-7.16	-1.219	-0.970	5.659	0.052	.	0.0016	0.00339457	0.0021	0.0007	0.0010	0	0	0.0017	0.0011	0.0076	0.0019663	304	154602	rs145847114	0.0019	0.0019	0.0017	0.0021	0.0080	0.0019	0.0018	0.0069	0.0067	0.0004	0.0016	0.0023	0	5.616e-05	0.0080	0.0016	0.0023	0.0073	0.0019	0.0019	0.0017	0.0020	0.0081	0.0017	0.0016	0.0061	0.0054	0.0006	0	0.0045	0.0032	0.0002	0	0.0068	0.0020	0.0024	0.0081	0.351	0.31532	T	0.383	0.44905	T	0.029	0.65571	B	0.004	0.54588	B	0.559069	0.11355	N	0.765258	0.999998	0.18198	N	1.215	0.30540	L	-0.78	0.73631	T	-0.86	0.23372	N	0.106	0.17140	-0.7843	0.56059	T	0.244	0.61272	T	10	0.0053512156	0.00158	T	.	.	.	0.052	0.14661	0.207	0.12356	0.414021929199	0.41020	0.29411502003148443	0.29324	0.341058034284	0.36042	0.426400899887	0.28717	T	0.113814	0.43114	T	-0.560977	0.00250	T	-0.574995	0.14994	T	0.0012355460696675	0.00012	T	0.631737	0.24648	T	0.055500925	0.10794	0.04793476	0.07013	0.07357339	0.16450	0.06681196	0.13737	-4.552	0.31563	T	.	.	0.080	0.07985	B	.;.	.;.	-0.448845	0.02037	0.184	0.38968747206885496	0.02660	0.00947	0.03649	N	AEFDBI	0.035433	0.04561	N	-1.65416017566898	0.01017	0.04411651	-1.80202939046551	0.00752	0.03355292	0.0736113551052467	0.15640	0.615465	0.37627	0	0.578056	0.33634	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.82	-7.16	0.01364	-0.841000	0.04467	-0.546000	0.08555	-0.890000	0.02392	0.001000	0.13787	0.000000	0.08366	0.246000	0.23158	0.505:0.2724:0.2225:0.0	5.659	0.16932	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	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	4123.11	203	chr19	49190772	.	G	A	4123.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.23;DP=1068;ExcessHet=0.1072;FS=3.563;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.06;SOR=0.520	GT:AD:DP:GQ:PL	0/1:105,98:203:99:2565,0,2573	19	0	2	0
chr19	50046559	50046559	G	A	exonic	ZNF473	.	nonsynonymous SNV	ZNF473:NM_001308424:exon4:c.G2080A:p.E694K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.965	D	0.465	P	0.289	N	1.000	N	1.42	L	5.26	T	-0.868	T	0.006	T	0.34	1.734	11.76	3.03	1.277	0.502	11.985	0.053	0.0143039779005	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200067761	3.42e-06	3.42e-06	2.722e-06	4.125e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	0	2.319e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.067	0.35918	T	0.028	0.59732	D	0.965	0.56013	D	0.465	0.46596	P	0.289280	0.14799	N	0.566777	0.99992	0.19694	N	1.755	0.45626	L	5.26	0.01121	T	-3.09	0.65397	D	0.214	0.26233	-0.8676	0.50709	T	0.006	0.01944	T	10	0.18464732	0.33848	T	0.014304	0.34324	T	0.053	0.14996	.	.	0.375026046212	0.37117	0.13064048833410227	0.12989	0.562887643132	0.52745	0.308940529823	0.11747	T	0.017296	0.14133	T	-0.310897	0.07670	T	-0.502831	0.22054	T	0.835275888442993	0.48946	D	0.433257	0.11819	T	0.16633564	0.36962	0.15689316	0.36712	0.16633564	0.36962	0.15689316	0.36711	-5.869	0.45170	T	.	.	0.349	0.56702	A	.;.;.;.	.;.;.;.	1.902101	0.24156	16.29	0.99694978352064179	0.80180	0.00380	0.01923	N	AEFBHCI	0.069105	0.13663	N	-0.274180840356647	0.30149	1.678388	-0.424082080331095	0.24293	1.32947	0.333441972955457	0.19509	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.1	3.03	0.34070	0.363000	0.20037	1.030000	0.23473	0.654000	0.53741	0.000000	0.06391	0.003000	0.18671	0.234000	0.22842	0.0:0.1769:0.8231:0.0	11.985	0.52430	740	0.53092	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2018.98	152	chr19	50046559	.	G	A	2018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-5.700e-02;SOR=0.658	GT:AD:DP:GQ:PL	0/1:79,73:152:99:2033,0,2059	20	0	1	0
chr19	51491780	51491780	G	A	exonic	SIGLEC12	.	nonsynonymous SNV	SIGLEC12:NM_033329:exon7:c.C1295T:p.P432L	.	.	407	1085	30	0	0	30	0.0136364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.978	D	0.411	B	.	.	1.000	N	2.02	M	0.86	T	-0.993	T	0.113	T	0.197	0.839	8.389	-0.29	0.026	-0.678	3.308	0.029	.	0.0029	0.00339457	0.0065	0.0007	0.0037	0	0.0008	0.0045	0.0197	0.0294	0.0059378	918	154602	rs148583756	0.0043	0.0043	0.0036	0.0050	0.0250	0.0042	0.0042	0.0241	0.0238	0.0007	0.0032	0.0226	7.577e-05	0.0008	0.0123	0.0026	0.0055	0.0250	0.0033	0.0033	0.0030	0.0036	0.0216	0.0030	0.0029	0.0183	0.0170	0.0008	0.0011	0.0028	0.0237	0.0002	0.0003	0.0136	0.0032	0.0033	0.0216	0.039	0.42487	D	0.004	0.74150	D	0.059	0.58756	B	0.012	0.44827	B	.	.	.	.	1	0.08975	N	1.565	0.39561	L	0.86	0.46777	T	-3.03	0.62747	D	0.076	0.12627	-0.9929	0.31853	T	0.113	0.40307	T	9	0.005008042	0.00108	T	.	.	.	0.029	0.06676	.	.	0.320256813643	0.31633	0.0927146187490486	0.09203	0.0467582809392	0.05084	0.319799989462	0.13390	T	0.007289	0.06705	T	-0.585534	0.00178	T	-0.594259	0.13300	T	0.00936255406809378	0.00120	T	0.437456	0.12031	T	0.03649728	0.04500	0.053342342	0.08965	0.03649728	0.04499	0.053342342	0.08964	-4.158	0.26141	T	.	.	0.076	0.05935	B	.;.	.;.	0.360670	0.07334	3.949	0.90402295192980797	0.19663	0.00442	0.02154	N	AEFDBI	0.047985	0.08140	N	-0.746523125541995	0.14728	0.7361206	-0.955227494355757	0.10802	0.54642	8.23005530856632E-5	0.04703	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.08	-0.29	0.12211	-0.494000	0.06532	.	.	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.174:0.276:0.5501:0.0	3.308	0.06595	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6049.68	113	chr19	51491780	.	G	A	6049.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.498;DP=1268;ExcessHet=0.3300;FS=1.211;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.613;SOR=0.763	GT:AD:DP:GQ:PL	0/1:46,67:113:99:1842,0,1139	18	0	3	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|2:20,0,18:38:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:664,728,1572,0,844,790:52384817	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|2:21,0,8,0:29:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:273,336,1218,0,882,858,336,1218,882,1218:52384817	13	0	3	0
chr19	52384823	52384823	-	TGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1243_1244insTGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG:p.K415_R577delinsMRSGDRDHPG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0024	0.0009	0.0008	0.0016	0.0008	0.0008	0.0013	0.0012	0.0013	0.0007	0.0025	0.0016	0.0021	0.0013	0.0007	0.0016	0.0003	0.0032	0.0058	0.0032	0.0032	0.0034	0.0030	0.0029	0.0031	0.0029	0.0028	0.0057	0.0034	0.0042	0.0020	0.0031	0.0038	0.0034	0.0035	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	781.36	29	chr19	52384823	.	A	ATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC,ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	781.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.162;DP=1374;ExcessHet=0.3300;FS=74.449;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=58.96;MQRankSum=-2.862e+00;QD=4.41;ReadPosRankSum=-2.141e+00;SOR=6.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,8,0:29:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:273,0,858,336,882,1218:52384817	18	0	2	0
chr19	53824168	53824168	G	A	exonic	NLRP12	.	stopgain	NLRP12:NM_001277126:exon1:c.C7T:p.R3X	Familial cold autoinflammatory syndrome 2, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	648487	Familial_cold_autoinflammatory_syndrome_2|not_provided	MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.9	T	.	.	.	.	0.757	N	1.000	N	.	.	.	.	.	.	.	.	.	5.177	32	-6.91	-0.709	-0.010	1.884	.	.	.	.	2.478e-05	0	8.649e-05	0	0	0	0.0011	6.06e-05	3.88e-05	6	154602	rs761868541	5.199e-05	5.267e-05	4.765e-05	5.638e-05	9.275e-05	4.159e-05	3.888e-05	4.612e-05	4.197e-05	0	2.236e-05	0	5.038e-05	0	0	5.755e-05	1.656e-05	9.275e-05	6.574e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.756563	0.09657	N	0.828761	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.518	0.54845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0698929	0.41343	T	-0.0784937	0.65014	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.;.	.;.;High;.;.	7.921409	0.96993	36	0.9784635197978695	0.36365	0.02727	0.07393	N	AEFDBCI	0.042342	0.06557	N	-0.345258093604357	0.27447	1.505936	-0.779488140169356	0.14998	0.7865909	0.999999987164502	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.467745	0.07146	0	0.613276	0.41899	0	.	.	4.7	-6.91	0.01490	-0.697000	0.05199	.	.	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.306:0.3554:0.2185:0.1202	1.884	0.03038	994	0.00715	DAPIN domain;.;.;DAPIN domain;DAPIN domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	587.98	63	chr19	53824168	.	G	A	587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=873;ExcessHet=0.0000;FS=2.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=-2.860e-01;SOR=1.128	GT:AD:DP:GQ:PL	0/1:40,23:63:99:602,0,992	20	0	1	0
chr19	54336873	54336873	T	A	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.A1223T:p.H408L,	.	.	1	1510	11	0	0	11	0.00362917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.001	B	0.003	N	1.000	N	1.06	L	5.84	T	-0.894	T	0.003	T	0.182	0.197	5.063	-1.74	-0.517	-2.031	3.082	0.035	.	0.0002	0.0147764	0.0105	0.0428	0.0058	0.0006	0.0030	0.0071	0.0165	0.0156	0.0088679	1371	154602	rs74869671	0.0010	0.0014	0.0008	0.0013	0.0086	0.0010	0.0010	0.0081	0.0079	0.0006	0.0006	0.0018	0.0006	3.744e-05	0.0059	0.0004	0.0019	0.0086	0.0012	0.0013	0.0011	0.0014	0.0110	0.0011	0.0010	0.0087	0.0078	0.0013	0	0.0005	0.0029	0.0014	9.455e-05	0.0034	0.0008	0.0019	0.0110	0.385	0.11015	T	0.645	0.06859	T	.	.	.	.	.	.	0.002721	0.00911	N	3.662820	1	0.08975	N	.	.	.	5.84	0.00647	T	-5.13	0.83224	D	0.057	0.02861	-0.8940	0.48577	T	0.003	0.00800	T	10	0.0052117705	0.00113	T	.	.	.	0.035	0.08770	.	.	.	.	0.26885178188785624	0.26798	0.0924982757339	0.10440	0.253600180149	0.04156	T	.	.	.	-0.642135	0.00081	T	-0.687482	0.06536	T	0.007240401794773	0.00083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13032	B	.	.	-0.226984	0.02955	0.437	0.7812703322597675	0.12167	0.01829	0.05679	N	AEFDBCI	0.046476	0.07723	N	-1.48778855808194	0.01936	0.08496868	-1.57917659399801	0.01783	0.08113881	1.32457840937303E-4	0.05486	0.428477	0.06694	0	0.187218	0.04217	2	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.4	-1.74	0.07622	-1.680000	0.02040	.	.	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.4319:0.0:0.22:0.3481	3.082	0.05887	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	7080.98	479	chr19	54336873	.	T	A	7080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.10;DP=7757;ExcessHet=0.0000;FS=0.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.70;MQRankSum=0.356;QD=14.78;ReadPosRankSum=1.38;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,191:479:99:0|1:54336873_T_A:7095,0,11421:54336873	20	0	1	0
chr19	54336874	54336874	G	A	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.C1222T:p.H408Y,	.	.	1	1509	11	0	1	12	0.00363156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.01	B	0.004	B	0.003	N	1.000	N	2.54	M	5.78	T	-0.804	T	0.005	T	0.115	0.452	6.455	0.177	0.109	-1.057	4.409	0.033	.	.	0.0147764	0.0105	0.0428	0.0058	0.0007	0.0030	0.0070	0.0165	0.0156	0.0088421	1367	154602	rs75547479	0.0010	0.0014	0.0008	0.0013	0.0086	0.0010	0.0010	0.0081	0.0079	0.0007	0.0006	0.0018	0.0006	3.744e-05	0.0059	0.0004	0.0019	0.0086	0.0012	0.0013	0.0011	0.0014	0.0110	0.0011	0.0010	0.0086	0.0078	0.0013	0	0.0005	0.0029	0.0014	9.411e-05	0.0034	0.0007	0.0019	0.0110	0.288	0.15098	T	0.744	0.04912	T	.	.	.	.	.	.	0.002721	0.00911	N	3.662820	1	0.08975	N	.	.	.	5.78	0.00681	T	-2.86	0.60188	D	0.088	0.06587	-0.8042	0.54897	T	0.005	0.01615	T	10	0.005057603	0.00109	T	.	.	.	0.033	0.08068	.	.	.	.	0.11517658060421956	0.11445	0.0880693252192	0.09946	0.270498722792	0.06206	T	.	.	.	-0.638259	0.00085	T	-0.681773	0.06876	T	0.00814308446363215	0.00097	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10159	B	.	.	0.450209	0.08202	4.940	0.80816851736566708	0.13383	0.02339	0.06686	N	AEFDBCI	0.046476	0.07723	N	-0.966026026559659	0.09336	0.441451	-1.10796583407816	0.07547	0.3675224	8.20931551209457E-5	0.04703	0.428477	0.06694	0	0.187218	0.04217	2	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.4	0.177	0.14338	-0.391000	0.07383	.	.	-0.110000	0.15115	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3496:0.0:0.6504:0.0	4.409	0.10852	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	7080.98	479	chr19	54336874	.	G	A	7080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.17;DP=7755;ExcessHet=0.0000;FS=0.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.68;MQRankSum=0.356;QD=14.78;ReadPosRankSum=0.895;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,191:479:99:0|1:54336873_T_A:7095,0,11421:54336873	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|1:244,93,0:337:99:0|1:54633108_T_G:3171,0,9769,3905,10049,13954:54633108	1	0	19	0
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.105	N	1.98	T	-1.002	T	0.021	T	0.246	-0.452	1.906	-0.528	0.045	0.507	3.540	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:322,0,70:392:99:0|1:54775315_G_T:1970,2939,16433,0,13493,13283:54775315	14	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:322,0,70:392:99:0|1:54775315_G_T:1970,2939,16433,0,13493,13283:54775315	14	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.375	B	0.035	B	.	.	1.000	N	1.405	L	1.96	T	-1.032	T	0.034	T	0.215	0.284	5.538	-0.175	0.019	-1.768	4.925	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:322,0,70:392:99:0|1:54775315_G_T:1970,2939,16433,0,13493,13283:54775315	14	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:322,0,70:392:99:0|1:54775315_G_T:1970,2939,16433,0,13493,13283:54775315	14	0	1	0
chr19	55165795	55165795	A	C	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256716:exon3:c.T53G:p.I18S,	Ciliary dyskinesia, primary, 2, Autosomal recessive	.	0	1494	26	2	0	30	0.00994036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.159	B	0.018	B	.	.	1.000	N	.	.	2.3	T	-0.954	T	0.016	T	0.074	1.623	11.38	0.442	0.110	-0.616	6.101	0.014	.	.	0.000199681	0.0024	0	0	0	0	0.0033	0.0104	0.0023	0.0006404	99	154602	rs537635826	0.0006	0.0006	0.0005	0.0007	0.0044	0.0006	0.0005	0.0030	0.0026	6.182e-05	0.0005	0.0020	0	2.046e-05	0.0044	0.0005	0.0012	0.0022	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	4.824e-05	0	0.0010	0.0020	0	0	0.0068	0.0007	0.0005	0.0008	0.011	0.55530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.3	0.16953	T	0.4	0.03463	N	0.202	0.22357	-0.9537	0.40327	T	0.016	0.06425	T	8	0.00550279	0.00121	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.674487	0.00052	T	-0.748106	0.03560	T	0.012129488222065	0.00193	T	0.361964	0.08365	T	.	.	.	.	.	.	.	.	-1.348	0.01480	T	.	.	0.134	0.29060	B	.	.	0.599689	0.09679	6.452	0.95362320973247905	0.26763	0.06154	0.12135	N	AEFGBCI	0.088806	0.18002	N	-1.02745366790125	0.08037	0.3754451	-1.10485010075216	0.07607	0.3706807	0.999224403668781	0.38808	0.516011	0.20929	0	0.563428	0.19063	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.4	0.442	0.15794	-0.566000	0.06013	-1.184000	0.06088	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.6684:0.3316:0.0:0.0	6.101	0.19268	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1113.98	81	chr19	55165795	.	A	C	1113.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.624e+00;DP=788;ExcessHet=0.0000;FS=1.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=0.118;SOR=0.929	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1128,0,1157	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	1/1:0,99,0:99:99:.:.:4365,307,0,4365,307,4365	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	1/1:0,99,0:99:99:.:.:4365,307,0,4365,307,4365	0	18	2	0
chr19	55359687	55359687	G	A	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.C1181T:p.P394L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.0	B	.	.	1.000	N	0	N	2.87	T	-0.963	T	0.012	T	0.056	-0.840	0.573	-5.13	-5.332	-1.798	2.850	0.020	0.00613095092871	.	0.000199681	0.0002	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs557543646	2.358e-05	2.326e-05	1.833e-05	2.898e-05	0.0004	1.682e-05	1.48e-05	6.169e-05	2.55e-05	3.165e-05	0.0001	0	0	0	0.0004	1.854e-05	0	7.573e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-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	0.154	0.24277	T	0.118	0.36233	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.87	0.10386	T	-1.03	0.27052	N	0.051	0.02272	-0.9632	0.38567	T	0.012	0.04558	T	9	0.022868007	0.00582	T	0.006131	0.16052	T	0.020	0.03691	0.28	0.23483	0.0138822411134	0.00435	0.029738149563514667	0.02922	.	.	0.226120740175	0.01693	T	0.001209	0.00701	T	-0.622508	0.00106	T	-0.835774	0.01164	T	0.00850639468178168	0.00103	T	0.394461	0.09873	T	0.01983717	0.00524	0.0322565	0.01933	0.01983717	0.00523	0.0322565	0.01933	-3.553	0.17182	T	.	.	0.079	0.07224	B	.	.	-1.912235	0.00123	0.002	0.8249031070524202	0.14219	0.01733	0.05477	N	AEFDGBC	0.034052	0.04151	N	-2.28132974093295	0.00050	0.002152682	-2.38526277872453	0.00042	0.001864407	0.9999994339754	0.74766	0.517182	0.21443	0	0.626922	0.53725	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.56	-5.13	0.02665	-1.809000	0.01826	-5.451000	0.01713	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.291:0.0868:0.4902:0.132	2.850	0.05213	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	1115.98	79	chr19	55359687	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=909;ExcessHet=0.0000;FS=0.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-1.071e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1130,0,879	20	0	1	0
chr19	56222221	56222221	G	A	exonic	ZSCAN5A	.	nonsynonymous SNV	ZSCAN5A:NM_001322077:exon5:c.C494T:p.S165L	.	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.029	B	0.003	B	.	.	1.000	N	1.555	L	3.36	T	-0.965	T	0.014	T	0.038	-0.437	1.968	-3.38	-0.961	-0.277	3.435	0.017	0.000987357988313	.	.	0.0024	0.0070	0.0007	0.0012	0.0002	0.0015	0	0.0063	0.0001164	18	154602	rs146091512	0.0011	0.0013	0.0010	0.0013	0.0071	0.0011	0.0011	0.0066	0.0065	0.0007	0.0006	0.0116	0.0019	0.0005	0.0035	0.0004	0.0018	0.0071	0.0011	0.0014	0.0010	0.0011	0.0048	0.0009	0.0009	0.0033	0.0028	0.0009	0	0.0006	0.0104	0.0010	0.0007	0.0068	0.0006	0.0019	0.0048	0.187	0.21385	T	0.23	0.25135	T	0.029	0.19866	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.43	0.35840	L	3.36	0.09635	T	-1.94	0.45042	N	0.038	0.16028	-0.9645	0.38310	T	0.014	0.05608	T	9	0.007154286	0.00163	T	9.87E-4	0.01050	T	0.017	0.02790	.	.	0.130388298395	0.12655	0.12724300887959056	0.12650	0.0585099463108	0.06489	0.263565391302	0.05322	T	0.016764	0.45325	T	-0.740293	0.00021	T	-0.833405	0.01203	T	0.000779366579697761	0.00007	T	0.671133	0.29211	T	0.047343127	0.08078	0.047482938	0.06847	0.047343127	0.08078	0.047482938	0.06847	-3.731	0.19776	T	.	.	0.168	0.41918	B	.;.;.;.;.	.;.;.;.;.	0.504653	0.08736	5.511	0.51735068036967002	0.04617	0.01589	0.05168	N	AEFBI	0.039664	0.05794	N	-1.31309409080676	0.03524	0.1575841	-1.47507454624181	0.02550	0.1174874	9.06666100771661E-5	0.04703	0.615465	0.37627	0	0.653731	0.59785	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	1.69	-3.38	0.04577	-1.008000	0.03774	.	.	-0.300000	0.06199	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3887:0.0:0.4311:0.1802	3.435	0.07012	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4936.11	209	chr19	56222221	.	G	A	4936.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.06;DP=1186;ExcessHet=0.1072;FS=3.232;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.83;MQRankSum=-6.031e+00;QD=11.40;ReadPosRankSum=0.165;SOR=0.577	GT:AD:DP:GQ:PL	0/1:103,106:209:99:2707,0,2495	19	0	2	0
chr19	56554760	56554760	C	T	exonic	ZFP28	.	nonsynonymous SNV	ZFP28:NM_020828:exon8:c.C1975T:p.H659Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.856	P	0.267	B	0.000	D	0.999	D	0.915	L	2.62	T	-1.011	T	0.025	T	0.269	1.183	9.811	3.91	2.182	-1.550	15.211	0.091	0.00621636278789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.05	0.48080	T	0.856	0.47190	P	0.267	0.39770	B	0.000172	0.48594	D	0.000000	0.980878	0.25080	N	-0.22	0.03977	N	2.62	0.12988	T	-3.97	0.73684	D	0.302	0.34120	-1.0112	0.26541	T	0.025	0.10733	T	10	0.17004338	0.31645	T	0.006216	0.16288	T	0.091	0.26358	0.329	0.31357	0.31411915649	0.31020	0.10611165945840229	0.10541	0.781083233994	0.65296	0.65424311161	0.60589	T	0.121966	0.44530	T	-0.270828	0.11665	T	-0.626802	0.10658	T	0.74490213394165	0.43004	D	0.126087	0.00984	T	0.38052243	0.59354	0.38866806	0.63705	0.38052243	0.59355	0.38866806	0.63705	-6.604	0.51084	T	.	.	0.679	0.72091	P	.	.	3.477999	0.48558	22.6	0.99156667503702389	0.53987	0.21605	0.21460	N	AEFBHCI	0.091304	0.18496	N	-0.236156843021036	0.31660	1.777493	-0.237807405424209	0.30194	1.697937	0.00314450442554377	0.09954	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.91	3.91	0.44383	-1.460000	0.02474	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:1.0:0.0:0.0	15.211	0.72910	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1095.98	68	chr19	56554760	.	C	T	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=1197;ExcessHet=0.0000;FS=8.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.12;ReadPosRankSum=1.58;SOR=0.872	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1110,0,795	20	0	1	0
chr19	58339201	58339201	C	T	exonic	ZSCAN22	.	nonsynonymous SNV	ZSCAN22:NM_001321116:exon3:c.C1351T:p.L451F	.	.	408	1093	18	3	0	24	0.0108597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	.	.	0.999	N	1.93	M	0.68	T	-0.924	T	0.228	T	0.43	2.164	13.19	1.86	0.450	0.444	7.101	0.168	.	0.0005	0.00459265	0.0027	0.0002	0.0007	0.0001	0	0.0007	0.0033	0.0161	0.0023738	367	154602	rs145683189	0.0014	0.0014	0.0009	0.0019	0.0174	0.0014	0.0013	0.0166	0.0164	5.974e-05	0.0007	0.0007	2.519e-05	1.872e-05	0.0050	0.0004	0.0015	0.0174	0.0010	0.0010	0.0007	0.0013	0.0145	0.0009	0.0008	0.0118	0.0108	9.643e-05	0	0.0016	0.0009	0.0002	0	0	0.0007	0.0009	0.0145	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	0.99858	0.22057	N	1.96	0.53105	M	0.68	0.51952	T	-3.17	0.64363	D	0.198	0.21839	-0.9245	0.44929	T	0.228	0.59359	T	9	0.004916042	0.00105	T	.	.	.	0.168	0.42943	.	.	0.477762074677	0.47404	0.11406229735062097	0.11334	0.55065850351	0.51926	0.579807937145	0.50059	T	0.256268	0.62715	T	-0.410054	0.01986	T	-0.348165	0.39416	T	0.037850638319369	0.03306	T	0.867613	0.56877	D	0.2457872	0.47541	0.31070474	0.57080	0.2457872	0.47541	0.31070474	0.57080	-7.615	0.58415	D	.	.	0.736	0.74447	P	.	.	3.500919	0.48979	22.7	0.99769058846002001	0.85750	0.15504	0.18944	N	AEFDGBHCI	0.029589	0.02822	N	-0.0964564221837833	0.37548	2.186043	-0.315747428431318	0.27590	1.532011	0.180240784314584	0.17861	0.460665	0.09802	0	0.577304	0.33150	0	0.505578	0.09266	0	0.491896	0.07777	0	.	.	4.06	1.86	0.24489	0.853000	0.27431	0.679000	0.20664	0.524000	0.24156	0.010000	0.18352	0.878000	0.27671	0.883000	0.42306	0.0:0.7241:0.1754:0.1005	7.101	0.24512	958	0.09170	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	2769.98	211	chr19	58339201	.	C	T	2769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1011;ExcessHet=0.0000;FS=1.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-4.920e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/1:107,104:211:99:2784,0,2816	20	0	1	0
chr20	297779	297779	G	A	exonic	ZCCHC3	.	nonsynonymous SNV	ZCCHC3:NM_033089:exon1:c.G193A:p.E65K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.023	B	0.01	B	0.028	N	0.998	N	0.345	N	.	.	-1.040	T	0.057	T	0.202	1.936	12.43	2.98	0.963	3.247	6.724	0.062	0.728242851709	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388464402	3.286e-06	6.84e-06	1.608e-06	5.038e-06	3.678e-05	7.7e-07	5.2e-07	8.1e-07	2.2e-07	0	0	0	3.678e-05	0	0	3.032e-06	0	0	6.615e-06	6.574e-06	0	1.354e-05	2.424e-05	0	0	.	.	2.424e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.318	0.19246	T	0.023	0.18885	B	0.01	0.14941	B	0.028423	0.25603	N	0.259107	0.997828	0.22489	N	0	0.06538	N	.	.	.	.	.	.	0.19	0.20793	-1.0398	0.17374	T	0.057	0.23866	T	9	0.1018818	0.18640	T	0.728243	0.97810	D	.	.	0.159	0.06287	0.350524144436	0.34660	0.21459699081414163	0.21375	.	.	0.865006923676	0.91847	D	0.017481	0.14257	T	-0.0426791	0.45550	T	-0.299082	0.44821	T	0.139663994179802	0.16246	T	0.562444	0.19755	T	0.07380251	0.16517	0.16594154	0.38363	0.07380251	0.16517	0.16594154	0.38362	-4.773	0.34275	T	.	.	0.131	0.28174	B	.	.	2.670294	0.34811	19.73	0.98868868700685797	0.47615	0.53887	0.29481	D	AEFDBHCI	0.056830	0.10537	N	-0.561835070332382	0.20113	1.057972	-0.494233203295716	0.22311	1.211254	0.99999990254477	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.621717	0.48901	0	.	.	3.96	2.98	0.33575	0.840000	0.27253	5.045000	0.46946	0.560000	0.28382	0.125000	0.23262	1.000000	0.68203	0.861000	0.40843	0.2213:0.0:0.7787:0.0	6.724	0.22533	958	0.09170	.	.	.	.	.	.	Uncertain significance	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	589.98	58	chr20	297779	.	G	A	589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.287;DP=748;ExcessHet=0.0000;FS=2.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.399;SOR=0.670	GT:AD:DP:GQ:PL	0/1:32,26:58:99:604,0,791	20	0	1	0
chr20	890238	890238	C	T	exonic	ANGPT4	.	nonsynonymous SNV	ANGPT4:NM_001322809:exon2:c.G440A:p.R147H	.	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.004	B	0.001	B	0.508	N	0.989	N	1.495	L	2.52	T	-1.004	T	0.019	T	0.14	2.293	13.63	-0.068	-0.157	0.731	4.164	0.028	0.0046933208689	0.0035	0.00179712	0.0039	0.0010	0.0022	0	0.0083	0.0051	0.0055	0.0018	0.0037645	582	154602	rs150123876	0.0039	0.0039	0.0039	0.0039	0.0043	0.0038	0.0038	0.0042	0.0042	0.0010	0.0015	0.0014	0	0.0071	0.0009	0.0043	0.0033	0.0019	0.0033	0.0033	0.0033	0.0033	0.0050	0.0031	0.0030	0.0045	0.0043	0.0008	0.0088	0.0010	0.0012	0	0.0092	0	0.0050	0.0019	0.0012	0.087	0.32453	T	0.06	0.45744	T	0.001	0.07471	B	0.001	0.04355	B	0.507830	0.11877	N	0.687022	0.989188	0.24326	N	1.53	0.38800	L	2.52	0.14160	T	-3.11	0.63669	D	0.227	0.25499	-1.0040	0.28755	T	0.019	0.07800	T	10	0.007361084	0.00167	T	0.004693	0.11660	T	0.028	0.06331	.	.	0.502379540653	0.49875	0.18195855122437854	0.18114	0.242897988104	0.26791	0.206814706326	0.00683	T	0.199505	0.55681	T	-0.645034	0.00078	T	-0.69837	0.05915	T	0.0272338638082341	0.01577	T	0.771723	0.40231	T	0.045715835	0.07531	0.05397161	0.09194	0.045715835	0.07531	0.05397161	0.09193	-3.201	0.12493	T	.	.	0.069	0.03231	B	.	.	1.179290	0.15696	12.04	0.98657037356455746	0.44275	0.27886	0.23402	N	AEFDBI	0.144143	0.26703	N	-0.63184639778766	0.17992	0.9305961	-0.60301050671422	0.19415	1.041567	0.86135284929584	0.25232	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.38	-0.0683	0.13089	0.994000	0.29294	-1.587000	0.05113	-0.841000	0.02792	0.278000	0.25122	0.000000	0.08366	0.209000	0.22154	0.321:0.4974:0.0:0.1817	4.164	0.09760	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	523.98	77	chr20	890238	.	C	T	523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=798;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=2.79;SOR=0.578	GT:AD:DP:GQ:PL	0/1:51,26:77:99:538,0,1232	20	0	1	0
chr20	1305875	1305875	G	A	exonic	SNPH	.	nonsynonymous SNV	SNPH:NM_014723:exon6:c.G1306A:p.A436T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.936	P	0.553	P	0.006	N	0.958	N	0.69	N	.	.	-1.054	T	0.074	T	0.497	3.486	17.83	4.24	2.187	2.831	10.177	0.071	0.0149621117722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.035	0.52727	D	0.936	0.52359	P	0.553	0.49313	P	0.005681	0.32605	N	0.249633	0.95791	0.26243	N	1.355	0.33814	L	.	.	.	-0.68	0.21860	N	0.421	0.46555	-1.0540	0.13305	T	0.074	0.30023	T	9	0.20192212	0.36292	T	0.014962	0.35409	T	0.071	0.20720	0.335	0.32329	0.176862962021	0.17281	0.4766028885075292	0.47580	1.17185451117	0.79788	0.626488447189	0.56647	T	0.224742	0.58927	T	-0.00788311	0.50561	T	-0.2491	0.49905	T	0.850031077861786	0.50168	D	0.938806	0.78595	D	0.06968594	0.15287	0.093123786	0.21980	0.06968594	0.15286	0.093123786	0.21979	-1.827	0.11446	T	.	.	0.521	0.65506	A	.;.;.;.	.;.;.;.	4.051531	0.60059	24.2	0.99889464162481689	0.96359	0.57092	0.30286	D	AEFBI	0.083325	0.16881	N	0.0678708847187107	0.44968	2.761371	0.0369067633077999	0.41443	2.489898	0.210490655904095	0.18233	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.24	4.24	0.49486	2.563000	0.45585	11.779000	0.96061	0.672000	0.70159	0.223000	0.24568	1.000000	0.68203	0.238000	0.22948	0.0929:0.0:0.9071:0.0	10.177	0.42122	885	0.28214	.;.;.;.	.	.	.	.	.	Uncertain significance	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	763.98	48	chr20	1305875	.	G	A	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=807;ExcessHet=0.0000;FS=2.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.92;ReadPosRankSum=1.59;SOR=0.554	GT:AD:DP:GQ:PL	0/1:21,27:48:99:778,0,532	20	0	1	0
chr20	2432517	2432517	G	C	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon12:c.G1861C:p.G621R	Spinocerebellar ataxia 35, Autosomal dominant	.	4	1470	45	3	0	51	0.0170512	.	.	349763	not_provided|not_specified|Spinocerebellar_ataxia_type_35	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.101	B	0.089	B	0.169	N	1.000	N	1.795	L	-0.19	T	-0.918	T	0.184	T	0.288	0.848	8.426	1.86	0.342	-0.028	6.860	0.033	.	0.0016	0.00139776	0.0032	0.0004	0.0013	0.0001	0.0002	0.0025	0.0011	0.0117	0.0028137	435	154602	rs138807504	0.0019	0.0019	0.0015	0.0023	0.0124	0.0018	0.0018	0.0118	0.0115	0.0002	0.0018	0.0147	2.519e-05	5.616e-05	0.0097	0.0008	0.0034	0.0124	0.0016	0.0016	0.0016	0.0017	0.0099	0.0015	0.0014	0.0077	0.0069	0.0002	0	0.0022	0.0159	0.0002	0	0.0068	0.0014	0.0047	0.0099	0.017	0.51248	D	0.166	0.30828	T	0.101	0.25775	B	0.089	0.29769	B	0.169227	0.17425	N	0.634407	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-2.66	0.56945	D	0.107	0.09207	-0.9185	0.45756	T	0.184	0.53300	T	10	0.0043498874	0.00088	T	.	.	.	0.033	0.08068	0.346	0.34112	0.327686398923	0.32377	0.2536032118238763	0.25274	0.108388790355	0.12225	0.329630196095	0.14878	T	0.028211	0.20489	T	-0.297241	0.08923	T	-0.189354	0.55651	T	0.0096409445773623	0.00125	T	0.587141	0.21465	T	0.2186705	0.44381	0.16745007	0.38630	0.1864944	0.40060	0.14031756	0.33450	-3.88	0.22002	T	0.09196841842984388	0.05891	0.146	0.32178	B	.	.	0.885631	0.12589	9.117	0.82264938501959017	0.14103	0.10581	0.16048	N	AEFBI	0.094015	0.19016	N	-0.67969589964495	0.16601	0.8472733	-0.664644720180829	0.17848	0.9508148	1.9370839959032E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.87	1.86	0.24489	-0.061000	0.11650	0.546000	0.19377	-0.127000	0.13314	0.004000	0.16614	0.043000	0.21642	0.612000	0.31691	0.2898:0.0:0.7102:0.0	6.860	0.23241	818	0.41518	Transglutaminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2513.11	101	chr20	2432517	.	G	C	2513.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.041e+00;DP=1489;ExcessHet=0.1072;FS=0.509;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.390;SOR=0.766	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1266,0,1248	19	0	2	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:60,33:101:97:97,0,979	5	0	16	0
chr20	9515528	9515528	T	C	exonic	LAMP5	.	nonsynonymous SNV	LAMP5:NM_001199897:exon2:c.T140C:p.I47T	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	0.895	L	1.53	T	-0.743	T	0.235	T	0.902	4.152	21.5	5.65	2.163	7.659	15.888	0.381	0.082153380445	.	.	4.943e-05	0	0	0	0	0	0.0011	0.0003	3.88e-05	6	154602	rs769925728	2.121e-05	2.121e-05	2.178e-05	2.063e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	0	4.472e-05	0	0	0	0	1.799e-06	1.656e-05	0.0003	1.314e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	0.36	0.57880	T	-0.22	0.10480	N	0.821	0.83987	-0.7426	0.58319	T	0.235	0.60197	T	9	0.58488923	0.66054	D	0.082153	0.73838	D	0.381	0.69863	0.491	0.57732	0.486422812247	0.48275	0.6229760813932035	0.62230	0.413707898932	0.42067	0.735642433167	0.72332	T	0.007111	0.06527	T	0.117346	0.66105	D	0.205082	0.83402	D	0.44144176500753	0.30482	T	0.891811	0.63771	D	0.45622498	0.64435	0.51408565	0.71923	0.45622498	0.64435	0.51408565	0.71924	-3.712	0.19496	T	.	.	0.740	0.83396	P	.;.	.;.	4.994749	0.82829	27.9	0.99844514402563656	0.92489	0.95334	0.64316	D	AEFDBCI	0.909118	0.86533	D	0.618946825689038	0.74373	6.121831	0.658928105762914	0.79278	7.04855	0.999999999999825	0.74766	0.59774	0.34471	0	0.587265	0.34161	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	5.65	5.65	0.86881	7.849000	0.85209	7.871000	0.71963	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.888	0.79047	659	0.61982	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	799.98	77	chr20	9515528	.	T	C	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.744e+00;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.926;SOR=0.709	GT:AD:DP:GQ:PL	0/1:42,35:77:99:814,0,1141	20	0	1	0
chr20	20546705	20546705	G	A	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon24:c.C3284T:p.T1095M,	.	.	432	1089	1	0	0	1	0.000458926	0.0172	0.194	2389220	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.169	B	0.061	B	0.000	D	0.503	D	0.345	N	-0.24	T	-0.840	T	0.132	T	0.182	2.493	14.30	3.49	1.318	2.517	6.532	0.023	0.0206204265934	.	.	8.643e-06	0	0	0	0	0	0	7.639e-05	6.5e-06	1	154602	rs777913073	4.366e-05	4.857e-05	4.136e-05	4.598e-05	9.278e-05	3.487e-05	3.169e-05	3.911e-05	3.509e-05	9.278e-05	2.536e-05	0	0	0	0	4.972e-05	1.682e-05	3.634e-05	5.917e-05	5.912e-05	3.856e-05	8.075e-05	0.0001	3.079e-05	2.211e-05	2.847e-05	1.858e-05	4.829e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.068	0.35726	T	0.071	0.43531	T	0.169	0.28678	B	0.06	0.26717	B	0.000360	0.45440	D	0.185581	0.503401	0.31760	D	0	0.06538	N	-0.24	0.66834	T	-0.92	0.24676	N	0.131	0.12627	-0.8401	0.52640	T	0.132	0.44347	T	10	0.08720747	0.14899	T	0.02062	0.43251	T	0.029	0.06676	0.297	0.26202	0.586602809486	0.58333	0.18344970637813449	0.18263	0.0922780189812	0.10416	0.285448908806	0.08264	T	0.027377	0.20061	T	-0.10531	0.35544	T	-0.389047	0.34663	T	0.312209188938141	0.25505	T	0.944206	0.78893	D	0.034291446	0.03819	0.0438666	0.05553	0.034291446	0.03819	0.0438666	0.05553	-6.197	0.47898	T	.	.	0.072	0.04159	B	.	.	3.242790	0.44271	21.9	0.99036309264816025	0.50917	0.72289	0.35388	D	AEFDBHCIJ	0.412306	0.48243	N	-0.17501496370525	0.34176	1.947643	0.00175576504539326	0.39797	2.365147	0.999577354447308	0.40495	0.732398	0.92422	0	0.71359	0.82159	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.6	3.49	0.39065	2.599000	0.45895	1.508000	0.27004	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0942:0.0:0.5573:0.3485	6.532	0.21527	448	0.79501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	620.98	44	chr20	20546705	.	G	A	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=700;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-7.290e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/1:21,23:44:99:635,0,422	20	0	1	0
chr20	33038948	33038948	C	T	exonic	BPIFB6	.	nonsynonymous SNV	BPIFB6:NM_174897:exon9:c.C886T:p.R296C,	.	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.7	P	0.376	B	0.862	N	1.000	N	0.345	N	3.02	T	-0.957	T	0.015	T	0.146	1.334	10.38	-3.18	-0.348	-0.058	8.040	0.100	0.00534922161331	0.0005	0.000199681	0.0006	0.0002	0.0016	0	0	0.0007	0.0044	0.0003	0.0005563	86	154602	rs150580944	0.0004	0.0004	0.0004	0.0004	0.0061	0.0004	0.0004	0.0045	0.0039	0.0001	0.0014	0.0001	2.519e-05	3.744e-05	0.0061	0.0004	0.0010	0.0002	0.0005	0.0005	0.0005	0.0004	0.0018	0.0004	0.0003	0.0012	0.0011	0.0002	0	0.0018	0	0	0	0.0034	0.0005	0.0019	0	0.006	0.61437	D	0.102	0.38450	T	0.7	0.41856	P	0.376	0.43735	B	0.861698	0.08890	N	0.926816	0.999975	0.18612	N	0.345	0.11182	N	3.02	0.08986	T	-1.29	0.32387	N	0.303	0.34228	-0.9566	0.39807	T	0.015	0.05994	T	10	0.021534175	0.00517	T	0.005349	0.13710	T	0.100	0.28662	.	.	0.0954503805726	0.09146	0.2635601517270543	0.26269	0.205693857256	0.22994	0.27710211277	0.07091	T	0.001954	0.01365	T	-0.607013	0.00132	T	-0.685242	0.06668	T	0.0405367354839491	0.03787	T	0.614539	0.23442	T	0.13008273	0.30362	0.07273261	0.15725	0.13008273	0.30362	0.07273261	0.15724	-4.518	0.31123	T	.	.	0.122	0.25429	B	.	.	2.390705	0.30700	18.52	0.97830499804926696	0.36259	0.09271	0.15061	N	AEFDBI	0.142802	0.26533	N	-0.755422559490883	0.14486	0.7220155	-0.831148809343875	0.13741	0.7144963	4.35350766112815E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.48	-3.18	0.04867	-0.184000	0.09693	1.691000	0.28071	-0.112000	0.15009	0.095000	0.22689	1.000000	0.68203	0.006000	0.07323	0.168:0.5274:0.3046:0.0	8.040	0.29677	102	0.95784	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, 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	877.98	105	chr20	33038948	.	C	T	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=859;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=-1.334e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/1:67,38:105:99:892,0,1587	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	0/1:78,60:146:99:358,0,896	2	0	19	0
chr20	35529186	35529186	C	T	exonic	C20orf173	.	nonsynonymous SNV	C20orf173:NM_001145350:exon2:c.G188A:p.C63Y,	.	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.021	B	0.008	B	0.909	N	1.000	N	0.805	L	0.83	T	-1.033	T	0.052	T	0.123	2.124	13.06	-2.99	-0.431	-0.863	5.565	0.060	.	.	0.00179712	0.0005	0	0.0024	0.0109	0	0	0	0.0003	0.0001876	29	154602	rs148026936	0.0007	0.0006	0.0006	0.0007	0.0221	0.0006	0.0006	0.0208	0.0203	0	2.801e-05	0	0.0221	0	0.0005	5.283e-05	0.0006	0.0005	0.0006	0.0006	0.0005	0.0006	0.0137	0.0005	0.0004	0.0111	0.0102	0	0	0.0002	0	0.0137	0	0	0.0001	0	0.0008	0.433	0.11298	T	1.0	0.01155	T	.	.	.	.	.	.	0.908610	0.08569	N	0.951236	1	0.08975	N	.	.	.	0.83	0.47815	T	-4.85	0.81107	D	0.129	0.12341	-1.0334	0.19363	T	0.052	0.21960	T	10	0.005721748	0.00127	T	.	.	.	0.060	0.17295	.	.	0.246773566709	0.24272	0.8124220679945928	0.81198	.	.	.	.	.	.	.	.	-0.639316	0.00084	T	-0.685701	0.06641	T	0.0244201124638839	0.01198	T	0.372463	0.08834	T	.	.	.	.	.	.	.	.	-4.894	0.35667	T	.	.	0.153	0.33846	B	.;.	.;.	-0.403761	0.02198	0.219	0.86052075384027837	0.16282	0.00372	0.01892	N	AEFGI	0.019594	0.00694	N	-1.16935543704458	0.05469	0.2493872	-1.19759994935082	0.05949	0.2849701	7.29202047009072E-4	0.07704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.48	-2.99	0.05164	-0.863000	0.04367	-0.143000	0.11497	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.956000	0.50813	0.0:0.3614:0.1692:0.4694	5.565	0.16449	491	0.76657	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2297.98	164	chr20	35529186	.	C	T	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.448;DP=908;ExcessHet=0.0000;FS=3.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=-1.248e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/1:76,88:164:99:2312,0,1912	20	0	1	0
chr20	42885818	42885818	G	C	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon2:c.C203G:p.A68G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.103	B	0.058	B	0.000	D	1.000	D	0.55	N	4.41	T	-0.682	T	0.008	T	0.599	3.739	18.98	5.76	2.741	7.395	19.611	0.225	0.0249546117373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.875e-07	1.368e-06	1.369e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10180	T	0.384	0.15939	T	0.004	0.25884	B	0.015	0.26451	B	0.000004	0.62929	D	0.061071	0.999999	0.58761	D	0.045	0.08109	N	4.41	0.02196	T	-0.33	0.12472	N	0.418	0.53532	-0.6823	0.61266	T	0.008	0.02842	T	10	0.21221432	0.37673	T	0.024955	0.47943	T	0.225	0.52323	0.473	0.54859	0.223474106383	0.21959	0.47718421895636326	0.47638	1.04296655976	0.75860	0.653668403625	0.60507	T	0.032037	0.22312	T	-0.117498	0.33534	T	-0.406554	0.32622	T	0.712528586387634	0.41324	D	0.680032	0.28847	T	0.16046327	0.35990	0.22903074	0.47963	0.16046327	0.35989	0.22903074	0.47962	-6.873	0.53100	T	0.15890535582642282	0.19285	0.106	0.22171	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.344977	0.46112	22.2	0.99265785752128644	0.57390	0.95137	0.63574	D	AEFCI	0.916767	0.88343	D	0.0312348953504894	0.43280	2.624056	0.255864578791372	0.52984	3.469712	0.999997043830771	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	7.697000	0.83509	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.611	0.95601	694	0.58444	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM 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	760.98	67	chr20	42885818	.	G	C	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.329;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-3.260e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/1:35,32:67:99:775,0,854	20	0	1	0
chr20	43514738	43514763	CCCCGGCGGGAGATGGCGAGGCGGGC	-	exonic	L3MBTL1	.	frameshift deletion	L3MBTL1:NM_001377307:exon1:c.194_219del:p.A67Tfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.794e-05	0	0	0	0	8.277e-05	0	0	3.84e-05	1	26028	rs747623316	7.055e-06	6.84e-06	9.767e-06	4.282e-06	5.294e-05	3.57e-06	2.6e-06	8.77e-06	3.28e-06	3.045e-05	0	0	5.294e-05	0	0	6.426e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1146.94	62	chr20	43514737	.	GCCCCGGCGGGAGATGGCGAGGCGGGC	G	1146.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.50;ReadPosRankSum=0.416;SOR=0.598	GT:AD:DP:GQ:PL	0/1:32,30:62:99:1161,0,1230	20	0	1	0
chr20	45410061	45410061	G	A	exonic	DBNDD2	.	nonsynonymous SNV	DBNDD2:NM_001048225:exon3:c.G407A:p.G136E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.997	D	0.948	D	0.000	D	1.000	D	2.16	M	1.39	T	-0.785	T	0.184	T	0.568	3.644	18.53	3.78	0.772	6.298	10.339	0.261	0.033407182962	.	.	4.742e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs766869038	4.279e-06	6.156e-06	2.815e-06	5.781e-06	5.554e-06	1.54e-06	1.01e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.554e-06	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	0.021	0.67890	D	0.997	0.70673	D	0.948	0.68536	D	0.000000	0.84330	D	0.000000	0.952339	0.58761	D	2.525	0.73725	M	1.39	0.36330	T	-3.9	0.72932	D	0.646	0.72299	-0.7846	0.56042	T	0.184	0.53255	T	10	0.7096874	0.72964	D	0.033407	0.54959	D	0.261	0.57352	0.603	0.73466	0.624195876753	0.62114	0.3179267085164732	0.31705	0.880300693374	0.69745	0.636281132698	0.58036	T	0.118604	0.43955	T	-0.00609395	0.50812	T	-0.24653	0.50159	T	0.980619509620434	0.73455	D	0.79722	0.44094	T	0.63185155	0.74397	0.6101987	0.77326	0.63185155	0.74398	0.6101987	0.77327	-4.16	0.31395	T	.	.	0.250	0.52679	B	.;.;.;.;.;.	.;.;.;.;.;.	4.373158	0.67350	25.1	0.99717662040234878	0.81773	0.92950	0.56948	D	AEFGBI	0.703992	0.65985	D	0.504815059918609	0.67373	5.073131	0.44100855517232	0.64141	4.662642	0.995459596941008	0.34136	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	3.78	0.42629	6.021000	0.70485	11.775000	0.95959	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	0.0:0.146:0.7019:0.152	10.339	0.43047	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	1219.98	97	chr20	45410061	.	G	A	1219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.034;DP=914;ExcessHet=0.0000;FS=6.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.246;SOR=0.314	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1234,0,1478	20	0	1	0
chr20	45905066	45905066	A	G	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon7:c.T473C:p.V158A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.711	P	0.378	B	0.002	N	0.984	D	1.79	L	2.86	T	-1.021	T	0.024	T	0.612	3.030	16.11	4.14	0.810	2.683	4.397	0.222	0.0126150514693	.	.	8.272e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs771423390	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.33091	T	0.364	0.16865	T	0.374	0.35540	B	0.26	0.43788	B	0.001715	0.38216	N	0.258488	0.983509	0.40023	D	1.7	0.43825	L	2.86	0.10482	T	0.4	0.07882	N	0.444	0.49420	-1.0207	0.23486	T	0.024	0.10374	T	10	0.18185669	0.33438	T	0.012615	0.31334	T	0.222	0.51872	.	.	0.0666544352282	0.05500	0.5132361950268223	0.51245	0.475521757077	0.46723	0.501273393631	0.39006	T	0.090821	0.38665	T	-0.0957885	0.37121	T	-0.37537	0.36262	T	0.283458830840346	0.24316	T	0.750125	0.37153	T	0.08051663	0.18453	0.06932325	0.14591	0.08051663	0.18453	0.06932325	0.14591	-4.321	0.28470	T	.	.	0.102	0.18206	B	.;.;.;.;.	.;.;.;.;.	2.942375	0.39128	20.9	0.99507266027073271	0.68381	0.77004	0.37815	D	AEFDBCI	0.273573	0.38895	N	-0.120924922246166	0.36482	2.109356	-0.0264277086207832	0.38525	2.270997	0.999910618459844	0.45857	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	4.14	0.47821	2.861000	0.48079	6.865000	0.56773	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.702:0.0:0.15:0.148	4.397	0.10800	746	0.52331	.;.;Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, 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	1223.98	98	chr20	45905066	.	A	G	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.590e-01;DP=790;ExcessHet=0.0000;FS=0.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.995;SOR=0.593	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1238,0,1239	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	0/1:40,27:67:99:673,0,990	19	0	2	0
chr20	45957596	45957596	G	T	exonic	ZNF335	.	nonsynonymous SNV	ZNF335:NM_022095:exon17:c.C2432A:p.T811K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.066	B	0.022	B	0.006	N	1.000	N	0.695	N	3.22	T	-0.964	T	0.015	T	0.282	2.386	13.94	5.26	2.735	6.159	12.207	0.124	0.00276685252069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.119	0.36101	T	0.039	0.21116	B	0.01	0.14941	B	0.005610	0.32654	N	0.327233	1	0.08975	N	0	0.06538	N	3.22	0.07024	T	0.01	0.06868	N	0.342	0.38335	-0.9643	0.38350	T	0.015	0.05801	T	10	0.1474508	0.27939	T	0.002767	0.05752	T	0.124	0.34239	0.577	0.70217	0.345405024496	0.34151	0.28686134796448826	0.28599	0.196285667944	0.21984	0.445617556572	0.31346	T	0.054606	0.29771	T	-0.203479	0.20304	T	-0.53006	0.19281	T	0.449058651924133	0.30763	T	0.79972	0.44511	T	0.082182504	0.18921	0.11390612	0.27493	0.082182504	0.18920	0.11390612	0.27492	-7.899	0.60380	D	0.09110482883696963	0.05744	0.153	0.33800	B	.	.	3.894942	0.56694	23.8	0.97932905495435785	0.36971	0.89022	0.49244	D	AEFBCI	0.314354	0.41924	N	-0.265560390904939	0.30487	1.700394	-0.0929381036160044	0.35680	2.067217	0.0456941880195742	0.14662	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	4.509000	0.60168	9.884000	0.82221	0.676000	0.76740	0.771000	0.29368	1.000000	0.68203	0.999000	0.91618	0.0:0.185:0.815:0.0	12.207	0.53669	747	0.52260	.	.	.	.	.	.	Uncertain significance	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	271.98	51	chr20	45957596	.	G	T	271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=745;ExcessHet=0.0000;FS=2.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.33;ReadPosRankSum=1.07;SOR=1.255	GT:AD:DP:GQ:PL	0/1:37,14:51:99:286,0,862	20	0	1	0
chr20	49945415	49945415	A	T	exonic	RNF114	.	nonsynonymous SNV	RNF114:NM_018683:exon3:c.A325T:p.T109S,	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.023	B	0.011	B	0.003	N	0.999	N	-0.58	N	-1.29	T	-0.926	T	0.152	T	0.043	0.028	4.162	3.59	1.039	1.240	5.500	0.129	0.0190706329475	0.0014	0.000399361	0.0016	0.0003	0.0011	0	0	0.0026	0.0033	6.058e-05	0.0015718	243	154602	rs143932352	0.0015	0.0015	0.0015	0.0016	0.0021	0.0015	0.0015	0.0014	0.0014	0.0003	0.0013	0.0159	0	7.49e-05	0.0021	0.0014	0.0023	0.0001	0.0016	0.0016	0.0018	0.0015	0.0017	0.0015	0.0014	0.0015	0.0014	0.0004	0.0374	0.0008	0.0170	0	0	0	0.0017	0.0043	0	1.0	0.00964	T	1.0	0.05747	T	0.001	0.07471	B	0.004	0.10090	B	0.003308	0.35125	N	0.343160	0.998829	0.21877	N	-0.535	0.02521	N	-1.29	0.79475	T	0.6	0.02518	N	0.109	0.09490	-0.9263	0.44673	T	0.152	0.48101	T	10	0.008870244	0.00201	T	0.019071	0.41331	T	0.129	0.35316	0.317	0.29419	0.657258635172	0.65439	0.2482232680190612	0.24736	0.441933971099	0.44173	0.342596024275	0.16826	T	0.004545	0.03948	T	-0.513733	0.00478	T	-0.516266	0.20673	T	0.00221466629232761	0.00023	T	0.622038	0.27137	T	0.021568052	0.00766	0.027558714	0.00918	0.021568052	0.00766	0.027558714	0.00918	-2.585	0.06390	T	.	.	0.070	0.05845	B	.;.;.	.;.;.	1.238487	0.16341	12.48	0.28225956273214214	0.01439	0.75436	0.36935	D	AEFDBI	0.303439	0.41142	N	-0.630159536763214	0.18043	0.933555	-0.372302531762122	0.25825	1.422681	0.996453256334516	0.34757	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	3.59	0.40253	1.102000	0.30662	4.037000	0.41390	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.5885:0.0:0.0816:0.3299	5.500	0.16112	969	0.06854	Zinc finger C2HC RNF-type;Zinc finger C2HC RNF-type;Zinc finger C2HC RNF-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1175.98	69	chr20	49945415	.	A	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1140;ExcessHet=0.0000;FS=3.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.04;ReadPosRankSum=1.09;SOR=1.127	GT:AD:DP:GQ:PL	0/1:29,40:69:99:1190,0,728	20	0	1	0
chr20	53581599	53581599	T	C	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon2:c.A1228G:p.M410V	.	.	432	1009	76	5	0	86	0.0408745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.004	B	0.593	N	1.000	N	1.1	L	3.16	T	-0.953	T	0.013	T	0.063	-0.881	0.479	-0.223	-0.156	-0.286	4.776	0.014	.	0.0040	0.0131789	0.0112	0.0007	0.0050	0.0001	0.0044	0.0068	0.0166	0.0479	0.0100969	1561	154602	rs6068589	0.0080	0.0080	0.0066	0.0095	0.0474	0.0079	0.0078	0.0462	0.0457	0.0008	0.0044	0.0037	0.0001	0.0034	0.0350	0.0058	0.0079	0.0474	0.0056	0.0057	0.0051	0.0062	0.0436	0.0053	0.0052	0.0387	0.0369	0.0009	0	0.0040	0.0035	0.0002	0.0032	0.0238	0.0071	0.0066	0.0436	1.0	0.00964	T	0.373	0.16328	T	0.005	0.12996	B	0.004	0.10090	B	0.593015	0.05603	N	1.230860	1	0.08975	N	0.365	0.12025	N	3.16	0.07711	T	-0.44	0.14588	N	0.009	0.00252	-0.9525	0.40538	T	0.013	0.05225	T	10	0.0018404424	0.00025	T	.	.	.	0.014	0.01968	.	.	.	.	0.10227051858658619	0.10157	0.22842857525	0.25396	0.300081849098	0.10412	T	0.067626	0.33250	T	-0.707244	0.00033	T	-0.753646	0.03346	T	0.00367050087191358	0.00039	T	0.476852	0.14330	T	0.109267846	0.25833	0.07645901	0.16935	0.109267846	0.25833	0.07645901	0.16935	-2.293	0.04517	T	.	.	0.061	0.01092	B	.;.	.;.	-0.380819	0.02285	0.239	0.41343242720419293	0.02976	0.20278	0.20981	N	AEFDBHCI	0.079442	0.16045	N	-0.912887780753247	0.10540	0.5041327	-0.941171445694149	0.11128	0.5650487	0.999992307601255	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.97	-0.223	0.12472	-0.173000	0.09844	-0.621000	0.08173	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.324000	0.25064	0.2377:0.1261:0.0:0.6362	4.776	0.12551	991	0.01385	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2385.11	111	chr20	53581599	.	T	C	2385.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.65;DP=880;ExcessHet=0.1072;FS=1.045;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.514;SOR=0.592	GT:AD:DP:GQ:PL	0/1:68,43:111:99:1099,0,1686	19	0	2	0
chr20	59577582	59577582	G	A	exonic	PHACTR3	.	nonsynonymous SNV	PHACTR3:NM_001199505:exon1:c.G74A:p.R25Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.001	B	0.0	B	.	.	1.000	N	0	N	1.92	T	-0.986	T	0.006	T	0.086	0.749	7.973	-3.51	-0.323	-0.229	4.524	0.016	.	.	0.00479233	0	.	.	.	.	.	.	.	0.0014215	37	26028	rs140857038	0.0004	0.0003	0.0004	0.0003	0.0150	0.0004	0.0003	0.0137	0.0132	0.0150	0.0004	0	8.116e-05	0	0.0004	1.547e-05	0.0014	0	0.0045	0.0045	0.0047	0.0044	0.0159	0.0043	0.0042	0.0149	0.0145	0.0159	0	0.0011	0	0	0	0	4.424e-05	0.0033	0.0002	0.624	0.05245	T	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.92	0.23082	T	0.28	0.04233	N	0.073	0.04668	-0.9857	0.33663	T	0.006	0.02018	T	9	0.005931139	0.00133	T	.	.	.	0.016	0.02506	.	.	0.174091166621	0.17034	.	.	.	.	.	.	.	.	.	.	-0.690346	0.00042	T	-0.752086	0.03405	T	0.0614775856086693	0.07400	T	0.523548	0.17131	T	.	.	.	.	.	.	.	.	-5.375	0.40678	T	.	.	0.321	0.54551	B	.	.	0.679253	0.10477	7.194	0.98192253992808298	0.39045	0.00075	0.00520	N	AEFDBI	0.014725	0.00247	N	-1.24686562761538	0.04341	0.1957339	-1.2880131695299	0.04592	0.2169523	0.0146497909676114	0.12621	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	3.16	-3.51	0.04397	-0.839000	0.04475	0.400000	0.17989	-0.446000	0.05156	0.000000	0.06391	0.932000	0.28569	0.200000	0.21896	0.5794:0.1909:0.2297:0.0	4.524	0.11378	983	0.02875	.	.	.	.	.	.	Uncertain significance	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	183.99	14	chr20	59577582	.	G	A	183.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=344;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-4.500e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:5,9:14:89:198,0,89	20	0	1	0
chr20	62320750	62320750	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon49:c.G6637A:p.A2213T,	.	.	412	1108	2	0	0	2	0.000901713	.	.	742504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.5	T	0.004	B	0.005	B	0.147	N	1.000	N	0.205	N	2.92	T	-0.970	T	0.005	T	0.006	0.088	4.475	-3.05	-1.069	-1.994	3.668	0.015	.	0.0080	0.00678914	0.0025	0.0264	0.0014	0	0	0.0003	0.0012	6.072e-05	0.0023286	360	154602	rs140781444	0.0009	0.0009	0.0010	0.0008	0.0257	0.0009	0.0009	0.0243	0.0237	0.0257	0.0018	0.0019	0	5.762e-05	0.0019	0.0002	0.0017	6.957e-05	0.0074	0.0074	0.0077	0.0070	0.0252	0.0070	0.0069	0.0239	0.0234	0.0252	0	0.0029	0.0014	0	0	0	0.0003	0.0047	0	0.405	0.10311	T	0.532	0.10034	T	0.004	0.12183	B	0.005	0.11217	B	0.146776	0.18102	N	0.565431	1	0.08975	N	0.85	0.21244	L	2.92	0.09915	T	-0.26	0.11185	N	0.067	0.03956	-0.9699	0.37220	T	0.005	0.01833	T	10	0.003423959	0.00060	T	.	.	.	0.015	0.02232	.	.	0.218628672733	0.21463	0.14020359042266417	0.13943	.	.	0.529904067516	0.43020	T	0.010963	0.09843	T	-0.772482	0.00012	T	-0.862121	0.00820	T	0.0110116440882696	0.00159	T	0.266473	0.04381	T	0.014592072	0.00100	0.035072092	0.02690	0.014592072	0.00100	0.035072092	0.02689	-4.698	0.33380	T	.	.	0.067	0.02428	B	.	.	-0.893332	0.00937	0.036	0.89539445306653931	0.18884	0.07474	0.13490	N	AEFDGBHCI	0.073646	0.14737	N	-1.67956767784339	0.00917	0.0396919	-1.70397439758758	0.01120	0.0503426	0.999869259735109	0.44398	0.706548	0.73137	0	0.626922	0.53725	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.23	-3.05	0.05069	-1.662000	0.02072	-3.608000	0.02661	-1.822000	0.00600	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.0873:0.4451:0.1366:0.3311	3.668	0.07798	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	915.98	77	chr20	62320750	.	C	T	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=859;ExcessHet=0.0000;FS=0.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-6.580e-01;SOR=0.859	GT:AD:DP:GQ:PL	0/1:40,37:77:99:930,0,970	20	0	1	0
chr20	62330940	62330940	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon30:c.G3655A:p.A1219T,	.	.	414	1106	2	0	0	2	0.000903342	.	.	742513	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.07	B	0.003	B	0.000	N	1.000	D	0.55	N	2.2	T	-1.013	T	0.013	T	0.068	1.007	9.114	1.4	0.420	0.665	6.773	0.042	.	0.0069	0.00698882	0.0041	0.0323	0.0026	0	0	0	0.0057	0	0.0013777	213	154602	rs200702801	0.0007	0.0007	0.0008	0.0006	0.0246	0.0007	0.0007	0.0232	0.0226	0.0246	0.0018	3.981e-05	0	2.088e-05	0.0011	3.795e-05	0.0014	6.271e-05	0.0069	0.0070	0.0072	0.0067	0.0240	0.0066	0.0065	0.0228	0.0223	0.0240	0	0.0028	0	0.0004	0	0	7.365e-05	0.0043	0	0.532	0.06980	T	0.317	0.19304	T	0.07	0.23866	B	0.003	0.08700	B	0.000115	0.50451	N	0.179242	0.92791	0.27133	N	0.14	0.08730	N	2.2	0.18570	T	-0.32	0.12283	N	0.047	0.01911	-1.0132	0.25912	T	0.013	0.04843	T	10	0.004822552	0.00102	T	.	.	.	0.042	0.11227	.	.	0.196089822672	0.19227	0.260428081419754	0.25955	.	.	0.472050100565	0.34962	T	0.01664	0.13717	T	-0.672173	0.00053	T	-0.718709	0.04859	T	0.0102891883505343	0.00140	T	0.753825	0.37593	T	0.035774954	0.04276	0.05216497	0.08539	0.035774954	0.04276	0.05216497	0.08539	-3.429	0.15449	T	.	.	0.071	0.03773	B	.	.	1.879065	0.23871	16.18	0.97369410935327549	0.33612	0.39076	0.26131	N	AEFDBHCIJ	0.194607	0.32168	N	-0.895023214175446	0.10960	0.526417	-0.866613837527703	0.12888	0.6656088	0.907376724995439	0.26257	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.87	1.4	0.21393	0.466000	0.21731	-3.081000	0.03078	0.594000	0.32500	0.056000	0.21631	0.000000	0.08366	0.632000	0.32210	0.5879:0.3134:0.0:0.0988	6.773	0.22793	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1035.98	97	chr20	62330940	.	C	T	1035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=1478;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.870;SOR=0.757	GT:AD:DP:GQ:PL	0/1:55,42:97:99:1050,0,1365	20	0	1	0
chr20	62754887	62754887	G	A	splicing	NTSR1	NM_002531:exon2:c.916+1G>A	.	.	.	.	406	1115	1	0	0	1	0.000448229	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.057	12.83	4.01	1.940	8.163	16.474	.	.	.	.	5.14e-05	0.0001	0.0005	0	0	0	0	0	3.23e-05	5	154602	rs764083183	1.18e-05	1.505e-05	1.38e-05	9.775e-06	0.0005	7.19e-06	5.88e-06	0.0001	7.578e-05	5.998e-05	0.0002	0	0	0	0.0005	1.808e-06	1.669e-05	1.17e-05	3.945e-05	3.94e-05	2.571e-05	5.386e-05	0.0001	1.716e-05	1.13e-05	6.292e-05	4.305e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0607394	0.42791	T	-0.0348814	0.68043	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.617277	0.92576	32	0.98405169991674291	0.41116	0.93328	0.57923	D	AEFDGBCI	.	.	.	0.873776996253186	0.90418	10.39465	0.637810802297052	0.77708	6.731207	0.999999972392244	0.74766	0.080785	0.02172	0	0.059962	0.00310	0	0.060301	0.00762	0	0.10565	0.03146	0	0.868403	0.53573	4.01	4.01	0.45821	8.250000	0.89774	11.428000	0.92732	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:0.0:1.0:0.0	16.474	0.83969	856	0.34373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	520.98	51	chr20	62754887	.	G	A	520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=777;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=0.483;SOR=1.071	GT:AD:DP:GQ:PL	0/1:33,18:51:99:535,0,951	20	0	1	0
chr20	62813162	62813222	GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA	0	exonic	OGFR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	680.03	55	chr20	62813162	.	GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA	G,*	680.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.204e+00;DP=889;ExcessHet=0.1072;FS=2.557;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.30;ReadPosRankSum=-1.933e+00;SOR=0.470	GT:AD:DP:GQ:PL	0/1:28,27,0:55:99:694,0,843,778,938,1717	19	0	1	0
chr20	62813171	62813171	C	0	exonic	OGFR	.	.	.	.	.	408	1041	47	1	25	74	0.0229939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	3398.84	55	chr20	62813171	.	C	T,*	3398.84	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.06;DP=927;ExcessHet=0.0409;FS=0.499;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.05;SOR=0.630	GT:AD:DP:GQ:PL	0/2:28,0,27:55:99:694,778,1717,0,938,843	17	1	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	2213.86	12	chr20	62813277	.	A	*,G	2213.86	.	AC=3,6;AF=0.079,0.158;AN=38;BaseQRankSum=-1.555e+00;DP=527;ExcessHet=0.1022;FS=5.579;InbreedingCoeff=0.2459;MLEAC=2,7;MLEAF=0.053,0.184;MQ=54.26;MQRankSum=0.052;QD=19.25;ReadPosRankSum=-3.440e-01;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,6,0:12:99:.:.:214,0,169,232,200,432	12	1	1	2
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2484.09	12	chr20	62813313	.	G	A,*	2484.09	.	AC=6,3;AF=0.273,0.136;AN=22;BaseQRankSum=1.18;DP=455;ExcessHet=0.3267;FS=2.908;InbreedingCoeff=0.1128;MLEAC=9,3;MLEAF=0.409,0.136;MQ=53.32;MQRankSum=-1.420e-01;QD=23.00;ReadPosRankSum=0.217;SOR=1.040	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:6,0,6:12:99:.:.:214,232,432,0,200,169	4	1	4	10
chr20	63305923	63305923	G	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon5:c.G380A:p.R127K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.004	N	1.000	N	0.625	N	-2.18	D	-0.845	T	0.333	T	0.051	1.272	10.15	1.6	0.656	1.401	7.714	0.141	0.0465096737716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1036873685	2.739e-06	3.42e-06	1.362e-06	4.129e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	8.994e-07	0	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	0.403	0.10378	T	0.268	0.24193	T	0.002	0.09854	B	0.004	0.10090	B	0.003906	0.34342	N	0.250879	1	0.08975	N	0.625	0.15840	N	-2.22	0.87038	D	-0.68	0.19509	N	0.121	0.11197	-0.8447	0.52331	T	0.333	0.70059	T	10	0.08090544	0.13184	T	0.04651	0.62489	D	0.141	0.37795	0.259	0.20159	0.7459921215	0.74370	0.09435587817845459	0.09367	0.0357197416899	0.03767	0.397604525089	0.24735	T	0.002999	0.02402	T	-0.183892	0.23160	T	-0.501924	0.22148	T	0.0764449089765549	0.09526	T	0.372463	0.08834	T	0.045760736	0.07545	0.039964445	0.04210	0.045760736	0.07544	0.039964445	0.04210	-3.964	0.24355	T	.	.	0.079	0.11461	B	.;.	.;.	0.373445	0.07458	4.093	0.83051028853224329	0.14516	0.13320	0.17789	N	AEFBCI	0.078188	0.15772	N	-1.10775412623325	0.06505	0.2995983	-1.10878900088262	0.07532	0.3667144	1.89137124312009E-5	0.02871	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	3.64	1.6	0.22686	0.546000	0.22991	0.682000	0.20689	0.509000	0.23192	0.002000	0.15269	0.910000	0.28117	0.003000	0.05239	0.23:0.0:0.77:0.0	7.714	0.27860	.	.	.;.	.	.	.	.	.	Uncertain significance	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	579.98	42	chr20	63305923	.	G	A	579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=734;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-2.770e-01;SOR=0.280	GT:AD:DP:GQ:PL	0/1:21,21:42:99:594,0,544	20	0	1	0
chr20	63692973	63692973	G	A	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon28:c.G2152A:p.E718K	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	YES	.	.	.	.	.	.	.	.	.	2140099	Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.992	D	0.892	P	0.000	N	0.900	N	2.095	M	2.91	T	-1.064	T	0.055	T	0.469	3.893	19.79	1.62	0.148	1.297	9.020	0.118	0.0559215773693	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906116592	4.109e-06	4.104e-06	2.725e-06	5.506e-06	0.0003	1.48e-06	9.7e-07	6.094e-05	2.522e-05	2.987e-05	0	0	0	0	0.0003	2.698e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.164	0.23360	T	0.261	0.26631	T	0.444	0.52359	B	0.284	0.58220	B	0.000344	0.45440	N	0.222028	0.89961	0.36140	D	1.915	0.51223	L	2.91	0.10008	T	-2.39	0.52612	N	0.301	0.41557	-1.0637	0.10855	T	0.055	0.23072	T	10	0.26438868	0.43925	T	0.055922	0.66415	D	0.118	0.32913	0.441	0.49648	0.331200485591	0.32731	0.436217374456984	0.43538	.	.	0.474092364311	0.35243	T	0.237151	0.60478	T	-0.125603	0.32210	T	-0.418197	0.31281	T	0.90171754360199	0.55450	D	0.823318	0.48487	T	0.14070284	0.32452	0.1273824	0.30665	0.14070284	0.32452	0.1273824	0.30664	-12.015	0.84925	D	.	.	0.083	0.15520	B	.;.;.;.	.;.;.;.	2.996601	0.40022	21.1	0.99865770577726365	0.94366	0.50173	0.28602	D	AEFDGBCI	0.097320	0.19631	N	0.0150231320504382	0.42538	2.564934	-0.0605198213616557	0.37038	2.163332	0.999989678523307	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.645665	0.59343	0	.	.	4.83	1.62	0.22817	2.544000	0.45420	3.579000	0.39150	0.660000	0.55035	0.990000	0.36992	1.000000	0.68203	0.921000	0.45669	0.0811:0.428:0.4909:0.0	9.020	0.35353	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1290.98	115	chr20	63692973	.	G	A	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.716;DP=1003;ExcessHet=0.0000;FS=1.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-6.240e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1305,0,1722	20	0	1	0
chr20	63963876	63963876	C	G	exonic	ZNF512B	.	nonsynonymous SNV	ZNF512B:NM_020713:exon9:c.G1518C:p.E506D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.164	B	0.125	B	0.000	D	0.984	D	0.93	L	1.82	T	-1.055	T	0.038	T	0.282	1.355	10.45	1.9	0.044	1.203	6.928	0.049	0.0237495823101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs920512882	2.055e-06	2.052e-06	0	4.13e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	0	0	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.287	0.15149	T	0.49	0.11551	T	0.164	0.28467	B	0.125	0.32635	B	0.000000	0.84330	D	0.000000	0.983933	0.40078	D	2.24	0.63355	M	1.82	0.25018	T	-0.4	0.13805	N	0.526	0.55540	-1.0546	0.13145	T	0.038	0.16419	T	10	0.18028861	0.33204	T	0.02375	0.46723	T	0.049	0.13647	0.336	0.32491	0.0675242888579	0.06100	0.22919627037421106	0.22834	.	.	0.706514000893	0.68088	T	0.015039	0.12694	T	-0.179803	0.23763	T	-0.496051	0.22757	T	0.332871526479721	0.26340	T	0.89551	0.63622	D	0.057709802	0.11518	0.065823816	0.13397	0.057709802	0.11517	0.065823816	0.13396	-7.73	0.59216	D	.	.	0.207	0.43338	B	.	.	1.511259	0.19414	14.25	0.99297750084365322	0.58505	0.92897	0.56815	D	AEFDGBCI	0.314439	0.41930	N	-0.570114963657062	0.19857	1.042554	-0.505874605722486	0.21993	1.192418	0.967117173931866	0.28953	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	1.9	0.24770	1.246000	0.32405	0.013000	0.13471	-0.242000	0.07441	1.000000	0.71638	0.916000	0.28226	0.051000	0.15275	0.0:0.4567:0.0:0.5433	6.928	0.23608	.	.	.	.	.	.	.	.	Uncertain significance	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	1143.98	91	chr20	63963876	.	C	G	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=856;ExcessHet=0.0000;FS=7.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-1.551e+00;SOR=1.495	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1158,0,915	20	0	1	0
chr20	64083965	64083965	T	G	exonic	LKAAEAR1	.	nonsynonymous SNV	LKAAEAR1:NM_001007125:exon1:c.A255C:p.E85D	.	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.998	D	0.878	P	0.001	N	0.999	N	1.32	L	0.76	T	-1.067	T	0.062	T	0.427	1.958	12.50	2.31	0.697	0.356	6.776	0.129	.	0.0008	0.00399361	0.0034	0.0227	0.0197	0	0	0.0057	0.0405	0.0002	0.000815	126	154602	rs77021907	0.0007	0.0007	0.0007	0.0007	0.0124	0.0007	0.0006	0.0113	0.0108	0.0124	0.0025	0.0027	0	0	0.0047	0.0003	0.0020	4.168e-05	0.0043	0.0043	0.0044	0.0041	0.0131	0.0040	0.0039	0.0122	0.0119	0.0131	0	0.0033	0.0037	0	0	0.0034	0.0004	0.0038	0	0.183	0.21718	T	0.094	0.39645	T	0.998	0.73220	D	0.878	0.62312	P	0.001456	0.38980	N	0.000000	1	0.21827	N	1.59	0.40313	L	0.72	0.50976	T	-1.73	0.41046	N	0.112	0.09914	-1.0672	0.10039	T	0.062	0.25672	T	10	0.0038745105	0.00073	T	.	.	.	0.129	0.35316	0.18	0.08751	0.0762999501168	0.06990	0.0213068750264576	0.02083	1.10714713315	0.77929	.	.	.	0.024951	0.18750	T	-0.480097	0.00738	T	-0.452014	0.27475	T	0.0086370808882041	0.00106	T	0.474053	0.14146	T	0.06983088	0.15331	0.052152254	0.08536	0.06983088	0.15331	0.052152254	0.08535	-3.526	0.24206	T	.	.	0.168	0.36986	B	.;.	.;.	1.684112	0.21463	15.21	0.9903926285363891	0.50984	0.06159	0.12141	N	AEFDGBCI	0.038182	0.05365	N	-0.457760157194188	0.23478	1.261072	-0.639583194803592	0.18479	0.9873925	0.999999999362613	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.26	2.31	0.27816	0.024000	0.13447	-0.020000	0.12938	-0.295000	0.06246	0.000000	0.06391	0.002000	0.18203	0.003000	0.05239	0.0:0.8638:0.0:0.1362	6.776	0.22804	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	334.98	41	chr20	64083965	.	T	G	334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.860e-01;DP=735;ExcessHet=0.0000;FS=1.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.17;ReadPosRankSum=-1.230e+00;SOR=0.387	GT:AD:DP:GQ:PL	0/1:25,16:41:99:349,0,636	20	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	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	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:107,118:225:99:3081,0,2545	6	6	9	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V,	.	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Uncertain significance	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	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	0/1:113,102:215:99:2445,0,2883	6	6	9	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	0/1:103,104:207:99:2248,0,2417	6	6	9	0
chr21	40353600	40353600	G	A	exonic	DSCAM	.	nonsynonymous SNV	DSCAM:NM_001271534:exon5:c.C799T:p.L267F	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.018	B	0.004	N	0.998	D	1.5	L	-0.25	T	-0.817	T	0.210	T	0.1	3.680	18.70	3.37	1.342	3.610	12.75	0.065	0.0161292728768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.091	0.40110	T	0.005	0.12996	B	0.018	0.18489	B	0.004079	0.34148	N	0.290468	0.998	0.44028	D	1.25	0.31749	L	-0.25	0.67011	T	-1.81	0.42575	N	0.159	0.16586	-0.8167	0.54140	T	0.210	0.56933	T	10	0.22403213	0.39196	T	0.016129	0.37232	T	0.065	0.18881	0.391	0.41443	0.556470843481	0.55307	0.3603589838772309	0.35949	0.851204937113	0.68538	0.414253592491	0.27045	T	0.140729	0.47542	T	-0.175297	0.24439	T	-0.489579	0.23436	T	0.523045599460602	0.33478	D	0.905509	0.67676	D	0.14469577	0.33202	0.16181885	0.37619	0.14469577	0.33202	0.16181885	0.37618	-4.825	0.34881	T	.	.	0.253	0.48817	B	.;.;.	.;.;.	3.567299	0.50221	22.9	0.99832717748074018	0.91456	0.93626	0.58734	D	AEFI	0.587096	0.58488	D	-0.284820550779313	0.29733	1.651549	-0.125537935135108	0.34363	1.975861	0.92752539646963	0.26892	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	3.37	0.37692	3.113000	0.50069	6.352000	0.55493	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.1249:0.7455:0.1295	12.75	0.56679	970	0.06235	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin 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	1170.98	97	chr21	40353600	.	G	A	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=839;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=2.22;SOR=0.926	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1185,0,1169	20	0	1	0
chr21	44382733	44382733	C	T	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon9:c.C1231T:p.R411W	.	.	422	1097	3	0	0	3	0.0013655	.	.	2298812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	2.42	M	1.28	T	-0.678	T	0.213	T	0.581	3.494	17.86	3.24	0.832	1.762	11.941	0.259	0.0879305216929	0.0005	0.000199681	0.0004	0.0002	9.161e-05	0	0	0.0006	0.0012	0.0005	0.0003558	55	154602	rs148140272	0.0004	0.0004	0.0004	0.0004	0.0014	0.0004	0.0004	0.0007	0.0005	8.961e-05	0.0001	0.0047	5.038e-05	1.872e-05	0.0014	0.0004	0.0005	0.0006	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0002	9.628e-05	0	6.539e-05	0.0029	0	0	0	0.0004	0.0009	0.0004	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.988	0.77976	D	0.000010	0.62929	D	0.065221	0.99992	0.51308	D	3.05	0.86762	M	1.28	0.35960	T	-5.09	0.83625	D	0.738	0.75101	-0.6783	0.61451	T	0.213	0.57347	T	10	0.02790603	0.00929	T	0.087931	0.75033	D	0.259	0.57090	.	.	0.656780015411	0.65391	0.6178090240101566	0.61713	0.626554708232	0.56783	0.775871157646	0.78306	T	0.718247	0.92017	D	-0.246022	0.14591	T	-0.269204	0.47899	T	0.13012198489505	0.15393	T	0.940206	0.77922	D	0.67290294	0.76588	0.43362176	0.66909	0.67290294	0.76589	0.43362176	0.66909	-6.318	0.48864	T	.	.	0.160	0.35414	B	.;.;.;.	.;.;.;.	5.144670	0.86141	28.8	0.99903257822259284	0.97426	0.78438	0.38698	D	AEFBI	0.754298	0.69421	D	0.445291966844488	0.63935	4.637349	0.347566226146323	0.58360	4.006195	0.00149244565663596	0.08586	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.14	3.24	0.36257	1.403000	0.34220	3.134000	0.36454	0.537000	0.25018	0.997000	0.40164	0.997000	0.33255	0.977000	0.56843	0.1735:0.8265:0.0:0.0	11.941	0.52188	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	912.98	66	chr21	44382733	.	C	T	912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=760;ExcessHet=0.0000;FS=1.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.141;SOR=0.484	GT:AD:DP:GQ:PL	0/1:32,34:66:99:927,0,763	20	0	1	0
chr21	44558614	44558626	GGTGGCGCAGCAG	-	exonic	KRTAP10-3	.	frameshift deletion	KRTAP10-3:NM_198696:exon1:c.90_102del:p.C31Afs*9,	.	.	400	1117	5	0	0	5	0.00223314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0003	0.0003	0	0.0097	0.0016	0.0067	0.0035	0.0002689	7	26028	rs781818625	0.0014	0.0014	0.0013	0.0016	0.0041	0.0014	0.0014	0.0037	0.0036	0.0002	0.0002	0.0005	2.521e-05	0.0101	0.0014	0.0010	0.0013	0.0041	0.0014	0.0014	0.0009	0.0020	0.0033	0.0013	0.0012	0.0021	0.0017	9.665e-05	0	6.547e-05	0	0	0.0112	0	0.0012	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2332.94	131	chr21	44558613	.	TGGTGGCGCAGCAG	T	2332.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=2457;ExcessHet=0.0000;FS=3.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.19;MQRankSum=-9.890e-01;QD=17.81;ReadPosRankSum=-3.540e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,61:131:99:0|1:44558605_G_A:2347,0,2734:44558605	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|2:0,62,61:123:99:1|0:44558605_G_A:5164,2561,2375,2564,0,2409:44558605	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,65,61:126:99:1|0:44558605_G_A:5254,2561,2366,2661,0,2535:44558605	0	17	3	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	0/2:163,0,148:311:99:5655,6163,12921,0,6648,6258	3	1	0	1
chr21	45269880	45269880	C	T	exonic	POFUT2	.	nonsynonymous SNV	POFUT2:NM_015227:exon7:c.G971A:p.R324Q	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.003	B	0.0	B	0.028	N	1.000	N	-0.09	N	1.55	T	-1.025	T	0.021	T	0.106	0.373	6.027	-1.69	-0.432	0.536	8.400	0.014	.	0.0025	0.00139776	0.0010	0.0078	0.0004	0.0007	0.0006	0.0003	0.0011	6.057e-05	0.0008926	138	154602	rs143763248	0.0005	0.0005	0.0005	0.0004	0.0079	0.0004	0.0004	0.0071	0.0068	0.0079	0.0007	0	0.0002	0.0012	0.0040	0.0002	0.0010	9.361e-05	0.0024	0.0024	0.0026	0.0022	0.0077	0.0022	0.0021	0.0070	0.0067	0.0077	0	0.0009	0	0.0002	0.0009	0.0034	0.0002	0.0019	0	0.459	0.12187	T	0.39	0.17320	T	0.003	0.11197	B	0.0	0.01387	B	0.028157	0.25646	N	0.451234	0.999741	0.20516	N	-0.55	0.02420	N	1.55	0.29866	T	0.05	0.06369	N	0.181	0.22998	-1.0254	0.21952	T	0.021	0.08639	T	10	0.010989875	0.00242	T	.	.	.	0.014	0.01968	.	.	0.158396225186	0.15383	0.20016223380280534	0.19933	0.419145018288	0.42472	0.195951104164	0.00348	T	0.057061	0.30462	T	-0.638427	0.00085	T	-0.685547	0.06650	T	0.00711488282104711	0.00081	T	0.819018	0.48242	T	0.041043945	0.05971	0.058644745	0.10871	0.041043945	0.05971	0.058644745	0.10870	-6.223	0.48109	T	.	.	0.065	0.02518	B	.;.;.	.;.;.	-0.329586	0.02490	0.291	0.83237782052323228	0.14616	0.22556	0.21786	N	AEFDBI	0.062827	0.12101	N	-1.13384091523569	0.06050	0.2774718	-1.08575883998148	0.07979	0.3904059	0.0504885299633491	0.14841	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.35	-1.69	0.07747	0.394000	0.20559	-3.031000	0.03123	-1.636000	0.00846	0.986000	0.36153	0.000000	0.08366	0.028000	0.12845	0.0:0.4215:0.0:0.5785	8.400	0.31742	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	966.98	94	chr21	45269880	.	C	T	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=792;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-5.000e-02;SOR=0.560	GT:AD:DP:GQ:PL	0/1:54,40:94:99:981,0,1204	20	0	1	0
chr21	46168541	46168541	G	A	exonic	SPATC1L	.	nonsynonymous SNV	SPATC1L:NM_001142854:exon3:c.C311T:p.P104L,	.	.	.	.	.	.	.	.	.	.	.	3326602	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.14	B	0.031	B	0.004	N	1.000	D	0.895	L	0.31	T	-1.026	T	0.115	T	0.221	1.052	9.297	4.58	1.311	1.640	10.006	0.086	0.0389735723131	.	.	0.0001	0.0005	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs750914245	0.0001	0.0001	0.0001	0.0001	0.0002	9.628e-05	9.074e-05	0.0001	9.438e-05	0.0002	0	0	0	0	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	9.417e-05	0.0002	8.667e-05	7.259e-05	9.569e-05	7.013e-05	0.0002	0	0	0	0.0002	0	0	0.0002	0	0	0.105	0.29823	T	0.087	0.40747	T	0.14	0.27540	B	0.031	0.21939	B	0.004111	0.34102	N	0.133947	0.999682	0.81001	D	0.955	0.23872	L	0.31	0.58613	T	-2.32	0.51478	N	0.131	0.12627	-1.0259	0.21788	T	0.115	0.40717	T	10	0.062360525	0.07962	T	0.038974	0.58541	D	0.086	0.25016	.	.	0.298403945805	0.29456	0.23638678847715852	0.23553	0.207412736444	0.23197	0.485770583153	0.36854	T	0.048842	0.28133	T	-0.319918	0.06905	T	-0.449008	0.27806	T	0.04359021037817	0.04346	T	.	.	.	0.03796731	0.04967	0.057323493	0.10398	0.03796731	0.04967	0.057323493	0.10398	-3.378	0.14762	T	.	.	0.085	0.09965	B	.	.	1.439297	0.18583	13.82	0.89948372931226583	0.19244	0.71170	0.34899	D	AEFBCI	0.083024	0.16816	N	-0.510520828550741	0.21738	1.155892	-0.419527100916349	0.24424	1.337385	0.192589145455179	0.18018	0.706298	0.61202	0	0.659464	0.62310	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.46	4.58	0.56077	1.177000	0.31578	4.071000	0.41665	-0.161000	0.11593	0.727000	0.28892	1.000000	0.68203	0.033000	0.13494	0.0934:0.0:0.9066:0.0	10.006	0.41127	982	0.03397	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	766.98	79	chr21	46168541	.	G	A	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=787;ExcessHet=0.0000;FS=4.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.487;SOR=1.214	GT:AD:DP:GQ:PL	0/1:48,29:79:99:781,0,1271	20	0	1	0
chr21	46287125	46287125	-	A	splicing	YBEY	NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs530846715	0.0005	0.0032	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0012	0.0018	0.0010	0.0006	0.0015	0.0004	0.0012	0.0003	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0010	0.0009	0.0012	0	6.661e-05	0	0.0008	0.0002	0	7.419e-05	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8455.27	32	chr21	46287125	.	T	TAAAAAA,TAAAAA,TA	8455.27	.	AC=7,7,1;AF=0.167,0.167,0.024;AN=42;BaseQRankSum=-1.320e+00;DP=957;ExcessHet=0.1361;FS=1.223;InbreedingCoeff=0.2741;MLEAC=7,7,1;MLEAF=0.167,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.35;ReadPosRankSum=-9.300e-02;SOR=0.767	GT:AD:DP:GQ:PL	1/2:0,21,11,0:32:99:1457,277,173,456,0,352,1133,274,451,1039	10	0	3	0
chr22	17548817	17548817	G	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.G3038A:p.R1013H	.	.	426	1065	30	1	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.996	D	0.000	D	0.803	D	1.725	L	1.58	T	-0.804	T	0.135	T	0.442	3.273	16.99	3.07	1.064	4.067	8.031	0.092	.	0.0007	0.00579073	0.0043	0.0003	0.0006	0.0002	0	0.0009	0.0022	0.0266	0.0036351	562	154602	rs200418423	0.0022	0.0022	0.0014	0.0029	0.0267	0.0021	0.0021	0.0258	0.0255	0.0002	0.0005	0.0047	2.519e-05	0	0.0085	0.0004	0.0029	0.0267	0.0014	0.0014	0.0010	0.0018	0.0256	0.0012	0.0012	0.0219	0.0205	0.0002	0	0.0008	0.0052	0.0002	0	0.0034	0.0007	0.0019	0.0256	0.0	0.91255	D	0.007	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000123	0.49741	D	0.000000	0.802596	0.34531	D	2.485	0.72352	M	1.58	0.29085	T	-1.73	0.41046	N	0.455	0.49237	-0.8044	0.54885	T	0.135	0.45029	T	10	0.0065469146	0.00148	T	.	.	.	0.092	0.26621	.	.	0.522664700966	0.51911	0.3080170032615043	0.30714	.	.	0.470560133457	0.34757	T	0.097323	0.40003	T	-0.400013	0.02315	T	-0.326418	0.41865	T	0.0489526375774208	0.05315	T	0.957304	0.83911	D	0.07036674	0.15493	0.07400179	0.16143	0.07036674	0.15493	0.07400179	0.16143	-2.476	0.05620	T	.	.	0.079	0.10159	B	.;.;.;.	.;.;.;.	3.736716	0.53487	23.4	0.99944137029088442	0.99868	0.89588	0.50148	D	AEFDBI	0.311219	0.41702	N	0.457077275495663	0.64607	4.718927	0.386242642175001	0.60714	4.262352	0.356995313021246	0.19739	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.11	3.07	0.34476	3.345000	0.51899	6.595000	0.56038	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.446000	0.27806	0.0856:0.1618:0.7527:0.0	8.031	0.29624	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	8518.11	307	chr22	17548817	.	G	A	8518.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=1461;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=1.24;SOR=0.694	GT:AD:DP:GQ:PL	0/1:163,144:307:99:3682,0,3799	19	0	2	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	0/1:97,96:193:99:.:.:2265,0,2282	3	11	7	0
chr22	19150069	19150069	G	C	exonic	GSC2	.	nonsynonymous SNV	GSC2:NM_005315:exon1:c.C215G:p.P72R,	.	.	.	.	.	.	.	.	.	.	.	3259038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.718	P	0.218	B	0.155	U	0.998	N	0.55	N	-2.89	D	-0.308	T	0.537	D	0.189	0.905	8.679	2.58	1.637	0.923	13.317	0.179	0.937633263844	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1351939545	2.345e-05	1.779e-05	1.97e-05	2.778e-05	0.0006	1.531e-05	1.245e-05	1.162e-05	9.21e-06	0	0	0	0	0	0.0006	1.936e-05	0.0001	0	4.77e-05	4.654e-05	6.633e-05	2.802e-05	9.098e-05	2.18e-05	1.572e-05	3.961e-05	2.64e-05	0	0	0	0	0	0	0	9.098e-05	0.0005	0	0.047	0.40319	D	0.042	0.50226	D	0.718	0.42284	P	0.218	0.37679	B	0.154523	0.17858	U	0.504809	0.997939	0.22436	N	0.895	0.22405	L	-2.89	0.91589	D	-1.98	0.45769	N	0.165	0.17416	-0.3084	0.74750	T	0.537	0.82878	D	10	0.35752022	0.52466	T	0.937633	0.99555	D	0.179	0.44899	0.259	0.20159	0.419090007872	0.41522	0.22281926236114907	0.22196	0.489309031724	0.47699	0.872659862041	0.92946	D	0.336067	0.70562	T	-0.0161313	0.49402	T	-0.260948	0.48729	T	0.261696428060532	0.23389	T	0.337066	0.07215	T	0.14334714	0.32949	0.2538306	0.51037	0.14334714	0.32949	0.2538306	0.51036	-4.241	0.27341	T	.	.	0.087	0.11172	B	.	.	1.381924	0.17934	13.45	0.94662712131524229	0.25280	0.10502	0.15991	N	AEFBCI	0.022707	0.01168	N	-0.617445587418041	0.18420	0.9561821	-0.690592443462068	0.17195	0.9132325	0.388009093489087	0.20020	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.75	2.58	0.30011	2.967000	0.48908	3.347000	0.37754	0.315000	0.19243	0.991000	0.37257	0.989000	0.31174	0.067000	0.16453	0.0:0.0:0.8297:0.1703	13.317	0.59851	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	67.3	3	chr22	19150069	.	G	C	67.3	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.310e-01;DP=170;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0434;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.43;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:19150069_G_C:81,0,36:19150069	20	0	1	0
chr22	19150076	19150076	-	GCAGCA	exonic	GSC2	.	nonframeshift insertion	GSC2:NM_005315:exon1:c.207_208insTGCTGC:p.C70_G71insCC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	116.43	3	chr22	19150073	.	CGCA	CGCAGCAGCA,C	116.43	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.00;DP=186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0625;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2,0:3:36:0|1:19150069_G_C:81,0,36,84,42,126:19150069	19	0	1	0
chr22	19150074	19150076	GCA	-	exonic	GSC2	.	nonframeshift deletion	GSC2:NM_005315:exon1:c.208_210del:p.C70del,	.	.	523	992	7	0	0	7	0.00351582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349295016	0.0003	0.0037	0.0003	0.0003	0.0022	0.0003	0.0003	0.0012	0.0009	0.0004	0.0006	0.0005	0.0022	0.0069	0	0.0003	0.0002	5.793e-05	2.726e-05	0.0002	2.656e-05	2.799e-05	3.034e-05	8.37e-06	5.29e-06	5.03e-06	1.88e-06	0	0	0	0	0	0.0001	0.0034	3.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	116.43	3	chr22	19150073	.	CGCA	CGCAGCAGCA,C	116.43	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.00;DP=186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0625;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2,0:3:36:0|1:19150069_G_C:81,0,36,84,42,126:19150069	19	0	1	0
chr22	19178029	19178029	C	T	exonic	SLC25A1	.	nonsynonymous SNV	SLC25A1:NM_001256534:exon2:c.G236A:p.R79Q	Combined D-2- and L-2-hydroxyglutaric aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.131	B	0.045	B	0.002	N	1.000	D	1.275	L	-1.37	T	-0.809	T	0.288	T	0.194	2.678	14.92	-0.682	0.098	0.697	7.969	0.147	0.164623945449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.388e-06	3.42e-06	1.378e-06	1.398e-06	1.201e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.055e-07	0	1.201e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.238	0.24549	T	0.131	0.27154	B	0.045	0.24526	B	0.001553	0.38671	N	0.248977	0.963153	0.81001	D	1.29	0.32370	L	-1.37	0.80214	T	-0.62	0.18248	N	0.119	0.10911	-0.8090	0.54611	T	0.288	0.66007	T	10	0.19448614	0.35261	T	0.164624	0.84369	D	0.147	0.38986	0.575	0.69957	0.255117706274	0.25116	0.5103523338446886	0.50957	0.567699286432	0.53019	0.452385812998	0.32270	T	0.272779	0.64519	T	-0.0669427	0.41814	T	-0.333935	0.41029	T	0.549359381198883	0.34453	D	0.885611	0.61095	D	0.10942417	0.25869	0.072989725	0.15810	0.10942417	0.25869	0.072989725	0.15809	-8.295	0.63062	D	0.13492386758573732	0.14620	0.098	0.16275	B	.	.	3.588058	0.50618	23.0	0.99419087124651628	0.63694	0.29163	0.23749	N	AEFDBHCI	0.246193	0.36699	N	-0.509108225755646	0.21784	1.158663	-0.468046396502609	0.23040	1.254407	0.999999989990471	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	4.51	-0.682	0.10769	0.528000	0.22711	0.988000	0.23172	-0.236000	0.07595	0.992000	0.37556	0.898000	0.27928	0.745000	0.35611	0.0:0.4746:0.0:0.5254	7.969	0.29281	755	0.51144	.	.	.	.	.	.	Uncertain significance	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	358.98	31	chr22	19178029	.	C	T	358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.37;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.840e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:19,12:31:99:373,0,439	20	0	1	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F	.	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.964	D	0.924	D	0.000	D	0.999	D	2.91	M	0.98	T	-0.753	T	0.181	T	0.47	2.600	14.65	1.93	0.367	3.255	8.231	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4400.68	107	chr22	19275743	.	C	A	4400.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.930e-01;DP=942;ExcessHet=0.3300;FS=4.437;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=1.07;SOR=0.535	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1479,0,1209	18	0	3	0
chr22	19878372	19878372	A	C	exonic	TXNRD2	.	unknown	UNKNOWN,	.	YES	0	1516	6	0	0	6	0.00197498	.	.	259117	Glucocorticoid_deficiency_5|Primary_dilated_cardiomyopathy|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0040502,MedGen:C4540522,OMIM:617825|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.032	20.7	3.93	1.200	1.681	8.450	.	.	.	0.000599042	0.0007	0	0.0007	0	0	0.0002	0.0011	0.0039	0.0005627	87	154602	rs202059967	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	5.974e-05	0.0004	0	0	0	0.0010	8.543e-05	0.0003	0.0033	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	2.408e-05	0	0	0	0	0	0.0034	8.822e-05	0.0005	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.964	0.99100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188326	0.72810	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;Recessive;.	.;.;.;.;.;High;.	9.604062	0.99123	42	0.99358526403506564	0.60904	0.75592	0.37019	D	AEFDGBCI	0.247990	0.36847	N	0.304834541952508	0.56397	3.804273	0.12089276907324	0.45619	2.821862	0.999993783691145	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.643519	0.47002	0	0.638787	0.57140	0	.	.	4.95	3.93	0.44666	1.798000	0.38449	3.929000	0.40522	-0.762000	0.03503	1.000000	0.71638	1.000000	0.68203	0.168000	0.20914	0.1869:0.0:0.8131:0.0	8.450	0.32028	914	0.21048	.;.;.;.;.;Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1599.98	134	chr22	19878372	.	A	C	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.869;SOR=0.643	GT:AD:DP:GQ:PL	0/1:71,63:134:99:1614,0,1725	20	0	1	0
chr22	26477003	26477003	T	A	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon2:c.A251T:p.D84V	Hermansky-Pudlak syndrome 4	.	0	1519	3	0	0	3	0.000986518	.	.	1150009	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.868	P	0.007	N	1.000	D	2.015	M	-2.69	D	0.605	D	0.773	D	0.915	3.781	19.20	4.39	1.075	4.507	10.211	0.729	0.160193982474	.	0.000399361	0.0004	9.61e-05	0	0	0	2.997e-05	0	0.0031	0.0003622	56	154602	rs551412746	0.0002	0.0002	9.529e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	2.987e-05	0	0	2.519e-05	0	0.0002	8.993e-07	0.0002	0.0030	8.536e-05	8.531e-05	5.14e-05	0.0001	0.0027	4.954e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.005	0.63226	D	0.002	0.79402	D	0.977	0.58535	D	0.803	0.58300	P	0.007120	0.31595	N	0.356445	1	0.81001	D	2.685	0.78553	M	-2.69	0.90451	D	-6.52	0.91695	D	0.851	0.84713	0.605	0.91962	D	0.773	0.92283	D	10	0.031972617	0.01340	T	0.160194	0.84024	D	0.729	0.90501	0.494	0.58206	0.98213724256	0.98194	0.7033651009982815	0.70277	0.338618653779	0.35826	0.335799485445	0.15808	T	0.507114	0.82500	D	0.106448	0.64980	D	0.376451	0.91305	D	0.182057598626036	0.19365	T	0.907509	0.67274	D	0.31541273	0.54251	0.2938731	0.55416	0.30549997	0.53394	0.28901795	0.54920	-11.474	0.82194	D	.	.	0.264	0.50581	B	.;.;.;.	.;.;.;.	4.535607	0.71241	25.6	0.99339656184187575	0.60131	0.92956	0.56963	D	AEFDGBCI	0.610048	0.59902	D	0.479785050001416	0.65910	4.882	0.441562485768123	0.64176	4.666962	0.999999979311598	0.74766	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.43	4.39	0.52211	4.508000	0.60161	4.975000	0.46425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0781:0.0:0.9219	10.211	0.42317	966	0.07191	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	86	chr22	26477003	.	T	A	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-9.750e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:46,40:86:99:941,0,1156	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|1:91,15:106:16:0|1:27983493_C_G:16,0,3299:27983493	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|1:91,15:106:16:0|1:27983493_C_G:16,0,3299:27983493	1	0	7	13
chr22	36265344	36265344	A	-	exonic	APOL1	.	frameshift deletion	APOL1:NM_001136541:exon5:c.454delA:p.G153Afs*19	.	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.149e-05	0	0	0	0	6.02e-05	0	6.28e-05	3.23e-05	5	154602	rs757661619	8.222e-06	8.209e-06	2.726e-06	1.378e-05	0.0002	4.39e-06	3.46e-06	3.004e-05	2.044e-05	0	0	0	0	0	0.0002	4.502e-06	0	6.982e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2412.94	151	chr22	36265343	.	CA	C	2412.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.480;DP=3014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=0.455;SOR=0.688	GT:AD:DP:GQ:PL	0/1:70,81:151:99:2427,0,2037	20	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.618	N	1.000	D	.	.	.	.	.	.	.	.	.	3.773	19.16	-2.28	-0.449	-1.035	3.413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	3603.9	128	chr22	36265782	.	G	T	3603.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.811e+00;DP=3016;ExcessHet=3.5521;FS=129.024;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.90;ReadPosRankSum=0.599;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,35:128:99:0|1:36265782_G_T:586,0,2441:36265782	13	0	8	0
chr22	36871659	36871659	G	A	exonic	NCF4	.	nonsynonymous SNV	NCF4:NM_000631:exon6:c.G478A:p.V160M	.	.	0	1502	20	0	0	20	0.00661376	.	.	352521	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_3|not_provided|NCF4-related_disorder|not_specified	MONDO:MONDO:0013507,MedGen:C3151409,OMIM:613960,Orphanet:379|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.283	B	0.018	B	0.765	N	1.000	N	1.24	L	1.07	T	-0.991	T	0.125	T	0.051	0.898	8.648	-1.66	-0.065	0.180	7.957	0.017	.	0.0008	0.00139776	0.0049	0.0016	0	0.0119	0	0.0023	0.0046	0.0089	0.0012548	194	154602	rs150103256	0.0011	0.0011	0.0009	0.0013	0.0068	0.0011	0.0011	0.0063	0.0062	0.0002	0.0004	0.0034	0.0032	7.96e-05	0.0040	0.0006	0.0023	0.0068	0.0012	0.0012	0.0011	0.0014	0.0101	0.0011	0.0010	0.0079	0.0071	0.0004	0	0.0012	0.0046	0.0027	9.414e-05	0.0034	0.0009	0.0028	0.0101	0.209	0.25355	T	0.238	0.29153	T	0.122	0.26746	B	0.005	0.11217	B	0.765414	0.06565	N	1.132340	1	0.08975	N	-0.205	0.04094	N	1.07	0.58468	T	-0.5	0.15782	N	0.117	0.10626	-0.9911	0.32321	T	0.125	0.42883	T	10	0.003737539	0.00069	T	.	.	.	0.017	0.02790	.	.	0.534620942121	0.53112	0.2759971034556951	0.27512	0.175934184844	0.19809	0.389452517033	0.23592	T	0.023979	0.35768	T	-0.614211	0.00119	T	-0.650202	0.08940	T	0.00110288350147505	0.00011	T	0.482752	0.14626	T	0.016196107	0.00182	0.028450185	0.01083	0.018778292	0.00400	0.030498138	0.01512	-4.987	0.38170	T	0.167550838305845	0.20899	0.083	0.14523	B	.;.;.	.;.;.	0.891438	0.12651	9.174	0.83963086124445818	0.15019	0.03110	0.08046	N	AEFDBCI	0.057557	0.10732	N	-1.18311970823905	0.05255	0.239131	-1.26311506601942	0.04939	0.2342071	0.998763451817873	0.37623	0.706548	0.73137	0	0.724815	0.89359	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	4.17	-1.66	0.07824	0.069000	0.14419	-0.168000	0.11254	-1.765000	0.00671	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.6357:0.0:0.3643:0.0	7.957	0.29211	758	0.50837	.;.;.	.	.	.	.	.	Likely benign	0	0	0	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	1768.11	64	chr22	36871659	.	G	A	1768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.820e-01;DP=808;ExcessHet=0.1072;FS=2.197;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.59;SOR=0.568	GT:AD:DP:GQ:PL	0/1:24,40:64:99:904,0,470	19	0	2	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	0/1:43,31,0:74:99:1114,0,1703,1133,1846,3096	13	1	6	0
chr22	37724705	37724705	C	G	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C2149G:p.Q717E,	Deafness, autosomal recessive 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	270996	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_28	MedGen:C3661900|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.003	B	0.001	B	.	.	1.000	N	1.15	L	1.91	T	-0.956	T	0.028	T	0.124	1.180	9.801	-9.07	-1.559	-2.416	6.168	0.017	0.00439003065515	0.0035	0.000199681	0.0020	0.0003	0.0003	0	0.0003	0.0035	0	0.0001	0.0021604	334	154602	rs186620158	0.0036	0.0036	0.0038	0.0034	0.0042	0.0035	0.0035	0.0041	0.0041	0.0003	0.0004	0.0122	2.519e-05	0.0002	0.0003	0.0042	0.0026	0.0002	0.0023	0.0023	0.0022	0.0023	0.0037	0.0021	0.0020	0.0034	0.0032	0.0007	0	0.0011	0.0101	0	0.0003	0	0.0037	0.0019	0	0.067	0.35918	T	0.327	0.18732	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	1.91	0.23283	T	-0.58	0.17417	N	0.1	0.08227	-0.9555	0.40006	T	0.028	0.12147	T	9	0.0028777122	0.00046	T	0.00439	0.10718	T	0.017	0.02790	.	.	0.151104730317	0.14643	0.012739363645455023	0.01232	0.12580541079	0.14181	0.176687687635	0.00067	T	0.019664	0.15622	T	-0.654772	0.00068	T	-0.712358	0.05175	T	0.0132102437320697	0.00235	T	0.176782	0.01721	T	0.06499278	0.13846	0.045805443	0.06246	0.05950838	0.12103	0.039464675	0.04046	-8.693	0.65700	D	.	.	0.075	0.05491	B	.;.	.;.	-0.131028	0.03462	0.641	0.36140271323700329	0.02308	0.02147	0.06318	N	AEFBHCI	0.043863	0.06987	N	-1.89835956685348	0.00346	0.01485989	-2.00690681053548	0.00296	0.0130784	0.999869968914602	0.44398	0.67177	0.52595	0	0.633656	0.55848	0	0.702456	0.68683	0	0.579976	0.35079	0	.	.	4.54	-9.07	0.00619	-3.660000	0.00449	-20.000000	0.00162	-0.956000	0.02005	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5811:0.1851:0.0:0.2338	6.168	0.19615	910	0.22284	.;.	.	.	.	.	.	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	7552.98	680	chr22	37724705	.	C	G	7552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.425e+00;DP=6266;ExcessHet=0.0000;FS=2.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.982;QD=11.11;ReadPosRankSum=0.680;SOR=0.861	GT:AD:DP:GQ:PL	0/1:344,336:680:99:7567,0,8804	20	0	1	0
chr22	38082797	38082797	A	G	exonic	SLC16A8	.	nonsynonymous SNV	SLC16A8:NM_013356:exon3:c.T77C:p.F26S,	.	.	414	1088	20	0	0	20	0.00910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.225	M	0.9	T	-0.210	T	0.322	T	0.936	5.214	33	4.45	1.788	7.304	14.018	0.614	.	0.0008	0.00519169	0.0059	0	0.0024	0.0003	0.0009	0.0028	0.0028	0.0189	0.0025355	392	154602	rs76230437	0.0021	0.0021	0.0017	0.0025	0.0140	0.0020	0.0020	0.0133	0.0131	0.0003	0.0010	0.0024	2.555e-05	0.0001	0.0047	0.0014	0.0024	0.0140	0.0016	0.0016	0.0014	0.0017	0.0153	0.0014	0.0014	0.0125	0.0115	0.0001	0.0121	0.0007	0.0026	0	0.0003	0	0.0018	0.0024	0.0153	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000005	0.62929	D	0.000000	0.999998	0.58761	D	3.575	0.93507	H	0.9	0.45248	T	-6.62	0.95815	D	0.673	0.68082	-0.2105	0.77401	T	0.322	0.69056	T	10	0.011802018	0.00256	T	.	.	.	0.614	0.84932	.	.	0.650396906566	0.64749	0.9199488251834103	0.91970	0.940998533728	0.72202	0.707973182201	0.68300	T	0.451162	0.79199	T	-0.0446398	0.45257	T	0.174778	0.81693	D	0.155474108007556	0.17531	T	0.933907	0.75876	D	0.9502605	0.96292	0.95024955	0.98414	0.9502605	0.96292	0.95024955	0.98415	-10.613	0.77494	D	.	.	0.950	0.86878	P	.;.	.;.	4.806610	0.78151	26.8	0.99847016519748233	0.92663	0.94348	0.60879	D	AEFDGBHCI	0.887559	0.81990	D	0.800811689162397	0.86157	8.796093	0.705053027307735	0.82764	7.848117	0.999999999989457	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.45	4.45	0.53365	7.292000	0.78084	6.765000	0.56546	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.018	0.64051	504	0.75712	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	537.98	62	chr22	38082797	.	A	G	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=743;ExcessHet=0.0000;FS=3.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=0.882;SOR=0.646	GT:AD:DP:GQ:PL	0/1:38,24:62:99:552,0,960	20	0	1	0
chr22	39995302	39995302	-	CAAGGC	exonic	FAM83F	.	nonframeshift insertion	FAM83F:NM_138435:exon1:c.260_261insCAAGGC:p.A93_P94insKA,	.	.	342	1175	5	0	0	5	0.00212314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0035	0	0	.	0.0003	0	0	3.84e-05	1	26028	rs752114815	0.0003	0.0003	0.0004	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0.0003	0	5.603e-05	2.702e-05	0.0009	0.0003	0.0005	8.845e-05	0.0006	0.0006	0.0006	0.0006	0.0016	0.0005	0.0005	0.0013	0.0011	0.0016	0	6.536e-05	0	0	0	0.0034	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	807.94	62	chr22	39995302	.	G	GCAAGGC	807.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.204e+00;DP=785;ExcessHet=0.0000;FS=9.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.831;SOR=0.978	GT:AD:DP:GQ:PL	0/1:39,23:62:99:822,0,1557	20	0	1	0
chr22	40021772	40021772	G	A	exonic	FAM83F	.	nonsynonymous SNV	FAM83F:NM_138435:exon4:c.G1262A:p.R421Q,	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.029	B	0.002	B	0.200	N	1.000	N	0.625	N	3.07	T	-0.971	T	0.015	T	0.018	-0.692	0.998	-0.614	-0.621	-0.171	3.968	0.013	0.0043552116728	0.0005	0.000399361	0.0002	0.0025	0.0003	0	0	3.173e-05	0	0	0.000207	32	154602	rs141861984	8.969e-05	8.961e-05	9.265e-05	8.67e-05	0.0018	7.696e-05	7.24e-05	0.0014	0.0013	0.0018	0.0001	0	2.519e-05	0	0.0002	3.328e-05	0.0003	0.0001	0.0005	0.0005	0.0004	0.0006	0.0018	0.0004	0.0004	0.0015	0.0014	0.0018	0	6.533e-05	0	0	0	0.0034	7.353e-05	0	0.0002	0.567	0.06243	T	0.153	0.34241	T	0.029	0.19866	B	0.002	0.06944	B	0.199939	0.03312	N	1.555930	1	0.08975	N	1.1	0.28011	L	3.07	0.08547	T	0.12	0.05604	N	0.046	0.01999	-0.9709	0.37009	T	0.015	0.05946	T	10	0.005182892	0.00113	T	0.004355	0.10592	T	0.013	0.01715	.	.	0.101711395817	0.09552	0.05482347971291139	0.05423	0.256540601776	0.28227	0.207433342934	0.00707	T	0.003882	0.03292	T	-0.748883	0.00018	T	-0.853422	0.00917	T	0.00058893429225237	0.00005	T	0.535646	0.17968	T	0.014988374	0.00117	0.025959516	0.00662	0.014988374	0.00116	0.025959516	0.00662	-3.363	0.14563	T	.	.	0.067	0.03407	B	.;.	.;.	-0.568474	0.01660	0.117	0.73536878605728229	0.10364	0.03750	0.09054	N	AEFDBI	0.076980	0.15498	N	-1.57674261410492	0.01384	0.06036158	-1.58762121000483	0.01731	0.0786886	0.998395183268217	0.36888	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.52	-0.614	0.11009	-0.658000	0.05429	-1.274000	0.05845	-1.487000	0.01050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3232:0.0:0.4137:0.2631	3.968	0.08932	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	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	1280.98	67	chr22	40021772	.	G	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=966;ExcessHet=0.0000;FS=1.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.12;ReadPosRankSum=-8.180e-01;SOR=0.489	GT:AD:DP:GQ:PL	0/1:24,43:67:99:1295,0,562	20	0	1	0
chr22	40021897	40021897	G	A	exonic	FAM83F	.	nonsynonymous SNV	FAM83F:NM_138435:exon4:c.G1387A:p.E463K,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.135	B	0.013	B	0.001	N	0.938	D	0.55	N	2.65	T	-1.015	T	0.021	T	0.513	1.709	11.67	4.13	1.396	2.676	12.129	0.169	0.00804765345173	0.0002	.	0.0002	0.0018	0.0002	0	0	0	0	0	0.0001294	20	154602	rs376939521	4.211e-05	4.378e-05	4.114e-05	4.31e-05	0.0011	3.341e-05	3.028e-05	0.0008	0.0007	0.0011	6.931e-05	0	0	0	0.0002	1.809e-06	0.0002	8.148e-05	0.0004	0.0004	0.0003	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	6.54e-05	0	0.0002	0	0	2.94e-05	0	0	0.056	0.38185	T	0.228	0.37589	T	0.135	0.27304	B	0.013	0.16460	B	0.001134	0.40136	N	0.091358	0.938094	0.37213	D	1.5	0.37844	L	2.65	0.12676	T	-1.47	0.35991	N	0.165	0.17416	-1.0147	0.25432	T	0.021	0.09101	T	10	0.017718196	0.00380	T	0.008048	0.21342	T	0.169	0.43123	.	.	0.337135696972	0.33324	0.21487929702063946	0.21403	0.261130922638	0.28668	0.33028191328	0.14977	T	0.012295	0.10832	T	-0.453605	0.01075	T	-0.443363	0.28432	T	0.0297548356195785	0.01951	T	0.381762	0.09261	T	0.09960704	0.23508	0.1416863	0.33733	0.09960704	0.23508	0.1416863	0.33732	-3.798	0.24072	T	.	.	0.082	0.11220	B	.;.	.;.	2.586259	0.33543	19.37	0.99383593595977238	0.61979	0.88985	0.49187	D	AEFDBI	0.242009	0.36354	N	-0.533035995407775	0.21018	1.112387	-0.457956725744776	0.23323	1.271324	0.999999721159108	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.14	4.13	0.47661	2.213000	0.42483	4.002000	0.41083	0.676000	0.76740	0.964000	0.33853	1.000000	0.68203	0.004000	0.06068	0.0789:0.0:0.9211:0.0	12.129	0.53235	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	859.98	54	chr22	40021897	.	G	A	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.105;DP=802;ExcessHet=0.0000;FS=8.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.93;ReadPosRankSum=0.281;SOR=0.928	GT:AD:DP:GQ:PL	0/1:19,35:54:99:874,0,357	20	0	1	0
chr22	40792566	40792566	T	C	exonic	SLC25A17	.	nonsynonymous SNV	SLC25A17:NM_006358:exon4:c.A293G:p.H98R	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	0.696	N	1.000	N	-0.205	N	-1.12	T	-1.042	T	0.066	T	0.027	-0.303	2.554	-2.39	-0.556	-1.161	5.838	0.264	.	0.0043	0.00459265	0.0014	0.0150	0.0003	0	0	1.657e-05	0	0	0.0011513	178	154602	rs12159334	0.0003	0.0003	0.0004	0.0003	0.0123	0.0003	0.0003	0.0114	0.0110	0.0123	0.0006	0	0	0	0.0005	4.497e-06	0.0008	8.123e-05	0.0036	0.0036	0.0037	0.0035	0.0126	0.0033	0.0032	0.0117	0.0113	0.0126	0	0.0010	0	0	0	0	0	0.0019	0.0002	0.772	0.07330	T	0.663	0.07691	T	0.0	0.02946	B	0.0	0.01387	B	0.696210	0.06175	N	1.149520	1	0.81001	D	0.94	0.23649	L	-1.12	0.77593	T	0.11	0.11366	N	0.044	0.01658	-1.0420	0.16711	T	0.066	0.27191	T	10	0.006257832	0.00141	T	.	.	.	0.264	0.57741	.	.	0.294918367191	0.29099	0.29729815333457477	0.29642	0.210003878732	0.23475	0.706560790539	0.68094	T	0.007093	0.06507	T	-0.539147	0.00339	T	-0.535548	0.18737	T	0.00219768953078095	0.00023	T	0.0259474	0.00157	T	0.023430722	0.01083	0.028996011	0.01190	0.023430722	0.01083	0.028996011	0.01189	-0.04	0.00364	T	.	.	0.063	0.01810	B	.;.	.;.	0.504918	0.08741	5.514	0.82933113567736627	0.14452	0.02007	0.06042	N	AEFDGBI	0.051426	0.09084	N	-1.23673592878052	0.04478	0.2021576	-1.16153268076267	0.06563	0.3163199	0.999720144818113	0.42220	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	1.83	-2.39	0.06223	0.284000	0.18624	-0.762000	0.07532	-0.177000	0.10537	0.972000	0.34453	0.010000	0.20010	0.995000	0.73285	0.0:0.5391:0.0:0.4609	5.838	0.17876	248	0.90287	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1437.98	109	chr22	40792566	.	T	C	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.315e+00;DP=817;ExcessHet=0.0000;FS=3.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=2.57;SOR=0.731	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1452,0,1090	20	0	1	0
chr22	42141584	42141584	G	A	exonic	CYP2D7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.016	B	0.107	B	0.008	N	1.000	D	.	.	.	.	-0.921	T	0.175	T	.	-1.099	0.144	0.223	0.025	0.575	8.133	0.049	.	.	.	0.0003	0.0026	0.0003	0	0	0	0.0011	6.124e-05	0.0002005	31	154602	rs778653964	6.325e-05	6.757e-05	7.574e-05	5.081e-05	0.0022	5.189e-05	4.848e-05	0.0018	0.0016	0.0022	0.0001	0	2.559e-05	0	0	0	8.717e-05	4.746e-05	0.0005	0.0005	0.0005	0.0006	0.0018	0.0004	0.0004	0.0015	0.0014	0.0018	0	6.54e-05	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.008405	0.30856	N	0.310402	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.161	0.16864	-0.9207	0.45458	T	0.175	0.51848	T	8	0.021625161	0.00522	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.079146	0.36059	T	-0.510853	0.00496	T	-0.512439	0.21063	T	0.0267915925844863	0.01515	T	0.726827	0.34443	T	0.038315192	0.05080	0.05492819	0.09540	0.038315192	0.05079	0.05492819	0.09539	-7.11	0.54832	T	.	.	0.109	0.44188	B	.;.	.;.	-0.743862	0.01222	0.061	0.58645548850843854	0.06040	0.29223	0.23765	N	AEFDBI	0.013634	0.00188	N	-0.961786533231828	0.09429	0.4462315	-1.01910217386783	0.09365	0.4655215	0.162037114668088	0.17608	0.090766	0.02384	0	0.09434	0.02614	0	0.129117	0.03641	0	0.083433	0.02327	0	.	.	3.59	0.223	0.14568	0.618000	0.24068	-0.137000	0.11557	-1.937000	0.00494	0.844000	0.30348	0.000000	0.08366	0.003000	0.05239	0.2866:0.0:0.7134:0.0	8.133	0.30200	106	0.95650	.;.	.	.	.	.	.	Uncertain significance	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	1744.98	148	chr22	42141584	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=1650;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.310e+00;SOR=0.862	GT:AD:DP:GQ:PL	0/1:82,66:148:99:1759,0,2057	20	0	1	0
chr22	43669029	43669029	G	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.C1201G:p.Q401E	.	.	435	1064	21	2	0	25	0.0116117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.102	B	0.03	B	0.359	N	1.000	D	2.095	M	1.04	T	-1.048	T	0.108	T	0.124	0.124	4.668	3.94	1.296	2.206	10.540	0.088	0.00600643665542	0.0015	0.00119808	0.0021	0.0006	0.0011	0	0	0.0019	0.0044	0.0068	0.0019599	303	154602	rs142603983	0.0017	0.0017	0.0014	0.0019	0.0096	0.0016	0.0016	0.0075	0.0068	0.0003	0.0011	0.0040	5.073e-05	1.877e-05	0.0096	0.0013	0.0019	0.0075	0.0013	0.0013	0.0013	0.0012	0.0060	0.0011	0.0011	0.0043	0.0037	0.0004	0	0.0007	0.0035	0.0002	0	0.0034	0.0018	0.0009	0.0060	0.43	0.09543	T	0.022	0.57587	D	0.102	0.25827	B	0.03	0.21741	B	0.359028	0.13698	N	0.695852	0.987798	0.24480	N	2.455	0.71248	M	1.04	0.40218	T	-0.84	0.22944	N	0.259	0.36884	-1.0483	0.14875	T	0.108	0.39221	T	10	0.0059239566	0.00133	T	0.006006	0.15668	T	0.088	0.25558	.	.	0.588714669503	0.58547	0.22755316562618697	0.22670	0.117441942622	0.13232	0.344939410686	0.17173	T	0.003435	0.02839	T	-0.558226	0.00260	T	-0.570764	0.15379	T	0.013569507946063	0.00250	T	0.679332	0.28809	T	0.096601725	0.22757	0.089775704	0.21013	0.096601725	0.22756	0.089775704	0.21012	-5.902	0.45453	T	.	.	0.085	0.10111	B	.;.	.;.	2.170900	0.27664	17.54	0.81263561073229329	0.13599	0.82853	0.42026	D	AEFI	0.171727	0.29872	N	-0.29548272239765	0.29323	1.625038	-0.235397199423039	0.30278	1.703392	3.41392403691261E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	3.94	0.44807	1.815000	0.38620	4.647000	0.44180	0.676000	0.76740	0.957000	0.33433	1.000000	0.68203	0.763000	0.36255	0.0:0.0:0.8073:0.1927	10.540	0.44215	923	0.18507	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	824.98	75	chr22	43669029	.	G	C	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.730e-01;DP=778;ExcessHet=0.0000;FS=3.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-6.270e-01;SOR=0.358	GT:AD:DP:GQ:PL	0/1:40,35:75:99:839,0,1021	20	0	1	0
chr22	44786481	44786481	C	T	exonic	PRR5-ARHGAP8	.	nonsynonymous SNV	PRR5-ARHGAP8:NM_181334:exon5:c.C347T:p.A116V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.926	P	0.177	B	0.001	D	1.000	N	1.79	L	2.27	T	-1.003	T	0.086	T	0.224	2.645	14.80	-7.04	-2.085	-1.296	2.564	0.025	0.00717840651347	0.0025	0.000798722	0.0024	0.0029	0.0024	0	0.0003	0.0034	0.0019	8.843e-05	0.00152	235	154602	rs192851961	0.0030	0.0030	0.0031	0.0028	0.0036	0.0029	0.0029	0.0035	0.0035	0.0013	0.0019	0.0010	2.54e-05	0.0002	0	0.0036	0.0031	1.173e-05	0.0020	0.0020	0.0021	0.0019	0.0031	0.0019	0.0018	0.0027	0.0026	0.0017	0	0.0016	0.0006	0	0.0002	0	0.0031	0.0024	0	0.433	0.16903	T	0.21	0.26714	T	0.004	0.12183	B	0.001	0.04355	B	0.000748	0.42006	D	0.000000	1	0.08975	N	.	.	.	2.27	0.18570	T	-0.69	0.19720	N	0.184	0.19995	-1.0034	0.28933	T	0.086	0.33410	T	10	0.0071768463	0.00163	T	0.007178	0.19034	T	0.035	0.08770	.	.	0.0611884634855	0.05136	0.3761150027901493	0.37526	.	.	0.482897698879	0.36456	T	.	.	.	-0.626273	0.00101	T	-0.671421	0.07517	T	0.0277044039338619	0.01645	T	0.39866	0.10107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.30370	B	.;.	.;.	0.156657	0.05477	1.946	0.97540517339266364	0.34512	0.00895	0.03516	N	AEFBI	0.038238	0.05383	N	-1.12069309565014	0.06275	0.2884592	-1.37142379461497	0.03560	0.1662913	0.939816795213236	0.27404	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.52	-7.04	0.01423	-1.755000	0.01913	-0.641000	0.08077	-2.381000	0.00300	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1718:0.5392:0.0888:0.2003	2.564	0.04488	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	437.98	31	chr22	44786481	.	C	T	437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.692;DP=720;ExcessHet=0.0000;FS=1.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-8.100e-02;SOR=0.437	GT:AD:DP:GQ:PL	0/1:12,19:31:99:452,0,233	20	0	1	0
chr22	46346453	46346453	A	G	exonic	TRMU	.	nonsynonymous SNV	TRMU:NM_001282783:exon3:c.A26G:p.Q9R	Liver failure, transient infantile, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	141411	Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins|not_specified|Aminoglycoside-induced_deafness|not_provided	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371|MedGen:CN169374|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000,Orphanet:168609|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.00239617	0.0035	0.0013	0.0029	0	0.0026	0.0053	0.0066	0	0.0039521	611	154602	rs144586525	0.0067	0.0067	0.0069	0.0066	0.0082	0.0066	0.0066	0.0080	0.0080	0.0011	0.0037	0.0018	0	0.0028	0.0007	0.0082	0.0062	0.0002	0.0047	0.0047	0.0048	0.0045	0.0074	0.0044	0.0043	0.0068	0.0066	0.0014	0.0197	0.0049	0.0020	0	0.0039	0.0102	0.0074	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2403.98	282	chr22	46346453	.	A	G	2403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.386e+00;DP=975;ExcessHet=0.0000;FS=2.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.52;ReadPosRankSum=1.08;SOR=0.833	GT:AD:DP:GQ:PL	0/1:165,117:282:99:2418,0,4119	20	0	1	0
chr22	49884936	49884936	C	T	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.C1274T:p.A425V,	.	.	426	1039	54	3	0	60	0.0280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.0	B	0.626	N	1.000	N	-1.245	N	0.97	T	-0.993	T	0.018	T	0.034	-2.065	0.006	-3.87	-1.067	-0.431	6.952	0.010	.	0.0036	0.00399361	0.0050	0.0012	0.0048	0	0.0014	0.0052	0.0112	0.0108	0.0047606	736	154602	rs146411541	0.0044	0.0044	0.0040	0.0047	0.0234	0.0043	0.0042	0.0202	0.0190	0.0013	0.0044	0.0203	5.043e-05	0.0007	0.0234	0.0037	0.0067	0.0105	0.0037	0.0037	0.0036	0.0038	0.0104	0.0034	0.0033	0.0081	0.0073	0.0010	0	0.0053	0.0196	0	0.0014	0.0102	0.0043	0.0071	0.0104	0.639	0.05017	T	0.486	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.625807	0.10734	N	0.810413	1	0.08975	N	-1.39	0.00611	N	0.97	0.42502	T	-0.11	0.08653	N	0.043	0.01577	-0.9929	0.31853	T	0.018	0.07329	T	10	0.002109021	0.00030	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.14576151107688307	0.14499	0.416527251118	0.42292	0.305198401213	0.11181	T	0.022249	0.17186	T	-0.703328	0.00035	T	-0.775382	0.02595	T	0.000719385774239782	0.00007	T	0.331767	0.06954	T	0.012989459	0.00046	0.023819037	0.00395	0.012989459	0.00046	0.023819037	0.00395	-3.132	0.11668	T	.	.	0.064	0.01577	B	.	.	-0.973239	0.00810	0.027	0.27354374797518821	0.01354	0.00434	0.02127	N	AEFBI	0.015799	0.00319	N	-1.86894502346642	0.00397	0.01708544	-1.83612183965624	0.00650	0.02891738	0.935458911534085	0.27214	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.6	-3.87	0.03939	-0.396000	0.07338	-1.679000	0.04930	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.0:0.38:0.1225:0.4976	6.952	0.23732	974	0.05496	.	.	.	.	.	.	Likely benign	0	0	0	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	3140.11	107	chr22	49884936	.	C	T	3140.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.213;DP=2031;ExcessHet=0.1072;FS=0.481;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-7.410e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1479,0,1176	19	0	2	0
chr22	50201141	50201141	C	G	exonic	SELENOO	.	unknown	UNKNOWN,	.	.	434	1059	25	4	0	33	0.0153417	.	.	2819745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0137	0.0714	0	0	.	0.0259	0	0.0100	0.0008926	138	154602	rs528120489	0.0072	0.0065	0.0071	0.0073	0.0224	0.0071	0.0070	0.0183	0.0167	0.0011	0.0048	0.0202	3.802e-05	0.0066	0.0224	0.0073	0.0073	0.0065	0.0059	0.0059	0.0059	0.0059	0.0076	0.0056	0.0054	0.0070	0.0068	0.0013	0	0.0074	0.0213	0.0010	0.0076	0.0207	0.0076	0.0067	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	369.11	13	chr22	50201141	.	C	G	369.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.263;DP=639;ExcessHet=0.1072;FS=1.397;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=1.00;SOR=0.430	GT:AD:DP:GQ:PL	0/1:8,5:13:99:102,0,165	19	0	2	0
chrX	6533921	6533921	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C385G:p.Q129E,	.	.	543	966	2	0	11	13	0.00103413	.	.	215626	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.95	T	0.02	B	0.002	B	.	.	1.000	N	1.15	L	2.35	T	-0.939	T	0.019	T	0.077	-1.123	0.123	.	-2.726	-3.634	3.380	0.021	0.00100473547963	.	.	0.0006	0.0006	0	0.0002	0.0005	0.0008	0	0.0004	0.0003074	8	26028	rs139657007	0.0002	0.0006	0.0003	1.211e-05	0.0015	0.0002	0.0002	0.0005	0.0003	0.0002	0.0002	0.0004	3.458e-05	0.0011	0.0015	0.0002	0.0004	0.0001	0.0011	0.0016	0.0014	0	0.0018	0.0009	0.0008	0.0014	0.0012	0.0018	0	0.0007	0.0005	0	0.0009	0	0.0010	0	0.0006	0.681	0.04417	T	0.914	0.02926	T	0.02	0.18235	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.16217	T	-0.48	0.15379	N	0.073	0.04668	-0.9390	0.42774	T	0.019	0.08173	T	8	0.017632455	0.00378	T	0.001005	0.01073	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.0013055078381560828	0.00120	0.28885402027	0.31292	0.460381567478	0.33362	T	9.57E-4	0.00501	T	-0.910172	0.00000	T	-1.09919	0.00028	T	0.00686715525122581	0.00078	T	0.454955	0.12997	T	0.1174931	0.27699	0.07922997	0.17819	0.1174931	0.27699	0.07922997	0.17818	-2.396	0.05108	T	.	.	0.036	0.00006	B	.	.	-1.616596	0.00232	0.004	0.22995920600298814	0.00951	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	7.2036496174935E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.428000	0.00527	-3.340000	0.02863	-3.294000	0.00099	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4896:0.2637:0.2466	3.380	0.06828	1000	0.00083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1235.1	75	chrX	6533921	.	G	C,GGCTCTCCTGACTCAGTGGTTCTTCCACCTC	1235.1	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.946;DP=1251;ExcessHet=0.1072;FS=48.252;InbreedingCoeff=-0.0504;MLEAC=1,1;MLEAF=0.024,0.024;MQ=35.85;MQRankSum=1.61;QD=8.29;ReadPosRankSum=0.347;SOR=2.603	GT:AD:DP:GQ:PL	0/2:59,0,16:75:99:349,612,5565,0,2413,2195	19	0	1	0
chrX	6533921	6533921	-	GCTCTCCTGACTCAGTGGTTCTTCCACCTC	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.384_385insGAGGTGGAAGAACCACTGAGTCAGGAGAGC:p.S128_Q129insEVEEPLSQES,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	7.68e-05	2	26028	rs1363855103	0.0009	0.0032	0.0013	1.523e-05	0.0019	0.0009	0.0008	0.0009	0.0009	0.0002	0.0005	0.0020	6.911e-05	0.0009	0.0019	0.0010	0.0017	5.985e-05	0.0012	0.0018	0.0016	5.244e-05	0.0016	0.0010	0.0010	0.0013	0.0012	0.0005	0.0220	0.0016	0.0014	0.0004	0.0002	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1235.1	75	chrX	6533921	.	G	C,GGCTCTCCTGACTCAGTGGTTCTTCCACCTC	1235.1	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.946;DP=1251;ExcessHet=0.1072;FS=48.252;InbreedingCoeff=-0.0504;MLEAC=1,1;MLEAF=0.024,0.024;MQ=35.85;MQRankSum=1.61;QD=8.29;ReadPosRankSum=0.347;SOR=2.603	GT:AD:DP:GQ:PL	0/2:59,0,16:75:99:349,612,5565,0,2413,2195	19	0	1	0
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2446.35	418	chrX	7843933	.	A	G,*	2446.35	.	AC=2,2;AF=0.063,0.063;AN=32;BaseQRankSum=4.80;DP=4453;ExcessHet=0.7148;FS=15.808;InbreedingCoeff=-0.0857;MLEAC=2,2;MLEAF=0.063,0.063;MQ=44.62;MQRankSum=-5.000e-03;QD=2.95;ReadPosRankSum=-4.069e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,71,0:418:99:0|1:7843933_A_G:907,0,8960,1943,9171,11115:7843933	12	0	2	5
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,422,0,0:422:99:1|1:7843933_A_G:13185,1252,0,13185,1252,13185,13185,1252,13185,13185:7843933	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,422,0,0:422:99:1|1:7843933_A_G:13185,1252,0,13185,1252,13185,13185,1252,13185,13185:7843933	0	8	6	4
chrX	8466006	8466035	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.364_393del:p.Q129_S138del,	.	.	621	857	9	1	34	45	0.00637681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	8.236e-05	0	0.0009	0.0001617	25	154602	rs768996666	0.0024	0.0022	0.0028	0.0012	0.0042	0.0023	0.0023	0.0023	0.0021	0.0005	0.0029	0.0044	0.0007	0.0042	0.0042	0.0023	0.0040	0.0021	0.0006	0.0010	0.0007	0	0.0007	0.0004	0.0004	0.0005	0.0004	5.67e-05	0.0081	0.0004	0.0018	0.0007	0.0021	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3818.94	57	chrX	8466005	.	AGAACCACTGAGTCAGGAGAGCCAGGTGGAG	A	3818.94	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.690e+00;DP=843;ExcessHet=0.3300;FS=37.956;InbreedingCoeff=-0.0832;MLEAC=3;MLEAF=0.071;MQ=40.50;MQRankSum=0.706;QD=15.28;ReadPosRankSum=-2.108e+00;SOR=0.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,35:57:99:0|1:8466005_AGAACCACTGAGTCAGGAGAGCCAGGTGGAG_A:1136,0,801:8466005	18	0	3	0
chrX	8795269	8795286	CTGCTGCTGCTGCGGCTT	-	exonic	FAM9A	.	nonframeshift deletion	FAM9A:NM_001171186:exon7:c.623_640del:p.E208_A213del	.	.	450	1068	2	0	2	4	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013245	0.0041	0.0060	0.0088	0.0193	0	0.0015	0	0.0049	0.0018305	283	154602	rs774169916	0.0012	0.0012	0.0013	0.0011	0.0070	0.0012	0.0011	0.0062	0.0059	0.0038	0.0029	5.385e-05	0.0070	8.394e-05	0.0033	0.0007	0.0018	0.0035	0.0024	0.0025	0.0026	0.0018	0.0116	0.0021	0.0020	0.0088	0.0078	0.0039	0	0.0041	0	0.0116	0.0004	0.0046	0.0009	0.0027	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	729.94	65	chrX	8795268	.	GCTGCTGCTGCTGCGGCTT	G	729.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=800;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-8.300e-01;SOR=0.530	GT:AD:DP:GQ:PL	0/1:44,21:65:99:744,0,1741	20	0	1	0
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|1:132,22,0:154:29:0|1:10469688_G_A:29,0,4541,425,4606,5031:10469688	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|1:132,22,0:154:29:0|1:10469688_G_A:29,0,4541,425,4606,5031:10469688	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|1:132,22:154:29:0|1:10469688_G_A:29,0,4541:10469688	8	0	11	2
chrX	12718224	12718224	C	T	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368400:exon15:c.C3278T:p.A1093V	Mental retardation, X-linked 104, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.054	B	0.021	B	0.471	N	1.000	N	0.895	L	3.39	T	-0.938	T	0.012	T	0.107	0.609	7.279	2.48	0.522	1.493	2.349	0.053	0.00380834086709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.134	0.34241	T	0.047	0.21998	B	0.016	0.17743	B	0.470653	0.12282	N	0.762842	1	0.08975	N	1.1	0.28011	L	3.39	0.05710	T	-0.55	0.16799	N	0.124	0.24385	-0.9381	0.42916	T	0.012	0.04605	T	10	0.07210633	0.10720	T	0.003808	0.08899	T	0.053	0.14996	0.071	0.00418	0.0934897674506	0.08844	0.08493248323452295	0.08427	0.129402363924	0.14588	0.355121076107	0.18673	T	0.02072	0.16263	T	-0.456533	0.01033	T	-0.893554	0.00549	T	0.0704419715575141	0.08713	T	0.834817	0.50404	T	0.05376618	0.10221	0.099254824	0.23692	0.05376618	0.10220	0.099254824	0.23692	-4.168	0.26286	T	.	.	0.069	0.03552	B	.;.	.;.	1.120187	0.15057	11.55	0.90321634621286806	0.19587	0.22583	0.21795	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00667970021508641	0.11279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.55	2.48	0.29194	2.115000	0.41544	0.268000	0.16624	-0.243000	0.07376	0.980000	0.35271	0.000000	0.08366	0.937000	0.47636	0.3505:0.4193:0.1239:0.1063	2.349	0.04017	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	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	2231.98	137	chrX	12718224	.	C	T	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.290e-01;DP=852;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.29;ReadPosRankSum=0.586;SOR=0.765	GT:AD:DP:GQ:PL	0/1:52,85:137:99:2246,0,1235	20	0	1	0
chrX	18783953	18783953	A	G	exonic	PPEF1	.	nonsynonymous SNV	PPEF1:NM_001377994:exon8:c.A622G:p.I208V	.	.	432	1087	1	2	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.927	P	0.606	P	0.025	N	0.970	D	1.195	L	3.47	T	-1.047	T	0.023	T	0.173	0.356	5.932	2.37	0.559	1.111	11.600	0.055	.	0.0009	0.00397351	0.0030	0.0020	0.0001	0.0002	0	4.173e-05	0	0.0241	0.0028654	443	154602	rs139114772	0.0012	0.0012	0.0009	0.0019	0.0198	0.0011	0.0011	0.0188	0.0184	0.0029	0.0002	0	0	0	0.0012	0.0001	0.0012	0.0198	0.0013	0.0013	0.0011	0.0016	0.0212	0.0011	0.0010	0.0168	0.0152	0.0026	0	0.0003	0	0.0003	0	0	1.881e-05	0.0013	0.0212	0.068	0.37750	T	0.163	0.41913	T	0.178	0.51527	B	0.134	0.50970	B	0.024715	0.26215	N	0.327056	0.969816	0.38754	D	1.37	0.34214	L	3.47	0.05188	T	-0.93	0.24898	N	0.085	0.16168	-1.0472	0.15188	T	0.023	0.09787	T	10	0.009213924	0.00208	T	.	.	.	0.055	0.15663	.	.	0.220282294035	0.21616	0.5834855193303597	0.58277	0.491544495015	0.47843	0.289559006691	0.08858	T	0.441371	0.78593	T	-0.7118	0.00031	T	-0.779633	0.02464	T	0.0327305312076984	0.02427	T	0.718628	0.45664	T	0.18982095	0.40540	0.2190831	0.46635	0.18982095	0.40540	0.2190831	0.46634	-4.45	0.30229	T	.	.	0.066	0.08560	B	.;.;.	.;.;.	0.769400	0.11391	8.006	0.90142149495193125	0.19422	0.74384	0.36388	D	AEFI	.	.	.	.	.	.	.	.	.	8.29222872953695E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0	2.37	0.28337	1.147000	0.31213	0.578000	0.19676	0.691000	0.84096	0.896000	0.31333	0.002000	0.18203	0.614000	0.31742	0.3912:0.6088:0.0:0.0	11.600	0.50254	563	0.71062	Calcineurin-like phosphoesterase domain, ApaH type|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase;.;Calcineurin-like phosphoesterase domain, ApaH type|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1210.98	118	chrX	18783953	.	A	G	1210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e+00;DP=825;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.220e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1225,0,1662	20	0	1	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	1/3:1,41,0,28,0,0,0:70:99:2576,1064,955,2577,1101,2694,1431,0,1598,1600,2577,1101,2694,1598,2694,2577,1101,2694,1598,2694,2694,2577,1101,2694,1598,2694,2694,2694	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	1/3:1,41,0,28,0,0,0:70:99:2576,1064,955,2577,1101,2694,1431,0,1598,1600,2577,1101,2694,1598,2694,2577,1101,2694,1598,2694,2694,2577,1101,2694,1598,2694,2694,2694	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	1/3:1,41,0,28,0,0,0:70:99:2576,1064,955,2577,1101,2694,1431,0,1598,1600,2577,1101,2694,1598,2694,2577,1101,2694,1598,2694,2694,2577,1101,2694,1598,2694,2694,2694	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	1/3:1,41,0,28,0,0,0:70:99:2576,1064,955,2577,1101,2694,1431,0,1598,1600,2577,1101,2694,1598,2694,2577,1101,2694,1598,2694,2694,2577,1101,2694,1598,2694,2694,2694	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	1/3:1,41,0,28,0,0,0:70:99:2576,1064,955,2577,1101,2694,1431,0,1598,1600,2577,1101,2694,1598,2694,2577,1101,2694,1598,2694,2694,2577,1101,2694,1598,2694,2694,2694	8	0	1	0
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:18,0,28,0,0,0,0:46:99:1111,1165,1921,0,756,670,1165,1921,756,1921,1165,1921,756,1921,1921,1165,1921,756,1921,1921,1921,1165,1921,756,1921,1921,1921,1921	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:18,0,28,0,0,0,0:46:99:1111,1165,1921,0,756,670,1165,1921,756,1921,1165,1921,756,1921,1921,1165,1921,756,1921,1921,1921,1165,1921,756,1921,1921,1921,1921	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:18,0,28,0,0,0,0:46:99:1111,1165,1921,0,756,670,1165,1921,756,1921,1165,1921,756,1921,1921,1165,1921,756,1921,1921,1921,1165,1921,756,1921,1921,1921,1921	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:18,0,28,0,0,0,0:46:99:1111,1165,1921,0,756,670,1165,1921,756,1921,1165,1921,756,1921,1921,1165,1921,756,1921,1921,1921,1165,1921,756,1921,1921,1921,1921	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/2:18,0,28,0,0,0,0:46:99:1111,1165,1921,0,756,670,1165,1921,756,1921,1165,1921,756,1921,1921,1165,1921,756,1921,1921,1921,1165,1921,756,1921,1921,1921,1921	7	4	1	0
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K,	.	.	429	1051	29	13	0	55	0.0254984	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.913	P	0.268	B	0.000	D	1.000	D	0.915	L	-0.26	T	-0.860	T	0.193	T	0.397	1.569	11.20	4.97	2.472	1.621	16.094	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4689.66	166	chrX	44232585	.	C	T	4689.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.627;DP=928;ExcessHet=0.0000;FS=0.955;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.560;SOR=0.721	GT:AD:DP:GQ:PL	0/1:99,67:166:99:1503,0,2278	19	1	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.081	B	0.006	B	0.033	N	0.592	D	0.975	L	2.36	T	-1.075	T	0.033	T	0.372	3.606	18.35	4.5	1.032	4.104	10.422	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	316.45	92	chrX	49039321	.	G	A	316.45	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.018e+00;DP=1222;ExcessHet=0.6776;FS=177.302;InbreedingCoeff=-0.1672;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.84;ReadPosRankSum=-3.700e-02;SOR=10.330	GT:AD:DP:GQ:PL	0/1:61,31:92:99:109,0,854	14	0	4	3
chrX	55013527	55013527	G	A	exonic	ALAS2	.	nonsynonymous SNV	ALAS2:NM_001037967:exon9:c.C1448T:p.P483L	Anemia, sideroblastic, 1, X-linked recessive;Protoporphyria, erythropoietic, X-linked, X-linked dominant	.	1	1500	14	7	0	28	0.00924703	.	.	212027	X-linked_sideroblastic_anemia_1|not_provided|not_specified	MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	1.27	L	-2.54	D	0.640	D	0.748	D	0.927	4.401	23.3	5.39	2.411	8.062	17.186	0.895	0.479974940484	0.0008	0.000264901	0.0014	0.0002	0.0002	0	0.0014	0.0020	0.0017	0.0015	0.0013583	210	154602	rs201062903	0.0017	0.0017	0.0017	0.0017	0.0034	0.0017	0.0016	0.0020	0.0019	0.0002	0.0001	0.0001	0	0.0009	0.0034	0.0020	0.0013	0.0017	0.0012	0.0012	0.0014	0.0009	0.0022	0.0011	0.0010	0.0018	0.0017	0.0003	0	0.0003	0	0	0.0008	0	0.0022	0.0013	0.0008	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.7	0.18542	N	-2.54	0.89496	D	-8.78	0.97757	D	0.315	0.35727	0.640	0.92423	D	0.748	0.91398	D	10	0.22618556	0.39467	T	0.479975	0.94825	D	0.895	0.97022	.	.	0.964229165677	0.96384	0.920621072001771	0.92038	1.41697840939	0.85536	0.682381749153	0.64610	T	0.835118	0.96101	D	0.21438	0.75244	D	0.531487	0.95250	D	0.0939693889100236	0.11681	T	0.995663	0.98468	D	0.9384482	0.95089	0.96024287	0.98984	0.96490896	0.97770	0.9564598	0.98777	-13.116	0.89834	D	0.667831103804872	0.74231	0.816	0.78711	P	.;.;.;.	.;.;.;.	4.757443	0.76885	26.6	0.99873284018896535	0.95076	0.97902	0.77993	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999998564963	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	5.39	0.77615	8.190000	0.89672	11.805000	0.96765	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.186	0.86748	104	0.95701	.;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;.	.	.	.	.	.	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	1013.98	89	chrX	55013527	.	G	A	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=780;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=2.03;SOR=0.765	GT:AD:DP:GQ:PL	0/1:51,38:89:99:1028,0,1214	20	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:119,540:659:99:16355,0,1376	0	6	15	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	0/1:143,323:466:99:9389,0,2686	0	1	20	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S	.	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.988	D	0.986	D	0.181	N	1.000	N	-0.08	N	1.06	T	-1.010	T	0.074	T	0.096	-0.199	3.032	0.436	0.049	0.532	2.954	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	12630.32	397	chrX	55146242	.	C	T	12630.32	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.806;DP=9077;ExcessHet=3.5521;FS=0.686;InbreedingCoeff=-0.2394;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=0.420;SOR=0.625	GT:AD:DP:GQ:PL	0/1:338,59:397:99:588,0,11810	13	0	8	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	0/1:147,198:345:99:5075,0,3935	0	1	20	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	0/1:123,155:278:99:3776,0,2907	0	1	20	0
chrX	57594011	57594011	T	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.T1963A:p.S655T,	.	.	461	1006	39	16	0	71	0.0340855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.982	D	0.952	D	0.001	D	0.645	D	1.63	L	2.89	T	-1.018	T	0.056	T	0.212	0.219	5.180	3.77	1.520	1.474	9.871	0.068	.	.	0.00476821	0.0102	0.0005	0.0021	0	0.0026	0.0124	0.0074	0.0266	0.000414	64	154602	rs200727091	0.0080	0.0079	0.0076	0.0088	0.0217	0.0078	0.0078	0.0179	0.0175	0.0012	0.0022	0.0024	3.422e-05	0.0024	0.0217	0.0084	0.0071	0.0189	0.0054	0.0055	0.0056	0.0045	0.0154	0.0050	0.0048	0.0110	0.0095	0.0009	0	0.0033	0.0020	0	0.0023	0.0051	0.0087	0.0056	0.0154	0.072	0.34982	T	0.259	0.23097	T	0.982	0.60036	D	0.952	0.69102	D	0.000935	0.41028	D	0.214546	0.645411	0.32914	D	2.69	0.78713	M	2.89	0.10196	T	-1.29	0.32387	N	0.057	0.02861	-1.0177	0.24463	T	0.056	0.23450	T	10	0.003385067	0.00059	T	.	.	.	0.068	0.19811	.	.	0.271610670623	0.26767	0.13645945271760762	0.13569	1.06917988701	0.76748	0.664134502411	0.62000	T	0.015966	0.13288	T	-0.689409	0.00042	T	-0.750091	0.03482	T	0.0196635630188806	0.00669	T	0.638236	0.25169	T	0.16438235	0.36641	0.20183867	0.44182	0.16438235	0.36641	0.20183867	0.44181	-3.943	0.22948	T	.	.	0.070	0.03552	B	.	.	1.238939	0.16346	12.48	0.96316169248732064	0.29397	0.43791	0.27176	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999977116689479	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77	3.77	0.42499	0.791000	0.26577	0.064000	0.14171	0.605000	0.46263	0.664000	0.28295	0.001000	0.17328	0.330000	0.25202	0.0:0.0:0.0:1.0	9.871	0.40341	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1737.12	54	chrX	57594011	.	T	A	1737.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.724e+00;DP=743;ExcessHet=0.1072;FS=1.636;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=30.21;MQRankSum=0.103;QD=15.94;ReadPosRankSum=1.45;SOR=0.495	GT:AD:DP:GQ:PL	0/1:21,33:54:99:941,0,529	19	0	2	0
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/1:0,14,0,0,0,0,0:21:47:527,47,0,539,48,577,539,48,577,577,539,48,577,577,577,539,48,577,577,577,577,539,48,577,577,577,577,577	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	1/1:0,14,0,0,0,0,0:21:47:527,47,0,539,48,577,539,48,577,577,539,48,577,577,577,539,48,577,577,577,577,539,48,577,577,577,577,577	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	1/1:0,14,0,0,0,0,0:21:47:527,47,0,539,48,577,539,48,577,577,539,48,577,577,577,539,48,577,577,577,577,539,48,577,577,577,577,577	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	1/1:0,14,0,0,0,0,0:21:47:527,47,0,539,48,577,539,48,577,577,539,48,577,577,577,539,48,577,577,577,577,539,48,577,577,577,577,577	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	1/1:0,14,0,0,0,0,0:21:47:527,47,0,539,48,577,539,48,577,577,539,48,577,577,577,539,48,577,577,577,577,539,48,577,577,577,577,577	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	0/1:79,7,0:86:56:56,0,3257,294,3279,3573	14	0	6	0
chrX	100664867	100664867	C	T	exonic	SRPX2	.	nonsynonymous SNV	SRPX2:NM_014467:exon5:c.C449T:p.S150F,	.	.	0	1518	3	1	0	5	0.0016442	.	.	377656	not_provided|not_specified|Rolandic_epilepsy,_intellectual_disability,_and_speech_dyspraxia,_X-linked	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010388,MedGen:C1845070,OMIM:300643	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.127	B	0.083	B	0.154	N	1.000	N	1.435	L	-0.14	T	-0.950	T	0.163	T	0.357	1.946	12.47	4.73	1.073	0.220	4.878	0.163	0.0627504952078	9.5e-05	0.000264901	0.0005	0	0.0021	0	0	0.0004	0.0022	0	0.0003816	59	154602	rs373847965	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0008	0.0007	0	0.0011	0.0026	0	0	0.0012	7.368e-05	0.0006	9.322e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	7.683e-05	0	0	0.0002	0.0034	0.0003	0	0.0046	0.0002	0.0013	0	0.006	0.61437	D	0.014	0.62352	D	0.127	0.26966	B	0.083	0.29179	B	0.153935	0.17877	N	0.640667	0.999869	0.19989	N	1.505	0.38159	L	-0.14	0.65006	T	-3.53	0.68532	D	0.406	0.44666	-0.9503	0.40920	T	0.163	0.49914	T	9	0.013480395	0.00286	T	0.06275	0.68752	D	0.163	0.42028	.	.	0.453355646836	0.44958	0.42525068722281834	0.42442	0.184939252343	0.20789	0.342217087746	0.16769	T	0.138167	0.47150	T	-0.408549	0.02032	T	-0.433743	0.29512	T	0.0382147423945748	0.03370	T	0.370463	0.27458	T	0.39711672	0.60532	0.31958395	0.57919	0.39748743	0.60559	0.36123332	0.61550	-7.463	0.57350	T	0.13554341919651686	0.14741	0.128	0.45581	B	.;.;.	.;.;.	2.334736	0.29912	18.27	0.99433455512851532	0.64374	0.10539	0.16018	N	AEFBI	.	.	.	.	.	.	.	.	.	0.974002754219583	0.29504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	4.73	0.59485	0.285000	0.18642	4.736000	0.44580	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.1545:0.6127:0.1462:0.0866	4.878	0.13023	30	0.98208	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	3155.98	259	chrX	100664867	.	C	T	3155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1078;ExcessHet=0.0000;FS=1.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.471e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/1:137,122:259:99:3170,0,3497	20	0	1	0
chrX	101625115	101625115	G	C	exonic	ARMCX3	.	nonsynonymous SNV	ARMCX3:NM_016607:exon5:c.G136C:p.V46L	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.207	B	0.064	B	0.599	N	0.998	N	0	N	1.85	T	-0.994	T	0.027	T	0.171	0.756	8.005	-0.409	-0.220	0.929	7.285	0.084	0.0424876158727	0.0005	.	0.0007	0	0.0001	0	0	0.0011	0.0034	0.0003	0.0006015	93	154602	rs138397719	0.0006	0.0006	0.0006	0.0006	0.0105	0.0006	0.0005	0.0080	0.0071	0.0002	0.0001	0.0143	0	0	0.0105	0.0003	0.0014	0.0002	0.0007	0.0007	0.0008	0.0004	0.0006	0.0006	0.0005	0.0002	0.0002	6.473e-05	0	0.0006	0.0158	0	0	0.0229	0.0004	0.0007	0	0.087	0.34269	T	0.403	0.29442	T	0.207	0.29891	B	0.064	0.27215	B	0.599039	0.10976	N	0.789182	0.997975	0.22416	N	0	0.06538	N	1.85	0.24472	T	-0.86	0.23372	N	0.044	0.01658	-0.9943	0.31485	T	0.027	0.11618	T	10	0.0060646236	0.00136	T	0.042488	0.60489	D	0.084	0.24469	0.185	0.09388	0.857571863565	0.85619	0.33212131245780385	0.33125	0.906011426275	0.70849	0.416168957949	0.27309	T	0.013736	0.11823	T	-0.575816	0.00204	T	-0.744887	0.03688	T	0.0170716625466473	0.00454	T	0.715628	0.32820	T	0.1546444	0.34992	0.14825931	0.35053	0.1546444	0.34991	0.14825931	0.35053	-3.668	0.18847	T	.	.	0.124	0.26074	B	.;.;.;.;.	.;.;.;.;.	1.731061	0.22032	15.45	0.90981191034055819	0.20231	0.55822	0.29961	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999609715831612	0.40866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	-0.409	0.11761	0.937000	0.28549	3.658000	0.39398	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.5642:0.0:0.4358:0.0	7.285	0.25507	124	0.95048	.;.;.;.;.	.	.	.	.	.	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	1562.98	113	chrX	101625115	.	G	C	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=807;ExcessHet=0.0000;FS=1.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-4.400e-01;SOR=0.930	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1577,0,1331	20	0	1	0
chrX	115189943	115189943	T	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.T502C:p.S168P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.023	B	0.006	B	.	.	1.000	N	1.47	L	3.71	T	-0.969	T	0.013	T	0.411	1.192	9.845	1.45	0.824	0.830	3.317	0.079	0.000946627240684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.57e-07	9.107e-07	0	2.951e-06	2.035e-05	0	0	.	.	0	0	0	0	0	0	0	0	2.035e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.65728	D	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.999988	0.18198	N	1.61	0.41143	L	3.71	0.04046	T	-3.26	0.65397	D	0.091	0.06990	-0.9689	0.37427	T	0.013	0.05177	T	9	0.070482016	0.10259	T	9.47E-4	0.00957	T	0.079	0.23065	0.266	0.21261	0.0297737177859	0.01360	0.054083920078093886	0.05350	.	.	0.459369540215	0.33223	T	0.037882	0.24637	T	-0.294642	0.09175	T	-0.661009	0.08198	T	0.399948507547379	0.28940	T	0.371663	0.08799	T	0.30152363	0.53041	0.3255212	0.58466	0.30152363	0.53041	0.3255212	0.58466	-2.846	0.08615	T	.	.	0.215	0.44423	B	.	.	1.860158	0.23626	16.09	0.94939257910074104	0.25832	0.00626	0.02758	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0196493147803913	0.13182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.45	1.45	0.21708	0.151000	0.16101	4.103000	0.41875	0.358000	0.20042	0.002000	0.15269	0.991000	0.31484	0.000000	0.00833	0.3725:0.0:0.0:0.6275	3.317	0.06626	937	0.14592	.	.	.	.	.	.	Uncertain significance	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	1708.98	121	chrX	115189943	.	T	C	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.890e+00;DP=1012;ExcessHet=0.0000;FS=8.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-2.070e-01;SOR=0.339	GT:AD:DP:GQ:PL	0/1:52,69:121:99:1723,0,1334	20	0	1	0
chrX	129540745	129540745	C	T	exonic	OCRL	.	nonsynonymous SNV	OCRL:NM_000276:exon2:c.C41T:p.T14I	Dent disease 2, X-linked recessive;Lowe syndrome, X-linked recessive	.	2	1515	3	2	0	7	0.00230491	.	.	135296	not_specified|Lowe_syndrome|Nephrolithiasis/nephrocalcinosis|not_provided	MedGen:CN169374|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphanet:534|MedGen:CN580796|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.001	B	0.899	N	0.545	D	0.55	N	-3.44	D	-0.013	T	0.583	D	0.281	2.468	14.21	3.68	0.892	1.863	6.914	0.231	.	0.0037	0.0018543	0.0053	0.0009	0.0022	0	0.0147	0.0072	0.0097	0.0022	0.0052522	812	154602	rs61752970	0.0071	0.0071	0.0072	0.0068	0.0079	0.0070	0.0069	0.0077	0.0077	0.0007	0.0020	0.0012	0	0.0172	0.0010	0.0079	0.0053	0.0017	0.0048	0.0052	0.0050	0.0045	0.0075	0.0045	0.0043	0.0069	0.0066	0.0012	0	0.0017	0.0008	0	0.0131	0	0.0075	0.0020	0.0012	0.018	0.50676	D	0.335	0.18286	T	0.0	0.02946	B	0.0	0.04355	B	0.899061	0.07343	N	1.053830	0.545181	0.32087	D	1.04	0.26193	L	-3.45	0.94469	D	-0.67	0.19297	N	0.155	0.42443	-0.0126	0.81994	T	0.583	0.85021	D	10	0.0047611	0.00101	T	.	.	.	0.231	0.53208	.	.	0.74689369608	0.74461	0.6776998863586694	0.67708	0.273309695446	0.29829	0.756409645081	0.75395	T	0.337755	0.70710	T	-0.324311	0.06550	T	-0.232087	0.51570	T	0.00519365265971893	0.00056	T	0.407759	0.10493	T	0.060607925	0.12455	0.118886776	0.28697	0.058006927	0.11615	0.1062749	0.25562	-3.784	0.20566	T	.	.	0.152	0.41295	B	.;.	.;.	3.236887	0.44165	21.9	0.99168746029182175	0.54326	0.37433	0.25761	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999998703004551	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.56	3.68	0.41359	2.144000	0.41821	0.775000	0.21430	0.599000	0.40250	0.988000	0.36536	0.984000	0.30665	0.996000	0.76049	0.0:0.8694:0.0:0.1306	6.914	0.23532	253	0.90069	OCRL1, PH domain;OCRL1, PH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1521.98	95	chrX	129540745	.	C	T	1521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.358e+00;DP=785;ExcessHet=0.0000;FS=8.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.02;ReadPosRankSum=1.01;SOR=0.183	GT:AD:DP:GQ:PL	0/1:36,59:95:99:1536,0,979	20	0	1	0
chrX	135577251	135577251	G	A	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon14:c.G1832A:p.R611H	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.996	D	0.781	P	0.032	N	1.000	D	2.395	M	1.31	T	-0.741	T	0.194	T	0.254	5.291	33	5.2	2.316	4.686	17.027	0.083	0.587860412956	.	0.000264901	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs185499443	2.003e-05	2.003e-05	2.314e-05	1.375e-05	0.0002	1.311e-05	1.12e-05	1.254e-05	1.005e-05	7.575e-05	0	0	0	0	0.0002	2.019e-05	4.339e-05	0	3.59e-05	3.481e-05	3.857e-05	2.971e-05	6.534e-05	1.138e-05	6.65e-06	1.082e-05	4.05e-06	6.534e-05	0	0	0	0	0	0	3.768e-05	0	0	0.003	0.68238	D	0.039	0.51112	D	0.996	0.68779	D	0.781	0.57337	P	0.031570	0.25149	N	0.480270	0.999794	0.49177	D	.	.	.	1.31	0.35405	T	-3.57	0.68999	D	0.061	0.03283	-0.7410	0.58401	T	0.194	0.54782	T	10	0.26232415	0.43699	T	0.58786	0.96329	D	0.083	0.24192	.	.	0.663804669403	0.66098	0.4401763402996682	0.43934	1.49335097258	0.86919	0.387561738491	0.23326	T	0.156609	0.49886	T	-0.187442	0.22636	T	-0.507024	0.21621	T	0.975002527236938	0.70747	D	0.883212	0.61387	D	0.39518315	0.60397	0.42923293	0.66611	0.39518315	0.60398	0.42923293	0.66612	-7.054	0.54427	T	.	.	0.384	0.58640	A	.;.	.;.	3.993854	0.58801	24.0	0.99929015604374327	0.99279	0.97042	0.72354	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999558204	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2	5.2	0.71720	4.797000	0.62197	8.754000	0.78223	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.027	0.86324	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1402.98	97	chrX	135577251	.	G	A	1402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=797;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.979;SOR=0.849	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1417,0,993	20	0	1	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	0/1:44,19:74:10:10,0,819	5	0	16	0
chrX	140092442	140092442	C	G	exonic	LOC389895	.	nonsynonymous SNV	LOC389895:NM_001271560:exon1:c.C700G:p.P234A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021737324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	2017.98	173	chrX	140092442	.	C	G	2017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.020e-01;DP=899;ExcessHet=0.0000;FS=1.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-5.300e-02;SOR=0.771	GT:AD:DP:GQ:PL	0/1:89,84:173:99:2032,0,2311	20	0	1	0
chrX	141906299	141906299	-	CCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG	exonic	MAGEC1	.	nonframeshift insertion	MAGEC1:NM_005462:exon4:c.895_896insCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG:p.S308_S309insCSFSSTLLSIFQSSPERTQSTFEGFAQSPLQIPVS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.339e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1249.62	210	chrX	141906299	.	C	CCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG,*	1249.62	.	AC=1,2;AF=0.033,0.067;AN=30;DP=3370;ExcessHet=0.0000;FS=6.080;InbreedingCoeff=0.4852;MLEAC=1,3;MLEAF=0.033,0.100;MQ=57.92;MQRankSum=-5.392e+00;QD=4.18;ReadPosRankSum=-1.121e+01;SOR=1.004	GT:AD:DP:GQ:PL	0/1:147,63,0:210:99:1261,0,4233,1647,4422,6069	13	0	1	6
chrX	141906299	141906299	C	0	exonic	MAGEC1	.	.	.	.	.	489	914	50	25	44	144	0.0518672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1249.62	210	chrX	141906299	.	C	CCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG,*	1249.62	.	AC=1,2;AF=0.033,0.067;AN=30;DP=3370;ExcessHet=0.0000;FS=6.080;InbreedingCoeff=0.4852;MLEAC=1,3;MLEAF=0.033,0.100;MQ=57.92;MQRankSum=-5.392e+00;QD=4.18;ReadPosRankSum=-1.121e+01;SOR=1.004	GT:AD:DP:GQ:PL	0/1:147,63,0:210:99:1261,0,4233,1647,4422,6069	13	0	1	6
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	1/1:0,325,0:325:99:.:.:9726,972,0,9726,972,9726	4	11	2	2
chrX	150776289	150776289	C	A	exonic	CD99L2	.	nonsynonymous SNV	CD99L2:NM_001184808:exon6:c.G321T:p.M107I	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	B	0.008	B	0.187	N	1.000	N	0.92	L	2.06	T	-1.004	T	0.029	T	0.073	0.984	9.016	0.568	0.055	0.149	5.072	0.012	0.00656464594489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.165e-07	9.105e-07	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	0.18626	T	0.125	0.36101	T	0.006	0.13644	B	0.008	0.13708	B	0.186738	0.16956	N	0.615171	1	0.08975	N	1.975	0.53506	M	2.06	0.20523	T	-0.92	0.26639	N	0.085	0.07949	-1.0042	0.28696	T	0.029	0.12365	T	9	0.0655331	0.08856	T	0.006565	0.17301	T	0.012	0.01476	0.177	0.08379	0.44153150616	0.43777	0.09619622545309664	0.09551	0.153515686927	0.17316	0.304084420204	0.11013	T	0.021182	0.16539	T	-0.502822	0.00551	T	-0.960045	0.00232	T	0.0864372700452805	0.10789	T	0.431557	0.16283	T	0.10293985	0.24327	0.10690304	0.25727	0.10293985	0.24327	0.10690304	0.25726	-6.624	0.53676	T	.	.	0.186	0.45273	B	.;.;.;.;.	.;.;.;.;.	0.817247	0.11882	8.449	0.61413628639531503	0.06703	0.13155	0.17695	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.930385913178787	0.27006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	0.568	0.16518	0.133000	0.15736	0.470000	0.18703	-0.202000	0.08738	0.000000	0.06391	0.014000	0.20376	0.083000	0.17415	0.1368:0.523:0.0:0.3401	5.072	0.13948	877	0.30165	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	762.98	56	chrX	150776289	.	C	A	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=739;ExcessHet=0.0000;FS=2.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=0.673;SOR=1.059	GT:AD:DP:GQ:PL	0/1:29,27:56:99:777,0,710	20	0	1	0
chrX	154776816	154776816	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1479_1480insAAG:p.K500_A501insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	1	1335	119	53	14	239	0.0777202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3716.36	93	chrX	154776813	.	CAAG	C,CAAGAAG	3716.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.985;DP=967;ExcessHet=0.3300;FS=2.012;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-5.560e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/2:41,0,52:93:99:2044,2167,3889,0,1722,1565	18	0	1	0