Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES977	WT	HH	HZ	NC
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C	.	377	1075	66	4	0	74	0.0332734	.	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder|not_provided	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	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	0.016871	0.010638	0.015068	0.026316	0.000000	0.034483	0.018868	0.019084	0.07895	2220.79	36	chr1	1214100	.	G	A	2220.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.974;DP=760;ExcessHet=0.3672;FS=5.091;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.541;SOR=0.691	GT:AD:DP:GQ:PL	0/1:24,31:55:99:791,0,502	16	0	3	0
chr1	1916513	1916513	G	A	exonic	CALML6	.	nonsynonymous SNV	CALML6:NM_001330313:exon2:c.G100A:p.G34R,CALML6:NM_138705:exon3:c.G151A:p.G51R	.	417	1093	11	1	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	.	7.7e-05	0.000998403	0.0030	0	0.0019	0	0	0.0011	0.0043	0.0116	0.0012872	199	154602	rs140177117	0.0009	0.0009	0.0006	0.0012	0.0087	0.0009	0.0008	0.0082	0.0080	3.009e-05	0.0003	0.0063	2.546e-05	0	0.0040	0.0002	0.0015	0.0087	0.0006	0.0006	0.0004	0.0007	0.0048	0.0005	0.0004	0.0033	0.0028	0.0003	0	0.0005	0.0069	0	0	0	0.0003	0	0.0048	0.02	0.54683	D	0.013	0.63109	D	0.995	0.67487	D	0.64	0.52082	P	.	.	.	.	0.999912	0.19599	N	3.8	0.95404	H	-2.11	0.86216	D	-5.9	0.88839	D	0.504	0.56748	-0.0940	0.80236	T	0.688	0.89231	D	9	0.0066946745	0.00152	T	.	.	.	0.293	0.61272	0.578	0.70347	0.854125965873	0.85272	.	.	0.326689800215	0.34810	0.517190814018	0.41231	T	0.297401	0.67001	T	-0.301817	0.08490	T	-0.200201	0.54628	T	0.150516118185588	0.17144	T	0.819918	0.47811	T	0.3739854	0.58878	0.25833997	0.51565	0.3739854	0.58878	0.25833997	0.51564	-7.92	0.60524	D	.	.	0.353	0.56760	A	.;.	.;.	3.613304	0.51099	23.0	0.99681778951233191	0.79307	0.74802	0.36602	D	AEFBI	0.408951	0.48042	N	0.143892174596057	0.48522	3.063538	-0.0857529488882619	0.35979	2.088059	0.919996559626021	0.26618	0.660377	0.49826	0	0.610034	0.51514	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	2.23	0.175	0.14330	3.014000	0.49278	1.138000	0.24381	0.618000	0.50648	0.998000	0.41325	0.694000	0.26193	0.594000	0.31239	0.3417:0.0:0.6583:0.0	4.719	0.12288	917	0.20147	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain|EF-hand 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	0.006079	0.005102	0.002725	0.014706	0.000000	0.000000	0.009202	0.007634	0.02632	1753.33	143	chr1	1916513	.	G	A	1753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=1672;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.175;SOR=0.754	GT:AD:DP:GQ:PL	0/1:89,70:159:99:1767,0,2224	18	0	1	0
chr1	6468543	6468543	C	G	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon20:c.G2293C:p.E765Q,PLEKHG5:NM_001042665:exon20:c.G2293C:p.E765Q,PLEKHG5:NM_001265593:exon20:c.G2500C:p.E834Q,PLEKHG5:NM_001265594:exon20:c.G2293C:p.E765Q,PLEKHG5:NM_020631:exon20:c.G2293C:p.E765Q,PLEKHG5:NM_001042663:exon21:c.G2404C:p.E802Q,PLEKHG5:NM_001265592:exon21:c.G2404C:p.E802Q,PLEKHG5:NM_198681:exon21:c.G2293C:p.E765Q	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	589392	Charcot-Marie-Tooth_disease_recessive_intermediate_C|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4|not_provided	MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867|MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0532090469457	.	0.000798722	0.0001	0	0	0	0	0	0	0.0008	0.00011	17	154602	rs532817130	5.408e-05	5.404e-05	3.133e-05	7.706e-05	0.0009	4.413e-05	4.085e-05	0.0007	0.0007	0	0	0	0	0	0	8.993e-07	4.969e-05	0.0009	3.941e-05	3.937e-05	2.571e-05	5.373e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.04	0.42199	D	0.028	0.54934	D	0.029	0.20614	B	0.018	0.20792	B	0.000175	0.48594	N	0.209276	0.97668	0.81001	D	1.83	0.48079	L	-0.55	0.71068	T	-1.29	0.34198	N	0.078	0.08506	-0.7292	0.59004	T	0.215	0.57679	T	10	0.017491132	0.00374	T	0.053209	0.65376	D	0.065	0.18881	0.287	0.24601	0.516770950016	0.51320	0.2880013141973609	0.28713	0.288772556324	0.31287	0.429619342089	0.29156	T	0.255835	0.62667	T	-0.32334	0.06627	T	-0.306055	0.44081	T	0.0668211082908482	0.08197	T	0.790821	0.43180	T	0.096849866	0.22820	0.07662659	0.16989	0.096849866	0.22820	0.07662659	0.16989	-8.813	0.66485	D	.	.	0.124	0.26042	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.561181	0.33167	19.26	0.99073816667642034	0.51786	0.93582	0.58611	D	AEFDBCI	0.612012	0.60024	D	-0.311785949027818	0.28699	1.58517	-0.172004657903849	0.32571	1.854406	0.999997380639552	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.48	4.55	0.55429	4.000000	0.56751	4.820000	0.45111	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.087000	0.17632	0.0:0.855:0.145:0.0	14.825	0.69737	835	0.38313	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1637.33	38	chr1	6468543	.	C	G	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=801;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.034;SOR=0.664	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1651,0,1613	18	0	1	0
chr1	11042883	11042883	G	A	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon6:c.C881T:p.T294M	MASP2 deficiency, Autosomal recessive	0	1472	50	0	0	50	0.0167001	.	.	.	731568	not_provided|Immunodeficiency_due_to_MASP-2_deficiency|MASP2-related_disorder	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.053	.	0.0028	0.00459265	0.0063	0.0021	0.0007	0	0.0251	0.0047	0.0133	0.0147	0.005705	882	154602	rs139962539	0.0055	0.0055	0.0051	0.0059	0.0159	0.0054	0.0054	0.0152	0.0149	0.0017	0.0011	0.0008	2.519e-05	0.0248	0.0104	0.0044	0.0052	0.0159	0.0055	0.0056	0.0040	0.0072	0.0143	0.0052	0.0051	0.0116	0.0106	0.0020	0.0022	0.0018	0.0006	0.0004	0.0326	0	0.0044	0.0043	0.0143	0.037	0.43085	D	0.008	0.67890	D	0.037	0.20876	B	0.028	0.21332	B	0.661655	0.10422	N	0.807051	0.825838	0.28824	N	2.015	0.55033	M	1.93	0.22881	T	-3.03	0.62747	D	0.17	0.18103	-0.9860	0.33590	T	0.035	0.15247	T	10	0.005970478	0.00134	T	.	.	.	0.053	0.14996	.	.	0.124217242631	0.12060	0.5123346054005095	0.51155	0.0407694351807	0.04372	0.255066126585	0.04321	T	0.167891	0.51469	T	-0.611316	0.00124	T	-0.638566	0.09773	T	0.0146837639690297	0.00305	T	0.690331	0.29972	T	0.03418397	0.03786	0.09641339	0.22907	0.030420668	0.02701	0.09641339	0.22906	-11.434	0.81985	D	0.4720342199219044	0.55229	0.102	0.18037	B	.	.	2.248819	0.28726	17.89	0.97414839808571385	0.33845	0.15784	0.19080	N	AEFDBI	0.195519	0.32255	N	-0.793140772280534	0.13488	0.6648029	-0.872054223652638	0.12758	0.6581308	0.0132704450316949	0.12441	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.32	-3.97	0.03821	0.362000	0.20020	-0.877000	0.07079	0.613000	0.49114	0.118000	0.23139	0.000000	0.08366	0.993000	0.69303	0.1689:0.2911:0.3291:0.2109	1.868	0.03007	804	0.43891	CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.000000	0.006793	0.011696	0.050000	0.025862	0.012195	0.018939	0.02632	869.33	35	chr1	11042883	.	G	A	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.278;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.217;SOR=0.715	GT:AD:DP:GQ:PL	0/1:28,36:64:99:883,0,684	18	0	1	0
chr1	12283436	12283436	T	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon21:c.T5334A:p.S1778R,VPS13D:NM_018156:exon21:c.T5334A:p.S1778R	.	429	1061	31	1	0	33	0.0153132	.	.	.	1000131	Autosomal_recessive_cerebellar_ataxia-saccadic_intrusion_syndrome|not_provided|VPS13D-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0011811,MedGen:C1846492,OMIM:607317,Orphanet:95434|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00459697818591	0.0015	0.00119808	0.0019	0.0002	0.0004	0	0	0.0022	0.0011	0.0049	0.0019275	298	154602	rs144311414	0.0028	0.0028	0.0028	0.0029	0.0080	0.0028	0.0027	0.0061	0.0055	0.0006	0.0008	0.0010	0	3.744e-05	0.0080	0.0031	0.0022	0.0051	0.0015	0.0015	0.0016	0.0014	0.0062	0.0013	0.0013	0.0045	0.0039	0.0003	0	0.0012	0.0003	0	0	0.0034	0.0024	0	0.0062	.	.	.	0.028	0.54934	D	0.454	0.39027	P	0.079	0.34953	B	0.007065	0.31620	N	0.393442	0.789807	0.29239	N	2.015	0.55033	M	.	.	.	.	.	.	0.428	0.46742	-0.8954	0.48446	T	0.175	0.51816	T	10	0.005638957	0.00125	T	0.004597	0.11377	T	.	.	0.243	0.17677	0.043077524339	0.03247	0.5601176299730201	0.55938	.	.	0.49046677351	0.37504	T	0.099394	0.40416	T	-0.28773	0.09866	T	-0.185128	0.56046	T	0.0150723485041195	0.00326	T	0.892211	0.62852	D	0.08695029	0.20229	0.1291099	0.31051	0.094862394	0.22313	0.11825835	0.28545	-4.533	0.31318	T	0.3851731255117534	0.47907	0.281	0.51394	B	.;.	.;.	2.785098	0.36596	20.3	0.97657268752060011	0.35172	0.97738	0.76776	D	AEFBI	0.286125	0.39858	N	0.123605185959519	0.47566	2.980508	0.203207517300671	0.50025	3.19895	0.979737276432473	0.30060	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.92	4.8	0.61157	1.623000	0.36618	2.363000	0.32383	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.14:0.1392:0.7208	5.967	0.18565	540	0.73006	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.007576	0.05263	3918.83	35	chr1	12283436	.	T	A	3918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.11;DP=960;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.807;SOR=0.706	GT:AD:DP:GQ:PL	0/1:118,86:204:99:2250,0,3072	17	0	2	0
chr1	12825478	12825478	G	-	exonic	PRAMEF11	.	frameshift deletion	PRAMEF11:NM_001146344:exon4:c.901delC:p.L301Sfs*3	.	622	878	18	4	0	26	0.0145903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.00139776	0.0019	0.0002	0.0012	0	0.0006	0.0014	0.0042	0.0066	0.0014165	219	154602	rs368447714	0.0089	0.0090	0.0085	0.0093	0.0193	0.0087	0.0086	0.0184	0.0181	0.0016	0.0048	0.0078	5.752e-05	0.0035	0.0140	0.0090	0.0094	0.0193	0.0059	0.0063	0.0058	0.0061	0.0136	0.0056	0.0054	0.0105	0.0094	0.0014	0.0070	0.0065	0.0047	0	0.0032	0.0216	0.0088	0.0066	0.0136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007618	0.000000	0.004412	0.005102	0.000000	0.000000	0.014151	0.019048	0.05263	785.82	8	chr1	12825477	.	AG	A	785.82	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.086;DP=405;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0565;MLEAC=2;MLEAF=0.053;MQ=30.52;MQRankSum=1.29;QD=15.11;ReadPosRankSum=0.263;SOR=0.492	GT:AD:DP:GQ:PL	0/1:15,15:30:99:472,0,471	17	0	2	0
chr1	13115686	13115686	C	-	exonic	HNRNPCL2	.	frameshift deletion	HNRNPCL2:NM_001136561:exon2:c.715delG:p.E239Sfs*31	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	8.645e-05	0.0001	0	0	0.0011	0.0040	0.0004463	69	154602	rs775469341	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	2.991e-05	0	0	2.519e-05	0	0.0002	3.597e-06	0.0002	0.0041	0.0001	0.0001	6.445e-05	0.0002	0.0039	9.173e-05	7.725e-05	0.0026	0.0021	0	0	0	0	0	0	0	2.942e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	3047.29	33	chr1	13115685	.	TC	T	3047.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.379;DP=1262;ExcessHet=0;FS=3.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.56;MQRankSum=-0.14;QD=13.02;ReadPosRankSum=-1.56;SOR=0.777	GT:AD:DP:GQ:PL	0/1:133,101:234:99:3061,0,4266	18	0	1	0
chr1	16202497	16202497	C	A	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon13:c.G1985T:p.G662V	.	391	1128	3	0	0	3	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.132828007127	.	0.000399361	9.973e-05	0	8.675e-05	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs201415943	8.893e-05	8.893e-05	6.806e-05	0.0001	0.0019	7.622e-05	7.167e-05	0.0011	0.0008	0	6.709e-05	3.826e-05	0	0	0.0019	6.025e-05	0.0001	0.0005	7.876e-05	7.873e-05	7.706e-05	8.053e-05	0.0002	4.492e-05	3.509e-05	7.908e-05	5.994e-05	2.405e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.014	0.53172	D	0.011	0.64786	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-0.06	0.63568	T	-8.06	0.96621	D	0.332	0.37301	-0.3064	0.74806	T	0.372	0.73076	T	10	0.19454846	0.35270	T	0.132828	0.81518	D	0.359	0.67962	.	.	0.765010141717	0.76287	0.6904994707378325	0.68989	1.03404003481	0.75517	0.696405172348	0.66625	T	0.028541	0.20653	T	-0.207163	0.19781	T	-0.224833	0.52270	T	0.894906461238861	0.54637	D	0.90041	0.65400	D	0.830834	0.85960	0.70763934	0.82761	0.830834	0.85962	0.70763934	0.82762	-13.923	0.92804	D	.	.	0.309	0.53709	B	.	.	5.001515	0.82994	27.9	0.99765432124054265	0.85417	0.96881	0.71447	D	AEFDBI	0.700755	0.65767	D	0.664400685243365	0.77304	6.649037	0.637125038177096	0.77655	6.721392	0.999999999630165	0.74766	0.631515	0.41029	0	0.659464	0.62310	0	0.697927	0.64325	0	0.683762	0.67416	0	.	.	4.81	4.81	0.61401	3.217000	0.50886	7.562000	0.60503	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	13.367	0.60130	212	0.91760	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1845.33	43	chr1	16202497	.	C	A	1845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=957;ExcessHet=0;FS=1.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.677;SOR=0.781	GT:AD:DP:GQ:PL	0/1:65,72:137:99:1859,0,1686	18	0	1	0
chr1	16207718	16207718	G	T	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon4:c.C754A:p.P252T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0308913050316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.144	0.33109	T	0.191	0.29411	B	0.1	0.30674	B	0.000483	0.00618	N	16.942600	1	0.08975	N	2.19	0.61577	M	-0.61	0.71779	T	-2.32	0.51478	N	0.135	0.13198	-0.9314	0.43933	T	0.272	0.64380	T	10	0.131641	0.25054	T	0.030891	0.53099	D	0.076	0.22200	0.274	0.22528	0.677873887768	0.67513	0.6203819765472122	0.61971	0.527398812043	0.50347	0.327657163143	0.14581	T	0.006198	0.05637	T	-0.135468	0.30615	T	-0.432367	0.29665	T	0.245755821602851	0.22681	T	0.353365	0.07952	T	0.050499994	0.09131	0.04682699	0.06612	0.050499994	0.09131	0.04682699	0.06611	-4.02	0.24102	T	.	.	0.069	0.03026	B	.	.	1.347479	0.17547	13.23	0.98551960276847506	0.42858	0.13260	0.17755	N	ALL	0.096663	0.19510	N	-0.812224720461571	0.12998	0.6372921	-0.844071386746544	0.13430	0.6966493	0.99999999962794	0.74766	0.714207	0.82060	0	0.475579	0.06741	0	0.648423	0.49468	0	0.444512	0.06955	0	.	.	5.26	3.37	0.37692	1.033000	0.29798	1.715000	0.28221	0.676000	0.76740	0.026000	0.20160	0.969000	0.29651	0.002000	0.04165	0.0942:0.1954:0.7104:0.0	7.139	0.24723	198	0.92335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1392.33	34	chr1	16207718	.	G	T	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.052;DP=1120;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-1.637;SOR=0.803	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1406,0,1220	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:280,171:451:99:.:.:4311,0,8200:.	1	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:387,220:607:99:.:.:5122,0,10446:.	1	0	18	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:295,169:464:99:.:.:3927,0,9466:.	0	0	19	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:355,91:446:99:1742,0,12392	0	0	19	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:273,40:313:99:453,0,7181	7	0	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/1:270,74:344:99:1402,0,8232	10	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1684,144,0	1	7	11	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	6483.37	502	chr1	16760964	.	A	G	6483.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.242;DP=11036;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.29;MQRankSum=-1.517;QD=2.3;ReadPosRankSum=0.031;SOR=0.697	GT:AD:DP:GQ:PL	0/1:295,102:397:99:1897,0,8421	14	0	5	0
chr1	19152467	19152467	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon47:c.C6842T:p.T2281M	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00406380927948	.	0.000199681	0.0002	0	0.0002	0	0	0	0.0022	0.0016	0.0002135	33	154602	rs368120030	0.0001	0.0001	4.765e-05	0.0002	0.0015	8.849e-05	8.334e-05	0.0013	0.0012	0	0	0	0	0	0	6.296e-06	0.0002	0.0015	6.565e-05	6.562e-05	1.285e-05	0.0001	0.0019	3.514e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.102	0.32453	T	.	.	.	0.923	0.51194	P	0.271	0.39904	B	0.000001	0.84330	D	0.055849	0.999977	0.53665	D	0.895	0.22405	L	2.51	0.14284	T	-1.7	0.40468	N	0.372	0.41360	-1.0190	0.24041	T	0.040	0.17149	T	10	0.032751113	0.01433	T	0.004064	0.09681	T	0.135	0.36572	0.286	0.24440	0.043077524339	0.03247	0.3719860059849467	0.37112	0.566655448211	0.52949	0.657429873943	0.61041	T	0.225235	0.58991	T	-0.433249	0.01417	T	-0.414123	0.31751	T	0.140322286503461	0.16303	T	0.966303	0.87634	D	0.07796405	0.17727	0.10409467	0.24993	0.07797805	0.17729	0.09896753	0.23613	-5.535	0.42194	T	.	.	0.091	0.13080	B	.;.	.;.	5.033818	0.83744	28.1	0.9983616438263937	0.91714	0.98921	0.88653	D	AEFGBHI	0.847633	0.76448	D	0.299713621762942	0.56134	3.777764	0.372245962464134	0.59858	4.167473	0.99999999748066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.37	4.46	0.53567	7.300000	0.78169	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.0:0.8615:0.1385	15.625	0.76598	867	0.32089	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	801.33	33	chr1	19152467	.	G	A	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=693;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.158;SOR=0.919	GT:AD:DP:GQ:PL	0/1:42,32:74:99:815,0,1053	18	0	1	0
chr1	20664763	20664763	C	T	splicing	KIF17	NM_001287212:exon15:c.2612-1G>A;NM_001122819:exon15:c.2909-1G>A;NM_020816:exon15:c.2912-1G>A	.	.	.	424	1095	3	0	0	3	0.00136799	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0008	9.675e-05	8.714e-05	0	0	1.509e-05	0	0.0055	0.000718	111	154602	rs576462222	0.0004	0.0004	0.0002	0.0005	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0	0	0	0.0002	3.598e-06	0.0007	0.0062	0.0003	0.0003	0.0001	0.0005	0.0083	0.0002	0.0002	0.0063	0.0055	4.815e-05	0	0	0	0	0	0	1.471e-05	0.0005	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0275931	0.47766	T	0.190061	0.82573	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.757355	0.93411	33	0.99419534178236124	0.63694	0.82333	0.41576	D	AEFDGBI	.	.	.	0.970856035109557	0.94777	13.03053	0.786695470075071	0.88852	9.740966	0.999128856135022	0.38507	0.078448	0.01964	0	0.060609	0.00678	0	0.083675	0.02720	0	0.062806	0.01542	0	0.960897	0.65746	5.21	4.24	0.49486	2.221000	0.42559	7.652000	0.63756	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.840000	0.39645	0.0:0.8361:0.1639:0.0	12.958	0.57841	760	0.50470	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	860.33	35	chr1	20664763	.	C	T	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.036;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.8;SOR=0.622	GT:AD:DP:GQ:PL	0/1:37,35:72:99:874,0,1004	18	0	1	0
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:26282278_C_T:2450,169,0:26282278	5	4	4	6
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:26282278_C_T:2450,169,0:26282278	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:26282278_C_T:2450,169,0:26282278	7	4	5	3
chr1	27548749	27548749	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G3367A:p.A1123T,AHDC1:NM_001371928:exon8:c.G3367A:p.A1123T	Xia-Gibbs syndrome, Autosomal dominant	298	1223	1	0	0	1	0.000408664	.	.	.	1290852	AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome|not_provided	MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.164	0.00624511785642	.	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0014	0.0002264	35	154602	rs534403874	0.0001	0.0001	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	2.987e-05	2.236e-05	0	0	0	0.0010	8.004e-05	0.0001	0.0013	9.846e-05	9.842e-05	0.0001	8.054e-05	0.0008	6.001e-05	4.875e-05	0.0003	0.0002	2.405e-05	0	6.536e-05	0	0	0	0.0034	0.0001	0	0.0008	0.154	0.24277	T	0.164	0.31026	T	0.046	0.21875	B	0.034	0.22546	B	0.000699	0.42383	D	0.090873	0.999037	0.45921	D	0.345	0.11182	N	0.68	0.51952	T	-0.41	0.14000	N	0.263	0.30004	-1.0578	0.12311	T	0.080	0.31586	T	10	0.017439753	0.00372	T	0.006245	0.16376	T	0.164	0.42212	0.216	0.13643	0.523447128704	0.51990	0.33549067145994144	0.33462	1.20852012436	0.80762	0.562551438808	0.47628	T	0.033242	0.22831	T	-0.275671	0.11131	T	-0.219199	0.52814	T	0.0440016501925001	0.04421	T	0.717128	0.32987	T	0.049711432	0.08869	0.06652893	0.13640	0.049711432	0.08868	0.06652893	0.13640	-3.674	0.18935	T	.	.	0.093	0.14201	B	.;.;.;.;.	.;.;.;.;.	3.323944	0.45731	22.2	0.99735740615581514	0.83119	0.79323	0.39285	D	AEFDBI	0.168484	0.29525	N	-0.0302622557751789	0.40488	2.405322	0.195562633947806	0.49602	3.161548	0.999999998012763	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	2.946000	0.48742	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8454:0.0:0.1546	9.139	0.36052	421	0.81399	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2078.33	36	chr1	27548749	.	C	T	2078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.193;DP=838;ExcessHet=0;FS=4.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.165;SOR=1.032	GT:AD:DP:GQ:PL	0/1:94,83:177:99:2092,0,2404	18	0	1	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	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	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.07895	2793.79	38	chr1	29275715	.	G	T	2793.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.813;DP=793;ExcessHet=0.3672;FS=1.161;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.061;SOR=0.57	GT:AD:DP:GQ:PL	0/1:42,34:76:99:894,0,1154	16	0	3	0
chr1	32363943	32363943	T	C	exonic	TSSK3	.	nonsynonymous SNV	TSSK3:NM_052841:exon2:c.T494C:p.L165P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.057208995812	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs758007232	1.026e-05	1.026e-05	4.084e-06	1.65e-05	0.0002	6.16e-06	4.89e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.024	0.56640	D	0.762	0.43602	P	0.621	0.51426	P	0.000169	0.48594	D	0.000000	1	0.81001	D	1.295	0.32453	L	-0.14	0.65006	T	-4.73	0.80085	D	0.757	0.75559	-0.3635	0.73159	T	0.327	0.69555	T	10	0.7029078	0.72556	D	0.057209	0.66885	D	0.721	0.90146	0.651	0.78858	0.884050608934	0.88291	0.9086360305400782	0.90837	0.112582882049	0.12714	0.622445881367	0.56074	T	0.160979	0.50504	T	0.136496	0.67989	D	0.194959	0.82851	D	0.684042513370514	0.39973	D	0.645735	0.25721	T	0.8561692	0.87795	0.81015223	0.88910	0.8561692	0.87796	0.81015223	0.88910	-6.023	0.46472	T	.	.	0.244	0.47848	B	.	.	4.730964	0.76202	26.5	0.99848515682344352	0.92838	0.99086	0.91019	D	AEFDGBCI	.	.	.	0.621549777872268	0.74540	6.149973	0.659531859431231	0.79323	7.058043	0.999999999999431	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.465395	0.07113	1	0.636168	0.56350	0	.	.	5.57	5.57	0.84021	6.240000	0.72321	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	14.877	0.70139	470	0.78111	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2305.33	33	chr1	32363943	.	T	C	2305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.577;DP=815;ExcessHet=0;FS=1.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.484;SOR=0.836	GT:AD:DP:GQ:PL	0/1:100,88:188:99:2319,0,2966	18	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P,HMGB4:NM_145205:exon2:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1333	171.76	77	chr1	33864375	.	G	C	171.76	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.921;DP=2276;ExcessHet=0.7564;FS=275.066;InbreedingCoeff=-0.1985;MLEAC=5;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=-0.121;SOR=11.912	GT:AD:DP:GQ:PL	0/1:78,37:115:38:38,0,1738	11	0	4	4
chr1	36100236	36100236	C	T	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_005202:exon3:c.G7A:p.G3R	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	0	1493	28	1	0	30	0.00994695	.	.	.	1550119	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.298	.	0.0032	0.00219649	0.007	0.0012	0.0035	0	0.0073	0.0099	0.0152	0.0057	0.0029495	456	154602	rs115156902	0.0055	0.0054	0.0054	0.0056	0.0061	0.0054	0.0054	0.0060	0.0059	0.0007	0.0021	0.0049	0	0.0039	0.0060	0.0061	0.0052	0.0050	0.0034	0.0034	0.0038	0.0031	0.0049	0.0032	0.0031	0.0044	0.0043	0.0013	0	0.0035	0.0063	0.0002	0.0024	0.0068	0.0049	0.0057	0.0046	0.0	0.91255	D	0.048	0.48594	D	0.077	0.24313	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	1.39	0.34934	L	-3.08	0.92560	D	-2.47	0.53898	N	0.233	0.26233	-0.2288	0.76919	T	0.483	0.80285	T	9	0.007133037	0.00162	T	.	.	.	0.298	0.61843	0.09	0.01023	0.573349579966	0.57003	0.671669233633394	0.67104	0.361323223472	0.37790	0.452545940876	0.32292	T	0.134602	0.46595	T	-0.230093	0.16636	T	-0.0953277	0.63757	T	0.0558326456528416	0.06496	T	0.315368	0.06236	T	0.21383123	0.43773	0.3183397	0.57803	0.22951621	0.45690	0.41117516	0.65356	-3.454	0.15794	T	.	.	0.156	0.34514	B	.;.	.;.	1.936650	0.24595	16.46	0.99387951809272912	0.62202	0.79450	0.39371	D	ALL	0.286864	0.39915	N	-0.470565837871518	0.23049	1.23502	-0.38407193466779	0.25471	1.400964	0.999999999997474	0.74766	0.696267	0.57585	0	0.615948	0.52940	0	0.691665	0.62940	0	0.599892	0.37169	0	.	.	4.61	2.66	0.30672	2.152000	0.41897	0.830000	0.21939	0.549000	0.26987	0.999000	0.42656	0.998000	0.33993	0.086000	0.17578	0.3491:0.6509:0.0:0.0	10.610	0.44603	184	0.92813	.;.	C1orf216	Muscle_Skeletal	AGO4	Testis	.	Likely benign	0	0	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	0.006129	0.005155	0.005450	0.009091	0.000000	0.017857	0.000000	0.007576	0.05263	1297.83	28	chr1	36100236	.	C	T	1297.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.888;DP=566;ExcessHet=0.119;FS=4.661;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.881;SOR=0.314	GT:AD:DP:GQ:PL	0/1:18,23:41:99:654,0,518	17	0	2	0
chr1	36308160	36308160	C	G	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon5:c.C257G:p.P86R,SH3D21:NM_001162530:exon8:c.C590G:p.P197R	.	414	1079	27	2	0	31	0.0141617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00993666005988	0.0057	0.00199681	0.0052	0.0005	0.0025	0	0.0054	0.0059	0.0055	0.0065	0.0013389	207	154602	rs76695875	0.0046	0.0044	0.0044	0.0047	0.0067	0.0045	0.0044	0.0057	0.0055	0.0004	0.0014	0.0068	2.798e-05	0.0022	0.0067	0.0049	0.0046	0.0062	0.0029	0.0029	0.0033	0.0025	0.0058	0.0027	0.0026	0.0041	0.0037	0.0011	0	0.0018	0.0084	0.0002	0.0015	0.0034	0.0042	0.0033	0.0058	0.003	0.68238	D	0.013	0.63109	D	0.994	0.66517	D	0.854	0.60866	P	0.146926	0.18097	U	0.509628	1	0.81001	D	.	.	.	2.9	0.10101	T	-3.83	0.72120	D	0.582	0.61002	-1.0868	0.06084	T	0.050	0.21182	T	10	0.009480596	0.00214	T	0.009937	0.25878	T	0.156	0.40720	.	.	0.539478914628	0.53600	0.48378686536910653	0.48298	0.405877712896	0.41475	0.518329381943	0.41391	T	.	.	.	-0.344608	0.05075	T	-0.266691	0.48154	T	0.0124233849397936	0.00204	T	0.933007	0.75759	D	.	.	.	.	.	.	.	.	-9.139	0.68587	D	.	.	0.228	0.46049	B	.;.	.;.	4.039143	0.59786	24.1	0.99840426847059882	0.92057	0.78089	0.38476	D	AEFDBI	0.163636	0.28993	N	0.524277252940655	0.68531	5.229837	0.501612177123755	0.68099	5.173562	0.999998091427557	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	1.910000	0.39557	6.002000	0.52504	0.596000	0.33519	0.959000	0.33545	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	14.188	0.65160	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003333	0.005319	0.000000	0.004167	0.000000	0.000000	0.000000	0.010638	0.05263	1557.83	34	chr1	36308160	.	C	G	1557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=898;ExcessHet=0.119;FS=0.638;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.402;SOR=0.61	GT:AD:DP:GQ:PL	0/1:38,31:69:99:822,0,994	17	0	2	0
chr1	41382133	41382133	-	CGG	exonic	FOXO6	.	nonframeshift insertion	FOXO6:NM_001291281:exon2:c.932_933insCGG:p.G315_A316insG	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021760826	0.0001	6.909e-05	8.44e-05	0.0001	0.0008	8.924e-05	8.276e-05	0.0006	0.0005	6.263e-05	0	0	0.0003	0	0	8.535e-05	0.0002	0.0008	0.0024	0.0015	0.0015	0.0031	0.0500	0.0013	0.0010	0.0136	0.0073	0.0018	0	0.0024	0	0	0	0	0.0031	0	0.0500	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	255.55	24	chr1	41382133	.	A	ACGG	255.55	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.065;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.1021;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=19.66;ReadPosRankSum=-0.415;SOR=0.892	GT:AD:DP:GQ:PL	0/1:6,7:13:99:267,0,231	13	0	1	5
chr1	46346972	46346972	G	T	exonic	NSUN4	.	nonsynonymous SNV	NSUN4:NM_001256127:exon3:c.G342T:p.L114F,NSUN4:NM_001256128:exon3:c.G342T:p.L114F,NSUN4:NM_199044:exon3:c.G489T:p.L163F	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0166574511639	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs774016496	1.368e-05	1.368e-05	1.089e-05	1.65e-05	0.0002	8.94e-06	7.26e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	1.656e-05	0.0002	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.011	0.55530	D	0.02	0.61642	D	0.902	0.49745	P	0.542	0.48916	P	0.000062	0.52346	D	0.124501	0.999917	0.51042	D	1.375	0.34280	L	2.05	0.20664	T	-2.47	0.55025	N	0.51	0.54757	-1.0051	0.28427	T	0.033	0.14290	T	10	0.2486623	0.42166	T	0.016657	0.38021	T	0.201	0.48592	0.584	0.71118	0.377976839388	0.37411	0.3724684190932308	0.37160	0.986146915518	0.73913	0.601536273956	0.53121	T	0.06019	0.31320	T	-0.298632	0.08789	T	-0.392441	0.34266	T	0.5347820520401	0.33911	D	0.928707	0.74506	D	0.77276057	0.82213	0.5315613	0.72933	0.77276057	0.82215	0.5315613	0.72933	-9.179	0.68842	D	.	.	0.383	0.63281	A	.;.	.;.	3.926387	0.57362	23.8	0.99890716821257342	0.96513	0.90926	0.52524	D	AEFBI	0.252688	0.37232	N	-0.0573346308277438	0.39275	2.313477	0.0368822588352654	0.41443	2.48981	0.999690974442668	0.41870	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	4.22	0.49153	1.611000	0.36490	4.847000	0.45339	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.1513:0.1792:0.539:0.1305	2.971	0.05560	95	0.96074	SAM-dependent methyltransferase RsmB/NOP2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1643.33	33	chr1	46346972	.	G	T	1643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.047;DP=747;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.93;SOR=0.756	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1657,0,1340	18	0	1	0
chr1	46814021	46814021	C	T	exonic	CYP4B1	.	nonsynonymous SNV	CYP4B1:NM_001319162:exon4:c.C244T:p.R82C,CYP4B1:NM_001319163:exon4:c.C241T:p.R81C,CYP4B1:NM_001319161:exon5:c.C688T:p.R230C,CYP4B1:NM_000779:exon6:c.C730T:p.R244C,CYP4B1:NM_001099772:exon6:c.C733T:p.R245C	.	418	1103	1	0	0	1	0.000453104	.	.	.	3236373	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.344	0.0644957156563	.	.	0.0002	0	8.637e-05	0	0	7.498e-05	0.0011	0.0011	0.0001617	25	154602	rs758555438	0.0001	0.0001	5.99e-05	0.0002	0.0013	9.199e-05	8.664e-05	0.0011	0.0011	0	2.236e-05	0	0	0	0.0007	2.698e-05	9.935e-05	0.0013	7.88e-05	7.874e-05	3.855e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	0	0	0	0	0	0	0	4.411e-05	0	0.0019	0.145	0.26409	T	0.146	0.39340	T	0.231	0.31830	B	0.073	0.32230	B	0.000670	0.42516	N	0.278448	0.996204	0.43074	D	3.205	0.89189	M	-0.63	0.72011	T	-4.87	0.81269	D	0.515	0.55193	-0.4815	0.69313	T	0.363	0.72422	T	10	0.10228345	0.18739	T	0.064496	0.69294	D	0.344	0.66582	0.697	0.83406	0.647335815468	0.64441	0.44285067519244264	0.44202	0.131084582138	0.14785	0.380169510841	0.22281	T	0.191486	0.70082	T	-0.311874	0.07584	T	-0.271203	0.47699	T	0.220459793550532	0.21487	T	0.413959	0.41780	T	0.4036073	0.60982	0.28589255	0.54594	0.4036073	0.60982	0.28589255	0.54593	-8.83	0.67446	D	.	.	0.215	0.46893	B	.;.;.;.;.	.;.;.;.;.	2.356136	0.30215	18.37	0.97462589315797488	0.34090	0.14713	0.18547	N	AEFBI	0.057728	0.10777	N	-0.402412613510692	0.25384	1.377574	-0.424787796915504	0.24273	1.328243	1.40970644386495E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	3.21	0.35933	0.822000	0.27007	1.759000	0.28538	-0.255000	0.07062	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	0.0:0.7702:0.0:0.2298	8.926	0.34801	259	0.89842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	36	chr1	46814021	.	C	T	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=880;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.46;SOR=0.876	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1291,0,1591	18	0	1	0
chr1	50418864	50418864	C	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.G1430A:p.S477N	.	420	1088	13	1	0	15	0.00684619	.	.	.	1328071	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.131	.	0.0060	0.00299521	0.0114	0.004	0.0099	0	0.0131	0.0161	0.0090	0.0055	0.005084	786	154602	rs200890998	0.0097	0.0094	0.0097	0.0096	0.0111	0.0095	0.0095	0.0109	0.0108	0.0016	0.0065	0.0018	6.051e-05	0.0056	0.0111	0.0111	0.0093	0.0034	0.0066	0.0066	0.0069	0.0063	0.0107	0.0063	0.0061	0.0100	0.0098	0.0018	0	0.0071	0.0006	0.0002	0.0062	0.0034	0.0107	0.0099	0.0012	0.234	0.18061	T	0.45	0.12957	T	0.895	0.49247	P	0.191	0.36391	B	0.000009	0.62929	D	0.104838	0.998686	0.45275	D	0.55	0.14455	N	1.43	0.32958	T	-0.76	0.21215	N	0.431	0.47022	-1.0643	0.10713	T	0.027	0.11441	T	10	0.008152574	0.00185	T	.	.	.	0.131	0.35738	.	.	0.0611884634855	0.05136	0.4308018187570468	0.42997	.	.	0.931823134422	0.99087	D	0.023299	0.17808	T	-0.563435	0.00242	T	-0.571724	0.15292	T	0.0175169502765856	0.00486	T	0.60444	0.22695	T	0.2641334	0.49479	0.2745531	0.53384	0.2641334	0.49479	0.2745531	0.53382	-6.221	0.48093	T	.	.	0.481	0.63694	A	.;.	.;.	3.696135	0.52685	23.3	0.98581307962543507	0.43245	0.99116	0.91460	D	AEFDBHCIJ	0.850198	0.76702	D	-0.145272655003515	0.35435	2.035378	-0.0832051784643177	0.36083	2.095494	0.999999999245227	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.16	4.16	0.48138	5.347000	0.65768	7.406000	0.58608	0.460000	0.21577	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	0.0:1.0:0.0:0.0	15.418	0.74714	560	0.71333	.;.	.	.	.	.	.	Likely benign	0	0	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	0.009734	0.016129	0.015027	0.000000	0.050000	0.000000	0.006329	0.018939	0.02632	849.33	37	chr1	50418864	.	C	T	849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.095;DP=729;ExcessHet=0;FS=13.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.067;SOR=1.535	GT:AD:DP:GQ:PL	0/1:43,37:80:99:863,0,1037	18	0	1	0
chr1	52881538	52881538	A	G	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001307931:exon10:c.A791G:p.N264S,ZYG11A:NM_001004339:exon11:c.A1817G:p.N606S	.	426	1060	35	1	0	37	0.0171535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00371419927087	0.0018	0.00299521	0.0039	0.0004	0.0048	0.0032	0.0006	0.0077	0.0081	0.0011	0.0011255	174	154602	rs74990705	0.0027	0.0026	0.0027	0.0028	0.0405	0.0027	0.0026	0.0363	0.0346	0.0015	0.0073	0.0180	0.0144	4.046e-05	0.0405	0.0017	0.0057	0.0013	0.0033	0.0033	0.0033	0.0033	0.0094	0.0031	0.0030	0.0082	0.0077	0.0008	0	0.0094	0.0196	0.0046	0	0.0714	0.0028	0.0090	0.0006	0.682	0.04404	T	0.548	0.10317	T	0.0	0.02946	B	0.001	0.04355	B	0.000544	0.43413	N	0.255590	0.999947	0.19238	N	-2.26	0.00106	N	0.86	0.46777	T	0.42	0.04380	N	0.119	0.10911	-1.0037	0.28844	T	0.017	0.06855	T	10	0.0032631755	0.00056	T	0.003714	0.08589	T	0.089	0.25827	.	.	0.0401082797425	0.02173	0.03835971225478573	0.03781	.	.	0.25982233882	0.04869	T	9.34E-4	0.00486	T	-0.68568	0.00044	T	-0.754957	0.03297	T	0.00477553847960825	0.00051	T	0.577542	0.26116	T	0.017094184	0.00246	0.02259496	0.00281	0.017094184	0.00245	0.02259496	0.00281	-0.424	0.00539	T	.	.	0.051	0.00158	B	.;.;.	.;.;.	0.763070	0.11331	7.949	0.42575992168650695	0.03148	0.20857	0.21194	N	AEFBI	0.042008	0.06462	N	-1.38617335773232	0.02767	0.1226422	-1.23648374870167	0.05335	0.2539068	3.74918051257091E-5	0.03775	0.646311	0.45356	0	0.844039	0.99811	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.56	1.51	0.22094	4.256000	0.58601	3.624000	0.39294	-0.991000	0.01849	1.000000	0.71638	0.772000	0.26708	0.385000	0.26447	0.1551:0.0:0.7126:0.1323	8.391	0.31689	154	0.93967	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.041565	0.053191	0.059701	0.061947	0.000000	0.041667	0.005882	0.025000	0.07895	3743.79	35	chr1	52881538	.	A	G	3743.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.09;DP=854;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.157;SOR=0.671	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1580,0,1271	16	0	3	0
chr1	53514694	53514694	G	A	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon7:c.C1289T:p.P430L,GLIS1:NM_001367484:exon8:c.C1814T:p.P605L	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00989298788821	0.0045	0.000798722	0.0036	0.0016	0.0023	0	0.0043	0.0051	0.0045	0.0016	0.003771	583	154602	rs142735388	0.0056	0.0056	0.0056	0.0056	0.0066	0.0055	0.0054	0.0065	0.0064	0.0011	0.0023	7.657e-05	5.038e-05	0.0028	0.0050	0.0066	0.0050	0.0018	0.0034	0.0034	0.0035	0.0034	0.0060	0.0032	0.0031	0.0055	0.0053	0.0012	0	0.0006	0	0	0.0045	0.0034	0.0060	0.0014	0.0010	0.017	0.51248	D	0.41	0.17750	T	0.384	0.34453	B	0.078	0.28627	B	0.055930	0.22601	N	0.371944	0.990685	0.41213	D	2.35	0.67516	M	2.76	0.11515	T	-1.03	0.27052	N	0.388	0.42931	-0.9774	0.35593	T	0.013	0.05321	T	10	0.011166304	0.00245	T	0.009893	0.25766	T	0.015	0.02232	.	.	0.544303689236	0.54083	0.28315753184834025	0.28228	0.0651516796996	0.07277	0.3909920156	0.23809	T	0.162119	0.50665	T	-0.566044	0.00234	T	-0.57932	0.14605	T	0.0142208380277264	0.00281	T	0.763624	0.39028	T	0.046672173	0.07851	0.050360087	0.07889	0.046672173	0.07850	0.050360087	0.07889	-2.908	0.09223	T	.	.	0.096	0.23640	B	.;.	.;.	2.204857	0.28123	17.69	0.99580483660092889	0.72980	0.63360	0.32065	D	AEFBI	0.073231	0.14641	N	-0.252525661057595	0.31003	1.734149	-0.165473704700105	0.32816	1.870839	0.0013396931270503	0.08454	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.97	3.9	0.44240	1.863000	0.39097	4.254000	0.42773	-0.123000	0.13640	0.980000	0.35271	1.000000	0.68203	0.554000	0.30269	0.2267:0.0:0.7733:0.0	8.079	0.29895	471	0.78036	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.010101	0.002717	0.000000	0.050000	0.008621	0.000000	0.000000	0.02632	1042.33	33	chr1	53514694	.	G	A	1042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.511;SOR=0.607	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1056,0,783	18	0	1	0
chr1	59904999	59904999	C	T	exonic	CYP2J2	.	nonsynonymous SNV	CYP2J2:NM_000775:exon7:c.G1063A:p.A355T	.	420	1045	55	2	0	59	0.0274546	.	.	.	2808929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.015105775827	0.0011	0.000998403	0.0018	0.0006	0.0007	0	0.0002	0.0011	0.0055	0.0078	0.0015524	240	154602	rs144856672	0.0012	0.0012	0.0009	0.0014	0.0184	0.0011	0.0011	0.0155	0.0145	0.0007	0.0011	3.827e-05	7.56e-05	0	0.0184	0.0006	0.0017	0.0085	0.0010	0.0010	0.0009	0.0011	0.0085	0.0009	0.0008	0.0065	0.0057	0.0006	0	0.0012	0	0	0	0.0102	0.0008	0.0043	0.0085	0.024	0.47745	D	0.006	0.70582	D	0.002	0.09854	B	0.015	0.17295	B	0.395206	0.13200	N	0.748294	0.999761	0.20447	N	1.79	0.46772	L	-0.34	0.68474	T	0.11	0.05706	N	0.035	0.01004	-0.9203	0.45513	T	0.166	0.50356	T	10	0.0077751577	0.00177	T	0.015106	0.35650	T	0.102	0.29158	.	.	0.519783508757	0.51621	0.3072233096902115	0.30635	0.121399189347	0.13675	0.226801514626	0.01740	T	0.113322	0.43027	T	-0.579393	0.00194	T	-0.599907	0.12819	T	0.023003499802571	0.01024	T	0.765923	0.39354	T	0.063747086	0.13454	0.08463631	0.19484	0.063747086	0.13453	0.08463631	0.19483	-4.378	0.29257	T	.	.	0.078	0.06990	B	.	.	0.592324	0.09609	6.382	0.99512910124413778	0.68739	0.25292	0.22655	N	AEFI	0.434115	0.49529	N	-0.680728933999535	0.16572	0.8454822	-0.632723241483656	0.18655	0.9974999	0.00716124955779844	0.11400	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	2.94	0.33188	0.084000	0.14738	-9.174000	0.00857	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.336000	0.25340	0.1638:0.6205:0.1376:0.0781	5.067	0.13926	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	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	0.009567	0.000000	0.009511	0.017544	0.000000	0.025862	0.003049	0.011364	0.07895	4415.79	35	chr1	59904999	.	C	T	4415.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.317;DP=946;ExcessHet=0.3672;FS=1.227;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.86;SOR=0.767	GT:AD:DP:GQ:PL	0/1:82,57:139:99:1327,0,1951	16	0	3	0
chr1	66777419	66777419	G	A	exonic	TCTEX1D1	.	nonsynonymous SNV	TCTEX1D1:NM_152665:exon5:c.G505A:p.A169T	.	437	1083	1	1	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.0288583842303	.	0.00159744	0.0013	0.0002	0.0022	0	0	4.498e-05	0	0.0081	0.0011707	181	154602	rs367743410	0.0006	0.0006	0.0004	0.0008	0.0076	0.0005	0.0005	0.0071	0.0069	0.0001	0.0018	0	0.0003	0	0.0003	4.317e-05	0.0006	0.0076	0.0003	0.0003	0.0001	0.0004	0.0064	0.0002	0.0002	0.0046	0.0040	0.0001	0	0.0002	0	0	0	0	4.412e-05	0.0005	0.0064	0.005	0.63226	D	0.006	0.70582	D	0.999	0.77913	D	0.946	0.68276	D	0.000000	0.84330	D	0.049596	1	0.81001	D	3.81	0.95479	H	1.37	0.34253	T	-3.44	0.67477	D	0.623	0.63798	-0.3327	0.74055	T	0.290	0.66162	T	10	0.018685818	0.00409	T	0.028858	0.51467	D	0.460	0.75755	0.732	0.86547	0.753115559536	0.75088	0.6129490193825382	0.61226	0.393819959556	0.40552	0.434276103973	0.29793	T	0.166358	0.51257	T	-0.18518	0.22969	T	-0.0332249	0.68154	D	0.224257227028277	0.21674	T	0.925307	0.72522	D	0.7249059	0.79436	0.72359353	0.83675	0.7249059	0.79437	0.72359353	0.83676	-8.784	0.66296	D	.	.	0.366	0.57610	A	.	.	4.952153	0.81810	27.6	0.99913717192684248	0.98238	0.98739	0.86233	D	AEFBI	0.896977	0.83865	D	1.0190101992036	0.96301	14.53096	0.958115454783107	0.97639	16.48552	0.999999940146721	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	9.042000	0.93266	11.770000	0.95838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	19.949	0.97193	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1022.33	33	chr1	66777419	.	G	A	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.098;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.124;SOR=0.648	GT:AD:DP:GQ:PL	0/1:27,39:66:99:1036,0,686	18	0	1	0
chr1	70205533	70205533	C	T	exonic	LRRC40	.	nonsynonymous SNV	LRRC40:NM_017768:exon1:c.G8A:p.R3H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	.	.	0.00179712	0.0015	0	0.0002	0	0	1.525e-05	0	0.0107	0.001229	190	154602	rs565022599	0.0006	0.0007	0.0003	0.0010	0.0106	0.0006	0.0006	0.0100	0.0097	6.007e-05	6.774e-05	0	0	0	0.0002	7.289e-06	0.0005	0.0106	0.0004	0.0004	0.0001	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0	0	0	0	0	0.0120	0.006	0.61437	D	0.019	0.59159	D	0.999	0.77913	D	0.84	0.60170	P	0.000016	0.62929	D	0.111604	0.999679	0.48205	D	2.495	0.72670	M	1.29	0.35775	T	-1.23	0.31170	N	0.558	0.58287	-0.9075	0.47156	T	0.135	0.44952	T	10	0.0062733293	0.00141	T	.	.	.	0.225	0.52323	0.462	0.53079	0.722838293459	0.72039	0.4294081487562566	0.42857	0.351201735041	0.36964	0.542673826218	0.44824	T	0.009698	0.08812	T	-0.365008	0.03855	T	-0.289123	0.45864	T	0.129012356700747	0.15290	T	0.513749	0.16498	T	0.24595529	0.47558	0.27180967	0.53085	0.24595529	0.47558	0.27180967	0.53084	-7.391	0.56841	T	.	.	0.203	0.42777	B	.	.	4.362663	0.67097	25.1	0.99942205089518332	0.99824	0.89939	0.50738	D	ALL	0.347669	0.44206	N	0.498438803692165	0.66999	5.023424	0.431107194113858	0.63512	4.586464	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.05	5.05	0.67566	2.637000	0.46219	4.635000	0.44132	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.295000	0.24381	0.0:1.0:0.0:0.0	13.770	0.62504	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	911.33	34	chr1	70205533	.	C	T	911.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.321;DP=681;ExcessHet=0;FS=3.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.784;SOR=0.35	GT:AD:DP:GQ:PL	0/1:22,37:59:99:925,0,448	18	0	1	0
chr1	74205344	74205344	A	G	exonic	FPGT	.	nonsynonymous SNV	FPGT:NM_003838:exon4:c.A1297G:p.N433D,FPGT:NM_001199328:exon5:c.A535G:p.N179D	.	423	1098	1	0	0	1	0.000455166	.	.	.	2808956	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00199681	0.0010	0	0	0	0	0	0	0.0071	0.0008538	132	154602	rs546038252	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0061	0.0060	2.987e-05	0	0	0	0	0	3.597e-06	0.0004	0.0066	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0	0	0	0	0	0.0093	0.223	0.18757	T	0.312	0.19599	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.64	0.52867	T	-1.97	0.45587	N	0.35	0.39153	-1.0564	0.12672	T	0.046	0.19640	T	8	0.0069644153	0.00158	T	.	.	.	0.151	0.39764	.	.	0.192905019026	0.18896	0.23959461324504153	0.23873	.	.	.	.	.	.	.	.	-0.486134	0.00683	T	-0.466789	0.25863	T	0.0857656610932926	0.10707	T	0.855914	0.54393	D	0.101286404	0.23925	0.15069802	0.35530	0.101286404	0.23925	0.15069802	0.35529	-4.515	0.33585	T	.	.	0.118	0.35684	B	.;.	.;.	3.203141	0.43573	21.8	0.98758393496993391	0.45770	0.76971	0.37796	D	AEFDBIJ	0.076239	0.15332	N	0.188734346092964	0.50658	3.253761	0.222939248031277	0.51124	3.297585	0.975618527381463	0.29649	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.72	4.53	0.55009	2.550000	0.45472	7.920000	0.74475	0.756000	0.94297	0.990000	0.36992	1.000000	0.68203	0.941000	0.48210	0.6653:0.1345:0.071:0.1293	3.822	0.08355	941	0.13089	L-fucokinase;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1258.33	97	chr1	74205344	.	A	G	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=1197;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.18;SOR=0.614	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1272,0,1834	18	0	1	0
chr1	83870002	83870002	C	T	exonic	TTLL7	.	nonsynonymous SNV	TTLL7:NM_001350215:exon20:c.G2543A:p.R848H,TTLL7:NM_024686:exon21:c.G2624A:p.R875H,TTLL7:NM_001350214:exon22:c.G2624A:p.R875H	.	.	.	.	.	.	.	.	.	.	.	3935896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00505092469521	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs200003317	1.738e-05	2.189e-05	1.521e-05	1.958e-05	3.679e-05	1.193e-05	1.008e-05	1.183e-05	9.62e-06	0	0	0	0	0	0	1.812e-05	3.365e-05	3.679e-05	1.315e-05	1.314e-05	2.57e-05	0	6.551e-05	2.18e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.122	0.35710	T	0.032	0.20242	B	0.005	0.11217	B	0.038786	0.24244	N	0.420852	0.973597	0.39036	D	0.955	0.23872	L	3.67	0.04188	T	-1.25	0.31576	N	0.135	0.13198	-0.9621	0.38781	T	0.006	0.02055	T	10	0.094806135	0.16886	T	0.005051	0.12784	T	0.034	0.08419	0.377	0.39156	0.208000267992	0.20380	0.6221804598770858	0.62151	0.637893461377	0.57527	0.313076078892	0.12372	T	0.04565	0.27188	T	-0.230902	0.16530	T	-0.569451	0.15500	T	0.226095167112115	0.21764	T	0.811819	0.46320	T	0.09236164	0.21667	0.050060082	0.07778	0.09236164	0.21666	0.050060082	0.07778	-4.375	0.29216	T	.	.	0.100	0.17189	B	.	.	3.737384	0.53497	23.4	0.98915946542680433	0.48472	0.81192	0.40648	D	AEFGI	0.185325	0.31265	N	-0.13538348464087	0.35858	2.065101	0.0394918265354881	0.41568	2.499416	0.0894702033140849	0.16085	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.88	3.69	0.41483	2.408000	0.44227	3.986000	0.40947	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8437:0.0:0.1563	12.167	0.53443	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1362.33	33	chr1	83870002	.	C	T	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.191;DP=729;ExcessHet=0;FS=3.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.163;SOR=0.731	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1376,0,1225	18	0	1	0
chr1	86915097	86915099	GCG	-	exonic	HS2ST1	.	nonframeshift deletion	HS2ST1:NM_001134492:exon1:c.61_63del:p.A21del,HS2ST1:NM_012262:exon1:c.61_63del:p.A21del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1038.29	35	chr1	86915096	.	CGCG	C	1038.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.772;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-2.203;SOR=0.735	GT:AD:DP:GQ:PL	0/1:22,27:49:99:1052,0,842	18	0	1	0
chr1	93589193	93589193	C	T	exonic	BCAR3	.	nonsynonymous SNV	BCAR3:NM_001261410:exon3:c.G440A:p.R147H,BCAR3:NM_001261409:exon5:c.G713A:p.R238H,BCAR3:NM_003567:exon5:c.G713A:p.R238H,BCAR3:NM_001261408:exon7:c.G713A:p.R238H	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	.	0.0023	0.00299521	0.0021	0.0009	0.0004	0	0.0003	0.0024	0.0023	0.0044	0.0020892	323	154602	rs137969427	0.0032	0.0032	0.0033	0.0032	0.0043	0.0032	0.0031	0.0039	0.0038	0.0007	0.0007	0.0011	5.038e-05	0.0003	0.0016	0.0037	0.0028	0.0043	0.0019	0.0019	0.0019	0.0019	0.0035	0.0017	0.0016	0.0029	0.0028	0.0007	0	0.0007	0.0003	0	9.418e-05	0.0034	0.0032	0.0014	0.0035	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	-0.06	0.63568	T	-3.33	0.66206	D	0.421	0.47115	-0.3275	0.74206	T	0.368	0.72780	T	10	0.009253174	0.00209	T	.	.	.	0.283	0.60100	.	.	0.63039333651	0.62737	0.5347690251867538	0.53401	0.653951524495	0.58502	0.668007493019	0.62554	T	0.416087	0.76914	T	-0.269542	0.11807	T	-0.159001	0.58442	T	0.0337550608146583	0.02596	T	0.985301	0.94937	D	0.43341994	0.62976	0.27022064	0.52911	0.43341994	0.62976	0.27022064	0.52910	-4.777	0.34322	T	.	.	0.263	0.49778	B	.;.;.;.	.;.;.;.	5.435323	0.90871	32	0.99954797058971256	0.99969	0.96078	0.67433	D	AEFDBHCI	0.731285	0.67841	D	0.707485585597362	0.80125	7.225114	0.677688086251069	0.80690	7.354792	0.999999999999991	0.74766	0.722319	0.85440	0	0.708844	0.79440	0	0.650271	0.49498	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	5.479000	0.66538	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	18.566	0.91069	279	0.89001	.;SH2 domain|SH2 domain;SH2 domain|SH2 domain;SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.010204	0.000000	0.002924	0.000000	0.017241	0.003049	0.003788	0.02632	1966.33	34	chr1	93589193	.	C	T	1966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.849;DP=745;ExcessHet=0;FS=8.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=0.881;SOR=0.561	GT:AD:DP:GQ:PL	0/1:49,67:116:99:1980,0,1250	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,27:154:99:0|1:99884396_T_C:213,0,4523:99884396	4	0	15	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2105	2128.93	50	chr1	99884400	.	T	C	2128.93	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.929;DP=2013;ExcessHet=4.0268;FS=140.901;InbreedingCoeff=-0.2737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.54;SOR=11.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,40:154:99:0|1:99884396_T_C:639,0,2608:99884396	11	0	8	0
chr1	108834928	108834928	C	T	splicing	AKNAD1	NM_152763:exon8:c.1664+1G>A	.	.	.	.	.	.	.	.	.	.	0.9999	0.674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.246e-05	0.0001	0	0	0	9.4e-05	0	0	5.17e-05	8	154602	rs759160775	6.814e-05	7.114e-05	7.044e-05	6.58e-05	0.0006	5.681e-05	5.273e-05	0.0002	8.683e-05	0	0	0.0008	2.879e-05	0	0.0006	5.83e-05	8.836e-05	5.365e-05	3.945e-05	3.94e-05	6.427e-05	1.346e-05	5.881e-05	1.716e-05	1.13e-05	1.972e-05	1.125e-05	0	0	0	0.0006	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999943	0.19238	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.55789	0.00261	T	-0.843512	0.01047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	2.337777	0.29957	18.29	0.45994511748099232	0.03651	0.04579	0.10227	N	AEFDI	.	.	.	0.061487401847531	0.44674	2.737055	-0.377877298216037	0.25658	1.412379	0.755200814024599	0.23422	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0940458	0.21162	2.1	0.00877	0.13397	0.130000	0.15676	1.118000	0.24218	-0.257000	0.07002	0.181000	0.24076	0.420000	0.24802	0.002000	0.04165	0.0:0.5508:0.2734:0.1758	3.337	0.06690	859	0.33891	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1032.33	34	chr1	108834928	.	C	T	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=718;ExcessHet=0;FS=1.903;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.432;SOR=0.495	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1046,0,768	18	0	1	0
chr1	109112634	109112634	C	T	exonic	C1orf194	.	nonsynonymous SNV	C1orf194:NM_001245025:exon1:c.G46A:p.D16N,C1orf194:NM_001366201:exon1:c.G46A:p.D16N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00544090975288	.	.	6.243e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs762170736	7.866e-06	7.524e-06	7.056e-06	8.699e-06	1.262e-05	4.22e-06	3.09e-06	4.69e-06	3.42e-06	0	0	0	0	0	0	9.268e-06	0	1.262e-05	6.571e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.093	0.39799	T	0.007	0.14184	B	0.001	0.04355	B	0.181300	0.17095	N	0.518914	0.548542	0.32113	D	.	.	.	.	.	.	-2.76	0.58569	D	0.145	0.24135	-0.9979	0.30507	T	0.023	0.09696	T	8	0.054433912	0.05794	T	0.005441	0.13984	T	0.048	0.13305	0.205	0.12076	0.0401082797425	0.02173	.	.	.	.	.	.	.	0.049106	0.28211	T	-0.31935	0.06951	T	-0.676229	0.07216	T	0.522723734378815	0.33466	D	0.79722	0.44094	T	0.15474214	0.35007	0.18557727	0.41678	0.15474214	0.35007	0.18557727	0.41677	-3.344	0.14311	T	.	.	0.121	0.25265	B	.;.	.;.	2.171431	0.27671	17.54	0.99673860733745778	0.78782	0.04513	0.10139	N	AEFBHCIJ	0.110552	0.21919	N	-0.739564406998468	0.14918	0.7472992	-0.734806302891101	0.16096	0.8498739	0.999950757308898	0.48110	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.65	1.63	0.22882	0.274000	0.18443	1.532000	0.27166	0.456000	0.21511	0.141000	0.23520	0.735000	0.26442	0.991000	0.66497	0.179:0.6263:0.0:0.1947	4.269	0.10227	699	0.57969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1149.33	33	chr1	109112634	.	C	T	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.306;SOR=0.626	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1163,0,1121	18	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,22:99:99:.:.:179,0,2035:.	7	0	10	2
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,18:110:48:.:.:48,0,2148:.	5	0	14	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:102,38:148:99:219,0,1595	3	0	16	0
chr1	117963818	117963818	C	T	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon48:c.G6653A:p.R2218H	.	427	1078	17	0	0	17	0.00782329	.	.	.	3191588	SPAG17-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.012	.	0.0032	0.00359425	0.0043	0.0042	0.0021	0	0.0003	0.0025	0.0067	0.0171	0.0039974	618	154602	rs112012491	0.0033	0.0034	0.0030	0.0037	0.0154	0.0033	0.0032	0.0147	0.0144	0.0034	0.0019	0.0036	0	0.0003	0.0078	0.0027	0.0038	0.0154	0.0030	0.0030	0.0028	0.0031	0.0120	0.0027	0.0026	0.0095	0.0086	0.0036	0	0.0033	0.0023	0.0004	0.0005	0	0.0025	0.0028	0.0120	0.131	0.26629	T	0.109	0.37449	T	0.012	0.16265	B	0.005	0.11217	B	0.639539	0.10612	N	0.815126	0.999999	0.08975	N	0.86	0.21358	L	2.1	0.19990	T	-1.2	0.30555	N	0.096	0.07673	-0.9560	0.39916	T	0.016	0.06521	T	10	0.0034430623	0.00061	T	.	.	.	0.012	0.01476	.	.	0.0482279557977	0.04254	0.3619842413645905	0.36112	0.0577556092581	0.06399	0.191996574402	0.00262	T	0.001675	0.01102	T	-0.672154	0.00053	T	-0.725306	0.04544	T	0.00404187994275917	0.00043	T	0.60064	0.22426	T	0.040545996	0.05807	0.04286035	0.05200	0.03825496	0.05060	0.041897234	0.04867	-3.895	0.22227	T	0.2199208819639975	0.29640	0.097	0.15698	B	.	.	1.755195	0.22329	15.57	0.60974399174801031	0.06594	0.00825	0.03327	N	AEFBI	0.045822	0.07537	N	-0.923212320509405	0.10300	0.4915675	-0.985320819739862	0.10114	0.5073824	1.01423727802349E-4	0.05123	0.554377	0.28877	0	0.601575	0.49859	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	4.76	-0.819	0.10283	-0.448000	0.06893	-1.398000	0.05533	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.174000	0.21107	0.0:0.4261:0.0:0.5739	7.656	0.27540	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005550	0.005051	0.005435	0.008772	0.000000	0.000000	0.000000	0.015152	0.05263	1591.83	33	chr1	117963818	.	C	T	1591.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.62;DP=767;ExcessHet=0.119;FS=1.221;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.062;SOR=0.837	GT:AD:DP:GQ:PL	0/1:54,26:80:99:626,0,1313	17	0	2	0
chr1	120449241	120449241	C	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.C827T:p.A276V	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782789067	0.0006	0.0022	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	6.761e-05	0.0002	0	3.756e-05	0.0005	0.0008	0.0004	0.0002	9.259e-05	0.0006	0.0001	8.128e-05	0.0004	5.562e-05	4.392e-05	7.395e-05	5.118e-05	2.425e-05	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	143.83	116	chr1	120449241	.	C	T	143.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.631;DP=1893;ExcessHet=0.119;FS=5.409;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=38.23;MQRankSum=-0.11;QD=0.24;ReadPosRankSum=1.72;SOR=0.607	GT:AD:DP:GQ:PL	0/1:228,35:263:80:80,0,5926	17	0	2	0
chr1	143973020	143973020	A	G	exonic	FAM72C	.	nonsynonymous SNV	FAM72C:NM_001346067:exon2:c.T92C:p.V31A	.	713	808	1	0	0	1	0.000618429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	144.39	38	chr1	143973020	.	A	G	144.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.447;DP=541;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.0306;MLEAC=1;MLEAF=0.026;MQ=24.03;MQRankSum=-0.569;QD=4.13;ReadPosRankSum=0.292;SOR=0.399	GT:AD:DP:GQ:PL	0/1:25,10:35:99:158,0,574	18	0	1	0
chr1	144914735	144914735	T	-	exonic	SRGAP2B	.	frameshift deletion	SRGAP2B:NM_001385228:exon4:c.173delA:p.Q58Rfs*6,SRGAP2B:NM_001271870:exon5:c.443delA:p.Q148Rfs*6,SRGAP2B:NM_001366280:exon5:c.443delA:p.Q148Rfs*6,SRGAP2B:NM_001385226:exon6:c.533delA:p.Q178Rfs*6	.	639	880	3	0	0	3	0.00170164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486906090	0.0001	9.223e-05	0.0001	0.0001	0.0015	8.28e-05	7.367e-05	0.0004	0.0002	8.12e-05	5.289e-05	0	0	2.319e-05	0.0015	0.0002	7.716e-05	0	4.348e-05	5.295e-05	4.184e-05	4.524e-05	9.533e-05	1.861e-05	1.225e-05	4.117e-05	2.742e-05	0	0	0	0	0	0	0	9.533e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	378.3	27	chr1	144914734	.	CT	C	378.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.548;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=24.39;MQRankSum=1.03;QD=12.2;ReadPosRankSum=-1.604;SOR=0.593	GT:AD:DP:GQ:PL	0/1:19,12:31:99:392,0,658	18	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,21:124:99:.:.:160,0,3014:.	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,21:124:99:.:.:160,0,3014:.	9	0	10	0
chr1	151802658	151802658	G	A	exonic	LINGO4	.	nonsynonymous SNV	LINGO4:NM_001004432:exon2:c.C47T:p.P16L	.	.	.	.	.	.	.	.	.	.	.	2294077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00768651612021	.	.	3.763e-05	0.0002	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs772746600	1.795e-05	2.121e-05	8.489e-06	2.77e-05	0.0002	1.232e-05	1.041e-05	0.0001	0.0001	0	2.891e-05	0	2.561e-05	0	0	7.404e-06	0	0.0002	1.314e-05	1.313e-05	1.284e-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	0.377	0.11298	T	0.388	0.15602	T	0.0	0.02946	B	0.0	0.01387	B	0.033242	0.24922	N	0.288673	0.999995	0.08975	N	0.215	0.09537	N	0.33	0.58323	T	0.25	0.04456	N	0.181	0.19593	-0.9847	0.33903	T	0.038	0.16203	T	10	0.13422936	0.25545	T	0.007687	0.20404	T	0.084	0.24469	0.449	0.50957	0.230578612272	0.22657	0.4312595266295038	0.43042	0.0985995298623	0.11141	0.339584469795	0.16376	T	0.093935	0.39314	T	-0.327314	0.06317	T	-0.482238	0.24209	T	0.0380687892054498	0.03345	T	0.510149	0.16261	T	0.025980184	0.01598	0.048534974	0.07229	0.025980184	0.01597	0.048534974	0.07229	-1.632	0.02058	T	.	.	0.082	0.08754	B	.	.	0.717293	0.10865	7.539	0.59459941285984841	0.06229	0.50374	0.28648	D	AEFBI	0.110591	0.21926	N	-1.05699534059151	0.07450	0.3461588	-1.02789560079188	0.09174	0.4549635	0.00765021108558421	0.11513	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.44	-0.794	0.10367	1.912000	0.39577	0.622000	0.20140	-0.119000	0.14319	0.887000	0.31133	0.057000	0.21958	0.022000	0.11911	0.3576:0.1333:0.5091:0.0	6.201	0.19791	534	0.73357	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	640.33	33	chr1	151802658	.	G	A	640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=682;ExcessHet=0;FS=1.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.42;SOR=0.841	GT:AD:DP:GQ:PL	0/1:33,24:57:99:654,0,826	18	0	1	0
chr1	152109804	152109804	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G3413A:p.R1138K	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00758786	0.0048	0.0001	0.0003	0	0	2.999e-05	0	0.0348	0.0040491	626	154602	rs533992300	0.0021	0.0021	0.0011	0.0032	0.0339	0.0021	0.0020	0.0329	0.0325	9.158e-05	0	0	0	0	0.0025	2.364e-05	0.0021	0.0339	0.0011	0.0011	0.0005	0.0016	0.0346	0.0009	0.0009	0.0302	0.0286	0	0	0	0	0	0	0	0	0.0005	0.0346	0.0	0.91255	D	0.339	0.18071	T	0.141	0.27581	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.87	0.49600	L	3.58	0.04594	T	-0.36	0.13035	N	0.215	0.24135	-0.9188	0.45716	T	0.003	0.00832	T	9	0.0022397041	0.00033	T	.	.	.	0.015	0.02232	0.292	0.25400	0.39798585902	0.39410	0.020110557720561088	0.01964	0.269095252176	0.29422	0.304328262806	0.11049	T	0.002148	0.01547	T	-0.575642	0.00205	T	-0.573884	0.15095	T	0.110068335798985	0.13431	T	0.153785	0.01329	T	0.16616009	0.36933	0.2301852	0.48113	0.17152028	0.37790	0.27158147	0.53059	-6.744	0.52141	T	.	.	0.192	0.44986	B	.;.	.;.	1.747150	0.22230	15.53	0.51538923033367567	0.04581	0.04943	0.10703	N	AEFDBHCI	0.076084	0.15298	N	-1.1373360611999	0.05990	0.2746135	-1.17216560275044	0.06378	0.3068309	0.999861090633338	0.44398	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.554799	0.18163	0	.	.	3.01	2.08	0.26079	1.223000	0.32131	.	.	0.440000	0.21072	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.0:0.8634:0.0:0.1366	7.490	0.26625	479	0.77495	.;.	.	.	.	.	.	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	0.004228	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.02632	1573.33	44	chr1	152109804	.	C	T	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=1445;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.13;MQRankSum=2.14;QD=13;ReadPosRankSum=1.03;SOR=0.634	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1587,0,1877	18	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	4465.79	1333	chr1	152306286	.	A	C	4465.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.757;DP=13859;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.24;MQRankSum=-9.886;QD=1.08;ReadPosRankSum=5.9;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1451,196:1647:99:0|1:152306286_A_C:3782,0,59568:152306286	16	0	3	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4024.75	1333	chr1	152306292	.	G	GCC	4024.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.203;DP=13924;ExcessHet=0.3672;FS=0.953;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.62;MQRankSum=-10.23;QD=0.95;ReadPosRankSum=6.22;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1477,195:1672:99:0|1:152306286_A_C:3681,0,61082:152306286	16	0	3	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3840.75	1333	chr1	152306294	.	ATG	A	3840.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.481;DP=13958;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.84;MQRankSum=-10.23;QD=0.9;ReadPosRankSum=5.99;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1490,195:1685:99:0|1:152306286_A_C:3642,0,61813:152306286	16	0	3	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	3485.79	1333	chr1	152306299	.	T	A	3485.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.225;DP=13952;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0856;MLEAC=3;MLEAF=0.079;MQ=54.17;MQRankSum=-10.57;QD=0.82;ReadPosRankSum=5.09;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1492,189:1681:99:0|1:152306286_A_C:3445,0,62080:152306286	16	0	3	0
chr1	152985356	152985356	C	0	exonic	SPRR1A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	21309.5	130	chr1	152985356	.	C	*	21309.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=1538;ExcessHet=1.2994;FS=0;InbreedingCoeff=0.0087;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0;QD=17.23;ReadPosRankSum=-0.314;SOR=0.71	GT:AD:DP:GQ:PL	0/1:0,45:101:99:3532,1837,2262	18	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:88,56:144:99:152,0,1254	7	0	10	2
chr1	154961615	154961615	G	A	exonic	LOC101928120	.	startloss	LOC101928120:NM_001321726:exon1:c.G3A:p.M1?	.	428	1093	0	1	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	0	.	0	.	.	0.0008837	23	26028	rs770332564	0.0011	0.0007	0.0011	0.0012	0.0010	0.0011	0.0010	0.0004	0.0003	0	0.0008	0.0283	0	0	0.0010	0.0003	0.0027	0.0002	0.0012	0.0012	0.0012	0.0011	0.0009	0.0010	0.0010	0.0006	0.0004	9.62e-05	0	0.0009	0.0389	0	0	0	0.0003	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	669.33	34	chr1	154961615	.	G	A	669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.509;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.078;SOR=0.735	GT:AD:DP:GQ:PL	0/1:28,26:54:99:683,0,759	18	0	1	0
chr1	155031706	155031706	C	T	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon4:c.G607A:p.G203S	.	428	1077	16	1	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	0.0008	0.00359425	0.0024	0	0.0006	0	0.0002	0.0006	0.0022	0.0148	0.0021022	325	154602	rs143867546	0.0012	0.0012	0.0007	0.0016	0.0140	0.0011	0.0011	0.0134	0.0131	0.0001	0.0004	0.0014	0	0.0006	0.0040	0.0003	0.0015	0.0140	0.0006	0.0006	0.0004	0.0008	0.0085	0.0005	0.0004	0.0064	0.0057	2.406e-05	0.0055	0.0002	0.0014	0	0.0004	0	0.0004	0.0005	0.0085	0.0	0.91255	D	0.0	0.92824	D	0.989	0.62824	D	0.746	0.55899	P	0.000002	0.62929	D	0.000000	0.877179	0.35677	D	2.455	0.71248	M	1.77	0.25841	T	-4.39	0.77225	D	0.609	0.62611	-1.0952	0.04723	T	0.039	0.16720	T	10	0.0073500276	0.00167	T	.	.	.	0.142	0.37995	.	.	0.396494342077	0.39262	0.6308940543916751	0.63023	0.247040294134	0.27239	0.543425798416	0.44929	T	0.353173	0.72051	T	-0.426254	0.01562	T	-0.373385	0.36493	T	0.0790607385132927	0.09866	T	0.780822	0.41560	T	0.67530733	0.76718	0.54595006	0.73753	0.67530733	0.76719	0.54595006	0.73754	-10.341	0.75928	D	.	.	0.355	0.56869	A	.	.	4.282848	0.65252	24.8	0.99858674468472719	0.93729	0.85127	0.44234	D	AEFBI	0.578397	0.57962	D	0.319765875406958	0.57162	3.882741	0.355873199408779	0.58862	4.059571	0.162697727887977	0.17617	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.67	4.76	0.60189	3.611000	0.53881	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.9173:0.0:0.0827	11.784	0.51303	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	894.33	40	chr1	155031706	.	C	T	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.316;DP=736;ExcessHet=0;FS=2.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=1.02;SOR=0.466	GT:AD:DP:GQ:PL	0/1:57,41:98:99:908,0,1426	18	0	1	0
chr1	155347891	155347891	C	T	exonic	ASH1L	.	nonsynonymous SNV	ASH1L:NM_001366177:exon20:c.G7583A:p.R2528H,ASH1L:NM_018489:exon20:c.G7568A:p.R2523H	.	9	1507	5	1	0	7	0.00231711	.	.	.	1686960	not_provided|ASH1L-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.200	0.0158122193675	0.0017	0.000798722	0.0020	0.0002	0.0015	0	0	0.0033	0.0011	0.0004	0.0019017	294	154602	rs41264231	0.0014	0.0014	0.0013	0.0015	0.0078	0.0014	0.0013	0.0060	0.0054	0.0003	0.0016	0.0305	5.038e-05	3.744e-05	0.0078	0.0008	0.0029	0.0004	0.0016	0.0016	0.0017	0.0016	0.0018	0.0014	0.0014	0.0013	0.0011	0.0003	0	0.0018	0.0401	0	0	0.0034	0.0009	0.0019	0	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.99952	0.51308	D	1.57	0.39626	L	2.17	0.19020	T	-3.43	0.67359	D	0.666	0.67477	-1.1031	0.03736	T	0.089	0.34271	T	10	0.009892166	0.00222	T	0.015812	0.36746	T	0.200	0.48430	.	.	0.553752920557	0.55033	0.37046118065192796	0.36960	1.97671408599	0.93605	0.573575615883	0.49182	T	0.155556	0.49735	T	-0.26758	0.12027	T	-0.176151	0.56878	T	0.107340099065022	0.13146	T	0.963704	0.86510	D	0.6572635	0.75752	0.656672	0.79896	0.7133097	0.78791	0.59317094	0.76388	-10.441	0.76583	D	.	.	0.619	0.69661	P	.;.	.;.	5.394637	0.90360	31	0.99949085075853017	0.99931	0.98381	0.82198	D	AEFDBI	0.660437	0.63101	D	0.72980405299496	0.81586	7.557113	0.732997351590774	0.84882	8.41793	0.999999989666202	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	5.478000	0.66531	7.642000	0.63248	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.948	0.92605	44	0.97806	Bromodomain|Bromodomain|Bromodomain;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	1915.33	33	chr1	155347891	.	C	T	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=765;ExcessHet=0;FS=7.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.363;SOR=1.419	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1929,0,1695	18	0	1	0
chr1	159535430	159535430	A	G	exonic	OR10J5	.	nonsynonymous SNV	OR10J5:NM_001004469:exon1:c.T578C:p.I193T	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00224019443569	.	.	4.123e-05	9.634e-05	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs753742483	3.01e-05	3.01e-05	9.529e-06	5.088e-05	0.0005	2.282e-05	2.032e-05	0.0003	0.0003	2.987e-05	0	0	0	0	0.0005	8.994e-07	0	0.0005	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.083	0.41405	T	0.026	0.19406	B	0.043	0.24256	B	.	.	.	.	0.999965	0.18878	N	1.14	0.29013	L	8.6	0.00167	T	-2.65	0.56787	D	0.064	0.03613	-1.0156	0.25143	T	0.000	0.00075	T	9	0.06820434	0.09614	T	0.00224	0.04260	T	0.121	0.33580	.	.	0.198222871337	0.19423	0.061372184983661905	0.06077	0.0735744681833	0.08248	0.210828796029	0.00847	T	0.127337	0.45430	T	-0.481859	0.00721	T	-0.613778	0.11680	T	0.0378802654947392	0.03311	T	0.0526947	0.00377	T	0.19022587	0.40599	0.25977045	0.51730	0.19022587	0.40599	0.25977045	0.51729	-4.898	0.35713	T	.	.	0.104	0.18663	B	.	.	1.645398	0.20997	15.00	0.892188539444569	0.18610	0.34505	0.25083	N	AEFBI	0.103202	0.20683	N	-0.56549770826768	0.20001	1.051115	-0.520047454503502	0.21610	1.169801	3.31485329803108E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	4.17	0.48303	1.353000	0.33649	3.772000	0.39758	0.691000	0.84096	0.001000	0.13787	0.047000	0.21741	0.601000	0.31412	1.0:0.0:0.0:0.0	11.476	0.49544	866	0.32446	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	3064.33	151	chr1	159535430	.	A	G	3064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.507;DP=1442;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.22;ReadPosRankSum=-1.88;SOR=0.667	GT:AD:DP:GQ:PL	0/1:76,102:178:99:3078,0,2170	18	0	1	0
chr1	159934568	159934568	C	T	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon8:c.G818A:p.R273H,IGSF9:NM_020789:exon8:c.G818A:p.R273H	.	423	1095	3	0	1	4	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0096617358104	0.0006	0.000199681	0.0006	0.0001	0.0004	0	0	0.0010	0.0035	6.134e-05	0.0006145	95	154602	rs137951399	0.0008	0.0008	0.0008	0.0007	0.0036	0.0007	0.0007	0.0024	0.0021	0.0002	0.0003	3.831e-05	0	7.502e-05	0.0036	0.0009	0.0005	9.279e-05	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0005	0.0002	0	0.0003	0	0	9.409e-05	0.0034	0.0008	0.0005	0	0.321	0.13522	T	0.273	0.32783	T	0.004	0.12183	B	0.007	0.12992	B	0.000705	0.42254	D	0.000000	0.624926	0.30748	N	0.79	0.19579	N	2.7	0.12162	T	0.26	0.04533	N	0.107	0.12055	-0.9955	0.31164	T	0.012	0.04653	T	9	0.025695622	0.00756	T	0.009662	0.25245	T	0.057	0.16321	.	.	0.117191471859	0.11215	0.3376316955010554	0.33676	0.311095576555	0.33413	0.36288946867	0.19806	T	0.031584	0.22107	T	-0.582003	0.00187	T	-0.665132	0.07924	T	0.0147209651291656	0.00307	T	0.789521	0.49719	T	0.015983673	0.00169	0.026964914	0.00817	0.015983673	0.00169	0.026964914	0.00817	-4.424	0.29880	T	.	.	0.069	0.03266	B	.;.;.	.;.;.	1.778642	0.22614	15.69	0.9914885823323214	0.53765	0.53259	0.29328	D	AEFDGBCI	0.165173	0.29164	N	-0.290087326524538	0.29529	1.638418	-0.181907449651757	0.32201	1.829705	0.999922335916344	0.46280	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.63947	0.58350	0	.	.	4.52	3.6	0.40374	-0.235000	0.09031	1.403000	0.26213	-0.242000	0.07441	0.210000	0.24424	1.000000	0.68203	0.464000	0.28207	0.0:0.9048:0.0:0.0952	10.643	0.44796	873	0.30802	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	3313.85	36	chr1	159934568	.	C	T	3313.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.343;DP=848;ExcessHet=0.119;FS=1.724;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.599;SOR=0.825	GT:AD:DP:GQ:PL	0/1:46,65:111:99:1873,0,1262	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:131,46:177:99:150,0,2714	7	0	12	0
chr1	165669311	165669311	C	T	exonic	ALDH9A1	.	nonsynonymous SNV	ALDH9A1:NM_000696:exon7:c.G1070A:p.R357Q,ALDH9A1:NM_001365774:exon7:c.G788A:p.R263Q	.	434	1062	22	4	0	30	0.0139276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00750031395096	0.0007	0.000599042	0.0017	0.0002	0.0010	0	0	0.0007	0.0033	0.0086	0.001423	220	154602	rs139040317	0.0009	0.0009	0.0007	0.0011	0.0109	0.0009	0.0009	0.0088	0.0080	0.0003	0.0010	0.0004	5.039e-05	0	0.0109	0.0005	0.0012	0.0073	0.0006	0.0006	0.0006	0.0006	0.0048	0.0005	0.0005	0.0033	0.0028	9.624e-05	0	0.0007	0.0003	0	0	0.0238	0.0007	0.0009	0.0048	0.506	0.07594	T	0.462	0.12526	T	0.014	0.16867	B	0.007	0.12992	B	0.015373	0.28265	N	0.389406	0.999882	0.19853	N	.	.	.	-0.94	0.75325	T	0.16	0.05217	N	0.294	0.33250	-1.0961	0.04597	T	0.060	0.24945	T	9	0.006780863	0.00154	T	0.007	0.19899	T	0.070	0.20419	.	.	0.467247493403	0.46351	0.524253532125744	0.52349	0.164045148419	0.18510	0.247951298952	0.03555	T	0.091657	0.38842	T	-0.459449	0.00991	T	-0.428037	0.30158	T	0.00793472972963079	0.00093	T	0.950005	0.80823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10449	B	.	.	2.107515	0.26815	17.25	0.95789834834781484	0.27828	0.12773	0.17471	N	AEFBI	0.140069	0.26186	N	-0.785434898264079	0.13689	0.6761632	-0.646976730976338	0.18293	0.9765886	0.78969454586111	0.23993	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.05	1.55	0.22356	0.444000	0.21376	0.226000	0.16132	0.549000	0.26987	0.050000	0.21411	0.008000	0.19753	0.934000	0.47231	0.0:0.6474:0.1562:0.1964	7.056	0.24281	912	0.21483	Aldehyde dehydrogenase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.005051	0.010870	0.023392	0.000000	0.008621	0.006098	0.007576	0.02632	925.33	33	chr1	165669311	.	C	T	925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.671;DP=710;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.482;SOR=0.859	GT:AD:DP:GQ:PL	0/1:42,37:79:99:939,0,1029	18	0	1	0
chr1	167685433	167685433	A	G	exonic	RCSD1	.	nonsynonymous SNV	RCSD1:NM_052862:exon3:c.A121G:p.K41E	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0391877421131	0.0022	0.00119808	0.0017	9.615e-05	0.0011	0	0.0002	0.0028	0.0044	0.0002	0.0017788	275	154602	rs35632798	0.0021	0.0021	0.0020	0.0021	0.0088	0.0020	0.0020	0.0069	0.0062	0.0003	0.0017	0.0011	0	0.0003	0.0088	0.0024	0.0020	0.0003	0.0018	0.0018	0.0019	0.0016	0.0030	0.0016	0.0015	0.0027	0.0026	0.0004	0	0.0016	0.0014	0.0002	0.0004	0	0.0030	0.0043	0	0.006	0.61437	D	0.278	0.60337	T	0.952	0.54136	P	0.612	0.51145	P	0.001409	0.39109	N	0.210283	0.997451	0.81001	D	2.295	0.65404	M	0.26	0.59314	T	-2.77	0.58733	D	0.529	0.55799	-0.7572	0.57556	T	0.158	0.49076	T	9	0.010315359	0.00230	T	0.039188	0.58664	D	0.196	0.47777	.	.	0.727987339678	0.72557	0.40221737891879916	0.40137	0.213919811544	0.23913	0.575663208961	0.49476	T	0.178619	0.52934	T	-0.29159	0.09477	T	-0.195303	0.55092	T	0.0315603842150282	0.02236	T	0.854814	0.54193	D	0.24832115	0.47818	0.29369807	0.55398	0.24832115	0.47818	0.29369807	0.55397	-13.576	0.91597	D	.	.	0.709	0.73322	P	.;.	.;.	4.146194	0.62163	24.4	0.99839720808106169	0.92057	0.93032	0.57154	D	AEFBI	0.609371	0.59859	D	0.405463213415655	0.61721	4.377216	0.372449615563726	0.59871	4.168844	0.999996164551033	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	5.21	4.09	0.47038	5.925000	0.69783	9.156000	0.78970	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9253:0.0:0.0747:0.0	10.782	0.45585	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	822.33	42	chr1	167685433	.	A	G	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.291;DP=720;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-1.246;SOR=0.556	GT:AD:DP:GQ:PL	0/1:38,37:75:99:836,0,1040	18	0	1	0
chr1	170998254	170998254	G	A	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon15:c.G1576A:p.V526I,MROH9:NM_025063:exon15:c.G1576A:p.V526I	.	437	996	79	10	0	99	0.0473458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0069	0.0103834	0.0113	0.0052	0.0071	0.0003	0.0145	0.0092	0.01	0.0312	0.0104268	1612	154602	rs151291051	0.0082	0.0082	0.0075	0.0089	0.0304	0.0081	0.0080	0.0294	0.0290	0.0051	0.0074	0.0143	2.521e-05	0.0129	0.0250	0.0063	0.0101	0.0304	0.0081	0.0082	0.0075	0.0089	0.0313	0.0078	0.0076	0.0273	0.0257	0.0042	0.0077	0.0098	0.0156	0.0006	0.0154	0.0374	0.0074	0.0104	0.0313	0.735	0.03753	T	0.813	0.05165	T	0.226	0.30455	B	0.02	0.19048	B	0.812073	0.09243	N	0.906517	0.999997	0.08975	N	0.09	0.08384	N	-0.2	0.66113	T	-0.26	0.11185	N	0.105	0.08925	-1.0196	0.23845	T	0.031	0.13286	T	10	0.0030203462	0.00049	T	.	.	.	0.057	0.16321	.	.	.	.	0.19145774194199625	0.19063	0.0480783259734	0.05242	0.432100772858	0.29495	T	0.006903	0.06325	T	-0.513668	0.00478	T	-0.487627	0.23639	T	0.0017889166806405	0.00018	T	0.475952	0.14261	T	0.024690988	0.01327	0.026309256	0.00713	0.024690988	0.01327	0.026309256	0.00713	-3.166	0.12070	T	.	.	0.092	0.13644	B	.;.	.;.	0.588054	0.09566	6.340	0.53438278281536755	0.04940	0.00054	0.00410	N	AEFBI	0.014009	0.00207	N	-1.1659067628566	0.05523	0.2520136	-1.09123380210306	0.07872	0.38468	1.92528234130716E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.9	0.44240	1.463000	0.34887	2.664000	0.33900	-1.060000	0.01619	0.008000	0.17931	0.186000	0.23459	0.000000	0.00833	0.8949:0.0:0.1051:0.0	7.275	0.25451	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.035354	0.014946	0.008772	0.150000	0.017241	0.024390	0.030303	0.05263	3176.83	35	chr1	170998254	.	G	A	3176.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.33;DP=835;ExcessHet=0.119;FS=0.461;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.294;SOR=0.661	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1872,0,1145	17	0	2	0
chr1	171623960	171623960	G	A	exonic	MYOCOS	.	nonsynonymous SNV	MYOCOS:NM_001368164:exon2:c.G77A:p.R26Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1024073979	1.624e-05	6.361e-06	1.646e-05	1.602e-05	2.531e-05	4.8e-06	2.56e-06	7.91e-06	4.99e-06	0	0	0	0	0	0	2.531e-05	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26214987	0.43680	T	.	.	.	.	.	.	.	.	.	0.022607673170827233	0.02212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59544	0.22079	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.49922	B	.;.;.;.	.;.;.;.	3.844799	0.55656	23.6	0.85753260679562282	0.16091	0.76694	0.37635	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.978347502055084	0.29912	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.058706	0.01089	0	0.138128	0.26529	4.42	3.5	0.39181	3.522000	0.53236	8.945000	0.78431	0.676000	0.76740	0.966000	0.33990	1.000000	0.68203	0.629000	0.32131	0.0:0.0:0.7975:0.2025	9.934	0.40711	693	0.58582	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	37.15	.	chr1	171623960	.	G	A	37.15	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.383;DP=13;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,63	3	0	1	15
chr1	171796700	171796700	G	T	exonic	EEF1AKNMT	.	nonsynonymous SNV	EEF1AKNMT:NM_001007239:exon8:c.G1576T:p.G526C,EEF1AKNMT:NM_014955:exon8:c.G1786T:p.G596C,EEF1AKNMT:NM_015935:exon8:c.G2044T:p.G682C	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0142771901878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256455729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.56456	D	0.043	0.51112	D	0.993	0.65571	D	0.843	0.60313	P	0.204207	0.16524	N	0.660669	1	0.08975	N	1.355	0.33814	L	1.52	0.30669	T	-1.28	0.39314	N	0.311	0.38541	-1.0524	0.13736	T	0.075	0.30117	T	10	0.22922844	0.39846	T	0.014277	0.34290	T	0.071	0.20720	0.466	0.53729	0.376570364461	0.37271	0.556806068002525	0.55607	0.39487166203	0.40640	0.362710565329	0.19780	T	0.025806	0.19224	T	-0.117578	0.33522	T	-0.406669	0.32609	T	0.303642332553864	0.25154	T	0.806219	0.45479	T	0.2447673	0.47429	0.08714719	0.20237	0.2447673	0.47429	0.08714719	0.20237	-5.361	0.40543	T	.	.	0.112	0.21987	B	.;.;.	.;.;.	2.735801	0.35818	20.0	0.99108363643453612	0.52648	0.35473	0.25310	N	AEFDBI	0.220269	0.34504	N	-0.103115753750504	0.37256	2.164999	-0.133307323767131	0.34056	1.954833	0.999974716734615	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	4.41	0.52588	1.893000	0.39391	6.684000	0.56320	0.676000	0.76740	0.042000	0.21073	1.000000	0.68203	0.993000	0.69303	0.0745:0.1312:0.6592:0.1352	6.181	0.19684	686	0.59327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1606.33	37	chr1	171796700	.	G	T	1606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.963;DP=801;ExcessHet=0;FS=1.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.722;SOR=0.831	GT:AD:DP:GQ:PL	0/1:72,64:136:99:1620,0,2076	18	0	1	0
chr1	172441938	172441938	C	T	exonic	PIGC	.	nonsynonymous SNV	PIGC:NM_002642:exon2:c.G685A:p.V229M,PIGC:NM_153747:exon2:c.G685A:p.V229M	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00548147630535	.	0.00139776	0.0013	0	0	0	0	1.499e-05	0.0011	0.0094	0.0011061	171	154602	rs201517616	0.0007	0.0007	0.0003	0.0010	0.0104	0.0006	0.0006	0.0099	0.0096	0	0	0	2.519e-05	0	0.0014	1.529e-05	0.0005	0.0104	0.0003	0.0004	0.0001	0.0006	0.0106	0.0003	0.0002	0.0083	0.0074	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0106	0.211	0.19569	T	0.213	0.26467	T	0.026	0.19406	B	0.01	0.14941	B	0.032802	0.24980	N	0.429920	1	0.81001	D	0.425	0.12573	N	0.72	0.50976	T	-0.76	0.21215	N	0.181	0.20129	-1.0904	0.05466	T	0.050	0.21104	T	10	0.0064476132	0.00146	T	0.005481	0.14106	T	0.128	0.35103	.	.	0.495103902096	0.49147	0.390145566168953	0.38929	0.178106842575	0.20035	0.601089119911	0.53057	T	0.031728	0.22174	T	-0.348655	0.04812	T	-0.265634	0.48261	T	0.0186891897037596	0.00582	T	0.823018	0.48339	T	0.10861672	0.25682	0.11163073	0.26928	0.11162281	0.26375	0.12535216	0.30203	-4.969	0.36501	T	0.2280594123345949	0.30839	0.091	0.12938	B	.;.	.;.	2.192426	0.27955	17.64	0.96723050565863344	0.30858	0.48899	0.28311	N	AEFDBCI	0.169192	0.29601	N	-0.243578318270333	0.31359	1.757647	-0.0802613298388776	0.36206	2.104163	0.999999323071089	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	0.785000	0.26491	4.053000	0.41524	0.599000	0.40250	0.325000	0.25546	0.999000	0.35428	0.979000	0.57723	0.0:0.9171:0.0:0.0829	11.360	0.48878	650	0.62973	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1760.33	110	chr1	172441938	.	C	T	1760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.978;DP=1820;ExcessHet=0;FS=1.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.339;SOR=0.552	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1774,0,2064	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,34:69:99:0|1:175160809_TC_T:1195,0,1320:175160809	9	2	8	0
chr1	179640414	179640414	C	T	exonic	TDRD5	.	nonsynonymous SNV	TDRD5:NM_001199092:exon8:c.C434T:p.P145L,TDRD5:NM_001199085:exon11:c.C1769T:p.P590L,TDRD5:NM_001199089:exon11:c.C1769T:p.P590L,TDRD5:NM_001199091:exon11:c.C1769T:p.P590L,TDRD5:NM_001349923:exon11:c.C1769T:p.P590L,TDRD5:NM_173533:exon11:c.C1769T:p.P590L	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0094327924169	0.0049	0.00179712	0.0044	0.0014	0.0039	0	0.0002	0.0065	0.0033	0.0020	0.0043208	668	154602	rs147735255	0.0055	0.0055	0.0055	0.0055	0.0064	0.0054	0.0054	0.0061	0.0060	0.0009	0.0049	0.0153	0	0.0006	0.0064	0.0062	0.0049	0.0015	0.0038	0.0038	0.0041	0.0035	0.0056	0.0036	0.0035	0.0052	0.0050	0.0010	0	0.0048	0.0144	0	0.0006	0.0068	0.0056	0.0090	0.0021	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000033	0.55875	D	0.121923	1	0.81001	D	1.85	0.49092	L	3.02	0.08986	T	-5.79	0.88065	D	0.818	0.85979	-1.2374	0.00019	T	0.047	0.20275	T	10	0.012922168	0.00276	T	0.009433	0.24716	T	0.261	0.57352	.	.	0.165150595986	0.16160	0.8111115061867887	0.81066	0.790710806441	0.65771	0.685521006584	0.65062	T	0.178917	0.52973	T	-0.271442	0.11597	T	-0.154723	0.58823	T	0.0180770275562071	0.00530	T	0.948505	0.82243	D	0.55144185	0.70036	0.63792926	0.78855	0.55144185	0.70037	0.63792926	0.78856	-9.633	0.73124	D	.	.	0.744	0.76129	P	.;.;.;.	.;.;.;.	4.927809	0.81218	27.5	0.99896325867876301	0.96895	0.96193	0.67962	D	AEFBI	0.698227	0.65597	D	0.771969629526689	0.84325	8.25668	0.777615321388091	0.88196	9.492901	0.419231557413863	0.20277	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.82	5.82	0.92740	4.947000	0.63283	7.560000	0.60459	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.804	0.85485	546	0.72524	Tudor domain;.;Tudor domain;Tudor 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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1099.33	35	chr1	179640414	.	C	T	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=722;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=2.15;SOR=0.756	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1113,0,1368	18	0	1	0
chr1	201212374	201212374	A	C	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A7481C:p.Q2494P	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0206330498891	.	.	0.0005	0	0	0	0	0.0003	0	0.0009	7.76e-05	12	154602	rs772963834	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0014	0.0011	0	0.0004	7.943e-05	0	0	0.0023	0.0001	0.0004	0.0009	0.0002	0.0002	0.0001	0.0003	0.0017	0.0001	0.0001	0.0008	0.0006	0	0	0.0003	0	0	0	0.0034	0.0002	0.0019	0.0017	0.003	0.68238	D	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.59	0.53943	T	-1.48	0.36189	N	0.312	0.35194	-1.0506	0.14230	T	0.055	0.23300	T	6	0.021378726	0.00510	T	0.020633	0.43263	T	0.031	0.07369	0.297	0.26202	0.158396225186	0.15383	0.39618868168041765	0.39533	.	.	0.445332556963	0.31306	T	.	.	.	-0.54692	0.00304	T	-0.642661	0.09477	T	0.0673590305483617	0.08276	T	0.311569	0.06072	T	.	.	.	.	.	.	.	.	-2.219	0.04133	T	.	.	0.306	0.53487	B	.	.	1.669542	0.21287	15.13	0.96201991973400391	0.29025	0.06405	0.12408	N	AEFDGBI	0.188921	0.31619	N	-0.827365301180256	0.12613	0.6159461	-0.94945074941046	0.10936	0.5540286	3.65596904970674E-4	0.06707	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.88	0.234	0.14661	0.209000	0.17231	-0.386000	0.09508	0.679000	0.82387	0.003000	0.16062	0.000000	0.08366	0.717000	0.34675	0.4134:0.1856:0.2193:0.1817	0.435	0.00445	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1656.33	68	chr1	201212374	.	A	C	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.144;DP=1314;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.57;SOR=0.737	GT:AD:DP:GQ:PL	0/1:84,64:148:99:1670,0,2399	18	0	1	0
chr1	203179557	203179557	G	A	exonic	CHI3L1	.	nonsynonymous SNV	CHI3L1:NM_001276:exon10:c.C1040T:p.A347V	.	.	.	.	.	.	.	.	.	.	.	3300899	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0191133719927	.	0.000199681	8.438e-05	0	0	0.0006	0	3.067e-05	0	0.0002	7.12e-05	11	154602	rs527531482	3.502e-05	4.241e-05	3.41e-05	3.595e-05	0.0006	2.707e-05	2.447e-05	0.0004	0.0003	2.997e-05	4.488e-05	0	0.0006	0	0	3.611e-06	6.659e-05	0.0002	9.848e-05	9.842e-05	7.709e-05	0.0001	0.0005	6.002e-05	4.876e-05	0.0003	0.0002	2.405e-05	0	0.0005	0	0.0004	0	0	1.47e-05	0.0009	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000271	0.46590	D	0.000000	0.979151	0.39533	D	2.975	0.85398	M	3.34	0.06063	T	-3.11	0.63669	D	0.147	0.14905	-1.0973	0.04433	T	0.069	0.28346	T	10	0.33126026	0.50351	T	0.019113	0.41382	T	0.258	0.56959	0.864	0.95995	0.392547445146	0.38869	0.5168295949886434	0.51605	0.398618698346	0.40916	0.373900473118	0.21389	T	0.341965	0.71080	T	-0.349936	0.04732	T	-0.341555	0.40169	T	0.562225699424744	0.34939	D	0.974702	0.91007	D	0.8849571	0.90079	0.78760976	0.87497	0.8849571	0.90080	0.78760976	0.87498	-7.716	0.59119	D	.	.	0.416	0.60464	A	.	.	4.372822	0.67337	25.1	0.99888030097410863	0.96281	0.76541	0.37547	D	AEFBCI	0.511944	0.54036	D	0.639563358947231	0.75696	6.351653	0.520007244110961	0.69337	5.346062	0.999993822684443	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.7	3.78	0.42629	4.387000	0.59391	3.235000	0.36931	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.098:0.1786:0.7234:0.0	6.769	0.22771	884	0.28482	Glycoside hydrolase family 18, catalytic domain|Chitinase II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2587.83	61	chr1	203179557	.	G	A	2587.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.56;DP=924;ExcessHet=0.119;FS=1.719;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.23;SOR=0.573	GT:AD:DP:GQ:PL	0/1:50,39:89:99:1091,0,1229	17	0	2	0
chr1	205064636	205064636	C	A	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon12:c.C1405A:p.P469T,CNTN2:NM_005076:exon12:c.C1405A:p.P469T	.	429	1082	11	0	0	11	0.00505747	.	.	.	447696	CNTN2-related_disorder|Epilepsy,_familial_adult_myoclonic,_5	.|MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0209714001438	0.0015	0.00139776	0.0017	0	0.0022	0	0	0.0023	0.0033	0.0015	0.0016623	257	154602	rs147693556	0.0021	0.0021	0.0020	0.0022	0.0068	0.0021	0.0020	0.0051	0.0045	0.0002	0.0015	0.0013	0	7.488e-05	0.0068	0.0024	0.0026	0.0019	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0020	0.0019	0.0002	0.0263	0.0024	0.0014	0	0	0.0068	0.0023	0.0028	0.0017	0.245	0.17410	T	0.483	0.11795	T	0.066	0.23586	B	0.102	0.30857	B	0.517359	0.11780	N	0.739987	0.764271	0.29506	N	1.065	0.27018	L	-0.18	0.65747	T	-1.58	0.38151	N	0.072	0.04547	-0.8319	0.53178	T	0.158	0.49161	T	10	0.0072214603	0.00164	T	0.020971	0.43663	T	0.041	0.10877	.	.	0.805989234046	0.80417	0.4562943859375925	0.45547	0.522610008405	0.49982	0.364295601845	0.20009	T	0.181402	0.53306	T	-0.442972	0.01242	T	-0.413379	0.31838	T	0.00727820218271539	0.00083	T	0.842016	0.51794	T	0.071878	0.15946	0.073502965	0.15979	0.071878	0.15945	0.073502965	0.15979	-6.144	0.47468	T	.	.	0.140	0.30739	B	.;.;.	.;.;.	2.564007	0.33215	19.27	0.92072947739311206	0.21420	0.83970	0.43059	D	AEFDBI	0.484428	0.52445	N	-0.266440301799545	0.30453	1.69816	-0.174129710219315	0.32491	1.849031	0.602848110557931	0.21740	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.47	3.54	0.39650	1.201000	0.31866	3.305000	0.37415	0.599000	0.40250	0.110000	0.22992	0.121000	0.22902	0.987000	0.62547	0.0:0.5243:0.3971:0.0786	9.444	0.37847	369	0.84396	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.000000	0.000000	0.008621	0.012195	0.003788	0.05263	2524.83	40	chr1	205064636	.	C	A	2524.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.674;DP=879;ExcessHet=0.119;FS=5.524;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.31;SOR=0.898	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1297,0,1569	17	0	2	0
chr1	205531347	205531347	G	A	exonic	CDK18	.	nonsynonymous SNV	CDK18:NM_002596:exon16:c.G1394A:p.R465Q,CDK18:NM_212502:exon16:c.G1394A:p.R465Q,CDK18:NM_212503:exon16:c.G1484A:p.R495Q	.	9	1512	1	0	0	1	0.000330579	.	.	.	2371095	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0546977282733	0.0012	.	0.0006	0.0005	0.0016	0.0001	0	0.0006	0	0	0.0005304	82	154602	rs146562756	0.0010	0.0010	0.0011	0.0009	0.0012	0.0010	0.0010	0.0012	0.0011	0.0008	0.0011	0	7.557e-05	0	0	0.0012	0.0008	9.275e-05	0.0006	0.0006	0.0007	0.0005	0.0008	0.0005	0.0004	0.0006	0.0006	0.0007	0	6.533e-05	0	0.0002	9.418e-05	0	0.0008	0.0014	0	0.059	0.37536	T	0.072	0.43344	T	0.286	0.32207	B	0.091	0.29943	B	0.009530	0.30318	N	0.241831	0.99986	0.50061	D	.	.	.	-0.44	0.70133	T	-1.0	0.26639	N	0.373	0.41459	-0.5329	0.67432	T	0.285	0.65734	T	10	0.03339845	0.01515	T	0.054698	0.65953	D	0.094	0.27141	.	.	0.830448417902	0.82884	0.6001836697950509	0.59949	0.32683426685	0.34824	0.448515862226	0.31740	T	.	.	.	-0.405331	0.02135	T	-0.361482	0.37880	T	0.0103919967974922	0.00143	T	0.909109	0.67839	D	0.08996369	0.21035	0.089294486	0.20874	0.08996369	0.21035	0.089294486	0.20873	-1.791	0.02482	T	.	.	0.092	0.27192	B	.;.;.	.;.;.	3.965498	0.58188	23.9	0.99797144523603021	0.88194	0.87222	0.46697	D	AEFGBI	0.591992	0.58787	D	-0.0126407209430334	0.41283	2.466576	0.0603666403503871	0.42574	2.577573	0.998448086308806	0.36977	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	4.08	4.08	0.46880	2.864000	0.48103	7.569000	0.60664	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	12.992	0.58025	808	0.43318	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1671.33	33	chr1	205531347	.	G	A	1671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.514;DP=791;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=2.83;SOR=0.761	GT:AD:DP:GQ:PL	0/1:57,71:128:99:1685,0,1335	18	0	1	0
chr1	207609528	207609528	A	T	exonic	CR1	.	nonsynonymous SNV	CR1:NM_000573:exon29:c.A4785T:p.E1595D,CR1:NM_001381851:exon29:c.A4785T:p.E1595D,CR1:NM_000651:exon37:c.A6135T:p.E2045D	CR1 deficiency (1)	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0129233858744	.	0.000599042	0.0003	0	0	0	0	0	0	0.0026	0.0002911	45	154602	rs533388914	0.0001	0.0001	6.535e-05	0.0002	0.0018	0.0001	9.568e-05	0.0015	0.0014	2.987e-05	0	0	0	0	0.0003	5.396e-06	0.0001	0.0018	7.88e-05	7.874e-05	1.285e-05	0.0001	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.158	0.42199	T	0.104	0.45318	T	0.024	0.57405	B	0.011	0.56004	B	.	.	.	.	1	0.08975	N	.	.	.	-0.09	0.64086	T	-0.88	0.31375	N	0.072	0.09772	-0.8593	0.51312	T	0.218	0.57994	T	9	0.0113388	0.00248	T	0.012923	0.31907	T	0.150	0.39571	0.483	0.56462	0.522290170867	0.51874	0.45268115568614414	0.45186	0.37776733009	0.39206	0.297674357891	0.10055	T	.	.	.	-0.514185	0.00475	T	-0.518631	0.20434	T	0.0143256858935784	0.00286	T	0.132687	0.01257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.40842	B	.;.;.;.;.	.;.;.;.;.	-0.198783	0.03097	0.489	0.85119539727310922	0.15697	0.01228	0.04347	N	AEFI	0.049199	0.08476	N	-0.9807194414398	0.09015	0.4249954	-1.21670493031018	0.05640	0.2693407	3.70974777143252E-4	0.06707	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.54	-4.92	0.02848	-0.409000	0.07223	-6.971000	0.01261	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.824000	0.38829	0.2868:0.5368:0.0:0.1764	5.608	0.16669	743	0.52768	.;.;.;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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1694.33	34	chr1	207609528	.	A	T	1694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.625;DP=999;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.505;SOR=0.92	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1708,0,1791	18	0	1	0
chr1	214644695	214644695	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.A5125G:p.I1709V	Stromme syndrome, Autosomal recessive	427	1094	1	0	0	1	0.00045683	.	.	.	4109694	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00386734004913	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904491544	4.789e-06	4.788e-06	5.445e-06	4.126e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	3.597e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.05881	T	0.802	0.04041	T	.	.	.	.	.	.	0.620050	0.10786	N	0.759033	1	0.08975	N	.	.	.	4.01	0.03208	T	-0.05	0.07736	N	0.056	0.02759	-0.9022	0.47760	T	0.005	0.01797	T	10	0.04119876	0.02754	T	0.003867	0.09086	T	0.024	0.04979	.	.	0.0666544352282	0.05500	0.03934519502304899	0.03880	0.0470558168492	0.05126	0.273653805256	0.06623	T	.	.	.	-0.417049	0.01787	T	-0.836838	0.01147	T	0.0220588298611661	0.00916	T	0.352865	0.07937	T	0.018694324	0.00392	0.020020457	0.00115	0.018694324	0.00392	0.020020457	0.00115	-3.163	0.12034	T	.	.	0.078	0.06756	B	.	.	-0.902206	0.00922	0.035	0.18074768085870221	0.00553	0.12466	0.17286	N	AEBCI	0.037268	0.05099	N	-1.37494397980221	0.02874	0.1275643	-1.38038927266021	0.03461	0.1615036	0.779067601253488	0.23807	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	-1.47	0.08312	-0.061000	0.11650	-0.511000	0.08745	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.067000	0.16453	0.4368:0.1251:0.3012:0.1369	1.698	0.02694	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	33	chr1	214644695	.	A	G	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.623;DP=733;ExcessHet=0;FS=0.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.338;SOR=0.553	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1459,0,1380	18	0	1	0
chr1	214646928	214646928	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7358C:p.R2453T	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00712553887273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	0.0001	1.364e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	0.155	0.31936	T	.	.	.	.	.	.	0.662890	0.10412	N	0.800711	1	0.08975	N	.	.	.	4.12	0.02891	T	-1.2	0.30555	N	0.086	0.06322	-0.8929	0.48677	T	0.004	0.01400	T	10	0.042184114	0.02943	T	0.007126	0.18896	T	0.040	0.10527	.	.	0.0611884634855	0.05136	0.0757247840033901	0.07508	0.0964886587777	0.10898	0.305488526821	0.11225	T	.	.	.	-0.357922	0.04248	T	-0.751907	0.03412	T	0.078707791864872	0.09821	T	0.586341	0.21412	T	0.023646625	0.01122	0.026679387	0.00771	0.023646625	0.01122	0.026679387	0.00771	-0.003	0.00350	T	.	.	0.053	0.00280	B	.	.	0.422405	0.07928	4.638	0.30367532224271809	0.01657	0.11969	0.16977	N	AEFBCI	0.060270	0.11442	N	-1.24191438059187	0.04407	0.1988328	-1.17781697995167	0.06282	0.3018846	0.831134689009249	0.24696	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	1.68	0.23219	2.487000	0.44926	4.177000	0.42312	-0.142000	0.12367	0.512000	0.27048	0.990000	0.31317	0.015000	0.10482	0.6981:0.1476:0.1543:0.0	5.783	0.17581	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1127.73	96	chr1	214646928	.	G	C	1127.73	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.846;DP=1307;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.1029;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,25:74:99:0|1:214646928_G_C:528,0,1867:214646928	16	0	2	1
chr1	214646930	214646930	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7360C:p.V2454L	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00381706677572	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	2.204e-05	0.0007	2.469e-05	1.937e-05	2.72e-05	1.595e-05	1.365e-05	1.929e-05	1.674e-05	0	0	0	0	0	0	2.72e-05	0	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.487	0.11656	T	.	.	.	.	.	.	0.566742	0.11280	N	0.718309	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.12	0.08809	N	0.073	0.04668	-0.9310	0.43992	T	0.006	0.02093	T	10	0.0506604	0.04832	T	0.003817	0.08930	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.042620842135663806	0.04207	0.0532628163546	0.05870	0.319711267948	0.13377	T	.	.	.	-0.296986	0.08946	T	-0.664376	0.07973	T	0.0218487251549959	0.00892	T	0.460354	0.13329	T	0.018291825	0.00350	0.023291185	0.00344	0.018291825	0.00350	0.023291185	0.00344	-5.111	0.38023	T	.	.	0.141	0.30997	B	.	.	-0.701800	0.01316	0.072	0.77479503225080271	0.11893	0.09240	0.15036	N	AEFBCI	0.049360	0.08519	N	-1.32844011772452	0.03354	0.1496695	-1.42160385817231	0.03037	0.1408993	0.998312909651027	0.36741	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	-6.04	0.01995	-0.544000	0.06166	0.537000	0.19299	-0.177000	0.10537	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.5449:0.1791:0.1778:0.0981	3.579	0.07497	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.69	97	chr1	214646930	.	G	C	521.69	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.687;DP=1148;ExcessHet=0.3672;FS=272.812;InbreedingCoeff=-0.329;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,25:74:99:0|1:214646928_G_C:528,0,1867:214646928	6	0	1	12
chr1	214646931	214646931	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T7361C:p.V2454A	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3540567	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00974191051461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.159e-06	4.797e-05	2.875e-06	1.441e-06	2.847e-06	5.8e-07	1.6e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.847e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.072	0.43344	T	.	.	.	.	.	.	0.566742	0.11280	N	0.718309	1	0.08975	N	.	.	.	4.0	0.03239	T	-1.36	0.33798	N	0.179	0.19325	-0.9649	0.38230	T	0.012	0.04795	T	10	0.092561364	0.16310	T	0.009742	0.25427	T	0.070	0.20419	.	.	0.152612264143	0.14878	0.04371255466377703	0.04316	0.0909071673723	0.10264	0.333911955357	0.15524	T	.	.	.	-0.242065	0.15086	T	-0.585486	0.14060	T	0.237755138924087	0.22315	T	0.333767	0.07077	T	0.046866454	0.07918	0.049815547	0.07689	0.046866454	0.07917	0.049815547	0.07688	-6.837	0.52834	T	.	.	0.139	0.30529	B	.	.	0.689044	0.10575	7.283	0.87599106332301113	0.17343	0.46589	0.27793	N	AEFBCI	0.075119	0.15077	N	-0.562916688312051	0.20081	1.055942	-0.606986143950877	0.19313	1.035632	0.992357406538036	0.32809	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	4.15	0.47978	1.863000	0.39097	0.125000	0.14969	0.644000	0.52426	0.011000	0.18532	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.1478:0.8522	11.743	0.51072	902	0.24074	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	526.21	97	chr1	214646931	.	T	C	526.21	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.344;DP=1165;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.3818;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=3.24;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,25:73:99:0|1:214646928_G_C:530,0,1860:214646928	3	0	1	15
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1471	131.11	54	chr1	220074013	.	G	A	131.11	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-3.058;DP=1660;ExcessHet=1.3;FS=292.203;InbreedingCoeff=-0.1978;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.63;SOR=11.716	GT:AD:DP:GQ:PL	0/1:78,30:122:15:15,0,1350	12	0	5	2
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:69,25:94:1:1,0,1068	8	0	11	0
chr1	222629720	222629720	A	G	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.A2500G:p.I834V,MIA3:NM_001324063:exon4:c.A2500G:p.I834V,MIA3:NM_198551:exon4:c.A2500G:p.I834V,MIA3:NM_001324064:exon5:c.A2008G:p.I670V	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0053	0.00339457	0.0063	0.0016	0.0047	0	0.0067	0.0088	0.0101	0.0032	0.0061383	949	154602	rs79054337	0.0075	0.0075	0.0076	0.0074	0.0086	0.0074	0.0073	0.0084	0.0084	0.0013	0.0045	0.0007	0	0.0078	0.0036	0.0086	0.0072	0.0036	0.0055	0.0055	0.0055	0.0055	0.0084	0.0052	0.0051	0.0079	0.0076	0.0015	0.0044	0.0048	0	0	0.0079	0.0068	0.0084	0.0076	0.0048	0.071	0.35165	T	0.636	0.07059	T	0.017	0.17573	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	0.14	0.05405	N	0.06	0.03175	-0.9047	0.47481	T	0.007	0.02360	T	9	0.0034705698	0.00061	T	.	.	.	0.010	0.01040	.	.	0.126345400529	0.12197	0.02975397248211301	0.02924	0.0474528487497	0.05180	0.231261909008	0.02063	T	2.94E-4	0.00073	T	-0.674629	0.00052	T	-0.735578	0.04079	T	0.00121981089687263	0.00012	T	0.264874	0.04312	T	0.018474111	0.00368	0.0287193	0.01134	0.018474111	0.00368	0.0287193	0.01134	-2.737	0.07619	T	.	.	0.071	0.03887	B	.	.	-1.077967	0.00667	0.019	0.19956957880846973	0.00697	0.02504	0.06993	N	AEFBCI	0.020073	0.00756	N	-1.18086869438657	0.05290	0.2407763	-1.24845453336349	0.05154	0.2448985	0.988158556269713	0.31431	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.23	-1.89	0.07271	-0.116000	0.10697	-0.546000	0.08555	-0.056000	0.16711	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3763:0.3183:0.3054:0.0	4.205	0.09939	910	0.22284	.	.	.	.	.	rs79054337	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	2874.83	39	chr1	222629720	.	A	G	2874.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.789;DP=1254;ExcessHet=0.119;FS=0.457;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.765;SOR=0.649	GT:AD:DP:GQ:PL	0/1:70,56:126:99:1297,0,1831	17	0	2	0
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	1172.62	36	chr1	225353862	.	C	G	1172.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.853;DP=1106;ExcessHet=2.0135;FS=185.32;InbreedingCoeff=-0.246;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=2.05;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:99:0|1:225353861_A_G:147,0,2318:225353861	14	0	2	3
chr1	225399269	225399269	A	T	exonic	DNAH14	.	stoploss	DNAH14:NM_001367479:exon86:c.A13854T:p.X4618Y	.	446	1055	19	2	0	23	0.0107829	.	.	.	2816106	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0088	0.00199681	0.0080	0.0010	0.0110	0	0.0043	0.0100	0.0169	0.0086	0.0021863	338	154602	rs41305733	0.0082	0.0079	0.0080	0.0083	0.0095	0.0080	0.0080	0.0090	0.0090	0.0014	0.0033	0.0024	5.601e-05	0.0049	0.0095	0.0092	0.0074	0.0068	0.0064	0.0064	0.0066	0.0062	0.0101	0.0060	0.0059	0.0094	0.0092	0.0015	0.0230	0.0055	0.0029	0	0.0062	0.0034	0.0101	0.0052	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.159	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2275	0.16981	T	-0.0891767	0.64224	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.245676	0.06257	2.709	0.77826113864670554	0.12038	0.85190	0.44301	D	AEFDBI	.	.	.	-0.120048347955809	0.36520	2.11208	-0.146601085914856	0.33539	1.919571	0.282508983074451	0.19002	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.09929	0.02979	0	0.224045	0.31500	4.38	3.25	0.36363	1.885000	0.39312	5.840000	0.50240	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.149000	0.20271	0.8996:0.0:0.1004:0.0	7.546	0.26936	634	0.64659	.;.;.	DNAH14	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005063	0.000000	0.000000	0.013514	0.083333	0.000000	0.000000	0.013514	0.02632	1138.33	41	chr1	225399269	.	A	T	1138.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.172;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.083;SOR=0.786	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1152,0,1199	18	0	1	0
chr1	226736078	226736078	G	A	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1381T:p.P461S	.	416	1093	13	0	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0058520548027	0.0038	0.00199681	0.0042	0.0009	0.0029	0	0.0076	0.0057	0.0046	0.0018	0.0041785	646	154602	rs35823273	0.0057	0.0057	0.0059	0.0055	0.0066	0.0056	0.0055	0.0065	0.0064	0.0007	0.0038	0.0005	0	0.0063	0.0036	0.0066	0.0047	0.0013	0.0039	0.0040	0.0040	0.0039	0.0056	0.0037	0.0036	0.0052	0.0050	0.0014	0	0.0048	0	0	0.0059	0.0102	0.0056	0.0076	0.0012	0.006	0.61437	D	0.159	0.31527	T	0.004	0.12183	B	0.001	0.04355	B	0.605134	0.05669	N	1.218330	1	0.08975	N	1.59	0.40313	L	1.91	0.23884	T	-1.1	0.45949	N	0.085	0.09772	-1.0086	0.27354	T	0.030	0.13111	T	10	0.0029485524	0.00048	T	0.005852	0.15221	T	0.010	0.01040	.	.	0.15499578495	0.15088	0.1655494960861756	0.16474	0.220717340205	0.24616	0.3121702075	0.12234	T	0.10461	0.41432	T	-0.656521	0.00066	T	-0.711818	0.05202	T	0.00888768240221218	0.00110	T	0.715028	0.32735	T	0.037487682	0.04815	0.039302062	0.03991	0.037487682	0.04814	0.039302062	0.03991	-3.887	0.22107	T	.	.	0.098	0.26169	B	.;.;.	.;.;.	0.456012	0.08259	5.002	0.87226867123142804	0.17077	0.13638	0.17968	N	AEFDBCI	0.057724	0.10777	N	-1.12461960622711	0.06208	0.2851443	-1.11758231121098	0.07364	0.3579239	0.999969596572789	0.48965	0.627647	0.40530	0	0.672317	0.65289	0	0.654045	0.52621	0	0.635551	0.53088	0	.	.	5.07	2.12	0.26372	0.760000	0.26140	1.791000	0.28799	-0.250000	0.07158	0.026000	0.20160	0.024000	0.20971	0.061000	0.16044	0.1848:0.1667:0.6485:0.0	5.365	0.15413	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.002717	0.002924	0.000000	0.000000	0.012195	0.003788	0.02632	3396.33	82	chr1	226736078	.	G	A	3396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.864;DP=1607;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=1.12;SOR=0.699	GT:AD:DP:GQ:PL	0/1:102,129:231:99:3410,0,2587	18	0	1	0
chr1	228340062	228340062	G	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon70:c.G17376C:p.E5792D,OBSCN:NM_052843:exon70:c.G17376C:p.E5792D,OBSCN:NM_001271223:exon81:c.G20247C:p.E6749D	.	1	1517	4	0	0	4	0.00131666	.	.	.	3363044	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.0413067154791	.	.	9.289e-05	0	0.0004	0	0	6.121e-05	0	0.0002	7.12e-05	11	154602	rs574673430	6.227e-05	6.225e-05	5.855e-05	6.602e-05	0.0029	5.162e-05	4.781e-05	0.0019	0.0015	0	0.0005	3.826e-05	0	5.634e-05	0.0029	3.058e-05	0.0001	4.637e-05	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	8.713e-05	0.0006	0.0005	2.407e-05	0	0.0010	0	0	0	0.0068	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.989	0.64070	D	0.783	0.61339	P	0.000001	0.84330	D	0.000000	0.997757	0.49910	D	1.715	0.44382	L	-0.05	0.63403	T	-2.29	0.53420	N	0.482	0.51672	-0.7941	0.55491	T	0.218	0.58111	T	10	0.30759162	0.48261	T	0.041307	0.59855	D	0.374	0.69273	0.681	0.81885	0.763175185089	0.76102	0.6678747352553052	0.66725	0.468134351491	0.46167	0.562715768814	0.47650	T	0.095438	0.39620	T	-0.217022	0.18401	T	-0.208964	0.53794	T	0.327340513467789	0.26118	T	0.905909	0.66829	D	0.74296564	0.80462	0.60450983	0.77013	0.77708894	0.82477	0.75184536	0.85333	-9.843	0.73708	D	.	.	0.600	0.68875	P	.;.;.;.;.	.;.;.;.;.	2.515474	0.32499	19.06	0.98324164231465971	0.40270	0.97200	0.73280	D	AEFBI	0.585687	0.58402	D	0.0609483865382512	0.44648	2.734988	0.0871753744144095	0.43900	2.682445	0.0194894746638058	0.13166	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.98	4.06	0.46572	3.547000	0.53416	4.428000	0.43340	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0815:0.0:0.9185:0.0	12.565	0.55652	436	0.80373	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.005051	0.001359	0.011696	0.000000	0.000000	0.003049	0.000000	0.02632	1738.33	34	chr1	228340062	.	G	C	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.495;SOR=0.74	GT:AD:DP:GQ:PL	0/1:77,70:147:99:1752,0,1861	18	0	1	0
chr1	235806228	235806228	T	G	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon6:c.A2908C:p.I970L,LYST:NM_001301365:exon6:c.A2908C:p.I970L	Chediak-Higashi syndrome, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	281455	Chédiak-Higashi_syndrome|not_provided|Autoinflammatory_syndrome	MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.045	.	.	0.00239617	0.0018	0	8.66e-05	0	0	0	0.0022	0.0128	0.0015394	238	154602	rs539146732	0.0008	0.0008	0.0004	0.0012	0.0127	0.0008	0.0007	0.0121	0.0118	0.0002	0	0	7.559e-05	0	0.0005	6.295e-06	0.0007	0.0127	0.0004	0.0004	0.0003	0.0005	0.0120	0.0003	0.0003	0.0096	0.0087	2.407e-05	0	0	0	0	0	0	0	0	0.0120	0.342	0.12632	T	0.202	0.27503	T	0.002	0.09854	B	0.005	0.11217	B	0.003950	0.34294	N	0.351796	0.639331	0.34567	D	1.935	0.51832	L	0.01	0.62459	T	-0.73	0.20576	N	0.251	0.28381	-1.0137	0.25752	T	0.112	0.40099	T	10	0.008667737	0.00196	T	.	.	.	0.045	0.12272	0.388	0.40951	0.371749281113	0.36790	0.32245937565489874	0.32158	0.0771124268482	0.08663	0.406096100807	0.25916	T	0.08072	0.36429	T	-0.441636	0.01265	T	-0.396125	0.33835	T	0.0367141560000713	0.03105	T	0.740126	0.35895	T	0.1109783	0.26229	0.06712312	0.13842	0.10566528	0.24982	0.07858819	0.17616	-1.199	0.01249	T	0.15250481438970478	0.18072	0.127	0.27039	B	.;.	.;.	2.111193	0.26865	17.27	0.93577659375608391	0.23422	0.86489	0.45780	D	AEFDBIJ	0.190495	0.31772	N	-0.413881920941514	0.24982	1.352839	-0.233779997560259	0.30335	1.707054	0.00813298355094687	0.11617	0.562547	0.31514	0	0.588015	0.36545	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	5.7	3.33	0.37245	0.733000	0.25754	0.636000	0.20274	0.665000	0.62972	1.000000	0.71638	0.993000	0.31925	1.000000	0.97212	0.1313:0.0724:0.2724:0.5239	3.107	0.05962	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2682.33	34	chr1	235806228	.	T	G	2682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.687;DP=795;ExcessHet=0;FS=2.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.354;SOR=0.801	GT:AD:DP:GQ:PL	0/1:74,97:171:99:2696,0,2095	18	0	1	0
chr1	236017198	236017198	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.G2204A:p.R735H	.	425	1034	60	3	0	66	0.0309278	.	.	.	696593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.575	.	0.0035	0.00758786	0.0087	0.0014	0.0035	0.0003	0.0194	0.0075	0.0088	0.0220	0.0078654	1216	154602	rs140374909	0.0060	0.0060	0.0054	0.0066	0.0298	0.0059	0.0059	0.0262	0.0248	0.0016	0.0038	0.0204	0.0004	0.0201	0.0298	0.0041	0.0076	0.0211	0.0058	0.0059	0.0049	0.0068	0.0193	0.0055	0.0054	0.0162	0.0150	0.0013	0	0.0065	0.0204	0.0010	0.0193	0.0274	0.0050	0.0062	0.0193	0.065	0.36310	T	0.051	0.47828	T	0.562	0.38380	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	-3.04	0.92357	D	-4.0	0.74051	D	0.899	0.89912	0.218	0.86206	D	0.586	0.85136	D	10	0.02833268	0.00966	T	.	.	.	0.575	0.82799	.	.	0.877072477656	0.87587	0.5254772813322914	0.52471	0.862312818367	0.69017	0.457313537598	0.32942	T	0.474465	0.80590	T	-0.00145907	0.51454	T	0.240723	0.85180	D	0.0331431175979164	0.02495	T	0.853215	0.53849	D	0.27889568	0.50942	0.32720947	0.58620	0.27032858	0.50105	0.32720947	0.58620	-5.801	0.44583	T	0.3513368987681945	0.44852	0.073	0.04640	B	.	.	4.355198	0.66921	25.0	0.99925081920638503	0.99042	0.95391	0.64536	D	AEFBCI	0.942119	0.94628	D	0.369368960004452	0.59769	4.159	0.514997655487685	0.68997	5.298048	0.999999999999993	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.548000	0.81103	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.340	0.98759	464	0.78488	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034778	0.015152	0.033967	0.047059	0.000000	0.034483	0.045732	0.018939	0.1053	5515.43	33	chr1	236017198	.	C	T	5515.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.22;DP=1025;ExcessHet=0.7564;FS=1.101;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.766;SOR=0.816	GT:AD:DP:GQ:PL	0/1:69,64:133:99:1535,0,1544	15	0	4	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	458.79	71	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	458.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.812;DP=1180;ExcessHet=0.3672;FS=2.692;InbreedingCoeff=-0.0109;MLEAC=3;MLEAF=0.079;MQ=59.24;MQRankSum=0;QD=5.21;ReadPosRankSum=-0.566;SOR=0.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,7:10:50:0|1:240207647_G_GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:108,0,50:240207647	16	0	3	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	385.43	34	chr1	243330649	.	T	C	385.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.858;DP=1567;ExcessHet=0.7564;FS=118.041;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.5;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:196,41:237:62:.:.:62,0,4133:.	15	0	4	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,23:83:99:.:.:123,0,901:.	2	0	17	0
chr2	27137101	27137101	G	T	exonic	PRR30	.	stopgain	PRR30:NM_178553:exon3:c.C1229A:p.S410X	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0004	0	8.681e-05	0	0	0	0	0.0027	0.0003234	50	154602	rs558366083	0.0002	0.0002	7.351e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	0	0.0001	0.0025	7.221e-05	7.217e-05	2.57e-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	.	.	.	.	.	.	.	.	.	.	.	.	0.220181	0.16157	N	0.366909	0.992975	0.23793	N	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120688	0.66441	D	0.39628	0.91990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.453542	0.91083	32	0.9882326600314022	0.46819	0.07937	0.13923	N	AEFBI	0.047655	0.08047	N	0.12335446963655	0.47553	2.979482	-0.16830377074565	0.32710	1.86368	0.3283771307675	0.19459	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.85	3.06	0.34374	0.163000	0.16338	0.044000	0.13909	0.586000	0.30580	0.001000	0.13787	0.000000	0.08366	0.302000	0.24547	0.2001:0.0:0.7999:0.0	7.241	0.25272	319	0.87030	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1230.33	34	chr2	27137101	.	G	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.166;DP=725;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-1.758;SOR=0.582	GT:AD:DP:GQ:PL	0/1:26,50:76:99:1244,0,672	18	0	1	0
chr2	33280135	33280135	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon15:c.G2111A:p.R704Q,LTBP1:NM_001166264:exon15:c.G2111A:p.R704Q,LTBP1:NM_001166265:exon15:c.G1952A:p.R651Q,LTBP1:NM_001166266:exon15:c.G1952A:p.R651Q,LTBP1:NM_206943:exon19:c.G3089A:p.R1030Q	.	428	1036	52	6	0	64	0.0299625	.	.	.	719864	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0032	0.00638978	0.0065	0.0005	0.0025	0	0.0018	0.0049	0.0110	0.0247	0.0059637	922	154602	rs61754247	0.0045	0.0045	0.0037	0.0053	0.0251	0.0044	0.0044	0.0242	0.0239	0.0004	0.0026	0.0098	0	0.0024	0.0163	0.0032	0.0048	0.0251	0.0036	0.0036	0.0031	0.0041	0.0228	0.0033	0.0032	0.0194	0.0181	0.0005	0.0055	0.0043	0.0069	0.0004	0.0021	0.0102	0.0041	0.0061	0.0228	0.154	0.31088	T	0.086	0.40909	T	0.059	0.23051	B	0.019	0.18783	B	.	.	.	.	0.823765	0.34814	D	0.12	0.08593	N	-2.22	0.87038	D	-1.72	0.44852	N	0.216	0.30461	-0.4979	0.68725	T	0.311	0.68157	T	9	0.00931707	0.00210	T	.	.	.	0.266	0.57999	.	.	0.147330786459	0.14319	0.3750624688550842	0.37420	0.156418775729	0.17651	0.336470723152	0.15909	T	0.439289	0.78463	T	-0.350134	0.04718	T	-0.256795	0.49144	T	0.0132996338947798	0.00238	T	0.776522	0.40874	T	0.05123657	0.09380	0.08955381	0.20949	0.05123657	0.09380	0.08955381	0.20948	-4.954	0.36336	T	.	.	0.079	0.07460	B	.;.;.;.;.	.;.;.;.;.	3.118524	0.42097	21.5	0.99195457660073694	0.55112	0.83638	0.42742	D	AEFBI	0.184274	0.31160	N	-0.402969708021339	0.25365	1.376381	-0.197852517081355	0.31615	1.790878	0.975626632394486	0.29650	0.706548	0.73137	0	0.610034	0.51514	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.53	3.73	0.41982	2.280000	0.43103	3.427000	0.38290	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.2116:0.0:0.7884:0.0	9.817	0.40028	849	0.35778	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|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	0	0	1	0	0.012097	0.015306	0.008152	0.005848	0.000000	0.008621	0.024390	0.015152	0.02632	1119.33	33	chr2	33280135	.	G	A	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.696;DP=716;ExcessHet=0;FS=2.972;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.069;SOR=0.391	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1133,0,962	18	0	1	0
chr2	37223207	37223207	G	A	exonic	CEBPZ	.	nonsynonymous SNV	CEBPZ:NM_005760:exon3:c.C1844T:p.A615V	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0101043531077	0.0017	0.00179712	0.0031	0.0007	0.0014	0	0.0098	0.0038	0.0011	0.0022	0.0030918	478	154602	rs34983085	0.0034	0.0034	0.0035	0.0033	0.0037	0.0033	0.0033	0.0036	0.0035	0.0004	0.0019	3.827e-05	0	0.0079	0.0014	0.0037	0.0034	0.0022	0.0025	0.0025	0.0023	0.0028	0.0033	0.0023	0.0022	0.0029	0.0028	0.0007	0	0.0027	0	0	0.0072	0	0.0033	0.0005	0.0029	0.505	0.07619	T	0.638	0.07015	T	0.015	0.17086	B	0.038	0.23361	B	0.001491	0.38855	N	0.286477	0.707963	0.33489	D	0.835	0.21042	L	1.95	0.22474	T	-0.14	0.09135	N	0.206	0.22870	-1.0746	0.08431	T	0.021	0.08963	T	10	0.0071903467	0.00163	T	0.010104	0.26235	T	0.038	0.09825	.	.	0.295974979623	0.29207	0.07154582588515458	0.07091	0.0194106171819	0.01902	0.474713921547	0.35330	T	0.014587	0.12389	T	-0.593585	0.00159	T	-0.623916	0.10881	T	0.0183644398619737	0.00554	T	0.882012	0.60217	D	0.043668225	0.06845	0.060276493	0.11451	0.043668225	0.06844	0.060276493	0.11451	-2.072	0.03465	T	.	.	0.079	0.07224	B	.	.	2.565120	0.33231	19.28	0.62027503712882337	0.06858	0.89318	0.49710	D	AEFBI	0.112175	0.22182	N	-0.218766830305538	0.32363	1.824406	-0.04284875353015	0.37801	2.218261	0.999939446269303	0.46732	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.46	3.27	0.36580	2.325000	0.43499	3.865000	0.40157	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4436:0.0:0.5564:0.0	4.431	0.10952	513	0.74941	CCAAT-binding factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1622.33	37	chr2	37223207	.	G	A	1622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.351;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.405;SOR=0.659	GT:AD:DP:GQ:PL	0/1:47,60:107:99:1636,0,1205	18	0	1	0
chr2	40429705	40429705	G	T	exonic	SLC8A1	.	nonsynonymous SNV	SLC8A1:NM_001112800:exon1:c.C576A:p.D192E,SLC8A1:NM_001252624:exon1:c.C576A:p.D192E,SLC8A1:NM_001112801:exon2:c.C576A:p.D192E,SLC8A1:NM_001112802:exon2:c.C576A:p.D192E,SLC8A1:NM_001351483:exon2:c.C576A:p.D192E,SLC8A1:NM_001351484:exon2:c.C576A:p.D192E,SLC8A1:NM_001351485:exon2:c.C576A:p.D192E,SLC8A1:NM_001351486:exon2:c.C576A:p.D192E,SLC8A1:NM_001351487:exon2:c.C576A:p.D192E,SLC8A1:NM_001351488:exon2:c.C576A:p.D192E,SLC8A1:NM_001351489:exon2:c.C576A:p.D192E,SLC8A1:NM_001351490:exon2:c.C576A:p.D192E,SLC8A1:NM_001351491:exon2:c.C576A:p.D192E,SLC8A1:NM_001351492:exon2:c.C576A:p.D192E,SLC8A1:NM_001351493:exon2:c.C576A:p.D192E,SLC8A1:NM_001351494:exon2:c.C576A:p.D192E,SLC8A1:NM_001372263:exon2:c.C576A:p.D192E,SLC8A1:NM_021097:exon2:c.C576A:p.D192E	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0187650653858	.	.	2.48e-05	0	0	0	0	0	0.0033	0	1.94e-05	3	154602	rs755112990	2.326e-05	2.394e-05	1.906e-05	2.751e-05	0.0012	1.675e-05	1.478e-05	0.0006	0.0004	0	0	0	0	0	0.0012	1.349e-05	6.624e-05	9.275e-05	6.575e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.212	0.19710	T	0.39	0.16231	T	0.998	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.21	0.30464	L	-0.01	0.62762	T	-1.19	0.34397	N	0.39	0.43223	-0.8018	0.55038	T	0.230	0.59534	T	10	0.37172884	0.53527	T	0.018765	0.40941	T	0.346	0.66769	0.67	0.80803	0.866202921342	0.86490	0.4890325140458355	0.48823	0.342380788811	0.36179	0.848488390446	0.89386	D	0.377489	0.74066	T	-0.152384	0.27938	T	-0.219997	0.52737	T	0.306252896785736	0.25260	T	0.845515	0.52873	T	0.092284575	0.21646	0.11436145	0.27605	0.092284575	0.21645	0.11436145	0.27604	-4.196	0.28610	T	.	.	0.098	0.20972	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-1.401903	0.00359	0.006	0.86693522749917662	0.16709	0.18814	0.20413	N	AEFGBI	0.413196	0.48297	N	-0.838173219575619	0.12343	0.6010494	-0.869131757947399	0.12828	0.6621661	0.999917962859243	0.45857	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.59	-1.28	0.08834	-0.830000	0.04517	0.074000	0.14299	-3.559000	0.00076	0.003000	0.16062	0.000000	0.08366	0.079000	0.17189	0.5729:0.0:0.4271:0.0	10.057	0.41421	778	0.48011	.;Sodium/calcium exchanger membrane region;.;.;.;.;Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2028.33	36	chr2	40429705	.	G	T	2028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=824;ExcessHet=0;FS=4.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=1.14;SOR=0.601	GT:AD:DP:GQ:PL	0/1:61,69:130:99:2042,0,1485	18	0	1	0
chr2	53716666	53716666	C	T	exonic	ASB3;GPR75-ASB3	.	nonsynonymous SNV	ASB3:NM_001201965:exon5:c.G463A:p.V155M,ASB3:NM_145863:exon5:c.G463A:p.V155M,GPR75-ASB3:NM_001164165:exon6:c.G796A:p.V266M,ASB3:NM_016115:exon6:c.G682A:p.V228M	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.0952391688918	0.0035	.	0.0022	0.0002	0.0004	0	0.0002	0.0039	0.0011	6.057e-05	0.0023415	362	154602	rs140678678	0.0035	0.0035	0.0034	0.0035	0.0040	0.0034	0.0033	0.0039	0.0039	0.0006	0.0005	0.0095	0	0.0008	0.0007	0.0040	0.0034	0.0001	0.0025	0.0025	0.0026	0.0023	0.0041	0.0023	0.0022	0.0037	0.0036	0.0007	0.0066	0.0009	0.0112	0	0.0006	0	0.0041	0.0014	0	0.001	0.78490	D	0.005	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	.	.	.	1.73	0.44655	L	-0.37	0.68892	T	-2.5	0.54702	D	0.682	0.68863	0.022	0.82686	D	0.440	0.77871	T	9	0.023719639	0.00629	T	0.095239	0.76394	D	0.527	0.80007	.	.	0.837760505905	0.83621	0.6577762979730166	0.65714	0.348436115935	0.36714	0.609840989113	0.54293	T	0.097617	0.40061	T	-0.146198	0.28908	T	0.0181729	0.71512	D	0.0534397973199831	0.06095	T	0.960604	0.85735	D	0.5768021	0.71433	0.5413359	0.73491	0.5768021	0.71434	0.5413359	0.73492	-9.666	0.71888	D	.	.	0.237	0.47094	B	.;.;.;.	.;.;.;.	4.883983	0.80130	27.3	0.99875033916598732	0.95244	0.95967	0.66935	D	AEFBI	0.562492	0.57006	D	0.774886778807782	0.84511	8.308699	0.731920936141584	0.84800	8.394762	0.983894998131199	0.30631	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	4.396000	0.59445	5.921000	0.51166	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.231	0.93826	923	0.18507	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	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	0.002591	0.000000	0.000000	0.000000	0.050000	0.008621	0.003049	0.000000	0.05263	4110.81	33	chr2	53716666	.	C	T	4110.81	.	AC=2;AF=0.053;AN=38;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.23;SOR=0.753	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4138,408,0	18	1	0	0
chr2	73701287	73701287	G	A	exonic	NAT8B	.	unknown	UNKNOWN	.	422	1082	17	1	0	19	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.00499201	0.0042	0.0010	0.0030	0.0067	0.0006	0.0048	0	0.0051	0.0042302	654	154602	rs116094901	0.0057	0.0057	0.0058	0.0056	0.0104	0.0056	0.0055	0.0096	0.0092	0.0010	0.0024	0.0071	0.0104	0.0003	0.0085	0.0061	0.0067	0.0036	0.0038	0.0038	0.0042	0.0034	0.0095	0.0035	0.0034	0.0074	0.0066	0.0012	0	0.0026	0.0086	0.0095	9.411e-05	0.0034	0.0056	0.0062	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.008621	0.012195	0.007576	0.07895	6212.77	159	chr2	73701287	.	G	A	6212.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.79;DP=984;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=0.817;SOR=0.722	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4608,411,0	17	1	1	0
chr2	74214154	74214154	A	G	exonic	MTHFD2	.	nonsynonymous SNV	MTHFD2:NM_006636:exon8:c.A965G:p.K322R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0238913277298	.	.	8.281e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs772259335	2.189e-05	2.189e-05	1.089e-05	3.3e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0001	0	0	0	0	0	0.0003	3.597e-06	6.624e-05	0.0003	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	0.084	0.32929	T	0.102	0.38450	T	0.151	0.33382	B	0.232	0.42645	B	0.000000	0.84330	D	0.043429	1	0.81001	D	0.785	0.19527	N	0.39	0.57419	T	-1.64	0.42575	N	0.348	0.39659	-0.8857	0.49299	T	0.158	0.49060	T	10	0.3629901	0.52880	T	0.023891	0.46868	T	0.173	0.43840	0.485	0.56780	0.645281600169	0.64234	0.5307383535676192	0.52997	0.534655600941	0.50860	0.694038927555	0.66285	T	0.355804	0.72275	T	-0.113256	0.34232	T	-0.104268	0.63065	T	0.271120045682065	0.23795	T	0.968703	0.88660	D	0.34632167	0.56779	0.3968095	0.64312	0.34632167	0.56779	0.3968095	0.64312	-8.711	0.65818	D	.	.	0.097	0.29116	B	.;.;.	.;.;.	3.965832	0.58200	23.9	0.99870926346260358	0.94815	0.96025	0.67194	D	AEFGBCI	0.870586	0.79162	D	0.204260510322793	0.51404	3.322033	0.364433585355289	0.59383	4.115543	0.999992073027151	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.141000	0.76920	8.150000	0.76709	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.016	0.64040	715	0.56137	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain;Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1911.81	35	chr2	74214154	.	A	G	1911.81	.	AC=2;AF=0.053;AN=38;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.86;SOR=0.76	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1939,180,0	18	1	0	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,24:236:99:0|1:94876587_C_A:370,0,8722:94876587	7	0	12	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,54:315:99:0|1:94876587_C_A:1482,0,10797:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,80:360:99:0|1:94876587_C_A:2483,0,11488:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:336,94:430:99:0|1:94876671_A_G:2925,0,13659:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,94:431:99:0|1:94876671_A_G:2922,0,13706:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:331,67:398:99:.:.:1236,0,8378:.	3	0	16	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	5398.38	564	chr2	94876737	.	C	A	5398.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.203;DP=3835;ExcessHet=2.9153;FS=1.937;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.27;MQRankSum=-14.34;QD=1.77;ReadPosRankSum=-2.14;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:364,36:400:99:.:.:396,0,15025:.	12	0	7	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5526.38	560	chr2	94876740	.	A	C	5526.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.091;DP=3824;ExcessHet=2.9153;FS=1.93;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.4;MQRankSum=-14.25;QD=1.84;ReadPosRankSum=-2.05;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:353,36:391:99:.:.:420,0,14713:.	12	0	7	0
chr2	95594429	95594429	C	G	exonic	TRIM43	.	nonsynonymous SNV	TRIM43:NM_138800:exon2:c.C406G:p.H136D	.	456	1063	3	0	0	3	0.00140911	.	.	.	3337004	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00392952966489	.	.	0.0002	0.0005	0	0	0.0002	6.076e-05	0	0.0007	0.0023821	62	26028	rs2464729	0.0007	0.0010	0.0005	0.0009	0.0069	0.0007	0.0006	0.0064	0.0063	0.0020	0.0003	0	0.0007	1.877e-05	0	0.0002	0.0009	0.0069	0.0014	0.0015	0.0015	0.0013	0.0069	0.0012	0.0012	0.0051	0.0044	0.0028	0	0.0009	0	0.0010	0	0	0.0006	0.0014	0.0069	0.274	0.15823	T	0.409	0.14588	T	0.356	0.33761	B	0.172	0.35394	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.41	0.57100	T	-3.44	0.67477	D	0.234	0.26354	-1.0055	0.28307	T	0.098	0.36574	T	9	0.016666204	0.00352	T	0.00393	0.09274	T	0.045	0.12272	.	.	0.570510961217	0.56716	0.18942858001382776	0.18860	0.145945834864	0.16482	0.440152704716	0.30597	T	0.105811	0.41660	T	-0.521718	0.00430	T	-0.535418	0.18750	T	0.0270707010481778	0.01555	T	0.00715928	0.00032	T	0.07744654	0.17579	0.09199854	0.21658	0.07744654	0.17578	0.09199854	0.21657	-8.328	0.63284	D	.	.	0.211	0.43855	B	.	.	0.148078	0.05405	1.884	0.704874107900341	0.09312	0.00687	0.02939	N	AEFI	0.031528	0.03391	N	-1.01483339283439	0.08295	0.38845	-1.20985890650865	0.05750	0.2748825	4.18142645057232E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.22	-2.44	0.06126	0.306000	0.19030	-2.290000	0.03944	-0.486000	0.05055	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.238:0.2478:0.0:0.5142	2.178	0.03631	470	0.78111	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1731.33	35	chr2	95594429	.	C	G	1731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.245;DP=810;ExcessHet=0;FS=4.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.58;MQRankSum=-4.71;QD=10.07;ReadPosRankSum=1.62;SOR=1.065	GT:AD:DP:GQ:PL	0/1:99,73:174:99:1745,0,2684	18	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:185,55:240:99:1282,0,5299	0	0	19	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:239,26:265:92:92,0,7305	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:205,149:354:99:3293,0,5967	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:207,100:307:99:2571,0,6063	0	0	19	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:220,83:303:99:1836,0,6434	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:91,22:113:99:584,0,3729	6	0	13	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,57:169:99:0|1:95859969_A_AT:2056,0,4497:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,57:169:99:0|1:95859969_A_AT:2056,0,4497:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,56:167:99:0|1:95859969_A_AT:2017,0,4472:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:116,55:171:99:1917,0,2941	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,51:161:99:0|1:95860002_T_A:1805,0,4417:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,49:158:99:0|1:95860002_T_A:1724,0,4386:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,38:140:99:0|1:95860020_G_A:1283,0,4159:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,38:139:99:0|1:95860020_G_A:1287,0,4127:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:87,23:110:99:692,0,2289	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,32:177:99:0|1:95927222_G_GAT:907,0,5992:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,46:208:99:0|1:95927222_G_GAT:1444,0,6664:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,64:234:99:0|1:95927222_G_GAT:2176,0,6946:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,112:304:99:0|1:95927222_G_GAT:4125,0,7725:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,154:373:99:0|1:95927222_G_GAT:5706,0,8683:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,158:383:99:0|1:95927222_G_GAT:5775,0,8788:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,60:191:99:0|1:95929092_T_C:2007,0,5293:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,70:222:99:0|1:95929092_T_C:2482,0,6168:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,97:268:99:0|1:95929092_T_C:3558,0,6888:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,110:286:99:0|1:95929092_T_C:4089,0,7059:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,116:295:99:0|1:95929092_T_C:4301,0,7104:95929092	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,31:142:99:0|1:97185336_GC_G:968,0,4568:97185336	2	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,31:146:99:0|1:97185336_GC_G:956,0,4736:97185336	2	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,31:150:99:0|1:97185336_GC_G:943,0,4903:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,31:159:99:0|1:97185336_GC_G:916,0,5281:97185336	2	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,14:178:94:0|1:97243981_C_T:94,0,6824:97243981	8	0	11	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,15:176:99:0|1:97243981_C_T:125,0,6715:97243981	7	0	12	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,107:237:99:0|1:97513219_T_C:4102,0,5137:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,111:246:99:0|1:97513219_T_C:4193,0,5329:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,129:270:99:0|1:97513244_G_T:4992,0,5451:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,137:281:99:0|1:97513244_G_T:5299,0,5604:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,137:280:99:0|1:97513244_G_T:5302,0,5583:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,141:290:99:0|1:97513268_C_T:5472,0,5793:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,144:294:99:0|1:97513268_C_T:5539,0,5824:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,144:295:99:0|1:97513268_C_T:5536,0,5846:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,145:294:99:0|1:97513268_C_T:5464,0,5712:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:104,78:182:99:1615,0,2616	0	0	19	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP 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	.	.	.	.	.	.	.	.	0.05263	144.83	36	chr2	106413119	.	A	G	144.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=682;ExcessHet=0.119;FS=27.969;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.82;MQRankSum=-3.338;QD=1.77;ReadPosRankSum=-0.833;SOR=4.777	GT:AD:DP:GQ:PL	0/1:45,8:53:94:94,0,1193	17	0	2	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,79:198:99:.:.:2954,0,4742:.	6	3	9	1
chr2	108736169	108736169	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon6:c.C702G:p.D234E	.	136	1384	2	0	0	2	0.000722022	.	.	.	628374	Familial_acute_necrotizing_encephalopathy|not_specified	MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.00519116099118	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0003	0	0.0008	0.0001921	5	26028	rs148149640	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0007	0.0006	0	0.0002	0	0	0	0.0012	0.0001	0.0002	0.0008	9.848e-05	9.842e-05	7.709e-05	0.0001	0.0004	6.002e-05	4.876e-05	7.909e-05	5.994e-05	2.406e-05	0	6.539e-05	0	0	0	0	0.0001	0.0005	0.0004	0.541	0.06779	T	0.238	0.24549	T	0.372	0.34134	B	0.1	0.30674	B	.	.	.	.	0.999816	0.23950	N	1.51	0.38214	L	1.59	0.28836	T	-1.29	0.32387	N	0.63	0.64393	-1.0754	0.08266	T	0.040	0.17020	T	9	0.1357204	0.25825	T	0.005191	0.13218	T	0.153	0.40148	0.255	0.19533	0.764377725622	0.76223	0.1301059518603745	0.12935	0.38567493287	0.39859	0.497942984104	0.38541	T	0.316088	0.68766	T	-0.348958	0.04793	T	-0.374868	0.36320	T	0.0417778986407469	0.04015	T	0.787921	0.42712	T	0.056723427	0.11197	0.06697641	0.13795	0.056723427	0.11197	0.06697641	0.13795	-3.01	0.10289	T	.	.	0.170	0.37445	B	.	.	2.189849	0.27918	17.62	0.99690153194828157	0.79842	0.74298	0.36345	D	AEFBI	0.149746	0.27390	N	-0.0778671945104186	0.38364	2.24584	0.0757442179049967	0.43332	2.63717	0.00169438114149657	0.08790	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.13	4.23	0.49319	1.000000	0.29371	0.404000	0.18035	0.585000	0.30472	1.000000	0.71638	0.993000	0.31925	0.952000	0.50033	0.2338:0.5918:0.0:0.1744	3.570	0.07463	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2890.33	115	chr2	108736169	.	C	G	2890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.045;DP=1101;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.2;MQRankSum=-1.757;QD=13.7;ReadPosRankSum=0.914;SOR=0.621	GT:AD:DP:GQ:PL	0/1:94,117:211:99:2904,0,2324	18	0	1	0
chr2	112021489	112021489	T	C	exonic	MERTK	.	nonsynonymous SNV	MERTK:NM_006343:exon17:c.T2257C:p.Y753H	Retinitis pigmentosa 38, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	0.0661501963694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.008831	0.30645	U	0.000000	1	0.81001	D	2	0.54354	M	-1.72	0.83241	D	-4.82	0.80943	D	0.857	0.95608	0.488	0.90376	D	0.685	0.89136	D	10	0.8540115	0.84590	D	0.06615	0.69791	D	0.838	0.94914	0.719	0.85408	0.937624962539	0.93697	0.8033696096349648	0.80290	0.686564950529	0.60336	0.883773088455	0.94464	D	0.663116	0.89915	D	0.303075	0.83213	D	0.19757	0.82994	D	0.998410701751709	0.94084	D	0.972803	0.96889	D	0.88403445	0.90002	0.8854505	0.93945	0.88403445	0.90003	0.8854505	0.93945	-12.743	0.88276	D	0.7431990869793649	0.82528	0.952	0.93631	P	.;.;.;.;.	.;.;.;.;.	5.377920	0.90137	31	0.99842536766616752	0.92316	0.88975	0.49171	D	AEBCI	0.909481	0.86618	D	0.725798806598713	0.81323	7.495422	0.690628536829012	0.81665	7.580557	0.999999999982447	0.74766	0.722319	0.85440	0	0.588015	0.36545	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	8.017000	0.88732	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.300	0.73644	904	0.23766	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;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr2	112021489	.	T	C	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.907;DP=690;ExcessHet=0;FS=8.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.518;SOR=0.926	GT:AD:DP:GQ:PL	0/1:37,32:69:99:882,0,1091	18	0	1	0
chr2	112738876	112738876	G	A	exonic	CKAP2L	.	nonsynonymous SNV	CKAP2L:NM_001304361:exon9:c.C1690T:p.R564C,CKAP2L:NM_152515:exon9:c.C2185T:p.R729C	Filippi syndrome, Autosomal recessive	439	1042	40	1	0	42	0.0197554	.	.	.	696976	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	.	0.0082	0.00479233	0.0097	0.0021	0.0058	0	0.0057	0.0112	0.0077	0.0182	0.0093142	1440	154602	rs76036957	0.0098	0.0098	0.0093	0.0102	0.0181	0.0096	0.0096	0.0174	0.0171	0.0013	0.0068	0.0059	2.519e-05	0.0057	0.0099	0.0102	0.0086	0.0181	0.0078	0.0078	0.0079	0.0077	0.0141	0.0074	0.0073	0.0114	0.0104	0.0021	0.0493	0.0090	0.0095	0.0002	0.0038	0.0102	0.0112	0.0071	0.0141	0.0	0.91255	D	0.031	0.53788	D	0.966	0.56202	D	0.378	0.43788	B	0.001663	0.38326	N	0.247068	0.999705	0.81001	D	2.445	0.70938	M	1.34	0.34841	T	-4.35	0.76900	D	0.235	0.26475	-0.9756	0.35993	T	0.075	0.30086	T	10	0.006101191	0.00137	T	.	.	.	0.199	0.48268	.	.	0.220303561663	0.21668	0.6024839971628364	0.60179	0.33601122807	0.35606	0.41950160265	0.27768	T	0.055558	0.30039	T	-0.387086	0.02809	T	-0.314518	0.43171	T	0.0509182101076658	0.05661	T	0.851715	0.53598	D	0.38217694	0.59474	0.25210404	0.50833	0.3203046	0.54665	0.25210404	0.50832	-7.852	0.60057	D	0.6133946603070386	0.68116	0.191	0.40921	B	.	.	3.119182	0.42106	21.5	0.99421121823061132	0.63790	0.77125	0.37887	D	AEFBI	0.258980	0.37742	N	0.328897022263505	0.57636	3.931799	0.364932610761628	0.59413	4.119	0.992322588929736	0.32799	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.45	4.57	0.55860	2.049000	0.40912	4.964000	0.46359	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.1531:0.7642:0.0	8.592	0.32856	614	0.66605	Cytoskeleton-associated protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.005051	0.010870	0.002924	0.000000	0.000000	0.015244	0.015152	0.02632	1446.33	34	chr2	112738876	.	G	A	1446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=737;ExcessHet=0;FS=1.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.063;SOR=0.888	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1460,0,895	18	0	1	0
chr2	119452057	119452057	C	T	exonic	SCTR	.	nonsynonymous SNV	SCTR:NM_002980:exon9:c.G874A:p.A292T	.	431	1070	20	1	0	22	0.0101758	.	.	.	719210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.00774449728477	0.0038	0.00119808	0.0048	0.0007	0.0064	0	0.0011	0.0065	0.0059	0.0032	0.0038874	601	154602	rs140893531	0.0041	0.0041	0.0040	0.0041	0.0262	0.0040	0.0040	0.0228	0.0215	0.0010	0.0032	0.0072	0	0.0005	0.0262	0.0043	0.0048	0.0034	0.0038	0.0038	0.0042	0.0033	0.0052	0.0035	0.0034	0.0047	0.0046	0.0008	0.0680	0.0045	0.0058	0	0.0004	0.0306	0.0052	0.0057	0.0029	0.839	0.02818	T	0.547	0.09522	T	0.001	0.07471	B	0.009	0.14300	B	0.134378	0.18519	N	0.487155	1	0.08975	N	0.04	0.08086	N	1.16	0.38073	T	0.55	0.02721	N	0.307	0.34659	-1.0075	0.27696	T	0.029	0.12585	T	10	0.0034151971	0.00060	T	0.007744	0.20536	T	0.038	0.09825	.	.	0.316788114976	0.31282	0.174988369672844	0.17417	0.092802932358	0.10482	0.265227228403	0.05529	T	0.065123	0.32609	T	-0.638099	0.00085	T	-0.687857	0.06513	T	0.000873557410316044	0.00008	T	0.179182	0.01770	T	0.023302292	0.01059	0.03663332	0.03149	0.023302292	0.01059	0.03663332	0.03148	-4.812	0.34731	T	.	.	0.063	0.01491	B	.	.	0.555117	0.09238	6.019	0.6138686733643739	0.06696	0.12907	0.17550	N	AEFBCI	0.130667	0.24931	N	-1.276428183442	0.03961	0.1779107	-1.20324611166479	0.05858	0.2802926	0.0325168889516921	0.14058	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	1.42	0.21524	-0.029000	0.12278	-1.436000	0.05444	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.0:0.6734:0.1212:0.2054	8.701	0.33484	939	0.14249	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019637	0.000000	0.017663	0.040936	0.050000	0.034483	0.024390	0.000000	0.02632	1028.33	33	chr2	119452057	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.27;SOR=0.749	GT:AD:DP:GQ:PL	0/1:39,38:77:99:1042,0,860	18	0	1	0
chr2	120984646	120984646	C	T	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon11:c.C1433T:p.T478M,GLI2:NM_001371271:exon12:c.C1859T:p.T620M,GLI2:NM_001374353:exon12:c.C1808T:p.T603M,GLI2:NM_005270:exon12:c.C1859T:p.T620M	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	0	1484	37	1	0	39	0.0129697	.	.	.	223606	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|not_specified|not_provided|Anophthalmia-microphthalmia_syndrome|Bardet-Biedl_syndrome	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MedGen:CN169374|MedGen:C3661900|MedGen:C5680330,Orphanet:98555|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.0008	0.00219649	0.0026	0.0004	0.0003	0.0001	0	0.0019	0.0045	0.0107	0.0023738	367	154602	rs142775128	0.0021	0.0021	0.0018	0.0024	0.0104	0.0020	0.0020	0.0098	0.0096	0.0001	0.0005	0.0037	5.038e-05	0.0002	0.0055	0.0016	0.0026	0.0104	0.0013	0.0013	0.0012	0.0014	0.0089	0.0011	0.0011	0.0068	0.0060	0.0004	0	0.0006	0.0035	0.0004	9.411e-05	0.0068	0.0016	0.0014	0.0089	0.122	0.27663	T	0.037	0.51737	D	0.832	0.46138	P	0.226	0.38054	B	0.515791	0.11796	N	0.806041	1	0.08975	N	0.69	0.16971	N	2.47	0.14783	T	-1.5	0.36586	N	0.185	0.20129	-1.0557	0.12855	T	0.031	0.13504	T	10	0.00654158	0.00148	T	.	.	.	0.062	0.17934	.	.	0.339440827056	0.33553	0.23877867945309053	0.23791	0.465526152677	0.45986	0.310651242733	0.12005	T	0.441684	0.78613	T	-0.588781	0.00170	T	-0.609125	0.12055	T	0.00664244789238777	0.00074	T	0.612939	0.23352	T	0.03308176	0.03456	0.04148887	0.04728	0.036132056	0.04387	0.037408102	0.03388	-4.641	0.32683	T	.	.	0.082	0.08948	B	.;.	.;.	1.907197	0.24225	16.32	0.92458925033073125	0.21885	0.20783	0.21167	N	AEFDBI	0.278556	0.39281	N	-0.546217494471762	0.20602	1.087282	-0.623952830292463	0.18879	1.010464	0.999553440065076	0.40362	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.9	3.08	0.34576	2.217000	0.42521	.	.	0.599000	0.40250	0.005000	0.17040	0.138000	0.23065	0.000000	0.00833	0.0:0.7701:0.1528:0.0771	9.809	0.39978	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	2297.33	34	chr2	120984646	.	C	T	2297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=769;ExcessHet=0;FS=3.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=-1.172;SOR=0.825	GT:AD:DP:GQ:PL	0/1:53,80:133:99:2311,0,1259	18	0	1	0
chr2	127584147	127584147	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon13:c.G1369A:p.A457T	.	69	1438	11	4	0	19	0.00656304	.	.	.	3202601	MYO7B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.496	0.0317086460166	0.0018	0.00159744	0.0022	0.0001	0.0013	0	0	0.0031	0.0061	0.0022	0.0018887	292	154602	rs144080203	0.0017	0.0017	0.0017	0.0017	0.0031	0.0017	0.0016	0.0020	0.0017	0.0004	0.0018	0.0218	2.52e-05	1.873e-05	0.0031	0.0013	0.0029	0.0021	0.0017	0.0017	0.0018	0.0016	0.0027	0.0015	0.0015	0.0020	0.0017	0.0005	0	0.0026	0.0176	0	0	0.0034	0.0017	0.0028	0.0027	0.001	0.78490	D	0.032	0.53426	D	1.0	0.90584	D	0.94	0.67560	D	0.000004	0.62929	D	0.061331	0.999991	0.58761	D	1.61	0.41143	L	-0.68	0.72568	T	-3.55	0.68764	D	0.522	0.55799	-0.5336	0.67405	T	0.290	0.66192	T	10	0.02222094	0.00549	T	0.031709	0.53723	D	0.496	0.78100	.	.	0.59231078066	0.58908	0.6648139025092835	0.66418	0.442165834421	0.44191	0.640366315842	0.58616	T	0.289652	0.66244	T	-0.267179	0.12074	T	-0.163036	0.58077	T	0.0428284704889194	0.04207	T	0.968903	0.88767	D	0.6082532	0.73134	0.7391139	0.84579	0.6082532	0.73135	0.7391139	0.84580	-5.852	0.45025	T	.	.	0.203	0.44527	B	.;.	.;.	4.486115	0.70031	25.5	0.999317423056444	0.99387	0.96279	0.68366	D	AEFDBI	0.780081	0.71209	D	0.403351340995426	0.61608	4.364042	0.348958207713784	0.58444	4.014998	0.997130512780973	0.35307	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.7	2.9	0.32809	6.792000	0.74912	11.684000	0.94262	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.1508:0.0:0.8492:0.0	11.101	0.47397	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII 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	0	0	1	0	0.004532	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1759.33	34	chr2	127584147	.	G	A	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=769;ExcessHet=0;FS=3.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.362;SOR=0.418	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1773,0,1322	18	0	1	0
chr2	130144962	130144962	G	A	exonic	CCDC74B	.	nonsynonymous SNV	CCDC74B:NM_001258307:exon1:c.C35T:p.P12L,CCDC74B:NM_207310:exon1:c.C35T:p.P12L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.216913308597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.104	0.74150	T	0.7	0.41856	P	0.133	0.34693	B	.	.	.	.	0.999064	0.29367	N	0.895	0.22405	L	1.46	0.53943	T	-3.07	0.77391	D	0.163	0.24260	-0.8830	0.49521	T	0.116	0.40964	T	9	0.3083871	0.48335	T	0.216913	0.87582	D	0.108	0.30607	0.174	0.08014	0.669371813672	0.66658	0.1865882490716326	0.18576	2.6155260816	0.98254	0.788058757782	0.80147	T	0.050106	0.28500	T	-0.05464	0.43740	T	-0.316263	0.42984	T	0.396848946809769	0.28823	T	0.867113	0.56785	D	0.08793049	0.20495	0.13174874	0.31630	0.08793049	0.20495	0.13174874	0.31629	-3.731	0.20268	T	.	.	0.142	0.47360	B	.;.;.;.;.;.	.;.;.;.;.;.	2.898908	0.38415	20.7	0.99594679839645406	0.73807	0.12662	0.17404	N	AEFDGBHCI	0.058882	0.11081	N	-0.380967934255648	0.26148	1.424819	-0.475734297876446	0.22824	1.24163	0.414971256197894	0.20244	0.660085	0.49399	0	0.662677	0.63036	0	0.673471	0.61138	0	0.444512	0.06955	0	.	.	2.22	2.22	0.27116	1.088000	0.30489	.	.	0.339000	0.19733	0.902000	0.31475	0.599000	0.25709	0.015000	0.10482	0.0:0.0:1.0:0.0	7.964	0.29248	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	745.33	44	chr2	130144962	.	G	A	745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=814;ExcessHet=0;FS=1.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.26;MQRankSum=1.18;QD=15.86;ReadPosRankSum=-0.596;SOR=1.398	GT:AD:DP:GQ:PL	0/1:24,23:47:99:759,0,783	18	0	1	0
chr2	130657714	130657714	C	T	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.C2954T:p.P985L	.	74	1431	17	0	0	17	0.00590483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	.	0.00319489	0.0132	0.0015	0.0078	0	0.0020	0.0050	0.0408	0.0317	0.0007684	20	26028	rs552095587	0.0015	0.0015	0.0011	0.0019	0.0128	0.0015	0.0015	0.0121	0.0119	0.0003	0.0007	0.0063	2.632e-05	6.057e-05	0.0082	0.0006	0.0020	0.0128	0.0011	0.0011	0.0011	0.0011	0.0126	0.0009	0.0009	0.0097	0.0087	0.0005	0	0.0007	0.0068	0	0	0.0037	0.0007	0.0006	0.0126	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.977524	0.39375	D	3.655	0.94224	H	2.73	0.11839	T	-8.19	0.96809	D	0.324	0.36464	-1.0053	0.28368	T	0.099	0.36882	T	7	0.012013733	0.00260	T	.	.	.	0.181	0.45247	.	.	0.462111473445	0.45839	0.02712786375202906	0.02662	.	.	.	.	.	0.598495	0.87097	D	-0.49592	0.00603	T	-0.472807	0.25214	T	0.0969079647454294	0.12013	T	0.974802	0.91047	D	0.36426046	0.58158	0.28347903	0.54341	0.36426046	0.58159	0.28347903	0.54340	-8.023	0.61227	D	.	.	0.379	0.58352	A	.	.	2.518707	0.32546	19.07	0.98912866454171977	0.48399	0.52235	0.29083	D	AEFI	.	.	.	-0.170624640995066	0.34360	1.960361	-0.423347139363444	0.24314	1.330746	0.00202939160945885	0.09096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	5.537000	0.66897	.	.	0.196000	0.17891	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:0.9999:0.0:1.0E-4	6.920	0.23561	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	628.83	21	chr2	130657714	.	C	T	628.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=428;ExcessHet=0.119;FS=2.373;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=35.37;MQRankSum=1.02;QD=13.38;ReadPosRankSum=-0.528;SOR=0.233	GT:AD:DP:GQ:PL	0/1:21,9:30:99:253,0,665	17	0	2	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase 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	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.02632	564.45	36	chr2	131480177	.	G	A	564.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.45;DP=2530;ExcessHet=0;FS=85.338;InbreedingCoeff=-0.0342;MLEAC=1;MLEAF=0.026;MQ=52.3;MQRankSum=-6.65;QD=2.34;ReadPosRankSum=-1.774;SOR=4.433	GT:AD:DP:GQ:PL	0/1:198,43:241:99:578,0,5240	18	0	1	0
chr2	132784935	132784935	A	G	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.T1876C:p.S626P	.	439	1073	10	0	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.012434163557	8.3e-05	0.000998403	0.0011	0.0001	0	0.0005	0	0.0004	0	0.0081	0.0009185	142	154602	rs201000665	0.0005	0.0005	0.0004	0.0007	0.0063	0.0005	0.0005	0.0058	0.0057	6.085e-05	0.0002	0	0.0005	0	0.0018	0.0002	0.0005	0.0063	0.0006	0.0006	0.0003	0.0009	0.0067	0.0005	0.0005	0.0048	0.0042	4.814e-05	0	0.0025	0	0.0002	0	0.0034	0.0003	0.0005	0.0067	0.011	0.55530	D	0.099	0.38891	T	0.42	0.35330	B	0.197	0.36707	B	0.254944	0.15432	U	0.466067	1	0.18198	N	2.155	0.60227	M	0.84	0.47477	T	-1.7	0.40468	N	0.186	0.20262	-1.0094	0.27105	T	0.095	0.35791	T	10	0.0037727058	0.00070	T	0.012434	0.30996	T	0.076	0.22200	.	.	0.082315109003	0.07666	0.076513547544345	0.07587	0.0490270278888	0.05361	0.30133664608	0.10600	T	0.005112	0.04549	T	-0.481841	0.00721	T	-0.462988	0.26274	T	0.0273570029385819	0.01594	T	0.50265	0.15781	T	0.20821725	0.43051	0.24029279	0.49400	0.20821725	0.43051	0.24029279	0.49399	-3.727	0.19717	T	.	.	0.078	0.07036	B	.;.	.;.	0.716596	0.10854	7.532	0.98996354087645733	0.50044	0.13105	0.17666	N	AEFBI	0.166332	0.29291	N	-0.618814560407376	0.18379	0.9537493	-0.674466003117495	0.17600	0.9365959	3.57138190330216E-4	0.06668	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.64	1.95	0.25130	1.188000	0.31711	.	.	0.751000	0.87719	0.131000	0.23362	0.007000	0.19602	0.113000	0.18872	0.7842:0.0:0.2158:0.0	8.598	0.32887	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	6366.83	37	chr2	132784935	.	A	G	6366.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.219;DP=2178;ExcessHet=0.119;FS=1.739;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.56;SOR=0.816	GT:AD:DP:GQ:PL	0/1:151,126:277:99:3126,0,3882	17	0	2	0
chr2	138005156	138005156	C	T	exonic	HNMT	.	nonsynonymous SNV	HNMT:NM_006895:exon5:c.C454T:p.P152S	Mental retardation, autosomal recessive 51, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2716333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.00378180175392	.	.	3.304e-05	0	0	0	0	1.501e-05	0	0.0002	2.59e-05	4	154602	rs762749102	2.841e-05	2.873e-05	1.934e-05	3.754e-05	0.0004	2.114e-05	1.902e-05	0.0003	0.0003	0	0	0	0	0	0	9.128e-07	5.023e-05	0.0004	6.574e-06	6.563e-06	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.149	0.24758	T	0.152	0.32249	T	0.042	0.21471	B	0.021	0.19346	B	0.012500	0.29156	N	0.415561	0.997495	0.43934	D	2.75	0.80375	M	2.06	0.20523	T	-1.13	0.29114	N	0.31	0.34981	-1.0958	0.04639	T	0.052	0.22269	T	10	0.14252985	0.27071	T	0.003782	0.08806	T	0.043	0.11576	0.307	0.27806	0.354183961838	0.35022	0.3965635980936812	0.39571	0.063845511626	0.07113	0.343398422003	0.16947	T	0.066149	0.32870	T	-0.360387	0.04108	T	-0.476012	0.24872	T	0.229765951633453	0.21940	T	0.783622	0.42065	T	0.30846122	0.53653	0.16163571	0.37587	0.30846122	0.53653	0.16163571	0.37586	-5.709	0.43773	T	0.3373060406797763	0.43520	0.120	0.24901	B	.;.	.;.	2.755570	0.36129	20.2	0.98956379981424136	0.49246	0.85564	0.44709	D	AEFBI	0.710131	0.66400	D	-0.161377155818123	0.34751	1.987451	-0.0123327498216134	0.39156	2.317457	0.998896298187855	0.37915	0.651	0.46895	0	0.573888	0.26702	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.48	4.57	0.55860	1.982000	0.40260	3.982000	0.40914	0.599000	0.40250	0.960000	0.33603	0.999000	0.35428	0.996000	0.76049	0.0:0.9188:0.0:0.0812	13.164	0.58981	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1561.33	36	chr2	138005156	.	C	T	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=746;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-1.481;SOR=0.764	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1575,0,1795	18	0	1	0
chr2	151569306	151569306	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon82:c.G12358A:p.V4120I,NEB:NM_001164507:exon110:c.G17497A:p.V5833I,NEB:NM_001164508:exon110:c.G17497A:p.V5833I,NEB:NM_001271208:exon110:c.G17497A:p.V5833I	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	246899	not_provided|not_specified|Nemaline_myopathy_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0103385765401	0.0016	0.00139776	0.0023	0.0006	0.0013	0.0001	0.0003	0.0021	0.0033	0.0065	0.0021733	336	154602	rs149881695	0.0029	0.0029	0.0028	0.0031	0.0059	0.0028	0.0028	0.0055	0.0053	0.0007	0.0013	0.0026	2.52e-05	0.0003	0.0043	0.0030	0.0038	0.0059	0.0020	0.0020	0.0022	0.0019	0.0056	0.0018	0.0018	0.0040	0.0034	0.0006	0	0.0035	0.0023	0.0002	0.0008	0	0.0027	0.0014	0.0056	0.064	0.36509	T	0.15	0.42614	T	0.539	0.37887	P	0.089	0.29769	B	0.000001	0.62929	D	0.056646	0.99658	0.43291	D	1.295	0.32453	L	3.2	0.08460	T	-0.51	0.18042	N	0.207	0.22998	-1.1350	0.01557	T	0.042	0.17952	T	10	0.0064363778	0.00146	T	0.010339	0.26763	T	0.105	0.29889	.	.	0.438593652726	0.43481	0.559535376864877	0.55880	0.0936402175111	0.10581	0.454801738262	0.32600	T	0.012825	0.46095	T	-0.487416	0.00671	T	-0.470859	0.25423	T	0.0124948242847624	0.00206	T	0.840916	0.55818	T	0.10451197	0.24706	0.0737715	0.16066	0.123301886	0.28955	0.09899753	0.23622	-3.052	0.10752	T	.	.	0.098	0.16187	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.639750	0.51603	23.1	0.99699367962171559	0.80522	0.88989	0.49193	D	AEFDGBHCI	0.343142	0.43906	N	0.272465036355448	0.54758	3.640623	0.355315102796979	0.58829	4.055963	0.999995088601413	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	6.08	6.08	0.98982	2.547000	0.45446	.	.	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.489000	0.28769	0.0:0.9297:0.0:0.0703	14.783	0.69408	903	0.23940	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.007576	0.02632	2483.33	43	chr2	151569306	.	C	T	2483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.009;SOR=0.681	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2497,0,1785	18	0	1	0
chr2	151627174	151627174	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon66:c.G9410A:p.R3137K,NEB:NM_001164507:exon70:c.G10175A:p.R3392K,NEB:NM_001164508:exon70:c.G10175A:p.R3392K,NEB:NM_001271208:exon70:c.G10175A:p.R3392K	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1319694	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.00352823173859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	0	5.501e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.937	0.14284	T	0.0	0.02946	B	0.001	0.04355	B	0.007913	0.31126	N	0.386726	0.99989	0.19853	N	-0.205	0.04094	N	1.91	0.23283	T	-0.13	0.17417	N	0.154	0.27673	-1.0400	0.17313	T	0.029	0.12322	T	10	0.08949089	0.15507	T	0.003528	0.08031	T	0.231	0.53208	0.517	0.61763	0.101711395817	0.09552	0.3847595080248362	0.38390	0.0537011207665	0.05932	0.212492972612	0.00922	T	0.013475	0.36102	T	-0.215686	0.18586	T	-0.547594	0.17557	T	0.308101862668991	0.25336	T	0.728927	0.34400	T	0.05885054	0.11889	0.06912546	0.14524	0.05885054	0.11888	0.06912546	0.14524	-2.554	0.34145	T	.	.	0.067	0.02370	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.438404	0.08085	4.812	0.73877803797597175	0.10488	0.03911	0.09294	N	AEFGBI	0.086413	0.17520	N	-1.08524654758605	0.06915	0.3196804	-0.948620839807185	0.10955	0.5551389	0.352621722054533	0.19698	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.39	0.491	0.16076	-2.028000	0.01519	.	.	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.0:0.6111:0.0:0.3889	10.962	0.46602	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2363.33	34	chr2	151627174	.	C	T	2363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.629;DP=830;ExcessHet=0;FS=1.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.321;SOR=0.842	GT:AD:DP:GQ:PL	0/1:105,91:196:99:2377,0,2929	18	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:139,54:200:6:6,0,2677	8	0	9	2
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	5487.41	34	chr2	162268086	.	C	T	5487.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.4;DP=842;ExcessHet=0.0101;FS=6.684;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=19.25;ReadPosRankSum=-0.309;SOR=1.099	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1363,0,1463	16	1	2	0
chr2	163610458	163610458	G	T	exonic	FIGN	.	nonsynonymous SNV	FIGN:NM_001321825:exon2:c.C1341A:p.D447E,FIGN:NM_018086:exon3:c.C1374A:p.D458E	.	420	1101	1	0	0	1	0.000453926	.	.	.	2676777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0240908991932	.	.	4.971e-05	0	8.643e-05	0	0	7.494e-05	0	0	5.82e-05	9	154602	rs769689570	6.909e-05	6.909e-05	7.895e-05	5.913e-05	0.0021	5.78e-05	5.391e-05	0.0012	0.0009	0	8.944e-05	0	0	0	0.0021	7.284e-05	6.623e-05	0	3.286e-05	3.284e-05	2.57e-05	4.036e-05	6.551e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.409e-05	0.0005	0	0.221	0.18889	T	0.956	0.02575	T	0.178	0.28960	B	0.093	0.30104	B	0.000000	0.84330	D	0.048522	1.000	0.81001	D	0.295	0.10161	N	-2.95	0.91903	D	-1.86	0.43524	N	0.056	0.02759	-0.1134	0.79789	T	0.552	0.83593	D	10	0.10394347	0.19136	T	0.024091	0.47073	T	0.265	0.57870	0.282	0.23801	0.352477664867	0.34857	0.32895444274641467	0.32808	0.199639565115	0.22366	0.604802966118	0.53583	T	0.195713	0.55187	T	-0.225453	0.17256	T	-0.364653	0.37512	T	0.0518693667693878	0.05825	T	0.70393	0.31399	T	0.1556906	0.35175	0.1777936	0.40404	0.1556906	0.35174	0.1777936	0.40403	-4.943	0.36215	T	.	.	0.083	0.09288	B	.	.	2.159127	0.27505	17.49	0.97631409110513767	0.35023	0.87036	0.46457	D	AEFDBI	0.224488	0.34871	N	-0.123814537321443	0.36356	2.100444	0.0678946873330586	0.42946	2.606648	0.97890639345375	0.29970	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.9	5.0	0.66209	2.845000	0.47954	7.585000	0.61076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0684:0.1293:0.8023:0.0	11.192	0.47919	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1490.33	36	chr2	163610458	.	G	T	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=840;ExcessHet=0;FS=2.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.309;SOR=0.663	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1504,0,1280	18	0	1	0
chr2	163610697	163610697	T	C	exonic	FIGN	.	nonsynonymous SNV	FIGN:NM_001321825:exon2:c.A1102G:p.T368A,FIGN:NM_018086:exon3:c.A1135G:p.T379A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.0302720960611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.852	0.03487	T	0.062	0.23277	B	0.016	0.17743	B	0.000384	0.44960	D	0.222920	0.999877	0.81001	D	-0.055	0.04927	N	-2.77	0.90904	D	2.17	0.00335	N	0.377	0.41853	-0.2397	0.76634	T	0.519	0.82024	D	10	0.09652713	0.17319	T	0.030272	0.52614	D	0.374	0.69273	0.227	0.15257	0.474801865133	0.47109	0.3774751127799524	0.37662	0.252522508138	0.27822	0.667145311832	0.62431	T	0.033032	0.22741	T	0.0644023	0.60163	T	-0.145267	0.59660	T	0.474365741014481	0.31691	T	0.608239	0.22965	T	0.13091761	0.30532	0.1337452	0.32064	0.13091761	0.30532	0.1337452	0.32063	-3.115	0.11469	T	.	.	0.064	0.01692	B	.	.	2.539308	0.32847	19.16	0.3814951937832472	0.02556	0.95814	0.66267	D	AEFBI	0.603568	0.59500	D	-0.187765767491492	0.33644	1.911018	0.0603120095238513	0.42571	2.577356	0.997834571837436	0.36087	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.04	6.04	0.98025	5.015000	0.63798	7.933000	0.75122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.588	0.84597	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3771.33	36	chr2	163610697	.	T	C	3771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1054;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.12;SOR=0.707	GT:AD:DP:GQ:PL	0/1:166,140:306:99:3785,0,4371	18	0	1	0
chr2	168970082	168970082	T	C	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon15:c.A1772G:p.N591S	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	1	1494	27	0	0	27	0.00895522	.	.	.	191668	not_specified|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.291	.	0.0005	0.0309505	0.0158	0.0018	0.0007	0.0015	0	0.0001	0.0111	0.1122	0.013732	2123	154602	rs11568367	0.0068	0.0068	0.0037	0.0100	0.1081	0.0067	0.0067	0.1063	0.1055	0.0016	0.0002	0	0.0010	1.873e-05	0.0040	0.0001	0.0068	0.1081	0.0042	0.0042	0.0023	0.0061	0.1153	0.0039	0.0038	0.1074	0.1042	0.0014	0	0.0002	0	0.0012	0	0	7.36e-05	0.0019	0.1153	0.135	0.26192	T	0.2	0.27591	T	0.98	0.59353	D	0.883	0.62698	P	0.000000	0.84330	D	0.044538	1	0.81001	D	-0.67	0.02046	N	-0.6	0.71662	T	-0.84	0.22944	N	0.695	0.70000	-0.4305	0.71051	T	0.228	0.59346	T	10	0.0026473403	0.00041	T	.	.	.	0.291	0.61040	.	.	.	.	0.524109046432155	0.52334	0.510600942341	0.49165	0.542424082756	0.44788	T	0.153035	0.49370	T	-0.461527	0.00962	T	-0.348875	0.39334	T	0.017062296466863	0.00453	T	0.963704	0.86510	D	0.17271739	0.37979	0.18334891	0.41319	0.15815155	0.35596	0.16906022	0.38911	-5.47	0.41587	T	0.3565312259165439	0.45334	0.100	0.37501	B	.;.;.	.;.;.	4.004459	0.59035	24.1	0.99869880373179787	0.94726	0.92628	0.56160	D	AEFDBHCI	0.769332	0.70462	D	0.279990503235525	0.55134	3.677821	0.380140974523956	0.60340	4.220599	0.999999999963722	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	6.269000	0.72536	4.241000	0.42707	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	15.033	0.71382	843	0.36859	ABC transporter-like|AAA+ ATPase domain;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	0	0	0	0	0	1	0	0.012588	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.037879	0.05263	4833.83	33	chr2	168970082	.	T	C	4833.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.168;DP=1066;ExcessHet=0.119;FS=1.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.5;SOR=0.559	GT:AD:DP:GQ:PL	0/1:123,103:226:99:2670,0,3247	17	0	2	0
chr2	172489630	172489630	A	G	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon20:c.A2651G:p.Q884R,ITGA6:NM_001079818:exon20:c.A2651G:p.Q884R,ITGA6:NM_001316306:exon20:c.A2294G:p.Q765R	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	283699	Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa,_junctional_6,_with_pyloric_atresia|ITGA6-related_disorder|not_provided	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.063	0.0116222495212	0.0006	0.000399361	0.0009	0.0002	0.0010	0	0	0.0010	0.0011	0.0012	0.0007891	122	154602	rs61757096	0.0006	0.0006	0.0006	0.0006	0.0035	0.0006	0.0005	0.0023	0.0019	0.0004	0.0009	0.0039	2.52e-05	0	0.0035	0.0005	0.0010	0.0010	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0014	0.0012	0.0001	0	0.0019	0.0029	0	9.411e-05	0.0102	0.0008	0.0014	0.0006	1.0	0.00964	T	0.546	0.09555	T	0.0	0.02946	B	0.002	0.06944	B	0.328170	0.04114	N	1.343860	1	0.08975	N	0.205	0.09354	N	0.8	0.48769	T	0.2	0.06612	N	0.054	0.05799	-1.0412	0.16951	T	0.076	0.30366	T	10	0.0053096414	0.00116	T	0.011622	0.29427	T	0.063	0.18251	.	.	0.350524144436	0.34660	0.49612528534616235	0.49533	0.431060661898	0.43325	0.221626952291	0.01406	T	0.049281	0.28261	T	-0.627636	0.00099	T	-0.724773	0.04568	T	0.00384265592605782	0.00041	T	0.723828	0.35200	T	0.019697199	0.00506	0.031792473	0.01818	0.019697199	0.00506	0.031792473	0.01818	-5.632	0.45579	T	.	.	0.071	0.04238	B	.;.;.;.;.	.;.;.;.;.	0.781819	0.11518	8.118	0.62217049621971721	0.06906	0.13839	0.18080	N	AEFBI	0.119270	0.23286	N	-1.08669563900196	0.06887	0.3183668	-1.06364687253851	0.08425	0.414185	0.731888225338986	0.23060	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	0.092	0.13781	0.146000	0.16000	0.147000	0.15245	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.600000	0.31387	0.3559:0.5067:0.1373:0.0	8.073	0.29863	764	0.49969	.;.;Integrin alpha-2;.;.	.	.	.	.	.	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	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	768.33	35	chr2	172489630	.	A	G	768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.105;DP=676;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.342;SOR=1.032	GT:AD:DP:GQ:PL	0/1:29,29:58:99:782,0,797	18	0	1	0
chr2	173955644	173955644	T	C	exonic	SP3	.	nonsynonymous SNV	SP3:NM_001017371:exon2:c.A664G:p.I222V,SP3:NM_001172712:exon4:c.A859G:p.I287V,SP3:NM_003111:exon4:c.A868G:p.I290V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00518866072814	.	0.000399361	5.769e-05	0	8.639e-05	0	0	8.996e-05	0	0	5.82e-05	9	154602	rs201150383	3.489e-05	3.489e-05	3.539e-05	3.438e-05	0.0002	2.697e-05	2.438e-05	4.358e-05	2.767e-05	0	0.0001	0	0	1.873e-05	0.0002	3.597e-05	6.623e-05	0	3.938e-05	3.937e-05	3.854e-05	4.026e-05	0.0002	1.714e-05	1.128e-05	5.278e-05	2.833e-05	0	0	0.0002	0	0	0	0	4.41e-05	0	0	0.638	0.05031	T	1.0	0.01155	T	0.146	0.27821	B	0.057	0.26280	B	0.000002	0.62929	D	0.102098	0.98338	0.40549	D	0.12	0.08593	N	3.6	0.04494	T	0.15	0.05310	N	0.093	0.07262	-0.8440	0.52379	T	0.006	0.01907	T	10	0.042162478	0.02940	T	0.005189	0.13218	T	0.092	0.26621	.	.	0.138757226776	0.13463	0.36653202909885685	0.36567	0.245544508446	0.27076	0.61973464489	0.55691	T	0.038968	0.25026	T	-0.433265	0.01417	T	-0.674228	0.07340	T	0.055578759396549	0.06454	T	0.857714	0.54741	D	0.030394685	0.02696	0.059755594	0.11269	0.030394685	0.02695	0.059755594	0.11269	-3.309	0.13853	T	.	.	0.238	0.47206	B	.;.;.	.;.;.	2.615074	0.33970	19.50	0.97045618919567855	0.32130	0.80281	0.39960	D	AEFGBCI	0.227873	0.35162	N	-0.298243301299277	0.29216	1.618246	-0.0364780536297816	0.38080	2.238562	0.999999904531121	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	2.874000	0.48181	6.147000	0.54138	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1437:0.8563	12.057	0.52840	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1423.33	34	chr2	173955644	.	T	C	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.434;DP=763;ExcessHet=0;FS=3.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.054;SOR=1.015	GT:AD:DP:GQ:PL	0/1:72,55:127:99:1437,0,2191	18	0	1	0
chr2	178503801	178503801	G	A	exonic	PLEKHA3	.	nonsynonymous SNV	PLEKHA3:NM_019091:exon8:c.G817A:p.A273T	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0008	0.00399361	0.0033	0.0002	0.0009	0.0001	0	0.0011	0.0011	0.0192	0.0027878	431	154602	rs145044786	0.0016	0.0016	0.0011	0.0022	0.0181	0.0016	0.0015	0.0173	0.0170	0.0002	0.0006	0.0015	0.0001	0	0.0033	0.0005	0.0025	0.0181	0.0015	0.0015	0.0013	0.0016	0.0222	0.0013	0.0012	0.0188	0.0175	0.0002	0	0.0016	0.0012	0	0	0	0.0011	0.0014	0.0222	0.26	0.16574	T	0.707	0.05582	T	0.0	0.02946	B	0.001	0.04355	B	0.042380	0.23849	N	0.464010	0.90154	0.27690	N	0.55	0.14455	N	2.63	0.12884	T	-0.24	0.10833	N	0.024	0.00445	-0.9654	0.38132	T	0.011	0.04321	T	10	0.0019107759	0.00026	T	.	.	.	0.115	0.32236	.	.	0.248417906384	0.24464	0.13601584638444106	0.13525	0.387255995529	0.40007	0.339420676231	0.16351	T	0.022339	0.17240	T	-0.678852	0.00049	T	-0.733621	0.04166	T	0.0108611034300655	0.00155	T	0.751525	0.37371	T	0.03181383	0.03091	0.047337435	0.06798	0.03181383	0.03090	0.047337435	0.06797	-3.032	0.10530	T	.	.	0.071	0.03773	B	.	.	1.641845	0.20951	14.98	0.7718937070749986	0.11773	0.85205	0.44317	D	AEFGBI	0.105423	0.21064	N	-0.612414703231113	0.18570	0.9651844	-0.408913275132726	0.24735	1.356198	0.892687780450018	0.25889	0.706548	0.73137	0	0.653731	0.59785	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.85	0.758	0.17579	1.173000	0.31529	.	.	0.676000	0.76740	1.000000	0.71638	0.996000	0.32793	0.999000	0.91618	0.2912:0.0:0.4495:0.2593	3.869	0.08533	322	0.86904	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004878	0.000000	0.002747	0.000000	0.000000	0.000000	0.007874	0.025424	0.02632	2289.33	35	chr2	178503801	.	G	A	2289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.4;DP=889;ExcessHet=0;FS=1.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.728;SOR=0.81	GT:AD:DP:GQ:PL	0/1:133,105:238:99:2303,0,3433	18	0	1	0
chr2	178534020	178534020	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.A75400G:p.I25134V,TTN:NM_133432:exon187:c.A75775G:p.I25259V,TTN:NM_133437:exon187:c.A75976G:p.I25326V,TTN:NM_133378:exon307:c.A94891G:p.I31631V,TTN:NM_001256850:exon308:c.A97672G:p.I32558V,TTN:NM_001267550:exon358:c.A102595G:p.I34199V	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	1496	25	0	0	25	0.00828638	.	.	.	56816	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0017	0.0011	0.0233	0.0036481	564	154602	rs56347248	0.0022	0.0022	0.0016	0.0028	0.0211	0.0021	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.038e-05	7.493e-05	0.0043	0.0010	0.0027	0.0211	0.0017	0.0018	0.0015	0.0020	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0016	0.0009	0	0	0	0.0016	0.0014	0.0238	0.52	0.07259	T	.	.	.	0.437	0.35811	B	0.235	0.38432	B	.	.	.	.	0.976515	0.39283	D	-0.115	0.04602	N	-0.06	0.63568	T	-0.59	0.17834	N	0.044	0.20793	-0.7920	0.55612	T	0.135	0.44933	T	9	0.003139168	0.00052	T	.	.	.	0.126	0.34673	.	.	0.494906320408	0.49125	.	.	0.126400502665	0.14248	0.424147129059	0.28407	T	.	.	.	-0.430651	0.01469	T	-0.374457	0.36368	T	0.0279211896563883	0.01677	T	0.818018	0.47860	T	.	.	.	.	.	.	.	.	-3.49	0.16292	T	.	.	0.131	0.28174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.161078	0.27534	17.49	0.8587454016514926	0.16167	0.93700	0.58941	D	AEFBI	.	.	.	0.0801936018471561	0.45539	2.808774	0.257360012518291	0.53068	3.477797	0.999984022272872	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.59	5.59	0.84677	5.019000	0.63828	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1352:0.0:0.0:0.8648	11.421	0.49223	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2751.33	33	chr2	178534020	.	T	C	2751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.903;DP=1975;ExcessHet=0;FS=2.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.068;SOR=0.861	GT:AD:DP:GQ:PL	0/1:132,117:249:99:2765,0,3569	18	0	1	0
chr2	178534724	178534724	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G74696A:p.R24899H,TTN:NM_133432:exon187:c.G75071A:p.R25024H,TTN:NM_133437:exon187:c.G75272A:p.R25091H,TTN:NM_133378:exon307:c.G94187A:p.R31396H,TTN:NM_001256850:exon308:c.G96968A:p.R32323H,TTN:NM_001267550:exon358:c.G101891A:p.R33964H	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	1494	27	0	0	27	0.00895522	.	.	.	56807	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	.	0.0014	0.00599042	0.0044	0.0002	0.0011	0	0	0.0018	0.0022	0.0238	0.0037516	580	154602	rs55669553	0.0022	0.0022	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	7.558e-05	7.493e-05	0.0049	0.0010	0.0027	0.0214	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0244	0.0	0.91255	D	.	.	.	0.105	0.25993	B	0.019	0.18783	B	.	.	.	.	0.999996	0.58761	D	2.965	0.85198	M	0.72	0.50976	T	-3.49	0.69714	D	0.24	0.37509	-0.9165	0.46024	T	0.142	0.46257	T	9	0.0036860704	0.00068	T	.	.	.	0.089	0.25827	.	.	0.202086224978	0.19791	.	.	0.109101829379	0.12303	0.489401757717	0.37355	T	.	.	.	-0.369326	0.03628	T	-0.286368	0.46149	T	0.110552963806189	0.13480	T	0.870213	0.57716	D	.	.	.	.	.	.	.	.	-5.952	0.45876	T	.	.	0.507	0.64884	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.452042	0.31577	18.78	0.92742931441369314	0.22247	0.97406	0.74547	D	AEFBI	.	.	.	0.114307564429706	0.47130	2.943047	0.267253383658903	0.53636	3.531681	0.999999999763111	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.02	5.14	0.70008	5.062000	0.64156	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9341:0.0:0.0659	15.569	0.76062	373	0.84140	.;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.05263	4110.83	33	chr2	178534724	.	C	T	4110.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.67;DP=1847;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.53;SOR=0.668	GT:AD:DP:GQ:PL	0/1:82,72:154:99:2086,0,2106	17	0	2	0
chr2	178537377	178537377	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon183:c.G72635A:p.G24212E,TTN:NM_133432:exon184:c.G73010A:p.G24337E,TTN:NM_133437:exon184:c.G73211A:p.G24404E,TTN:NM_133378:exon304:c.G92126A:p.G30709E,TTN:NM_001256850:exon305:c.G94907A:p.G31636E,TTN:NM_001267550:exon355:c.G99830A:p.G33277E	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	1518	3	0	0	3	0.000987167	.	.	.	56784	Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|TTN-related_disorder|Limb-girdle_muscular_dystrophy,_recessive|not_specified	MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|.|MedGen:CN239352|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	.	.	0.00179712	0.0012	0	0.0002	0	0	1.778e-05	0	0.0107	0.0009314	144	154602	rs397517781	0.0005	0.0005	0.0003	0.0007	0.0079	0.0004	0.0004	0.0074	0.0072	0	2.317e-05	0	0	0	0.0002	2.726e-06	0.0003	0.0079	0.0002	0.0002	9.001e-05	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	0	0.0005	0.0077	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.905	0.84014	M	-0.72	0.72994	T	-6.07	0.93404	D	0.639	0.91505	0.340	0.88184	D	0.622	0.86680	D	9	0.013269186	0.00282	T	.	.	.	0.797	0.93346	0.877	0.96683	0.787362342877	0.78539	.	.	0.526218639335	0.50253	0.689847886562	0.65685	T	.	.	.	-0.120418	0.33056	T	0.058537	0.74148	D	0.217123034449683	0.21319	T	0.90231	0.66926	D	.	.	.	.	.	.	.	.	-9.473	0.70691	D	.	.	0.976	0.90447	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.777519	0.36477	20.3	0.92758354521796416	0.22267	0.98614	0.84715	D	AEFBI	0.911992	0.87201	D	0.949152951046742	0.93950	12.39341	0.903860341396854	0.95739	13.91775	1.0	0.98316	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.79	5.79	0.91751	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	20.036	0.97557	383	0.83590	.;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1655.33	37	chr2	178537377	.	C	T	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=752;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.63;SOR=0.615	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1669,0,1989	18	0	1	0
chr2	178545939	178545939	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon171:c.C68102T:p.S22701F,TTN:NM_133432:exon172:c.C68477T:p.S22826F,TTN:NM_133437:exon172:c.C68678T:p.S22893F,TTN:NM_133378:exon292:c.C87593T:p.S29198F,TTN:NM_001256850:exon293:c.C90374T:p.S30125F,TTN:NM_001267550:exon343:c.C95297T:p.S31766F	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	1496	26	0	0	26	0.00861498	.	.	YES	56719	Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.466	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.003661	566	154602	rs191484894	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.49e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0238	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.58761	D	1.585	0.39878	L	0.2	0.60111	T	-4.0	0.80767	D	0.606	0.84817	-0.1261	0.79492	T	0.442	0.77965	T	9	0.011009574	0.00242	T	.	.	.	0.466	0.76156	.	.	0.724109648524	0.72167	.	.	0.484728417222	0.47373	0.585230708122	0.50822	T	.	.	.	-0.30576	0.08128	T	-0.19506	0.55114	T	0.0716982437541968	0.08888	T	0.914409	0.69449	D	.	.	.	.	.	.	.	.	-8.326	0.63271	D	.	.	0.346	0.56324	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.304615	0.45380	22.1	0.97250835364099031	0.33043	0.98589	0.84429	D	AEFBI	0.886007	0.81703	D	0.843193967595034	0.88718	9.684574	0.802168168336609	0.89944	10.18802	0.99999999999998	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.82	5.82	0.92740	8.055000	0.89243	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	20.109	0.97902	476	0.77720	.;.;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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2302.33	44	chr2	178545939	.	G	A	2302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=811;ExcessHet=0;FS=5.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.392;SOR=0.822	GT:AD:DP:GQ:PL	0/1:80,83:163:99:2316,0,2112	18	0	1	0
chr2	178550073	178550073	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.G64570A:p.A21524T,TTN:NM_133432:exon166:c.G64945A:p.A21649T,TTN:NM_133437:exon166:c.G65146A:p.A21716T,TTN:NM_133378:exon286:c.G84061A:p.A28021T,TTN:NM_001256850:exon287:c.G86842A:p.A28948T,TTN:NM_001267550:exon337:c.G91765A:p.A30589T	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	1495	26	0	0	26	0.00862069	.	.	.	56678	Cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.416	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.0036675	567	154602	rs148617456	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0241	0.0016	0.0015	0.0205	0.0192	0.0002	0	0.0018	0.0009	0	0	0	0.0016	0.0019	0.0241	0.041	0.41915	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.15	0.29295	L	-0.5	0.70480	T	-2.78	0.66085	D	0.487	0.67650	-0.0690	0.80802	T	0.488	0.80515	T	9	0.0062122345	0.00140	T	.	.	.	0.416	0.72631	.	.	0.52628473709	0.52276	.	.	0.457598942377	0.45392	0.550748407841	0.45962	T	.	.	.	-0.333518	0.05850	T	-0.234932	0.51292	T	0.046113912415414	0.04804	T	0.887511	0.61533	D	.	.	.	.	.	.	.	.	-5.9	0.45435	T	.	.	0.140	0.30713	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.063934	0.41155	21.3	0.98470008578502022	0.41849	0.97160	0.73043	D	AEFBI	0.707248	0.66204	D	0.716954307711086	0.80744	7.362555	0.730721168650621	0.84709	8.368916	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	4.921000	0.63096	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.298	0.98571	531	0.73574	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006546	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.026515	0.02632	1972.33	44	chr2	178550073	.	C	T	1972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.506;DP=901;ExcessHet=0;FS=3.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.143;SOR=0.648	GT:AD:DP:GQ:PL	0/1:104,73:177:99:1986,0,2901	18	0	1	0
chr2	178552074	178552074	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.T63631G:p.C21211G,TTN:NM_133432:exon164:c.T64006G:p.C21336G,TTN:NM_133437:exon164:c.T64207G:p.C21403G,TTN:NM_133378:exon284:c.T83122G:p.C27708G,TTN:NM_001256850:exon285:c.T85903G:p.C28635G,TTN:NM_001267550:exon335:c.T90826G:p.C30276G	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	1495	24	2	0	28	0.00927767	.	.	YES	56665	Cardiomyopathy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Tibial_muscular_dystrophy|not_provided|TTN-related_myopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|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|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.478	.	0.0014	0.00599042	0.0041	0.0002	0.0011	0	0	0.0017	0.0011	0.0226	0.0035705	552	154602	rs150430592	0.0021	0.0021	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0003	0.0007	0.0008	5.04e-05	7.493e-05	0.0042	0.0010	0.0027	0.0203	0.0017	0.0017	0.0015	0.0020	0.0234	0.0016	0.0015	0.0199	0.0186	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0234	0.023	0.49613	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	0.315	0.10303	N	0.46	0.56281	T	-7.8	0.95924	D	0.536	0.89020	-0.5797	0.65629	T	0.248	0.61693	T	9	0.008630365	0.00196	T	.	.	.	0.478	0.76946	.	.	0.805810659861	0.80399	.	.	0.515532960109	0.49461	0.735550642014	0.72319	T	.	.	.	-0.259447	0.12965	T	-0.129197	0.61040	T	0.153546478578844	0.17382	T	0.89721	0.67223	D	.	.	.	.	.	.	.	.	-1.482	0.01728	T	.	.	0.482	0.63750	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.871585	0.37970	20.6	0.94809500877476183	0.25568	0.99059	0.90625	D	AEFBI	0.964256	0.98634	D	0.719182480464528	0.80888	7.395654	0.757896083038793	0.86746	8.988923	0.999999995369245	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	9.325000	0.96006	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.075	0.80770	538	0.73119	.;.;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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.018939	0.02632	2752.33	33	chr2	178552074	.	A	C	2752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=902;ExcessHet=0;FS=0.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.515;SOR=0.646	GT:AD:DP:GQ:PL	0/1:146,99:245:99:2766,0,4100	18	0	1	0
chr2	178552364	178552364	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.G63341A:p.R21114H,TTN:NM_133432:exon164:c.G63716A:p.R21239H,TTN:NM_133437:exon164:c.G63917A:p.R21306H,TTN:NM_133378:exon284:c.G82832A:p.R27611H,TTN:NM_001256850:exon285:c.G85613A:p.R28538H,TTN:NM_001267550:exon335:c.G90536A:p.R30179H	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	1496	26	0	0	26	0.00861498	.	.	.	56661	Cardiomyopathy|Primary_dilated_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|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|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.403	.	0.0015	0.0061901	0.0041	0.0002	0.0011	0.0004	0	0.0018	0.0012	0.0265	0.0036481	564	154602	rs149567378	0.0022	0.0023	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0008	0.0008	0.0002	5.702e-05	0.0044	0.0011	0.0030	0.0210	0.0019	0.0019	0.0016	0.0021	0.0243	0.0017	0.0016	0.0207	0.0194	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0017	0.0019	0.0243	0.011	0.55530	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.565	0.39561	L	-0.33	0.68329	T	-3.4	0.71397	D	0.405	0.67995	-0.2039	0.77569	T	0.431	0.77284	T	9	0.006216377	0.00140	T	.	.	.	0.403	0.71636	.	.	0.366277470483	0.36239	.	.	0.515550123524	0.49465	0.626902043819	0.56706	T	.	.	.	-0.330574	0.06068	T	-0.230704	0.51704	T	0.0440367366895231	0.04426	T	0.949405	0.82942	D	.	.	.	.	.	.	.	.	-3.913	0.22497	T	.	.	0.107	0.20038	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.866965	0.37901	20.6	0.92786797022447076	0.22304	0.97433	0.74719	D	AEFBI	0.830258	0.74901	D	0.710948418442647	0.80351	7.274923	0.713889188448926	0.83433	8.02034	0.999999999999992	0.74766	0.554377	0.28877	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	6.170000	0.71810	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	20.324	0.98691	535	0.73288	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.000000	0.009146	0.022727	0.02632	1802.33	33	chr2	178552364	.	C	T	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=806;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.52;SOR=0.815	GT:AD:DP:GQ:PL	0/1:90,61:151:99:1816,0,2600	18	0	1	0
chr2	178563572	178563572	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.C55365A:p.N18455K,TTN:NM_133432:exon155:c.C55740A:p.N18580K,TTN:NM_133437:exon155:c.C55941A:p.N18647K,TTN:NM_133378:exon275:c.C74856A:p.N24952K,TTN:NM_001256850:exon276:c.C77637A:p.N25879K,TTN:NM_001267550:exon326:c.C82560A:p.N27520K	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	1497	25	0	0	25	0.00828089	.	.	.	56579	not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|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|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.417	.	0.0014	0.00579073	0.0042	0.0002	0.0011	0	0	0.0017	0.0011	0.0225	0.003564	551	154602	rs56264840	0.0022	0.0022	0.0016	0.0027	0.0202	0.0021	0.0021	0.0194	0.0191	0.0003	0.0007	0.0008	5.04e-05	7.49e-05	0.0043	0.0010	0.0027	0.0202	0.0017	0.0017	0.0015	0.0020	0.0232	0.0016	0.0015	0.0197	0.0184	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0232	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999825	0.50225	D	2.485	0.72352	M	0.35	0.58029	T	-4.57	0.79659	D	0.379	0.60495	-0.4672	0.69823	T	0.323	0.69212	T	9	0.0070592165	0.00160	T	.	.	.	0.417	0.72705	0.578	0.70347	0.250039746154	0.24611	.	.	0.496214373149	0.48140	0.663874268532	0.61963	T	.	.	.	-0.435452	0.01376	T	-0.382017	0.35485	T	0.133976625754777	0.15744	T	0.934307	0.75413	D	.	.	.	.	.	.	.	.	-10.339	0.75916	D	.	.	0.865	0.80585	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.816132	0.23080	15.88	0.9232112540969486	0.21715	0.94092	0.60088	D	AEFBI	0.724372	0.67370	D	0.448065803602407	0.64093	4.656293	0.379467926255422	0.60300	4.216094	0.00891551601152706	0.11764	0.553676	0.25195	0	0.546412	0.12157	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.97	2.79	0.31792	3.299000	0.51533	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.4327:0.0:0.5673:0.0	7.167	0.24872	443	0.79878	.;.;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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.026515	0.02632	2833.33	36	chr2	178563572	.	G	T	2833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.73;DP=1942;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-1.665;SOR=0.715	GT:AD:DP:GQ:PL	0/1:91,94:185:99:2847,0,2453	18	0	1	0
chr2	178584852	178584852	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon138:c.G37594A:p.V12532M,TTN:NM_133432:exon139:c.G37969A:p.V12657M,TTN:NM_133437:exon139:c.G38170A:p.V12724M,TTN:NM_133378:exon259:c.G57085A:p.V19029M,TTN:NM_001256850:exon260:c.G59866A:p.V19956M,TTN:NM_001267550:exon310:c.G64789A:p.V21597M	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	1495	26	0	0	26	0.00862069	.	.	.	56378	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.518	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0232	0.003661	566	154602	rs150661999	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.492e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0016	0.0020	0.0240	0.0016	0.0015	0.0205	0.0191	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0016	0.0014	0.0240	0.002	0.72154	D	.	.	.	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.999999	0.81001	D	3.11	0.87757	M	-0.35	0.68616	T	-2.23	0.50666	N	0.456	0.64223	0.409	0.89236	D	0.629	0.86960	D	9	0.008097768	0.00184	T	.	.	.	0.518	0.79461	.	.	0.720176921917	0.71771	.	.	0.455381697114	0.45213	0.577912807465	0.49792	T	.	.	.	-0.32077	0.06834	T	-0.216621	0.53063	T	0.0811897725999269	0.10139	T	0.956104	0.83996	D	.	.	.	.	.	.	.	.	-9.665	0.72712	D	.	.	0.691	0.72593	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.813963	0.37048	20.4	0.97582930358672293	0.34747	0.95696	0.65767	D	AEFGBI	0.645504	0.62137	D	0.926986148134166	0.93019	11.76993	0.866370983973504	0.93936	12.38489	0.999999998610919	0.74766	0.525926	0.21836	0	0.546412	0.12157	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	3.342000	0.51877	.	.	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.557	0.99307	415	0.81806	.;.;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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.018939	0.02632	2643.33	35	chr2	178584852	.	C	T	2643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=890;ExcessHet=0;FS=4.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.475;SOR=0.565	GT:AD:DP:GQ:PL	0/1:95,99:194:99:2657,0,2516	18	0	1	0
chr2	178612802	178612802	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon93:c.G22724C:p.S7575T,TTN:NM_133432:exon94:c.G23099C:p.S7700T,TTN:NM_133437:exon94:c.G23300C:p.S7767T,TTN:NM_133378:exon214:c.G42215C:p.S14072T,TTN:NM_001256850:exon215:c.G44996C:p.S14999T,TTN:NM_001267550:exon265:c.G49919C:p.S16640T	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	1498	23	0	0	23	0.00761842	.	.	.	56201	Primary_dilated_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.233	.	0.0015	0.00599042	0.0045	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0037192	575	154602	rs55663050	0.0022	0.0022	0.0016	0.0029	0.0211	0.0022	0.0021	0.0203	0.0199	0.0004	0.0007	0.0008	0.0002	7.498e-05	0.0043	0.0011	0.0030	0.0211	0.0018	0.0018	0.0016	0.0021	0.0245	0.0016	0.0016	0.0209	0.0196	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0245	0.197	0.20607	T	.	.	.	0.997	0.70673	D	0.98	0.74843	D	.	.	.	.	0.999998	0.58761	D	1.295	0.32453	L	-0.35	0.68892	T	-2.19	0.51157	N	0.32	0.53445	-0.1546	0.78803	T	0.443	0.78033	T	9	0.0046233535	0.00096	T	.	.	.	0.233	0.53499	.	.	0.378498632473	0.37457	.	.	0.43613436949	0.43717	0.786140263081	0.79856	T	.	.	.	-0.372229	0.03483	T	-0.290538	0.45718	T	0.048630500485067	0.05257	T	0.822018	0.48145	T	.	.	.	.	.	.	.	.	-2.304	0.04577	T	.	.	0.157	0.34819	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.106696	0.41893	21.4	0.91567465207823096	0.20846	0.98825	0.87349	D	AEFBI	0.947774	0.95869	D	0.782204565675657	0.84981	8.44205	0.790845855814436	0.89147	9.85807	0.999999999973674	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	19.85	0.96733	413	0.81939	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1055.33	34	chr2	178612802	.	C	G	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.528;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.55;SOR=0.688	GT:AD:DP:GQ:PL	0/1:78,42:120:99:1069,0,2206	18	0	1	0
chr2	178617806	178617806	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.C20350A:p.P6784T,TTN:NM_133432:exon82:c.C20725A:p.P6909T,TTN:NM_133437:exon82:c.C20926A:p.P6976T,TTN:NM_133378:exon202:c.C39841A:p.P13281T,TTN:NM_001256850:exon203:c.C42622A:p.P14208T,TTN:NM_001267550:exon253:c.C47545A:p.P15849T	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	1495	26	0	0	26	0.00862069	.	.	.	56178	Cardiomyopathy|not_specified|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|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|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.152	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0233	0.0036804	569	154602	rs146181477	0.0022	0.0022	0.0016	0.0028	0.0211	0.0022	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.056e-05	7.493e-05	0.0043	0.0011	0.0027	0.0211	0.0018	0.0018	0.0015	0.0020	0.0243	0.0016	0.0015	0.0207	0.0193	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0243	0.512	0.07449	T	.	.	.	0.255	0.31319	B	0.071	0.27960	B	.	.	.	.	0.814352	0.30443	N	1.735	0.44892	L	0.74	0.50459	T	-3.86	0.75058	D	0.332	0.41162	-0.8910	0.48846	T	0.128	0.43482	T	9	0.004316628	0.00087	T	.	.	.	0.152	0.39956	.	.	0.227934060464	0.22382	.	.	0.106357007443	0.12022	0.341280579567	0.16630	T	.	.	.	-0.478698	0.00753	T	-0.443473	0.28420	T	0.0223469174444407	0.00947	T	0.905909	0.66829	D	.	.	.	.	.	.	.	.	-5.205	0.38992	T	.	.	0.097	0.15832	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.764698	0.36273	20.2	0.89396471440767089	0.18761	0.95196	0.63793	D	AEFBI	0.624755	0.60821	D	0.183013412871647	0.50385	3.228884	0.349756529587991	0.58493	4.02008	0.999987839813543	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	3.839000	0.55539	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.841	0.96687	426	0.81110	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1955.33	34	chr2	178617806	.	G	T	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.031;DP=798;ExcessHet=0;FS=2.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.062;SOR=0.957	GT:AD:DP:GQ:PL	0/1:88,74:162:99:1969,0,2452	18	0	1	0
chr2	178621649	178621649	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon73:c.G17980A:p.A5994T,TTN:NM_133432:exon74:c.G18355A:p.A6119T,TTN:NM_133437:exon74:c.G18556A:p.A6186T,TTN:NM_133378:exon194:c.G37471A:p.A12491T,TTN:NM_001256850:exon195:c.G40252A:p.A13418T,TTN:NM_001267550:exon245:c.G45175A:p.A15059T	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	2	1497	23	0	0	23	0.00762347	.	.	.	56147	Cardiomyopathy|not_specified|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|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|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.366	.	0.0015	0.00339457	0.0033	0.0003	0.0011	0	0	0.0018	0.0011	0.0159	0.0027943	432	154602	rs144668626	0.0019	0.0019	0.0014	0.0024	0.0155	0.0018	0.0018	0.0148	0.0145	0.0003	0.0007	0.0009	2.529e-05	7.498e-05	0.0035	0.0011	0.0024	0.0155	0.0016	0.0016	0.0014	0.0018	0.0193	0.0014	0.0014	0.0161	0.0149	0.0001	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0193	0.023	0.48186	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.215	0.62545	M	-0.24	0.66834	T	-2.79	0.61722	D	0.361	0.68950	-0.0744	0.80678	T	0.501	0.81134	D	9	0.006442368	0.00146	T	.	.	.	0.366	0.68582	.	.	0.430239905395	0.42638	.	.	0.457598942377	0.45392	0.454853713512	0.32607	T	.	.	.	-0.293428	0.09295	T	-0.181941	0.56343	T	0.0415014445753765	0.03963	T	0.947205	0.79675	D	.	.	.	.	.	.	.	.	-6.072	0.47988	T	.	.	0.109	0.20741	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.702705	0.52822	23.3	0.96553543848679368	0.30233	0.98914	0.88555	D	AEFBI	0.936874	0.93382	D	0.897424415611873	0.91632	10.983	0.902844141597971	0.95695	13.87403	0.999999999999998	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	20.879	0.99870	421	0.81399	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.022727	0.02632	3139.33	35	chr2	178621649	.	C	T	3139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=880;ExcessHet=0;FS=1.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.72;SOR=0.612	GT:AD:DP:GQ:PL	0/1:131,115:246:99:3153,0,3144	18	0	1	0
chr2	178659026	178659026	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon155:c.C31720T:p.P10574S,TTN:NM_001256850:exon156:c.C34501T:p.P11501S,TTN:NM_001267550:exon182:c.C37432T:p.P12478S	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	233	1271	16	2	0	20	0.0078064	.	.	.	56080	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|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|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0164089182367	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs200992277	0.0027	0.0022	0.0019	0.0034	0.0214	0.0026	0.0025	0.0204	0.0200	0.0004	0.0009	0.0009	0.0002	6.625e-05	0.0046	0.0014	0.0029	0.0214	0.0022	0.0019	0.0018	0.0026	0.0313	0.0020	0.0019	0.0261	0.0242	0.0002	0	0.0024	0.0011	0	0	0	0.0021	0.0022	0.0313	0.04	0.42199	D	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999912	0.51042	D	.	.	.	-0.61	0.71779	T	-3.52	0.68412	D	0.182	0.22357	-0.6420	0.63060	T	0.242	0.61012	T	9	0.0039824545	0.00077	T	0.016409	0.37653	T	0.131	0.35738	.	.	0.242244723065	0.23846	.	.	0.10059525999	0.11367	0.374639153481	0.21494	T	.	.	.	-0.104603	0.35662	T	-0.388031	0.34782	T	0.0182385127210197	0.00544	T	0.525248	0.26315	T	.	.	.	.	.	.	.	.	-8.519	0.64555	D	.	.	0.159	0.35098	B	.;.;.	.;.;.	1.398936	0.18129	13.56	0.77473308228391879	0.11891	0.11269	0.16522	N	AEFI	0.073094	0.14609	N	-0.457765735320585	0.23478	1.261062	-0.487687774750454	0.22491	1.221904	0.00265572977610148	0.09608	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	1.01	0.19044	-0.131000	0.10461	.	.	0.508000	0.23123	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.1907:0.1228:0.4717:0.2148	1.972	0.03202	441	0.80015	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	326.36	5	chr2	178659026	.	G	A	326.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.026;MQ=26.2;MQRankSum=0.688;QD=15.54;ReadPosRankSum=0;SOR=0.387	GT:AD:DP:GQ:PL	0/1:8,13:21:99:340,0,177	18	0	1	0
chr2	178659050	178659050	C	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon155:c.G31696T:p.V10566L,TTN:NM_001256850:exon156:c.G34477T:p.V11493L,TTN:NM_001267550:exon182:c.G37408T:p.V12470L	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	260	1256	5	1	0	7	0.00277888	.	.	.	102176	Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_9|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.179	0.0109321475301	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs398124448	0.0007	0.0007	0.0005	0.0009	0.0060	0.0006	0.0006	0.0054	0.0052	0.0003	0.0016	0.0001	0.0003	0	0.0007	0.0003	0.0008	0.0060	0.0006	0.0011	0.0006	0.0006	0.0030	0.0005	0.0004	0.0016	0.0012	0.0005	0	0.0020	0	0	0	0	0.0004	0.0022	0.0030	0.162	0.23541	T	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-1.01	0.76168	T	-1.13	0.29114	N	0.045	0.02559	-0.5890	0.65260	T	0.373	0.73159	T	9	0.008723885	0.00198	T	0.010932	0.28020	T	0.179	0.44899	0.36	0.36385	0.312608672186	0.30878	.	.	0.15123232868	0.17072	0.400403320789	0.25125	T	.	.	.	-0.131645	0.31232	T	-0.426876	0.30291	T	0.0208958887590466	0.00790	T	0.427757	0.45191	T	.	.	.	.	.	.	.	.	-8.083	0.61635	D	.	.	0.183	0.39664	B	.;.;.	.;.;.	0.492161	0.08614	5.382	0.67442982664134965	0.08356	0.07155	0.13180	N	AEFI	0.109734	0.21786	N	-0.626383833471058	0.18155	0.9402753	-0.733430989941681	0.16130	0.8518425	0.00459449338617584	0.10632	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	1.74	0.23636	-1.590000	0.02205	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.676000	0.33425	0.0:0.7439:0.0:0.2561	8.944	0.34907	441	0.80015	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	187.38	6	chr2	178659050	.	C	A	187.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.528;DP=274;ExcessHet=0;FS=0;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.026;MQ=26.1;MQRankSum=-0.621;QD=8.15;ReadPosRankSum=-0.756;SOR=1.179	GT:AD:DP:GQ:PL	0/1:14,9:23:99:201,0,363	18	0	1	0
chr2	178675085	178675085	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon145:c.A30663C:p.E10221D,TTN:NM_001256850:exon146:c.A33444C:p.E11148D,TTN:NM_001267550:exon150:c.A34566C:p.E11522D	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	2	1497	23	0	0	23	0.00762347	.	.	.	56069	Tibial_muscular_dystrophy|Cardiomyopathy|not_specified|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0036869	570	154602	rs140640738	0.0021	0.0022	0.0015	0.0026	0.0204	0.0020	0.0020	0.0195	0.0192	0.0005	0.0007	0.0009	0.0002	7.563e-05	0.0039	0.0010	0.0028	0.0204	0.0018	0.0018	0.0016	0.0021	0.0239	0.0016	0.0016	0.0204	0.0190	0.0003	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0239	0.226	0.18562	T	.	.	.	0.256	0.31372	B	0.076	0.28435	B	.	.	.	.	1	0.81001	D	2.395	0.69210	M	-0.99	0.76168	T	-1.17	0.29933	N	0.162	0.17002	-0.6563	0.62439	T	0.287	0.65899	T	9	0.0028508902	0.00045	T	.	.	.	0.114	0.32008	0.103	0.01643	0.315314060047	0.31143	.	.	0.0921290850825	0.10402	0.378360688686	0.22023	T	.	.	.	-0.455528	0.01047	T	-0.410855	0.32125	T	0.0261382429619195	0.01425	T	0.39586	0.12846	T	.	.	.	.	.	.	.	.	-8.571	0.64898	D	.	.	0.381	0.58487	A	.;.;.;.	.;.;.;.	2.365297	0.30344	18.41	0.79256076521976482	0.12660	0.92980	0.57023	D	AEFBI	0.394143	0.47151	N	-0.239806522051127	0.31511	1.767698	-0.183750437617861	0.32132	1.825115	0.00121544646940768	0.08343	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.842000	0.27280	.	.	0.665000	0.62972	0.955000	0.33325	1.000000	0.68203	0.867000	0.41218	0.126:0.0681:0.0:0.806	7.624	0.27367	394	0.83065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	642.33	39	chr2	178675085	.	T	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=694;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.643;SOR=0.913	GT:AD:DP:GQ:PL	0/1:53,25:78:99:656,0,1387	18	0	1	0
chr2	178717244	178717244	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon85:c.G21758A:p.R7253H,TTN:NM_001256850:exon86:c.G24539A:p.R8180H,TTN:NM_001267550:exon88:c.G25490A:p.R8497H	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	1495	26	0	0	26	0.00862069	.	.	.	55924	Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_provided|not_specified|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.192	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.0037192	575	154602	rs149855485	0.0023	0.0023	0.0016	0.0029	0.0210	0.0022	0.0022	0.0202	0.0199	0.0004	0.0007	0.0008	7.559e-05	7.493e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0196	0.0002	0	0.0017	0.0009	0.0002	0	0	0.0017	0.0014	0.0245	0.043	0.41364	D	.	.	.	0.99	0.63424	D	0.683	0.53559	P	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-2.41	0.52938	N	0.226	0.32259	-0.4178	0.71463	T	0.313	0.68326	T	9	0.005892992	0.00132	T	.	.	.	0.192	0.47115	.	.	0.44711355012	0.44333	.	.	0.349254591091	0.36782	0.562482059002	0.47618	T	.	.	.	-0.371096	0.03539	T	-0.288911	0.45886	T	0.0385244386504448	0.03425	T	0.869813	0.73860	D	.	.	.	.	.	.	.	.	-5.161	0.38543	T	.	.	0.216	0.44617	B	.;.;.;.	.;.;.;.	3.448176	0.47999	22.5	0.86646601825568803	0.16677	0.81721	0.41068	D	AEFBCI	0.334148	0.43301	N	0.419899694833852	0.62517	4.468879	0.441882660854808	0.64196	4.669426	0.364662819652845	0.19811	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	1.594000	0.36307	.	.	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	19.812	0.96549	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.012195	0.018939	0.02632	1507.33	34	chr2	178717244	.	C	T	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=750;ExcessHet=0;FS=3.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.19;SOR=0.61	GT:AD:DP:GQ:PL	0/1:73,54:127:99:1521,0,1822	18	0	1	0
chr2	178720104	178720104	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon78:c.C19806G:p.F6602L,TTN:NM_001256850:exon79:c.C22587G:p.F7529L,TTN:NM_001267550:exon81:c.C23538G:p.F7846L	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	1496	26	0	0	26	0.00861498	.	.	.	55886	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy|Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.185	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs149523263	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0003	0.0007	0.0008	5.039e-05	7.491e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0245	0.315	0.13789	T	.	.	.	0.885	0.48692	P	0.484	0.47189	P	.	.	.	.	0.992504	0.41663	D	.	.	.	-0.23	0.66652	T	-3.28	0.65627	D	0.39	0.45615	-0.5456	0.66952	T	0.246	0.61530	T	9	0.0049153566	0.00105	T	.	.	.	0.185	0.45933	0.578	0.70347	0.323615622048	0.31974	.	.	0.255002372626	0.28080	0.692162632942	0.66016	T	.	.	.	-0.403512	0.02196	T	-0.335473	0.40855	T	0.0733571982613626	0.09114	T	0.655934	0.29249	T	.	.	.	.	.	.	.	.	-5.741	0.47264	T	.	.	0.925	0.84574	P	.;.;.;.	.;.;.;.	0.710161	0.10788	7.474	0.85799480559834507	0.16120	0.31520	0.24358	N	AEFBI	0.349517	0.44328	N	-0.44675294682716	0.23851	1.283709	-0.585824586972663	0.19863	1.06759	0.0050570851190488	0.10811	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	-2.56	0.05903	0.894000	0.27983	.	.	-0.113000	0.14837	0.173000	0.23973	0.001000	0.17328	0.989000	0.64315	0.7189:0.0:0.2811:0.0	13.015	0.58157	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1556.33	44	chr2	178720104	.	G	C	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.702;DP=839;ExcessHet=0;FS=3.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.775;SOR=0.959	GT:AD:DP:GQ:PL	0/1:91,58:149:99:1570,0,2610	18	0	1	0
chr2	178727190	178727190	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon66:c.A16443G:p.I5481M,TTN:NM_001256850:exon67:c.A19224G:p.I6408M,TTN:NM_001267550:exon69:c.A20175G:p.I6725M	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	2	1494	26	0	0	26	0.00862641	.	.	.	55832	Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|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|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs146627500	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0201	0.0198	0.0003	0.0007	0.0008	5.04e-05	7.492e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0244	0.114	0.28646	T	.	.	.	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.42502	T	-0.54	0.16598	N	0.282	0.31925	-1.0827	0.06833	T	0.056	0.23753	T	9	0.003027141	0.00050	T	.	.	.	0.090	0.26093	.	.	0.134241683229	0.13084	.	.	0.0864879405707	0.09766	0.372696995735	0.21219	T	.	.	.	-0.5345	0.00361	T	-0.523629	0.19927	T	0.0105953431527729	0.00148	T	0.708229	0.31875	T	.	.	.	.	.	.	.	.	-3.332	0.15587	T	.	.	0.111	0.21691	B	.;.;.;.	.;.;.;.	0.350729	0.07236	3.837	0.62127654994000703	0.06883	0.05411	0.11281	N	AEFGBCI	0.125355	0.24182	N	-1.21182827757915	0.04826	0.2186909	-1.26363312318132	0.04932	0.2338384	0.999762739685858	0.42728	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	-6.74	0.01580	-0.713000	0.05110	.	.	-0.123000	0.13640	0.033000	0.20612	0.000000	0.08366	0.939000	0.47918	0.4322:0.3181:0.0839:0.1659	2.94	0.05470	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2003.33	35	chr2	178727190	.	T	C	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.786;DP=798;ExcessHet=0;FS=1.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.007;SOR=0.565	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2017,0,2137	18	0	1	0
chr2	178729332	178729332	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.A15092G:p.N5031S,TTN:NM_001256850:exon62:c.A17873G:p.N5958S,TTN:NM_001267550:exon64:c.A18824G:p.N6275S	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	2	1493	27	0	0	27	0.00896117	.	.	.	55811	Primary_dilated_cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	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|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.286	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0244	0.0037904	586	154602	rs184412722	0.0023	0.0023	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	0.0002	7.493e-05	0.0042	0.0011	0.0030	0.0214	0.0018	0.0018	0.0015	0.0022	0.0244	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.418e-05	0	0.0017	0.0019	0.0244	0.075	0.34444	T	.	.	.	0.362	0.33945	B	0.11	0.31460	B	.	.	.	.	1	0.81001	D	.	.	.	0.32	0.58468	T	-2.25	0.50337	N	0.417	0.45709	-0.5551	0.66591	T	0.244	0.61272	T	9	0.005814582	0.00130	T	.	.	.	0.286	0.60456	.	.	0.173771789658	0.16945	.	.	0.0891353627514	0.10071	0.453017085791	0.32355	T	.	.	.	-0.448893	0.01146	T	-0.400661	0.33307	T	0.0272107643053202	0.01574	T	0.841416	0.55722	T	.	.	.	.	.	.	.	.	-5.947	0.45833	T	.	.	0.347	0.56370	A	.;.;.;.	.;.;.;.	2.852582	0.37665	20.6	0.93888962463808012	0.23911	0.97952	0.78382	D	AEFBI	0.889010	0.82269	D	0.31910689628272	0.57128	3.879228	0.382029825457792	0.60457	4.233519	0.999998892425968	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	6.260000	0.72463	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.068:0.0:0.932	12.2	0.53629	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2283.33	34	chr2	178729332	.	T	C	2283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.58;DP=950;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.45;SOR=0.652	GT:AD:DP:GQ:PL	0/1:92,90:182:99:2297,0,2449	18	0	1	0
chr2	178731800	178731800	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.T13343C:p.V4448A,TTN:NM_001256850:exon56:c.T16124C:p.V5375A,TTN:NM_001267550:exon58:c.T17075C:p.V5692A	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	.	.	.	.	.	.	.	.	.	.	228834	Cardiomyopathy|not_specified	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.132	0.00785641332453	.	0.000199681	6.627e-05	0	0	0	0	1.499e-05	0	0.0004	5.82e-05	9	154602	rs570039271	2.395e-05	2.394e-05	1.906e-05	2.888e-05	0.0004	1.739e-05	1.539e-05	0.0003	0.0002	0	0	0	2.52e-05	0	0	8.995e-07	3.313e-05	0.0004	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	.	.	.	0.022	0.18677	B	0.027	0.21085	B	.	.	.	.	1	0.81001	D	.	.	.	1.05	0.39990	T	-1.88	0.43906	N	0.354	0.40164	-1.0626	0.11118	T	0.068	0.27980	T	9	0.085484326	0.14435	T	0.007856	0.20851	T	0.132	0.35948	0.578	0.70347	0.33440975612	0.33058	.	.	0.107757450643	0.12158	0.429047346115	0.29078	T	.	.	.	-0.35599	0.04362	T	-0.406401	0.32642	T	0.0460064222241467	0.04784	T	0.454655	0.21965	T	.	.	.	.	.	.	.	.	-2.058	0.03408	T	.	.	0.281	0.51445	B	.;.;.;.	.;.;.;.	2.201220	0.28072	17.68	0.87786845563754301	0.17481	0.89743	0.50406	D	AEFBI	0.439232	0.49829	N	-0.137513211814065	0.35767	2.058684	0.0913943659929411	0.44115	2.699501	0.999907575942255	0.45458	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	3.864000	0.55736	.	.	0.756000	0.94297	0.993000	0.37899	0.999000	0.35428	0.897000	0.43391	1.0:0.0:0.0:0.0	16.394	0.83400	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2112.33	34	chr2	178731800	.	A	G	2112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=914;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=0.493;SOR=0.575	GT:AD:DP:GQ:PL	0/1:59,69:128:99:2126,0,1706	18	0	1	0
chr2	178739374	178739374	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.G12770A:p.G4257D,TTN:NM_001256850:exon46:c.G12908A:p.G4303D,TTN:NM_133432:exon46:c.G13145A:p.G4382D,TTN:NM_133437:exon46:c.G13346A:p.G4449D,TTN:NM_001267550:exon48:c.G13859A:p.G4620D	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	1494	27	0	0	27	0.00895522	.	.	.	57005	not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Tibial_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.404	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0237	0.0038033	588	154602	rs55857742	0.0023	0.0023	0.0016	0.0029	0.0215	0.0022	0.0022	0.0207	0.0203	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0011	0.0030	0.0215	0.0018	0.0018	0.0015	0.0022	0.0245	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.413e-05	0	0.0017	0.0019	0.0245	0.072	0.43708	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.39	0.80387	T	-3.42	0.67241	D	0.18	0.29544	-0.4215	0.71343	T	0.463	0.79184	T	9	0.0029836297	0.00049	T	.	.	.	0.404	0.71714	.	.	0.460085558651	0.45632	.	.	0.111281827237	0.12551	0.334556162357	0.15621	T	.	.	.	-0.303831	0.08303	T	-0.191623	0.55438	T	0.0117996802454498	0.00183	T	0.761124	0.38584	T	.	.	.	.	.	.	.	.	-6.471	0.51765	T	.	.	0.263	0.49778	B	.;.;.;.;.;.	.;.;.;.;.;.	2.343047	0.30033	18.31	0.8799622643053111	0.17638	0.83349	0.42473	D	AEFBI	0.400265	0.47522	N	0.110203264691486	0.46938	2.926641	0.242081919184515	0.52201	3.396456	0.989212832954963	0.31756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	4.11	0.47350	2.483000	0.44891	.	.	0.599000	0.40250	0.985000	0.35982	0.982000	0.30508	0.916000	0.45140	0.0:0.8472:0.0:0.1528	12.781	0.56855	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.026515	0.02632	2740.33	34	chr2	178739374	.	C	T	2740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.386;DP=860;ExcessHet=0;FS=2.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.742;SOR=0.788	GT:AD:DP:GQ:PL	0/1:140,104:244:99:2754,0,3879	18	0	1	0
chr2	178747908	178747908	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G14492A:p.C4831Y	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	1495	27	0	0	27	0.00894929	.	.	.	56937	not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0016	0.00599042	0.0048	0.0002	0.0013	0.0002	0.0002	0.0024	0.0022	0.0236	0.004075	630	154602	rs150615457	0.0025	0.0025	0.0019	0.0031	0.0214	0.0024	0.0024	0.0206	0.0202	0.0004	0.0007	0.0078	0.0002	7.494e-05	0.0043	0.0012	0.0034	0.0214	0.0020	0.0020	0.0017	0.0023	0.0243	0.0018	0.0018	0.0207	0.0194	0.0003	0	0.0020	0.0069	0	9.418e-05	0	0.0018	0.0019	0.0243	0.164	0.23360	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.49	0.55775	T	-0.62	0.18248	N	0.365	0.40665	-1.0397	0.17404	T	0.056	0.23677	T	9	0.0023964047	0.00036	T	.	.	.	0.071	0.20720	.	.	0.104622674875	0.10061	.	.	.	.	.	.	.	.	.	.	-0.606244	0.00133	T	-0.626684	0.10667	T	0.000297577760647982	0.00002	T	0.352165	0.07899	T	.	.	.	.	.	.	.	.	-2.316	0.04644	T	.	.	.	.	.	.	.	0.582094	0.09507	6.283	0.46977788880536381	0.03805	0.06117	0.12094	N	ALL	0.051159	0.09011	N	-1.2018487862931	0.04973	0.2256495	-1.16424173951511	0.06516	0.3138828	0.999981151506482	0.51787	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.62	-0.0456	0.13179	0.703000	0.25321	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.1987:0.2859:0.0:0.5154	4.639	0.11923	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007553	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.030303	0.02632	2179.33	35	chr2	178747908	.	C	T	2179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.569;DP=1089;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=2.78;SOR=0.708	GT:AD:DP:GQ:PL	0/1:122,84:206:99:2193,0,3570	18	0	1	0
chr2	178775871	178775871	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.G5855A:p.R1952H,TTN:NM_133432:exon27:c.G5855A:p.R1952H,TTN:NM_133437:exon27:c.G5855A:p.R1952H,TTN:NM_001256850:exon28:c.G5993A:p.R1998H,TTN:NM_001267550:exon28:c.G5993A:p.R1998H,TTN:NM_133378:exon28:c.G5993A:p.R1998H,TTN:NM_133379:exon28:c.G5993A:p.R1998H	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	1518	4	0	0	4	0.00131579	.	.	.	56421	Tip-toe_gait|Tibial_muscular_dystrophy|TTN-related_myopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|not_provided|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0481180325089	0.0008	0.00159744	0.0018	0	8.649e-05	0.0001	0	0.0012	0.0011	0.0079	0.0014553	225	154602	rs144135510	0.0009	0.0009	0.0007	0.0012	0.0077	0.0009	0.0009	0.0072	0.0070	0.0002	0.0002	0.0078	2.519e-05	1.872e-05	0.0012	0.0004	0.0011	0.0077	0.0008	0.0008	0.0007	0.0009	0.0087	0.0007	0.0006	0.0066	0.0059	0.0001	0	0.0002	0.0066	0	0	0	0.0007	0	0.0087	0.017	0.53900	D	0.001	0.83351	D	1.0	0.90584	D	0.939	0.75477	D	.	.	.	.	0.937106	0.37179	D	.	.	.	-0.2	0.66113	T	-3.12	0.76496	D	0.338	0.62611	-0.3866	0.72448	T	0.343	0.70851	T	9	0.0073085725	0.00166	T	0.048118	0.63228	D	0.246	0.55340	.	.	0.323342291347	0.31936	.	.	0.4417022315	0.44153	0.709797382355	0.68565	T	.	.	.	-0.303787	0.08307	T	-0.20458	0.54212	T	0.0792865792762227	0.09894	T	0.979302	0.94722	D	.	.	.	.	.	.	.	.	-8.638	0.66661	D	.	.	0.230	0.46250	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.859124	0.79503	27.1	0.97431441238290972	0.33931	0.90618	0.51944	D	AEFBI	0.704456	0.66017	D	0.570552651699765	0.71343	5.636335	0.589103562354271	0.74155	6.089477	0.999991015998139	0.74766	0.553676	0.25195	0	0.54472	0.11627	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	4.802000	0.62233	.	.	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	18.559	0.91047	344	0.85734	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001514	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2042.33	33	chr2	178775871	.	C	T	2042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=828;ExcessHet=0;FS=8.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.929;SOR=0.64	GT:AD:DP:GQ:PL	0/1:68,70:138:99:2056,0,1785	18	0	1	0
chr2	178795088	178795088	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon7:c.G1079C:p.R360T,TTN:NM_001267550:exon7:c.G1079C:p.R360T,TTN:NM_003319:exon7:c.G1079C:p.R360T,TTN:NM_133378:exon7:c.G1079C:p.R360T,TTN:NM_133379:exon7:c.G1079C:p.R360T,TTN:NM_133432:exon7:c.G1079C:p.R360T,TTN:NM_133437:exon7:c.G1079C:p.R360T	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	1498	24	0	0	24	0.00794702	.	.	.	55752	Tibial_muscular_dystrophy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.205	.	0.0062	0.0119808	0.0062	0.0158	0.0023	0	0.0002	0.0024	0.0022	0.0242	0.0056015	866	154602	rs56128843	0.0029	0.0029	0.0024	0.0035	0.0222	0.0028	0.0028	0.0213	0.0210	0.0161	0.0017	0.0078	5.04e-05	5.63e-05	0.0045	0.0011	0.0043	0.0222	0.0061	0.0061	0.0058	0.0064	0.0253	0.0057	0.0056	0.0217	0.0203	0.0139	0	0.0042	0.0069	0	9.414e-05	0.0034	0.0018	0.0047	0.0253	0.202	0.40573	T	0.148	0.32675	T	0.049	0.39849	B	0.024	0.35463	B	.	.	.	.	0.991562	0.24656	N	.	.	.	0.05	0.61923	T	-2.16	0.55501	N	0.211	0.26111	-1.0117	0.26385	T	0.084	0.32872	T	9	0.0042310655	0.00085	T	.	.	.	0.205	0.49236	.	.	0.326074293725	0.32213	.	.	0.131694048728	0.14851	0.443247795105	0.31022	T	.	.	.	-0.358862	0.04195	T	-0.270672	0.47751	T	0.00485736865674171	0.00052	T	0.771723	0.42389	T	.	.	.	.	.	.	.	.	-3.089	0.12383	T	.	.	0.258	0.49285	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.871459	0.37970	20.6	0.87640978987418272	0.17374	0.93855	0.59386	D	AEFDBI	0.579134	0.58006	D	-0.140723798226333	0.35630	2.049057	0.0513447974566371	0.42138	2.543468	0.997183769758073	0.35354	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.566403	0.31848	0	.	.	6.16	4.37	0.51830	1.105000	0.30699	.	.	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.990000	0.65344	0.0:0.6524:0.1423:0.2053	6.433	0.21009	365	0.84644	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008560	0.000000	0.004076	0.008772	0.000000	0.000000	0.009146	0.034091	0.02632	2937.33	34	chr2	178795088	.	C	G	2937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.826;DP=876;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.12;SOR=0.644	GT:AD:DP:GQ:PL	0/1:139,109:248:99:2951,0,3844	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,21:46:99:.:.:103,0,182:.	6	0	11	2
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,38:90:99:.:.:397,0,1007:.	1	0	17	1
chr2	201160933	201160933	G	A	exonic	CFLAR	.	nonsynonymous SNV	CFLAR:NM_001202515:exon5:c.G560A:p.R187K,CFLAR:NM_001202516:exon7:c.G1190A:p.R397K,CFLAR:NM_001202518:exon7:c.G1007A:p.R336K,CFLAR:NM_001202517:exon8:c.G1007A:p.R336K,CFLAR:NM_001202519:exon8:c.G1007A:p.R336K,CFLAR:NM_001351593:exon8:c.G1007A:p.R336K,CFLAR:NM_001127183:exon9:c.G1295A:p.R432K,CFLAR:NM_001308042:exon9:c.G1295A:p.R432K,CFLAR:NM_001351590:exon9:c.G1295A:p.R432K,CFLAR:NM_001351594:exon9:c.G1007A:p.R336K,CFLAR:NM_003879:exon9:c.G1295A:p.R432K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00342275112978	.	0.000199681	8.555e-06	0	8.763e-05	0	0	0	0	0	1.29e-05	2	154602	rs566207314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.562e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.892	0.04699	T	1.0	0.02405	T	0.063	0.23376	B	0.016	0.17743	B	0.053183	0.02046	N	2.080600	1	0.08975	N	-0.295	0.03650	N	2.21	0.18414	T	-0.52	0.20791	N	0.059	0.05037	-1.0099	0.26949	T	0.018	0.07518	T	10	0.022605062	0.00569	T	0.003423	0.07694	T	0.010	0.01040	0.449	0.50957	0.273495378476	0.26946	0.11921836544816607	0.11848	0.312835549356	0.33584	0.189612329006	0.00218	T	0.044849	0.26942	T	-0.409527	0.02002	T	-0.743169	0.03759	T	0.0234076575103754	0.01071	T	0.589341	0.23687	T	0.15382072	0.34848	0.07198937	0.15479	0.15382072	0.34848	0.07198937	0.15479	-3.531	0.19437	T	.	.	0.084	0.13315	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.532941	0.09019	5.798	0.71678106310043155	0.09711	0.08471	0.14396	N	AEFBCI	0.069019	0.13641	N	-1.43417232918198	0.02344	0.1034015	-1.41354769727289	0.03116	0.14472	0.940755135023365	0.27446	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.61	-4.0	0.03787	-0.453000	0.06853	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.748000	0.35716	0.4722:0.0:0.3083:0.2196	5.232	0.14749	606	0.67383	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	737.33	39	chr2	201160933	.	G	A	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=0.202;SOR=0.593	GT:AD:DP:GQ:PL	0/1:15,24:39:99:751,0,421	18	0	1	0
chr2	206308333	206308333	G	C	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.G3805C:p.E1269Q,ZDBF2:NM_001369654:exon6:c.G3805C:p.E1269Q,ZDBF2:NM_001285549:exon7:c.G3799C:p.E1267Q	.	.	.	.	.	.	.	.	.	.	.	2099295	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.00957340914372	0.0002	0.000599042	0.0004	0	0.0003	0	0.0002	0.0007	0	6.087e-05	0.0003363	52	154602	rs200401599	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	0.0003	0.0004	0	9.37e-05	0.0016	0.0002	0.0004	0.0001	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0006	0.0005	0	0	0.0010	0.0003	0	0	0.0034	0.0003	0.0005	0	0.029	0.45756	D	0.05	0.48080	T	0.816	0.45573	P	0.245	0.38823	B	.	.	.	.	1	0.08975	N	2.51	0.73131	M	0.87	0.46412	T	-0.95	0.25332	N	0.216	0.24135	-1.0307	0.20227	T	0.086	0.33494	T	9	0.01539582	0.00323	T	0.009573	0.25039	T	0.048	0.13305	.	.	0.15556083564	0.15200	0.05877836932939441	0.05818	0.147075874367	0.16591	0.305474549532	0.11222	T	0.008575	0.23230	T	-0.410895	0.01960	T	-0.493849	0.22988	T	0.0364984075277462	0.03069	T	.	.	.	0.06446912	0.13681	0.045912184	0.06281	0.06446912	0.13680	0.045912184	0.06281	-6.711	0.51893	T	.	.	0.134	0.35288	B	.;.;.;.	.;.;.;.	0.416427	0.07869	4.572	0.97659341581278192	0.35189	0.04810	0.10532	N	AEFBI	0.046405	0.07703	N	-0.691015239486307	0.16276	0.8278241	-0.862351121856735	0.12991	0.6714441	1.07555770039288E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	3.95	-0.967	0.09789	-0.466000	0.06749	0.696000	0.20807	-0.113000	0.14837	0.053000	0.21524	0.993000	0.31925	0.754000	0.35928	0.5327:0.0:0.4673:0.0	7.298	0.25575	896	0.25515	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1704.33	34	chr2	206308333	.	G	C	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.711;DP=1233;ExcessHet=0;FS=0.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-0.52;SOR=0.579	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1718,0,1319	18	0	1	0
chr2	207621902	207621902	T	A	exonic	METTL21A	.	nonsynonymous SNV	METTL21A:NM_001127395:exon3:c.A163T:p.T55S,METTL21A:NM_001308021:exon3:c.A163T:p.T55S,METTL21A:NM_001330130:exon3:c.A163T:p.T55S,METTL21A:NM_001330131:exon3:c.A163T:p.T55S,METTL21A:NM_001330132:exon3:c.A163T:p.T55S,METTL21A:NM_001330133:exon3:c.A163T:p.T55S,METTL21A:NM_001330134:exon3:c.A163T:p.T55S,METTL21A:NM_001330135:exon3:c.A163T:p.T55S,METTL21A:NM_001330136:exon3:c.A163T:p.T55S,METTL21A:NM_001330137:exon3:c.A163T:p.T55S,METTL21A:NM_145280:exon3:c.A163T:p.T55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00936244137289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1054668047	5.473e-06	5.472e-06	5.445e-06	5.5e-06	7.194e-06	2.35e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	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	0.503	0.07670	T	0.501	0.11153	T	0.073	0.24078	B	0.037	0.29769	B	0.001703	0.38216	N	0.304002	1	0.81001	D	0.865	0.21413	L	0.98	0.42122	T	0.06	0.08187	N	0.274	0.37717	-1.0287	0.20876	T	0.066	0.27121	T	10	0.14929524	0.28257	T	0.009362	0.24553	T	0.018	0.03083	.	.	0.341460817117	0.33762	0.2946763549382778	0.29380	0.244826148591	0.27001	0.383210778236	0.22711	T	0.004078	0.03719	T	-0.221709	0.17761	T	-0.54076	0.18221	T	0.0412933103469645	0.03925	T	0.344566	0.31676	T	0.14242405	0.32776	0.059970174	0.11343	0.14242405	0.32776	0.059970174	0.11342	-8.07	0.63971	D	.	.	0.136	0.29642	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.366214	0.17758	13.35	0.8613972970934104	0.16339	0.76226	0.37369	D	AEFDGBCI	0.308862	0.41532	N	-0.729148402418669	0.15205	0.7642961	-0.693312065432016	0.17127	0.9093147	0.999988654938015	0.51787	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.549297	0.17558	0	.	.	4.08	1.64	0.22949	1.155000	0.31311	0.399000	0.17978	-0.120000	0.14102	1.000000	0.71638	0.967000	0.29559	0.064000	0.16252	0.0:0.2644:0.0:0.7356	8.121	0.30132	565	0.70868	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	34	chr2	207621902	.	T	A	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=758;ExcessHet=0;FS=10.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.061;SOR=1.325	GT:AD:DP:GQ:PL	0/1:74,68:142:99:1918,0,1949	18	0	1	0
chr2	219223604	219223604	C	T	exonic	ATG9A	.	nonsynonymous SNV	ATG9A:NM_024085:exon9:c.G1580A:p.R527H,ATG9A:NM_001077198:exon10:c.G1580A:p.R527H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0191382245823	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365968995	2.748e-06	4.788e-06	2.732e-06	2.764e-06	2.706e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.706e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.45756	D	0.07	0.43721	T	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.048767	1	0.81001	D	2.4	0.69460	M	1.76	0.35031	T	-3.35	0.71519	D	0.707	0.71055	-0.8013	0.55068	T	0.221	0.58409	T	10	0.82116044	0.81319	D	0.019138	0.41421	T	0.427	0.73445	0.677	0.81496	0.498862405439	0.49522	0.6634147103236736	0.66278	2.32432958864	0.96653	0.874878168106	0.93258	D	0.516022	0.82983	D	0.202232	0.74101	D	0.0527154	0.73763	D	0.966844737529755	0.67714	D	0.90231	0.87031	D	0.4510958	0.64110	0.20675965	0.44904	0.4510958	0.64111	0.20675965	0.44903	-9.486	0.70772	D	.	.	0.464	0.64141	A	.;.;.;.;.	.;.;.;.;.	5.643026	0.92756	33	0.99724841545871978	0.82336	0.97311	0.73954	D	AEFDBCI	0.920082	0.89153	D	0.842071639418929	0.88651	9.659489	0.8514732716144	0.93102	11.82535	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.813000	0.84661	7.727000	0.67598	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.279	0.98503	546	0.72524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1972.33	33	chr2	219223604	.	C	T	1972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.172;DP=1067;ExcessHet=0;FS=1.182;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.567;SOR=0.81	GT:AD:DP:GQ:PL	0/1:96,81:177:99:1986,0,2365	18	0	1	0
chr2	227981848	227981848	C	G	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_030623:exon11:c.G4885C:p.V1629L,SPHKAP:NM_001142644:exon12:c.G4972C:p.V1658L	.	427	1087	7	1	0	9	0.00412277	.	.	.	708087	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0068	0.00459265	0.0081	0.0018	0.0133	0.0077	0.0014	0.0093	0.0067	0.0063	0.0079106	1223	154602	rs61755300	0.0087	0.0088	0.0089	0.0086	0.0109	0.0086	0.0086	0.0101	0.0098	0.0019	0.0109	0.0041	0.0098	0.0024	0.0094	0.0096	0.0073	0.0053	0.0066	0.0066	0.0063	0.0068	0.0099	0.0062	0.0061	0.0093	0.0090	0.0016	0	0.0080	0.0029	0.0098	0.0020	0.0204	0.0099	0.0109	0.0048	0.136	0.26085	T	0.291	0.21078	T	0.998	0.73220	D	0.985	0.76457	D	0.000801	0.41658	D	0.205096	0.987618	0.40620	D	2.155	0.60227	M	3.31	0.06291	T	-0.82	0.22508	N	0.448	0.48872	-1.1503	0.01016	T	0.021	0.08778	T	10	0.0047121346	0.00099	T	.	.	.	0.081	0.23632	0.392	0.41606	0.137902524267	0.13322	0.5567947757542651	0.55606	0.120133638722	0.13532	0.539786577225	0.44415	T	0.048169	0.27938	T	-0.388351	0.02756	T	-0.318939	0.42692	T	0.0196398308161504	0.00667	T	0.861114	0.55479	D	0.2723998	0.50309	0.14320236	0.34041	0.2723998	0.50309	0.14320236	0.34040	-2.656	0.07062	T	.	.	0.679	0.72099	P	.;.	.;.	3.974095	0.58372	24.0	0.99187957098449708	0.54877	0.93310	0.57875	D	AEFBI	0.589192	0.58617	D	0.447848538271241	0.64080	4.654816	0.523444404221448	0.69570	5.379431	0.0475069569526591	0.14733	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	3.581000	0.53658	4.873000	0.45587	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.992000	0.67800	0.0:0.9243:0.0:0.0757	12.460	0.55063	839	0.37672	A-kinase anchor 110kDa, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.010870	0.014620	0.050000	0.000000	0.009146	0.007576	0.02632	518.33	34	chr2	227981848	.	C	G	518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=676;ExcessHet=0;FS=1.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.439;SOR=0.406	GT:AD:DP:GQ:PL	0/1:28,18:46:99:532,0,731	18	0	1	0
chr2	232263211	232263211	T	G	exonic	DIS3L2	.	nonsynonymous SNV	DIS3L2:NM_001257281:exon13:c.T1430G:p.L477R,DIS3L2:NM_152383:exon13:c.T1430G:p.L477R	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	238679	Perlman_syndrome|not_provided|DIS3L2-related_disorder	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.510	0.0325097522616	.	.	8.333e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs201719374	5.609e-05	5.609e-05	5.581e-05	5.638e-05	6.835e-05	4.61e-05	4.236e-05	5.597e-05	5.11e-05	0	4.472e-05	0	0	0	0	6.835e-05	6.623e-05	0	0.0002	0.0002	0.0002	0.0003	7.347e-05	0.0002	0.0001	2.846e-05	1.858e-05	0	0.0296	0	0	0	0	0	7.347e-05	0.0005	0	0.007	0.59928	D	0.038	0.51421	D	0.899	0.49514	P	0.771	0.56890	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.825	0.47900	L	1.28	0.35960	T	-3.99	0.77798	D	0.86	0.85660	-0.8703	0.50506	T	0.157	0.48959	T	10	0.048276722	0.04257	T	0.03251	0.54314	D	0.510	0.78971	0.618	0.75232	0.397201501934	0.39331	0.8236105928229279	0.82318	1.00916610978	0.74694	0.629024028778	0.57006	T	0.175447	0.52503	T	0.0913757	0.63345	D	0.130147	0.78903	D	0.443510774349259	0.30558	T	0.946705	0.79569	D	0.846371	0.87068	0.6509974	0.79579	0.846371	0.87069	0.6509974	0.79580	-12.562	0.87480	D	0.5704966065535744	0.63770	0.164	0.36254	B	.;.;.;.	.;.;.;.	4.825740	0.78650	26.9	0.99665767629669255	0.78266	0.99037	0.90305	D	AEFBI	0.882117	0.80999	D	0.529285425112568	0.68830	5.271463	0.508669877540246	0.68573	5.238609	0.999999998863284	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	7.755000	0.84048	7.765000	0.68366	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:0.0:0.0:1.0	15.080	0.71774	783	0.47268	.;Ribonuclease II/R|Ribonuclease II/R;Ribonuclease II/R|Ribonuclease II/R;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1771.33	35	chr2	232263211	.	T	G	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.251;DP=803;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.706;SOR=0.602	GT:AD:DP:GQ:PL	0/1:97,81:178:99:1785,0,2830	18	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,64:146:99:.:.:2326,0,3190:.	6	3	10	0
chr2	233713320	233713320	T	A	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.T329A:p.F110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0244665117169	.	.	3.295e-05	0	0.0003	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs778430084	4.104e-06	1.71e-05	4.084e-06	4.125e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	2.519e-05	0	0	1.799e-06	0	3.478e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.238	0.17821	T	0.271	0.22291	T	0.0	0.02946	B	0.008	0.13708	B	0.826462	0.09139	N	0.925359	1	0.08975	N	1.7	0.43825	L	0.23	0.59717	T	-0.39	0.13611	N	0.169	0.17966	-0.9848	0.33879	T	0.147	0.47165	T	10	0.06668523	0.09181	T	0.024467	0.47458	T	0.073	0.21317	0.328	0.31196	0.268211541103	0.26431	0.19767057168218666	0.19684	0.187802654429	0.21102	.	.	.	0.075745	0.35252	T	-0.229837	0.16671	T	-0.567922	0.15641	T	0.0558336712419987	0.06496	T	0.306369	0.05889	T	0.085422255	0.19814	0.07413036	0.16185	0.085422255	0.19814	0.07413036	0.16185	-4.32	0.28457	T	.	.	0.124	0.25946	B	.	.	0.161103	0.05518	1.979	0.69850750129785322	0.09105	0.23473	0.22087	N	AEFBI	0.222167	0.34669	N	-1.09969918698491	0.06650	0.3066846	-1.1286106242579	0.07158	0.3471191	0.988442924938744	0.31518	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.87	0.979	0.18864	0.417000	0.20934	-0.220000	0.10772	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4802:0.0:0.0:0.5198	10.830	0.45856	481	0.77356	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	42.33	45	chr2	233713320	.	T	A	42.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.97;DP=1484;ExcessHet=0;FS=7.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.21;MQRankSum=-10.65;QD=0.23;ReadPosRankSum=-3.893;SOR=1.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,14:183:56:0|1:233713320_T_A:56,0,7038:233713320	18	0	1	0
chr2	233713330	233713330	A	T	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.A339T:p.R113S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00423569976087	.	.	4.119e-05	0	0.0003	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs28946883	4.788e-06	1.847e-05	4.084e-06	5.5e-06	6.71e-05	1.99e-06	1.28e-06	1.78e-05	8.93e-06	0	6.71e-05	0	2.519e-05	0	0	8.993e-07	0	2.319e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.454	0.08891	T	0.421	0.14075	T	0.0	0.02946	B	0.001	0.04355	B	0.480470	0.04978	N	1.266470	1	0.08975	N	-1.265	0.00749	N	0.12	0.61089	T	0.72	0.02099	N	0.09	0.06854	-1.0301	0.20422	T	0.065	0.26737	T	10	0.03095895	0.01226	T	0.004236	0.10216	T	0.055	0.15663	0.384	0.40298	0.305730143919	0.30178	0.34179644191172476	0.34092	0.183674440416	0.20659	.	.	.	0.039021	0.25043	T	-0.296341	0.09010	T	-0.66345	0.08035	T	0.149709612131119	0.17080	T	0.462454	0.13421	T	0.096403666	0.22707	0.029851688	0.01370	0.096403666	0.22706	0.029851688	0.01370	0.172	0.00293	T	0.062191001208913424	0.01826	0.268	0.50232	B	.	.	-1.537982	0.00273	0.004	0.41234177293518404	0.02962	0.00201	0.01154	N	AEFBI	0.062927	0.12127	N	-2.23613029333737	0.00064	0.002722399	-2.34088431692541	0.00054	0.002364388	0.999999999999994	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.87	-9.74	0.00425	-8.396000	0.00027	-8.448000	0.00968	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4922:0.2282:0.1087:0.1709	3.229	0.06343	481	0.77356	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	151.33	45	chr2	233713330	.	A	T	151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.845;DP=1492;ExcessHet=0;FS=3.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.77;MQRankSum=-11.25;QD=0.81;ReadPosRankSum=-3.607;SOR=1.147	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,17:186:99:0|1:233713320_T_A:165,0,6946:233713320	18	0	1	0
chr2	233713451	233713451	T	G	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.T460G:p.F154V	.	.	.	.	.	.	.	.	.	.	.	3929247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.00589153037459	.	.	0.0001	0.0002	0	0	0.0002	1.498e-05	0	0.0005	3.84e-05	1	26028	rs779404172	3.694e-05	6.225e-05	2.723e-05	4.676e-05	0.0003	2.894e-05	2.592e-05	0.0002	0.0002	5.975e-05	0	0.0004	0	1.872e-05	0	8.094e-06	4.969e-05	0.0003	9.847e-05	0.0001	0.0001	9.397e-05	0.0006	6.001e-05	4.876e-05	0.0002	9e-05	0.0002	0	0	0.0006	0	0	0	2.94e-05	0	0.0006	0.837	0.02832	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.043030	0.23780	N	0.490982	1	0.08975	N	-0.19	0.04217	N	0.72	0.50976	T	-2.68	0.57275	D	0.144	0.14480	-0.9919	0.32115	T	0.051	0.21883	T	10	0.028345376	0.00967	T	0.005892	0.15340	T	0.053	0.14996	0.534	0.64293	0.295623431141	0.29171	0.46507876356932326	0.46426	0.213945522374	0.23918	.	.	.	0.106073	0.41711	T	-0.321029	0.06813	T	-0.698913	0.05884	T	0.0150652959557829	0.00325	T	0.0571943	0.00415	T	0.06884388	0.15034	0.058217835	0.10720	0.06884388	0.15033	0.058217835	0.10720	-1.129	0.01154	T	0.11090072501328564	0.09423	0.197	0.41918	B	.	.	-1.817759	0.00151	0.002	0.34744115804164499	0.02142	0.00964	0.03693	N	AEFDBI	0.080252	0.16223	N	-1.76419391292462	0.00639	0.02754996	-1.78048369310609	0.00824	0.03678748	0.997093965649564	0.35269	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	-2.95	0.05229	-3.639000	0.00455	-20.000000	0.00162	-5.503000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3031:0.0:0.3489:0.3481	5.207	0.14618	482	0.77288	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	734.33	45	chr2	233713451	.	T	G	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.386;DP=1846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.44;MQRankSum=-12.01;QD=3.09;ReadPosRankSum=-2.818;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,33:238:99:0|1:233713451_T_G:748,0,8477:233713451	18	0	1	0
chr2	233713454	233713454	C	A	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.C463A:p.H155N	.	.	.	.	.	.	.	.	.	.	.	3929248	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.00602853514255	.	.	0.0001	0.0002	0	0	0.0002	1.498e-05	0	0.0005	3.84e-05	1	26028	rs776428029	3.489e-05	6.088e-05	2.586e-05	4.401e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0002	5.975e-05	0	0.0004	0	1.872e-05	0	8.094e-06	4.968e-05	0.0003	9.849e-05	0.0001	0.0001	9.396e-05	0.0006	6.002e-05	4.876e-05	0.0002	9.007e-05	0.0002	0	0	0.0006	0	0	0	2.94e-05	0	0.0006	0.326	0.13306	T	0.307	0.19908	T	0.0	0.02946	B	0.001	0.04355	B	0.749021	0.09715	N	0.894418	1	0.08975	N	-1.24	0.00794	N	0.12	0.61089	T	-0.24	0.10833	N	0.087	0.06454	-1.0378	0.17985	T	0.036	0.15465	T	10	0.017449945	0.00373	T	0.006029	0.15757	T	0.141	0.37795	0.298	0.26362	0.583991495718	0.58072	0.2824694483403466	0.28159	0.178770249441	0.20113	.	.	.	0.060426	0.31385	T	-0.495225	0.00608	T	-0.712464	0.05169	T	0.721589982509613	0.41779	D	0.010399	0.00057	T	0.059699588	0.12165	0.028128022	0.01021	0.059699588	0.12164	0.028128022	0.01021	-2.28	0.04446	T	0.07939510170312794	0.03904	0.102	0.18122	B	.	.	-2.174240	0.00068	0.001	0.51376495547005263	0.04552	0.00720	0.03034	N	AEFDBI	0.081951	0.16588	N	-2.24497363378118	0.00061	0.002604572	-2.29294536887662	0.00069	0.003026222	0.99999999946999	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	-9.76	0.00419	-9.556000	0.00014	-20.000000	0.00162	-2.731000	0.00202	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3175:0.1684:0.162:0.3521	0.349	0.00322	482	0.77288	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	698.33	45	chr2	233713454	.	C	A	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.831;DP=1852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.48;MQRankSum=-12.34;QD=2.89;ReadPosRankSum=-3.174;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,32:242:99:0|1:233713451_T_G:712,0,8637:233713451	18	0	1	0
chr2	233719022	233719022	C	T	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.C202T:p.H68Y	.	416	1093	13	0	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00622855362268	0.0018	0.00119808	0.0023	0.0006	0.0014	0	0.0002	0.0033	0.0044	0.0022	0.0021669	335	154602	rs45621441	0.0017	0.0017	0.0017	0.0017	0.0036	0.0016	0.0016	0.0024	0.0020	0.0003	0.0015	0.0305	2.519e-05	3.744e-05	0.0036	0.0011	0.0031	0.0019	0.0015	0.0015	0.0015	0.0015	0.0014	0.0014	0.0013	0.0010	0.0009	0.0005	0	0.0014	0.0285	0	0	0.0034	0.0012	0.0024	0.0012	0.674	0.04508	T	0.888	0.03152	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	0.999976	0.18612	N	0.265	0.09922	N	0.08	0.61559	T	-0.76	0.21215	N	0.187	0.20395	-1.0321	0.19777	T	0.076	0.30645	T	9	0.005566001	0.00123	T	0.006229	0.16347	T	0.034	0.08419	.	.	0.426670027402	0.42282	0.159423423863104	0.15863	0.0276588172285	0.02828	0.370199084282	0.20860	T	0.082155	0.36763	T	-0.520952	0.00435	T	-0.540102	0.18287	T	0.000902118436942808	0.00009	T	0.129787	0.01020	T	0.03557431	0.04212	0.0509173	0.08089	0.03557431	0.04211	0.0509173	0.08088	-6.102	0.47125	T	0.12361323523802124	0.12006	0.084	0.09868	B	.	.	0.194605	0.05804	2.244	0.76478777257343034	0.11484	0.02368	0.06741	N	AEFBI	0.467442	0.51467	N	-1.16494674392801	0.05538	0.2527413	-1.16145325985793	0.06565	0.3163944	0.0796339437512826	0.15823	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	1.2	0.20181	0.052000	0.14046	-5.306000	0.01768	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1493:0.5071:0.0:0.3436	4.260	0.10186	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.008621	0.015244	0.003788	0.02632	2634.33	33	chr2	233719022	.	C	T	2634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.804;DP=1425;ExcessHet=0;FS=1.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=1.02;QD=14.55;ReadPosRankSum=-0.602;SOR=0.586	GT:AD:DP:GQ:PL	0/1:90,91:181:99:2648,0,2595	18	0	1	0
chr2	233719178	233719178	G	A	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.G358A:p.V120I	.	425	1096	1	0	0	1	0.000455996	.	.	.	3622937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00799367958007	.	.	2.471e-05	0	8.639e-05	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs749190317	1.71e-05	2.668e-05	2.178e-05	1.238e-05	0.0002	1.174e-05	9.92e-06	8.863e-05	6.429e-05	0	0.0002	0	0	0	0.0002	1.259e-05	3.312e-05	0	1.314e-05	1.97e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.519	0.07283	T	0.677	0.06166	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.135	0.04517	N	0.11	0.61208	T	0.01	0.06868	N	0.049	0.02088	-1.0471	0.15217	T	0.080	0.31556	T	9	0.046560496	0.03863	T	0.007994	0.21188	T	0.060	0.17295	0.561	0.68093	0.170165803431	0.16609	0.15712744814220897	0.15633	0.023437749327	0.02374	0.234319731593	0.02303	T	0.055104	0.29912	T	-0.472371	0.00822	T	-0.690603	0.06354	T	0.0251601985325307	0.01294	T	0.237376	0.03328	T	0.030063393	0.02607	0.02659211	0.00757	0.030063393	0.02606	0.02659211	0.00757	-2.839	0.08548	T	0.07615060266089214	0.03453	0.081	0.08081	B	.	.	-2.408970	0.00039	0.001	0.29299164056202215	0.01547	0.00725	0.03048	N	AEFBI	0.339946	0.43692	N	-2.13360964197039	0.00108	0.004616884	-2.24216676080983	0.00090	0.003953686	0.999997209240374	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-8.32	0.00873	-2.248000	0.01271	-20.000000	0.00162	-0.892000	0.02379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3011:0.0:0.3124:0.3865	6.031	0.18906	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1625.33	33	chr2	233719178	.	G	A	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.615;DP=1375;ExcessHet=0;FS=5.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.84;MQRankSum=-6.883;QD=11.53;ReadPosRankSum=0.114;SOR=0.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,46:141:99:0|1:233719178_G_A:1639,0,3836:233719178	18	0	1	0
chr2	233719187	233719187	G	A	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.G367A:p.A123T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00240890350579	.	.	2.471e-05	0	8.637e-05	0	0	2.997e-05	0	0	3.84e-05	1	26028	rs747678615	1.3e-05	2.463e-05	1.361e-05	1.238e-05	0.0001	8.31e-06	6.7e-06	5.806e-05	3.952e-05	0	0.0001	0	0	0	0	8.993e-06	4.967e-05	0	1.314e-05	1.97e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.423	0.09746	T	0.454	0.12812	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.53	0.13656	N	0.26	0.59314	T	0.0	0.07008	N	0.064	0.03613	-1.0560	0.12776	T	0.058	0.24391	T	9	0.041697443	0.02849	T	0.002409	0.04729	T	0.037	0.09474	0.229	0.15556	0.440182696023	0.43640	0.21965528456699723	0.21881	0.0291907414725	0.03001	0.256625294685	0.04496	T	0.07342	0.34693	T	-0.294513	0.09188	T	-0.660824	0.08211	T	0.061531977597531	0.07408	T	0.350665	0.07816	T	0.022116518	0.00853	0.04436366	0.05732	0.022116518	0.00853	0.04436366	0.05732	-3.246	0.13051	T	0.0831328530398246	0.04459	0.083	0.09239	B	.	.	-3.304448	0.00005	0.001	0.63320035409905551	0.07193	0.00580	0.02616	N	AEFBI	0.277749	0.39219	N	-2.06282056722163	0.00154	0.006608958	-2.17784182881415	0.00125	0.005516307	0.999381576060591	0.39415	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-8.32	0.00873	-12.604000	0.00002	-20.000000	0.00162	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1791:0.1929:0.1506:0.4774	1.177	0.01725	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1539.33	33	chr2	233719187	.	G	A	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=1372;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.34;MQRankSum=-7.945;QD=10.84;ReadPosRankSum=0.099;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,44:142:99:0|1:233719178_G_A:1553,0,3983:233719178	18	0	1	0
chr2	233719188	233719188	C	T	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.C368T:p.A123V	.	426	1094	1	1	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00313279934008	.	.	4.942e-05	0	8.637e-05	0	0	5.994e-05	0	6.056e-05	3.84e-05	1	26028	rs771753301	1.437e-05	2.805e-05	1.497e-05	1.375e-05	0.0001	9.23e-06	7.84e-06	5.806e-05	3.953e-05	0	0.0001	0	0	0	0	9.892e-06	4.967e-05	1.159e-05	1.314e-05	1.97e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.694	0.04251	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.43	0.02865	N	0.35	0.58029	T	0.76	0.01978	N	0.072	0.04547	-1.0428	0.16473	T	0.054	0.22731	T	9	0.036700636	0.01982	T	0.003133	0.06815	T	0.043	0.11576	0.327	0.31034	0.436886369515	0.43307	0.1970430394127282	0.19621	0.0252821957818	0.02574	0.234658464789	0.02330	T	0.065414	0.32683	T	-0.444123	0.01223	T	-0.699881	0.05833	T	0.0188316577419937	0.00594	T	0.316668	0.06305	T	0.03039424	0.02696	0.030701973	0.01560	0.03039424	0.02695	0.030701973	0.01560	-2.917	0.09314	T	0.0629766063435898	0.01903	0.090	0.12512	B	.	.	-0.225657	0.02963	0.439	0.33790315577667701	0.02032	0.00158	0.00946	N	AEFBI	0.265977	0.38298	N	-1.74705354439909	0.00688	0.02969856	-1.72441870395808	0.01034	0.04636665	0.0630699447627013	0.15283	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	0.018	0.13434	-1.773000	0.01883	-3.451000	0.02777	-0.815000	0.03024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1267:0.1715:0.1309:0.5709	1.919	0.03102	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1539.33	33	chr2	233719188	.	C	T	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.709;DP=1372;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.28;MQRankSum=-8.139;QD=10.84;ReadPosRankSum=0.591;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,44:142:99:0|1:233719178_G_A:1553,0,3983:233719178	18	0	1	0
chr2	233719190	233719190	C	A	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.C370A:p.L124I	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0145272384415	.	.	2.471e-05	0	8.637e-05	0	0	2.997e-05	0	0	3.84e-05	1	26028	rs772886660	1.163e-05	2.463e-05	1.361e-05	9.626e-06	0.0001	7.08e-06	5.79e-06	5.806e-05	3.952e-05	0	0.0001	0	0	0	0	8.094e-06	3.312e-05	0	1.314e-05	1.97e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.629	0.05167	T	0.496	0.11335	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.155	0.29575	L	-0.08	0.63911	T	-0.29	0.11728	N	0.07	0.04307	-1.0141	0.25625	T	0.103	0.38044	T	9	0.07709813	0.12125	T	0.014527	0.34707	T	0.028	0.06331	0.358	0.36060	0.375861065471	0.37200	0.20625425025764918	0.20542	0.0265551599437	0.02714	0.285872220993	0.08324	T	0.079546	0.36154	T	-0.331452	0.06002	T	-0.631019	0.10338	T	0.0316834808246921	0.02255	T	0.228477	0.03050	T	0.05735409	0.11405	0.03374375	0.02321	0.05735409	0.11404	0.03374375	0.02321	-4.936	0.36137	T	0.14076138785930456	0.15779	0.100	0.17275	B	.	.	-0.402160	0.02204	0.220	0.25601526268997399	0.01188	0.04525	0.10155	N	AEFBI	0.668329	0.63614	D	-1.81224385664798	0.00516	0.02220719	-1.83348323786182	0.00658	0.02925937	0.130798124907093	0.17086	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-2.52	0.05978	-0.647000	0.05495	-1.483000	0.05337	-1.850000	0.00573	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.306:0.2616:0.4325	5.416	0.15672	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1572.33	33	chr2	233719190	.	C	A	1572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.69;DP=1376;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.35;MQRankSum=-8.151;QD=10.77;ReadPosRankSum=0.055;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,45:146:99:0|1:233719178_G_A:1586,0,4106:233719178	18	0	1	0
chr2	233719200	233719200	G	C	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.G380C:p.C127S	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00276604601753	0.0002	0.000199681	4.942e-05	0.0003	0	0	0	2.997e-05	0	6.056e-05	5.17e-05	8	154602	rs147555582	8.893e-05	0.0001	8.304e-05	9.489e-05	0.0004	7.622e-05	7.167e-05	0.0002	0.0002	0.0004	0.0002	0	0	0	0.0003	6.745e-05	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	6.506e-05	5.319e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	2.94e-05	0.0005	0.0002	0.458	0.08787	T	0.43	0.13713	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.375	0.00080	N	0.18	0.60361	T	2.13	0.00351	N	0.042	0.01498	-0.9662	0.37974	T	0.039	0.16763	T	9	0.051525354	0.05046	T	0.002766	0.05723	T	0.086	0.25016	0.378	0.39319	0.229924730088	0.22615	0.30732299820869136	0.30645	0.0279100400615	0.02864	0.301891744137	0.10683	T	0.058	0.30612	T	-0.536849	0.00350	T	-0.729488	0.04350	T	0.0291197220023201	0.01856	T	0.124488	0.00967	T	0.04500807	0.07292	0.12058462	0.29100	0.04500807	0.07292	0.12058462	0.29099	0.151	0.00300	T	0.02897933377865692	0.00065	0.074	0.05188	B	.	.	-1.134044	0.00601	0.015	0.50773097353549379	0.04443	0.00641	0.02803	N	AEFBI	0.253501	0.37299	N	-1.90982652785077	0.00328	0.01407816	-1.83596950972512	0.00651	0.02893624	0.318888580645218	0.19363	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-2.28	0.06438	-2.066000	0.01472	-2.163000	0.04120	-2.111000	0.00389	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4078:0.4566:0.1356	12.543	0.55530	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1773.33	33	chr2	233719200	.	G	C	1773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.71;DP=1388;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.51;MQRankSum=-7.763;QD=11.37;ReadPosRankSum=-2.267;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,51:156:99:0|1:233719178_G_A:1787,0,4176:233719178	18	0	1	0
chr2	240129931	240129931	G	A	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.C361T:p.R121W	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0028	0.00139776	0.0051	0.0012	0.0050	0	0.0073	0.0056	0.0112	0.0071	0.0047024	727	154602	rs115914450	0.0041	0.0041	0.0040	0.0042	0.0078	0.0040	0.0040	0.0073	0.0071	0.0007	0.0027	0.0030	7.557e-05	0.0072	0.0040	0.0040	0.0038	0.0078	0.0031	0.0031	0.0032	0.0030	0.0044	0.0028	0.0028	0.0039	0.0037	0.0008	0	0.0024	0.0043	0.0002	0.0063	0.0034	0.0043	0.0014	0.0044	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.63	0.00629	N	0.207	0.22998	-1.0490	0.14677	T	0.049	0.20868	T	7	0.00360775	0.00065	T	.	.	.	0.027	0.05988	.	.	0.0884992946249	0.08302	0.060819580912718274	0.06021	0.195389630327	0.21877	0.206911593676	0.00687	T	.	.	.	-0.671541	0.00054	T	-0.734091	0.04145	T	0.00930137150031257	0.00118	T	0.435556	0.11926	T	.	.	.	.	.	.	.	.	-5.393	0.40852	T	.	.	0.366	0.57573	A	.	.	-0.254570	0.02823	0.391	0.78456567122932019	0.12309	0.00329	0.01719	N	AEFBCI	0.032994	0.03832	N	-2.02558438502064	0.00186	0.007984023	-2.19083033208253	0.00117	0.005156783	0.999998989451334	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.572659	0.19721	0	0.714379	0.83352	0	.	.	1.54	-3.09	0.05006	-2.417000	0.01112	-0.583000	0.08366	-2.444000	0.00282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1797:0.1277:0.4403:0.2524	1.715	0.02724	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007078	0.005051	0.002725	0.005848	0.000000	0.008621	0.024540	0.003817	0.02632	3126.33	37	chr2	240129931	.	G	A	3126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.82;DP=927;ExcessHet=0;FS=4.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.261;SOR=0.486	GT:AD:DP:GQ:PL	0/1:133,119:252:99:3140,0,2974	18	0	1	0
chr2	240568650	240568650	C	T	exonic	RNPEPL1	.	nonsynonymous SNV	RNPEPL1:NM_018226:exon1:c.C64T:p.P22S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.313e-06	4.789e-06	4.35e-06	0	0.0002	3.9e-07	1.4e-07	.	.	0	0	0	0.0002	0	0	1.276e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29	0.06445	T	-6.53	0.91741	D	.	.	.	.	.	.	.	.	.	0.34651154	0.51604	T	.	.	.	.	.	.	.	.	.	0.4044165718094861	0.40357	.	.	0.779976844788	0.78924	T	0.10643	0.41776	T	.	.	.	.	.	.	.	.	.	0.460354	0.13329	T	0.09360842	0.21989	0.23512913	0.48748	0.09360842	0.21988	0.23512913	0.48747	-5.426	0.41169	T	.	.	0.096	0.15296	B	.	.	2.346611	0.30078	18.33	0.98223082288416985	0.39316	0.06123	0.12101	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999993136	0.74766	0.11394	0.02926	0	0.033551	0.00054	0	0.125351	0.03401	0	0.104772	0.03119	1	0.164824	0.28485	1.92	1.92	0.24912	0.669000	0.24823	1.926000	0.29741	0.368000	0.20244	0.005000	0.17040	0.990000	0.31317	0.833000	0.39279	0.0:1.0:0.0:0.0	9.451	0.37891	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.06	2	chr2	240568650	.	C	T	31.06	.	AC=2;AF=0.056;AN=36;DP=91;ExcessHet=0;FS=0;InbreedingCoeff=0.4408;MLEAC=1;MLEAF=0.028;MQ=60;QD=15.53;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	17	1	0	1
chr2	240935539	240935539	C	T	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon14:c.C2120T:p.A707V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs761142473	5.438e-05	7.456e-05	1.939e-05	9.194e-05	0.0012	4.371e-05	3.983e-05	0.0010	0.0009	0	0	0	0	0	0	0	0.0001	0.0012	1.314e-05	1.313e-05	0	2.69e-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	.	.	.	0.173	0.30143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.11626	-0.9768	0.35727	T	0.055	0.23186	T	6	0.074613184	0.11427	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.022431472784869202	0.02195	.	.	.	.	.	0.007746	0.07136	T	-0.511629	0.00491	T	-0.598052	0.12975	T	0.0226035825908184	0.00977	T	.	.	.	0.021017548	0.00684	0.06446892	0.12926	0.021017548	0.00684	0.06446892	0.12926	-4.083	0.25039	T	.	.	0.075	0.05360	B	.	.	-0.671474	0.01388	0.080	0.74557569486764563	0.10740	0.00772	0.03181	N	AEFBI	0.025195	0.01686	N	-0.892899404047256	0.11010	0.5290881	-1.06087053807356	0.08481	0.4172425	0.310628909818173	0.19283	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.07	-3.61	0.04264	-0.826000	0.04536	-2.701000	0.03452	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1468:0.1531:0.0:0.7001	6.385	0.20757	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1109.33	36	chr2	240935539	.	C	T	1109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.038;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.834;SOR=0.693	GT:AD:DP:GQ:PL	0/1:30,38:68:99:1123,0,830	18	0	1	0
chr2	241803822	241803822	C	A	exonic	GAL3ST2	.	nonsynonymous SNV	GAL3ST2:NM_022134:exon4:c.C853A:p.H285N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00331264291704	.	0.000199681	0.0008	0	0	0	0	0.0034	0	0	0.000414	64	154602	rs550417478	0.0025	0.0023	0.0025	0.0024	0.0027	0.0024	0.0024	0.0027	0.0026	0.0004	0.0010	0.0010	0	0.0060	0	0.0027	0.0017	0	0.0019	0.0019	0.0019	0.0019	0.0028	0.0017	0.0017	0.0025	0.0024	0.0006	0	0.0013	0.0012	0	0.0043	0	0.0028	0.0014	0	0.007	0.59928	D	0.016	0.60972	D	0.998	0.73220	D	0.96	0.70309	D	0.000004	0.62929	D	0.000000	0.976535	0.25368	N	3.46	0.92336	M	1.87	0.24085	T	-5.93	0.89029	D	0.582	0.60325	-0.8556	0.51577	T	0.184	0.53209	T	10	0.017413855	0.00371	T	0.003313	0.07359	T	0.140	0.37593	.	.	0.388653054685	0.38476	0.7189243869128571	0.71835	1.35702460636	0.84203	0.859146475792	0.90985	D	0.244861	0.61406	T	-0.392227	0.02603	T	-0.339548	0.40397	T	0.175163768142674	0.18924	T	0.863014	0.55864	D	0.91055506	0.92347	0.90017796	0.94988	0.91055506	0.92348	0.90017796	0.94989	-12.008	0.84891	D	0.9535990235067398	0.98370	0.553	0.66931	A	.	.	3.909195	0.56999	23.8	0.98292188295864824	0.39964	0.72089	0.35299	D	ALL	0.175455	0.30263	N	0.456445406331015	0.64569	4.714518	0.325236505867723	0.57027	3.867211	0.999999964915543	0.74766	0.437478	0.07067	0	0.166054	0.03914	2	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.52	3.63	0.40741	1.268000	0.32665	3.491000	0.38715	0.524000	0.24156	0.790000	0.29595	1.000000	0.68203	0.681000	0.33571	0.0:0.8345:0.0:0.1655	9.571	0.38594	964	0.07719	.	.	.	.	.	.	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	0.002252	0.000000	0.001587	0.003185	0.000000	0.000000	0.003289	0.000000	0.02632	1008.33	33	chr2	241803822	.	C	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.828;DP=746;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.251;SOR=0.741	GT:AD:DP:GQ:PL	0/1:66,40:106:99:1022,0,1807	18	0	1	0
chr3	4313174	4313174	A	G	exonic	SETMAR	.	nonsynonymous SNV	SETMAR:NM_001243723:exon2:c.A433G:p.K145E,SETMAR:NM_001276325:exon2:c.A433G:p.K145E,SETMAR:NM_006515:exon2:c.A433G:p.K145E	.	435	1083	3	1	0	5	0.00230309	.	.	.	2203111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.114256043569	.	.	4.956e-05	0	0	0	0	3.002e-05	0	0.0002	3.88e-05	6	154602	rs779189977	1.71e-05	1.71e-05	1.225e-05	2.2e-05	0.0014	1.174e-05	9.92e-06	0.0007	0.0005	0	0	0	0	0	0.0014	5.396e-06	3.312e-05	0.0001	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0002	0.007	0.68238	D	0.019	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.205	0.62170	M	-2.63	0.90083	D	-1.02	0.36980	N	0.407	0.44761	-0.3046	0.74856	T	0.619	0.86547	D	9	0.22900897	0.39819	T	0.114256	0.79304	D	0.346	0.66769	.	.	0.791053330979	0.78911	0.38218366357054334	0.38133	0.0369096761219	0.03911	0.308303982019	0.11651	T	0.038158	0.24739	T	-0.121799	0.32831	T	-0.153053	0.58973	T	0.116224763155459	0.14056	T	0.889911	0.83579	D	0.33849362	0.56159	0.2313799	0.48267	0.33849362	0.56159	0.2313799	0.48266	-10.224	0.75241	D	.	.	0.201	0.55876	B	.;.;.	.;.;.	2.956882	0.39368	20.9	0.99490197094641075	0.67403	0.69500	0.34212	D	AEFBI	0.145130	0.26827	N	-0.291865420866623	0.29461	1.633981	-0.254242135982768	0.29626	1.661276	0.784309030989033	0.23901	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.18	1.32	0.20897	0.112000	0.15312	0.329000	0.17264	0.756000	0.94297	0.779000	0.29461	0.743000	0.26496	0.693000	0.33928	0.3368:0.6631:0.0:0.0	16.098	0.80948	937	0.14592	SET domain|SET domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1567.33	34	chr3	4313174	.	A	G	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.276;DP=800;ExcessHet=0;FS=1.426;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.744;SOR=0.89	GT:AD:DP:GQ:PL	0/1:62,64:126:99:1581,0,1790	18	0	1	0
chr3	27297207	27297207	T	C	exonic	NEK10	.	nonsynonymous SNV	NEK10:NM_152534:exon15:c.A1202G:p.N401S,NEK10:NM_199347:exon15:c.A1202G:p.N401S	.	433	1052	34	3	0	40	0.0186567	.	.	.	698020	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0094	0.00359425	0.0088	0.0036	0.0071	0.0002	0.0006	0.0133	0.0101	0.0023	0.0079559	1230	154602	rs141057699	0.0095	0.0096	0.0095	0.0095	0.0363	0.0094	0.0093	0.0322	0.0307	0.0030	0.0090	0.0556	0.0002	0.0009	0.0363	0.0096	0.0135	0.0026	0.0077	0.0077	0.0084	0.0070	0.0097	0.0074	0.0072	0.0088	0.0086	0.0029	0	0.0097	0.0602	0.0006	0.0002	0.0238	0.0094	0.0161	0.0029	0.121	0.27783	T	0.029	0.57104	D	0.011	0.15914	B	0.014	0.16862	B	0.005918	0.32413	N	0.344209	0.955034	0.37906	D	1.78	0.46185	L	0.83	0.47815	T	-2.22	0.49846	N	0.348	0.38950	-1.0467	0.15332	T	0.084	0.32900	T	10	0.005595118	0.00124	T	.	.	.	0.082	0.23913	.	.	0.677678353351	0.67494	0.3220118445769102	0.32114	0.186626053331	0.20973	0.480120301247	0.36073	T	0.003156	0.02556	T	-0.573194	0.00212	T	-0.585099	0.14094	T	0.0215633066248969	0.00860	T	0.79872	0.44736	T	0.03760478	0.04853	0.10064199	0.24069	0.03760478	0.04852	0.10064199	0.24068	-8.166	0.65063	D	.	.	0.096	0.15251	B	.;.	.;.	2.527921	0.32681	19.11	0.99135401927465194	0.53383	0.93977	0.59744	D	AEFBHCI	0.718791	0.66988	D	-0.00275865169944812	0.41732	2.501382	0.182280641476564	0.48875	3.09781	0.999984651320607	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	5.45	5.45	0.79688	5.711000	0.68052	1.498000	0.26936	-0.690000	0.04136	1.000000	0.71638	0.973000	0.29867	0.551000	0.30197	0.0:0.0:0.0:1.0	15.800	0.78216	518	0.74548	.;.	.	.	.	.	.	Likely benign	0	0	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	0.031722	0.015152	0.057065	0.046784	0.000000	0.025862	0.009146	0.003788	0.02632	1257.33	37	chr3	27297207	.	T	C	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.164;DP=711;ExcessHet=0;FS=1.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.182;SOR=0.985	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1271,0,915	18	0	1	0
chr3	36484993	36484993	G	A	exonic	STAC	.	nonsynonymous SNV	STAC:NM_003149:exon4:c.G506A:p.R169H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	0.130297546564	7.7e-05	.	0.0001	0	0.0006	0	0	6.022e-05	0	0.0001	8.41e-05	13	154602	rs141427741	5.246e-05	5.609e-05	5.217e-05	5.275e-05	0.0005	4.296e-05	3.923e-05	0.0003	0.0003	3.034e-05	0.0005	0	7.778e-05	0	0	4.069e-05	3.341e-05	5.965e-05	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0002	8.14e-06	5.14e-06	.	.	2.414e-05	0	6.546e-05	0	0.0002	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.61	0.82254	D	-3.59	0.69236	D	0.858	0.85449	0.472	0.90148	D	0.706	0.89900	D	10	0.8127971	0.80547	D	0.130298	0.81244	D	0.745	0.91198	.	.	0.973440577398	0.97315	0.7018556303686895	0.70126	0.812905501583	0.66818	0.81127178669	0.83687	D	0.264907	0.63673	T	0.0366554	0.56605	T	0.171254	0.81485	D	0.703519761562347	0.40887	D	0.975802	0.91539	D	0.7367697	0.80108	0.62072617	0.77906	0.7367697	0.80109	0.62072617	0.77907	-9.372	0.70060	D	.	.	0.938	0.85713	P	.	.	6.139017	0.94649	34	0.99925168063808545	0.99042	0.98909	0.88484	D	AEFBI	0.892233	0.82897	D	0.908763230824967	0.92182	11.27881	0.902025890957601	0.95660	13.83877	0.999999866502651	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.66	5.66	0.87293	9.602000	0.97623	11.645000	0.93827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	18.916	0.92479	878	0.29785	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1133.33	36	chr3	36484993	.	G	A	1133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.501;DP=760;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.003;SOR=0.796	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1147,0,1605	18	0	1	0
chr3	37054509	37054509	G	A	exonic	LRRFIP2	.	nonsynonymous SNV	LRRFIP2:NM_001348311:exon13:c.C994T:p.R332W,LRRFIP2:NM_017724:exon13:c.C994T:p.R332W,LRRFIP2:NM_001134369:exon14:c.C1066T:p.R356W,LRRFIP2:NM_001348308:exon14:c.C1096T:p.R366W,LRRFIP2:NM_001348309:exon14:c.C1096T:p.R366W,LRRFIP2:NM_001348310:exon14:c.C1066T:p.R356W,LRRFIP2:NM_001348304:exon15:c.C1189T:p.R397W,LRRFIP2:NM_001348305:exon15:c.C1168T:p.R390W,LRRFIP2:NM_001348306:exon15:c.C1168T:p.R390W,LRRFIP2:NM_001348307:exon15:c.C1168T:p.R390W,LRRFIP2:NM_001348301:exon16:c.C1261T:p.R421W,LRRFIP2:NM_001348302:exon16:c.C1261T:p.R421W,LRRFIP2:NM_001348303:exon16:c.C1198T:p.R400W,LRRFIP2:NM_001348299:exon17:c.C1270T:p.R424W,LRRFIP2:NM_001348300:exon17:c.C1270T:p.R424W,LRRFIP2:NM_001282691:exon18:c.C1303T:p.R435W,LRRFIP2:NM_001348298:exon21:c.C1444T:p.R482W,LRRFIP2:NM_001348297:exon23:c.C1654T:p.R552W,LRRFIP2:NM_006309:exon27:c.C1957T:p.R653W	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.101082738309	0.0010	0.000199681	0.0007	0.0004	8.64e-05	0	0.0002	0.0011	0.0011	0.0002	0.0007503	116	154602	rs149817415	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0001	0.0002	0.0003	0	0.0003	0	0.0010	0.0007	0.0005	0.0009	0.0009	0.0010	0.0007	0.0016	0.0007	0.0007	0.0013	0.0012	0.0003	0	0.0001	0	0.0002	0.0004	0.0034	0.0016	0.0014	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.046962	1	0.81001	D	2.8	0.81625	M	-1.7	0.83072	D	-7.0	0.94729	D	0.949	0.98466	0.569	0.91494	D	0.720	0.90404	D	10	0.5233386	0.62768	D	0.101083	0.77376	D	0.645	0.86536	.	.	0.94844368393	0.94789	0.5872269579126616	0.58652	.	.	0.662067532539	0.61705	T	0.525929	0.83506	D	0.10572	0.64903	D	0.333531	0.89655	D	0.204763827304367	0.20676	T	0.998211	0.99160	D	0.80054486	0.83940	0.7337418	0.84265	0.80054486	0.83942	0.7337418	0.84266	-16.601	0.98530	D	.	.	0.844	0.83274	P	.;.;.;.;.	.;.;.;.;.	5.785222	0.93543	33	0.99923967003842185	0.98917	0.34959	0.25190	N	ALL	0.760030	0.69818	D	0.710946562022752	0.80351	7.274895	0.647847256227456	0.78450	6.87878	0.999999999942487	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.743671	0.96076	0	0.656636	0.63459	0	.	.	5.18	4.23	0.49319	1.724000	0.37685	8.282000	0.76904	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.7769:0.2231	15.169	0.72540	154	0.93967	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1176.33	34	chr3	37054509	.	G	A	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.964;DP=748;ExcessHet=0;FS=2.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.471;SOR=0.45	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1190,0,1595	18	0	1	0
chr3	39189421	39189421	C	T	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001198621:exon2:c.G25A:p.A9T,XIRP1:NM_194293:exon2:c.G25A:p.A9T	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00466215108462	7.7e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001488	23	154602	rs200072362	0.0002	0.0002	0.0002	0.0002	0.0053	0.0002	0.0002	0.0038	0.0033	0.0002	0.0003	0.0012	0	0	0.0053	0.0001	0.0004	2.381e-05	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0001	0.0002	0.0002	7.22e-05	0	0.0005	0.0012	0	0	0.0068	0.0003	0	0	0.087	0.32769	T	0.186	0.28860	T	0.094	0.25382	B	0.035	0.22741	B	0.236280	0.15810	U	0.613800	1	0.08975	N	1.185	0.30054	L	3.48	0.05130	T	-0.6	0.17834	N	0.149	0.15187	-0.9958	0.31082	T	0.015	0.06138	T	10	0.025814652	0.00765	T	0.004662	0.11566	T	0.027	0.05988	.	.	0.104622674875	0.10061	0.37259341877305424	0.37173	0.0839709123402	0.09469	0.315196096897	0.12693	T	0.088577	0.38189	T	-0.494385	0.00615	T	-0.64195	0.09528	T	0.0338719793051134	0.02616	T	0.627737	0.24333	T	0.027039435	0.01840	0.04280248	0.05182	0.027039435	0.01840	0.04280248	0.05182	-3.35	0.14391	T	.	.	0.071	0.09627	B	.;.	.;.	2.658426	0.34630	19.68	0.92364606829283957	0.21769	0.64400	0.32395	D	AEFDBCI	0.248055	0.36852	N	-0.699186007757726	0.16045	0.8140311	-0.680534631584193	0.17448	0.9277975	0.999974145309159	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.39	2.4	0.28568	1.795000	0.38418	1.665000	0.27922	-0.218000	0.08083	0.982000	0.35529	0.814000	0.27065	0.089000	0.17737	0.1998:0.6067:0.1936:0.0	6.937	0.23654	568	0.70638	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005051	0.002717	0.002924	0.000000	0.000000	0.006135	0.007576	0.02632	787.33	45	chr3	39189421	.	C	T	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.142;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.148;SOR=0.73	GT:AD:DP:GQ:PL	0/1:30,28:58:99:801,0,935	18	0	1	0
chr3	40487313	40487313	C	G	exonic	ZNF619	.	nonsynonymous SNV	ZNF619:NM_001145083:exon4:c.C671G:p.A224G,ZNF619:NM_001145093:exon5:c.C803G:p.A268G,ZNF619:NM_001145082:exon6:c.C923G:p.A308G,ZNF619:NM_001145094:exon6:c.C776G:p.A259G,ZNF619:NM_001363277:exon6:c.C629G:p.A210G,ZNF619:NM_173656:exon6:c.C755G:p.A252G	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00724181994539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.38633	T	0.061	0.49120	T	0.998	0.73220	D	0.965	0.71173	D	.	.	.	.	0.999985	0.18612	N	0.41	0.12415	N	1.26	0.36330	T	-2.41	0.57275	N	0.118	0.11912	-1.0475	0.15102	T	0.119	0.41735	T	9	0.20559764	0.36792	T	0.007242	0.19198	T	0.059	0.16972	0.563	0.68364	0.29527378943	0.29149	0.027645007409229674	0.02714	0.185115657917	0.20806	0.273412108421	0.06591	T	0.147121	0.48505	T	-0.224686	0.17359	T	-0.560523	0.16327	T	0.491989180838879	0.32337	T	0.292471	0.05369	T	0.11959427	0.28157	0.14658839	0.34723	0.11959427	0.28157	0.14658839	0.34722	-6.123	0.48317	T	.	.	0.170	0.37633	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.993875	0.13720	10.26	0.99394713630019782	0.62519	0.00389	0.01958	N	AEFBHCI	0.032946	0.03818	N	-0.366395971980335	0.26674	1.457582	-0.451594722885396	0.23504	1.282082	0.142967511696724	0.17307	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	2.64	1.61	0.22752	0.385000	0.20413	-2.347000	0.03869	0.449000	0.21268	0.000000	0.06391	0.000000	0.08366	0.375000	0.26223	0.0:0.5659:0.4341:0.0	7.725	0.27920	628	0.65206	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1549.33	33	chr3	40487313	.	C	G	1549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.174;DP=746;ExcessHet=0;FS=2.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.72;SOR=0.562	GT:AD:DP:GQ:PL	0/1:51,57:108:99:1563,0,1387	18	0	1	0
chr3	46446446	46446446	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon11:c.G1219A:p.V407M,LTF:NM_001321121:exon11:c.G1345A:p.V449M,LTF:NM_002343:exon11:c.G1351A:p.V451M,LTF:NM_001321122:exon14:c.G1312A:p.V438M	.	427	1036	57	2	0	61	0.0285982	.	.	.	708874	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.083	.	0.0072	0.00419329	0.0084	0.0022	0.0059	0	0.0006	0.0084	0.0110	0.0217	0.007846	1213	154602	rs61739313	0.0078	0.0078	0.0072	0.0084	0.0253	0.0077	0.0076	0.0220	0.0210	0.0009	0.0051	0.0172	7.56e-05	0.0007	0.0253	0.0072	0.0085	0.0221	0.0050	0.0050	0.0053	0.0048	0.0174	0.0047	0.0046	0.0144	0.0133	0.0013	0	0.0039	0.0190	0.0002	0.0007	0.0306	0.0068	0.0104	0.0174	0.034	0.46129	D	0.129	0.36101	T	0.791	0.67487	P	0.34	0.63213	B	0.000015	0.00162	N	6.968180	1	0.08975	N	1.725	0.44537	L	3.21	0.07125	T	-0.78	0.22944	N	0.166	0.17691	-0.9927	0.31906	T	0.023	0.09604	T	10	0.0039860904	0.00077	T	.	.	.	0.083	0.24192	.	.	0.126345400529	0.12197	0.34706130118152995	0.34620	0.124778172504	0.14054	0.258332192898	0.04694	T	0.083964	0.37173	T	-0.653136	0.00069	T	-0.694704	0.06119	T	0.0155953161609467	0.00356	T	0.146985	0.01214	T	0.14808123	0.33823	0.10696175	0.25742	0.14808123	0.33823	0.10696175	0.25742	-4.658	0.33246	T	.	.	0.112	0.28116	B	.;.;.;.	.;.;.;.	0.365685	0.07381	4.005	0.98318891806542186	0.40222	0.00740	0.03091	N	AEFDGBHI	0.038641	0.05498	N	-0.703131132027061	0.15934	0.8074205	-0.893101611508219	0.12256	0.6294228	0.999592495529945	0.40745	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	-5.27	0.02551	-1.816000	0.01814	-2.291000	0.03942	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.2332:0.2655:0.3335:0.1678	1.597	0.02505	422	0.81333	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-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	0.013595	0.000000	0.006793	0.017544	0.000000	0.017241	0.036585	0.015152	0.07895	3721.77	35	chr3	46446446	.	C	T	3721.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.01;DP=777;ExcessHet=0;FS=1.211;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0.224;SOR=0.695	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1388,0,1397	17	1	1	0
chr3	46676321	46676321	C	T	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon19:c.G2110A:p.G704R,ALS2CL:NM_147129:exon19:c.G2110A:p.G704R	.	422	1099	1	0	0	1	0.000454752	.	.	.	2337404	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0467636966519	.	0.000399361	0.0002	0	8.642e-05	0	0	3.001e-05	0	0.0013	0.0001746	27	154602	rs565114772	0.0001	0.0001	6.535e-05	0.0002	0.0013	9.941e-05	9.35e-05	0.0011	0.0010	0	2.236e-05	0	0	0	0.0007	3.417e-05	0.0002	0.0013	9.859e-05	0.0001	8.998e-05	0.0001	0.0019	6.008e-05	4.881e-05	0.0010	0.0007	4.82e-05	0	6.539e-05	0	0.0002	0	0	2.942e-05	0	0.0019	0.098	0.30800	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999983	0.58761	D	2.7	0.79018	M	1.57	0.29342	T	-4.7	0.79829	D	0.885	0.88577	-0.8167	0.54140	T	0.182	0.52965	T	10	0.2534304	0.42710	T	0.046764	0.62611	D	0.347	0.66863	0.489	0.57415	0.317667799068	0.31381	0.5775521865056367	0.57684	0.607010650221	0.55521	0.64257389307	0.58930	T	0.319884	0.69112	T	-0.0770493	0.40192	T	0.0760144	0.75311	D	0.440874129533768	0.30461	T	0.939106	0.77081	D	0.38150588	0.59425	0.34192067	0.59925	0.38150588	0.59425	0.34192067	0.59924	-9.256	0.69330	D	.	.	0.313	0.54761	B	.;.	.;.	4.770825	0.77233	26.7	0.99932549043374774	0.99439	0.98397	0.82359	D	AEFDBI	0.783796	0.71467	D	0.629178828234893	0.75027	6.234048	0.555565600921466	0.71786	5.708141	0.999999999995891	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.85	4.85	0.62375	6.638000	0.74166	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:1.0:0.0:0.0	15.499	0.75417	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	865.33	35	chr3	46676321	.	C	T	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=723;ExcessHet=0;FS=2.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=1.26;SOR=0.446	GT:AD:DP:GQ:PL	0/1:54,36:90:99:879,0,1340	18	0	1	0
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1864.33	39	chr3	46858411	.	C	T	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.871;SOR=0.637	GT:AD:DP:GQ:PL	0/1:64,74:138:99:1878,0,1566	18	0	1	0
chr3	47267256	47267256	G	A	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon5:c.C374T:p.T125I,KIF9:NM_001377475:exon5:c.C374T:p.T125I,KIF9:NM_022342:exon6:c.C599T:p.T200I,KIF9:NM_182902:exon6:c.C599T:p.T200I,KIF9:NM_001134878:exon7:c.C599T:p.T200I	.	432	1069	21	0	0	21	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0074	0.00419329	0.0099	0.0018	0.0032	0	0.0200	0.0132	0.0132	0.0071	0.0091849	1420	154602	rs115200348	0.0095	0.0097	0.0095	0.0096	0.0102	0.0094	0.0094	0.0100	0.0100	0.0011	0.0039	0.0098	2.52e-05	0.0194	0.0061	0.0102	0.0084	0.0065	0.0079	0.0079	0.0077	0.0081	0.0115	0.0075	0.0074	0.0108	0.0106	0.0018	0	0.0018	0.0118	0	0.0215	0	0.0115	0.0071	0.0064	0.003	0.68238	D	0.115	0.55341	T	0.969	0.56768	D	0.922	0.65739	D	0.000012	0.62929	D	0.110564	0.963501	0.41858	D	1.825	0.47900	L	-0.93	0.75215	T	-3.47	0.71397	D	0.452	0.51761	0.056	0.83360	D	0.472	0.79700	T	10	0.010240376	0.00229	T	.	.	.	0.315	0.63694	.	.	0.929514880557	0.92879	0.328074583812485	0.32720	0.677923367899	0.59857	0.668195366859	0.62580	T	0.488178	0.81393	T	-0.331267	0.06016	T	-0.236942	0.51097	T	0.0251898383779963	0.01298	T	0.927207	0.73169	D	0.8332084	0.86127	0.74378324	0.84855	0.8332084	0.86128	0.74378324	0.84856	-10.349	0.76126	D	.	.	0.530	0.65942	A	.;.;.;.;.	.;.;.;.;.	4.795080	0.77860	26.8	0.99483659758339715	0.67014	0.75811	0.37138	D	AEFDGBHCI	0.553565	0.56476	D	0.715830948533987	0.80669	7.346067	0.731403687661654	0.84763	8.38351	0.999999999978896	0.74766	0.495158	0.18159	0	0.616935	0.53198	0	0.547309	0.15389	0	0.695668	0.68540	0	.	.	5.93	5.93	0.95888	4.597000	0.60770	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	18.915	0.92471	14	0.98855	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain	.	.	.	.	rs115200348	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	895.33	34	chr3	47267256	.	G	A	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.303;DP=728;ExcessHet=0;FS=1.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.331;SOR=0.429	GT:AD:DP:GQ:PL	0/1:54,37:91:99:909,0,1452	18	0	1	0
chr3	47273580	47273580	C	T	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon4:c.G338A:p.R113Q,KIF9:NM_001377475:exon4:c.G338A:p.R113Q,KIF9:NM_022342:exon4:c.G338A:p.R113Q,KIF9:NM_182902:exon4:c.G338A:p.R113Q,KIF9:NM_001134878:exon5:c.G338A:p.R113Q	.	.	.	.	.	.	.	.	.	.	.	3695309	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.601	0.0925361781665	.	.	4.278e-05	0	0	0	0	1.525e-05	0	0.0003	3.23e-05	5	154602	rs1054567498	1.508e-05	1.573e-05	1.636e-05	1.378e-05	0.0003	9.87e-06	8.43e-06	6.105e-05	4.06e-05	0	0	0	0	0	0.0003	9.905e-06	0	0.0001	1.971e-05	1.97e-05	2.569e-05	1.344e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.997887	0.81001	D	2.345	0.67358	M	-0.89	0.74793	T	-3.99	0.73893	D	0.865	0.86297	0.179	0.85546	D	0.569	0.84368	D	10	0.72993267	0.74228	D	0.092536	0.75909	D	0.601	0.84237	0.562	0.68229	0.907176970148	0.90625	0.6433019630086328	0.64265	0.729428383131	0.62664	0.667129397392	0.62428	T	0.483798	0.81138	T	0.0444561	0.57627	T	0.0857607	0.75963	D	0.988714039325714	0.79012	D	0.966603	0.87805	D	0.9760761	0.98797	0.8914737	0.94371	0.9760761	0.98797	0.8914737	0.94371	-7.63	0.58520	D	.	.	0.302	0.69016	B	.;.;.;.;.	.;.;.;.;.	5.582169	0.92310	32	0.99955097278089389	0.99969	0.92960	0.56973	D	AEFGBCI	0.869017	0.78937	D	0.79815350995602	0.85989	8.744168	0.773488299162983	0.87895	9.383561	0.999999999964437	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.615948	0.41167	0	0.491896	0.07777	0	.	.	5.23	5.23	0.72570	6.209000	0.72107	5.890000	0.50749	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.971	0.89036	16	0.98727	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	763.33	34	chr3	47273580	.	C	T	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=674;ExcessHet=0;FS=1.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.895;SOR=0.982	GT:AD:DP:GQ:PL	0/1:27,29:56:99:777,0,580	18	0	1	0
chr3	47409265	47409265	A	G	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon16:c.A1367G:p.Q456R,PTPN23:NM_015466:exon17:c.A1745G:p.Q582R	.	.	.	.	.	.	.	.	.	.	YES	1415719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0223776899713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437170371	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0001	1.048e-05	8.75e-06	3.982e-05	2.373e-05	0.0001	0	0	0	0	0	1.619e-05	0	1.159e-05	1.97e-05	1.97e-05	0	4.033e-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	0.134	0.26300	T	0.11	0.37310	T	0.145	0.27759	B	0.157	0.34536	B	0.000004	0.62929	D	0.063428	0.999956	0.52396	D	2.175	0.60977	M	1.47	0.31987	T	-1.66	0.39692	N	0.446	0.48411	-1.0619	0.11288	T	0.076	0.30584	T	10	0.25646794	0.43051	T	0.022378	0.45263	T	0.089	0.25827	0.308	0.27967	0.67016000163	0.66737	0.2976545890195886	0.29678	0.47165718075	0.46430	0.679619789124	0.64214	T	0.096155	0.39767	T	-0.152078	0.27988	T	-0.456226	0.27012	T	0.610404431819916	0.36817	D	0.819518	0.47762	T	0.41884774	0.62014	0.3008661	0.56120	0.41884774	0.62015	0.3008661	0.56119	-6.72	0.51961	T	.	.	0.219	0.44948	B	.	.	3.694726	0.52664	23.3	0.99084716632144532	0.52051	0.90883	0.52441	D	AEFDBCI	0.719401	0.67029	D	-0.0440163500506851	0.39870	2.358326	0.0482742667086695	0.41988	2.531951	0.999994165948977	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.22	3.06	0.34374	7.199000	0.77351	11.085000	0.85821	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9057:0.0:0.0943:0.0	8.602	0.32913	20	0.98525	ALIX V-shaped 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	.	.	.	.	.	.	.	.	0.02632	1025.33	35	chr3	47409265	.	A	G	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.279;DP=768;ExcessHet=0;FS=1.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.18;SOR=0.883	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1039,0,1460	18	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	51.69	33	chr3	48174283	.	C	G	51.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.121;DP=1411;ExcessHet=0.3672;FS=127.421;InbreedingCoeff=-0.0885;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.679;SOR=10.408	GT:AD:DP:GQ:PL	0/1:92,31:123:9:9,0,1922	16	0	3	0
chr3	48525645	48525645	C	T	exonic	PFKFB4	.	nonsynonymous SNV	PFKFB4:NM_001317135:exon10:c.G991A:p.E331K,PFKFB4:NM_001317136:exon10:c.G979A:p.E327K,PFKFB4:NM_004567:exon10:c.G1012A:p.E338K,PFKFB4:NM_001317134:exon11:c.G1099A:p.E367K,PFKFB4:NM_001317138:exon11:c.G439A:p.E147K	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.126551623674	7.7e-05	0.000199681	0.0002	0	0.0005	0	0	0.0003	0	0	0.000194	30	154602	rs201998835	9.354e-05	9.508e-05	9.994e-05	8.708e-05	0.0007	8.068e-05	7.559e-05	0.0005	0.0005	0	0.0007	0	5.155e-05	1.878e-05	0.0003	7.857e-05	0.0002	2.335e-05	0.0001	0.0001	0.0001	0.0002	0.0003	9.151e-05	7.706e-05	0.0001	0.0001	0	0	0.0003	0	0	0	0	0.0002	0	0.0002	0.069	0.35537	T	0.082	0.41573	T	0.538	0.90584	P	0.105	0.77976	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.67	0.72458	T	-2.85	0.60029	D	0.812	0.80767	-0.0506	0.81193	T	0.455	0.78761	T	10	0.53915477	0.63619	D	0.126552	0.80823	D	0.568	0.82403	.	.	0.860512727691	0.85916	0.6550757154885551	0.65443	1.41615846991	0.85522	0.76645219326	0.76893	T	0.318134	0.68953	T	-0.108948	0.34943	T	-0.00853343	0.69779	D	0.23373547202155	0.22128	T	0.941006	0.77964	D	0.3886688	0.59937	0.3698356	0.62246	0.3886688	0.59938	0.3698356	0.62245	-8.562	0.64838	D	.	.	0.522	0.65555	A	.;.	.;.	4.595229	0.72728	25.9	0.99883688660276593	0.95892	0.94297	0.60718	D	AEFDGBCI	0.946768	0.95658	D	0.425073373295504	0.62804	4.502571	0.450683320560184	0.64760	4.738829	0.999999999278062	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.1	4.1	0.47196	7.840000	0.85068	7.638000	0.63056	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:1.0:0.0:0.0	14.207	0.65284	16	0.98727	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	897.33	33	chr3	48525645	.	C	T	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=702;ExcessHet=0;FS=1.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.857;SOR=0.941	GT:AD:DP:GQ:PL	0/1:46,34:80:99:911,0,1101	18	0	1	0
chr3	51863174	51863174	A	G	exonic	IQCF2	.	nonsynonymous SNV	IQCF2:NM_203424:exon3:c.A299G:p.E100G	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.012487695855	7.7e-05	.	0.0001	0	0.0003	0	0	0.0002	0	0	0.00011	17	154602	rs372504942	7.046e-05	7.046e-05	7.214e-05	6.875e-05	0.0007	5.913e-05	5.522e-05	0.0005	0.0004	0	0.0007	0	0	1.872e-05	0.0007	5.396e-05	0.0001	0	9.857e-05	9.851e-05	2.57e-05	0.0002	0.0003	6.007e-05	4.88e-05	9.047e-05	7.012e-05	0	0	0.0003	0	0	0	0	0.0002	0	0	0.043	0.41364	D	0.014	0.62352	D	0.992	0.64738	D	0.952	0.69102	D	0.016255	0.28027	N	0.257228	0.998349	0.22212	N	3.245	0.89746	M	1.7	0.26885	T	-5.46	0.85541	D	0.427	0.46649	-1.0163	0.24916	T	0.135	0.44933	T	10	0.2428062	0.41484	T	0.012488	0.31109	T	0.120	0.33359	.	.	0.197625483188	0.19356	0.17282140100280122	0.17202	0.950846693469	0.72616	0.387574642897	0.23327	T	0.163197	0.50816	T	-0.345775	0.04997	T	-0.356188	0.38493	T	0.751821935176849	0.43386	D	0.50295	0.15803	T	0.18000539	0.39099	0.35249388	0.60826	0.18000539	0.39099	0.35249388	0.60826	-7.685	0.58903	D	.	.	0.366	0.57585	A	.	.	3.577123	0.50415	22.9	0.99818368682342296	0.90150	0.68992	0.34013	D	AEFDBI	0.090880	0.18412	N	0.284830955384272	0.55380	3.702018	0.174610462084896	0.48459	3.061612	0.00159472813996148	0.08681	0.487112	0.14033	0	0.547309	0.14657	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	4.95	2.45	0.28953	0.652000	0.24573	3.430000	0.38309	0.756000	0.94297	0.951000	0.33123	0.148000	0.23153	0.871000	0.41478	0.6558:0.0:0.0:0.3442	7.558	0.27002	237	0.90758	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1602.33	33	chr3	51863174	.	A	G	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.871;DP=743;ExcessHet=0;FS=4.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.131;SOR=0.812	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1616,0,1545	18	0	1	0
chr3	52372236	52372236	A	G	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon43:c.A6676G:p.I2226V	.	416	1093	13	0	0	13	0.00591178	.	.	.	453247	not_provided|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	MedGen:C3661900|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0062	0.00199681	0.0059	0.0010	0.0014	0	0.0076	0.0079	0.0079	0.0059	0.0057632	891	154602	rs112505934	0.0071	0.0071	0.0071	0.0072	0.0079	0.0070	0.0070	0.0078	0.0077	0.0011	0.0024	0.0062	0	0.0063	0.0033	0.0079	0.0073	0.0058	0.0053	0.0053	0.0053	0.0053	0.0083	0.0050	0.0049	0.0077	0.0075	0.0012	0.0429	0.0027	0.0061	0.0002	0.0057	0	0.0083	0.0014	0.0046	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.000781	0.41888	U	0.000000	0.976029	0.39239	D	.	.	.	2.33	0.16492	T	0.15	0.05310	N	0.274	0.31027	-0.9585	0.39461	T	0.008	0.02842	T	10	0.011133552	0.00245	T	.	.	.	0.017	0.02790	.	.	0.132336055621	0.12781	0.28984887749406174	0.28897	0.10357624358	0.11719	0.292885124683	0.09345	T	.	.	.	-0.603439	0.00139	T	-0.63261	0.10218	T	3.5456228943076e-05	0.00000	T	0.820118	0.47860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01491	B	.	.	0.837653	0.12093	8.645	0.68054314344574773	0.08541	0.67016	0.33281	D	AEFDGBI	0.141527	0.26373	N	-0.847241378410047	0.12117	0.5887538	-0.647784528518466	0.18273	0.9754083	0.64026108865765	0.22047	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.59522	0.37078	0	.	.	4.36	1.88	0.24630	0.910000	0.28193	0.019000	0.13561	-0.113000	0.14837	0.997000	0.40164	0.000000	0.08366	0.834000	0.39329	0.7456:0.1671:0.0873:0.0	5.862	0.18004	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.005435	0.002924	0.050000	0.000000	0.003049	0.003788	0.02632	1282.33	33	chr3	52372236	.	A	G	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.984;DP=746;ExcessHet=0;FS=1.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.438;SOR=0.9	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1296,0,1627	18	0	1	0
chr3	64686893	64686893	G	A	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon2:c.C191T:p.P64L,ADAMTS9:NM_182920:exon2:c.C191T:p.P64L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.244955641045	7.7e-05	.	8.239e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs372962935	2.052e-06	2.052e-06	1.361e-06	2.75e-06	5.974e-05	5.5e-07	1.5e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	0	0	1.159e-05	3.286e-05	3.283e-05	1.285e-05	5.38e-05	9.649e-05	1.261e-05	7.98e-06	3.249e-05	1.914e-05	9.649e-05	0	0	0	0	0	0	0	0.0005	0	0.002	0.72154	D	0.018	0.65728	D	0.912	0.50421	P	0.929	0.66367	D	0.000064	0.52346	D	0.077012	1	0.81001	D	2.47	0.71715	M	0.35	0.60973	T	-5.51	0.89833	D	0.386	0.53181	-0.1104	0.79858	T	0.402	0.75281	T	10	0.5721989	0.65381	D	0.244956	0.88865	D	0.419	0.72855	.	.	0.830279919501	0.82867	0.7992612556104227	0.79879	0.494804857025	0.48035	0.49212411046	0.37734	T	0.329264	0.69958	T	-0.0452333	0.45167	T	-0.121223	0.61702	T	0.990538001060486	0.80756	D	0.917608	0.70392	D	0.7359055	0.80059	0.8414702	0.90935	0.7359055	0.80060	0.8414702	0.90936	-2.867	0.09746	T	.	.	0.195	0.54448	B	.;.;.	.;.;.	4.637162	0.73792	26.0	0.99871780261267817	0.94902	0.93133	0.57412	D	ALL	0.908050	0.86285	D	0.660907573302638	0.77075	6.605661	0.609197921467456	0.75609	6.340537	0.999999999994086	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.372554	0.06265	0	.	.	5.02	4.13	0.47661	6.788000	0.74893	8.570000	0.77602	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8575:0.1425	15.138	0.72261	911	0.21964	Peptidase M12B, propeptide;.;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1563.33	41	chr3	64686893	.	G	A	1563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.011;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.63;SOR=0.703	GT:AD:DP:GQ:PL	0/1:42,57:99:99:1577,0,1143	18	0	1	0
chr3	73065058	73065058	C	G	exonic	PPP4R2	.	nonsynonymous SNV	PPP4R2:NM_001318025:exon7:c.C674G:p.S225C,PPP4R2:NM_001318027:exon7:c.C332G:p.S111C,PPP4R2:NM_001318026:exon8:c.C731G:p.S244C,PPP4R2:NM_174907:exon8:c.C845G:p.S282C	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0088	0.00279553	0.0057	0.0013	0.0038	0	0.0048	0.0087	0.0055	0.0010	0.0062224	962	154602	rs34742137	0.0095	0.0095	0.0098	0.0092	0.0114	0.0094	0.0093	0.0112	0.0111	0.0018	0.0050	0.0050	0	0.0043	0.0061	0.0114	0.0084	0.0010	0.0065	0.0065	0.0071	0.0059	0.0105	0.0062	0.0061	0.0099	0.0096	0.0020	0	0.0063	0.0046	0	0.0050	0.0034	0.0105	0.0123	0.0006	0.011	0.55530	D	0.023	0.57104	D	0.953	0.54283	P	0.41	0.44785	B	0.663385	0.10407	N	0.868319	0.97674	0.39303	D	2.24	0.63355	M	1.33	0.35031	T	-2.31	0.51319	N	0.366	0.40765	-0.9858	0.33639	T	0.124	0.42736	T	10	0.0063696206	0.00144	T	.	.	.	0.116	0.32463	.	.	0.220282294035	0.21616	0.12454862336063753	0.12380	0.15539898781	0.17539	0.314911603928	0.12649	T	0.035405	0.23707	T	-0.480222	0.00737	T	-0.450258	0.27668	T	0.0263717637470888	0.01456	T	0.871513	0.57764	D	0.118089296	0.27830	0.10126789	0.24239	0.118089296	0.27830	0.10126789	0.24238	-5.647	0.43219	T	.	.	0.078	0.06990	B	.	.	3.696601	0.52696	23.3	0.98977046283346182	0.49660	0.98221	0.80666	D	AEFBI	0.546245	0.56042	D	0.441738497107681	0.63737	4.613136	0.437927567504437	0.63944	4.638804	0.999971094996064	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	3.599000	0.53795	4.910000	0.45943	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.789000	0.37270	0.0:0.8489:0.1511:0.0	14.043	0.64211	842	0.36989	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.005051	0.004087	0.005848	0.000000	0.000000	0.012346	0.003788	0.02632	1224.33	33	chr3	73065058	.	C	G	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=740;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.463;SOR=0.596	GT:AD:DP:GQ:PL	0/1:75,48:123:99:1238,0,1951	18	0	1	0
chr3	74285307	74285307	G	A	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon19:c.C2702T:p.T901M	.	437	1079	6	0	0	6	0.00277264	0.0161	0.18	.	698288	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	0.0080	0.00359425	0.0095	0.0013	0.0024	0	0.0125	0.0143	0.0149	0.0031	0.0089197	1379	154602	rs141921900	0.0098	0.0097	0.0100	0.0095	0.0113	0.0096	0.0096	0.0111	0.0110	0.0011	0.0030	0.0017	0.0001	0.0131	0.0034	0.0113	0.0085	0.0030	0.0080	0.0081	0.0082	0.0079	0.0128	0.0077	0.0075	0.0121	0.0118	0.0015	0.0396	0.0053	0.0020	0	0.0138	0.0034	0.0128	0.0057	0.0015	0.034	0.44029	D	0.09	0.40267	T	0.004	0.12183	B	0.015	0.17295	B	0.001587	0.38554	N	0.290390	0.73933	0.33805	D	0.46	0.12951	N	0.56	0.54540	T	-1.36	0.33798	N	0.206	0.22870	-0.9641	0.38389	T	0.066	0.27364	T	10	0.004834354	0.00103	T	.	.	.	0.090	0.26093	.	.	0.494232246516	0.49056	0.38907339473874325	0.38822	0.24617174184	0.27154	0.451213866472	0.32110	T	0.123059	0.44716	T	-0.619003	0.00112	T	-0.650255	0.08936	T	0.018050021024756	0.00529	T	0.541746	0.18406	T	0.029654887	0.02495	0.059998732	0.11353	0.029654887	0.02494	0.059998732	0.11353	-5.225	0.39195	T	.	.	0.123	0.25753	B	.	.	3.708067	0.52926	23.3	0.98739609107162862	0.45482	0.94718	0.62091	D	AEFI	0.512489	0.54068	D	-0.535684375750678	0.20935	1.107315	-0.410120203248802	0.24700	1.354076	0.00135713156360695	0.08470	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	5.4	2.15	0.26590	3.830000	0.55469	4.270000	0.42842	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.787000	0.37188	0.2572:0.0:0.7428:0.0	10.829	0.45853	933	0.16026	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1814.33	34	chr3	74285307	.	G	A	1814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=750;ExcessHet=0;FS=0.78;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.483;SOR=0.836	GT:AD:DP:GQ:PL	0/1:56,66:122:99:1828,0,1209	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,49:92:99:0|1:75730450_C_T:1928,0,1658:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,8:66:99:0|1:75730611_G_T:138,0,2384:75730611	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,35:145:99:.:.:580,0,4196:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,53:148:99:0|1:75736891_G_A:1858,0,3671:75736891	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,48:148:99:0|1:75736891_G_A:1714,0,4054:75736891	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,50:150:99:0|1:75736891_G_A:1792,0,4048:75736891	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:91,37:128:99:786,0,2612	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:87,44:131:99:1150,0,2344	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,70:147:99:.:.:1652,0,2500:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,70:145:99:0|1:75737092_C_T:2673,0,2938:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,70:145:99:0|1:75737092_C_T:2673,0,2939:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,69:144:99:0|1:75737092_C_T:2672,0,2942:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,65:134:99:0|1:75737092_C_T:2522,0,2702:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,43:105:99:0|1:75737092_C_T:1619,0,2443:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,9:68:99:0|1:75737228_T_C:185,0,2424:75737228	7	0	12	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,101:184:99:.:.:3843,0,3127:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,87:167:99:0|1:75737586_A_T:3406,0,3091:75737586	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,95:175:99:0|1:75737586_A_T:3747,0,3074:75737586	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,96:173:99:0|1:75737586_A_T:3798,0,2945:75737586	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,99:180:99:0|1:75737586_A_T:3912,0,3104:75737586	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,103:191:99:0|1:75737586_A_T:4107,0,2714:75737586	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,81:160:99:1|0:75737791_C_A:3132,0,2896:75737791	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,51:136:99:0|1:75737881_T_C:1672,0,3355:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,39:127:99:0|1:75737881_T_C:1370,0,3537:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,38:125:99:0|1:75737881_T_C:1334,0,3519:75737881	1	0	18	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4037.35	240	chr3	75737947	.	CCT	C	4037.35	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.249;DP=3312;ExcessHet=2.0135;FS=24.339;InbreedingCoeff=-0.1874;MLEAC=6;MLEAF=0.158;MQ=57.02;MQRankSum=-11;QD=4.19;ReadPosRankSum=0.508;SOR=2.248	GT:AD:DP:GQ:PL	0/1:108,22:130:99:558,0,4373	13	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,19:155:99:0|1:75737994_T_C:388,0,5633:75737994	7	0	12	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,15:178:99:0|1:75737994_T_C:139,0,6799:75737994	8	0	10	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:101,18:119:99:168,0,3118	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:62,25:87:99:429,0,1925	1	0	18	0
chr3	98132708	98132708	A	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.11delA:p.N5Mfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472079441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.578e-06	6.568e-06	0	1.347e-05	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3344.29	41	chr3	98132707	.	GA	G	3344.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.287;DP=1738;ExcessHet=0;FS=2.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.46;MQRankSum=-0.273;QD=14.42;ReadPosRankSum=-1.29;SOR=0.871	GT:AD:DP:GQ:PL	0/1:114,118:232:99:3358,0,3110	18	0	1	0
chr3	98132879	98132879	T	C	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.T182C:p.L61S	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00213903153302	0.0002	.	0.0002	0	8.72e-05	0	0	0.0004	0	0.0001	7.68e-05	2	26028	rs374301921	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	2.989e-05	0.0003	0.0005	0	0	0.0014	0.0002	0.0004	0.0001	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.815e-05	0	0.0008	0.0003	0	0	0	0.0003	0.0014	0	0.048	0.40068	D	0.042	0.50226	D	0.447	0.36006	B	0.128	0.32786	B	0.195283	0.16740	N	0.440664	0.999953	0.19072	N	1.195	0.30194	L	7.21	0.00433	T	-4.18	0.75537	D	0.451	0.48872	-0.8839	0.49448	T	0.001	0.00408	T	10	0.05077949	0.04862	T	0.002139	0.03989	T	0.129	0.35316	.	.	0.389904358541	0.38601	0.2927559015561627	0.29188	0.380299228091	0.39395	0.236000180244	0.02442	T	0.008446	0.07757	T	-0.361617	0.04039	T	-0.451238	0.27561	T	0.105943620204926	0.12998	T	0.690631	0.30012	T	0.3050177	0.53351	0.32545573	0.58461	0.3050177	0.53351	0.32545573	0.58460	-6.408	0.49572	T	.	.	0.388	0.58913	A	.;.	.;.	2.687056	0.35067	19.80	0.98003586155743949	0.37498	0.22861	0.21887	N	AEFI	0.119934	0.23385	N	-0.395874126374815	0.25616	1.391831	-0.410365089986413	0.24693	1.353641	2.96292211136304E-4	0.06406	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	2.210000	0.42455	.	.	0.430000	0.20916	0.029000	0.20367	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.0:1.0	10.101	0.41677	773	0.48803	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	0.000595	0.000000	0.000000	0.000000	0.000000	0.000000	0.003731	0.000000	0.02632	5134.33	41	chr3	98132879	.	T	C	5134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.573;DP=1886;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.47;MQRankSum=-0.447;QD=13.66;ReadPosRankSum=-0.419;SOR=0.673	GT:AD:DP:GQ:PL	0/1:189,187:376:99:5148,0,5264	18	0	1	0
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	4817.21	59	chr3	98133460	.	C	G	4817.21	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,28:107:99:0|1:98133458_C_T:235,0,1579:98133458	10	0	2	7
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,12:33:81:0|1:100775333_T_C:81,0,365:100775333	7	0	11	1
chr3	111991537	111991537	G	C	exonic	ABHD10	.	nonsynonymous SNV	ABHD10:NM_018394:exon5:c.G737C:p.G246A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.701	0.0677710946143	.	.	2.471e-05	0	0	0	0	1.498e-05	0.0011	6.057e-05	1.94e-05	3	154602	rs764283828	8.893e-06	8.893e-06	4.084e-06	1.375e-05	0.0001	4.96e-06	3.82e-06	5.396e-05	4.042e-05	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	0.997	0.70673	D	0.942	0.67772	D	0.000000	0.84330	D	0.049329	1	0.81001	D	3.535	0.93119	H	-0.19	0.65931	T	-5.33	0.84601	D	0.766	0.76388	-0.0133	0.81979	T	0.484	0.80326	T	10	0.92542255	0.91891	D	0.067771	0.70262	D	0.701	0.89238	0.789	0.91142	0.918932036857	0.91811	0.8904646685795368	0.89016	0.668106992026	0.59278	0.546248674393	0.45327	T	0.101005	0.40734	T	0.220924	0.75864	D	0.282219	0.87242	D	0.939499497413635	0.61100	D	0.925008	0.72455	D	0.70747375	0.78469	0.67825055	0.81101	0.70747375	0.78470	0.67825055	0.81102	-8.297	0.63075	D	.	.	0.535	0.66155	A	.	.	4.909695	0.80764	27.4	0.99843256463361774	0.92316	0.99388	0.95384	D	AEFGBI	0.927805	0.91105	D	0.939921391153297	0.93574	12.13005	0.907351619291369	0.95885	14.07002	0.999999999942758	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.516000	0.97042	11.872000	0.98601	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.591	0.91167	585	0.69300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2780.33	41	chr3	111991537	.	G	C	2780.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.523;DP=1081;ExcessHet=0;FS=0.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.334;SOR=0.766	GT:AD:DP:GQ:PL	0/1:144,114:258:99:2794,0,4088	18	0	1	0
chr3	113326478	113326478	G	A	exonic	CFAP44	.	nonsynonymous SNV	CFAP44:NM_001164496:exon28:c.C4483T:p.R1495W	.	443	1073	6	0	0	6	0.0027881	.	.	.	708471	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.168	.	0.0096	0.00599042	0.0052	0.0244	0.0032	0	0	0.0055	0	0.0014	0.0015459	239	154602	rs58191991	0.0040	0.0038	0.0041	0.0039	0.0236	0.0039	0.0039	0.0222	0.0216	0.0236	0.0033	0.0024	0.0002	0.0018	0.0118	0.0038	0.0051	0.0013	0.0087	0.0087	0.0087	0.0087	0.0214	0.0083	0.0081	0.0203	0.0198	0.0214	0	0.0066	0.0026	0	0.0009	0.0170	0.0042	0.0076	0.0015	0.003	0.68238	D	0.004	0.74150	D	.	.	.	.	.	.	0.000063	0.52346	D	0.128211	0.520857	0.31570	N	.	.	.	0.87	0.46412	T	-3.84	0.72240	D	0.222	0.24883	-0.8335	0.53074	T	0.117	0.41297	T	10	0.0041759014	0.00083	T	.	.	.	0.168	0.42943	.	.	0.42324137094	0.41940	0.2361723734705648	0.23532	0.248791913693	0.27447	0.492648363113	0.37806	T	.	.	.	-0.451679	0.01104	T	-0.405325	0.32764	T	0.024550257594143	0.01215	T	0.89781	0.64256	D	0.28719503	0.51731	0.21179019	0.45622	0.28719503	0.51731	0.21179019	0.45621	-9.976	0.73768	D	.	.	0.441	0.61730	A	.	.	3.670169	0.52182	23.2	0.99920535513453057	0.98721	0.41382	0.26645	N	AEFBI	0.308458	0.41504	N	0.0191386978474371	0.42725	2.579787	-0.0244139690839011	0.38615	2.27761	0.0463244745015267	0.14686	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.2	4.3	0.50540	1.822000	0.38690	3.679000	0.39461	-0.154000	0.11915	0.212000	0.24446	1.000000	0.68203	0.398000	0.26737	0.0836:0.0:0.7554:0.161	8.910	0.34705	527	0.73864	.	.	.	.	.	.	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	0.021040	0.005319	0.035088	0.039130	0.000000	0.038462	0.000000	0.027027	0.02632	634.33	35	chr3	113326478	.	G	A	634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.429;DP=736;ExcessHet=0;FS=4.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.921;SOR=0.307	GT:AD:DP:GQ:PL	0/1:38,28:66:99:648,0,983	18	0	1	0
chr3	113445346	113445346	A	T	exonic	SPICE1	.	nonsynonymous SNV	SPICE1:NM_001331078:exon18:c.T2529A:p.N843K,SPICE1:NM_001331079:exon18:c.T2571A:p.N857K,SPICE1:NM_144718:exon18:c.T2529A:p.N843K	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0059	0.00379393	0.0015	0.0171	0.0004	0	0	7.573e-05	0.0011	0	0.0013971	216	154602	rs58193594	0.0005	0.0005	0.0006	0.0004	0.0184	0.0005	0.0005	0.0172	0.0167	0.0184	0.0008	3.833e-05	0	0	0.0010	2.16e-05	0.0015	3.485e-05	0.0049	0.0049	0.0048	0.0050	0.0171	0.0046	0.0045	0.0161	0.0157	0.0171	0	0.0017	0	0	0	0	5.882e-05	0.0028	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.094	0.25382	B	0.027	0.21085	B	0.000675	0.42516	D	0.235755	0.883657	0.28005	N	1.24	0.30952	L	1.72	0.26588	T	0.71	0.02130	N	0.157	0.16308	-1.0022	0.29284	T	0.014	0.05369	T	10	0.0048015714	0.00102	T	.	.	.	0.037	0.09474	0.254	0.19378	0.16115917748	0.15686	0.06939992689784065	0.06877	0.107562860731	0.12137	0.597671151161	0.52576	T	0.001105	0.00619	T	-0.648244	0.00074	T	-0.689654	0.06409	T	0.00731825224196647	0.00084	T	0.642236	0.25428	T	0.028683865	0.02245	0.02848957	0.01090	0.028683865	0.02244	0.02848957	0.01090	-2.737	0.07619	T	.	.	0.14	0.30686	B	.	.	0.736367	0.11056	7.710	0.77576701534733394	0.11934	0.48106	0.28132	N	AEFGBI	0.079256	0.16006	N	-0.610629007612493	0.18625	0.9684189	-0.466138427739817	0.23093	1.257587	2.62888508910871E-4	0.06244	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	-0.143	0.12787	0.778000	0.26393	-0.135000	0.11577	-0.093000	0.16093	0.999000	0.42656	0.005000	0.19230	0.840000	0.39645	0.5352:0.0:0.2685:0.1963	3.398	0.06889	196	0.92420	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000514	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1377.33	34	chr3	113445346	.	A	T	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=797;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.108;SOR=0.92	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1391,0,1359	18	0	1	0
chr3	114380262	114380262	T	C	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon3:c.A154G:p.T52A,ZBTB20:NM_001348800:exon10:c.A154G:p.T52A,ZBTB20:NM_001348803:exon12:c.A154G:p.T52A	Primrose syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	733700	not_specified|not_provided|ZBTB20-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0090	0.00738818	0.0028	0.0281	0.0033	0	0	0	0.0093	0	0.0007827	121	154602	rs72950611	0.0007	0.0007	0.0008	0.0006	0.0264	0.0007	0.0006	0.0250	0.0244	0.0264	0.0011	3.973e-05	0	0	0.0009	9.269e-06	0.0011	3.787e-05	0.0073	0.0073	0.0075	0.0070	0.0254	0.0069	0.0068	0.0241	0.0236	0.0254	0	0.0024	0	0	0	0	0	0.0062	0.0004	0.02	0.49613	D	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.171312	0.17366	U	0.379291	1	0.81001	D	0	0.06538	N	3.1	0.08283	T	-0.25	0.11008	N	0.153	0.15749	-0.9567	0.39789	T	0.004	0.01365	T	10	0.0036848187	0.00068	T	.	.	.	0.076	0.22200	.	.	0.220282294035	0.21616	0.40076885888774166	0.39991	1.12507142131	0.78425	0.540225744247	0.44477	T	0.067597	0.33242	T	-0.602352	0.00141	T	-0.616384	0.11471	T	0.0200465232308112	0.00705	T	0.534647	0.17878	T	0.06364207	0.13422	0.06395894	0.12747	0.06875876	0.15006	0.06203821	0.12075	-3.309	0.13853	T	.	.	0.118	0.24123	B	.	.	1.718955	0.21882	15.39	0.96852974030653172	0.31350	0.66917	0.33246	D	ALL	0.084206	0.17064	N	-0.231077734935121	0.31865	1.791104	-0.00725712988480354	0.39385	2.334479	0.999999945043605	0.74766	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.67	4.5	0.54382	0.825000	0.27047	0.198000	0.15820	0.665000	0.62972	1.000000	0.71638	0.991000	0.31484	1.000000	0.97212	0.116:0.0721:0.1337:0.6781	4.312	0.10420	797	0.45241	.	.	.	.	.	.	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	962.33	33	chr3	114380262	.	T	C	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=708;ExcessHet=0;FS=2.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-2.199;SOR=0.428	GT:AD:DP:GQ:PL	0/1:40,42:82:99:976,0,918	18	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:79,30:114:62:62,0,1814	4	0	13	2
chr3	122001864	122001864	C	T	exonic	ILDR1	.	nonsynonymous SNV	ILDR1:NM_001199799:exon4:c.G380A:p.R127Q,ILDR1:NM_175924:exon4:c.G380A:p.R127Q	Deafness, autosomal recessive 42, Autosomal recessive	.	.	.	.	.	.	.	0.9998	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.736e-06	1.362e-06	4.128e-06	3.48e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.48e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.037	0.54934	D	0.993	0.65571	D	0.865	0.61524	P	0.001452	0.38980	N	0.221552	0.999261	0.81001	D	1.04	0.26193	L	1.7	0.26885	T	-0.59	0.19085	N	0.48	0.57775	-1.1357	0.01528	T	0.087	0.33634	T	10	0.36406344	0.52961	T	0.00787	0.20877	T	0.123	0.34020	0.359	0.36222	0.488548280593	0.48485	0.4573916619636289	0.45657	0.294646407871	0.31881	0.624006927013	0.56295	T	0.003927	0.03333	T	-0.0751721	0.40498	T	-0.345756	0.39690	T	0.7914759516716	0.45786	D	0.924008	0.72230	D	0.109993525	0.26001	0.051294178	0.08225	0.109993525	0.26001	0.051294178	0.08225	-5.258	0.39526	T	.	.	0.118	0.30791	B	.;.;.	.;.;.	5.990462	0.94278	34	0.99943386608542462	0.99848	0.84228	0.43311	D	AEFDBI	0.365734	0.45380	N	0.494618438247657	0.66773	4.993915	0.508224570359585	0.68544	5.234543	0.999764258389036	0.42728	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.663205	0.64265	0	.	.	5.14	5.14	0.70008	2.361000	0.43814	6.008000	0.52598	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.912000	0.44740	0.0:0.9084:0.0:0.0916	9.795	0.39898	425	0.81160	.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	571.33	37	chr3	122001864	.	C	T	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.071;SOR=0.713	GT:AD:DP:GQ:PL	0/1:24,20:44:99:585,0,673	18	0	1	0
chr3	124796776	124796776	G	C	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.C846G:p.S282R,ITGB5:NM_001354764:exon10:c.C981G:p.S327R,ITGB5:NM_001354765:exon10:c.C981G:p.S327R,ITGB5:NM_002213:exon10:c.C1305G:p.S435R	.	.	.	.	.	.	.	.	.	.	.	2227924	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.0371585842553	0.0008	0.000399361	0.0001	0.0012	8.694e-05	0	0	0	0.0012	0	0.0001294	20	154602	rs141196770	3.356e-05	3.352e-05	3.814e-05	2.892e-05	0.0010	2.569e-05	2.314e-05	0.0007	0.0006	0.0010	0.0001	0	0	0	0.0002	1.8e-06	0.0001	0	0.0004	0.0004	0.0005	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.487	0.11656	T	0.25	0.31189	B	0.202	0.36942	B	0.107278	0.19578	N	0.575030	1	0.08975	N	-0.245	0.03879	N	-3.04	0.92357	D	-1.16	0.29727	N	0.258	0.29197	-0.5566	0.66534	T	0.438	0.77739	T	10	0.016452432	0.00347	T	0.037159	0.57442	D	0.176	0.44373	0.456	0.52102	0.983145603634	0.98295	0.52662235661895	0.52586	0.28871146839	0.31282	0.269775986671	0.06112	T	0.433412	0.78086	T	-0.294446	0.09193	T	-0.246168	0.50195	T	0.0221775784257982	0.00928	T	0.49475	0.15376	T	0.027617028	0.01978	0.041906316	0.04870	0.027617028	0.01978	0.041906316	0.04870	-3.393	0.14963	T	.	.	0.112	0.31532	B	.;.	.;.	1.298071	0.16994	12.89	0.98231530405293055	0.39396	0.18286	0.20197	N	AEFDBHCI	0.289425	0.40107	N	-0.803739948952158	0.13215	0.6494229	-0.751988647720356	0.15673	0.8254845	0.999999624828541	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.11	3.28	0.36691	0.068000	0.14398	2.758000	0.34584	-0.153000	0.12021	0.001000	0.13787	0.984000	0.30665	0.444000	0.27761	0.142:0.1235:0.6072:0.1273	4.500	0.11266	878	0.29785	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA 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	.	.	.	.	.	.	.	.	0.02632	830.33	59	chr3	124796776	.	G	C	830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.394;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.108;SOR=0.713	GT:AD:DP:GQ:PL	0/1:28,33:61:99:844,0,731	18	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,13:82:38:.:.:38,0,1601:.	3	0	16	0
chr3	129428450	129428450	C	G	exonic	EFCAB12	.	nonsynonymous SNV	EFCAB12:NM_207307:exon1:c.G39C:p.L13F	.	432	1087	3	0	0	3	0.00137804	.	.	.	2747142	Autism	Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00228224964611	8e-05	0.000599042	0.0003	0	0	0	0	0	0	0.0020	0.0002005	31	154602	rs370961897	0.0001	0.0001	7.502e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	0	4.527e-05	0	2.524e-05	0	0.0005	1.711e-05	0.0002	0.0017	9.189e-05	9.187e-05	3.854e-05	0.0001	0.0019	5.522e-05	4.36e-05	0.0010	0.0007	2.405e-05	0	6.531e-05	0	0	0	0	2.94e-05	0.0005	0.0019	0.15	0.24661	T	0.229	0.25210	T	0.815	0.45525	P	0.235	0.38432	B	0.059399	0.02121	N	2.308720	1	0.08975	N	0.895	0.22405	L	2.38	0.15843	T	-0.67	0.19297	N	0.119	0.10911	-1.0238	0.22476	T	0.034	0.14464	T	10	0.007913053	0.00180	T	0.002282	0.04369	T	0.054	0.15330	.	.	0.136095386433	0.13204	0.07453405773748568	0.07389	0.15491243362	0.17493	0.260771751404	0.04983	T	0.004292	0.03699	T	-0.588059	0.00172	T	-0.64211	0.09516	T	0.0446557412442209	0.04539	T	0.471653	0.14010	T	0.09396653	0.22081	0.09225217	0.21731	0.09396653	0.22080	0.09225217	0.21731	-4.871	0.35407	T	.	.	0.080	0.08368	B	.;.	.;.	2.066600	0.26282	17.06	0.70981573759761241	0.09475	0.60647	0.31255	D	ALL	0.118034	0.23097	N	-0.449034908322672	0.23772	1.278993	-0.535376430125765	0.21195	1.14545	0.999999999981504	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.53	3.53	0.39533	0.378000	0.20298	0.174000	0.15553	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.612000	0.31691	0.0:1.0:0.0:0.0	10.854	0.45995	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2983.33	34	chr3	129428450	.	C	G	2983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.671;DP=868;ExcessHet=0;FS=0.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.205;SOR=0.709	GT:AD:DP:GQ:PL	0/1:105,120:225:99:2997,0,2627	18	0	1	0
chr3	129560431	129560431	G	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon31:c.C5032A:p.L1678M	.	409	1105	8	0	0	8	0.00360685	.	.	.	720149	not_provided|PLXND1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.082	.	.	0.00199681	0.0015	0	0	0	0	8.035e-05	0	0.0103	0.0012031	186	154602	rs200252007	0.0006	0.0006	0.0004	0.0009	0.0094	0.0006	0.0006	0.0089	0.0087	2.995e-05	0	0	2.521e-05	0	0.0021	2.797e-05	0.0007	0.0094	0.0002	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0070	0.173	0.22573	T	0.171	0.30339	T	0.998	0.73220	D	0.977	0.73820	D	0.000402	0.44736	D	0.090405	0.99973	0.48635	D	1.445	0.36358	L	2.7	0.12162	T	-0.23	0.10656	N	0.53	0.55886	-1.1273	0.01916	T	0.077	0.30676	T	10	0.015358686	0.00322	T	.	.	.	0.109	0.30843	0.404	0.43573	0.403154071476	0.39927	0.23408618568868378	0.23323	1.59034253558	0.88517	0.57325220108	0.49137	T	0.135491	0.46734	T	-0.482775	0.00713	T	-0.458287	0.26785	T	0.0586171622835817	0.06948	T	0.830517	0.49623	T	0.10721294	0.25350	0.081668586	0.18579	0.10721294	0.25350	0.081668586	0.18579	-5.925	0.45647	T	.	.	0.104	0.18910	B	.	.	3.790264	0.54550	23.5	0.99334023082782341	0.59895	0.97888	0.77885	D	AEFDBI	0.739431	0.68399	D	0.240604195838506	0.53176	3.487708	0.186416695521506	0.49101	3.117522	0.999999694555698	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.85	3.94	0.44807	3.460000	0.52793	3.992000	0.40997	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0862:0.0:0.9138:0.0	12.263	0.53977	517	0.74620	Plexin, cytoplasmic RasGAP 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	0.003027	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	151.33	34	chr3	129560431	.	G	T	151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=625;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=2.44;SOR=0.941	GT:AD:DP:GQ:PL	0/1:24,7:31:99:165,0,631	18	0	1	0
chr3	132722196	132722198	CTG	-	exonic	NPHP3	.	nonframeshift deletion	NPHP3:NM_153240:exon1:c.158_160del:p.A53del	Meckel syndrome 7, Autosomal recessive;Nephronophthisis 3, Autosomal recessive;Renal-hepatic-pancreatic dysplasia 1, Autosomal recessive	8	1511	3	0	0	3	0.000991736	.	.	.	493749	Retinal_dystrophy|NPHP3-related_Meckel-like_syndrome|Renal-hepatic-pancreatic_dysplasia_1|Nephronophthisis_3|not_provided|Nephronophthisis	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0009966,MedGen:C2673885,OMIM:267010,Orphanet:3032|MONDO:MONDO:0008833,MedGen:C3715199,OMIM:208540|MONDO:MONDO:0011456,MedGen:C1858392,OMIM:604387,Orphanet:655|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	4.931e-05	0	0.0002	2.59e-05	4	154602	rs766573820	3.173e-05	3.01e-05	3.065e-05	3.283e-05	0.0004	2.391e-05	2.125e-05	8.129e-05	6.315e-05	0	3.221e-05	0	0	0	0.0004	2.62e-05	1.776e-05	0.0001	2.631e-05	2.627e-05	2.572e-05	2.694e-05	0.0002	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.943e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	889.29	33	chr3	132722195	.	CCTG	C	889.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=692;ExcessHet=0;FS=11.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-2.563;SOR=1.521	GT:AD:DP:GQ:PL	0/1:42,25:67:99:903,0,1688	18	0	1	0
chr3	136003140	136003140	G	A	exonic	PPP2R3A	.	nonsynonymous SNV	PPP2R3A:NM_002718:exon2:c.G1642A:p.G548S	.	435	1083	4	0	0	4	0.00184332	.	.	.	3215379	PPP2R3A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.00646324843911	0.0002	0.00139776	0.0010	0.0001	0	0.0008	0	4.513e-05	0.0022	0.0063	0.0008021	124	154602	rs371563412	0.0004	0.0004	0.0002	0.0006	0.0070	0.0004	0.0004	0.0065	0.0063	0	2.238e-05	0	0.0002	0	0.0002	7.195e-06	0.0004	0.0070	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	2.408e-05	0	0	0	0.0002	0	0	7.351e-05	0.0005	0.0077	0.14	0.25664	T	1.0	0.01155	T	0.007	0.14184	B	0.002	0.06944	B	0.093765	0.02480	N	1.753360	1	0.08975	N	1.155	0.29575	L	3.45	0.05311	T	-0.15	0.09297	N	0.044	0.01658	-1.0025	0.29197	T	0.013	0.05321	T	10	0.004806608	0.00102	T	0.006463	0.17014	T	0.068	0.19811	.	.	0.043077524339	0.03247	0.08855444432182104	0.08788	0.061124321464	0.06801	0.235332250595	0.02386	T	0.012548	0.11008	T	-0.637233	0.00087	T	-0.68495	0.06686	T	0.0148463926823302	0.00313	T	0.645335	0.25688	T	0.06539899	0.13973	0.069887035	0.14781	0.06539899	0.13973	0.069887035	0.14780	-1.888	0.02785	T	.	.	0.068	0.02670	B	.	.	0.962341	0.13387	9.895	0.82802106238431117	0.14382	0.05955	0.11913	N	AEFBI	0.074118	0.14845	N	-0.697817529940127	0.16084	0.8163413	-0.58161675757536	0.19973	1.073999	0.514873713333222	0.21048	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.52	4.64	0.57399	2.045000	0.40873	3.275000	0.37188	0.590000	0.31872	0.200000	0.24308	1.000000	0.68203	0.379000	0.26312	0.1871:0.0:0.8129:0.0	8.228	0.30739	304	0.87780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1895.33	41	chr3	136003140	.	G	A	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=1172;ExcessHet=0;FS=2.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.14;SOR=0.603	GT:AD:DP:GQ:PL	0/1:92,70:162:99:1909,0,2238	18	0	1	0
chr3	142499704	142499704	T	C	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon30:c.A5111G:p.D1704G,ATR:NM_001184:exon31:c.A5303G:p.D1768G	Seckel syndrome 1, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	989293	Inborn_genetic_diseases|Seckel_syndrome_1|Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0173343863745	.	.	4.119e-05	0	8.64e-05	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs763130593	2.189e-05	2.189e-05	2.042e-05	2.338e-05	0.0005	1.584e-05	1.356e-05	0.0001	7.541e-05	2.987e-05	4.472e-05	0	0	0	0.0005	1.529e-05	8.28e-05	4.637e-05	1.97e-05	1.97e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.243	0.17526	T	0.194	0.28120	T	0.109	0.26142	B	0.031	0.21939	B	0.000437	0.44522	D	0.190522	0.929982	0.36943	D	0.975	0.24501	L	3.97	0.03326	T	-1.33	0.33197	N	0.299	0.33796	-0.8920	0.48758	T	0.010	0.03765	T	10	0.14567864	0.27629	T	0.017334	0.38985	T	0.072	0.21020	0.537	0.64730	0.398365109743	0.39450	0.3462730884819536	0.34541	0.921030021075	0.71453	0.442907273769	0.30975	T	0.080926	0.36478	T	-0.320093	0.06889	T	-0.505886	0.21739	T	0.165563836693764	0.18273	T	0.874613	0.58533	D	0.26537517	0.49606	0.14023457	0.33434	0.26537517	0.49606	0.14023457	0.33434	-3.109	0.11399	T	.	.	0.076	0.05756	B	.	.	4.086414	0.60831	24.3	0.97447105666973366	0.34012	0.94204	0.60429	D	AEFBI	0.463168	0.51220	N	-0.133859294723242	0.35924	2.069704	0.035198456149123	0.41363	2.483686	0.997381040500076	0.35561	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	4.031000	0.56978	7.915000	0.74225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:0.3088:0.6912	10.491	0.43938	379	0.83778	PIK-related kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1350.33	33	chr3	142499704	.	T	C	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.083;DP=742;ExcessHet=0;FS=3.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.433;SOR=1.076	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1364,0,1418	18	0	1	0
chr3	146454096	146454096	G	C	exonic	PLSCR2	.	nonsynonymous SNV	PLSCR2:NM_001199979:exon5:c.C596G:p.T199R,PLSCR2:NM_020359:exon6:c.C389G:p.T130R,PLSCR2:NM_001199978:exon7:c.C608G:p.T203R	.	440	1077	5	0	0	5	0.00231589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0028	0.00179712	0.0036	0.0013	0.0111	0	0.0011	0.0040	0.0033	0.0010	0.0036287	561	154602	rs141636818	0.0049	0.0049	0.0049	0.0048	0.0099	0.0048	0.0047	0.0092	0.0089	0.0006	0.0099	0.0015	0	0.0012	0.0016	0.0056	0.0041	0.0010	0.0034	0.0034	0.0038	0.0030	0.0065	0.0031	0.0030	0.0054	0.0051	0.0011	0	0.0065	0.0020	0	0.0011	0	0.0050	0.0043	0.0006	0.013	0.53900	D	0.018	0.59732	D	.	.	.	.	.	.	0.062518	0.22093	U	0.161832	0.729056	0.33699	D	0.345	0.11182	N	2.15	0.19311	T	-1.17	0.29933	N	0.254	0.30574	-0.9952	0.31245	T	0.028	0.12147	T	10	0.006890893	0.00156	T	.	.	.	0.089	0.25827	.	.	0.225215365344	0.22153	0.47201870392917633	0.47120	0.271476130198	0.29669	0.345931947231	0.17321	T	0.02228	0.17204	T	-0.554188	0.00275	T	-0.559434	0.16430	T	0.0232514970083528	0.01053	T	0.666633	0.32360	T	0.20730224	0.42931	0.21042201	0.45428	0.20730224	0.42931	0.21042201	0.45427	-3.929	0.22738	T	.	.	0.123	0.27732	B	.;.;.;.;.	.;.;.;.;.	1.855932	0.23579	16.07	0.94667745912501455	0.25290	0.97962	0.78461	D	AEFI	0.644355	0.62064	D	-0.560573041755487	0.20153	1.060337	-0.492498746229914	0.22359	1.214074	0.999965506094033	0.48965	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	3.57	3.57	0.40014	4.580000	0.60654	0.739000	0.21146	-0.120000	0.14102	1.000000	0.71638	0.001000	0.17328	0.011000	0.09372	0.0:0.0:1.0:0.0	15.712	0.77402	911	0.21964	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2309.33	35	chr3	146454096	.	G	C	2309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.13;DP=796;ExcessHet=0;FS=3.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.56;SOR=0.464	GT:AD:DP:GQ:PL	0/1:78,100:178:99:2323,0,1869	18	0	1	0
chr3	151438358	151438358	G	A	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001178145:exon2:c.C140T:p.P47L,IGSF10:NM_001178146:exon2:c.C140T:p.P47L,IGSF10:NM_001385061:exon7:c.C6203T:p.P2068L,IGSF10:NM_001385060:exon8:c.C6203T:p.P2068L,IGSF10:NM_178822:exon8:c.C6203T:p.P2068L,IGSF10:NM_001385062:exon9:c.C6203T:p.P2068L,IGSF10:NM_001385063:exon9:c.C6203T:p.P2068L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.034210191563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	4.084e-06	6.875e-06	0.0003	2.35e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000341	0.45440	D	0.000000	1	0.81001	D	3.14	0.88230	M	-0.57	0.71307	T	-9.55	0.98488	D	0.63	0.64393	0.714	0.93350	D	0.728	0.90673	D	10	0.9286305	0.92206	D	0.03421	0.55518	D	0.691	0.88773	0.747	0.87821	0.899491837321	0.89849	0.6679274232331618	0.66730	0.183290922129	0.20616	0.59113240242	0.51653	T	0.229573	0.59543	T	0.373449	0.88284	D	0.298657	0.88137	D	0.999926567077637	0.99732	D	0.913509	0.69206	D	0.69505817	0.77786	0.59478515	0.76477	0.69505817	0.77788	0.59478515	0.76478	-13.321	0.90642	D	.	.	0.737	0.74502	P	.	.	4.355419	0.66934	25.0	0.99889344036015648	0.96359	0.99241	0.93311	D	AEFDBI	.	.	.	0.985695943440519	0.95289	13.47912	0.837179406702374	0.92244	11.31662	0.999999999999999	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	9.540000	0.97163	11.825000	0.97352	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:1.0:0.0	19.875	0.96865	814	0.42100	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3221.33	38	chr3	151438358	.	G	A	3221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.785;DP=925;ExcessHet=0;FS=0.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.558;SOR=0.653	GT:AD:DP:GQ:PL	0/1:103,120:223:99:3235,0,2987	18	0	1	0
chr3	151446956	151446956	G	A	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.C3025T:p.R1009C,IGSF10:NM_001385060:exon6:c.C3025T:p.R1009C,IGSF10:NM_178822:exon6:c.C3025T:p.R1009C,IGSF10:NM_001385062:exon7:c.C3025T:p.R1009C,IGSF10:NM_001385063:exon7:c.C3025T:p.R1009C	.	428	1086	8	0	0	8	0.00366972	.	.	.	2099438	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.225	.	7.7e-05	0.00459265	0.0034	9.654e-05	0.0003	0	0	0.0002	0.0022	0.0242	0.0029366	454	154602	rs140953154	0.0016	0.0016	0.0009	0.0022	0.0240	0.0015	0.0015	0.0232	0.0228	0	4.472e-05	0	2.519e-05	0	0.0016	8.363e-05	0.0015	0.0240	0.0008	0.0008	0.0004	0.0012	0.0228	0.0006	0.0006	0.0193	0.0180	9.625e-05	0	0	0	0	0	0	2.94e-05	0	0.0228	0.003	0.68238	D	0.031	0.53788	D	0.999	0.77913	D	0.642	0.52168	P	0.038104	0.24322	N	0.293803	0.701021	0.33421	D	2.3	0.65703	M	-0.4	0.69287	T	-2.81	0.59389	D	0.352	0.39356	-0.4376	0.70810	T	0.246	0.61459	T	10	0.005230248	0.00114	T	.	.	.	0.225	0.52323	.	.	0.808982704999	0.80719	0.4857493066353003	0.48494	0.13870021875	0.15641	0.190077885985	0.00226	T	0.010772	0.09688	T	-0.30806	0.07919	T	-0.197029	0.54929	T	0.107509240820821	0.13164	T	0.744226	0.36418	T	0.22701162	0.45394	0.14243293	0.33884	0.22701162	0.45394	0.14243293	0.33883	-8.708	0.65798	D	.	.	0.127	0.27039	B	.	.	4.911271	0.80804	27.4	0.99908697256026691	0.97875	0.96516	0.69530	D	AEFBI	0.657212	0.62892	D	0.335311030475802	0.57968	3.966632	0.345015051504374	0.58209	3.990014	0.999996484416945	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.37	5.37	0.76949	5.065000	0.64175	6.360000	0.55506	0.509000	0.23192	1.000000	0.71638	0.999000	0.35428	0.539000	0.29915	0.0759:0.0:0.9241:0.0	13.412	0.60394	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	3448.33	34	chr3	151446956	.	G	A	3448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=939;ExcessHet=0;FS=3.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-1.142;SOR=0.898	GT:AD:DP:GQ:PL	0/1:97,118:215:99:3462,0,2510	18	0	1	0
chr3	169143748	169143748	C	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105077:exon3:c.G88T:p.A30S,MECOM:NM_001366466:exon3:c.G460T:p.A154S,MECOM:NM_001366473:exon3:c.G460T:p.A154S,MECOM:NM_004991:exon3:c.G460T:p.A154S	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	436	1039	45	2	0	49	0.0230371	.	.	.	3221779	MECOM-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0032	0.00678914	0.0047	0.0037	0.0029	0	0.0003	0.0032	0.0168	0.0159	0.0043725	676	154602	rs116535717	0.0030	0.0030	0.0025	0.0035	0.0203	0.0029	0.0029	0.0173	0.0162	0.0041	0.0026	0.0066	5.06e-05	7.505e-05	0.0203	0.0020	0.0041	0.0157	0.0040	0.0040	0.0037	0.0044	0.0170	0.0038	0.0037	0.0140	0.0129	0.0035	0.0581	0.0051	0.0104	0.0004	9.427e-05	0.0136	0.0029	0.0057	0.0170	0.003	0.68238	D	0.133	0.37449	T	0.548	0.38076	P	0.089	0.29769	B	.	.	.	.	0.529527	0.81001	D	.	.	.	2.93	0.76948	T	-1.11	0.31778	N	0.623	0.63798	-0.4302	0.71060	T	0.301	0.67195	T	9	0.007782936	0.00177	T	.	.	.	0.161	0.41658	.	.	0.597383033342	0.59418	0.343292361843405	0.34242	0.922736141103	0.71521	0.65283703804	0.60388	T	.	.	.	-0.282396	0.10415	T	-0.165445	0.57859	T	0.0180087818442308	0.00525	T	0.817418	0.47426	T	0.17458437	0.38271	0.17883569	0.40579	0.18525617	0.39879	0.21110153	0.45524	-7.376	0.56735	T	.	.	0.138	0.30264	B	.;.	.;.	4.257225	0.64674	24.7	0.99621839617057428	0.75473	0.97359	0.74250	D	AEFDBI	0.833764	0.75192	D	0.30786349462989	0.56551	3.820003	0.420312686123832	0.62833	4.505449	0.999999999992753	0.74766	0.627647	0.40530	0	0.59043	0.45803	0	0.563428	0.18855	0	0.657601	0.63696	0	.	.	6.07	6.07	0.98675	5.602000	0.67298	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.659	0.99629	714	0.56256	.;SET domain|SET domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.023098	0.014620	0.000000	0.008621	0.018293	0.018939	0.05263	1919.83	33	chr3	169143748	.	C	A	1919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.11;DP=804;ExcessHet=0.119;FS=1.125;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.839;SOR=0.815	GT:AD:DP:GQ:PL	0/1:55,34:89:99:877,0,1391	17	0	2	0
chr3	170390318	170390318	G	A	exonic	SKIL	.	nonsynonymous SNV	SKIL:NM_001145097:exon4:c.G1387A:p.V463I,SKIL:NM_001248008:exon4:c.G1525A:p.V509I,SKIL:NM_005414:exon5:c.G1525A:p.V509I,SKIL:NM_001145098:exon6:c.G1465A:p.V489I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	.	0.00858626	0.0060	9.614e-05	0.0003	0.0001	0	1.498e-05	0.0033	0.0434	0.005084	786	154602	rs555227200	0.0026	0.0026	0.0014	0.0039	0.0423	0.0026	0.0025	0.0412	0.0407	8.961e-05	6.708e-05	0	7.558e-05	0	0.0026	9.892e-06	0.0025	0.0423	0.0014	0.0014	0.0007	0.0022	0.0439	0.0013	0.0012	0.0391	0.0372	9.633e-05	0	6.543e-05	0	0	0	0.0034	2.941e-05	0	0.0439	0.227	0.52492	T	0.459	0.13103	T	0.008	0.18677	B	0.022	0.22909	B	0.436475	0.12682	N	0.764973	1	0.08975	N	0	0.06538	N	-2.74	0.90735	D	-0.23	0.10656	N	0.086	0.10483	-0.5143	0.68128	T	0.493	0.80757	T	10	0.0030667186	0.00051	T	.	.	.	0.239	0.54358	0.4	0.42917	0.826835386655	0.82519	0.04690176099306565	0.04633	0.149256190456	0.16829	0.295313179493	0.09703	T	0.274296	0.64678	T	-0.429866	0.01485	T	-0.357392	0.38353	T	0.0300697229585	0.02001	T	0.657134	0.27986	T	0.03594847	0.04328	0.043122385	0.05293	0.03594847	0.04328	0.043122385	0.05293	-4.403	0.31084	T	.	.	0.087	0.16363	B	.;.;.;.	.;.;.;.	1.545064	0.19810	14.45	0.92811412567743035	0.22337	0.19403	0.20647	N	AEFBI	0.056160	0.10360	N	-0.630599898754659	0.18030	0.9327873	-0.542562058118746	0.21003	1.134198	0.980502808707806	0.30144	0.706548	0.73137	0	0.614415	0.52539	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.254000	0.42868	8.501000	0.77359	0.604000	0.46097	0.028000	0.20300	1.000000	0.68203	0.006000	0.07323	0.0763:0.0:0.9237:0.0	12.614	0.55923	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	1298.33	34	chr3	170390318	.	G	A	1298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.751;DP=731;ExcessHet=0;FS=2.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=1.46;SOR=0.992	GT:AD:DP:GQ:PL	0/1:68,50:118:99:1312,0,1863	18	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.07895	2834.79	30	chr3	179240022	.	T	C	2834.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.57;DP=764;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.84;MQRankSum=-0.958;QD=15.24;ReadPosRankSum=0.125;SOR=0.676	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1397,0,907	16	0	3	0
chr3	186150150	186150150	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241C:p.M747I,DGKG:NM_001080745:exon24:c.G2199C:p.M733I,DGKG:NM_001346:exon25:c.G2316C:p.M772I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0085120324625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.17578414	0.32528	T	0.008512	0.22507	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.1464589451172773	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731769	0.40820	T	-0.34289	0.40017	T	0.780353784561157	0.45072	D	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.868216	0.56145	23.7	0.99043586559296637	0.51073	0.88944	0.49124	D	AEFBI	0.615783	0.60259	D	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	261.44	26	chr3	186150150	.	C	G	261.44	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-1.989;DP=527;ExcessHet=0.3672;FS=187.346;InbreedingCoeff=-0.2269;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=0.496;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,9:34:99:0|1:186150150_C_G:108,0,821:186150150	10	0	2	7
chr3	186150151	186150151	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2240C:p.M747T,DGKG:NM_001080745:exon24:c.T2198C:p.M733T,DGKG:NM_001346:exon25:c.T2315C:p.M772T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0148488252476	.	.	9.186e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs764536140	0	3.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.577e-06	6.569e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.128	0.34959	T	0.945	0.53279	P	0.652	0.52532	P	0.000053	0.53742	D	0.171825	0.649523	0.30545	N	1.43	0.35840	L	1.05	0.42122	T	-3.04	0.62863	D	0.333	0.40665	-0.7914	0.55648	T	0.136	0.45068	T	10	0.20008764	0.36043	T	0.014849	0.35231	T	0.143	0.38195	.	.	0.672509336206	0.66973	0.306322739120449	0.30545	0.213405914334	0.23852	0.605171561241	0.53635	T	0.326708	0.69729	T	-0.0883631	0.38348	T	-0.182557	0.56287	T	0.235707968511018	0.22221	T	0.868613	0.57103	D	0.31741124	0.54420	0.39021182	0.63821	0.31741124	0.54420	0.39021182	0.63821	-8.677	0.67737	D	.	.	0.402	0.59694	A	.;.;.	.;.;.	4.251704	0.64538	24.7	0.9490986179220593	0.25771	0.83225	0.42360	D	AEFBI	0.477544	0.52049	N	0.334716964098364	0.57937	3.963371	0.433533912674598	0.63668	4.605017	0.945156828995575	0.27648	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	4.9	0.63643	4.150000	0.57871	7.078000	0.57462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9229:0.0:0.0771:0.0	10.270	0.42656	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1154	268.55	26	chr3	186150151	.	A	G	268.55	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-1.712;DP=536;ExcessHet=0.3672;FS=156.254;InbreedingCoeff=-0.2123;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=1.24;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,9:34:99:0|1:186150150_C_G:108,0,821:186150150	10	0	3	6
chr3	187199976	187199976	G	T	exonic	RTP1	.	nonsynonymous SNV	RTP1:NM_153708:exon2:c.G698T:p.G233V	.	436	1079	6	1	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	.	0.00638978	0.0035	0	0	0	0	0	0.0012	0.0363	0.0034734	537	154602	rs370018432	0.0019	0.0020	0.0010	0.0028	0.0316	0.0019	0.0018	0.0306	0.0302	0	2.411e-05	0	2.538e-05	0	0.0016	3.007e-05	0.0020	0.0316	0.0009	0.0009	0.0004	0.0013	0.0268	0.0007	0.0007	0.0230	0.0216	2.405e-05	0	6.533e-05	0	0	0	0	0	0	0.0268	0.055	0.38407	T	0.06	0.45744	T	0.18	0.29046	B	0.031	0.21939	B	0.000198	0.48115	D	0.092841	0.999936	0.51612	D	1.35	0.33515	L	-0.3	0.67874	T	-1.1	0.28497	N	0.278	0.31478	-0.7975	0.55292	T	0.195	0.54869	T	10	0.0046980083	0.00099	T	.	.	.	0.133	0.36157	0.522	0.62518	0.314436011497	0.31061	0.6390223661705394	0.63836	0.407534205699	0.41611	0.523221313953	0.42080	T	0.110935	0.42602	T	-0.338232	0.05511	T	-0.234939	0.51292	T	0.0296429253467967	0.01935	T	0.620638	0.23835	T	0.1320763	0.30765	0.14924471	0.35246	0.1320763	0.30765	0.14924471	0.35246	-4.086	0.25083	T	.	.	0.111	0.21503	B	.	.	3.479220	0.48577	22.6	0.99117563973487954	0.52906	0.75778	0.37120	D	AEFDBI	0.402485	0.47655	N	0.0779929302952618	0.45437	2.800282	0.266265302954435	0.53580	3.526248	0.995349558969859	0.34076	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	3.455000	0.52757	6.669000	0.56273	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.418	0.74711	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.037879	0.02632	2094.33	41	chr3	187199976	.	G	T	2094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.99;DP=886;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=1.02;SOR=0.752	GT:AD:DP:GQ:PL	0/1:71,81:152:99:2108,0,1891	18	0	1	0
chr3	187371162	187371162	T	C	exonic	RTP4	.	nonsynonymous SNV	RTP4:NM_022147:exon2:c.T530C:p.L177P	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00125541594854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.258	0.23164	T	0.0	0.02946	B	0.0	0.01387	B	0.594540	0.05611	N	1.261530	1	0.08975	N	-0.805	0.01590	N	2.21	0.18414	T	2.28	0.00297	N	0.028	0.00618	-0.9868	0.33396	T	0.018	0.07470	T	10	0.041783452	0.02866	T	0.001255	0.01683	T	0.024	0.04979	0.281	0.23642	0.350746614512	0.34690	0.13007177215283655	0.12932	0.210956148774	0.23596	0.205325752497	0.00628	T	3.72E-4	0.00113	T	-0.415104	0.01839	T	-0.834045	0.01193	T	0.0407987851446347	0.03836	T	0.243476	0.03544	T	0.036886673	0.04625	0.048585877	0.07247	0.036886673	0.04625	0.048585877	0.07247	-3.1	0.11296	T	.	.	0.049	0.00109	B	.	.	-0.406823	0.02188	0.216	0.7051997829509562	0.09322	0.00022	0.00232	N	AEFBI	0.013731	0.00193	N	-1.24189611320571	0.04407	0.1988446	-1.21732530604623	0.05631	0.2688526	0.991684467508957	0.32573	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.22	1.37	0.21200	-0.225000	0.09156	-1.442000	0.05430	-0.889000	0.02397	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1992:0.5887:0.0:0.2121	3.502	0.07237	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1835.33	134	chr3	187371162	.	T	C	1835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.391;DP=1619;ExcessHet=0;FS=0.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.039;SOR=0.606	GT:AD:DP:GQ:PL	0/1:83,79:162:99:1849,0,2126	18	0	1	0
chr3	188609231	188609231	C	T	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001167672:exon5:c.C500T:p.P167L,LPP:NM_001375465:exon5:c.C500T:p.P167L,LPP:NM_001375455:exon6:c.C500T:p.P167L,LPP:NM_001375456:exon6:c.C500T:p.P167L,LPP:NM_001375458:exon6:c.C500T:p.P167L,LPP:NM_001375459:exon6:c.C500T:p.P167L,LPP:NM_001375461:exon6:c.C500T:p.P167L,LPP:NM_001375463:exon6:c.C500T:p.P167L,LPP:NM_005578:exon6:c.C500T:p.P167L,LPP:NM_001167671:exon7:c.C500T:p.P167L,LPP:NM_001375457:exon7:c.C500T:p.P167L,LPP:NM_001375460:exon7:c.C500T:p.P167L,LPP:NM_001375462:exon7:c.C500T:p.P167L,LPP:NM_001375464:exon7:c.C500T:p.P167L	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	0	1521	1	0	0	1	0.000328623	.	.	.	708727	LPP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.279	0.0756852701419	0.0021	0.000399361	0.0023	0.0004	0.0007	0.0001	0.0015	0.0038	0.0022	0.0001	0.0022057	341	154602	rs149437411	0.0027	0.0027	0.0027	0.0026	0.0032	0.0026	0.0026	0.0032	0.0031	0.0006	0.0009	7.652e-05	5.038e-05	0.0016	0.0005	0.0032	0.0018	0.0003	0.0016	0.0016	0.0016	0.0017	0.0030	0.0015	0.0014	0.0026	0.0025	0.0005	0.0033	0.0007	0.0003	0.0006	0.0009	0	0.0030	0.0005	0.0002	0.008	0.91255	D	0.009	0.72224	D	1.0	0.90584	D	0.969	0.72001	D	0.000001	0.62929	D	0.100947	1	0.81001	D	2.215	0.62545	M	1.69	0.42122	T	-4.23	0.87143	D	0.769	0.76666	-0.5510	0.66749	T	0.364	0.72476	T	10	0.0121845305	0.00263	T	0.075685	0.72348	D	0.279	0.59619	.	.	0.35158688536	0.34763	0.49882407759614367	0.49803	.	.	0.76735919714	0.77029	T	0.098351	0.81674	T	-0.195214	0.21496	T	-0.0530589	0.66813	D	0.0583990158018796	0.06915	T	0.942806	0.78939	D	0.15938053	0.35806	0.16861488	0.38834	0.17074548	0.37667	0.17206265	0.39432	-6.198	0.47907	T	.	.	0.805	0.84099	P	.;.;.;.;.	.;.;.;.;.	5.231409	0.87810	29.4	0.99829687965029434	0.91198	0.98565	0.84156	D	AEFBI	0.773901	0.70777	D	0.769266537345632	0.84153	8.208993	0.778132328304941	0.88236	9.506681	0.999999999999993	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.047000	0.76316	7.719000	0.67224	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.126	0.93369	787	0.46738	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2713.33	69	chr3	188609231	.	C	T	2713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=1246;ExcessHet=0;FS=1.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.972;SOR=0.549	GT:AD:DP:GQ:PL	0/1:98,103:201:99:2727,0,2449	18	0	1	0
chr3	189880135	189880135	T	C	exonic	TP63	.	nonsynonymous SNV	TP63:NM_001114982:exon9:c.T1139C:p.F380S,TP63:NM_001114979:exon11:c.T1421C:p.F474S	ADULT syndrome, Autosomal dominant;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Autosomal dominant;Hay-Wells syndrome, Autosomal dominant;Limb-mammary syndrome, Autosomal dominant;Orofacial cleft 8, Autosomal dominant;Rapp-Hodgkin syndrome, Autosomal dominant;Split-hand/foot malformation 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.614563823495	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	0.00011	17	154602	rs777582372	5.61e-05	5.609e-05	4.493e-05	6.739e-05	0.0005	4.61e-05	4.237e-05	0.0004	0.0003	2.987e-05	0	0	0	0	0.0002	3.058e-05	8.283e-05	0.0005	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	0.073	0.36709	T	1.0	0.02617	T	0.093	0.25333	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	-6.33	0.99669	D	1.49	0.00846	N	0.361	0.40264	1.135	0.99931	D	0.948	0.98287	D	7	0.17121643	0.31828	T	0.614564	0.96645	D	0.488	0.77592	0.257	0.19845	0.742007462506	0.73969	.	.	.	.	.	.	.	.	.	.	-0.080352	0.39657	T	-0.0370406	0.67900	D	0.0573405274608238	0.06744	T	0.475352	0.14216	T	.	.	.	.	.	.	.	.	-2.343	0.04795	T	.	.	0.091	0.14247	B	.;.	.;.	2.727431	0.35692	19.96	0.96559524292004129	0.30254	0.91909	0.54526	D	AEFGBI	0.342926	0.43891	N	-0.132574315799895	0.35978	2.073592	0.0254030653532759	0.40898	2.448203	0.925719556989949	0.26825	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.79	4.6	0.56512	2.185000	0.42215	4.989000	0.46514	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1355:0.0:0.0:0.8645	11.395	0.49077	924	0.18029	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	839.33	34	chr3	189880135	.	T	C	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.15;DP=701;ExcessHet=0;FS=4.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.009;SOR=0.957	GT:AD:DP:GQ:PL	0/1:45,38:83:99:853,0,1131	18	0	1	0
chr3	195782158	195782158	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9422A:p.S3141N	.	429	1080	8	0	5	13	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00413666342871	.	.	0.0020	0.0067	0.0053	0.0053	0.0011	0.0023	0	0.0006	0.0003363	52	154602	rs746330856	0.0002	0.0012	0.0002	0.0003	0.0014	0.0002	0.0002	0.0006	0.0005	0.0009	0.0003	0.0004	0.0003	0.0006	0.0014	0.0002	0.0004	0.0003	0.0009	0.0041	0.0010	0.0009	0.0021	0.0008	0.0007	0.0016	0.0014	0.0021	0	0.0009	0.0006	0.0005	0.0002	0	0.0005	0	0.0005	0.06	0.37326	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.75	0.21003	N	0.055	0.02658	-1.0154	0.25207	T	0.035	0.14943	T	7	0.0050902963	0.00110	T	0.004137	0.09931	T	0.009	0.00846	.	.	0.0138822411134	0.00435	3.115421126634219E-4	0.00028	.	.	0.588040709496	0.51217	T	.	.	.	-0.376137	0.03295	T	-0.778071	0.02512	T	0.0141998693782046	0.00280	T	0.472453	0.14032	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33273	B	.;.	.;.	-0.286937	0.02674	0.344	0.7398967156372207	0.10529	0.00110	0.00700	N	AEFBI	0.069643	0.13794	N	-1.26842644718318	0.04062	0.1826157	-1.3993107211073	0.03260	0.1516938	1.54762710099326E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.244000	0.08921	-4.607000	0.02072	-3.157000	0.00116	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5:0.5:0.0	3.585	0.07516	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.066778	0.117647	0.018817	0.016304	0.000000	0.029412	0.068966	0.063218	0.03846	218.07	622	chr3	195782158	.	C	T	218.07	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-4.278;DP=7395;ExcessHet=0;FS=1.063;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.038;MQ=57.15;MQRankSum=-10.13;QD=0.4;ReadPosRankSum=7.46;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:510,42:552:99:0|1:195782158_C_T:229,0,21158:195782158	12	0	1	6
chr3	195782159	195782159	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A9421G:p.S3141G	.	430	1052	8	0	32	40	0.00378788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00399215593514	.	.	0.0021	0.0067	0.0050	0.0053	0.0011	0.0025	0	0.0006	0.0001164	18	154602	rs878957136	0.0003	0.0012	0.0002	0.0003	0.0026	0.0002	0.0002	0.0013	0.0009	0.0007	0.0005	0.0003	0.0002	0.0005	0.0026	0.0002	0.0004	0.0004	0.0007	0.0036	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0012	0	0.0008	0.0005	0	0.0002	0	0.0005	0	0.0004	0.107	0.29554	T	0.179	0.29540	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.31987	T	-0.95	0.25332	N	0.045	0.01740	-1.0154	0.25207	T	0.035	0.14943	T	7	0.0053928494	0.00118	T	0.003992	0.09462	T	0.009	0.00846	.	.	0.0138822411134	0.00435	2.4761697068474513E-4	0.00022	.	.	0.552296519279	0.46182	T	.	.	.	-0.351777	0.04616	T	-0.74308	0.03762	T	0.0136572361789874	0.00254	T	0.471053	0.13966	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20274	B	.;.	.;.	-0.357385	0.02376	0.261	0.36881785549618518	0.02398	0.00372	0.01892	N	AEFBI	0.070461	0.13989	N	-1.21758775206701	0.04744	0.214791	-1.34443261781201	0.03871	0.1815001	1.39184038827566E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.121000	0.10618	-2.585000	0.03580	-1.248000	0.01305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.0:1.0	3.621	0.07637	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.064167	0.117647	0.010870	0.016129	0.000000	0.029412	0.068966	0.068966	0.03571	211.5	641	chr3	195782159	.	T	C	211.5	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-5.584;DP=7411;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=57.3;MQRankSum=-10.71;QD=0.38;ReadPosRankSum=6.62;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:509,42:557:99:0|1:195782158_C_T:223,0,21242:195782158	13	0	1	5
chr3	195782200	195782200	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9380A:p.S3127Y	.	426	1061	7	0	28	35	0.00328793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0093742069722	.	.	0.0010	0.0051	0	0.0032	0.0006	0.0009	0	0.0004	.	.	.	rs757354628	1.935e-05	6.326e-05	1.742e-05	2.135e-05	0.0003	1.309e-05	1.1e-05	0.0001	0.0001	0.0002	0	0	0.0003	0	0.0003	7.139e-06	4.163e-05	2.882e-05	4.931e-05	0.0003	4.121e-05	5.784e-05	7.923e-05	2.247e-05	1.615e-05	2.1e-05	1.082e-05	7.923e-05	0	7.193e-05	0	0	0	0	4.644e-05	0	0	0.001	0.78490	D	0.028	0.55341	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.37	0.34253	T	-1.12	0.28906	N	0.098	0.07949	-1.0471	0.15217	T	0.054	0.22959	T	7	0.014383912	0.00303	T	0.009374	0.24577	T	0.098	0.28162	.	.	0.1749357433	0.17121	1.0570646054035391E-4	0.00009	.	.	0.595713615417	0.52299	T	.	.	.	-0.240659	0.15265	T	-0.583466	0.14236	T	0.115360602736473	0.13971	T	0.884312	0.60710	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.57829	A	.;.	.;.	1.835683	0.23322	15.97	0.66572446463117263	0.08098	0.20911	0.21213	N	AEFBI	0.167029	0.29367	N	-0.725015443842149	0.15320	0.7710517	-0.925726695320293	0.11488	0.5855354	4.08127828342176E-4	0.06860	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	2.549000	0.45464	-0.318000	0.09987	-1.062000	0.01615	0.303000	0.25352	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.0:0.9999:0.0	6.865	0.23268	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033594	0.064706	0.005102	0.000000	0.000000	0.000000	0.036290	0.030928	0.03125	277.55	600	chr3	195782200	.	G	T	277.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.743;DP=7713;ExcessHet=0;FS=0.994;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=58.56;MQRankSum=-14.79;QD=0.51;ReadPosRankSum=-2.606;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:498,44:542:99:0|1:195782158_C_T:290,0,20476:195782158	15	0	1	3
chr4	967324	967324	G	A	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon9:c.C1025T:p.P342L	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.146182147225	.	0.000798722	0.0019	0	0	0	0	0	0.0068	0.0035	0.0003234	50	154602	rs562323950	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0033	9.483e-05	0.0002	0	0	0	0.0004	1.853e-06	0.0003	0.0038	0.0002	0.0002	0.0001	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	2.409e-05	0	0.0001	0	0	0	0	0	0	0.0050	0.002	0.72154	D	0.003	0.76473	D	0.391	0.34615	B	0.116	0.31939	B	0.178888	0.17158	N	0.601882	0.527245	0.31520	N	1.545	0.39105	L	-1.49	0.81235	T	-7.48	0.94988	D	0.313	0.35301	-0.4804	0.69352	T	0.290	0.66162	T	10	0.012206435	0.00263	T	0.146182	0.82832	D	0.136	0.36778	.	.	0.649035832876	0.64612	0.6024372995849713	0.60174	0.130263863456	0.14695	0.397039592266	0.24656	T	0.353167	0.72050	T	-0.341401	0.05292	T	-0.264648	0.48358	T	0.0848751010301582	0.10598	T	0.531147	0.17633	T	0.17504266	0.38342	0.21134275	0.45558	0.17504266	0.38341	0.21134275	0.45557	-10.452	0.76571	D	.	.	0.108	0.20313	B	.	.	2.691555	0.35134	19.82	0.97911695776239105	0.36815	0.21045	0.21261	N	AEFDBCI	0.099058	0.19948	N	-0.511478226432613	0.21708	1.154043	-0.559384418060888	0.20557	1.108078	0.99920630547092	0.38742	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.636168	0.56350	0	.	.	4.92	1.95	0.25130	1.407000	0.34266	.	.	0.676000	0.76740	0.301000	0.25333	1.000000	0.68203	0.024000	0.12247	0.1117:0.1789:0.4978:0.2116	2.223	0.03733	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001582	0.005682	0.000000	0.000000	0.000000	0.000000	0.000000	0.007874	0.02632	243.33	34	chr4	967324	.	G	A	243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=633;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=0.152;SOR=0.791	GT:AD:DP:GQ:PL	0/1:22,9:31:99:257,0,576	18	0	1	0
chr4	989459	989459	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G1480A:p.V494I,SLC26A1:NM_213613:exon4:c.G1480A:p.V494I	.	428	1091	3	0	0	3	0.001373	.	.	.	2113188	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.215	0.280179036853	.	0.000599042	0.0016	0	0	0	0	0	0	0.0032	0.0002393	37	154602	rs199694618	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	0.0001	0	0	0	0	0.0002	1.295e-05	0.0003	0.0035	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	0.0001	0.0031	0.0026	4.809e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0046	0.129	0.26852	T	0.295	0.20680	T	0.003	0.11197	B	0.008	0.13708	B	0.012377	0.29198	N	0.378699	0.998094	0.22354	N	1.31	0.32734	L	-3.44	0.94428	D	-0.49	0.15578	N	0.069	0.04188	-0.2860	0.75376	T	0.603	0.85881	D	10	0.008259565	0.00187	T	0.280179	0.90202	D	0.215	0.50805	.	.	0.658058094355	0.65520	0.3681338482855599	0.36727	0.0900235829722	0.10153	0.473074704409	0.35103	T	0.096507	0.39838	T	-0.394719	0.02507	T	-0.341869	0.40132	T	0.0128556063939229	0.00220	T	0.681032	0.28992	T	0.028216984	0.02127	0.03681597	0.03206	0.028216984	0.02126	0.03681597	0.03205	-4.789	0.34463	T	0.15116184691112367	0.17811	0.069	0.03407	B	.;.	.;.	-0.091983	0.03689	0.749	0.89576116082224444	0.18915	0.09064	0.14894	N	AEFBHCI	0.043660	0.06928	N	-1.16428600483846	0.05548	0.2532434	-1.25232128878248	0.05097	0.2420428	0.995873510546317	0.34380	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.14	-3.06	0.05053	-0.055000	0.11763	.	.	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.149000	0.20271	0.0:0.3593:0.432:0.2087	7.949	0.29163	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003112	0.000000	0.002809	0.003086	0.000000	0.000000	0.003125	0.007812	0.02632	1106.33	42	chr4	989459	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=957;ExcessHet=0;FS=11.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.264;SOR=0.973	GT:AD:DP:GQ:PL	0/1:59,40:99:99:1120,0,1548	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:97,45:142:99:426,0,2421	1	0	18	0
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.581_582insGCC:p.P201_L202insP,CPEB2:NM_001177383:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.581_582insGCC:p.L202_G709delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051758	0.027778	0.026923	0.069307	0.000000	0.000000	0.041667	0.085938	0.1053	5529.91	48	chr4	15003254	.	A	AGCC	5529.91	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.13;DP=768;ExcessHet=6.9875;FS=0.392;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.29;SOR=0.74	GT:AD:DP:GQ:PL	0/1:28,24:52:99:923,0,1084	15	0	4	0
chr4	38774560	38774560	G	A	exonic	TLR10	.	nonsynonymous SNV	TLR10:NM_001017388:exon2:c.C1031T:p.P344L,TLR10:NM_001195106:exon3:c.C1031T:p.P344L,TLR10:NM_001195107:exon3:c.C1031T:p.P344L,TLR10:NM_001195108:exon3:c.C989T:p.P330L,TLR10:NM_030956:exon4:c.C1031T:p.P344L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.1882165673	.	.	3.386e-05	0	0	0	0	3.038e-05	0	0.0001	4.53e-05	7	154602	rs761369746	3.885e-05	4.104e-05	3.722e-05	4.051e-05	0.0002	3.069e-05	2.758e-05	4.796e-05	3.529e-05	0	0	0	0	0	0.0002	4.252e-05	0	9.784e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000164	0.48594	D	0.000000	1	0.81001	D	2.86	0.83026	M	-1.69	0.82985	D	-9.95	0.98774	D	0.619	0.65930	0.628	0.92260	D	0.734	0.90909	D	10	0.9127592	0.90640	D	0.188217	0.85987	D	0.637	0.86130	.	.	0.983840411159	0.98366	0.4993408907485171	0.49855	0.32890653095	0.35006	0.384158909321	0.22844	T	0.261277	0.63274	T	0.0427797	0.57408	T	0.0134103	0.71202	D	0.996365070343018	0.89195	D	0.864814	0.56255	D	0.64255476	0.74967	0.53235584	0.72978	0.64255476	0.74968	0.53235584	0.72978	-6.456	0.49945	T	.	.	0.356	0.61265	A	.;.;.;.;.;.	.;.;.;.;.;.	4.330362	0.66345	25.0	0.99872704774417453	0.94989	0.95030	0.63183	D	AEFGBCI	0.831444	0.74998	D	0.788224174595275	0.85362	8.553777	0.723804624680245	0.84185	8.222386	0.999999999207201	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.99	4.99	0.65942	7.605000	0.82070	7.285000	0.58036	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	18.262	0.89978	725	0.54935	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2621.33	49	chr4	38774560	.	G	A	2621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=2901;ExcessHet=0;FS=0.491;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.83;SOR=0.63	GT:AD:DP:GQ:PL	0/1:126,99:225:99:2635,0,3249	18	0	1	0
chr4	38775248	38775248	A	T	exonic	TLR10	.	nonsynonymous SNV	TLR10:NM_001017388:exon2:c.T343A:p.L115I,TLR10:NM_001195106:exon3:c.T343A:p.L115I,TLR10:NM_001195107:exon3:c.T343A:p.L115I,TLR10:NM_001195108:exon3:c.T301A:p.L101I,TLR10:NM_030956:exon4:c.T343A:p.L115I	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.00638978	0.0025	0	8.667e-05	0.0001	0	3.004e-05	0.0011	0.0180	0.0021992	340	154602	rs201054490	0.0010	0.0010	0.0006	0.0014	0.0163	0.0010	0.0009	0.0156	0.0153	0	2.244e-05	0	5.039e-05	0	0.0009	5.397e-06	0.0010	0.0163	0.0006	0.0006	0.0003	0.0010	0.0195	0.0005	0.0005	0.0163	0.0151	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0195	0.248	0.17239	T	0.308	0.19845	T	0.087	0.24971	B	0.116	0.31939	B	0.282109	0.14926	N	0.546949	1	0.08975	N	0.42	0.12520	N	1.66	0.27486	T	-0.44	0.14588	N	0.143	0.18784	-1.0212	0.23324	T	0.048	0.20672	T	10	0.0062181056	0.00140	T	.	.	.	0.011	0.01250	0.497	0.58678	0.474406357249	0.47070	0.07223057680280812	0.07160	0.057098130561	0.06318	0.272871762514	0.06518	T	0.027522	0.20139	T	-0.622434	0.00106	T	-0.653234	0.08729	T	0.0151651456043097	0.00331	T	0.690331	0.29972	T	0.06035557	0.12375	0.04624237	0.06402	0.06035557	0.12375	0.04624237	0.06402	-5.049	0.37367	T	.	.	0.080	0.08899	B	.;.;.;.;.;.	.;.;.;.;.;.	1.163330	0.15522	11.91	0.88067447413078193	0.17691	0.05078	0.10873	N	AEFBCI	0.083623	0.16943	N	-0.769190203444984	0.14117	0.7006795	-0.774099613117215	0.15131	0.7942604	0.781175535967202	0.23845	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.23	0.247	0.14781	-0.160000	0.10029	-1.123000	0.06262	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.4277:0.0:0.3376:0.2347	4.457	0.11070	725	0.54935	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.007576	0.02632	1868.33	49	chr4	38775248	.	A	T	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.131;DP=1508;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.406;SOR=0.709	GT:AD:DP:GQ:PL	0/1:94,74:168:99:1882,0,2435	18	0	1	0
chr4	38878197	38878197	C	T	exonic	FAM114A1	.	nonsynonymous SNV	FAM114A1:NM_001350632:exon2:c.C119T:p.S40L,FAM114A1:NM_001350635:exon2:c.C119T:p.S40L,FAM114A1:NM_001375792:exon2:c.C119T:p.S40L,FAM114A1:NM_001375793:exon2:c.C119T:p.S40L,FAM114A1:NM_138389:exon3:c.C119T:p.S40L	.	421	1086	15	0	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0081	0.0157748	0.0061	0.0217	0.0023	0.0059	0	0.0012	0.0011	0.0215	0.0057179	884	154602	rs34137542	0.0031	0.0031	0.0026	0.0035	0.0244	0.0030	0.0030	0.0230	0.0225	0.0244	0.0020	0	0.0136	7.489e-05	0.0035	0.0009	0.0043	0.0200	0.0085	0.0085	0.0085	0.0085	0.0240	0.0081	0.0080	0.0228	0.0223	0.0240	0.0044	0.0042	0	0.0083	0.0002	0	0.0008	0.0076	0.0240	0.495	0.09600	T	0.34	0.18018	T	0.0	0.02946	B	0.001	0.04355	B	0.497446	0.11988	N	0.739752	1	0.08975	N	0.695	0.17993	N	2.03	0.20959	T	-0.36	0.25551	N	0.09	0.06854	-0.9824	0.34445	T	0.014	0.05465	T	10	0.0031594634	0.00053	T	.	.	.	0.024	0.04979	.	.	0.255777322467	0.25185	0.11119508534915343	0.11048	0.0590795601073	0.06558	0.30372685194	0.10959	T	0.002292	0.01691	T	-0.61533	0.00118	T	-0.635026	0.10035	T	0.00104489575706193	0.00010	T	0.730127	0.37241	T	0.03301183	0.03435	0.038464375	0.03722	0.03301183	0.03435	0.038464375	0.03722	-3.757	0.20164	T	.	.	0.083	0.09094	B	.;.	.;.	0.403446	0.07744	4.428	0.12183678467777848	0.00204	0.02394	0.06790	N	AEFGBI	0.068032	0.13401	N	-0.956910368729772	0.09538	0.4518637	-0.997644231931844	0.09838	0.4918054	0.926520147409977	0.26855	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.69	0.855	0.18150	0.398000	0.20624	0.726000	0.21050	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.168000	0.20914	0.0:0.5867:0.0:0.4133	7.600	0.27238	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.005051	0.008152	0.002924	0.000000	0.008621	0.000000	0.018939	0.02632	2121.33	37	chr4	38878197	.	C	T	2121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=923;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.428;SOR=0.773	GT:AD:DP:GQ:PL	0/1:73,74:147:99:2135,0,2003	18	0	1	0
chr4	38998856	38998856	A	T	exonic	TMEM156	.	nonsynonymous SNV	TMEM156:NM_001303228:exon2:c.T142A:p.Y48N,TMEM156:NM_024943:exon2:c.T142A:p.Y48N	.	440	1078	4	0	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00749179814587	0.0004	0.000798722	0.0009	0	0.0026	0	0	0.0004	0.0044	0.0027	0.0007568	117	154602	rs146524602	0.0005	0.0005	0.0004	0.0006	0.0030	0.0005	0.0005	0.0027	0.0026	0	0.0021	3.828e-05	0	1.873e-05	0.0014	0.0003	0.0006	0.0030	0.0004	0.0004	0.0004	0.0004	0.0018	0.0003	0.0003	0.0013	0.0011	9.622e-05	0	0.0018	0	0	0	0	0.0004	0.0014	0.0015	0.099	0.30656	T	0.252	0.23570	T	0.073	0.24078	B	0.064	0.27215	B	0.438121	0.12662	N	0.727649	1	0.08975	N	2.505	0.72935	M	1.75	0.26152	T	-5.93	0.90332	D	0.334	0.37509	-1.0119	0.26322	T	0.049	0.20987	T	10	0.012524933	0.00269	T	0.007492	0.19872	T	0.067	0.19503	.	.	0.297031009988	0.29315	0.30078553010206294	0.29991	0.0445187300976	0.04807	0.390174865723	0.23694	T	0.024085	0.18267	T	-0.438045	0.01328	T	-0.405048	0.32797	T	0.0883604236819999	0.11021	T	0.723028	0.33655	T	0.16905516	0.37400	0.23395243	0.48599	0.16905516	0.37399	0.23395243	0.48598	-3.284	0.13532	T	.	.	0.089	0.15070	B	.;.	.;.	1.489786	0.19165	14.12	0.63635648495871955	0.07276	0.40293	0.26404	N	AEFBI	0.086764	0.17593	N	-0.558336209723447	0.20223	1.064509	-0.556170380723415	0.20642	1.11306	1.45041214246193E-4	0.05573	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	2.38	0.28415	1.707000	0.37507	1.543000	0.27241	0.756000	0.94297	0.999000	0.42656	0.831000	0.27213	0.304000	0.24594	0.7251:0.0:0.0962:0.1787	4.147	0.09689	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1113.33	33	chr4	38998856	.	A	T	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.348;DP=700;ExcessHet=0;FS=1.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.663;SOR=0.49	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1127,0,728	18	0	1	0
chr4	51995854	51995854	C	G	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.G1168C:p.A390P	.	426	1082	14	0	0	14	0.00642792	.	.	.	3287937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.317	0.0489062536069	0.0004	0.000199681	0.0004	0.0003	8.648e-05	0	0	0.0004	0.0011	0.0012	0.0003363	52	154602	rs202189181	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0003	0.0014	0.0013	8.961e-05	0.0002	0	0	1.872e-05	0.0017	0.0003	0.0004	0.0016	0.0003	0.0003	0.0002	0.0004	0.0025	0.0002	0.0002	0.0014	0.0011	7.228e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0009	0.0025	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000335	0.45700	D	0.000000	0.98466	0.40176	D	2.22	0.62911	M	0.78	0.49358	T	-2.75	0.58407	D	0.844	0.83987	-0.4920	0.68937	T	0.270	0.64162	T	10	0.2400125	0.41152	T	0.048906	0.63579	D	0.317	0.63904	.	.	0.27132560031	0.26736	0.7322897817850141	0.73173	0.227313501387	0.25282	0.613262951374	0.54777	T	0.149757	0.48891	T	-0.202809	0.20400	T	-0.0994754	0.63438	T	0.248084232211113	0.22787	T	0.756924	0.38041	T	0.84556854	0.87010	0.8276329	0.90031	0.84556854	0.87012	0.8276329	0.90031	-14.332	0.94086	D	.	.	0.906	0.83168	P	.	.	4.523784	0.70949	25.6	0.99743359568452372	0.83703	0.92795	0.56564	D	AEFDBIJ	0.713108	0.66601	D	0.502420426076887	0.67234	5.054368	0.413809405560411	0.62423	4.457548	0.999995936501234	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.67	4.67	0.58089	4.772000	0.62019	7.568000	0.60641	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	0.0:1.0:0.0:0.0	14.651	0.68399	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.000000	0.05263	6060.81	33	chr4	51995854	.	C	G	6060.81	.	AC=2;AF=0.053;AN=38;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.9;SOR=0.95	GT:AD:DP:GQ:PL	1/1:0,190:190:99:6088,570,0	18	1	0	0
chr4	55098263	55098263	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon17:c.G2383A:p.G795R	Hemangioma, capillary infantile, somatic	1	1516	5	0	0	5	0.00164636	.	.	.	3275787	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.469	0.0963481309283	.	0.000599042	0.0002	0	0	0	0	0	0	0.0013	0.0001617	25	154602	rs564385300	8.963e-05	8.961e-05	4.629e-05	0.0001	0.0015	7.691e-05	7.235e-05	0.0013	0.0012	0	0	0	0	0	0.0002	0	6.626e-05	0.0015	7.88e-05	7.874e-05	5.139e-05	0.0001	0.0017	4.494e-05	3.51e-05	0.0008	0.0006	0	0	0	0	0	0	0.0102	0	0.0005	0.0017	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.95	0.75438	T	-2.32	0.51478	N	0.84	0.83576	0.032	0.82892	D	0.523	0.82221	D	10	0.0633387	0.08236	T	0.096348	0.76587	D	0.469	0.76355	0.401	0.43081	0.262679179196	0.25893	0.7449126424789095	0.74437	0.654282127672	0.58521	0.574513673782	0.49314	T	0.213664	0.57505	T	-0.119705	0.33173	T	0.0147419	0.71290	D	0.196136252728858	0.20199	T	0.941106	0.78031	D	0.38877383	0.59944	0.18680406	0.41876	0.43636373	0.63168	0.21629195	0.46250	-6.344	0.49071	T	.	.	0.135	0.29255	B	.;.	.;.	4.661327	0.74398	26.2	0.99912316947193025	0.98167	0.98282	0.81233	D	AEFBI	0.812409	0.73515	D	0.604506491562329	0.73457	5.969556	0.577606885735399	0.73338	5.954087	0.999998879015611	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	4.761000	0.61939	7.734000	0.67822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.541000	0.29961	0.0:1.0:0.0:0.0	19.293	0.94097	698	0.58074	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	762.33	33	chr4	55098263	.	C	T	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.167;DP=717;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.08;SOR=0.494	GT:AD:DP:GQ:PL	0/1:54,32:86:99:776,0,1553	18	0	1	0
chr4	56601061	56601061	A	C	exonic	THEGL	.	nonsynonymous SNV	THEGL:NM_001256475:exon8:c.A1235C:p.H412P	.	422	1042	53	5	0	63	0.0293433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0170	0	0.0109	0	.	0.0181	0	0.0176	0.0020569	318	154602	rs189562677	0.0058	0.0055	0.0052	0.0065	0.0194	0.0057	0.0057	0.0186	0.0183	0.0009	0.0022	0.0198	2.799e-05	0.0008	0.0183	0.0050	0.0073	0.0194	0.0040	0.0040	0.0040	0.0039	0.0164	0.0037	0.0036	0.0135	0.0124	0.0006	0.0011	0.0014	0.0196	0	0.0012	0.0136	0.0056	0.0057	0.0164	0.036	0.43393	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.015	0.55033	M	1.54	0.30133	T	-4.5	0.78135	D	0.172	0.18376	.	.	.	.	.	.	.	0.005950302	0.00133	T	.	.	.	.	.	.	.	.	.	0.4504680127375459	0.44964	.	.	0.425163269043	0.28547	T	0.043975	0.26670	T	-0.446262	0.01188	T	-0.398205	0.33593	T	.	.	.	0.419858	0.11135	T	0.41277054	0.61608	0.3506432	0.60670	0.41277054	0.61608	0.3506432	0.60669	-6.935	0.53558	T	.	.	0.371	0.57902	A	.	.	2.684197	0.35026	19.79	0.84540003119271534	0.15351	0.51585	0.28930	D	AEFBI	0.193064	0.32019	N	.	.	.	.	.	.	0.0167546444620353	0.12869	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	2.789000	0.47504	4.571000	0.43881	0.750000	0.87069	0.767000	0.29322	0.995000	0.32472	0.005000	0.06747	1.0:0.0:0.0:0.0	11.264	0.48329	864	0.32732	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	5855.79	34	chr4	56601061	.	A	C	5855.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.229;DP=1051;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.616;SOR=0.665	GT:AD:DP:GQ:PL	0/1:91,76:167:99:1986,0,2296	16	0	3	0
chr4	68229452	68229452	G	A	exonic	TMPRSS11B	.	nonsynonymous SNV	TMPRSS11B:NM_182502:exon8:c.C751T:p.R251W	.	428	1079	14	1	0	16	0.00735971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.127465072404	7.7e-05	0.000199681	0.0005	0	0.0004	0	0	0.0004	0.0011	0.0016	0.0004334	67	154602	rs201912154	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0029	0.0024	0.0001	0.0005	0.0003	0.0001	0	0.0042	0.0003	0.0007	0.0022	0.0003	0.0003	0.0003	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	4.817e-05	0	0.0006	0.0003	0.0002	0	0	0.0002	0	0.0023	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.87	0.61806	P	0.615478	0.10827	N	0.744561	1	0.08975	N	2.975	0.85398	M	-3.27	0.93640	D	-6.29	0.90729	D	0.251	0.28381	0.175	0.85477	D	0.843	0.94760	D	10	0.04069996	0.02661	T	0.127465	0.80927	D	0.298	0.61843	.	.	0.411401001288	0.40751	0.8305988557427127	0.83018	0.0299362923348	0.03083	0.188965350389	0.00207	T	0.75884	0.93451	D	-0.259894	0.12912	T	-0.152881	0.58989	T	0.131985702834619	0.15564	T	0.830717	0.49671	T	0.3139372	0.54124	0.36682844	0.62005	0.3139372	0.54124	0.36682844	0.62004	-10.165	0.74893	D	.	.	0.114	0.22573	B	.	.	2.581171	0.33463	19.35	0.99439262885682589	0.64670	0.04602	0.10258	N	AEFGI	0.133399	0.25305	N	-0.344369494826165	0.27479	1.50798	-0.612968244684275	0.19160	1.026761	5.84066343181291E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.62	0.599	0.16698	-2.218000	0.01303	.	.	-0.913000	0.02247	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.1792:0.1529:0.3535:0.3144	0.999	0.01381	792	0.45996	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	539.33	34	chr4	68229452	.	G	A	539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.783;DP=691;ExcessHet=0;FS=0.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.053;SOR=0.546	GT:AD:DP:GQ:PL	0/1:35,25:60:99:553,0,869	18	0	1	0
chr4	69096951	69096951	G	C	exonic	UGT2B7	.	nonsynonymous SNV	UGT2B7:NM_001074:exon1:c.G431C:p.R144T,UGT2B7:NM_001330719:exon1:c.G431C:p.R144T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.017486467397	.	.	8.275e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs778529315	2.053e-06	2.052e-06	1.362e-06	2.752e-06	2.325e-05	5.5e-07	1.5e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.325e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.056	0.49663	T	0.298	0.32505	B	0.315	0.44785	B	0.119015	0.19091	U	0.462823	1	0.08975	N	2.05	0.56469	M	-0.03	0.63077	T	-3.61	0.73788	D	0.161	0.16864	-0.8168	0.54133	T	0.199	0.55527	T	9	0.1509304	0.28538	T	0.017486	0.39209	T	0.066	0.19193	0.458	0.52427	0.107399877778	0.10242	0.2558937755282273	0.25503	0.060419596031	0.06713	0.256847202778	0.04523	T	0.419759	0.77168	T	-0.252981	0.13735	T	-0.500536	0.22293	T	0.587886869907379	0.35923	D	0.675632	0.35246	T	0.15251456	0.34617	0.20062423	0.44002	0.15251456	0.34617	0.20062423	0.44001	-6.458	0.49961	T	.	.	0.127	0.33273	B	.;.;.	.;.;.	0.561713	0.09303	6.084	0.89250608118182195	0.18637	0.06366	0.12366	N	AEFBCIJ	0.576699	0.57859	D	-1.02578746487125	0.08071	0.3771661	-1.23116164353212	0.05416	0.2580081	0.999224684906873	0.38808	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.54	-3.17	0.04882	-0.727000	0.05034	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.6829:0.0:0.3171:0.0	8.363	0.31531	677	0.60274	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2927.33	42	chr4	69096951	.	G	C	2927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1076;ExcessHet=0;FS=9.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.257;SOR=1.27	GT:AD:DP:GQ:PL	0/1:149,102:251:99:2941,0,4219	18	0	1	0
chr4	74750714	74750714	T	C	exonic	BTC	.	nonsynonymous SNV	BTC:NM_001729:exon4:c.A287G:p.D96G	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00756126959653	.	0.000399361	0.0009	0	8.637e-05	0.0001	0.0015	0.0008	0.0011	0.0024	0.0007503	116	154602	rs199618373	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	0	2.25e-05	0	0.0002	0.0009	0.0010	0.0001	0.0004	0.0026	0.0002	0.0002	0.0001	0.0004	0.0031	0.0002	0.0002	0.0019	0.0015	4.811e-05	0	0.0001	0	0	0.0010	0	0.0001	0.0005	0.0031	0.018	0.50676	D	0.028	0.54934	D	0.688	0.41582	P	0.276	0.40142	B	0.005955	0.32383	N	0.341890	0.700256	0.33414	D	1.65	0.42232	L	2.52	0.14160	T	-2.95	0.61580	D	0.444	0.48227	-1.0073	0.27758	T	0.044	0.18742	T	10	0.019601345	0.00440	T	0.007561	0.20060	T	0.097	0.27909	.	.	0.457922657367	0.45416	0.6013541664113288	0.60066	0.0582224252994	0.06448	0.415858328342	0.27266	T	0.746926	0.93034	D	-0.441342	0.01270	T	-0.41166	0.32033	T	0.0668191510158228	0.08197	T	0.857714	0.54741	D	0.17567264	0.38438	0.28970918	0.54992	0.17567264	0.38438	0.28970918	0.54991	-8.186	0.62330	D	.	.	0.183	0.39697	B	.	.	4.250972	0.64526	24.7	0.99480470993121717	0.66850	0.91781	0.54249	D	AEFGI	0.605483	0.59618	D	0.364699219649446	0.59520	4.132092	0.428848071137075	0.63371	4.569329	0.878865822802503	0.25575	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.32	5.32	0.75377	5.540000	0.66915	5.655000	0.49197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	13.871	0.63119	910	0.22284	EGF-like, conserved site|EGF-like, conserved site|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1382.33	34	chr4	74750714	.	T	C	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.244;DP=773;ExcessHet=0;FS=1.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.075;SOR=0.527	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1396,0,1370	18	0	1	0
chr4	75564159	75564159	C	T	exonic	ODAPH	.	nonsynonymous SNV	ODAPH:NM_001257072:exon2:c.C113T:p.A38V,ODAPH:NM_178497:exon2:c.C113T:p.A38V,ODAPH:NM_001206981:exon3:c.C157T:p.R53W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00524529313922	7.7e-05	0.000199681	0.0002	0	0	0	0	2.997e-05	0	0.0013	0.0001552	24	154602	rs374774709	0.0001	0.0001	8.303e-05	0.0002	0.0013	0.0001	9.966e-05	0.0011	0.0010	0	0	0	0	3.744e-05	0.0002	4.856e-05	0.0001	0.0013	3.94e-05	3.937e-05	0	8.059e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.426	0.09658	T	0.234	0.24840	T	0.003	0.11197	B	0.005	0.11217	B	0.413363	0.04604	N	1.451660	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.27	0.11366	N	0.074	0.04790	-0.9559	0.39934	T	0.073	0.29515	T	10	0.008630097	0.00196	T	0.005245	0.13371	T	0.038	0.09825	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.003635	0.03040	T	-0.508505	0.00512	T	-0.55365	0.16978	T	0.00824453678199253	0.00099	T	0.585041	0.21304	T	0.017935049	0.00316	0.026215326	0.00700	0.017935049	0.00316	0.026215326	0.00700	-3.455	0.15807	T	0.06337201472697633	0.01943	0.087	0.11989	B	.;.	.;.	0.088358	0.04928	1.501	0.44044515082711166	0.03358	0.00371	0.01888	N	AEFI	0.031574	0.03406	N	-1.61228579621755	0.01204	0.05236187	-1.72625521586043	0.01026	0.04602234	0.999298134611086	0.39042	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.9	-9.79	0.00411	-1.217000	0.03089	-3.500000	0.02739	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3894:0.3052:0.3054	7.448	0.26392	938	0.14419	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2210.33	33	chr4	75564159	.	C	T	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.07;DP=927;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.08;SOR=0.822	GT:AD:DP:GQ:PL	0/1:70,84:154:99:2224,0,1787	18	0	1	0
chr4	75957683	75957683	A	G	exonic	SDAD1	.	nonsynonymous SNV	SDAD1:NM_001288983:exon18:c.T1493C:p.M498T,SDAD1:NM_001288984:exon19:c.T1313C:p.M438T,SDAD1:NM_018115:exon19:c.T1604C:p.M535T	.	435	1080	7	0	0	7	0.00323027	.	.	.	2822592	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0032	0.00279553	0.0053	0.0006	0.0004	0	0.0296	0.0061	0.0088	0.0012	0.0048706	753	154602	rs114534142	0.0051	0.0051	0.0050	0.0051	0.0050	0.0050	0.0049	0.0049	0.0048	0.0007	0.0007	0.0014	0	0.0261	0.0024	0.0050	0.0040	0.0013	0.0046	0.0046	0.0043	0.0049	0.0056	0.0043	0.0042	0.0051	0.0050	0.0006	0.0011	0.0009	0.0012	0	0.0250	0	0.0056	0.0009	0.0010	0.709	0.04148	T	0.594	0.08134	T	0.0	0.02946	B	0.002	0.06944	B	0.533790	0.11610	N	0.815477	1	0.08975	N	0.06	0.08197	N	2.05	0.20664	T	0.19	0.05503	N	0.055	0.06720	-0.9545	0.40185	T	0.015	0.05801	T	10	0.0017833412	0.00023	T	.	.	.	0.010	0.01040	.	.	0.101711395817	0.09552	0.1075196926481377	0.10680	0.0614379002088	0.06845	0.212230697274	0.00909	T	0.004499	0.03907	T	-0.64445	0.00078	T	-0.692935	0.06220	T	0.00304556858701323	0.00032	T	0.487551	0.14930	T	0.047017943	0.07968	0.06709048	0.13832	0.047017943	0.07968	0.06709048	0.13832	-2.807	0.08248	T	.	.	0.066	0.02257	B	.;.	.;.	0.845266	0.12171	8.719	0.47605109599516915	0.03905	0.09519	0.15257	N	AEFBI	0.070198	0.13925	N	-0.998821430156393	0.08630	0.405332	-0.917382945242897	0.11684	0.5967665	9.27303907318025E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.25	-0.151	0.12755	0.660000	0.24691	1.239000	0.25094	0.751000	0.87719	0.001000	0.13787	0.000000	0.08366	0.911000	0.44643	0.4486:0.0:0.5514:0.0	8.123	0.30140	802	0.44336	SDA1 domain;SDA1 domain	.	.	.	.	rs114534142	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1759.33	45	chr4	75957683	.	A	G	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.907;DP=1422;ExcessHet=0;FS=1.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.987;SOR=0.557	GT:AD:DP:GQ:PL	0/1:80,68:148:99:1773,0,2224	18	0	1	0
chr4	83463512	83463512	C	T	exonic	ABRAXAS1	.	nonsynonymous SNV	ABRAXAS1:NM_001345962:exon7:c.G451A:p.A151T,ABRAXAS1:NM_139076:exon8:c.G778A:p.A260T	.	.	.	.	.	.	.	.	.	.	.	1857219	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0212842845062	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200727513	1.377e-06	3.421e-06	2.742e-06	0	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.11514	T	0.505	0.13066	T	0.264	0.31602	B	0.09	0.29851	B	0.206193	0.16477	N	0.554792	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.57	0.17210	N	0.162	0.17002	-1.0296	0.20583	T	0.091	0.34955	T	10	0.13651595	0.25974	T	0.021284	0.44035	T	0.048	0.13305	.	.	0.367992661779	0.36405	0.14821388443617792	0.14743	0.120333944722	0.13553	0.30477720499	0.11117	T	0.002012	0.01422	T	-0.323888	0.06584	T	-0.703019	0.05662	T	0.0693262762824745	0.08556	T	0.567243	0.20104	T	0.023787994	0.01150	0.042738777	0.05158	0.023787994	0.01150	0.042738777	0.05158	-4.604	0.32222	T	0.14203361391289301	0.16029	0.073	0.05231	B	.;.	.;.	1.403844	0.18184	13.59	0.86762360654592252	0.16756	0.69069	0.34043	D	AEFBI	0.099327	0.19996	N	-0.39787935461366	0.25544	1.38743	-0.340583840991836	0.26801	1.482808	0.0083281100655636	0.11654	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.69	3.03	0.34070	0.410000	0.20819	2.618000	0.33617	-0.193000	0.09282	0.562000	0.27441	1.000000	0.68203	0.004000	0.06068	0.0:0.6335:0.1411:0.2253	6.646	0.22126	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	90.12	65	chr4	83463512	.	C	T	90.12	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.418;DP=847;ExcessHet=0.3672;FS=158.539;InbreedingCoeff=-0.1287;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.423;SOR=7.978	GT:AD:DP:GQ:PL	0/1:50,19:69:55:55,0,966	13	0	3	3
chr4	87615731	87615731	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	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,23:47:99:0|1:87615730_ATAG_A:883,0,897:87615730	1	11	7	0
chr4	87615740	87615740	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,14:38:99:0|1:87615730_ATAG_A:859,0,1231:87615730	7	7	5	0
chr4	87615746	87615746	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,14:38:99:0|1:87615730_ATAG_A:859,0,1231:87615730	7	7	5	0
chr4	87615749	87615767	CAGCAGTGACAGCAGCGAT	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	1015	436	27	4	40	75	0.0385888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1003.04	32	chr4	87615749	.	CAGCAGTGACAGCAGCGAT	*	1003.04	.	AC=13;AF=0.5;AN=26;BaseQRankSum=2.3;DP=810;ExcessHet=2.7716;FS=0.432;InbreedingCoeff=-0.3684;MLEAC=16;MLEAF=0.615;MQ=58.37;MQRankSum=-2.137;QD=3.37;ReadPosRankSum=0.68;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,14:34:99:1|0:87615730_ATAG_A:563,0,1207:87615730	2	2	9	6
chr4	88262657	88262657	T	C	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon7:c.A1057G:p.K353E	.	430	1091	1	0	0	1	0.000458085	.	.	.	1381493	not_specified|Maple_syrup_urine_disease,_mild_variant	MedGen:CN169374|MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.0059092032038	0.0002	.	4.127e-05	0	0	0	0	6.005e-05	0.0011	0	3.23e-05	5	154602	rs199904313	1.847e-05	1.847e-05	1.77e-05	1.925e-05	0.0009	1.265e-05	1.084e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	1.349e-05	6.624e-05	2.319e-05	2.628e-05	2.627e-05	2.57e-05	2.69e-05	6.546e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.135	0.37589	T	0.016	0.17332	B	0.008	0.13708	B	0.000003	0.62929	D	0.099477	0.999886	0.50402	D	1.245	0.31408	L	.	.	.	.	.	.	0.158	0.30233	-1.0905	0.05449	T	0.039	0.16634	T	10	0.11277264	0.21164	T	0.005909	0.15400	T	0.033	0.08068	.	.	0.45746916685	0.45369	0.5675829352976484	0.56686	0.367430760689	0.38303	0.594821214676	0.52174	T	0.083029	0.36963	T	-0.115586	0.33847	T	-0.340162	0.40326	T	0.538121581077576	0.34034	D	0.80172	0.45334	T	0.1761636	0.38515	0.20462559	0.44594	0.1761636	0.38515	0.20462559	0.44593	-6.965	0.53778	T	.	.	0.134	0.29060	B	.;.;.	.;.;.	3.268787	0.44732	22.0	0.99774869043139303	0.86260	0.92910	0.56848	D	AEFBI	0.688346	0.64938	D	-0.134985618056538	0.35875	2.066304	0.0461518471088958	0.41885	2.524005	0.724458079564429	0.22971	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.09	4.09	0.47038	5.854000	0.69242	5.915000	0.51078	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.007	0.58115	670	0.60992	.;PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2131.33	34	chr4	88262657	.	T	C	2131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.529;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.646;SOR=0.742	GT:AD:DP:GQ:PL	0/1:82,82:164:99:2145,0,2285	18	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P	.	259	1180	76	7	0	90	0.0367347	.	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.010101	0.004076	0.038012	0.050000	0.025862	0.024390	0.022727	0.02632	2294.33	34	chr4	95841007	.	G	C	2294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=790;ExcessHet=0;FS=1.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.282;SOR=0.814	GT:AD:DP:GQ:PL	0/1:82,78:160:99:2308,0,2150	18	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:90,46:136:99:212,0,1573	2	0	16	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,51:125:99:.:.:369,0,1141:.	2	0	17	0
chr4	99946507	99946507	C	T	exonic	DNAJB14	.	nonsynonymous SNV	DNAJB14:NM_001031723:exon1:c.G65A:p.G22D,DNAJB14:NM_001278311:exon1:c.G65A:p.G22D	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.538931211126	.	.	8.371e-06	0	0	0	0	0	0	6.13e-05	6.5e-06	1	154602	rs747154758	4.789e-06	4.788e-06	1.361e-06	8.252e-06	6.957e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	0	1.656e-05	6.957e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.068	0.35726	T	0.049	0.48336	D	0.997	0.70673	D	0.91	0.64641	D	0.000009	0.62929	D	0.065716	0.999997	0.58761	D	.	.	.	-0.34	0.68474	T	-3.37	0.66665	D	0.34	0.53006	0.126	0.84646	D	0.510	0.81608	D	10	0.46442628	0.59482	T	0.538931	0.95697	D	0.400	0.71401	0.474	0.55020	0.473786764527	0.47009	0.8692266349543613	0.86887	1.59919968995	0.88670	0.838611125946	0.87883	D	0.200407	0.55798	T	-0.118356	0.33393	T	-0.226259	0.52132	T	0.987681925296783	0.78133	D	0.762324	0.44736	T	0.74396944	0.80520	0.76570076	0.86161	0.74396944	0.80522	0.76570076	0.86162	-7.014	0.54136	T	.	.	0.875	0.89556	P	.;.	.;.	4.264297	0.64833	24.8	0.99822050112249894	0.90502	0.53691	0.29433	D	ALL	0.551180	0.56336	D	0.553203827282038	0.70279	5.47807	0.439178142134743	0.64024	4.648509	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.7	3.7	0.41607	2.216000	0.42511	6.897000	0.56859	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.029	0.80365	768	0.49510	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1374.33	33	chr4	99946507	.	C	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=748;ExcessHet=0;FS=1.516;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.005;SOR=0.877	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1388,0,1240	18	0	1	0
chr4	103066356	103066356	T	C	exonic	SLC9B2	.	nonsynonymous SNV	SLC9B2:NM_001300754:exon3:c.A242G:p.H81R,SLC9B2:NM_001300756:exon3:c.A242G:p.H81R,SLC9B2:NM_001370199:exon3:c.A242G:p.H81R,SLC9B2:NM_001370200:exon3:c.A242G:p.H81R,SLC9B2:NM_001370201:exon3:c.A242G:p.H81R,SLC9B2:NM_001370202:exon3:c.A242G:p.H81R,SLC9B2:NM_001370203:exon3:c.A242G:p.H81R,SLC9B2:NM_001370204:exon3:c.A242G:p.H81R,SLC9B2:NM_001370205:exon3:c.A242G:p.H81R,SLC9B2:NM_001370206:exon3:c.A242G:p.H81R,SLC9B2:NM_001370207:exon3:c.A242G:p.H81R,SLC9B2:NM_178833:exon3:c.A242G:p.H81R	.	436	1085	1	0	0	1	0.000460617	.	.	.	2262054	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0047687462991	.	.	4.121e-05	0	0	0	0.0002	1.499e-05	0.0011	0.0001	3.23e-05	5	154602	rs200766604	3.079e-05	3.078e-05	2.314e-05	3.851e-05	0.0003	2.347e-05	2.095e-05	0.0002	0.0002	0	0	0	0	0	0	1.529e-05	3.312e-05	0.0003	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0	9.411e-05	0	0	0	0.0002	1.0	0.02581	T	1.0	0.02336	T	0.0	0.02946	B	0.001	0.04355	B	0.423655	0.12838	N	0.695480	1	0.08975	N	0.185	0.09099	N	1.98	0.23884	T	-0.86	0.23372	N	0.154	0.20925	-0.9677	0.37673	T	0.024	0.10284	T	10	0.041511536	0.02813	T	0.004769	0.11910	T	0.106	0.30130	0.574	0.69826	0.0138822411134	0.00435	0.3262255057019932	0.32535	0.0197064282683	0.01935	0.279681921005	0.07448	T	0.08742	0.37938	T	-0.542315	0.00325	T	-0.737339	0.04004	T	0.00842510729797714	0.00102	T	0.681032	0.28992	T	0.023225108	0.01044	0.050841182	0.08060	0.023225108	0.01044	0.050841182	0.08059	-5.583	0.42637	T	.	.	0.054	0.01577	B	.;.;.;.;.	.;.;.;.;.	0.255365	0.06345	2.805	0.52032298705829227	0.04672	0.27514	0.23299	N	AEFBI	0.045398	0.07421	N	-1.31125786433744	0.03545	0.15856	-1.29308935346557	0.04523	0.2135455	0.997654046790871	0.35867	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	4.06	-6.62	0.01646	0.168000	0.16438	-3.774000	0.02546	-0.194000	0.09177	0.970000	0.34288	0.000000	0.08366	0.977000	0.56843	0.0:0.5419:0.0:0.4581	11.696	0.50810	922	0.19044	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	825.33	33	chr4	103066356	.	T	C	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.282;DP=692;ExcessHet=0;FS=1.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.064;SOR=1.011	GT:AD:DP:GQ:PL	0/1:35,31:66:99:839,0,959	18	0	1	0
chr4	119271709	119271709	C	T	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.C1696T:p.P566S,USP53:NM_001371397:exon14:c.C1849T:p.P617S,USP53:NM_001371399:exon14:c.C1849T:p.P617S,USP53:NM_001371398:exon15:c.C1849T:p.P617S,USP53:NM_019050:exon15:c.C1849T:p.P617S,USP53:NM_001371395:exon16:c.C1849T:p.P617S	.	436	1068	18	0	0	18	0.00835655	.	.	.	720732	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0035	0.00159744	0.0040	0.0008	0.0067	0	0.0006	0.0050	0.0123	0.0029	0.0038421	594	154602	rs147140509	0.0045	0.0045	0.0045	0.0045	0.0113	0.0044	0.0044	0.0091	0.0083	0.0010	0.0038	0.0056	0	0.0014	0.0113	0.0049	0.0050	0.0034	0.0029	0.0029	0.0032	0.0026	0.0044	0.0027	0.0026	0.0040	0.0039	0.0009	0	0.0022	0.0058	0	0.0013	0.0411	0.0044	0.0038	0.0031	0.41	0.10148	T	0.959	0.02555	T	0.003	0.11197	B	0.003	0.08700	B	0.395286	0.13199	N	0.719952	1	0.08975	N	1.12	0.28775	L	2.46	0.14907	T	-1.24	0.31375	N	0.055	0.02658	-0.9613	0.38936	T	0.016	0.06425	T	10	0.0031200051	0.00052	T	.	.	.	0.032	0.07718	.	.	0.307332253619	0.30352	0.07958141728897741	0.07893	0.138693011679	0.15641	0.240512296557	0.02837	T	0.00409	0.03502	T	-0.68941	0.00042	T	-0.761975	0.03042	T	0.000688057911694963	0.00006	T	0.584642	0.21276	T	0.01913809	0.00439	0.023445774	0.00358	0.01913809	0.00439	0.023445774	0.00357	-2.689	0.07211	T	.	.	0.077	0.06433	B	.;.	.;.	-0.276737	0.02721	0.359	0.57365281913069399	0.05753	0.10011	0.15632	N	AEFBI	0.078094	0.15749	N	-1.25241476748835	0.04267	0.1922847	-1.2491995289293	0.05143	0.2443526	0.944076082587791	0.27599	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.58	-1.71	0.07696	0.011000	0.13162	0.378000	0.17749	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.551000	0.30197	0.108:0.4076:0.2139:0.2705	2.575	0.04513	546	0.72524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.005051	0.006793	0.014620	0.000000	0.025862	0.012195	0.007576	0.07895	6429.79	33	chr4	119271709	.	C	T	6429.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.803;DP=1112;ExcessHet=0.3672;FS=0.517;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.183;SOR=0.649	GT:AD:DP:GQ:PL	0/1:87,86:173:99:2293,0,2366	16	0	3	0
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L,PABPC4L:NM_001363585:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	413.71	163	chr4	134200395	.	C	G	413.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-5.093;DP=2327;ExcessHet=0;FS=309.42;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=2.96;SOR=8.713	GT:AD:DP:GQ:PL	0/1:144,64:221:99:427,0,2440	17	0	1	1
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,50:122:99:0|1:140563137_C_G:693,0,2177:140563137	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,50:122:99:0|1:140563137_C_G:693,0,2177:140563137	1	0	18	0
chr4	146442743	146442743	G	C	exonic	SLC10A7	.	nonsynonymous SNV	SLC10A7:NM_032128:exon5:c.C475G:p.L159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00886777179864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.36	0.13035	N	0.233	0.26233	-1.0093	0.27136	T	0.052	0.21921	T	7	0.06724501	0.09342	T	0.008868	0.23390	T	0.027	0.05988	0.468	0.54052	0.0551355673512	0.04727	.	.	.	.	.	.	.	.	.	.	-0.274146	0.11299	T	-0.631568	0.10296	T	0.0675880426437943	0.08309	T	0.205079	0.02403	T	.	.	.	.	.	.	.	.	-3.603	0.17900	T	.	.	0.103	0.18289	B	.	.	0.034547	0.04527	1.223	0.53820714627003785	0.05014	0.07888	0.13878	N	AEFBCI	0.079812	0.16126	N	-1.18768939793637	0.05185	0.2357941	-1.28976330318613	0.04568	0.2157573	0.999850061185884	0.44174	0.475973	0.10046	0	0.601575	0.49859	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.05	-7.45	0.01229	0.658000	0.24662	1.343000	0.25751	-0.110000	0.15115	0.000000	0.06391	0.111000	0.22795	0.479000	0.28543	0.157:0.2028:0.4733:0.167	2.812	0.05111	707	0.57054	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	895.33	34	chr4	146442743	.	G	C	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.156;DP=704;ExcessHet=0;FS=2.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.27;SOR=0.603	GT:AD:DP:GQ:PL	0/1:48,40:88:99:909,0,1153	18	0	1	0
chr4	173009229	173009229	G	A	exonic	GALNTL6	.	nonsynonymous SNV	GALNTL6:NM_001034845:exon11:c.G1423A:p.G475R	.	.	.	.	.	.	.	.	.	.	.	2251447	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.591	0.108753307414	7.7e-05	.	4.119e-05	0	0	0	0	1.498e-05	0	0.0002	3.23e-05	5	154602	rs137921635	2.6e-05	2.599e-05	1.634e-05	3.575e-05	0.0003	1.932e-05	1.692e-05	0.0002	0.0001	0	4.472e-05	0	2.519e-05	0	0.0002	1.079e-05	0	0.0003	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	0.092	0.31682	T	0.162	0.31225	T	1.0	0.90584	D	0.956	0.69739	D	0.013823	0.28718	N	0.297943	0.999997	0.58761	D	2.435	0.70606	M	-1.49	0.81235	T	-1.31	0.34795	N	0.801	0.82458	0.314	0.87780	D	0.632	0.87098	D	10	0.60034883	0.66877	D	0.108753	0.78543	D	0.591	0.83691	0.678	0.81594	0.649488580756	0.64657	0.7917796178389209	0.79129	1.54196274361	0.87728	0.82482278347	0.85768	D	0.038536	0.24874	T	-0.133965	0.30855	T	-0.134016	0.60632	T	0.340466350962774	0.26642	T	0.962554	0.86020	D	0.13629156	0.31601	0.15296629	0.35965	0.13629156	0.31601	0.15296629	0.35965	-7.954	0.62848	D	.	.	0.903	0.82973	P	.;.;.	.;.;.	5.460006	0.91156	32	0.99217911938853554	0.55808	0.85629	0.44782	D	AEFGCI	0.633783	0.61390	D	0.244426067117685	0.53364	3.505565	0.124652390470189	0.45813	2.837885	0.999807048089623	0.43304	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	5.55	4.71	0.59010	7.272000	0.77907	11.689000	0.94328	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.145000	0.20128	0.0728:0.0:0.9272:0.0	14.215	0.65334	952	0.10565	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain;.;Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2010.33	33	chr4	173009229	.	G	A	2010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=793;ExcessHet=0;FS=2.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.515;SOR=0.944	GT:AD:DP:GQ:PL	0/1:75,78:153:99:2024,0,1735	18	0	1	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,26:95:99:0|1:176711631_G_C:199,0,2152:176711631	4	0	14	1
chr4	184009557	184009557	G	A	exonic	STOX2	.	nonsynonymous SNV	STOX2:NM_020225:exon3:c.G719A:p.S240N	.	430	1051	40	1	0	42	0.0195896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0012	0.00419329	0.0043	0.0002	0.0010	0.0001	0	0.0021	0.0034	0.0220	0.0037257	576	154602	rs200837182	0.0024	0.0024	0.0017	0.0031	0.0214	0.0023	0.0023	0.0206	0.0203	0.0002	0.0004	0.0147	2.519e-05	1.873e-05	0.0085	0.0009	0.0030	0.0214	0.0016	0.0016	0.0014	0.0019	0.0228	0.0015	0.0014	0.0193	0.0180	0.0001	0	0.0006	0.0121	0	0	0.0068	0.0011	0.0019	0.0228	0.046	0.40573	D	0.06	0.45744	T	0.987	0.61912	D	0.914	0.64984	D	0.000000	0.84330	D	0.120721	0.999848	0.49770	D	0.77	0.19370	N	-0.26	0.67187	T	-0.26	0.11185	N	0.696	0.70088	0.009	0.82435	D	0.496	0.80922	T	10	0.008596331	0.00195	T	.	.	.	0.261	0.57352	.	.	0.043077524339	0.03247	0.4272749328916834	0.42644	0.249684338131	0.27551	0.714204072952	0.69203	T	0.031042	0.21860	T	-0.385948	0.02856	T	-0.310908	0.43562	T	0.0377309019268772	0.03285	T	0.864214	0.56114	D	0.23295368	0.46092	0.23893042	0.49229	0.23295368	0.46092	0.23893042	0.49228	-6.718	0.51946	T	.	.	0.144	0.31808	B	.	.	3.812763	0.55007	23.6	0.99475083901262606	0.66579	0.99082	0.90959	D	AEFDBI	0.775595	0.70896	D	0.684559070834123	0.78620	6.908547	0.726427081052459	0.84383	8.277275	0.999999136482115	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	6.678000	0.74342	11.604000	0.93497	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.698	0.96034	858	0.34001	.	.	.	.	.	.	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	0.007049	0.000000	0.002717	0.002924	0.000000	0.008621	0.009146	0.022727	0.05263	5288.83	68	chr4	184009557	.	G	A	5288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.2;DP=1859;ExcessHet=0.119;FS=1.665;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.534;SOR=0.606	GT:AD:DP:GQ:PL	0/1:88,105:193:99:2709,0,2352	17	0	2	0
chr4	185459161	185459161	A	C	exonic	CCDC110	.	nonsynonymous SNV	CCDC110:NM_001145411:exon5:c.T1315G:p.Y439D,CCDC110:NM_152775:exon6:c.T1426G:p.Y476D	.	500	1020	1	1	0	3	0.00146843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0022	0.00379393	0.0022	0.0004	0.0009	0	0.0005	0.0014	0.0022	0.0089	0.0021539	333	154602	rs34396844	0.0023	0.0024	0.0022	0.0025	0.0092	0.0023	0.0023	0.0086	0.0084	0.0002	0.0007	3.915e-05	0	0.0004	0.0025	0.0022	0.0026	0.0092	0.0017	0.0017	0.0017	0.0016	0.0099	0.0015	0.0015	0.0077	0.0069	0.0004	0.0340	0.0009	0	0	0.0003	0	0.0021	0.0014	0.0099	0.005	0.63226	D	0.19	0.31527	T	0.985	0.61118	D	0.859	0.61184	P	0.011273	0.29595	N	0.239717	0.989713	0.24262	N	2.33	0.66821	M	2.22	0.18875	T	-2.81	0.59389	D	0.652	0.66272	-1.0925	0.05128	T	0.060	0.25273	T	10	0.0075873733	0.00172	T	.	.	.	0.092	0.26621	.	.	0.305730143919	0.30178	0.18753886358063476	0.18671	0.497085312296	0.48199	0.536832928658	0.43999	T	0.054404	0.33226	T	-0.409203	0.02012	T	-0.353177	0.38842	T	0.0354245026902922	0.02880	T	0.726327	0.34071	T	0.20460619	0.42576	0.22461562	0.47380	0.20460619	0.42576	0.22461562	0.47378	-5.132	0.38242	T	.	.	0.277	0.54933	B	.;.;.	.;.;.	2.994961	0.39995	21.1	0.99084004268939263	0.52051	0.86472	0.45759	D	AEFDGI	0.188985	0.31625	N	0.246520957806076	0.53466	3.515413	0.189351568928819	0.49261	3.131562	0.999676281447928	0.41644	0.554377	0.28877	0	0.626922	0.53725	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.63	3.23	0.36150	1.807000	0.38540	4.106000	0.41892	0.756000	0.94297	0.884000	0.31069	0.997000	0.33255	0.999000	0.91618	0.8359:0.0:0.1641:0.0	8.027	0.29601	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1744.33	70	chr4	185459161	.	A	C	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=2037;ExcessHet=0;FS=3.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.556;SOR=0.997	GT:AD:DP:GQ:PL	0/1:104,68:172:99:1758,0,2619	18	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.1389	276.26	16	chr4	189953101	.	C	T	276.26	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.497;DP=358;ExcessHet=1.3;FS=1.238;InbreedingCoeff=-0.1694;MLEAC=5;MLEAF=0.139;MQ=55.06;MQRankSum=-2.435;QD=3.54;ReadPosRankSum=0.592;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:99:0|1:189953101_C_T:108,0,828:189953101	13	0	5	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	307.42	14	chr4	189953126	.	G	T	307.42	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.732;DP=321;ExcessHet=1.3;FS=2.88;InbreedingCoeff=-0.1524;MLEAC=5;MLEAF=0.132;MQ=54.21;MQRankSum=-2.222;QD=4.59;ReadPosRankSum=1.2;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:99:0|1:189953101_C_T:108,0,828:189953101	14	0	5	0
chr5	886722	886722	T	C	exonic	BRD9	.	nonsynonymous SNV	BRD9:NM_001317951:exon7:c.A415G:p.M139V,BRD9:NM_001375861:exon7:c.A763G:p.M255V,BRD9:NM_001375862:exon7:c.A763G:p.M255V,BRD9:NM_001375863:exon7:c.A769G:p.M257V,BRD9:NM_001375877:exon7:c.A763G:p.M255V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0368179920128	0.0002	.	0.0002	9.623e-05	0	0	0	0.0003	0	6.057e-05	0.0001423	22	154602	rs372148233	3.352e-05	3.352e-05	2.45e-05	4.263e-05	4.047e-05	2.566e-05	2.312e-05	3.085e-05	2.753e-05	0	0	0	0	3.749e-05	0	4.047e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.07	0.35349	T	.	.	.	.	.	.	.	.	.	0.000973	0.40836	N	0.134947	1	0.81001	D	.	.	.	1.39	0.33842	T	-0.56	0.17003	N	.	.	-1.0890	0.05701	T	0.057	0.23904	T	8	0.1021342	0.18703	T	0.036818	0.57230	D	0.039	0.10176	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.360642	0.04094	T	-0.481514	0.24285	T	0.152596294879913	0.17308	T	0.649735	0.26051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.45372	B	.	.	1.873071	0.23790	16.15	0.97782121485233564	0.35938	0.96854	0.71299	D	AEFDBCI	0.709246	0.66340	D	-0.161932523107573	0.34728	1.985837	-0.0171929354622074	0.38939	2.301336	0.999999723286762	0.74766	0.562547	0.31514	0	0.552637	0.17590	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.52	3.15	0.35301	5.793000	0.68709	0.625000	0.20170	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1461:0.0:0.8539	9.381	0.37476	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1013.33	39	chr5	886722	.	T	C	1013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.843;DP=721;ExcessHet=0;FS=2.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.042;SOR=0.412	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1027,0,1071	18	0	1	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) 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	.	.	.	.	.	.	.	.	0.05263	72.83	45	chr5	14397101	.	T	C	72.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.867;DP=768;ExcessHet=0.119;FS=67.498;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=-0.18;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,9:62:30:0|1:14397101_T_C:30,0,1974:14397101	17	0	2	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) 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	.	.	.	.	.	.	.	.	0.05263	72.83	45	chr5	14397102	.	G	A	72.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.791;DP=779;ExcessHet=0.119;FS=67.498;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=-0.132;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,9:62:30:0|1:14397101_T_C:30,0,1974:14397101	17	0	2	0
chr5	16616940	16616940	T	C	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_001034850:exon1:c.A32G:p.E11G	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	20	1498	4	0	0	4	0.00133333	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0276599936062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290549319	9.929e-06	1.094e-05	3.009e-06	1.707e-05	0.0003	5.54e-06	4.27e-06	4.67e-06	1.79e-06	0	0	4.393e-05	0	0	0.0003	6.704e-06	3.694e-05	2.817e-05	1.318e-05	1.314e-05	1.289e-05	1.35e-05	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	0.201	0.20306	T	0.102	0.38450	T	0.007	0.14184	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.88	0.46028	T	-0.3	0.11913	N	0.088	0.06587	-1.0432	0.16354	T	0.057	0.24055	T	9	0.042771906	0.03059	T	0.02766	0.50443	D	0.031	0.07369	0.138	0.04187	0.222439326576	0.21863	0.21468380341539833	0.21384	0.383060986357	0.39643	0.721532702446	0.70270	T	0.005569	0.05022	T	-0.349628	0.04750	T	-0.739993	0.03891	T	0.0271434536664232	0.01564	T	0.337066	0.07215	T	0.044057857	0.06977	0.14761849	0.34926	0.044057857	0.06977	0.14761849	0.34926	-3.994	0.23714	T	.	.	0.079	0.07177	B	.	.	1.092366	0.14763	11.30	0.60093642355988997	0.06380	0.01560	0.05104	N	ALL	0.036618	0.04908	N	-1.8876281065581	0.00364	0.01564063	-1.98505600893343	0.00329	0.01453772	0.999999999929318	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	2.96	-5.93	0.02067	-1.285000	0.02899	-1.435000	0.05446	-0.243000	0.07376	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.643:0.357	12.711	0.56462	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	63.33	30	chr5	16616940	.	T	C	63.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.387;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.52;ReadPosRankSum=0.797;SOR=0.193	GT:AD:DP:GQ:PL	0/1:14,4:18:77:77,0,436	18	0	1	0
chr5	24537491	24537491	G	C	exonic	CDH10	.	nonsynonymous SNV	CDH10:NM_001317224:exon3:c.C415G:p.P139A,CDH10:NM_001362460:exon3:c.C415G:p.P139A,CDH10:NM_006727:exon3:c.C415G:p.P139A	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0126616123945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.322	0.19016	T	0.113	0.26349	B	0.089	0.29769	B	0.000007	0.62929	D	0.107767	0.994282	0.42226	D	1.345	0.33447	L	0.51	0.55439	T	-5.6	0.86608	D	0.237	0.26717	-0.9879	0.33126	T	0.132	0.44406	T	10	0.24970314	0.42286	T	0.012662	0.31427	T	0.171	0.43483	0.467	0.53891	0.657421573829	0.65455	0.3352004469086272	0.33433	1.21055628116	0.80829	0.684688329697	0.64942	T	0.216898	0.57919	T	-0.0909905	0.37913	T	-0.368478	0.37066	T	0.971937298774719	0.69505	D	0.874613	0.58533	D	0.29825673	0.52748	0.3812111	0.63135	0.29825673	0.52747	0.3812111	0.63135	-5.656	0.43300	T	.	.	0.125	0.26388	B	.	.	4.147594	0.62187	24.4	0.98174099968490525	0.38882	0.94283	0.60675	D	AEFI	0.655665	0.62792	D	0.111964081183095	0.47020	2.933682	0.321063892368563	0.56778	3.84183	0.999921944581713	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	5.305000	0.65541	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.080	0.93160	783	0.47268	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	.	.	.	.	.	.	.	.	0.02632	1360.33	45	chr5	24537491	.	G	C	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.184;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.329;SOR=0.652	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1374,0,1642	18	0	1	0
chr5	26885688	26885688	T	C	exonic	CDH9	.	nonsynonymous SNV	CDH9:NM_016279:exon11:c.A1808G:p.E603G	.	436	1056	30	0	0	30	0.0140056	.	.	.	699060	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.307	.	0.0052	0.00559105	0.0069	0.0009	0.0049	0.0002	0.0014	0.0083	0.0145	0.0114	0.0066429	1027	154602	rs34490509	0.0070	0.0070	0.0068	0.0073	0.0146	0.0069	0.0069	0.0121	0.0111	0.0007	0.0056	0.0046	7.56e-05	0.0024	0.0146	0.0075	0.0060	0.0115	0.0059	0.0059	0.0057	0.0060	0.0094	0.0055	0.0054	0.0082	0.0080	0.0015	0.0011	0.0094	0.0035	0.0004	0.0018	0.0034	0.0088	0.0081	0.0077	0.045	0.40832	D	0.156	0.31833	T	0.384	0.34453	B	0.451	0.46123	P	0.000079	0.52346	D	0.198141	0.999973	0.53665	D	2.295	0.65404	M	0.39	0.57419	T	-5.79	0.88065	D	0.736	0.73645	-0.7572	0.57556	T	0.181	0.52858	T	9	0.0105982125	0.00235	T	.	.	.	0.307	0.62838	.	.	0.49019323153	0.48651	0.7201756368752278	0.71960	0.604623075721	0.55391	0.440794110298	0.30685	T	0.160275	0.50405	T	-0.316683	0.07173	T	-0.216639	0.53061	T	0.0607416384655104	0.07285	T	0.859214	0.55036	D	0.3318728	0.55624	0.36143115	0.61567	0.3318728	0.55624	0.36143115	0.61567	-9.676	0.71950	D	.	.	0.259	0.49334	B	.	.	3.902883	0.56863	23.8	0.99848921927984158	0.92838	0.98369	0.82077	D	AEFGI	0.949439	0.96208	D	0.24730265959893	0.53504	3.51911	0.262897908325892	0.53386	3.507883	0.99998222151497	0.51787	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.89	5.89	0.94758	7.980000	0.87715	6.206000	0.54953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	0.0:0.0:0.0:1.0	15.135	0.72233	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.000000	0.010870	0.017544	0.000000	0.008621	0.024390	0.007576	0.02632	969.33	33	chr5	26885688	.	T	C	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.929;DP=704;ExcessHet=0;FS=0.9;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.386;SOR=0.504	GT:AD:DP:GQ:PL	0/1:57,34:91:99:983,0,1640	18	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	434.77	112	chr5	36976312	.	G	C	434.77	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.913;DP=2363;ExcessHet=0.7564;FS=233.054;InbreedingCoeff=-0.3099;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=1.42;SOR=10.893	GT:AD:DP:GQ:PL	0/1:100,34:137:99:197,0,2006	5	0	4	10
chr5	52945020	52945020	C	A	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon27:c.C3363A:p.S1121R	.	444	1057	20	1	0	22	0.0102996	.	.	.	721474	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.064	.	0.0057	0.00539137	0.0072	0.0012	0.0019	0.0019	0.0127	0.0084	0.0121	0.0102	0.0072056	1114	154602	rs151102756	0.0082	0.0082	0.0080	0.0083	0.0098	0.0080	0.0080	0.0092	0.0090	0.0013	0.0020	0.0023	0.0008	0.0120	0.0052	0.0088	0.0062	0.0098	0.0058	0.0058	0.0057	0.0059	0.0102	0.0055	0.0054	0.0083	0.0081	0.0018	0	0.0012	0.0020	0.0012	0.0108	0	0.0089	0.0038	0.0102	0.208	0.19782	T	0.045	0.49390	D	0.136	0.27347	B	0.017	0.18140	B	0.041512	0.23942	N	0.515513	0.859682	0.28374	N	1.1	0.28011	L	0.79	0.49068	T	-0.81	0.22294	N	0.22	0.24634	-1.1030	0.03747	T	0.039	0.16634	T	10	0.005416006	0.00119	T	.	.	.	0.064	0.18567	0.354	0.35408	0.498259528926	0.49460	0.44795778726247065	0.44713	0.184186325535	0.20715	0.357897281647	0.19079	T	0.054622	0.29777	T	-0.545348	0.00311	T	-0.54817	0.17501	T	0.0266211991136167	0.01491	T	0.652235	0.26282	T	0.07397097	0.16567	0.05098772	0.08114	0.07397097	0.16567	0.05098772	0.08113	-4.82	0.34823	T	.	.	0.217	0.44745	B	.	.	2.001094	0.25425	16.76	0.98561422426639278	0.42986	0.18904	0.20449	N	AEFDBI	0.104861	0.20969	N	-0.54948648376452	0.20500	1.081116	-0.432061412372852	0.24062	1.315583	0.999592032345798	0.40745	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.404113	0.06833	1	.	.	5.63	0.424	0.15684	-0.165000	0.09957	0.386000	0.17834	0.599000	0.40250	0.945000	0.32849	0.993000	0.31925	0.997000	0.79791	0.2824:0.337:0.1371:0.2434	0.543	0.00605	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.000000	0.008152	0.008772	0.000000	0.000000	0.015244	0.015152	0.05263	2658.83	33	chr5	52945020	.	C	A	2658.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.756;DP=830;ExcessHet=0.119;FS=3.135;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.98;SOR=0.948	GT:AD:DP:GQ:PL	0/1:52,39:91:99:973,0,1330	17	0	2	0
chr5	53483680	53483680	G	C	exonic	FST	.	nonsynonymous SNV	FST:NM_006350:exon3:c.G454C:p.E152Q,FST:NM_013409:exon3:c.G454C:p.E152Q	.	425	1080	16	1	0	18	0.00826446	.	.	.	721476	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	0.0241769684911	0.0059	0.00179712	0.0045	0.0008	0.0010	0	0.0089	0.0067	0.0033	0.0007	0.0043919	679	154602	rs11745088	0.0056	0.0056	0.0058	0.0055	0.0063	0.0055	0.0055	0.0062	0.0062	0.0005	0.0015	0.0051	2.519e-05	0.0110	0.0061	0.0063	0.0052	0.0006	0.0043	0.0043	0.0044	0.0041	0.0063	0.0040	0.0039	0.0058	0.0056	0.0006	0	0.0021	0.0052	0.0002	0.0119	0.0136	0.0063	0.0043	0.0002	0.464	0.09514	T	0.37	0.16473	T	0.348	0.33602	B	0.147	0.34014	B	0.000000	0.84330	D	0.047074	0.999996	0.58761	D	-0.465	0.02725	N	3.71	0.04046	T	0.13	0.05503	N	0.286	0.32370	-0.7316	0.58882	T	0.007	0.02399	T	10	0.0072375834	0.00165	T	0.024177	0.47165	T	0.249	0.55752	.	.	0.514671000977	0.51109	0.4039563713797913	0.40311	1.09766738397	0.77629	0.51988941431	0.41611	T	0.202543	0.56075	T	-0.506073	0.00528	T	-0.494869	0.22882	T	0.0576691014953399	0.06797	T	0.784922	0.77539	T	0.41348022	0.61655	0.35712525	0.61211	0.41348022	0.61656	0.35712525	0.61211	-3.422	0.15395	T	.	.	0.1	0.17146	B	.;.;.	.;.;.	3.520150	0.49340	22.8	0.98722578926768989	0.45230	0.99252	0.93473	D	AEFDBCI	0.960724	0.98167	D	0.0491711700034256	0.44105	2.690619	0.280021017350146	0.54374	3.602582	1.0	0.98316	0.660085	0.49399	0	0.563428	0.19063	0	0.662677	0.59975	0	0.530356	0.10902	0	.	.	5.76	5.76	0.90726	9.757000	0.98114	9.862000	0.82064	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.970	0.97283	852	0.35056	Kazal domain|Kazal domain|Kazal domain;.;Kazal domain|Kazal domain|Kazal 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	0.005539	0.010101	0.006793	0.011696	0.000000	0.000000	0.006098	0.007576	0.05263	2404.83	33	chr5	53483680	.	G	C	2404.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.68;DP=802;ExcessHet=0.119;FS=2.456;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.576;SOR=0.88	GT:AD:DP:GQ:PL	0/1:69,42:111:99:985,0,1852	17	0	2	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	920.7	35	chr5	75118147	.	C	T	920.7	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.889;DP=1710;ExcessHet=1.3;FS=99.544;InbreedingCoeff=-0.1753;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.07;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,21:151:70:0|1:75118147_C_T:70,0,4456:75118147	13	0	5	1
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,18:102:94:.:.:94,0,1944:.	9	0	10	0
chr5	75597756	75597756	G	A	exonic	POLK	.	nonsynonymous SNV	POLK:NM_001345921:exon13:c.G2297A:p.S766N,POLK:NM_016218:exon14:c.G2495A:p.S832N,POLK:NM_001345922:exon15:c.G2225A:p.S742N	.	485	1020	14	3	0	20	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0008	0.00419329	0.0038	0	0.0011	0	0.0006	0.0017	0.0033	0.0199	0.0033247	514	154602	rs5744716	0.0017	0.0019	0.0013	0.0022	0.0182	0.0017	0.0017	0.0174	0.0170	0.0002	0.0013	0.0090	0	0.0005	0.0088	0.0006	0.0026	0.0182	0.0017	0.0017	0.0013	0.0022	0.0224	0.0015	0.0015	0.0190	0.0177	9.626e-05	0	0.0022	0.0072	0	0.0005	0	0.0011	0.0038	0.0224	1.0	0.02913	T	0.437	0.13441	T	0.012	0.17989	B	0.01	0.21939	B	0.694412	0.06165	N	1.131130	0.997179	0.22763	N	1.59	0.40313	L	1.2	0.56446	T	-0.29	0.11728	N	0.085	0.19593	-0.9870	0.33347	T	0.102	0.37568	T	10	0.0033051372	0.00057	T	.	.	.	0.091	0.26358	.	.	0.590817377016	0.58758	0.09171396030080677	0.09104	0.065937270336	0.07352	0.267375230789	0.05801	T	0.043957	0.26664	T	-0.53052	0.00381	T	-0.520552	0.20239	T	0.0273213745906902	0.01590	T	0.540746	0.19218	T	0.032831915	0.03383	0.055723697	0.09829	0.03630921	0.04440	0.046658907	0.06551	-5.346	0.41464	T	0.2048618929308293	0.27316	0.072	0.12607	B	.;.	.;.	0.966896	0.13438	9.945	0.9859082223313187	0.43375	0.13196	0.17718	N	AEFBI	0.055721	0.10242	N	-0.526963593773139	0.21211	1.124043	-0.508908841069037	0.21910	1.18756	0.948342260403034	0.27796	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.47	4.47	0.53770	-0.004000	0.12813	0.607000	0.19990	-0.106000	0.15538	0.000000	0.06391	0.142000	0.23101	0.331000	0.25224	0.0:0.0:1.0:0.0	14.210	0.65298	875	0.30485	.;.	.	.	.	.	.	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	0.008603	0.000000	0.006793	0.002959	0.000000	0.008621	0.006135	0.022901	0.02632	388.33	28	chr5	75597756	.	G	A	388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.922;DP=508;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-1.59;SOR=1.061	GT:AD:DP:GQ:PL	0/1:14,17:31:99:402,0,286	18	0	1	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	.	.	.	.	.	.	.	.	0.301	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	.	.	.	.	.	Likely benign	0	0	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	0.028701	0.005051	0.036685	0.061404	0.050000	0.051724	0.024390	0.007576	0.05263	2593.83	33	chr5	79758776	.	C	T	2593.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.47;DP=828;ExcessHet=0.119;FS=0.482;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.287;SOR=0.743	GT:AD:DP:GQ:PL	0/1:73,64:137:99:1595,0,1724	17	0	2	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1959.77	54	chr5	80654889	.	TGCAGCGGCC	*	1959.77	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.317;DP=1361;ExcessHet=1.7862;FS=1.139;InbreedingCoeff=-0.0523;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=-0.052;SOR=0.811	GT:AD:DP:GQ:PL	1/0:0,33:52:99:1762,463,1002	10	1	8	0
chr5	87401730	87401730	G	C	exonic	CCNH	.	nonsynonymous SNV	CCNH:NM_001199189:exon6:c.C573G:p.C191W,CCNH:NM_001239:exon6:c.C732G:p.C244W,CCNH:NM_001363539:exon6:c.C732G:p.C244W,CCNH:NM_001364075:exon6:c.C732G:p.C244W,CCNH:NM_001364076:exon6:c.C573G:p.C191W	.	602	919	1	0	0	1	0.000543774	.	.	.	2204967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.00938672494283	.	.	0.0001	0	0.0001	0	0	1.935e-05	0	0.0007	7.76e-05	12	154602	rs750525738	6.954e-05	7.593e-05	4.843e-05	9.087e-05	0.0009	5.808e-05	5.414e-05	0.0007	0.0007	0	0	0	0	0	0.0005	1.361e-05	0.0001	0.0009	3.953e-05	3.944e-05	1.287e-05	6.748e-05	0.0008	1.719e-05	1.132e-05	0.0003	0.0002	0	0	6.557e-05	0	0	0	0	1.472e-05	0	0.0008	0.021	0.49117	D	0.196	0.27943	T	0.623	0.39993	P	0.071	0.27960	B	0.016548	0.27949	N	0.411772	0.999945	0.51968	D	1.61	0.41143	L	0.88	0.46028	T	-1.52	0.36980	N	0.556	0.58543	-1.0071	0.27819	T	0.070	0.28642	T	10	0.16763073	0.31268	T	0.009387	0.24623	T	0.072	0.21020	0.477	0.55502	0.652220884204	0.64932	.	.	0.371723212571	0.38671	0.469582855701	0.34622	T	0.015242	0.13680	T	-0.361691	0.04035	T	-0.362479	0.37765	T	0.0989074558019638	0.12237	T	0.858314	0.54891	D	0.23722918	0.46584	0.24669379	0.50185	0.23722918	0.46584	0.24669379	0.50184	-7.49	0.57540	T	.	.	0.188	0.40554	B	.;.;.	.;.;.	3.184329	0.43240	21.7	0.98734925075314095	0.45408	0.92258	0.55299	D	AEFBI	0.573235	0.57650	D	0.0833034059479651	0.45685	2.820883	0.187665516611671	0.49169	3.123481	0.999999065458519	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.0	3.87	0.43823	0.933000	0.28497	3.181000	0.36657	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1187:0.0:0.8813:0.0	12.127	0.53223	581	0.69614	Cyclin, C-terminal domain 2;Cyclin, C-terminal domain 2;Cyclin, C-terminal domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	682.33	34	chr5	87401730	.	G	C	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.166;DP=658;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.382;SOR=0.824	GT:AD:DP:GQ:PL	0/1:21,31:52:99:696,0,519	18	0	1	0
chr5	94537095	94537095	G	A	exonic	KIAA0825	.	nonsynonymous SNV	KIAA0825:NM_001145678:exon3:c.C32T:p.S11F,KIAA0825:NM_001385713:exon3:c.C32T:p.S11F,KIAA0825:NM_001385714:exon3:c.C32T:p.S11F,KIAA0825:NM_001385717:exon3:c.C32T:p.S11F,KIAA0825:NM_001385718:exon3:c.C32T:p.S11F,KIAA0825:NM_001385723:exon3:c.C32T:p.S11F,KIAA0825:NM_173665:exon3:c.C32T:p.S11F,KIAA0825:NM_001385712:exon4:c.C32T:p.S11F,KIAA0825:NM_001385716:exon4:c.C32T:p.S11F,KIAA0825:NM_001385722:exon4:c.C32T:p.S11F,KIAA0825:NM_001385728:exon4:c.C32T:p.S11F,KIAA0825:NM_001385729:exon4:c.C32T:p.S11F,KIAA0825:NM_001385719:exon5:c.C32T:p.S11F,KIAA0825:NM_001385720:exon5:c.C32T:p.S11F,KIAA0825:NM_001385721:exon5:c.C32T:p.S11F,KIAA0825:NM_001385730:exon5:c.C32T:p.S11F,KIAA0825:NM_001385715:exon6:c.C32T:p.S11F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0416032752764	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264353147	2.743e-06	2.737e-06	0	5.514e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	0	4.979e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.92824	D	0.989	0.62824	D	0.884	0.62825	P	0.440642	0.04758	N	1.260800	0.95233	0.37780	D	2.585	0.75554	M	0.72	0.51228	T	-1.21	0.67589	N	0.769	0.76666	-0.7656	0.57099	T	0.307	0.67795	T	10	0.7273606	0.74064	D	0.041603	0.60019	D	0.214	0.50650	0.351	0.34922	0.490489133298	0.48683	0.04918926752776578	0.04861	0.298148885275	0.32199	0.451902508736	0.32204	T	0.040754	0.25632	T	0.183357	0.72352	D	0.0256034	0.71993	D	0.958711743354797	0.65343	D	0.838216	0.51127	T	0.2602933	0.49085	0.30740085	0.56762	0.2602933	0.49084	0.30740085	0.56761	-4.093	0.28205	T	.	.	0.184	0.45433	B	.;.	.;.	4.201595	0.63402	24.6	0.99822269968045096	0.90502	0.94794	0.62352	D	AEFI	0.658844	0.62997	D	0.654887054497923	0.76686	6.532534	0.658552636542365	0.79250	7.042695	0.996419580284824	0.34729	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.49	5.49	0.81022	4.593000	0.60743	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.913	0.88858	886	0.28090	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1111.33	34	chr5	94537095	.	G	A	1111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=2.6;SOR=0.627	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1125,0,1374	18	0	1	0
chr5	94691617	94691617	C	A	exonic	SLF1	.	nonsynonymous SNV	SLF1:NM_032290:exon19:c.C2473A:p.L825I	.	.	.	.	.	.	.	.	.	.	.	4078457	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00983622348236	.	.	5.816e-05	9.726e-05	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs775722366	2.604e-05	2.736e-05	2.045e-05	3.168e-05	0.0003	1.936e-05	1.695e-05	0.0002	0.0002	3.004e-05	0	0	0	0	0	5.399e-06	3.317e-05	0.0003	3.947e-05	3.94e-05	1.287e-05	6.727e-05	0.0008	1.717e-05	1.13e-05	0.0003	0.0002	2.414e-05	0	0	0	0	0	0	1.471e-05	0	0.0008	0.345	0.12511	T	0.388	0.15602	T	0.002	0.09854	B	0.004	0.10090	B	0.554582	0.11400	N	0.791327	0.996765	0.22909	N	.	.	.	-0.32	0.68181	T	-0.44	0.14588	N	0.308	0.34767	-1.0383	0.17832	T	0.121	0.42187	T	10	0.04227063	0.02961	T	0.009836	0.25653	T	0.083	0.24192	0.587	0.71497	0.451310735921	0.44754	0.1484463257268841	0.14766	0.0746676585319	0.08380	0.351512789726	0.18144	T	0.086386	0.37712	T	-0.37184	0.03502	T	-0.447956	0.27924	T	0.017876712987455	0.00514	T	0.541546	0.18382	T	0.050485283	0.09128	0.031748105	0.01808	0.050485283	0.09127	0.031748105	0.01808	-4.564	0.31716	T	.	.	0.073	0.04681	B	.	.	0.872004	0.12449	8.982	0.8943084052534872	0.18791	0.80070	0.39808	D	AEFBI	0.121773	0.23660	N	-0.800741984136653	0.13291	0.6537279	-0.671635888918044	0.17671	0.9406823	0.999674051801831	0.41644	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.23	-1.44	0.08391	0.064000	0.14310	.	.	-0.189000	0.09497	0.926000	0.32145	0.125000	0.22942	0.997000	0.79791	0.359:0.4008:0.1108:0.1294	3.108	0.05968	841	0.37094	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1180.33	33	chr5	94691617	.	C	A	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.458;DP=714;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.886;SOR=0.608	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1194,0,1028	18	0	1	0
chr5	97124606	97124606	C	T	exonic	LIX1	.	nonsynonymous SNV	LIX1:NM_153234:exon2:c.G106A:p.E36K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0197314838056	.	.	0.0001	0	0	0	0	0	0.0011	0.0009	0.0001035	16	154602	rs756919264	7.543e-05	7.661e-05	4.913e-05	0.0001	0.0011	6.397e-05	5.953e-05	0.0009	0.0009	0	0	0	0	0	0.0002	2.702e-06	0.0001	0.0011	5.253e-05	5.25e-05	2.57e-05	8.056e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.047	0.40319	D	0.073	0.43159	T	0.965	0.56013	D	0.702	0.54226	P	0.000019	0.62929	D	0.151908	0.999991	0.58761	D	1.655	0.42436	L	0.7	0.51474	T	-2.66	0.61722	D	0.708	0.71143	-0.6990	0.60486	T	0.212	0.57294	T	10	0.107117265	0.19881	T	0.019731	0.42166	T	0.220	0.51569	0.427	0.47350	0.533421582741	0.52991	0.5146344507820887	0.51386	0.664270743672	0.59066	0.712870717049	0.69010	T	0.271261	0.64358	T	-0.221472	0.17794	T	-0.141347	0.60000	T	0.375687062740326	0.28017	T	0.944706	0.82105	D	0.41216257	0.61566	0.31574628	0.57559	0.41216257	0.61566	0.31574628	0.57558	-9.899	0.73304	D	.	.	0.265	0.49903	B	.;.	.;.	4.999681	0.82944	27.9	0.99915885164371021	0.98379	0.69922	0.34381	D	AEFDBHCIJ	0.398915	0.47441	N	0.478229433709626	0.65821	4.870908	0.482662865583881	0.66843	5.004931	0.999976707760941	0.50053	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.530356	0.10902	0	.	.	5.0	5.0	0.66209	2.987000	0.49066	2.692000	0.34095	0.596000	0.33519	1.000000	0.71638	0.993000	0.31925	0.664000	0.33081	0.0:1.0:0.0:0.0	18.240	0.89900	948	0.11499	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1184.33	33	chr5	97124606	.	C	T	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=686;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=0.59;SOR=0.922	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1198,0,875	18	0	1	0
chr5	129033106	129033106	-	A	exonic	SLC27A6	.	frameshift insertion	SLC27A6:NM_001017372:exon10:c.1685dupA:p.M564Nfs*20,SLC27A6:NM_001317984:exon11:c.1685dupA:p.M564Nfs*20,SLC27A6:NM_014031:exon11:c.1685dupA:p.M564Nfs*20	.	459	1062	1	0	0	1	0.000470588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.12e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs747096674	2.276e-05	2.326e-05	1.92e-05	2.635e-05	0.0003	1.623e-05	1.428e-05	0.0002	0.0002	0	0	0	2.551e-05	0	0	1.808e-06	1.672e-05	0.0003	6.591e-06	6.57e-06	0	1.35e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	359.29	30	chr5	129033106	.	G	GA	359.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.285;DP=605;ExcessHet=0;FS=7.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.218;SOR=0.086	GT:AD:DP:GQ:PL	0/1:16,15:31:99:373,0,405	18	0	1	0
chr5	132589696	132589697	TG	-	exonic	RAD50	.	frameshift deletion	RAD50:NM_005732:exon9:c.1311_1312del:p.G438Tfs*6	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	830111	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463759914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1278.29	33	chr5	132589695	.	CTG	C	1278.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=697;ExcessHet=0;FS=4.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-1.221;SOR=1.189	GT:AD:DP:GQ:PL	0/1:46,35:81:99:1292,0,1827	18	0	1	0
chr5	138285732	138285732	C	T	exonic	CDC25C	.	nonsynonymous SNV	CDC25C:NM_022809:exon11:c.G1163A:p.R388Q,CDC25C:NM_001364028:exon12:c.G1253A:p.R418Q,CDC25C:NM_001364026:exon13:c.G1553A:p.R518Q,CDC25C:NM_001364027:exon13:c.G1280A:p.R427Q,CDC25C:NM_001287582:exon14:c.G1382A:p.R461Q,CDC25C:NM_001287583:exon14:c.G1616A:p.R539Q,CDC25C:NM_001318098:exon14:c.G1433A:p.R478Q,CDC25C:NM_001790:exon14:c.G1382A:p.R461Q	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00719650705673	0.0035	0.00139776	0.0035	0.0009	0.0020	0	0.0011	0.0042	0.0077	0.0058	0.0032923	509	154602	rs139145068	0.0037	0.0037	0.0035	0.0039	0.0078	0.0036	0.0036	0.0060	0.0054	0.0007	0.0026	0.0137	2.519e-05	0.0009	0.0078	0.0036	0.0046	0.0060	0.0030	0.0030	0.0031	0.0030	0.0060	0.0028	0.0027	0.0043	0.0037	0.0007	0.0252	0.0035	0.0112	0	0.0014	0.0068	0.0039	0.0028	0.0060	0.188	0.21304	T	0.163	0.31125	T	0.014	0.20002	B	0.002	0.11217	B	0.340066	0.13977	N	0.630192	0.999996	0.18878	N	0.91	0.23283	L	2.26	0.27184	T	-2.46	0.55501	N	0.042	0.17140	-1.0358	0.18606	T	0.027	0.11397	T	10	0.0035972	0.00065	T	0.007197	0.19089	T	0.035	0.08770	.	.	0.359557344763	0.35564	0.41471321559080504	0.41387	0.193333280762	0.21667	0.185266166925	0.00152	T	0.335253	0.70490	T	-0.619989	0.00110	T	-0.660875	0.08206	T	0.012438111651714	0.00204	T	0.778722	0.41238	T	0.048525088	0.08473	0.06932186	0.14591	0.048525088	0.08472	0.06932186	0.14591	-3.009	0.15931	T	.	.	0.069	0.03479	B	.;.;.;.;.	.;.;.;.;.	0.240852	0.06213	2.662	0.98011771100408052	0.37559	0.05079	0.10874	N	AEFGBI	0.049155	0.08462	N	-0.846041984606885	0.12147	0.5903535	-0.825473074112167	0.13879	0.7223222	2.76988377908969E-4	0.06300	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.08	-0.722	0.10620	-0.292000	0.08368	-2.651000	0.03506	0.580000	0.29708	0.039000	0.20931	0.000000	0.08366	0.954000	0.50415	0.0:0.4294:0.0:0.5706	10.151	0.41971	396	0.82953	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.002924	0.000000	0.017241	0.006098	0.007576	0.02632	1343.33	38	chr5	138285732	.	C	T	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.41;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.291;SOR=0.731	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1357,0,1300	18	0	1	0
chr5	138924626	138924626	G	A	exonic	CTNNA1	.	nonsynonymous SNV	CTNNA1:NM_001324010:exon3:c.G214A:p.V72I,CTNNA1:NM_001324012:exon4:c.G310A:p.V104I,CTNNA1:NM_001290312:exon6:c.G553A:p.V185I,CTNNA1:NM_001323987:exon6:c.G553A:p.V185I,CTNNA1:NM_001323994:exon6:c.G553A:p.V185I,CTNNA1:NM_001324001:exon6:c.G553A:p.V185I,CTNNA1:NM_001324002:exon6:c.G553A:p.V185I,CTNNA1:NM_001324004:exon6:c.G553A:p.V185I,CTNNA1:NM_001323989:exon7:c.G553A:p.V185I,CTNNA1:NM_001323991:exon7:c.G553A:p.V185I,CTNNA1:NM_001324000:exon7:c.G553A:p.V185I,CTNNA1:NM_001324008:exon7:c.G214A:p.V72I,CTNNA1:NM_001324009:exon7:c.G214A:p.V72I,CTNNA1:NM_001324013:exon7:c.G310A:p.V104I,CTNNA1:NM_001323990:exon8:c.G553A:p.V185I,CTNNA1:NM_001324003:exon8:c.G553A:p.V185I,CTNNA1:NM_001324011:exon8:c.G460A:p.V154I,CTNNA1:NM_001323988:exon9:c.G553A:p.V185I,CTNNA1:NM_001323992:exon9:c.G553A:p.V185I,CTNNA1:NM_001323993:exon9:c.G553A:p.V185I,CTNNA1:NM_001323995:exon9:c.G553A:p.V185I,CTNNA1:NM_001323996:exon9:c.G553A:p.V185I,CTNNA1:NM_001323997:exon9:c.G553A:p.V185I,CTNNA1:NM_001323998:exon9:c.G553A:p.V185I,CTNNA1:NM_001323999:exon9:c.G553A:p.V185I,CTNNA1:NM_001324005:exon9:c.G553A:p.V185I,CTNNA1:NM_001324007:exon9:c.G214A:p.V72I,CTNNA1:NM_001324006:exon10:c.G214A:p.V72I,CTNNA1:NM_001290309:exon11:c.G1354A:p.V452I,CTNNA1:NM_001323986:exon11:c.G1570A:p.V524I,CTNNA1:NM_001290307:exon12:c.G1663A:p.V555I,CTNNA1:NM_001290310:exon12:c.G1294A:p.V432I,CTNNA1:NM_001323983:exon12:c.G1663A:p.V555I,CTNNA1:NM_001323985:exon12:c.G1663A:p.V555I,CTNNA1:NM_001903:exon12:c.G1663A:p.V555I,CTNNA1:NM_001323982:exon13:c.G1663A:p.V555I,CTNNA1:NM_001323984:exon13:c.G1663A:p.V555I	Macular dystrophy, patterned, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	633408	CTNNA1-related_disorder|not_provided|Patterned_macular_dystrophy_2|Hereditary_cancer-predisposing_syndrome|not_specified	.|MedGen:C3661900|MONDO:MONDO:0012162,MedGen:C1837029,OMIM:608970,Orphanet:99001|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.156	0.0102486228906	.	0.000199681	9.044e-05	0	0.0002	0.0003	0	1.813e-05	0	0.0003	6.47e-05	10	154602	rs201877485	2.19e-05	2.326e-05	2.043e-05	2.339e-05	0.0002	1.585e-05	1.357e-05	0.0001	0.0001	0	0.0002	0	5.039e-05	0	0	3.598e-06	1.657e-05	0.0002	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.536e-05	2.18e-06	8.2e-07	.	.	0	0	6.536e-05	0	0	0	0	1.47e-05	0	0	0.375	0.11994	T	0.363	0.17217	T	0.06	0.23119	B	0.01	0.20508	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.76	0.19266	N	0.8	0.48769	T	-0.42	0.14193	N	0.303	0.38335	-1.0657	0.10386	T	0.107	0.38955	T	10	0.097353935	0.17527	T	0.010249	0.26566	T	0.156	0.40720	.	.	0.505123781055	0.50150	0.6497396599705746	0.64909	0.808570310498	0.66628	0.741013944149	0.73123	T	0.021731	0.60479	T	-0.258566	0.13068	T	-0.315702	0.43045	T	0.0477290905329558	0.05096	T	0.810419	0.46176	T	0.2068134	0.42868	0.18845247	0.42136	0.2068134	0.42868	0.18845247	0.42135	-8.552	0.69745	D	0.2506595365716813	0.33923	0.141	0.35477	B	.;.;.;.	.;.;.;.	3.946603	0.57785	23.9	0.99097774927682769	0.52396	0.99100	0.91225	D	AEFGBI	0.935675	0.93088	D	-0.0521733877039411	0.39505	2.33078	0.119037976654702	0.45524	2.813965	0.999999999999471	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	8.137000	0.89516	11.934000	0.99956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	19.720	0.96134	518	0.74548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	35	chr5	138924626	.	G	A	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=728;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.89;SOR=0.586	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1058,0,1172	18	0	1	0
chr5	140788503	140788503	C	T	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C2213T:p.T738I,PCDHA1:NM_031410:exon1:c.C2213T:p.T738I	.	423	1060	38	1	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0058	0.00479233	0.0063	0.0010	0.0022	0	0.0011	0.0082	0.0088	0.0101	0.0060995	943	154602	rs13176401	0.0070	0.0070	0.0068	0.0072	0.0123	0.0069	0.0069	0.0104	0.0102	0.0011	0.0027	0.0242	5.038e-05	0.0007	0.0123	0.0072	0.0074	0.0110	0.0053	0.0053	0.0060	0.0046	0.0073	0.0050	0.0049	0.0068	0.0066	0.0015	0	0.0063	0.0262	0.0004	0.0008	0.0102	0.0073	0.0071	0.0072	0.026	0.46910	D	0.289	0.21078	T	0.079	0.31497	B	0.135	0.33210	B	0.377027	0.04397	U	1.564530	1	0.08975	N	2.98	0.85499	M	2.69	0.12268	T	-3.01	0.64246	D	0.094	0.24758	-1.0051	0.28427	T	0.023	0.09650	T	10	0.0038641095	0.00073	T	.	.	.	0.041	0.10877	.	.	0.146414634003	0.14194	0.4992395497059017	0.49844	0.509160944495	0.49056	.	.	.	0.330682	0.70084	T	-0.653046	0.00069	T	-0.70287	0.05670	T	0.0360362763197902	0.02986	T	0.877312	0.59062	D	0.068108805	0.14811	0.1010875	0.24189	0.068108805	0.14811	0.1010875	0.24188	-5.73	0.46687	T	.	.	0.117	0.23605	B	.;.	.;.	0.117301	0.05153	1.676	0.90841325934908235	0.20090	0.01400	0.04746	N	AEFDBI	0.057516	0.10720	N	-1.38394634931916	0.02788	0.1236151	-1.60201900919824	0.01643	0.07457226	0.881550449451469	0.25634	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.16	-6.43	0.01754	-2.791000	0.00837	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2076:0.1868:0.4658:0.1398	3.890	0.08619	18	0.98631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.000000	0.014946	0.014620	0.000000	0.000000	0.024390	0.007576	0.05263	5516.83	181	chr5	140788503	.	C	T	5516.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.38;DP=2741;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=2.22;SOR=0.692	GT:AD:DP:GQ:PL	0/1:130,105:235:99:2667,0,3586	17	0	2	0
chr5	140834577	140834577	G	A	exonic	PCDHA7	.	nonsynonymous SNV	PCDHA7:NM_018910:exon1:c.G194A:p.R65Q,PCDHA7:NM_031852:exon1:c.G194A:p.R65Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0166179850864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.121e-05	4.378e-05	2.042e-05	2.2e-05	8.947e-05	1.52e-05	1.324e-05	2.986e-05	1.805e-05	0	8.947e-05	0	2.519e-05	0	0	2.248e-05	1.656e-05	0	5.252e-05	0.0001	5.139e-05	5.37e-05	0.0002	2.555e-05	1.829e-05	2.846e-05	1.858e-05	4.808e-05	0	0	0	0	0	0	7.35e-05	0	0.0002	0.224	0.22053	T	0.129	0.35970	T	0.815	0.45525	P	0.115	0.33681	B	.	.	.	.	1	0.81001	D	1.92	0.51302	L	1.29	0.35775	T	-3.25	0.65972	D	0.231	0.30004	-0.9599	0.39199	T	0.089	0.34188	T	9	0.56581986	0.65044	D	0.016618	0.37963	T	0.146	0.38789	0.788	0.91068	0.635842297619	0.63285	0.49080090766540674	0.49000	.	.	.	.	.	0.038329	0.24799	T	-0.290771	0.09559	T	-0.458477	0.26767	T	0.634730100631714	0.37815	D	0.829517	0.49484	T	0.18533504	0.39891	0.23817071	0.49133	0.18533504	0.39891	0.23817071	0.49132	-7.589	0.59354	D	.	.	0.108	0.20547	B	.;.	.;.	3.633407	0.51480	23.1	0.99823048538448722	0.90590	0.89525	0.50045	D	AEFDBCI	0.605849	0.59641	D	0.175305165616936	0.50016	3.19575	0.184907733387232	0.49021	3.110328	0.605250941963221	0.21760	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.599892	0.37169	0	.	.	4.17	3.27	0.36580	4.999000	0.63678	.	.	-0.186000	0.09761	0.999000	0.42656	0.000000	0.08366	0.106000	0.18562	0.0859:0.0:0.9141:0.0	12.776	0.56829	30	0.98208	.;Cadherin, N-terminal|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	.	.	.	.	.	.	.	.	0.02632	3026.33	35	chr5	140834577	.	G	A	3026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=1426;ExcessHet=0;FS=1.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.567;QD=6.32;ReadPosRankSum=0.297;SOR=0.865	GT:AD:DP:GQ:PL	0/1:341,138:479:99:3040,0,8958	18	0	1	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K,PCDHA9:NM_031857:exon1:c.G118A:p.E40K	.	442	1033	39	8	0	55	0.0259312	.	.	.	3206704	PCDHA9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	4116.41	162	chr5	140848613	.	G	A	4116.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.12;DP=2163;ExcessHet=0.0101;FS=19.807;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=58.58;MQRankSum=-6.383;QD=12.18;ReadPosRankSum=1.31;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:140848597_C_G:1935,129,0:140848597	16	1	2	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N,PCDHA9:NM_031857:exon1:c.C128A:p.T43N	.	443	1034	37	8	0	53	0.0249882	.	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005076	0.000000	0.005510	0.000000	0.000000	0.000000	0.012346	0.007576	0.1053	3598.41	162	chr5	140848623	.	C	A	3598.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.37;DP=2156;ExcessHet=0.0101;FS=13.882;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=58.55;MQRankSum=-7.135;QD=10.94;ReadPosRankSum=-0.588;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41:41:99:1|1:140848597_C_G:1845,123,0:140848597	16	1	2	0
chr5	141097033	141097033	C	T	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C2243T:p.S748F	.	404	1113	5	0	0	5	0.00224115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0468277203419	.	.	0.0001	0	0	0	0	1.588e-05	0.0012	0.0008	.	.	.	rs782468154	5.473e-05	5.472e-05	2.587e-05	8.39e-05	0.0008	4.477e-05	4.148e-05	0.0007	0.0006	0	0	0	0	9.363e-05	0	0	8.28e-05	0.0008	5.252e-05	5.249e-05	2.57e-05	8.054e-05	0.0015	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0.0034	0	0	0.0015	0.031	0.45039	D	0.707	0.67890	T	0.094	0.25382	B	0.077	0.28532	B	.	.	.	.	0.851122	0.28495	N	3.315	0.90654	M	0.62	0.53302	T	-5.68	0.87223	D	0.237	0.26717	-0.7670	0.57022	T	0.206	0.56499	T	9	0.089785814	0.15585	T	0.046828	0.62639	D	0.174	0.44019	0.544	0.65731	0.33440975612	0.33058	0.3600758376376308	0.35921	.	.	0.474707365036	0.35329	T	0.096	0.39797	T	-0.325145	0.06485	T	-0.32777	0.41717	T	0.335326670790338	0.26438	T	0.836316	0.50742	T	0.76955175	0.82021	0.63810533	0.78865	0.76955175	0.82023	0.63810533	0.78866	-10.959	0.79433	D	.	.	0.193	0.41326	B	.;.	.;.	3.098864	0.41754	21.4	0.99692437213491913	0.80044	0.52959	0.29256	D	AEFI	0.282284	0.39566	N	-0.225080358407079	0.32106	1.807234	-0.252073421290775	0.29699	1.666079	2.11094650041447E-4	0.05948	0.660085	0.49399	0	0.573888	0.26702	0	0.662677	0.59975	0	0.542086	0.14980	0	.	.	4.58	4.58	0.56077	0.390000	0.20494	.	.	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.8395:0.1605:0.0	13.201	0.59189	466	0.78352	Cadherin, cytoplasmic C-terminal domain;Cadherin, cytoplasmic C-terminal 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	0.001058	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.003788	0.02632	3334.33	44	chr5	141097033	.	C	T	3334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=1312;ExcessHet=0;FS=0.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.51;MQRankSum=-1.031;QD=16.76;ReadPosRankSum=-0.906;SOR=0.769	GT:AD:DP:GQ:PL	0/1:95,104:199:99:3348,0,3022	18	0	1	0
chr5	141122980	141122980	G	A	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G982A:p.G328R	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.052598582816	.	.	0.0001	0	0	0	0	1.508e-05	0.0011	0.0007	9.06e-05	14	154602	rs782700071	5.406e-05	5.404e-05	2.588e-05	8.254e-05	0.0008	4.412e-05	4.084e-05	0.0007	0.0006	0	0	0	0	0	0	8.995e-07	8.281e-05	0.0008	4.599e-05	4.594e-05	2.57e-05	6.72e-05	0.0015	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.02	0.49613	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.965821	0.38492	D	2.165	0.60562	M	0.57	0.54347	T	-7.0	0.93697	D	0.268	0.30347	-0.2395	0.76639	T	0.342	0.70737	T	9	0.12027916	0.22779	T	0.052599	0.65133	D	0.241	0.54641	0.705	0.84145	0.230578612272	0.22657	0.4164383406200926	0.41559	.	.	0.448687821627	0.31765	T	0.033371	0.22885	T	-0.372208	0.03483	T	-0.392933	0.34208	T	0.835299670696259	0.48948	D	0.976002	0.91601	D	0.76566976	0.81789	0.72348374	0.83669	0.76566976	0.81790	0.72348374	0.83670	-8.164	0.62182	D	.	.	0.249	0.48397	B	.	.	3.701999	0.52801	23.3	0.99887023095407279	0.96204	0.18574	0.20316	N	AEFBI	0.248962	0.36927	N	0.338942500204016	0.58159	3.986533	0.200320837619975	0.49865	3.184743	0.0137217092314966	0.12502	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.41	3.53	0.39533	1.200000	0.31854	.	.	0.590000	0.31872	0.102000	0.22834	0.036000	0.21445	0.989000	0.64315	0.0791:0.0:0.9209:0.0	13.063	0.58426	520	0.74355	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1723.33	101	chr5	141122980	.	G	A	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.845;DP=1537;ExcessHet=0;FS=3.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.299;SOR=0.459	GT:AD:DP:GQ:PL	0/1:69,63:132:99:1737,0,1879	18	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,41:212:99:.:.:1580,0,4866:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,85:240:99:.:.:1581,0,4891:.	1	0	18	0
chr5	141339046	141339046	G	C	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.G75C:p.E25D,PCDHGA2:NM_032009:exon1:c.G75C:p.E25D	.	7	1513	2	0	0	2	0.000660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00675158033251	.	0.000599042	0.0002	0	0	0	0	0	0	0.0016	0.0001811	28	154602	rs527363897	6.656e-05	6.635e-05	3.409e-05	9.944e-05	0.0010	5.579e-05	5.168e-05	0.0009	0.0008	0	0	0	0	0	0.0002	1.804e-06	6.652e-05	0.0010	4.593e-05	4.592e-05	2.568e-05	6.709e-05	0.0012	2.107e-05	1.525e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.282	0.15406	T	0.384	0.15794	T	0.001	0.07471	B	0.008	0.13708	B	0.365989	0.13598	U	0.591113	0.999999	0.08975	N	1.685	0.43254	L	0.77	0.49642	T	-1.44	0.35399	N	0.054	0.07398	-1.0285	0.20940	T	0.082	0.32382	T	10	0.005120158	0.00111	T	0.006752	0.17840	T	0.024	0.04979	0.204	0.11936	0.318540980066	0.31459	0.2191093594477683	0.21826	0.289353320653	0.31346	.	.	.	0.008546	0.07843	T	-0.571379	0.00217	T	-0.639075	0.09737	T	0.0491838790476322	0.05356	T	0.0610939	0.00444	T	0.056756984	0.11210	0.07493409	0.16445	0.056756984	0.11210	0.07493409	0.16444	-5.611	0.42892	T	.	.	0.125	0.26357	B	.;.	.;.	0.670354	0.10390	7.113	0.85853502282594463	0.16154	0.14563	0.18469	N	AEFDBHCI	0.064713	0.12581	N	-1.07182694168346	0.07167	0.3320871	-1.09140403086983	0.07868	0.3845041	0.999010666065721	0.38212	0.455138	0.09556	0	0.547309	0.14657	0	0.505578	0.09266	0	0.56751	0.32155	0	.	.	5.07	0.826	0.17967	-1.660000	0.02075	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.217000	0.22379	0.2326:0.1204:0.401:0.246	1.203	0.01774	679	0.60090	.;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	.	.	.	.	.	.	.	.	0.02632	1056.33	34	chr5	141339046	.	G	C	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.532;DP=736;ExcessHet=0;FS=0.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.502;SOR=0.873	GT:AD:DP:GQ:PL	0/1:63,41:104:99:1070,0,1831	18	0	1	0
chr5	141399395	141399395	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1268A:p.R423K,PCDHGB5:NM_032099:exon1:c.G1268A:p.R423K	.	422	1048	52	0	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0115815	0.0072	0.0003	0.0010	0.0002	0	0.0009	0.0056	0.0474	0.0062354	964	154602	rs200724467	0.0034	0.0034	0.0020	0.0048	0.0467	0.0033	0.0033	0.0455	0.0450	0.0001	0.0005	0.0010	0.0001	0	0.0083	0.0006	0.0037	0.0467	0.0021	0.0022	0.0013	0.0031	0.0542	0.0020	0.0019	0.0488	0.0467	0.0002	0	0.0006	0.0006	0.0002	0	0	0.0006	0.0009	0.0542	.	.	.	0.978	0.02725	T	0.004	0.12183	B	0.008	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	.	.	.	.	.	.	0.029	0.01911	.	.	.	.	.	.	.	0.0063636303	0.00144	T	.	.	.	.	.	.	.	0.396345573744	0.39253	0.14224547678667673	0.14147	.	.	.	.	.	0.003024	0.02422	T	-0.578101	0.00198	T	-0.56887	0.15553	T	.	.	.	0.19718	0.02190	T	0.055138256	0.10677	0.13391058	0.32101	0.055138256	0.10676	0.13391058	0.32100	-4.491	0.31382	T	.	.	0.077	0.06387	B	.;.	.;.	0.336922	0.07107	3.681	0.81841351350510849	0.13887	0.02416	0.06831	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0952349597335558	0.16223	0.145562	0.03210	1	0.097471	0.02872	0	0.072005	0.02045	0	0.234357	0.04698	0	0.129061	0.25605	4.63	1.54	0.22290	0.019000	0.13337	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4323:0.0:0.4119:0.1558	4.216	0.09991	809	0.43032	.;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	0.015609	0.000000	0.005435	0.011696	0.000000	0.017241	0.024390	0.022727	0.05263	7456.83	369	chr5	141399395	.	G	A	7456.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.74;DP=1835;ExcessHet=0.119;FS=1.736;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.42;SOR=0.852	GT:AD:DP:GQ:PL	0/1:140,105:245:99:2724,0,3822	17	0	2	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:193,82:275:99:177,0,3810	8	0	11	0
chr5	141405144	141405144	G	C	exonic	PCDHGA9	.	nonsynonymous SNV	PCDHGA9:NM_018921:exon1:c.G2192C:p.G731A,PCDHGA9:NM_032089:exon1:c.G2192C:p.G731A	.	210	1305	7	0	0	7	0.00267482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00172665036326	.	0.000399361	0.0002	0	8.645e-05	0	0	0	0	0.0014	0.0001876	29	154602	rs559544645	0.0001	0.0001	6.126e-05	0.0002	0.0019	0.0001	9.701e-05	0.0016	0.0015	0	0	0	0	0	0.0002	3.597e-06	9.937e-05	0.0019	8.535e-05	8.53e-05	7.709e-05	9.399e-05	0.0027	4.953e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	0.066	0.49663	T	0.002	0.15093	B	0.021	0.19346	B	.	.	.	.	0.999998	0.08975	N	2.3	0.65703	M	0.9	0.45248	T	.	.	.	0.069	0.04668	.	.	.	.	.	.	.	0.008689225	0.00197	T	0.001727	0.02908	T	.	.	.	.	0.795900344566	0.79399	0.17240292680753022	0.17160	0.236369445477	0.26177	.	.	.	0.019159	0.15317	T	-0.59117	0.00165	T	-0.646578	0.09195	T	.	.	.	0.176182	0.01706	T	0.03035736	0.02685	0.083826445	0.19239	0.03035736	0.02684	0.083826445	0.19239	-7.101	0.56841	T	.	.	0.081	0.08417	B	.;.	.;.	1.159221	0.15481	11.88	0.96128413667614765	0.28796	0.14725	0.18553	N	AEFDBI	0.119690	0.23349	N	.	.	.	.	.	.	0.989927285117432	0.31978	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.48	3.36	0.37579	-0.077000	0.11356	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.159000	0.20615	0.1068:0.0:0.7286:0.1646	8.771	0.33892	809	0.43032	.;Cadherin, cytoplasmic C-terminal 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	.	.	.	.	.	.	.	.	0.02632	2408.33	33	chr5	141405144	.	G	C	2408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.052;DP=1160;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.47;SOR=0.661	GT:AD:DP:GQ:PL	0/1:99,90:189:99:2422,0,2859	18	0	1	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E,PCDHGB6:NM_032100:exon1:c.A193G:p.K65E	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|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	0.042347	0.025253	0.023098	0.053797	0.050000	0.043103	0.042945	0.049242	0.07895	7198.79	222	chr5	141408395	.	A	G	7198.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.02;DP=1497;ExcessHet=0.3672;FS=1.745;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.94;MQRankSum=-8.117;QD=11.13;ReadPosRankSum=1.55;SOR=0.744	GT:AD:DP:GQ:PL	0/1:107,118:225:99:2902,0,2773	16	0	3	0
chr5	146062613	146062613	C	T	exonic	SH3RF2	.	nonsynonymous SNV	SH3RF2:NM_152550:exon10:c.C2102T:p.T701I	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0136459188882	.	0.000199681	0.0002	0	0	0	0	0	0	0.0015	0.0001682	26	154602	rs374780252	0.0001	0.0001	6.262e-05	0.0002	0.0018	9.94e-05	9.348e-05	0.0016	0.0015	0	0	0	2.519e-05	0	0	8.993e-07	8.279e-05	0.0018	6.564e-05	6.561e-05	2.569e-05	0.0001	0.0019	3.513e-05	2.614e-05	0.0010	0.0007	2.405e-05	0	0	0	0	0	0	0	0	0.0019	0.0	0.91255	D	0.067	0.44302	T	0.999	0.77913	D	0.996	0.84481	D	0.000142	0.49130	D	0.086125	0.961232	0.38224	D	2.295	0.65404	M	2.1	0.19990	T	-1.42	0.34992	N	0.561	0.71321	-1.0530	0.13574	T	0.097	0.36315	T	10	0.04839596	0.04285	T	0.013646	0.33213	T	0.151	0.39764	0.229	0.15556	0.68042540919	0.67770	0.15708751214226535	0.15629	0.578555744131	0.53760	0.536534905434	0.43956	T	0.010634	0.09586	T	-0.369288	0.03630	T	-0.316463	0.42960	T	0.160788685083389	0.17930	T	0.757724	0.38135	T	0.35754892	0.57649	0.43221453	0.66814	0.35754892	0.57649	0.43221453	0.66814	-5.225	0.39195	T	.	.	0.239	0.47316	B	.;.	.;.	4.380359	0.67514	25.1	0.99900250088810771	0.97199	0.95632	0.65502	D	AEFBI	0.619197	0.60472	D	0.453892580698573	0.64423	4.696668	0.466821559144814	0.65806	4.870317	0.995455974637563	0.34136	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.36	5.36	0.76624	4.065000	0.57229	3.286000	0.37268	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.990000	0.65344	0.0:1.0:0.0:0.0	16.004	0.80122	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1686.33	177	chr5	146062613	.	C	T	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.445;DP=1435;ExcessHet=0;FS=1.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.02;SOR=0.56	GT:AD:DP:GQ:PL	0/1:58,67:125:99:1700,0,1506	18	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	536.21	79	chr5	146286009	.	G	C	536.21	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-2.632;DP=1601;ExcessHet=2.9153;FS=120.644;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.514;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,17:100:99:.:.:104,0,1611:.	10	0	7	2
chr5	150896215	150896215	T	C	exonic	ZNF300	.	nonsynonymous SNV	ZNF300:NM_001172832:exon5:c.A916G:p.I306V,ZNF300:NM_052860:exon6:c.A1024G:p.I342V,ZNF300:NM_001172831:exon7:c.A1072G:p.I358V	.	411	1106	4	1	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	0.00239617	0.0021	0	8.766e-05	0.0001	0	0.0002	0.0033	0.0139	0.00174	269	154602	rs199921485	0.0009	0.0009	0.0006	0.0012	0.0121	0.0009	0.0008	0.0115	0.0113	2.989e-05	2.241e-05	0.0003	2.519e-05	0	0.0019	0.0002	0.0012	0.0121	0.0005	0.0005	0.0003	0.0007	0.0124	0.0004	0.0004	0.0099	0.0090	4.813e-05	0	0	0	0	0	0	0.0002	0	0.0124	0.736	0.07259	T	0.321	0.20164	T	0.063	0.23376	B	0.103	0.30945	B	.	.	.	.	1	0.18612	N	-0.28	0.03718	N	2.27	0.17431	T	0.02	0.06739	N	0.13	0.14196	-0.9367	0.43134	T	0.017	0.06902	T	9	0.0086912215	0.00197	T	.	.	.	0.050	0.13987	.	.	0.27855597813	0.27464	0.011911820871451442	0.01151	0.274175235635	0.29914	0.695755243301	0.66532	T	0.006537	0.05971	T	-0.631214	0.00094	T	-0.668441	0.07708	T	0.0263360561209093	0.01451	T	0.157784	0.01400	T	0.032282185	0.03224	0.04254942	0.05093	0.032282185	0.03224	0.04254942	0.05093	-3.678	0.19895	T	.	.	0.223	0.46049	B	.;.;.;.	.;.;.;.	1.729140	0.22006	15.44	0.80443920630631982	0.13206	0.00021	0.00226	N	AEDBHCI	0.050430	0.08812	N	-0.788669896561286	0.13605	0.6714164	-0.657147146860922	0.18037	0.9617449	0.0136792501649907	0.12496	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.14	3.14	0.35196	-1.787000	0.01861	-1.973000	0.04409	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.1385:0.0:0.8615	5.032	0.13755	648	0.63242	.;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	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.011364	0.02632	1444.33	33	chr5	150896215	.	T	C	1444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.899;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.38;SOR=0.684	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1458,0,1356	18	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:87,35:129:99:173,0,1758	4	0	14	1
chr5	157162649	157162649	C	T	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.G1616A:p.R539K	.	434	1070	18	0	0	18	0.00834106	.	.	.	2825483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.00363130499652	0.0025	0.000599042	0.0032	0.0006	0.0022	0	0	0.0046	0.0055	0.0022	0.0031694	490	154602	rs147753755	0.0032	0.0032	0.0030	0.0033	0.0229	0.0031	0.0031	0.0197	0.0185	0.0008	0.0022	0.0080	0	0.0002	0.0229	0.0033	0.0041	0.0021	0.0028	0.0028	0.0031	0.0026	0.0043	0.0026	0.0025	0.0039	0.0038	0.0006	0	0.0035	0.0075	0	0.0002	0.0238	0.0043	0.0066	0.0017	0.04	0.42199	D	0.049	0.48336	D	0.429	0.35556	B	0.048	0.24975	B	0.234351	0.15850	N	0.524512	1	0.08975	N	1.465	0.36909	L	2.18	0.18875	T	-2.11	0.48020	N	0.11	0.09631	-1.0546	0.13145	T	0.048	0.20315	T	10	0.002883494	0.00046	T	0.003631	0.08340	T	0.072	0.21020	.	.	0.282179105231	0.27821	0.3456008141215238	0.34474	0.10980255445	0.12382	0.302499592304	0.10774	T	0.018217	0.14727	T	-0.599104	0.00148	T	-0.631013	0.10338	T	0.0026392189519949	0.00028	T	0.446455	0.12522	T	0.11736511	0.27670	0.10532055	0.25316	0.11736511	0.27670	0.10532055	0.25315	-3.12	0.11527	T	.	.	0.098	0.16363	B	.	.	-0.033340	0.04059	0.942	0.87186583519478222	0.17049	0.03504	0.08679	N	AEFBI	0.035255	0.04508	N	-0.629269778490458	0.18069	0.935134	-0.788482384031189	0.14778	0.7739151	0.00719944944385497	0.11407	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.87	-0.241	0.12399	-0.203000	0.09440	-0.425000	0.09259	0.599000	0.40250	0.252000	0.24869	0.028000	0.21151	0.058000	0.15825	0.0:0.5486:0.0:0.4514	6.76	0.22723	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030211	0.030303	0.038043	0.055556	0.000000	0.025862	0.015244	0.015152	0.02632	2586.33	141	chr5	157162649	.	C	T	2586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.25;DP=1041;ExcessHet=0;FS=2.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.704;SOR=0.658	GT:AD:DP:GQ:PL	0/1:89,97:186:99:2600,0,2464	18	0	1	0
chr5	157165757	157165757	G	C	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon1:c.C412G:p.Q138E	.	429	1087	6	0	0	6	0.00275229	.	.	.	3251250	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0114032982829	7.7e-05	.	5.766e-05	0	8.637e-05	0	0	1.498e-05	0	0.0003	4.53e-05	7	154602	rs143562132	2.463e-05	2.463e-05	2.042e-05	2.888e-05	0.0003	1.803e-05	1.6e-05	0.0001	8.645e-05	2.987e-05	0	0	0	0	0.0003	1.349e-05	4.967e-05	0.0002	5.26e-05	5.251e-05	6.432e-05	4.034e-05	0.0001	2.558e-05	1.831e-05	2.26e-05	1.125e-05	0	0	0.0001	0	0	0	0.0034	5.885e-05	0.0005	0	0.004	0.65419	D	0.012	0.63918	D	0.974	0.57829	D	0.906	0.64351	P	0.037605	0.24381	N	0.349384	0.746504	0.33880	D	2.42	0.70002	M	2.23	0.18083	T	-2.59	0.55821	D	0.549	0.57518	-0.7760	0.56526	T	0.115	0.40695	T	10	0.4373954	0.57881	T	0.011403	0.28987	T	0.185	0.45933	.	.	0.326074293725	0.32213	0.2390305654444589	0.23817	0.348751630782	0.36736	0.540343403816	0.44493	T	0.113298	0.43023	T	-0.300841	0.08581	T	-0.373721	0.36456	T	0.37642577290535	0.28045	T	0.676632	0.28519	T	0.34545323	0.56711	0.37868297	0.62941	0.34545323	0.56711	0.37868297	0.62940	-10.343	0.75939	D	.	.	0.246	0.48029	B	.	.	4.482561	0.69953	25.4	0.99414911340235068	0.63453	0.90203	0.51196	D	AEFBI	0.599657	0.59259	D	0.623203398716426	0.74645	6.16794	0.536536017569459	0.70467	5.509448	0.958472219093677	0.28365	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.56	4.56	0.55644	5.126000	0.64561	10.785000	0.83751	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.0:0.0:1.0:0.0	13.562	0.61258	509	0.75304	Domain of unknown function DUF3699	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1498.33	33	chr5	157165757	.	G	C	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=772;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=2.31;SOR=0.8	GT:AD:DP:GQ:PL	0/1:78,57:135:99:1512,0,2056	18	0	1	0
chr5	163473509	163473509	C	T	exonic	HMMR	.	stopgain	HMMR:NM_001142557:exon6:c.C595T:p.Q199X,HMMR:NM_012485:exon8:c.C808T:p.Q270X,HMMR:NM_001142556:exon9:c.C856T:p.Q286X,HMMR:NM_012484:exon9:c.C853T:p.Q285X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.036e-05	0	8.764e-05	0	0	7.615e-05	0	0	3.88e-05	6	154602	rs186611419	6.264e-06	6.158e-06	4.159e-06	8.385e-06	0.0002	2.95e-06	2.14e-06	1.621e-05	9.55e-06	0	2.44e-05	0	0	0	0.0002	2.735e-06	0	4.801e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014998	0.28373	N	0.382752	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.909	0.91047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26915	0.80364	D	0.311479	0.88722	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	6.715953	0.95633	35	0.99692730372482485	0.80044	0.63816	0.32207	D	AEFBCI	0.099229	0.19978	N	0.568489651674449	0.71215	5.617078	0.361940511648305	0.59231	4.099132	0.173337683293859	0.17768	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.25	3.08	0.34576	0.176000	0.16596	0.571000	0.19607	0.599000	0.40250	0.158000	0.23769	0.997000	0.33255	0.681000	0.33571	0.3248:0.6752:0.0:0.0	14.393	0.66558	934	0.15400	.;.;.;Hyaluronan mediated motility receptor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	821.33	33	chr5	163473509	.	C	T	821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.104;DP=666;ExcessHet=0;FS=1.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=0.513;SOR=0.359	GT:AD:DP:GQ:PL	0/1:16,28:44:99:835,0,448	18	0	1	0
chr5	172339400	172339400	T	A	exonic	SH3PXD2B	.	nonsynonymous SNV	SH3PXD2B:NM_001017995:exon13:c.A1705T:p.I569F	Frank-ter Haar syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1610420	SH3PXD2B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.082	0.0118397619927	.	0.000599042	0.0006	0	0	0	0	0	0	0.0044	0.0004851	75	154602	rs567930218	0.0003	0.0003	0.0001	0.0004	0.0045	0.0002	0.0002	0.0041	0.0040	0	0	0	0	0	0.0002	8.993e-07	0.0001	0.0045	0.0001	0.0001	5.14e-05	0.0002	0.0035	7.088e-05	5.745e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.005	0.63226	D	0.758	0.04669	T	0.001	0.07471	B	0.0	0.01387	B	0.177000	0.03154	N	1.594730	1	0.08975	N	0	0.06538	N	0.18	0.60361	T	-0.5	0.15782	N	0.042	0.01498	-1.0175	0.24528	T	0.087	0.33857	T	9	0.0030121505	0.00049	T	0.01184	0.29861	T	0.082	0.23913	0.091	0.01065	0.0806252709748	0.07271	0.10648945401786869	0.10578	0.230783154863	0.25627	0.257068902254	0.04548	T	0.039521	0.25219	T	-0.555689	0.00269	T	-0.570718	0.15383	T	0.0524245098883823	0.05920	T	0.371363	0.08780	T	0.06436886	0.13650	0.063797906	0.12692	0.07510456	0.16898	0.05956538	0.11199	-4.178	0.26432	T	0.14372272896926272	0.16361	0.073	0.04847	B	.	.	-0.624309	0.01506	0.095	0.7673194494159794	0.11587	0.11503	0.16677	N	AEFDGBI	0.236632	0.35905	N	-1.62652666059739	0.01138	0.04942721	-1.69389342520518	0.01164	0.05239531	0.99249529199478	0.32860	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.69	-7.91	0.01031	-2.742000	0.00868	-3.083000	0.03076	-1.009000	0.01772	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6384:0.1046:0.257	13.042	0.58314	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	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1552.33	33	chr5	172339400	.	T	A	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=761;ExcessHet=0;FS=5.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.82;MQRankSum=0.891;QD=12.03;ReadPosRankSum=3.18;SOR=0.376	GT:AD:DP:GQ:PL	0/1:73,56:129:99:1566,0,1963	18	0	1	0
chr5	176905445	176905445	T	G	exonic	UIMC1	.	nonsynonymous SNV	UIMC1:NM_001199298:exon15:c.A1997C:p.Q666P,UIMC1:NM_001317961:exon15:c.A1499C:p.Q500P,UIMC1:NM_016290:exon15:c.A1997C:p.Q666P,UIMC1:NM_001199297:exon16:c.A1997C:p.Q666P	.	420	1086	15	1	0	17	0.0077661	.	.	.	4024475	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00642497073246	0.0005	0.000199681	0.0008	0	0.0007	0	0	0.0009	0	0.0019	0.0007827	121	154602	rs145704288	0.0008	0.0008	0.0007	0.0009	0.0153	0.0007	0.0007	0.0127	0.0118	0.0006	0.0009	0.0018	0	0	0.0153	0.0006	0.0017	0.0022	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0007	0.0006	9.623e-05	0	0.0010	0.0014	0	0	0.0238	0.0008	0.0024	0.0010	0.149	0.24758	T	0.429	0.21411	T	0.063	0.26866	B	0.016	0.25828	B	0.046369	0.23446	N	0.389149	0.861878	0.28805	N	2.615	0.76484	M	2.44	0.15376	T	-1.81	0.42575	N	0.173	0.29313	-1.0571	0.12491	T	0.035	0.15204	T	10	0.01127097	0.00247	T	0.006425	0.16899	T	0.048	0.13305	.	.	0.226586394389	0.22295	0.11909426088558273	0.11836	0.192288361204	0.21557	0.375607579947	0.21633	T	0.060801	0.31484	T	-0.475362	0.00788	T	-0.462077	0.26373	T	0.0374802480272142	0.03241	T	0.778122	0.41194	T	0.13653636	0.31647	0.13213734	0.31715	0.14657143	0.33547	0.111912355	0.26998	-2.776	0.09988	T	.	.	0.073	0.04889	B	.;.;.;.	.;.;.;.	2.389850	0.30685	18.51	0.94633349502176733	0.25224	0.72374	0.35426	D	AEFBI	0.141416	0.26358	N	-0.461418642377443	0.23354	1.25357	-0.366433619447899	0.26005	1.433678	0.993275186286127	0.33152	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	2.16	0.26663	0.813000	0.26883	1.944000	0.29846	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.357000	0.25818	0.0:0.2339:0.1741:0.592	4.003	0.09076	693	0.58582	.;.;.;.	.	.	.	.	.	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	0.007049	0.005051	0.012228	0.014620	0.000000	0.017241	0.000000	0.000000	0.02632	816.33	34	chr5	176905445	.	T	G	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.956;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-2.244;SOR=0.713	GT:AD:DP:GQ:PL	0/1:28,33:61:99:830,0,720	18	0	1	0
chr5	178205018	178205018	A	T	exonic	HNRNPAB	.	nonsynonymous SNV	HNRNPAB:NM_004499:exon2:c.A181T:p.N61Y,HNRNPAB:NM_031266:exon2:c.A181T:p.N61Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.971202960433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.729	0.42602	P	0.316	0.41603	B	0.000013	0.62929	U	0.065030	0.71179	0.33526	D	.	.	.	-2.04	0.85703	D	-4.18	0.75537	D	0.203	0.22486	0.268	0.87032	D	0.522	0.82163	D	10	0.39653066	0.55266	T	0.971203	0.99827	D	0.396	0.71084	0.423	0.46693	0.464188422262	0.46044	0.2568611080730679	0.25600	1.45662375788	0.86267	0.939756512642	0.99446	D	0.081616	0.36639	T	0.0262752	0.55226	T	-0.200034	0.54644	T	0.9921013712883	0.82506	D	0.749125	0.37025	T	.	.	.	.	.	.	.	.	-5.43	0.42783	T	.	.	0.671	0.74101	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.317428	0.66045	24.9	0.97953843802158125	0.37122	0.81179	0.40638	D	AEFDBHCIJ	0.562460	0.57004	D	0.0100191614942113	0.42310	2.546876	0.0165751000738312	0.40483	2.416806	0.99999999999902	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	2.9	2.9	0.32809	4.027000	0.56949	10.191000	0.83237	0.465000	0.21702	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	9.216	0.36510	952	0.10565	.;CARG-binding factor, N-terminal;.;CARG-binding factor, N-terminal;CARG-binding factor, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	55.46	14	chr5	178205018	.	A	T	55.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=224;ExcessHet=0;FS=0;InbreedingCoeff=-0.0352;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-1.068;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:178205018_A_T:69,0,204:178205018	18	0	1	0
chr5	178205021	178205021	G	A	exonic	HNRNPAB	.	nonsynonymous SNV	HNRNPAB:NM_004499:exon2:c.G184A:p.A62T,HNRNPAB:NM_031266:exon2:c.G184A:p.A62T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.878870204504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.46513	D	0.077	0.42614	T	0.987	0.77913	D	0.782	0.65201	P	0.000001	0.84330	U	0.000000	0.999947	0.51968	D	.	.	.	-1.9	0.84628	D	-2.32	0.52128	N	0.106	0.09066	0.463	0.90020	D	0.689	0.89258	D	10	0.36018825	0.52668	T	0.87887	0.99076	D	0.581	0.83137	0.508	0.60386	0.532008030239	0.52849	0.5336422791469659	0.53289	0.743036410755	0.63366	0.914911448956	0.97913	D	0.028	0.21243	T	0.00965898	0.52978	T	-0.223902	0.52361	T	0.973969221115112	0.70312	D	0.968203	0.89184	D	.	.	.	.	.	.	.	.	-4.202	0.26780	T	.	.	0.978	0.90719	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.024659	0.59468	24.1	0.9983652298404424	0.91714	0.81816	0.41145	D	AEFDBHCIJ	0.559987	0.56858	D	0.416209485938714	0.62312	4.445197	0.321742883632493	0.56820	3.845957	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	3.12	3.12	0.34986	3.744000	0.54831	7.674000	0.64943	0.418000	0.20770	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	12.045	0.52771	952	0.10565	.;CARG-binding factor, N-terminal;.;CARG-binding factor, N-terminal;CARG-binding factor, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	55.47	14	chr5	178205021	.	G	A	55.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=219;ExcessHet=0;FS=0;InbreedingCoeff=-0.0354;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-1.068;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:178205018_A_T:69,0,204:178205018	18	0	1	0
chr5	178965449	178965449	A	C	exonic	ZNF454	.	nonsynonymous SNV	ZNF454:NM_001178089:exon5:c.A1045C:p.I349L,ZNF454:NM_001178090:exon5:c.A1045C:p.I349L,ZNF454:NM_001323306:exon5:c.A1045C:p.I349L,ZNF454:NM_182594:exon5:c.A1045C:p.I349L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00795171943955	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937383667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.032	0.53426	D	0.476	0.36665	P	0.145	0.33871	B	0.001206	0.39820	N	0.000000	0.984345	0.24808	N	0.33	0.10399	N	3.61	0.04446	T	-1.68	0.40082	N	0.273	0.30914	-0.9876	0.33200	T	0.012	0.04653	T	10	0.14670193	0.27809	T	0.007952	0.21084	T	0.080	0.23350	0.408	0.44230	0.408036853922	0.40422	0.10028333077146188	0.09959	0.822925345412	0.67263	0.811176478863	0.83672	D	0.006208	0.05647	T	-0.174727	0.24522	T	-0.488759	0.23522	T	0.61519330739975	0.37010	D	0.050495	0.00358	T	0.20109557	0.42108	0.18984798	0.42355	0.20109557	0.42108	0.18984798	0.42354	-6.991	0.53968	T	.	.	0.611	0.73855	P	.;.	.;.	4.054857	0.60130	24.2	0.98359805662445032	0.40628	0.01021	0.03839	N	AEFBHCI	0.253356	0.37287	N	-0.315524852043747	0.28558	1.576165	-0.288130455519677	0.28489	1.588824	0.00350226540413078	0.10150	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	4.21	4.21	0.48984	1.739000	0.37842	6.963000	0.57064	0.658000	0.54486	0.005000	0.17040	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.553	0.49984	793	0.45818	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1104.33	42	chr5	178965449	.	A	C	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.011;DP=817;ExcessHet=0;FS=1.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.683;SOR=0.77	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1118,0,1059	18	0	1	0
chr5	180569137	180569137	A	G	exonic	CNOT6	.	nonsynonymous SNV	CNOT6:NM_001370474:exon9:c.A770G:p.K257R,CNOT6:NM_001370472:exon10:c.A1055G:p.K352R,CNOT6:NM_001370473:exon10:c.A1040G:p.K347R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00964064540943	.	0.000199681	4.123e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs533238023	1.505e-05	1.505e-05	1.225e-05	1.788e-05	0.0002	9.85e-06	8.41e-06	0.0002	0.0001	0	0	0	0	0	0.0002	8.993e-07	0	0.0002	6.565e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.292	0.14894	T	0.444	0.13177	T	0.009	0.15093	B	0.02	0.19048	B	0.000017	0.62929	N	0.181277	0.999719	0.48481	D	0.225	0.09600	N	1.52	0.30669	T	-0.49	0.15578	N	0.167	0.17966	-1.0859	0.06245	T	0.044	0.18783	T	9	0.07055774	0.10281	T	0.009641	0.25199	T	0.053	0.14996	0.476	0.55342	0.264547087235	0.26054	0.6272700138781732	0.62660	0.495066746443	0.48050	0.614514350891	0.54954	T	0.163704	0.50887	T	-0.410804	0.01963	T	-0.531676	0.19120	T	0.0985480773947318	0.12197	T	0.827017	0.49049	T	0.0547672	0.10553	0.07320179	0.15881	0.0547672	0.10552	0.07320179	0.15881	-3.436	0.15545	T	.	.	0.073	0.04932	B	.;.;.	.;.;.	2.376254	0.30495	18.45	0.99632949975016749	0.76142	0.98263	0.81054	D	AEFDBI	0.664996	0.63397	D	-0.253795445218421	0.30952	1.730815	-0.0609319247850769	0.37021	2.162072	0.99999787836972	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	4.89	0.63387	6.314000	0.72813	6.999000	0.57189	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.933:0.0:0.067:0.0	11.990	0.52459	958	0.09170	Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6;Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6;Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1331.33	44	chr5	180569137	.	A	G	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.708;DP=890;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.006;SOR=0.844	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1345,0,1763	18	0	1	0
chr6	10410005	10410005	C	T	exonic	TFAP2A	.	nonsynonymous SNV	TFAP2A:NM_001032280:exon2:c.G358A:p.D120N,TFAP2A:NM_001042425:exon2:c.G364A:p.D122N,TFAP2A:NM_001372066:exon2:c.G382A:p.D128N	Branchiooculofacial syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.116736352436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.84e-07	0	1.378e-06	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.78490	D	0.013	0.74150	D	0.995	0.67487	D	0.722	0.54942	P	0.000005	0.62929	D	0.103855	1	0.81001	D	1.15	0.29295	L	-2.31	0.87750	D	-2.51	0.65056	D	0.492	0.53708	0.388	0.88919	D	0.637	0.87285	D	10	0.5954998	0.66618	D	0.116736	0.79631	D	0.512	0.79094	0.317	0.29419	0.876139793726	0.87493	.	.	.	.	0.76782977581	0.77100	T	0.761502	0.93543	D	0.0452068	0.57724	T	-0.17284	0.57184	T	0.977358818054199	0.71804	D	0.978802	0.93758	D	0.44551134	0.63756	0.3963337	0.64277	0.44551134	0.63757	0.3963337	0.64277	-9.953	0.73630	D	.	.	0.591	0.74278	P	.;.;.;.;.;.	.;.;.;.;.;.	4.925755	0.81165	27.5	0.99900499489485561	0.97275	0.99409	0.95660	D	AEFDGBHCI	0.969823	0.99217	D	0.553439665998643	0.70292	5.480164	0.572696386844074	0.72991	5.897665	1.0	0.98316	0.764865	0.99124	0	0.563428	0.19063	0	0.731555	0.93304	0	0.530356	0.10902	0	.	.	4.78	4.78	0.60666	7.900000	0.86025	7.662000	0.64290	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.393	0.83381	716	0.55970	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1856.33	33	chr6	10410005	.	C	T	1856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=761;ExcessHet=0;FS=4.115;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.748;SOR=0.667	GT:AD:DP:GQ:PL	0/1:69,64:133:99:1870,0,1920	18	0	1	0
chr6	13205893	13205893	G	C	exonic	PHACTR1	.	nonsynonymous SNV	PHACTR1:NM_001322311:exon5:c.G467C:p.C156S,PHACTR1:NM_001322312:exon5:c.G467C:p.C156S,PHACTR1:NM_001374583:exon5:c.G467C:p.C156S,PHACTR1:NM_001322313:exon6:c.G674C:p.C225S,PHACTR1:NM_001322314:exon6:c.G953C:p.C318S,PHACTR1:NM_001322308:exon7:c.G743C:p.C248S,PHACTR1:NM_001322309:exon7:c.G743C:p.C248S,PHACTR1:NM_001322310:exon7:c.G950C:p.C317S,PHACTR1:NM_001374581:exon7:c.G743C:p.C248S,PHACTR1:NM_001242648:exon8:c.G743C:p.C248S,PHACTR1:NM_030948:exon8:c.G743C:p.C248S,PHACTR1:NM_001374582:exon9:c.G950C:p.C317S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00738133335627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450751464	6.844e-07	6.84e-07	0	1.376e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.12070	T	0.888	0.03152	T	0.01	0.17573	B	0.008	0.19346	B	0.035735	0.24608	N	0.456970	1	0.81001	D	1.275	0.32135	L	1.54	0.31470	T	0.59	0.04533	N	0.144	0.21839	-1.0022	0.29284	T	0.101	0.37316	T	10	0.14630401	0.27739	T	0.007381	0.19576	T	0.072	0.21020	0.313	0.28774	0.263709349026	0.25991	0.5803632402285628	0.57965	.	.	0.618790566921	0.55558	T	0.014128	0.12084	T	-0.151676	0.28048	T	-0.455649	0.27075	T	0.465636640787125	0.31371	T	.	.	.	0.39722255	0.60540	0.38447043	0.63387	0.39722255	0.60540	0.38447043	0.63387	-1.017	0.01102	T	.	.	0.555	0.71257	A	.;.	.;.	3.205032	0.43602	21.8	0.94854487253388853	0.25659	0.91596	0.53859	D	AEFDBI	0.623033	0.60713	D	0.219599350166109	0.52151	3.391009	0.343288584655982	0.58105	3.979135	0.257398736282117	0.18750	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	4.449000	0.59775	11.617000	0.93589	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.722	0.88262	922	0.19044	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1871.33	36	chr6	13205893	.	G	C	1871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=767;ExcessHet=0;FS=2.914;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.3;SOR=0.49	GT:AD:DP:GQ:PL	0/1:77,70:147:99:1885,0,1997	18	0	1	0
chr6	15487313	15487313	A	G	exonic	JARID2	.	nonsynonymous SNV	JARID2:NM_001267040:exon6:c.A161G:p.N54S,JARID2:NM_004973:exon6:c.A677G:p.N226S	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00455032657598	.	.	8.721e-05	0.0001	0.0003	0.0001	0	6.382e-05	0	6.244e-05	6.47e-05	10	154602	rs778012192	4.995e-05	4.994e-05	3.813e-05	6.189e-05	0.0003	4.06e-05	3.735e-05	0.0002	0.0001	0.0003	6.711e-05	3.827e-05	0.0002	1.872e-05	0	3.778e-05	3.313e-05	5.798e-05	0.0001	0.0001	0.0002	9.415e-05	0.0004	9.15e-05	7.705e-05	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	4.41e-05	0	0.0002	0.002	0.72154	D	0.048	0.92824	D	0.518	0.37483	P	0.079	0.28749	B	0.000000	0.84330	D	0.044932	0.99992	0.51308	D	2.255	0.64187	M	1.38	0.34050	T	-0.71	0.23372	N	0.332	0.42639	-1.1197	0.02350	T	0.040	0.17362	T	10	0.1451588	0.27538	T	0.00455	0.11220	T	0.062	0.17934	.	.	0.488306150274	0.48463	0.26150273163616716	0.26063	0.0975362564077	0.11016	0.592936754227	0.51909	T	0.171242	0.51928	T	-0.347683	0.04874	T	-0.431222	0.29795	T	0.0562689546188764	0.06569	T	0.887511	0.61533	D	0.27879682	0.50932	0.26560703	0.52395	0.27879682	0.50932	0.26560703	0.52394	-4.252	0.27499	T	.	.	0.088	0.32661	B	.;.	.;.	3.273193	0.44819	22.0	0.99646165726463898	0.77005	0.92811	0.56603	D	AEFBCI	0.585430	0.58386	D	0.179944212913219	0.50236	3.215647	0.30154876379097	0.55631	3.725965	0.999999996479895	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	4.318000	0.58981	9.216000	0.79266	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.742	0.77666	810	0.42761	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1590.33	35	chr6	15487313	.	A	G	1590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.875;DP=722;ExcessHet=0;FS=1.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.538;SOR=0.921	GT:AD:DP:GQ:PL	0/1:42,59:101:99:1604,0,1070	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:45,16:63:99:106,0,729	7	0	12	0
chr6	26107645	26107645	T	C	exonic	H1-6	.	nonsynonymous SNV	H1-6:NM_005323:exon1:c.A449G:p.N150S	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0002	0.00379393	0.0027	0.0002	0.0002	0.0003	0	0.0002	0.0011	0.0188	0.0023221	359	154602	rs138508711	0.0013	0.0013	0.0008	0.0018	0.0177	0.0012	0.0012	0.0169	0.0166	0.0001	0.0001	0	0.0007	0	0.0026	0.0002	0.0015	0.0177	0.0006	0.0006	0.0003	0.0010	0.0160	0.0005	0.0005	0.0131	0.0120	0.0001	0	0.0001	0	0.0002	0	0	0.0002	0	0.0160	0.335	0.12920	T	0.151	0.32355	T	0.003	0.11197	B	0.003	0.08700	B	0.136656	0.18439	U	0.497551	1	0.08975	N	0.695	0.17993	N	3.73	0.03982	T	-0.17	0.09627	N	0.13	0.12484	-0.9343	0.43500	T	0.002	0.00676	T	10	0.0032148063	0.00055	T	.	.	.	0.023	0.04649	.	.	0.0297737177859	0.01360	0.02418228079343082	0.02369	.	.	0.221163898706	0.01378	T	0.088794	0.38234	T	-0.715893	0.00029	T	-0.786171	0.02272	T	0.0100690716600304	0.00135	T	0.430757	0.11694	T	0.019084346	0.00434	0.02606675	0.00678	0.019084346	0.00433	0.02606675	0.00678	-1.071	0.01081	T	.	.	0.061	0.01059	B	.	.	-1.193482	0.00537	0.013	0.51771475789712851	0.04624	0.19478	0.20676	N	AEFBI	0.258806	0.37727	N	-1.43983462540798	0.02298	0.1013078	-1.45474056233437	0.02727	0.1259742	0.957174857847376	0.28289	0.487112	0.14033	0	0.573888	0.26702	0	0.514364	0.09456	0	0.530356	0.10902	0	.	.	5.13	-4.25	0.03508	-0.018000	0.12508	-3.959000	0.02427	-0.728000	0.03745	0.137000	0.23458	0.000000	0.08366	0.003000	0.05239	0.0:0.1552:0.6319:0.2129	10.395	0.43376	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.015152	0.05263	3300.83	87	chr6	26107645	.	T	C	3300.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.15;DP=1556;ExcessHet=0.119;FS=0.44;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.72;SOR=0.658	GT:AD:DP:GQ:PL	0/1:79,59:138:99:1528,0,2226	17	0	2	0
chr6	27873204	27873204	C	T	exonic	H4C13	.	nonsynonymous SNV	H4C13:NM_003546:exon1:c.G307A:p.G103S	.	11	1490	18	3	0	24	0.00798935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	.	0.0039	0.00339457	0.0068	0.0010	0.0012	0.0001	0.0048	0.0102	0.0079	0.0044	0.0064488	997	154602	rs45526033	0.0063	0.0063	0.0062	0.0063	0.0101	0.0062	0.0061	0.0080	0.0073	0.0010	0.0017	0.0119	0	0.0066	0.0101	0.0069	0.0057	0.0035	0.0048	0.0048	0.0050	0.0047	0.0074	0.0045	0.0044	0.0069	0.0067	0.0012	0.0230	0.0032	0.0104	0	0.0041	0.0204	0.0074	0.0033	0.0037	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.999741	0.48716	D	.	.	.	.	.	.	.	.	.	0.653	0.66358	-0.4222	0.71319	T	0.312	0.68264	T	6	0.007812321	0.00177	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.6635360055952264	0.66290	.	.	0.73140925169	0.71713	T	0.059698	0.31187	T	-0.0568513	0.43396	T	0.151958	0.80307	D	0.0600398676424806	0.07176	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.524533	0.49421	22.8	0.99048207168593982	0.51185	0.95945	0.66836	D	ALL	0.862432	0.78072	D	0.270502246397553	0.54660	3.631068	0.266824308157461	0.53611	3.52935	0.999999999999999	0.74766	0.024636	0.00146	3	0.166054	0.03914	2	0.171818	0.04044	3	0.249971	0.05119	0	.	.	4.49	4.49	0.54177	7.365000	0.78793	3.709000	0.39550	0.594000	0.32500	1.000000	0.71638	0.994000	0.32194	0.024000	0.12247	0.0:1.0:0.0:0.0	16.667	0.85114	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.015152	0.008152	0.026316	0.000000	0.025862	0.003049	0.000000	0.02632	2874.33	34	chr6	27873204	.	C	T	2874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.588;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=-0.734;SOR=0.672	GT:AD:DP:GQ:PL	0/1:68,108:176:99:2888,0,1598	18	0	1	0
chr6	29461879	29461879	T	C	exonic	OR2H1	.	nonsynonymous SNV	OR2H1:NM_001318014:exon4:c.T110C:p.L37P,OR2H1:NM_001318022:exon4:c.T110C:p.L37P,OR2H1:NM_030883:exon4:c.T110C:p.L37P	.	422	1093	6	1	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	.	0.00279553	0.0024	0	0	0	0	0	0.0023	0.0170	0.0019922	308	154602	rs201061529	0.0010	0.0010	0.0005	0.0014	0.0151	0.0009	0.0009	0.0144	0.0141	8.961e-05	2.236e-05	0	2.519e-05	0	0.0007	2.158e-05	0.0010	0.0151	0.0004	0.0004	0.0002	0.0006	0.0125	0.0003	0.0003	0.0099	0.0090	2.407e-05	0	0	0	0	0	0	1.471e-05	0	0.0125	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.005732	0.32555	N	0.000000	0.997091	0.22793	N	3.395	0.91620	M	6.17	0.00578	T	-5.8	0.88148	D	0.511	0.56919	-1.0447	0.15913	T	0.007	0.02439	T	10	0.008962661	0.00203	T	.	.	.	0.122	0.33800	0.755	0.88484	0.45235992198	0.44860	0.6854977759366211	0.68488	0.0664068669372	0.07407	0.237037166953	0.02529	T	0.049636	0.28365	T	-0.369088	0.03640	T	-0.289972	0.45776	T	0.212762507989436	0.21097	T	.	.	.	0.86108226	0.88169	0.8124268	0.89055	0.86108226	0.88170	0.8124268	0.89055	-14.41	0.94313	D	.	.	0.222	0.45273	B	.;.;.;.	.;.;.;.	3.412708	0.47344	22.4	0.99602578077780457	0.74278	0.66663	0.33156	D	AEFDGBI	0.554335	0.56522	D	0.238636315447975	0.53079	3.478538	-0.0544899410692253	0.37296	2.181868	0.998833175102882	0.37777	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.88	2.88	0.32617	4.371000	0.59294	.	.	0.479000	0.22080	0.530000	0.27189	0.009000	0.19889	0.132000	0.19645	0.0:0.0:0.0:1.0	11.684	0.50735	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3652.33	39	chr6	29461879	.	T	C	3652.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.673;DP=915;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-2.261;SOR=0.642	GT:AD:DP:GQ:PL	0/1:119,152:271:99:3666,0,3047	18	0	1	0
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028403	0.010101	0.010870	0.086957	0.000000	0.035088	0.037037	0.041667	0.07895	5282.79	54	chr6	31138459	.	G	A	5282.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.83;DP=1719;ExcessHet=0.3672;FS=2.633;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.302;SOR=0.576	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1778,0,1426	16	0	3	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	28154.8	93	chr6	31356247	.	C	*	28154.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.65;DP=2188;ExcessHet=3.6106;FS=0.533;InbreedingCoeff=-0.1709;MLEAC=4;MLEAF=0.105;MQ=49.38;MQRankSum=-1.585;QD=15.54;ReadPosRankSum=-0.627;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,44:106:99:0|1:31356168_A_C:2265,496,1421:31356168	15	0	4	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,31:76:99:0|1:31356407_C_G:1166,0,1796:31356407	7	2	10	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	10241.9	43	chr6	31356717	.	AGGT	*	10241.9	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.911;DP=1052;ExcessHet=0.3394;FS=8.004;InbreedingCoeff=0.1815;MLEAC=3;MLEAF=0.079;MQ=53.7;MQRankSum=-5.894;QD=14.61;ReadPosRankSum=-0.931;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,32:85:99:0|1:31356711_C_CGG:1184,0,2129:31356711	16	0	3	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,31:84:99:0|1:31356711_C_CGG:1142,0,2132:31356711	9	3	6	1
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,115:115:99:1|1:31356747_GCC_G:5175,346,0:31356747	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,66:145:99:0|1:31356809_C_T:2513,0,3111:31356809	3	7	9	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,29:136:99:.:.:373,0,3689:.	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,25:136:99:.:.:336,0,3690:.	1	0	16	2
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S,TNXB:NM_001365276:exon36:c.G11539A:p.G3847S,TNXB:NM_019105:exon36:c.G11533A:p.G3845S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	46	1439	32	5	0	42	0.0143836	.	.	.	1683144	See_cases|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020742	0.010204	0.012228	0.042553	0.000000	0.017241	0.030675	0.026515	0.02632	192.36	11	chr6	32043548	.	C	T	192.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.62;DP=275;ExcessHet=0;FS=0;InbreedingCoeff=-0.0293;MLEAC=1;MLEAF=0.026;MQ=38.64;MQRankSum=1.07;QD=10.12;ReadPosRankSum=-0.132;SOR=0.223	GT:AD:DP:GQ:PL	0/1:13,6:19:99:206,0,423	18	0	1	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	.	.	.	3500764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	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	.	Likely benign	0	0	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	0.051198	0.025253	0.065217	0.031915	0.100000	0.094828	0.070122	0.034091	0.05263	6006.83	233	chr6	32405014	.	C	T	6006.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.63;DP=1056;ExcessHet=0.119;FS=10.618;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.144;SOR=0.318	GT:AD:DP:GQ:PL	0/1:98,103:201:99:2754,0,2321	17	0	2	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,44:69:99:1|0:32521930_A_C:1772,0,917:32521930	5	0	11	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,35:61:99:0|1:32521930_A_C:1400,0,836:32521930	5	0	11	3
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	4391.26	169	chr6	32522104	.	G	*	4391.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.87;DP=2472;ExcessHet=5.3738;FS=13.689;InbreedingCoeff=-0.3098;MLEAC=7;MLEAF=0.184;MQ=44.54;MQRankSum=5.13;QD=5.09;ReadPosRankSum=5.61;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,11:99:99:0|1:32522086_T_C:197,0,3629:32522086	12	0	7	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:102:99:1|0:32530183_CTT_C:4283,3619,3567:32530183	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,15:100:99:.:.:4150,3520,3475:.	2	5	11	1
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	12357.7	355	chr6	32584158	.	G	T	12357.7	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.809;DP=3470;ExcessHet=0.7564;FS=6.487;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=53.18;MQRankSum=7.66;QD=11.69;ReadPosRankSum=-0.133;SOR=1.181	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,57:289:99:0|1:32584143_G_A:1695,0,9570:32584143	16	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	26525.4	396	chr6	32584171	.	G	*	26525.4	.	AC=8;AF=0.25;AN=32;BaseQRankSum=2.71;DP=4029;ExcessHet=3.0446;FS=0;InbreedingCoeff=-0.0795;MLEAC=9;MLEAF=0.281;MQ=53.9;MQRankSum=3.91;QD=8.9;ReadPosRankSum=-0.971;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,118:326:99:.:.:4876,313,4138:.	8	0	8	3
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:75,152:339:99:.:.:7675,1578,4240:.	3	2	14	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	16238.5	406	chr6	32584184	.	G	*	16238.5	.	AC=4;AF=0.111;AN=36;BaseQRankSum=3.23;DP=4565;ExcessHet=1.7862;FS=4.279;InbreedingCoeff=-0.0915;MLEAC=4;MLEAF=0.111;MQ=51.6;MQRankSum=-0.956;QD=7.63;ReadPosRankSum=-2.774;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:200,110:345:99:.:.:3961,0,8416:.	15	1	2	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	16445.4	406	chr6	32584185	.	C	*	16445.4	.	AC=3;AF=0.088;AN=34;BaseQRankSum=2.49;DP=4581;ExcessHet=1.0583;FS=4.335;InbreedingCoeff=-0.0523;MLEAC=3;MLEAF=0.088;MQ=51.02;MQRankSum=-1.632;QD=8.83;ReadPosRankSum=-2.806;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:200,110:345:99:.:.:3961,0,8416:.	15	1	1	2
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3227.01	536	chr6	32584318	.	C	*	3227.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.95;DP=7153;ExcessHet=1.3;FS=1.244;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=54.18;MQRankSum=-3.443;QD=1.74;ReadPosRankSum=0.027;SOR=0.792	GT:AD:DP:GQ:PL	0/1:255,64:345:99:1920,0,10515	15	0	4	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,56:153:99:.:.:6514,4079,3904:.	3	0	15	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1316	7491.37	357	chr6	32589684	.	A	G	7491.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=3888;ExcessHet=1.3;FS=0.686;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=46.8;MQRankSum=0.896;QD=4.94;ReadPosRankSum=1.18;SOR=0.619	GT:AD:DP:GQ:PL	0/1:173,58:231:99:1894,0,7065	14	0	5	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,64:99:99:0|1:32641436_G_A:4157,1470,1277:32641436	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,63:98:99:0|1:32641436_G_A:4115,1470,1280:32641436	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,59:97:99:0|1:32641436_G_A:4343,1607,1409:32641436	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,59:97:99:0|1:32641436_G_A:4478,1616,1409:32641436	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,49:120:99:0|1:32641501_G_*:5039,2981,2834:32641501	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,46:132:99:0|1:32641501_G_*:6005,3636,3452:32641501	4	4	11	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	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	.	.	.	.	.	.	.	.	0.1316	18488.6	155	chr6	32641522	.	A	G	18488.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=5;MLEAF=0.132;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,86:132:99:0|1:32641501_G_*:6005,1974,1673:32641501	15	1	3	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1842	103383.0	261	chr6	32664917	.	C	A	103383.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.913;DP=4733;ExcessHet=1.7862;FS=2.506;InbreedingCoeff=-0.0523;MLEAC=7;MLEAF=0.184;MQ=59.58;MQRankSum=-0.09;QD=25.85;ReadPosRankSum=0.279;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,16:156:99:.:.:6595,5816,5752:.	12	0	7	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5027.38	268	chr6	32664926	.	G	A	5027.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=5.58;DP=4649;ExcessHet=2.9153;FS=1.642;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.8;MQRankSum=-9.658;QD=3.27;ReadPosRankSum=-3.733;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,23:162:99:0|1:32664926_G_A:547,0,5767:32664926	12	0	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	62620.1	118	chr6	32666525	.	A	*	62620.1	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.825;DP=1761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=30.4;ReadPosRankSum=-0.601;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,43:83:99:.:.:3522,1610,1462:.	15	1	3	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,21:53:99:.:.:174,0,615:.	3	0	11	5
chr6	36963496	36963496	C	T	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon5:c.C1154T:p.A385V,PI16:NM_001199159:exon6:c.C1154T:p.A385V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0135582113071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.157	0.31730	T	0.164	0.28467	B	0.049	0.25116	B	0.010303	0.29978	N	0.231803	1	0.81001	D	2.125	0.59049	M	2.47	0.14783	T	-1.41	0.34795	N	0.118	0.10769	-1.0616	0.11361	T	0.015	0.05849	T	10	0.07599944	0.11816	T	0.013558	0.33056	T	0.019	0.03383	0.238	0.16912	0.202086224978	0.19791	0.24930524442580887	0.24844	0.561778919436	0.52677	0.322053104639	0.13732	T	0.016205	0.13439	T	-0.243049	0.14963	T	-0.586899	0.13935	T	0.905791461467743	0.55964	D	0.634137	0.24845	T	0.111672334	0.26387	0.17889854	0.40589	0.111672334	0.26387	0.17889854	0.40588	-4.03	0.24251	T	.	.	0.102	0.17785	B	.;.;.	.;.;.	2.896289	0.38372	20.7	0.9977545234374201	0.86260	0.20675	0.21128	N	AEFDBCI	0.093063	0.18834	N	-0.354816974934638	0.27095	1.483902	-0.261405358588091	0.29381	1.645622	0.999999856105662	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.535252	0.11790	0	0.604944	0.38103	0	.	.	5.14	3.26	0.36471	1.439000	0.34623	1.863000	0.29335	0.599000	0.40250	0.090000	0.22578	0.971000	0.29754	0.998000	0.85391	0.0:0.7687:0.1458:0.0855	9.374	0.37433	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1953.33	43	chr6	36963496	.	C	T	1953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.1;DP=1309;ExcessHet=0;FS=1.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.8;SOR=0.841	GT:AD:DP:GQ:PL	0/1:92,70:162:99:1967,0,2599	18	0	1	0
chr6	41061555	41061555	C	A	exonic	APOBEC2	.	nonsynonymous SNV	APOBEC2:NM_006789:exon2:c.C359A:p.T120N	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0530840902267	0.0069	0.00219649	0.0050	0.0018	0.0022	0.0001	0.0020	0.0074	0.0044	0.0033	0.0051746	800	154602	rs41273362	0.0082	0.0082	0.0083	0.0081	0.0096	0.0081	0.0080	0.0095	0.0094	0.0013	0.0023	0.0097	2.519e-05	0.0014	0.0012	0.0096	0.0082	0.0032	0.0049	0.0049	0.0056	0.0042	0.0084	0.0046	0.0045	0.0079	0.0076	0.0017	0	0.0024	0.0066	0	0.0012	0	0.0084	0.0038	0.0054	0.001	0.78490	D	0.015	0.61642	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.605	0.93784	H	0.52	0.55266	T	-4.59	0.78891	D	0.912	0.91391	-0.1959	0.77777	T	0.371	0.73016	T	10	0.03181091	0.01321	T	0.053084	0.65328	D	0.565	0.82232	.	.	0.805687181342	0.80387	0.889782823350155	0.88948	0.389843987297	0.40208	0.674383044243	0.63464	T	0.427369	0.77687	T	-0.290434	0.09593	T	-0.18057	0.56472	T	0.0390108040909898	0.03513	T	0.908009	0.67517	D	0.9353074	0.94771	0.8438327	0.91092	0.9353074	0.94771	0.8438327	0.91092	-9.493	0.70815	D	.	.	0.634	0.70263	P	.	.	4.242199	0.64330	24.7	0.99447075209479496	0.65071	0.99494	0.96712	D	AEFBI	0.851594	0.76846	D	0.900666441432376	0.91791	11.06694	0.854515918504477	0.93278	11.93798	0.999999999999994	0.74766	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.69	5.69	0.88346	5.806000	0.68817	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.793	0.91946	480	0.77422	APOBEC-like, N-terminal|Cytidine and deoxycytidylate deaminase domain	.	.	.	.	rs41273362	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2211.33	34	chr6	41061555	.	C	A	2211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.502;DP=1236;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=2.69;SOR=0.645	GT:AD:DP:GQ:PL	0/1:81,81:162:99:2225,0,2259	18	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	653.84	109	chr6	44229406	.	C	T	653.84	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-2.959;DP=1754;ExcessHet=4.0268;FS=181.44;InbreedingCoeff=-0.3334;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.762;SOR=9.869	GT:AD:DP:GQ:PL	0/1:67,25:92:53:53,0,1083	8	0	8	3
chr6	79673725	79673725	G	A	exonic	SH3BGRL2	.	nonsynonymous SNV	SH3BGRL2:NM_031469:exon2:c.G157A:p.V53I	.	432	1089	1	0	0	1	0.000458926	.	.	.	3317928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0133361239199	0.0002	0.000199681	2.482e-05	0	0	0	0	1.505e-05	0	0.0001	3.23e-05	5	154602	rs371878206	3.831e-05	3.831e-05	3.539e-05	4.125e-05	0.0002	3.025e-05	2.719e-05	9.791e-05	7.838e-05	0	4.472e-05	0	0	0	0	3.058e-05	9.934e-05	0.0002	3.285e-05	3.281e-05	3.858e-05	2.687e-05	5.881e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.409e-05	0	0	0	0	0	0	5.881e-05	0	0	0.483	0.08164	T	0.542	0.09690	T	0.0	0.02946	B	0.0	0.01387	B	0.000036	0.55875	N	0.163302	0.995577	0.23256	N	-1.025	0.01131	N	-1.06	0.76819	T	-0.33	0.12472	N	0.235	0.26475	-0.9570	0.39735	T	0.059	0.24539	T	10	0.044989467	0.03518	T	0.013336	0.32667	T	0.226	0.52472	.	.	0.252162846088	0.24830	0.20865649705149758	0.20781	0.154276991831	0.17418	0.277822911739	0.07190	T	0.010119	0.09163	T	-0.333392	0.05858	T	-0.514017	0.20902	T	0.00908557791262865	0.00114	T	0.835616	0.50622	T	0.020307004	0.00585	0.035333056	0.02767	0.020307004	0.00584	0.035333056	0.02766	-2.119	0.03666	T	.	.	0.056	0.00470	B	.	.	1.214972	0.16082	12.31	0.44560018353441877	0.03435	0.46039	0.27671	N	AEFBI	0.068511	0.13518	N	-0.926750730587145	0.10219	0.4873226	-0.80963592510801	0.14263	0.7443314	0.145344228194448	0.17348	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.75	1.18	0.20058	2.372000	0.43911	0.453000	0.18541	0.618000	0.50648	1.000000	0.71638	0.002000	0.18203	0.807000	0.38039	0.7767:0.0:0.2233:0.0	9.030	0.35414	347	0.85595	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	557.33	37	chr6	79673725	.	G	A	557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=676;ExcessHet=0;FS=4.193;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=1.87;SOR=1.426	GT:AD:DP:GQ:PL	0/1:30,21:51:99:571,0,758	18	0	1	0
chr6	84089237	84089237	G	A	exonic	MRAP2	.	nonsynonymous SNV	MRAP2:NM_001346541:exon3:c.G116A:p.R39H,MRAP2:NM_001346544:exon4:c.G374A:p.R125H,MRAP2:NM_138409:exon4:c.G374A:p.R125H,MRAP2:NM_001346542:exon5:c.G374A:p.R125H,MRAP2:NM_001346543:exon5:c.G209A:p.R70H	.	432	1077	13	0	0	13	0.00599908	.	.	.	722158	not_provided|Body_mass_index_quantitative_trait_locus_18	MedGen:C3661900|MedGen:C3714940,OMIM:615457	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.0227091376901	0.0007	0.000998403	0.0013	9.61e-05	0.0011	0	0	0.0013	0.0022	0.0031	0.0011643	180	154602	rs115655382	0.0010	0.0010	0.0010	0.0011	0.0088	0.0010	0.0010	0.0069	0.0062	0.0003	0.0011	0.0075	0	3.744e-05	0.0088	0.0008	0.0015	0.0033	0.0009	0.0009	0.0010	0.0009	0.0027	0.0008	0.0008	0.0016	0.0013	0.0001	0	0.0006	0.0069	0	9.436e-05	0.0034	0.0013	0.0005	0.0027	0.852	0.02725	T	0.444	0.13177	T	0.0	0.02946	B	0.0	0.01387	B	0.101071	0.19856	N	0.567744	0.999363	0.21303	N	-1.175	0.00869	N	-1.7	0.83072	D	1.32	0.00925	N	0.057	0.02861	-0.9121	0.46594	T	0.061	0.25492	T	10	0.0024435222	0.00036	T	0.022709	0.45623	T	0.112	0.31546	.	.	0.115124310173	0.11017	0.07573870651923251	0.07509	0.0807362003014	0.09083	0.206001698971	0.00653	T	0.016995	0.13941	T	-0.468062	0.00874	T	-0.447536	0.27969	T	0.0190209721956763	0.00611	T	0.744226	0.36418	T	0.031966757	0.03133	0.027701128	0.00943	0.031966757	0.03133	0.027701128	0.00943	-5.222	0.39165	T	.	.	0.056	0.00505	B	.	.	1.382483	0.17940	13.46	0.37176634600578984	0.02434	0.22009	0.21600	N	AEFDBI	0.028075	0.02407	N	-1.02619758246242	0.08063	0.3767438	-0.789500756822518	0.14753	0.7724695	0.0834012932862661	0.15927	0.562547	0.31514	0	0.573888	0.26702	0	0.719019	0.79029	0	0.635551	0.53088	0	.	.	5.33	1.42	0.21524	1.772000	0.38182	0.664000	0.20530	-0.244000	0.07312	0.711000	0.28732	0.060000	0.22018	0.890000	0.42831	0.7522:0.0:0.2478:0.0	8.615	0.32988	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	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	0.007049	0.000000	0.004076	0.023392	0.000000	0.008621	0.000000	0.007576	0.02632	2022.33	34	chr6	84089237	.	G	A	2022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=771;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.664;SOR=0.843	GT:AD:DP:GQ:PL	0/1:70,76:146:99:2036,0,1680	18	0	1	0
chr6	112075998	112075998	G	A	exonic	TUBE1	.	nonsynonymous SNV	TUBE1:NM_016262:exon8:c.C751T:p.H251Y	.	438	1064	18	2	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0031	0.00239617	0.0051	0.0005	0.0031	0	0.0145	0.0063	0.0077	0.0035	0.0047283	731	154602	rs141127175	0.0050	0.0050	0.0049	0.0051	0.0068	0.0049	0.0048	0.0051	0.0045	0.0007	0.0040	0.0118	0	0.0151	0.0068	0.0047	0.0058	0.0042	0.0049	0.0049	0.0044	0.0054	0.0080	0.0046	0.0045	0.0068	0.0064	0.0008	0	0.0080	0.0150	0	0.0162	0	0.0047	0.0080	0.0056	0.032	0.44694	D	0.033	0.53072	D	0.031	0.20130	B	0.024	0.20255	B	0.293673	0.14722	N	0.710167	1	0.08975	N	0.205	0.09354	N	-0.27	0.67367	T	-0.97	0.25770	N	0.213	0.23758	-0.9554	0.40024	T	0.094	0.35551	T	10	0.0066625774	0.00151	T	.	.	.	0.119	0.33137	.	.	0.700147750719	0.69755	0.389442045331326	0.38859	0.0542347905455	0.05990	0.301987946033	0.10698	T	0.111445	0.42694	T	-0.519931	0.00440	T	-0.517979	0.20500	T	0.0233332931321639	0.01063	T	0.320168	0.06459	T	0.035655264	0.04239	0.0432794	0.05349	0.035655264	0.04239	0.0432794	0.05349	-4.534	0.31330	T	.	.	0.072	0.04277	B	.	.	1.915503	0.24327	16.36	0.92543979648825547	0.21992	0.88425	0.48347	D	AEFBI	0.669087	0.63664	D	-0.568952321685599	0.19892	1.044698	-0.475234667800596	0.22838	1.242473	0.810158559956206	0.24340	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.81	3.97	0.45241	4.217000	0.58344	6.190000	0.54754	-0.721000	0.03806	1.000000	0.71638	0.999000	0.35428	0.002000	0.04165	0.0717:0.135:0.7932:0.0	10.213	0.42330	689	0.59000	Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.010870	0.002924	0.000000	0.017241	0.012195	0.011364	0.02632	884.33	33	chr6	112075998	.	G	A	884.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.966;DP=692;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.328;SOR=0.826	GT:AD:DP:GQ:PL	0/1:36,34:70:99:898,0,889	18	0	1	0
chr6	125855204	125855204	A	G	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001122842:exon3:c.A235G:p.I79V,NCOA7:NM_181782:exon3:c.A235G:p.I79V,NCOA7:NM_001199619:exon4:c.A235G:p.I79V,NCOA7:NM_001199620:exon5:c.A235G:p.I79V	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00810599940913	0.0011	0.000399361	0.0013	0	0.0007	0.0001	0	0.0018	0	0.0019	0.0011255	174	154602	rs150585521	0.0009	0.0009	0.0009	0.0010	0.0111	0.0009	0.0009	0.0089	0.0081	0.0001	0.0004	0.0173	0	0	0.0111	0.0005	0.0025	0.0019	0.0008	0.0008	0.0009	0.0008	0.0012	0.0007	0.0007	0.0006	0.0005	0.0001	0.0044	0.0005	0.0150	0	0	0	0.0007	0.0009	0.0012	0.05	0.91255	D	0.81	0.92824	T	0.104	0.25941	B	0.058	0.26451	B	0.006176	0.32222	N	0.312300	0.588773	0.81001	D	1.955	0.52871	M	2.73	0.47815	T	0.03	0.23808	N	0.345	0.38950	-1.0962	0.04583	T	0.038	0.16333	T	10	0.004961461	0.00106	T	0.008106	0.21495	T	0.026	0.05648	.	.	0.134007934775	0.12933	0.19000288723508557	0.18918	0.156418775729	0.17651	0.595595479012	0.52283	T	0.023264	0.25386	T	-0.392945	0.02574	T	-0.343382	0.39961	T	0.0388171266727768	0.03477	T	0.80432	0.52922	T	0.040065438	0.05651	0.06271172	0.12312	0.040065438	0.05650	0.06271172	0.12312	-4.298	0.28149	T	.	.	0.296	0.64686	B	.;.;.;.;.;.	.;.;.;.;.;.	2.728136	0.35700	19.97	0.99435328740795181	0.64472	0.88945	0.49125	D	AEFBI	0.556325	0.56640	D	-0.21313034229658	0.32593	1.839868	-0.0501618689519236	0.37484	2.195287	0.992149316492074	0.32735	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.39	4.22	0.49153	3.941000	0.56317	6.869000	0.56783	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8482:0.1518:0.0:0.0	11.356	0.48852	841	0.37094	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.017241	0.006098	0.015152	0.02632	892.33	34	chr6	125855204	.	A	G	892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.796;DP=718;ExcessHet=0;FS=5.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.714;SOR=0.956	GT:AD:DP:GQ:PL	0/1:57,36:93:99:906,0,1528	18	0	1	0
chr6	132752672	132752672	C	A	exonic	VNN2	.	nonsynonymous SNV	VNN2:NM_004665:exon4:c.G615T:p.R205S,VNN2:NM_078488:exon5:c.G456T:p.R152S	.	429	1071	21	1	0	23	0.0106236	.	.	.	2820706	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.175	.	0.0073	0.00319489	0.0069	0.0013	0.0020	0	0.0119	0.0095	0.0121	0.0046	0.0064618	999	154602	rs34492437	0.0071	0.0071	0.0070	0.0071	0.0191	0.0069	0.0069	0.0162	0.0151	0.0010	0.0034	0.0014	5.038e-05	0.0114	0.0191	0.0076	0.0065	0.0056	0.0074	0.0074	0.0072	0.0075	0.0110	0.0070	0.0069	0.0104	0.0101	0.0012	0.0681	0.0061	0.0020	0.0002	0.0098	0.0205	0.0110	0.0071	0.0068	0.094	0.31383	T	0.047	0.48855	D	0.006	0.13644	B	0.038	0.23361	B	0.216035	0.16250	N	0.566459	0.887897	0.35888	D	2.08	0.57402	M	-2.53	0.89430	D	-1.96	0.48020	N	0.198	0.22228	-0.5628	0.66297	T	0.382	0.73862	T	10	0.00540179	0.00119	T	.	.	.	0.175	0.44197	0.659	0.79689	0.315609569513	0.31162	0.5131134951097541	0.51233	0.0249936575044	0.02547	0.261339426041	0.05051	T	0.052336	0.29133	T	-0.393427	0.02556	T	-0.32623	0.41887	T	0.0130324747353606	0.00227	T	0.29727	0.05521	T	0.13159433	0.30669	0.09166431	0.21561	0.13159433	0.30669	0.09166431	0.21561	-5.733	0.45144	T	.	.	0.222	0.45359	B	.;.	.;.	1.833391	0.23296	15.96	0.80822816348033655	0.13385	0.07561	0.13573	N	AEFBI	.	.	.	-0.766231500474358	0.14196	0.705232	-0.742657934725722	0.15902	0.8386894	0.999689238818324	0.41756	0.643511	0.44296	0	0.688494	0.66719	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.41	1.64	0.22949	-0.846000	0.04444	-0.084000	0.12141	-0.914000	0.02241	0.000000	0.06391	0.000000	0.08366	0.410000	0.27006	0.0:0.5087:0.1296:0.3617	5.670	0.16989	904	0.23766	Carbon-nitrogen hydrolase|Carbon-nitrogen hydrolase;.	.	.	.	.	rs34492437	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.008152	0.014620	0.050000	0.034483	0.012195	0.015152	0.02632	2139.33	34	chr6	132752672	.	C	A	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.134;DP=768;ExcessHet=0;FS=3.981;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.707;SOR=0.434	GT:AD:DP:GQ:PL	0/1:62,84:146:99:2153,0,1576	18	0	1	0
chr6	137493372	137493372	A	G	exonic	OLIG3	.	nonsynonymous SNV	OLIG3:NM_175747:exon1:c.T799C:p.S267P	.	391	1116	14	1	0	16	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	.	0.0003	0.0325479	0.0247	0.0010	0.0011	0.1250	0.0053	0.0008	0.0286	0.0902	0.0127424	1970	154602	rs117770313	0.0064	0.0064	0.0051	0.0077	0.1023	0.0063	0.0062	0.0997	0.0986	0.0002	0.0003	0.0015	0.1023	0.0017	0.0033	0.0002	0.0073	0.0523	0.0056	0.0056	0.0041	0.0073	0.0958	0.0053	0.0052	0.0889	0.0861	0.0003	0	0.0014	0.0014	0.0958	0.0020	0	0.0003	0.0028	0.0573	0.011	0.55530	D	0.076	0.42614	T	0.165	0.28508	B	0.135	0.33210	B	0.003706	0.34585	N	0.240853	0.925684	0.27186	N	0.345	0.11182	N	-5.99	0.99477	D	-0.57	0.17210	N	0.086	0.06322	0.714	0.93343	D	0.872	0.95731	D	10	0.0013388693	0.00015	T	.	.	.	0.470	0.76421	.	.	.	.	0.485082664627966	0.48428	0.893088627956	0.70307	0.604440331459	0.53532	T	0.16931	0.51664	T	-0.247297	0.14432	T	-0.0505244	0.66986	D	0.0255475050810411	0.01344	T	0.667933	0.27701	T	0.33610493	0.55967	0.38507095	0.63432	0.33610493	0.55967	0.38507095	0.63432	-3.705	0.19392	T	.	.	0.115	0.22969	B	.	.	3.540999	0.49734	22.8	0.99466147207522992	0.66049	0.82117	0.41395	D	AEFDBHCIJ	0.429714	0.49272	N	-0.116038138549977	0.36693	2.124469	0.0600495938798157	0.42561	2.576358	0.999714682881368	0.42101	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.6	5.6	0.84997	0.284000	0.18624	9.210000	0.79232	0.733000	0.85838	0.620000	0.27914	1.000000	0.68203	0.994000	0.71098	0.7409:0.0:0.0:0.2591	9.089	0.35757	889	0.27310	.	.	.	.	.	.	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	0.008665	0.005435	0.001359	0.008772	0.000000	0.000000	0.006250	0.037879	0.02632	637.33	35	chr6	137493372	.	A	G	637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.857;DP=706;ExcessHet=0;FS=3.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.112;SOR=1.191	GT:AD:DP:GQ:PL	0/1:37,26:63:99:651,0,977	18	0	1	0
chr6	137874854	137874854	A	G	exonic	TNFAIP3	.	nonsynonymous SNV	TNFAIP3:NM_001270507:exon3:c.A305G:p.N102S,TNFAIP3:NM_001270508:exon3:c.A305G:p.N102S,TNFAIP3:NM_006290:exon3:c.A305G:p.N102S	Autoinflammatory syndrome, familial, Behcet-like, Autosomal dominant	415	1102	5	0	0	5	0.00226347	.	.	.	139069	Autoinflammatory_syndrome,_familial,_Behcet-like_1|not_provided|not_specified	MONDO:MONDO:0800045,MedGen:C4225218,OMIM:616744,Orphanet:476102,Orphanet:674762|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.491	.	0.0011	0.0129792	0.0107	0.0003	0.0603	0.0135	0.0015	0.0006	0.0055	0.0258	0.0102715	1588	154602	rs146534657	0.0043	0.0043	0.0038	0.0047	0.0614	0.0042	0.0041	0.0595	0.0587	0.0005	0.0614	0	0.0124	0.0021	0.0012	0.0004	0.0042	0.0248	0.0065	0.0065	0.0050	0.0081	0.0452	0.0062	0.0060	0.0424	0.0413	0.0008	0	0.0452	0	0.0126	0.0025	0.0034	0.0005	0.0062	0.0263	0.0	0.91255	D	0.01	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.705	0.79137	M	1.25	0.36512	T	-4.75	0.80943	D	0.348	0.83473	-0.6429	0.63022	T	0.199	0.55442	T	10	0.015530705	0.00326	T	.	.	.	0.491	0.77783	.	.	.	.	0.7363864717433659	0.73583	0.905168708475	0.70807	0.605990409851	0.53751	T	0.508181	0.82558	D	-0.343102	0.05177	T	-0.217723	0.52957	T	0.059051813365513	0.07018	T	0.944006	0.84807	D	0.83857834	0.86507	0.8019494	0.88392	0.9072595	0.92042	0.8019494	0.88393	-10.953	0.79400	D	0.6517406745526113	0.72398	0.595	0.74346	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.430318	0.68699	25.3	0.99895679879598609	0.96895	0.96843	0.71240	D	AEFDBCI	0.859172	0.77680	D	0.899868931337003	0.91751	11.04629	0.873017492571196	0.94287	12.64407	0.999999999999973	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.602189	0.34648	0	0.662433	0.64102	0	.	.	5.97	5.97	0.96935	8.336000	0.89943	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	15.007	0.71180	940	0.13648	OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.015152	0.02632	578.33	40	chr6	137874854	.	A	G	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.019;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.743;SOR=0.826	GT:AD:DP:GQ:PL	0/1:22,20:42:99:592,0,633	18	0	1	0
chr6	142770955	142770955	C	T	exonic	HIVEP2	.	nonsynonymous SNV	HIVEP2:NM_006734:exon5:c.G3784A:p.E1262K	Mental retardation, autosomal dominant 43, Autosomal dominant	6	1510	5	1	0	7	0.00231252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00380517604827	.	.	5.796e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs777009595	3.01e-05	3.01e-05	9.528e-06	5.088e-05	0.0005	2.281e-05	2.032e-05	0.0003	0.0003	0	0	0	0	0	0.0005	8.993e-07	0	0.0005	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.056	0.38185	T	0.132	0.34477	T	0.002	0.09854	B	0.002	0.06944	B	0.077163	0.21120	N	0.559004	0.83338	0.34953	D	0.975	0.24501	L	4.33	0.02363	T	-0.95	0.25332	N	0.237	0.28381	-0.9745	0.36235	T	0.006	0.01944	T	10	0.06292069	0.08118	T	0.003805	0.08868	T	0.073	0.21317	0.331	0.31681	0.043077524339	0.03247	0.10957832459005765	0.10886	0.248847636527	0.27451	0.442270308733	0.30888	T	0.143554	0.47972	T	-0.395657	0.02472	T	-0.463379	0.26232	T	0.0571714725257813	0.06717	T	0.90401	0.66351	D	0.070424296	0.15511	0.067180105	0.13863	0.070424296	0.15511	0.067180105	0.13862	-4.522	0.31175	T	0.4907915641266759	0.56773	0.123	0.26106	B	.;.;.	.;.;.	2.792684	0.36715	20.3	0.98918255882678041	0.48509	0.83992	0.43080	D	AEFDBHCI	0.127527	0.24493	N	-0.251596692818822	0.31040	1.736588	-0.161852741341197	0.32955	1.880084	0.999998687991888	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.97	5.11	0.69188	2.503000	0.45067	5.935000	0.51384	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.267000	0.23694	0.0:0.9324:0.0:0.0676	15.110	0.72020	514	0.74853	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3742.33	41	chr6	142770955	.	C	T	3742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=1069;ExcessHet=0;FS=3.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.578;SOR=0.863	GT:AD:DP:GQ:PL	0/1:140,134:274:99:3756,0,3832	18	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	683.79	147	chr6	152331115	.	C	G	683.79	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.897;DP=2493;ExcessHet=1.3;FS=258.908;InbreedingCoeff=-0.2283;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=2.44;SOR=12.09	GT:AD:DP:GQ:PL	0/1:113,47:170:99:181,0,2518	10	0	5	4
chr6	156778053	156778061	GCGGCGGCA	-	exonic	ARID1B	.	nonframeshift deletion	ARID1B:NM_001374820:exon1:c.373_381del:p.A128_A130del,ARID1B:NM_001374828:exon1:c.373_381del:p.A128_A130del,ARID1B:NM_017519:exon1:c.373_381del:p.A128_A130del,ARID1B:NM_001371656:exon2:c.373_381del:p.A128_A130del	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579250	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0062	.	0.0017	0.0251	0	0	0	0.0005	0	0.0004	0.0001537	4	26028	rs769480864	0.0006	0.0006	0.0007	0.0005	0.0169	0.0006	0.0006	0.0157	0.0152	0.0169	0.0008	3.977e-05	0.0007	8.074e-05	0.0006	0.0002	0.0010	0.0003	0.0050	0.0051	0.0048	0.0053	0.0174	0.0047	0.0046	0.0164	0.0159	0.0174	0	0.0015	0	0.0006	0	0	0.0002	0.0029	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1315.29	33	chr6	156778052	.	CGCGGCGGCA	C	1315.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=728;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.808;SOR=0.871	GT:AD:DP:GQ:PL	0/1:33,34:67:99:1329,0,1262	18	0	1	0
chr6	158585341	158585341	A	C	exonic	TMEM181	.	nonsynonymous SNV	TMEM181:NM_001376856:exon2:c.A54C:p.K18N,TMEM181:NM_001376855:exon4:c.A201C:p.K67N,TMEM181:NM_001376817:exon5:c.A420C:p.K140N,TMEM181:NM_001376850:exon5:c.A297C:p.K99N,TMEM181:NM_001376852:exon5:c.A297C:p.K99N,TMEM181:NM_001376854:exon5:c.A297C:p.K99N,TMEM181:NM_020823:exon5:c.A420C:p.K140N	.	431	1069	21	1	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0072	0.00439297	0.0060	0.0016	0.0040	0.0002	0.0023	0.0089	0.0090	0.0028	0.0061772	955	154602	rs41266341	0.0078	0.0078	0.0079	0.0077	0.0169	0.0077	0.0076	0.0142	0.0132	0.0010	0.0049	0.0186	2.525e-05	0.0013	0.0169	0.0087	0.0083	0.0033	0.0062	0.0062	0.0064	0.0059	0.0091	0.0058	0.0057	0.0084	0.0082	0.0015	0.0011	0.0091	0.0210	0	0.0006	0.0272	0.0090	0.0104	0.0025	0.136	0.26085	T	0.237	0.24621	T	0.788	0.44546	P	0.201	0.36881	B	0.000000	0.84330	D	0.092195	0.708289	0.33492	D	2.2	0.62015	M	.	.	.	-1.31	0.32791	N	0.684	0.69037	-1.0861	0.06209	T	0.042	0.18118	T	9	0.00878191	0.00199	T	.	.	.	0.124	0.34239	0.407	0.44066	0.0762999501168	0.06990	0.445810111811711	0.44499	0.207708327126	0.23235	0.658450484276	0.61187	T	0.013	0.11252	T	-0.504487	0.00539	T	-0.488042	0.23596	T	0.0240138043545516	0.01147	T	0.808019	0.45805	T	0.08445353	0.19549	0.10617646	0.25537	0.08445353	0.19549	0.10617646	0.25536	-8.518	0.64548	D	.	.	0.513	0.65158	A	.	.	1.649449	0.21042	15.03	0.99334652967786197	0.59934	0.86213	0.45451	D	AEFDBI	0.104897	0.20976	N	-0.348541092712033	0.27326	1.498331	-0.371911551102668	0.25838	1.423409	0.478385295646404	0.20765	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	-1.12	0.09306	0.817000	0.26938	0.764000	0.21339	0.691000	0.84096	1.000000	0.71638	0.984000	0.30665	0.993000	0.69303	0.5379:0.0:0.4621:0.0	9.748	0.39624	644	0.63734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015641	0.015152	0.021739	0.011696	0.000000	0.025862	0.006173	0.007576	0.07895	4725.77	34	chr6	158585341	.	A	C	4725.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.874;DP=810;ExcessHet=0;FS=7.333;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.73;ReadPosRankSum=-0.139;SOR=1.158	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3131,297,0	17	1	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,63:63:99:1|1:170561949_GCAA_G:2631,191,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,102:102:99:1|1:170561949_GCAA_G:4522,312,0:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,63:63:99:1|1:170561949_GCAA_G:4522,312,0:170561949	6	5	8	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,13:30:93:.:.:93,0,194:.	2	0	16	1
chr7	1155473	1155473	G	C	exonic	ZFAND2A	.	nonsynonymous SNV	ZFAND2A:NM_001365381:exon4:c.C262G:p.P88A,ZFAND2A:NM_001365383:exon4:c.C262G:p.P88A,ZFAND2A:NM_182491:exon4:c.C262G:p.P88A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00637562988035	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs766115994	1.368e-05	1.368e-05	4.085e-06	2.338e-05	0.0002	8.94e-06	7.27e-06	0.0001	0.0001	0	0	0	0	0	0	0	1.657e-05	0.0002	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.012	0.54683	D	0.051	0.47828	T	0.149	0.44599	B	0.076	0.39904	B	0.000001	0.84330	N	0.055693	0.953841	0.37849	D	3.07	0.87108	M	0.98	0.45248	T	-5.77	0.89534	D	0.433	0.47208	-1.0094	0.27105	T	0.098	0.36625	T	10	0.16382504	0.30666	T	0.006376	0.16754	T	0.128	0.35103	0.255	0.19533	0.256283259241	0.25257	0.13559485208986327	0.13483	0.00922494675709	0.00836	0.313690006733	0.12465	T	0.088588	0.82756	T	-0.348649	0.04813	T	-0.438262	0.29005	T	0.4564089179039	0.31033	T	0.724428	0.38756	T	0.22272977	0.44879	0.15144855	0.35675	0.22272977	0.44879	0.15144855	0.35674	-6.016	0.46414	T	.	.	0.071	0.16973	B	.;.;.	.;.;.	1.735612	0.22085	15.48	0.81800427337689818	0.13866	0.94528	0.61457	D	AEFBI	0.319490	0.42288	N	-0.40408624635402	0.25326	1.373951	-0.450192920492984	0.23544	1.28446	0.99997553462215	0.50053	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	2.43	0.28797	4.691000	0.61424	5.196000	0.47916	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.119000	0.19126	0.0806:0.2878:0.6317:0.0	8.714	0.33561	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	34	chr7	1155473	.	G	C	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.553;DP=703;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.185;SOR=0.571	GT:AD:DP:GQ:PL	0/1:38,33:71:99:775,0,927	18	0	1	0
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.07895	5149.79	35	chr7	1434651	.	T	G	5149.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.249;DP=1028;ExcessHet=0.3672;FS=0.526;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.364;SOR=0.764	GT:AD:DP:GQ:PL	0/1:86,62:148:99:1375,0,2062	16	0	3	0
chr7	5603521	5603521	G	A	exonic	FSCN1	.	nonsynonymous SNV	FSCN1:NM_003088:exon3:c.G1015A:p.E339K	.	431	1089	2	0	0	2	0.000917431	.	.	.	2682688	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.055964132668	.	.	4.955e-05	0	0.0002	0	0	6.014e-05	0	0	3.88e-05	6	154602	rs764227580	3.147e-05	3.147e-05	2.995e-05	3.3e-05	0.0002	2.412e-05	2.158e-05	2.995e-05	2.103e-05	0	6.708e-05	0	0	0	0.0002	3.237e-05	0	6.957e-05	2.629e-05	2.627e-05	2.57e-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	0.115	0.28520	T	0.132	0.47336	T	0.608	0.39540	P	0.214	0.37471	B	0.000011	0.62929	D	0.064548	1	0.81001	D	2.07	0.56829	M	1.41	0.33412	T	-2.89	0.64826	D	0.81	0.80572	-0.6851	0.61136	T	0.178	0.52303	T	10	0.6141528	0.67610	D	0.055964	0.66430	D	0.309	0.63055	0.637	0.77361	0.633523892462	0.63052	0.6617210658791691	0.66109	0.989507635279	0.74020	0.683967351913	0.64838	T	0.697199	0.91248	D	-0.0448261	0.45229	T	-0.104523	0.63044	T	0.652997970581055	0.38591	D	0.970903	0.89563	D	0.5590165	0.70455	0.3809626	0.63116	0.5590165	0.70456	0.3809626	0.63116	-11.504	0.82351	D	0.65604121400148	0.72884	0.262	0.49664	B	.;.;.;.	.;.;.;.	4.297880	0.65597	24.9	0.99912301128189029	0.98167	0.97377	0.74364	D	AEFDGBHCI	0.934315	0.92751	D	0.456362012971067	0.64566	4.713932	0.482847432559758	0.66853	5.006513	0.999999999999995	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.45	4.45	0.53365	7.471000	0.79986	8.353000	0.77016	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	16.432	0.83687	929	0.16858	Fascin domain|Fascin domain;Fascin domain|Fascin domain;Fascin domain|Fascin domain;Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3594.33	33	chr7	5603521	.	G	A	3594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=797;ExcessHet=0;FS=3.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=0.579;SOR=1.04	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,92:161:99:0|1:5603514_T_C:3608,0,2491:5603514	18	0	1	0
chr7	5999198	5999198	C	A	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon4:c.G297T:p.Q99H,PMS2:NM_001322004:exon5:c.G210T:p.Q70H,PMS2:NM_001322007:exon5:c.G297T:p.Q99H,PMS2:NM_001322010:exon5:c.G210T:p.Q70H,PMS2:NM_000535:exon6:c.G615T:p.Q205H,PMS2:NM_001322003:exon6:c.G210T:p.Q70H,PMS2:NM_001322005:exon6:c.G210T:p.Q70H,PMS2:NM_001322006:exon6:c.G615T:p.Q205H,PMS2:NM_001322009:exon6:c.G210T:p.Q70H,PMS2:NM_001322014:exon6:c.G615T:p.Q205H,PMS2:NM_001322015:exon6:c.G306T:p.Q102H	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	YES	233567	Hereditary_nonpolyposis_colorectal_neoplasms|not_provided|Lynch_syndrome|Lynch_syndrome_4|Mismatch_repair_cancer_syndrome_4|Hereditary_cancer-predisposing_syndrome	MeSH:D003123,MedGen:C0009405|MedGen:C3661900|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.379	0.0768661380377	.	.	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05	2.59e-05	4	154602	rs752499497	9.577e-06	9.577e-06	9.529e-06	9.626e-06	8.115e-05	5.56e-06	4.35e-06	3.765e-05	2.662e-05	0	0	0	0	1.872e-05	0	3.597e-06	3.312e-05	8.115e-05	1.315e-05	1.314e-05	0	2.692e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.161	0.23631	T	0.231	0.26798	T	1.0	0.90584	D	0.977	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.86	0.49225	L	-0.78	0.73631	T	-2.73	0.66325	D	0.771	0.77507	-0.2984	0.75029	T	0.468	0.79476	T	10	0.35535797	0.52299	T	0.076866	0.72635	D	0.379	0.69696	0.412	0.44887	0.872992548276	0.87175	0.6693669094656114	0.66874	0.259186231862	0.28475	0.471287369728	0.34858	T	0.305663	0.67790	T	-0.0454513	0.45136	T	-0.20621	0.54058	T	0.806205451488495	0.46781	D	0.89771	0.67517	D	0.6285453	0.74221	0.24311186	0.49748	0.6285453	0.74222	0.24311186	0.49746	-5.756	0.44452	T	0.5603961443245065	0.62820	0.263	0.55327	B	.;.;.;.;.;.	.;.;.;.;.;.	3.719787	0.53147	23.3	0.99636365464119547	0.76387	0.89127	0.49408	D	AEFGBI	0.269606	0.38585	N	0.323429285088389	0.57352	3.902298	0.285350104000573	0.54683	3.632586	0.00107282708764821	0.08194	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.65	2.88	0.32617	0.748000	0.25970	1.336000	0.25703	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.568:0.1522:0.2798	5.253	0.14849	867	0.32089	DNA mismatch repair protein family, N-terminal;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1556.33	42	chr7	5999198	.	C	A	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.073;DP=905;ExcessHet=0;FS=3.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.203;SOR=0.588	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1570,0,1753	18	0	1	0
chr7	7572944	7572944	C	T	exonic	MIOS	.	nonsynonymous SNV	MIOS:NM_001370077:exon2:c.C469T:p.P157S,MIOS:NM_001370078:exon2:c.C469T:p.P157S,MIOS:NM_001370080:exon2:c.C469T:p.P157S,MIOS:NM_001370076:exon3:c.C469T:p.P157S,MIOS:NM_019005:exon4:c.C469T:p.P157S	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00214407481956	.	.	3.317e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs764036994	1.437e-05	1.436e-05	4.084e-06	2.475e-05	0.0002	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0002	1.972e-05	1.969e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.033e-05	0	0	0	0	0	0	0	0	0	0.0006	0.176	0.22312	T	0.76	0.06147	T	0.0	0.02946	B	0.0	0.01387	B	0.000108	0.50451	D	0.173723	0.999833	0.49637	D	0.345	0.11182	N	0.74	0.50459	T	0.4	0.03463	N	0.147	0.14905	-1.0715	0.09086	T	0.065	0.26913	T	10	0.09358716	0.16575	T	0.002144	0.03989	T	0.091	0.26358	0.366	0.37361	0.480046427281	0.47636	0.16919716769481669	0.16839	0.230400222297	0.25588	0.429964601994	0.29203	T	0.016949	0.13915	T	-0.406572	0.02095	T	-0.547489	0.17567	T	0.0484422213025863	0.05223	T	0.751425	0.38711	T	0.042015158	0.06295	0.05603604	0.09939	0.042015158	0.06294	0.05603604	0.09939	-2.177	0.03930	T	.	.	0.069	0.04119	B	.;.;.	.;.;.	2.532519	0.32744	19.13	0.814659289765164	0.13699	0.83253	0.42385	D	AEFDGBCI	0.212359	0.33805	N	-0.196051530506343	0.33297	1.887554	0.046986355639376	0.41925	2.527149	0.99998771470119	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	1.985000	0.40289	3.957000	0.40718	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.1306:0.7272:0.1422:0.0	11.472	0.49522	670	0.60992	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1983.33	39	chr7	7572944	.	C	T	1983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=797;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.335;SOR=0.856	GT:AD:DP:GQ:PL	0/1:89,72:161:99:1997,0,2450	18	0	1	0
chr7	12344254	12344254	C	A	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001346972:exon19:c.G3674T:p.C1225F,VWDE:NM_001346973:exon19:c.G3209T:p.C1070F,VWDE:NM_001135924:exon21:c.G4019T:p.C1340F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.0917625767254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.148e-07	6.84e-07	0	1.449e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.002	0.79402	D	0.987	0.61912	D	0.571	0.49890	P	0.000000	0.84330	D	0.054557	0.98598	0.40363	D	3.705	0.94653	H	0.24	0.59583	T	-6.38	0.91100	D	0.742	0.91391	0.185	0.85657	D	0.389	0.74386	T	10	0.97945124	0.97870	D	0.091763	0.75766	D	0.396	0.71084	0.983	0.99835	0.515882253919	0.51231	0.9804680047503459	0.98037	.	.	0.572542667389	0.49037	T	0.247183	0.81540	T	0.185471	0.72547	D	0.0286397	0.72189	D	0.994047880172729	0.85117	D	0.829717	0.49916	T	0.8416449	0.86725	0.79307973	0.87837	0.8416449	0.86727	0.79307973	0.87837	-12.4	0.86745	D	.	.	0.922	0.84365	P	.;.	.;.	4.196356	0.63292	24.6	0.99162454143177636	0.54127	0.97819	0.77366	D	AEFBI	0.819181	0.74026	D	0.704916050437742	0.79956	7.188403	0.615202772817415	0.76043	6.41891	0.999973774130031	0.50053	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.08	4.08	0.46880	5.182000	0.64897	2.247000	0.31658	0.549000	0.26987	1.000000	0.71638	0.988000	0.31051	0.996000	0.76049	0.0:1.0:0.0:0.0	16.819	0.85603	848	0.35897	EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	40	chr7	12344254	.	C	A	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.818;DP=778;ExcessHet=0;FS=2.211;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=1.45;SOR=0.515	GT:AD:DP:GQ:PL	0/1:90,60:150:99:1448,0,2442	18	0	1	0
chr7	20159793	20159793	G	-	exonic	MACC1	.	frameshift deletion	MACC1:NM_182762:exon5:c.568delC:p.R190Afs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs749160800	9.03e-05	9.098e-05	3.403e-05	0.0001	0.0015	7.757e-05	7.3e-05	0.0013	0.0012	2.987e-05	0	0	0	0	0	0	3.312e-05	0.0015	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2293.29	49	chr7	20159792	.	CG	C	2293.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.949;DP=865;ExcessHet=0;FS=6.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.55;SOR=0.38	GT:AD:DP:GQ:PL	0/1:91,79:170:99:2307,0,2717	18	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1845.33	33	chr7	27094574	.	GACCC	G	1845.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.915;DP=1478;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=1.51;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,30:188:99:0|1:27094574_GACCC_G:343,0,6172:27094574	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1783.33	33	chr7	27094578	.	C	CGGGG	1783.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=1454;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=2.06;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,28:186:99:0|1:27094574_GACCC_G:310,0,6178:27094574	14	0	5	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:64,25:89:11:11,0,1301	10	0	9	0
chr7	44113771	44113771	T	C	exonic	AEBP1	.	nonsynonymous SNV	AEBP1:NM_001129:exon21:c.T2987C:p.M996T	.	425	1095	2	0	0	2	0.000912409	.	.	.	2140304	not_provided|AEBP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.090	.	.	0.00279553	0.0012	9.623e-05	8.637e-05	0	0	0	0.0011	0.0083	0.001009	156	154602	rs551347012	0.0004	0.0004	0.0003	0.0006	0.0068	0.0004	0.0004	0.0063	0.0061	0	2.236e-05	0	0	0	0.0003	4.496e-06	0.0008	0.0068	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0.0002	0	0	1.471e-05	0	0.0089	0.048	0.40068	D	0.329	0.18617	T	0.038	0.44062	B	0.053	0.37260	B	0.000006	0.62929	D	0.078268	0.99572	0.42826	D	1.79	0.46772	L	2.61	0.13095	T	-1.18	0.30140	N	0.471	0.62611	-1.0678	0.09903	T	0.027	0.11707	T	10	0.0061174035	0.00138	T	.	.	.	0.090	0.26093	0.327	0.31034	0.248417906384	0.24464	0.6012272663287493	0.60053	0.817834884163	0.67014	0.679500758648	0.64196	T	0.111132	0.42639	T	-0.429113	0.01500	T	-0.384742	0.35166	T	0.0350731201890645	0.02820	T	0.675032	0.28342	T	0.28014028	0.51062	0.2662792	0.52471	0.24521752	0.47478	0.24864541	0.50418	-8.598	0.65076	D	.	.	0.760	0.75478	P	.;.	.;.	3.587111	0.50598	23.0	0.98115957007509813	0.38391	0.92245	0.55270	D	AEFDGBHCI	0.659737	0.63055	D	0.0150708359732349	0.42540	2.565107	0.14949877025313	0.47116	2.946673	0.999999999983237	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	1.707000	0.37507	7.807000	0.69316	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.736	0.69031	632	0.64850	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2916.33	33	chr7	44113771	.	T	C	2916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.272;DP=946;ExcessHet=0;FS=1.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.31;SOR=0.67	GT:AD:DP:GQ:PL	0/1:175,132:307:99:2930,0,4457	18	0	1	0
chr7	47811980	47811980	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon50:c.C7418T:p.S2473F	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	416	1105	1	0	0	1	0.000452284	.	.	.	1036857	not_provided|Heterotaxy,_visceral,_8,_autosomal|PKD1L1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0014967,MedGen:C4310668,OMIM:617205|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.270	0.0296333714007	0.0009	0.000199681	0.0015	0	0.0007	0	0	0.0015	0.0045	0.0034	0.0008797	136	154602	rs140456142	0.0013	0.0013	0.0012	0.0013	0.0026	0.0012	0.0012	0.0023	0.0022	0.0002	0.0006	0.0020	2.576e-05	0.0001	0.0012	0.0013	0.0015	0.0026	0.0009	0.0009	0.0009	0.0008	0.0017	0.0007	0.0007	0.0011	0.0010	0.0002	0	0.0010	0.0026	0	9.406e-05	0	0.0013	0.0014	0.0017	0.085	0.32769	T	0.037	0.51737	D	0.651	0.40707	P	0.289	0.40655	B	0.457613	0.12431	N	0.725348	0.999984	0.18198	N	1.935	0.51832	L	0.08	0.61559	T	-0.54	0.16598	N	0.623	0.63798	-1.0678	0.09903	T	0.090	0.34655	T	10	0.028206915	0.00956	T	0.029633	0.52109	D	0.270	0.58507	.	.	0.935548508261	0.93488	0.4438399725372522	0.44301	0.271124031238	0.29636	0.386809438467	0.23218	T	0.017857	0.14499	T	-0.361031	0.04072	T	-0.295676	0.45180	T	0.0249867314119857	0.01270	T	0.70513	0.31558	T	0.1806535	0.39197	0.21568714	0.46167	0.1806535	0.39197	0.21568714	0.46166	-2.792	0.08110	T	0.6192315395214746	0.68745	0.284	0.51695	B	.	.	2.735043	0.35810	20.0	0.98125612450548616	0.38473	0.03918	0.09304	N	AEFDGBI	0.056124	0.10350	N	-0.34591742054695	0.27423	1.504401	-0.25238099892343	0.29689	1.665401	0.99965724640242	0.41424	0.516011	0.20929	0	0.610034	0.51514	0	0.573078	0.19857	0	0.567892	0.33627	0	.	.	5.49	4.55	0.55429	0.826000	0.27061	4.025000	0.41286	0.606000	0.46413	0.001000	0.13787	0.947000	0.28924	0.960000	0.51673	0.0:0.166:0.6623:0.1717	8.508	0.32360	946	0.12043	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	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	0.001517	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1760.33	33	chr7	47811980	.	G	A	1760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.699;DP=739;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.445;SOR=0.608	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1774,0,1398	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1923	628.94	36	chr7	47829595	.	G	C	628.94	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.169;DP=1751;ExcessHet=1.3;FS=181.294;InbreedingCoeff=-0.2531;MLEAC=6;MLEAF=0.231;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=-0.191;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,27:97:86:0|1:47829595_G_C:86,0,1710:47829595	8	0	5	6
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,27:97:86:0|1:47829595_G_C:86,0,1710:47829595	4	0	15	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,17:96:19:0|1:48103308_C_G:19,0,2619:48103308	6	0	12	1
chr7	57121147	57121147	G	A	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.C268T:p.R90C,ZNF479:NM_033273:exon5:c.C268T:p.R90C	.	483	1038	1	0	0	1	0.000481464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0042	0.00439297	0.0012	0.0137	0.0010	0.0002	0	7.728e-05	0.0022	0	0.0009989	26	26028	rs182993647	0.0004	0.0004	0.0005	0.0004	0.0141	0.0004	0.0004	0.0130	0.0126	0.0141	0.0016	0	5.04e-05	0	0.0002	4.407e-05	0.0009	6.959e-05	0.0044	0.0044	0.0048	0.0040	0.0141	0.0041	0.0040	0.0132	0.0128	0.0141	0	0.0044	0	0	0	0	0.0001	0.0038	0	1.0	0.00964	T	0.239	0.24477	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.38	0.00079	N	3.25	0.06762	T	8.97	0.00000	N	0.077	0.10056	-0.9259	0.44730	T	0.003	0.00864	T	9	0.0064363778	0.00146	T	.	.	.	0.038	0.09825	.	.	0.110078149338	0.10416	0.02317450272037146	0.02269	1.16391528366	0.79565	0.387476801872	0.23314	T	0.002098	0.03111	T	-0.795781	0.00008	T	-0.904184	0.00474	T	0.00785624774531025	0.00092	T	0.116288	0.00910	T	0.0629589	0.13206	0.040598053	0.04426	0.0629589	0.13205	0.040598053	0.04426	1.66	0.00071	T	.	.	0.076	0.08224	B	.;.;.	.;.;.	0.143985	0.05374	1.855	0.053382169323856074	0.00010	0.00028	0.00265	N	AEFBI	0.013795	0.00196	N	-1.81444514302667	0.00511	0.0219818	-1.84487087607681	0.00626	0.02782346	3.43951926742556E-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	-1.503000	0.02381	.	.	-0.797000	0.03199	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3074:0.2392:0.2151:0.2384	0.075	0.00023	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001060	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1409.33	33	chr7	57121147	.	G	A	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.866;DP=897;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.77;MQRankSum=-1.054;QD=12.15;ReadPosRankSum=-0.733;SOR=0.813	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1423,0,1725	18	0	1	0
chr7	66152274	66152274	A	G	exonic	CRCP	.	nonsynonymous SNV	CRCP:NM_001040648:exon3:c.A133G:p.S45G,CRCP:NM_001040647:exon5:c.A265G:p.S89G,CRCP:NM_001142414:exon5:c.A343G:p.S115G,CRCP:NM_014478:exon6:c.A364G:p.S122G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0042	0.00359425	0.0014	0.0128	0.0020	0	0	0.0001	0	0.0002	0.0013066	202	154602	rs147755294	0.0005	0.0005	0.0006	0.0005	0.0144	0.0005	0.0005	0.0133	0.0129	0.0144	0.0018	0	0	0	0.0017	0.0001	0.0009	9.275e-05	0.0040	0.0040	0.0041	0.0040	0.0136	0.0038	0.0037	0.0127	0.0123	0.0136	0	0.0022	0	0	0	0	0.0002	0.0014	0	0.086	0.34982	T	0.008	0.67890	D	0.149	0.29618	B	0.122	0.32387	B	0.000463	0.44119	D	0.300219	0.959686	0.38140	D	1.385	0.34509	L	.	.	.	-2.15	0.56466	N	0.272	0.35301	-0.9229	0.45155	T	0.106	0.38709	T	8	0.0075749755	0.00172	T	.	.	.	0.060	0.17295	.	.	0.0884992946249	0.08302	0.1751877742518727	0.17437	0.308637158166	0.33177	0.555451989174	0.46626	T	0.045975	0.27284	T	-0.420357	0.01701	T	-0.364914	0.37482	T	0.0437102556112618	0.04368	T	0.817118	0.47377	T	0.08186406	0.18832	0.08856646	0.20659	0.08186406	0.18832	0.08856646	0.20658	-6.653	0.54508	T	.	.	0.064	0.11366	B	.;.;.;.;.	.;.;.;.;.	2.782182	0.36545	20.3	0.9935641518592816	0.60820	0.79759	0.39586	D	ALL	0.270832	0.38682	N	0.101861196864354	0.46550	2.893581	0.205063262398794	0.50128	3.208136	0.999999999813563	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.27	5.27	0.73797	3.748000	0.54860	7.502000	0.59501	0.756000	0.94297	0.985000	0.35982	1.000000	0.68203	0.724000	0.34901	1.0:0.0:0.0:0.0	11.518	0.49787	500	0.76024	.;RNA polymerase Rpb4/RPC9, core;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1317.33	38	chr7	66152274	.	A	G	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.949;DP=789;ExcessHet=0;FS=3.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.692;SOR=0.808	GT:AD:DP:GQ:PL	0/1:89,64:153:99:1331,0,2329	18	0	1	0
chr7	73834795	73834795	G	A	exonic	METTL27	.	nonsynonymous SNV	METTL27:NM_152559:exon6:c.C686T:p.P229L	.	403	1113	6	0	0	6	0.00268817	.	.	.	2825761	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0179870162932	0.0005	0.000798722	0.0009	9.722e-05	0.0006	0	0.0011	0.0010	0.0022	0.0016	0.0008021	124	154602	rs139220872	0.0006	0.0006	0.0005	0.0007	0.0015	0.0006	0.0005	0.0013	0.0012	0.0003	0.0004	0.0038	2.519e-05	0.0015	0.0012	0.0004	0.0008	0.0015	0.0005	0.0005	0.0005	0.0006	0.0014	0.0004	0.0004	0.0007	0.0005	2.406e-05	0	0.0002	0.0035	0	0.0008	0.0034	0.0007	0.0005	0.0014	0.995	0.01946	T	0.197	0.27855	T	0.0	0.02946	B	0.001	0.04355	B	0.000517	0.00624	N	3.098100	0.99943	0.21199	N	.	.	.	0.92	0.44461	T	-0.29	0.11728	N	0.03	0.00717	-1.0207	0.23486	T	0.032	0.13767	T	10	0.0017281771	0.00022	T	0.017987	0.39899	T	0.059	0.16972	.	.	0.0401082797425	0.02173	0.2841744814303522	0.28330	0.122856019318	0.13844	0.307415008545	0.11517	T	0.003554	0.02960	T	-0.682474	0.00046	T	-0.777731	0.02523	T	0.0157878852309769	0.00367	T	0.443756	0.12347	T	0.039662488	0.05518	0.03416285	0.02434	0.039662488	0.05517	0.03416285	0.02434	-3.54	0.16996	T	.	.	0.086	0.10835	B	.	.	-2.422672	0.00038	0.001	0.88556418225459899	0.18070	0.01115	0.04074	N	AEFDBHI	0.060564	0.11517	N	-1.73385461176364	0.00728	0.03145704	-1.74896364736272	0.00937	0.04194358	0.999999999906819	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.25	-10.5	0.00234	-6.282000	0.00089	-15.176000	0.00368	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.893000	0.43066	0.3719:0.4667:0.1615:0.0	8.734	0.33679	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1327.33	34	chr7	73834795	.	G	A	1327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=740;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.416;SOR=0.602	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1341,0,1361	18	0	1	0
chr7	75440980	75440980	G	C	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon5:c.C201G:p.F67L	.	426	1091	5	0	0	5	0.00228624	.	.	.	2338727	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00160034460987	0.0008	0.000399361	0.0010	9.612e-05	8.637e-05	0	0.0006	0.0014	0	0.0010	0.0003458	9	26028	rs201581797	0.0007	0.0007	0.0007	0.0008	0.0023	0.0007	0.0007	0.0013	0.0011	0	6.709e-05	0.0010	5.038e-05	0.0003	0.0023	0.0008	0.0005	0.0011	0.0008	0.0008	0.0010	0.0006	0.0015	0.0007	0.0006	0.0013	0.0012	2.406e-05	0	0.0003	0.0006	0	0.0004	0	0.0015	0	0.0006	.	.	.	0.657	0.08134	T	0.022	0.18677	B	0.015	0.17295	B	0.964401	0.07738	N	1.022090	1	0.08975	N	1.245	0.31408	L	.	.	.	.	.	.	0.194	0.25989	-1.0194	0.23910	T	0.022	0.09421	T	10	0.0076721013	0.00174	T	0.002	0.02574	T	.	.	0.279	0.23323	0.0297737177859	0.01360	0.11341304815981385	0.11269	.	.	0.486728549004	0.36985	T	0.016277	0.13483	T	-0.438505	0.01320	T	-0.443192	0.28451	T	0.0120436892255986	0.00190	T	0.608539	0.23687	T	0.10604403	0.25075	0.11791089	0.28463	0.10604403	0.25075	0.11791089	0.28463	-2.071	0.03461	T	.	.	0.362	0.63904	A	.;.	.;.	-0.788438	0.01130	0.052	0.65039823250916484	0.07661	0.05330	0.11183	N	AEFBI	0.055768	0.10256	N	-1.41036187583676	0.02547	0.1126107	-1.55616114730127	0.01934	0.08824471	0.999999187971935	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.27	-7.33	0.01284	-1.188000	0.03173	-0.619000	0.08183	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.313:0.0:0.687:0.0	14.739	0.69054	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001773	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1539.33	47	chr7	75440980	.	G	C	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=947;ExcessHet=0;FS=10.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.02;MQRankSum=-3.834;QD=13.5;ReadPosRankSum=0.27;SOR=0.223	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1553,0,1371	18	0	1	0
chr7	75554511	75554511	G	A	exonic	HIP1	.	nonsynonymous SNV	HIP1:NM_001243198:exon20:c.C1979T:p.T660M,HIP1:NM_001382444:exon20:c.C1877T:p.T626M,HIP1:NM_001382445:exon20:c.C1892T:p.T631M,HIP1:NM_005338:exon20:c.C1979T:p.T660M	.	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0153552294186	7.7e-05	.	0.0003	0	0	0.0005	0	0.0002	0	0.0009	0.0002199	34	154602	rs200918019	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0	2.236e-05	0	0.0004	0	0.0021	0.0002	0.0002	0.0010	0.0001	0.0001	0.0002	9.416e-05	0.0006	8.17e-05	6.726e-05	0.0002	9.896e-05	0	0	0.0001	0	0	0	0	0.0002	0	0.0006	0.025	0.47320	D	0.038	0.55759	D	0.208	0.29916	B	0.111	0.31539	B	0.243850	0.15653	N	0.678176	1	0.08975	N	1.1	0.28011	L	2.82	0.13095	T	-0.1	0.08495	N	0.173	0.23125	-1.0167	0.24787	T	0.015	0.06090	T	10	0.022976846	0.00588	T	0.015355	0.36047	T	0.032	0.07718	.	.	0.117191471859	0.11215	0.37539357960771996	0.37453	0.358169936136	0.37530	0.272308409214	0.06444	T	0.081318	0.36568	T	-0.60718	0.00132	T	-0.701297	0.05755	T	0.0279538958731251	0.01681	T	0.90401	0.66975	D	0.017013725	0.00239	0.0312181	0.01680	0.017013725	0.00239	0.0312181	0.01680	-5.229	0.40591	T	.	.	0.072	0.11893	B	.;.;.	.;.;.	1.982121	0.25182	16.67	0.96958864639654396	0.31771	0.07750	0.13750	N	AEFDBI	0.065269	0.12721	N	-0.87596498889861	0.11416	0.5508061	-0.951658870993519	0.10884	0.5511062	0.972602077563428	0.29385	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	-2.96	0.05212	0.391000	0.20511	1.993000	0.30087	0.675000	0.71128	0.228000	0.24622	0.992000	0.31684	0.122000	0.19250	0.1114:0.2384:0.4591:0.1911	3.151	0.06098	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1367.33	39	chr7	75554511	.	G	A	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=775;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.556;SOR=0.492	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1381,0,1293	18	0	1	0
chr7	75986234	75986234	G	A	exonic	POR	.	nonsynonymous SNV	POR:NM_001382662:exon14:c.G1741A:p.V581I,POR:NM_000941:exon15:c.G1891A:p.V631I,POR:NM_001382659:exon15:c.G1891A:p.V631I,POR:NM_001367562:exon16:c.G1891A:p.V631I,POR:NM_001382655:exon16:c.G1945A:p.V649I,POR:NM_001382657:exon16:c.G1891A:p.V631I,POR:NM_001382658:exon16:c.G1891A:p.V631I	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	0	1498	23	1	0	25	0.00827541	.	.	.	268412	POR-related_disorder|Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis|Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency|not_provided	.|MONDO:MONDO:0008726,MedGen:C3150099,OMIM:201750,Orphanet:63269|MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.101863777252	0.0013	0.00239617	0.0017	0.0004	0.0023	0	0.0009	0.0015	0.0012	0.0045	0.0015912	246	154602	rs145782750	0.0014	0.0014	0.0013	0.0015	0.0052	0.0014	0.0014	0.0040	0.0038	0.0002	0.0022	0.0008	2.519e-05	0.0008	0.0052	0.0013	0.0017	0.0043	0.0012	0.0012	0.0014	0.0010	0.0042	0.0011	0.0010	0.0028	0.0023	0.0005	0	0.0018	0.0012	0	0.0003	0.0068	0.0015	0.0024	0.0042	0.648	0.13925	T	0.486	0.14818	T	.	.	.	.	.	.	0.000096	0.51296	D	0.133496	0.99998	0.81001	D	.	.	.	-1.31	0.79666	T	-0.39	0.13611	N	0.403	0.69913	-0.6161	0.64151	T	0.312	0.68220	T	10	0.01781547	0.00383	T	0.101864	0.77500	D	0.410	0.72176	.	.	0.786541166568	0.78456	0.2799518002776957	0.27908	0.0987441259954	0.11157	0.532380521297	0.43370	T	.	.	.	-0.177389	0.24125	T	-0.0281043	0.68494	D	0.00877987643650732	0.00108	T	0.919408	0.70943	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.16670	B	.;.;.	.;.;.	2.426501	0.31206	18.67	0.83963074634987866	0.15019	0.77817	0.38307	D	AEFDBCI	0.383177	0.46478	N	-0.288807445490312	0.29580	1.64161	-0.161039866589119	0.32986	1.882163	0.996289580345896	0.34642	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.46	3.46	0.38718	2.167000	0.42042	5.046000	0.46955	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.267000	0.23694	0.0:0.0:1.0:0.0	15.162	0.72477	601	0.67921	.;.;Oxidoreductase FAD/NAD(P)-binding|Flavoprotein pyridine nucleotide cytochrome reductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.008772	0.000000	0.000000	0.009146	0.007576	0.02632	1923.33	44	chr7	75986234	.	G	A	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=900;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.354;SOR=0.669	GT:AD:DP:GQ:PL	0/1:98,76:174:99:1937,0,2480	18	0	1	0
chr7	76429540	76429540	G	A	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon2:c.G338A:p.S113N,ZP3:NM_007155:exon3:c.G185A:p.S62N	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.000000	0.002924	0.050000	0.000000	0.003049	0.003788	0.02632	2132.33	42	chr7	76429540	.	G	A	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=890;ExcessHet=0;FS=0.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.132;SOR=0.627	GT:AD:DP:GQ:PL	0/1:83,82:165:99:2146,0,2043	18	0	1	0
chr7	87382456	87382456	G	C	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon13:c.G1214C:p.G405A,CROT:NM_001143935:exon14:c.G1298C:p.G433A	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.966	0.53457143766	.	0.000399361	0.0001	0	0	0	0	3.004e-05	0	0.0009	0.0001229	19	154602	rs550173790	7.8e-05	7.798e-05	3.54e-05	0.0001	0.0009	6.601e-05	6.143e-05	0.0007	0.0007	0	0	0	0	1.873e-05	0.0007	2.069e-05	0.0001	0.0009	3.943e-05	3.938e-05	1.286e-05	6.719e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.471e-05	0	0.0010	0.005	0.63226	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	4.05	0.97045	H	-5.18	0.98824	D	-5.3	0.84387	D	0.942	0.96984	1.048	0.98067	D	0.983	0.99469	D	10	0.95088804	0.94425	D	0.534571	0.95638	D	0.966	0.99545	0.951	0.99428	0.952249981539	0.95174	0.9252915045689676	0.92506	0.213525769304	0.23869	0.57022601366	0.48710	T	0.886056	0.97648	D	0.278158	0.81159	D	0.57043	0.96231	D	0.523753061078761	0.33503	D	0.953705	0.82322	D	0.8488408	0.87250	0.8585619	0.92081	0.8488408	0.87251	0.8585619	0.92081	-10.533	0.78252	D	.	.	0.719	0.80183	P	.;.;.	.;.;.	5.020275	0.83434	28.0	0.99848925909396136	0.92838	0.99111	0.91387	D	AEFGBI	0.909591	0.86643	D	1.05208667083007	0.97139	15.64767	0.976045759910094	0.98108	17.44581	0.999999995265677	0.74766	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	8.725000	0.91200	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.095	0.97834	489	0.76795	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase 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	0.001007	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1888.33	33	chr7	87382456	.	G	C	1888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=832;ExcessHet=0;FS=2.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.381;SOR=0.895	GT:AD:DP:GQ:PL	0/1:117,82:199:99:1902,0,2877	18	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,34:197:99:0|1:93102964_C_G:164,0,6045:93102964	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,34:197:99:0|1:93102964_C_G:164,0,6045:93102964	5	0	14	0
chr7	94664113	94664113	A	G	exonic	PEG10	.	nonsynonymous SNV	PEG10:NM_001040152:exon2:c.A557G:p.N186S,PEG10:NM_001172438:exon2:c.A785G:p.N262S,PEG10:NM_001184962:exon2:c.A659G:p.N220S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00587106976844	0.0002	0.000199681	0.0004	0.0001	0.0003	0	0	0.0002	0	0.0018	0.0003105	48	154602	rs200638421	0.0003	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	5.974e-05	0.0002	0	0	0	0.0026	0.0002	0.0003	0.0015	0.0001	0.0001	7.71e-05	0.0001	0.0012	7.087e-05	5.744e-05	0.0005	0.0004	9.622e-05	0	6.536e-05	0	0	0	0	8.821e-05	0	0.0012	0.813	0.03013	T	0.353	0.32249	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	2.77	0.11407	T	0.66	0.02297	N	0.195	0.25989	-0.9297	0.44183	T	0.014	0.05417	T	9	0.008751482	0.00198	T	0.005871	0.15281	T	0.036	0.09122	.	.	0.228066490088	0.22430	0.346831035714269	0.34597	1.20088527153	0.80543	0.524010062218	0.42190	T	0.014664	0.12634	T	-0.481897	0.00721	T	-0.484002	0.24022	T	0.0123804421005519	0.00202	T	0.716728	0.32905	T	.	.	.	.	.	.	.	.	-4.677	0.33125	T	.	.	0.092	0.26545	B	.;.;.;.;.;.	.;.;.;.;.;.	1.732817	0.22052	15.46	0.64619781024701828	0.07544	0.12703	0.17429	N	AEFDGBCI	0.086295	0.17495	N	-0.825660929755817	0.12656	0.6183297	-0.753957091960486	0.15625	0.8227058	0.993718491519024	0.33326	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.05	1.71	0.23429	1.196000	0.31807	5.923000	0.51195	0.751000	0.87719	0.001000	0.13787	1.000000	0.68203	0.416000	0.27139	0.5807:0.2074:0.212:0.0	3.412	0.06935	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2955.33	34	chr7	94664113	.	A	G	2955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.24;DP=881;ExcessHet=0;FS=2.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=1.36;SOR=0.555	GT:AD:DP:GQ:PL	0/1:144,109:253:99:2969,0,4021	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,64:124:99:0|1:100175805_G_C:1709,0,1804:100175805	1	0	18	0
chr7	100487035	100487035	G	A	exonic	NYAP1	.	nonsynonymous SNV	NYAP1:NM_173564:exon3:c.G283A:p.G95R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.061102619389	.	.	9.673e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs745503115	6.195e-06	6.84e-06	5.473e-06	6.926e-06	5.417e-06	2.92e-06	2.11e-06	1.95e-06	1.28e-06	0	0	3.88e-05	0	0	0	5.417e-06	3.343e-05	0	1.315e-05	1.314e-05	0	2.692e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	9.413e-05	0	0	0	0	0.002	0.72154	D	0.095	0.47336	T	1.0	0.90584	D	0.998	0.88582	D	0.002406	0.36612	N	0.123897	0.958308	0.38068	D	1.935	0.51832	L	0.95	0.43279	T	-2.2	0.49519	N	0.639	0.65159	-0.8052	0.54837	T	0.178	0.52334	T	10	0.43126094	0.57505	T	0.061103	0.68222	D	0.193	0.47281	0.168	0.07302	0.223474106383	0.21959	0.1638896595312786	0.16308	0.337990986276	0.35776	0.836685657501	0.87589	D	0.071344	0.34184	T	0.171755	0.71285	D	0.00893784	0.70914	D	0.729941427707672	0.42207	D	0.826217	0.48957	T	0.26659507	0.49730	0.3873369	0.63604	0.26659507	0.49730	0.3873369	0.63604	-7.633	0.58541	D	.	.	0.280	0.58976	B	.;.	.;.	4.173413	0.62768	24.5	0.99920648181369953	0.98721	0.93858	0.59395	D	AEFDBI	0.481154	0.52257	N	0.522512944857669	0.68422	5.215227	0.504035530973643	0.68263	5.195756	0.999999835272347	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	3.722000	0.54675	6.402000	0.55579	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.816000	0.38450	0.0:0.0:1.0:0.0	13.193	0.59145	362	0.84826	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	626.33	33	chr7	100487035	.	G	A	626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.98;DP=679;ExcessHet=0;FS=5.288;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.496;SOR=1.304	GT:AD:DP:GQ:PL	0/1:39,22:61:99:640,0,963	18	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,109:109:99:1|1:100773849_CCAT_C:4896,328,0:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,85:85:99:3760,262,0	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,161:672:99:0|1:100952942_T_G:5400,0,18495:100952942	5	0	14	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:380,117:532:99:.:.:3763,0,15688:.	2	0	17	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	86464.0	854	chr7	100960582	.	T	*	86464.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.881;DP=11676;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.041;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,134:612:99:0|1:100960582_T_A:6059,0,14271:100960582	14	0	5	0
chr7	101039550	101039550	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8134G:p.L2712V	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000781276601277	.	.	0.0030	0.0083	0.0006	0.0003	0.0005	0.0021	0.0046	0.0073	0.0001921	5	26028	rs34223735	0.0001	0.0043	0.0001	9.773e-05	0.0004	8.755e-05	8.202e-05	0.0002	0.0001	0.0003	0.0003	0.0004	0	8.064e-05	0.0004	7.913e-05	0.0001	0.0002	0.0003	0.0042	0.0003	0.0003	0.0008	0.0003	0.0002	0.0005	0.0005	0.0008	0	0.0002	0.0006	0	0.0002	0	0.0002	0	0.0005	0.815	0.02997	T	.	.	.	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.24	0.63355	M	3.72	0.04014	T	-0.03	0.07444	N	0.025	0.00485	-0.8996	0.48034	T	0.008	0.02638	T	9	0.0071575046	0.00163	T	7.81E-4	0.00588	T	0.016	0.02506	.	.	0.0297737177859	0.01360	2.0119481350893312E-4	0.00018	.	.	0.265403211117	0.05551	T	0.017487	0.14257	T	-0.647203	0.00075	T	-0.818008	0.01493	T	0.0070488288473037	0.00080	T	0.450755	0.12737	T	0.024162995	0.01221	0.026087591	0.00681	0.024162995	0.01220	0.026087591	0.00681	-6.702	0.51825	T	.	.	0.076	0.05979	B	.	.	-0.826475	0.01056	0.045	0.18895823547176302	0.00614	0.00051	0.00397	N	AEFBI	0.027221	0.02186	N	-1.34471005500907	0.03180	0.1416276	-1.44487053766457	0.02817	0.1302663	9.78263166577098E-5	0.04910	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	-4.229000	0.00307	-7.510000	0.01142	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	2.0E-4:0.5059:0.4937:2.0E-4	3.650	0.07736	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.041226	0.075758	0.027174	0.040984	0.050000	0.034483	0.048780	0.041667	0.02632	60.33	913	chr7	101039550	.	C	G	60.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.536;DP=6311;ExcessHet=0;FS=2.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.7;MQRankSum=-5.719;QD=0.08;ReadPosRankSum=-7.799;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:697,61:758:74:0|1:101039550_C_G:74,0,20279:101039550	18	0	1	0
chr7	101039562	101039562	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8146G:p.P2716A	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	.	0.0137	0.0394	0.0049	0.0026	0.0104	0.0116	0.0190	0.0220	0.0105044	1624	154602	rs34924040	0.0007	0.0081	0.0007	0.0007	0.0024	0.0007	0.0006	0.0019	0.0017	0.0024	0.0009	0.0017	0.0002	0.0006	0.0021	0.0006	0.0008	0.0016	0.0012	0.0064	0.0011	0.0012	0.0024	0.0010	0.0009	0.0019	0.0018	0.0024	0	0.0009	0.0013	0.0004	0.0007	0	0.0007	0.0017	0.0010	0.248	0.17239	T	.	.	.	0.103	0.25884	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.69	0.43327	L	4.48	0.02067	T	-0.19	0.09965	N	0.014	0.00160	-0.9124	0.46556	T	0.004	0.01226	T	9	0.0053680837	0.00118	T	.	.	.	0.012	0.01476	.	.	.	.	4.351784600750031E-4	0.00039	.	.	0.237647771835	0.02582	T	0.018404	0.14841	T	-0.6758	0.00051	T	-0.745938	0.03646	T	0.00451004422584081	0.00048	T	0.514149	0.16548	T	0.018670741	0.00389	0.02857356	0.01105	0.018670741	0.00389	0.02857356	0.01105	-7.397	0.56883	T	.	.	0.064	0.01692	B	.	.	-1.510381	0.00289	0.005	0.84204015189437531	0.15156	0.00288	0.01547	N	AEFBI	0.044115	0.07058	N	-1.49164389999368	0.01908	0.08375649	-1.58357412614577	0.01756	0.07985968	1.10617532699769E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.21	-1.03	0.09586	-6.730000	0.00069	-20.000000	0.00162	-3.356000	0.00093	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5746:0.2449:0.1805	4.008	0.09100	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	193.14	913	chr7	101039562	.	C	G	193.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.199;DP=6824;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.63;MQRankSum=-4.215;QD=0.24;ReadPosRankSum=-7.162;SOR=0.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:714,82:796:99:0|1:101039550_C_G:206,0,28688:101039550	16	0	1	2
chr7	101133833	101133833	A	G	exonic	SERPINE1	.	nonsynonymous SNV	SERPINE1:NM_000602:exon5:c.A839G:p.Q280R	Plasminogen activator inhibitor-1 deficiency, Autosomal recessive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0298167957952	.	0.000399361	0.0001	0	0	0	0	1.499e-05	0	0.0010	0.0001229	19	154602	rs543475314	6.225e-05	6.225e-05	3.947e-05	8.525e-05	0.0008	5.161e-05	4.78e-05	0.0006	0.0006	2.987e-05	2.236e-05	0	2.519e-05	0	0.0002	1.349e-05	4.967e-05	0.0008	4.597e-05	4.593e-05	5.141e-05	4.029e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	2.406e-05	0	6.54e-05	0	0	0	0	0	0	0.0010	0.07	0.35349	T	0.097	0.39190	T	0.122	0.26746	B	0.166	0.35067	B	0.074176	0.21301	N	0.502752	0.957907	0.26244	N	1.32	0.33002	L	-1.83	0.84122	D	-0.98	0.25986	N	0.107	0.09207	-0.4560	0.70201	T	0.437	0.77638	T	10	0.033171296	0.01486	T	0.029817	0.52254	D	0.246	0.55340	.	.	0.918063994107	0.91724	0.4714547112127315	0.47064	0.250606575556	0.27630	0.367015331984	0.20402	T	0.212541	0.57361	T	-0.296538	0.08990	T	-0.263488	0.48475	T	0.118684321641922	0.14301	T	0.673733	0.28234	T	0.18870863	0.40382	0.21919367	0.46650	0.18870863	0.40381	0.21919367	0.46649	-4.006	0.23893	T	.	.	0.098	0.16363	B	.	.	2.904944	0.38512	20.8	0.99421388646361653	0.63790	0.85909	0.45098	D	AEFDBHCIJ	0.589024	0.58606	D	-0.123864837024399	0.36354	2.100293	0.0206946572483972	0.40677	2.431441	0.999999999217002	0.74766	0.740787	0.97801	0	0.627178	0.54094	0	0.767554	0.98243	0	0.657601	0.63696	0	.	.	5.77	4.61	0.56724	4.153000	0.57895	6.881000	0.56814	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.9209:0.0:0.0791:0.0	10.108	0.41719	861	0.33516	Serpin domain|Serpin 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	.	.	.	.	.	.	.	.	0.02632	2109.33	33	chr7	101133833	.	A	G	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.323;DP=844;ExcessHet=0;FS=7.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.204;SOR=1.234	GT:AD:DP:GQ:PL	0/1:68,86:154:99:2123,0,1740	18	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,28:147:6:.:.:6,0,2853:.	10	0	8	1
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	302.82	110	chr7	105614066	.	G	C	302.82	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.972;DP=2197;ExcessHet=0.7564;FS=135.624;InbreedingCoeff=-0.2184;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.08;SOR=10.318	GT:AD:DP:GQ:PL	0/1:100,22:122:45:45,0,2285	10	0	4	5
chr7	107975797	107975797	C	T	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon10:c.G1081A:p.V361M	Lissencephaly 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.0580050436186	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1258805799	6.157e-06	6.84e-06	6.806e-06	5.5e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	5.396e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.86255	D	.	.	.	.	1	0.81001	D	3.345	0.91022	M	0.03	0.62183	T	-2.85	0.60029	D	0.748	0.78641	0.148	0.85016	D	0.520	0.82086	D	9	0.85956055	0.85169	D	0.058005	0.67166	D	0.502	0.78475	0.729	0.86286	0.734608935481	0.73224	0.6776522523504608	0.67704	0.476022926386	0.46751	0.760132670403	0.75948	T	0.315	0.68646	T	0.23427	0.77121	D	0.0987366	0.76824	D	0.99728786945343	0.91194	D	0.970203	0.89274	D	0.7824531	0.82804	0.79188627	0.87763	0.7824531	0.82806	0.79188627	0.87763	-10.297	0.75671	D	.	.	0.343	0.56085	A	.;.;.	.;.;.	5.327694	0.89412	30	0.99918404275274397	0.98586	0.96770	0.70846	D	AEFBCI	0.918858	0.88853	D	0.938144411086339	0.93498	12.08018	0.884032004090356	0.94837	13.08509	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	5.31	5.31	0.75063	7.818000	0.84740	7.646000	0.63445	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	19.174	0.93579	743	0.52768	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1544.33	35	chr7	107975797	.	C	T	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.132;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=2.44;SOR=0.688	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1558,0,1372	18	0	1	0
chr7	117603561	117603561	C	T	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon17:c.C2687T:p.T896I	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	0	1521	1	0	0	1	0.000328623	.	.	.	544189	not_provided|not_specified|Cystic_fibrosis	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.497	0.0748795083164	.	.	3.301e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs752617117	2.326e-05	2.326e-05	1.498e-05	3.163e-05	0.0002	1.674e-05	1.478e-05	9.791e-05	7.838e-05	0	2.239e-05	0	0	0	0	1.529e-05	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.65419	D	0.001	0.83351	D	0.0	0.02946	B	0.006	0.12133	B	0.018615	0.27444	N	0.441351	0.999997	0.08975	N	2.32	0.66415	M	-2.61	0.89953	D	-1.81	0.42575	N	0.879	0.87699	-0.2589	0.76118	T	0.594	0.85482	D	10	0.9093143	0.90297	D	0.07488	0.72151	D	0.497	0.78163	0.86	0.95774	0.98758593293	0.98745	0.6089609966571364	0.60828	0.00404585083658	0.00359	0.451978564262	0.32213	T	0.685322	0.90800	D	0.0736907	0.61294	D	0.049603	0.73557	D	0.197679758071899	0.20287	T	0.850115	0.53348	D	0.0865046	0.20109	0.071153805	0.15202	0.056815207	0.11226	0.094638556	0.22408	-5.418	0.41821	T	0.29351008086219	0.39029	0.138	0.46436	B	.;.;.;.;.	.;.;.;.;.	2.266433	0.28962	17.97	0.96279806970667192	0.29276	0.18841	0.20424	N	AEFBI	0.191067	0.31828	N	-0.281801305981121	0.29852	1.659121	-0.248043571346651	0.29838	1.675037	0.94740869377206	0.27751	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	1.796000	0.38428	4.911000	0.45953	0.549000	0.26987	0.402000	0.26186	1.000000	0.68203	0.032000	0.13371	0.2903:0.6341:0.0:0.0756	8.015	0.29535	852	0.35056	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1166.33	34	chr7	117603561	.	C	T	1166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.852;DP=703;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.092;SOR=0.578	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1180,0,1228	18	0	1	0
chr7	122702564	122702564	C	T	exonic	RNF148	.	nonsynonymous SNV	RNF148:NM_198085:exon1:c.G187A:p.G63R	.	.	.	.	.	.	.	.	.	.	.	2291334	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.403	0.0280262461798	.	.	8.299e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs755650827	1.848e-05	1.847e-05	1.362e-05	2.338e-05	6.956e-05	1.265e-05	1.085e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	1.799e-05	1.657e-05	6.956e-05	6.577e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.81	0.81869	M	2.55	0.13795	T	-6.77	0.92782	D	0.516	0.54671	-1.0476	0.15073	T	0.098	0.36600	T	9	0.63582945	0.68776	D	0.028026	0.50763	D	0.403	0.71636	0.751	0.88155	0.352476196916	0.34857	0.6629722194442985	0.66234	0.0169261038174	0.01637	0.7113083601	0.68782	T	0.443018	0.78697	T	0.0473803	0.58004	T	-0.169718	0.57469	T	0.982161402702332	0.74331	D	0.911409	0.68582	D	0.72261155	0.79307	0.6969798	0.82156	0.72261155	0.79308	0.6969798	0.82157	-10.816	0.78639	D	.	.	0.907	0.83245	P	.	.	5.235062	0.87878	29.4	0.99921554005855817	0.98787	0.98385	0.82238	D	AEFI	.	.	.	0.718180918959619	0.80823	7.380743	0.681653057370455	0.80986	7.422603	0.810181355103911	0.24341	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.4	4.46	0.53567	5.026000	0.63880	4.850000	0.45366	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.8588:0.1412:0.0	15.214	0.72936	701	0.57775	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2290.33	35	chr7	122702564	.	C	T	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=820;ExcessHet=0;FS=5.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.551;SOR=0.429	GT:AD:DP:GQ:PL	0/1:108,84:192:99:2304,0,2687	18	0	1	0
chr7	140176891	140176891	G	C	exonic	KDM7A	.	nonsynonymous SNV	KDM7A:NM_030647:exon1:c.C47G:p.A16G	.	10	1506	5	1	0	7	0.00231865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00501122642021	.	0.000199681	0.0017	0	0.0085	0	0	0.0024	0	0.0019	0.0002587	40	154602	rs558379371	0.0004	0.0004	0.0004	0.0004	0.0020	0.0003	0.0003	0.0010	0.0007	4.948e-05	0.0003	0.0148	0	0	0.0020	0.0001	0.0015	0.0009	0.0006	0.0006	0.0005	0.0008	0.0012	0.0005	0.0005	0.0005	0.0004	4.857e-05	0	0.0009	0.0162	0	0	0.0034	0.0002	0.0005	0.0012	0.331	0.13088	T	0.0	0.92824	D	0.198	0.29589	B	0.016	0.17743	B	.	.	.	.	0.990245	0.24196	N	0.895	0.22405	L	2.67	0.12473	T	-0.14	0.09135	N	0.166	0.17553	-1.0096	0.27043	T	0.019	0.07893	T	9	0.0044174194	0.00090	T	0.005011	0.12660	T	0.008	0.00669	.	.	0.117191471859	0.11215	0.15201814647770126	0.15123	0.893785170979	0.70334	0.858622908592	0.90907	D	0.011718	0.10413	T	-0.565026	0.00237	T	-0.624931	0.10803	T	0.021094505726029	0.00811	T	0.326967	0.06756	T	0.066502005	0.14315	0.14532992	0.34470	0.066502005	0.14315	0.14532992	0.34469	-5.721	0.43880	T	.	.	0.130	0.27762	B	.	.	2.610327	0.33905	19.48	0.91895283157090735	0.21215	0.29616	0.23868	N	AEFGBHCIJ	0.070627	0.14027	N	-0.537484552455157	0.20878	1.103891	-0.446315217120843	0.23653	1.29105	0.999999515070816	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	1.89	1.89	0.24700	0.012000	0.13184	.	.	0.292000	0.18798	0.010000	0.18352	.	.	0.986000	0.61781	0.1826:0.0:0.8174:0.0	5.455	0.15884	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002392	0.000000	0.005515	0.000000	0.000000	0.009615	0.000000	0.000000	0.02632	728.33	33	chr7	140176891	.	G	C	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.318;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.122;SOR=0.825	GT:AD:DP:GQ:PL	0/1:26,31:57:99:742,0,601	18	0	1	0
chr7	140351274	140351274	G	A	exonic	SLC37A3	.	nonsynonymous SNV	SLC37A3:NM_001363375:exon7:c.C638T:p.P213L,SLC37A3:NM_001287498:exon9:c.C881T:p.P294L,SLC37A3:NM_001363373:exon9:c.C881T:p.P294L,SLC37A3:NM_001363374:exon9:c.C881T:p.P294L,SLC37A3:NM_001363378:exon9:c.C881T:p.P294L,SLC37A3:NM_032295:exon9:c.C881T:p.P294L,SLC37A3:NM_207113:exon9:c.C881T:p.P294L	.	439	1082	1	0	0	1	0.000461894	0.0012	0.04	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0125115355257	.	0.00179712	0.0012	0	0	0	0	0.0001	0.0011	0.0083	0.0010349	160	154602	rs558974013	0.0006	0.0006	0.0004	0.0009	0.0081	0.0006	0.0006	0.0076	0.0074	2.988e-05	4.476e-05	0	2.519e-05	0.0001	0.0002	0.0001	0.0007	0.0081	0.0004	0.0004	0.0003	0.0005	0.0083	0.0003	0.0003	0.0063	0.0056	0.0002	0	6.543e-05	0	0	9.418e-05	0	0.0001	0	0.0083	0.254	0.16903	T	0.534	0.18789	T	0.009	0.15093	B	0.012	0.16012	B	0.000296	0.46274	N	0.232813	0.999964	0.81001	D	0.255	0.09829	N	0.61	0.53516	T	-2.88	0.60507	D	0.143	0.14338	-1.0711	0.09173	T	0.100	0.37188	T	10	0.0082555115	0.00187	T	0.012512	0.31146	T	0.081	0.23632	.	.	0.348983352498	0.34513	0.482584543892184	0.48178	0.282826410038	0.30739	0.487831145525	0.37138	T	0.337988	0.70730	T	-0.434905	0.01386	T	-0.391656	0.34357	T	0.0806637893090386	0.10072	T	0.918208	0.70605	D	0.06353982	0.13391	0.09927788	0.23698	0.06353982	0.13391	0.09927788	0.23697	-10.005	0.73942	D	.	.	0.131	0.28203	B	.;.;.	.;.;.	2.369855	0.30405	18.43	0.88241091164661223	0.17824	0.79540	0.39434	D	AEFBI	0.265695	0.38277	N	0.30429193389789	0.56369	3.801464	0.278446557159098	0.54283	3.59376	0.141609603042094	0.17283	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	2.36	0.28258	1.900000	0.39460	1.395000	0.26148	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.5043:0.0:0.4957:0.0	4.944	0.13332	803	0.44167	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	774.33	84	chr7	140351274	.	G	A	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=1082;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.98;SOR=0.374	GT:AD:DP:GQ:PL	0/1:32,27:59:99:788,0,816	18	0	1	0
chr7	140674618	140674618	A	T	exonic	ADCK2	.	nonsynonymous SNV	ADCK2:NM_052853:exon2:c.A941T:p.H314L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.741	0.147797906709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.998	0.77913	D	0.964	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.9	0.96120	H	0.42	0.56937	T	-9.73	0.98623	D	0.877	0.87590	0.157	0.85181	D	0.458	0.78912	T	10	0.91109407	0.90474	D	0.147798	0.82979	D	0.741	0.91026	0.649	0.78648	0.79846976957	0.79659	0.8680778552594322	0.86772	1.54178038187	0.87722	0.602188229561	0.53213	T	0.264092	0.63583	T	0.364704	0.87610	D	0.286095	0.87449	D	0.999937415122986	0.99782	D	0.871313	0.58729	D	0.9791987	0.99048	0.95211464	0.98525	0.9791987	0.99048	0.95211464	0.98526	-15.372	0.96663	D	.	.	0.895	0.82408	P	.;.	.;.	5.469362	0.91256	32	0.97593868038957277	0.34808	0.96435	0.69125	D	AEFDGBHCI	0.926996	0.90898	D	0.907748664351326	0.92133	11.25197	0.816332653614543	0.90905	10.62457	0.999999999999919	0.74766	0.695654	0.57023	0	0.516746	0.08562	0	0.723109	0.80598	0	0.677038	0.66255	0	.	.	5.47	5.47	0.80345	8.825000	0.91654	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	1.0:0.0:0.0:0.0	15.836	0.78578	745	0.52414	UbiB domain;UbiB domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	865.33	34	chr7	140674618	.	A	T	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.52;DP=665;ExcessHet=0;FS=4.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.828;SOR=0.313	GT:AD:DP:GQ:PL	0/1:20,32:52:99:879,0,529	18	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2076.13	76	chr7	143478290	.	A	G	2076.13	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-3.068;DP=1751;ExcessHet=5.3738;FS=194.204;InbreedingCoeff=-0.3257;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.27;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,21:132:78:.:.:78,0,2899:.	9	0	9	1
chr7	144232444	144232444	T	C	exonic	OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.A400G:p.I134V	.	593	854	43	32	0	107	0.0589532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0101837	0.0220	0.0017	0.0033	0	0	0.0064	0.0053	0.1307	0.0064165	992	154602	rs201592478	0.0073	0.0068	0.0043	0.0098	0.0496	0.0071	0.0070	0.0481	0.0475	0.0005	0.0016	0.0051	2.938e-05	0.0002	0.0224	0.0019	0.0044	0.0496	0.0015	0.0030	0.0013	0.0018	0.0260	0.0012	0.0011	0.0191	0.0168	0.0002	0	0.0017	0.0019	0	0.0003	0	0.0011	0.0013	0.0260	0.101	0.30375	T	0.135	0.34124	T	.	.	.	.	.	.	0.126889	0.18788	U	0.280767	0.999999	0.08975	N	.	.	.	2.13	0.19588	T	-0.77	0.21429	N	0.101	0.08366	-1.0512	0.14064	T	0.033	0.14377	T	9	0.0027412474	0.00043	T	.	.	.	0.028	0.06331	.	.	0.082315109003	0.07666	0.05182640685645484	0.05124	.	.	0.264654278755	0.05458	T	.	.	.	-0.630024	0.00096	T	-0.638286	0.09794	T	0.00264137028716505	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.493190	0.19202	14.14	0.60843909299514987	0.06562	0.03926	0.09316	N	AEFGI	.	.	.	-0.746076387239159	0.14739	0.7368337	-0.795963178384785	0.14594	0.7633378	1.26556962635255E-5	0.02871	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.77	2.77	0.31614	0.379000	0.20315	-0.095000	0.12011	0.450000	0.21304	0.002000	0.15269	0.000000	0.08366	0.748000	0.35716	0.0:0.0:0.2663:0.7337	6.061	0.19064	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.030907	0.013514	0.016287	0.033784	0.000000	0.030612	0.041353	0.036842	0.03571	768.58	33	chr7	144232444	.	T	C	768.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.308;DP=525;ExcessHet=0;FS=0;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.036;MQ=33.41;MQRankSum=-0.365;QD=10.39;ReadPosRankSum=0.767;SOR=0.587	GT:AD:DP:GQ:PL	0/1:41,33:74:99:780,0,1078	13	0	1	5
chr7	152205112	152205112	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon25:c.G3955C:p.D1319H	.	448	1056	18	0	0	18	0.0084507	.	.	.	138486	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.501	.	0.0050	0.00239617	0.0085	0.0020	0.0026	0	0.0065	0.0106	0.0069	0.0128	0.0057244	885	154602	rs138119145	0.0067	0.0068	0.0066	0.0069	0.0118	0.0066	0.0066	0.0100	0.0098	0.0009	0.0029	0.0016	2.53e-05	0.0068	0.0118	0.0072	0.0053	0.0106	0.0053	0.0053	0.0053	0.0054	0.0079	0.0050	0.0049	0.0073	0.0071	0.0015	0	0.0058	0.0023	0	0.0069	0.0102	0.0079	0.0038	0.0067	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.879	0.62418	P	0.009870	0.30165	N	0.147317	0.999994	0.58761	D	2.485	0.72352	M	-1.88	0.84557	D	-4.04	0.74427	D	0.453	0.49055	0.439	0.89668	D	0.668	0.88490	D	10	0.009700209	0.00218	T	.	.	.	0.501	0.78413	.	.	0.819569700567	0.81786	0.5195825074040655	0.51881	2.46540379897	0.97448	0.448005527258	0.31672	T	0.387487	0.74839	T	-0.265729	0.12238	T	-0.145083	0.59677	T	0.0124907214302725	0.00206	T	0.910209	0.68156	D	0.3838508	0.59593	0.48335987	0.70089	0.43801832	0.63275	0.49340585	0.70699	-6.57	0.50823	T	0.6025763354653823	0.66969	0.328	0.55082	B	.;.	.;.	4.147716	0.62187	24.4	0.9871961608920109	0.45186	0.99594	0.97801	D	AEFBI	0.666513	0.63495	D	0.794095892349163	0.85734	8.665662	0.79423801030766	0.89390	9.955145	0.999999892431563	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	6.729000	0.74581	7.558000	0.60417	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.860	0.96779	889	0.27310	.;.	.	.	.	.	.	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	0.004028	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.003788	0.02632	1791.33	34	chr7	152205112	.	C	G	1791.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.65;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.96;SOR=0.644	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1805,0,1664	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:266,96:362:99:1487,0,9235	1	0	18	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10774.2	70	chr8	10609944	.	A	G	10774.2	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-5.582;DP=4163;ExcessHet=4.0268;FS=203.216;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.08;SOR=12.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,44:267:99:0|1:10609943_C_T:230,0,7592:10609943	6	0	8	5
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3125	19088.4	307	chr8	10609948	.	C	G	19088.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,46:253:99:.:.:1010,0,6745:.	6	0	10	3
chr8	10612156	10612156	T	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A1942C:p.M648L	Occult macular dystrophy, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.0026840470341	.	.	8.344e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs766967081	3.422e-06	3.42e-06	0	6.879e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	1.0	0.01155	T	.	.	.	.	.	.	0.731680	0.06374	N	1.204010	1	0.08975	N	0.345	0.11182	N	3.92	0.03462	T	-0.12	0.08809	N	0.065	0.03726	-0.9393	0.42727	T	0.004	0.01330	T	10	0.041377723	0.02788	T	0.002684	0.05492	T	0.004	0.00165	0.308	0.27967	0.0138822411134	0.00435	0.06560363828527155	0.06499	.	.	0.230854600668	0.02032	T	0.01904	0.15242	T	-0.487998	0.00667	T	-0.841898	0.01070	T	0.0728848797806049	0.09050	T	0.217578	0.02739	T	0.10288775	0.24315	0.0757315	0.16704	0.10288775	0.24315	0.0757315	0.16703	-0.675	0.00702	T	0.06539307896137322	0.02154	0.147	0.32445	B	.	.	-1.425795	0.00342	0.006	0.34820001437652404	0.02151	0.00526	0.02443	N	AEFDGBI	0.024000	0.01418	N	-1.9788402258027	0.00235	0.01006667	-2.06001601891084	0.00227	0.01002772	0.997076302974995	0.35252	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.56	-9.11	0.00607	-4.365000	0.00281	-4.896000	0.01937	-0.336000	0.05739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.097:0.1499:0.3034:0.4498	3.340	0.06699	791	0.46100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1461.33	87	chr8	10612156	.	T	G	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.418;DP=1440;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.61;SOR=0.714	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1475,0,1397	18	0	1	0
chr8	11322779	11322779	G	C	exonic	MTMR9	.	nonsynonymous SNV	MTMR9:NM_015458:exon10:c.G1641C:p.E547D	.	.	.	.	.	.	.	.	.	.	.	722800	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.216	.	0.0038	0.00299521	0.0011	0.0115	0.0005	0	0	4.515e-05	0	0	0.0009767	151	154602	rs74800008	0.0004	0.0004	0.0005	0.0003	0.0148	0.0004	0.0004	0.0137	0.0133	0.0148	0.0006	0	0	0	0.0005	2.698e-06	0.0009	4.639e-05	0.0036	0.0037	0.0038	0.0035	0.0126	0.0034	0.0033	0.0117	0.0114	0.0126	0	0.0018	0	0	0	0	0	0.0009	0	0.175	0.24090	T	0.33	0.19304	T	0.001	0.07471	B	0.001	0.04355	B	0.433709	0.12716	U	0.573080	0.577425	0.33356	D	1.78	0.46185	L	-3.53	0.95077	D	-0.17	0.09627	N	0.176	0.32037	-0.1844	0.78069	T	0.527	0.82423	D	10	0.005777389	0.00129	T	.	.	.	0.216	0.50959	0.096	0.01287	0.816479649498	0.81475	0.3624301750025814	0.36157	0.00698940445936	0.00615	0.380066901445	0.22266	T	0.041485	0.25873	T	-0.401151	0.02276	T	-0.337326	0.40646	T	0.00711602318390244	0.00081	T	0.535646	0.17968	T	0.034004044	0.03731	0.04131892	0.04667	0.034004044	0.03731	0.04131892	0.04667	-3.33	0.14642	T	.	.	0.068	0.03887	B	.;.	.;.	0.984422	0.13618	10.15	0.98619618626589767	0.43758	0.92402	0.55629	D	AEFBI	0.273958	0.38925	N	-0.722023992068372	0.15404	0.7759862	-0.56582650246931	0.20386	1.098135	0.976962556743203	0.29775	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	2.75	0.31439	0.497000	0.22222	.	.	-0.153000	0.12021	1.000000	0.71638	0.995000	0.32472	0.279000	0.23992	0.142:0.1262:0.7319:0.0	8.460	0.32082	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	800.33	35	chr8	11322779	.	G	C	800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.357;DP=677;ExcessHet=0;FS=8.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=1.75;SOR=0.16	GT:AD:DP:GQ:PL	0/1:23,30:53:99:814,0,701	18	0	1	0
chr8	12138694	12138694	A	G	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.T67C:p.S23P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.000776767210144	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201725196	0.0008	0.0029	0.0006	0.0009	0.0082	0.0007	0.0007	0.0073	0.0070	0.0082	0.0006	0.0001	0.0038	0.0001	0	0.0002	0.0006	0.0055	0.0016	0.0085	0.0018	0.0014	0.0053	0.0014	0.0013	0.0046	0.0044	0.0053	0	0.0007	0	0.0015	0.0003	0	0.0001	0.0005	0.0026	0.306	0.14207	T	0.229	0.25210	T	0.997	0.70673	D	0.791	0.57754	P	0.160509	0.03035	U	2.632720	1	0.08975	N	0.805	0.20218	L	2.39	0.15724	T	1.05	0.01314	N	0.07	0.04307	-1.0467	0.15332	T	0.059	0.24686	T	8	0.12606704	0.23963	T	7.77E-4	0.00588	T	0.082	0.23913	0.327	0.31034	0.27855597813	0.27464	0.06263905129911394	0.06203	0.602877694266	0.55285	0.539203643799	0.44333	T	0.004935	0.04354	T	-0.349127	0.04782	T	-0.739273	0.03921	T	0.146081611514091	0.16787	T	0.443356	0.12326	T	0.13776411	0.31886	0.14523719	0.34453	0.13776411	0.31886	0.14523719	0.34452	-3.726	0.19703	T	.	.	0.073	0.04558	B	.	.	1.164950	0.15540	11.93	0.95834577561320178	0.27947	0.01709	0.05426	N	AEFBI	0.047177	0.07915	N	-0.676210484786053	0.16700	0.8531941	-0.960292720682348	0.10685	0.539733	2.04560337295708E-6	0.01202	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.36	-0.721	0.10625	-0.182000	0.09720	-2.284000	0.03952	0.346000	0.19847	0.001000	0.13787	0.000000	0.08366	0.024000	0.12247	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	106.4	58	chr8	12138694	.	A	G	106.4	.	AC=2;AF=0.063;AN=32;DP=2284;ExcessHet=0;FS=0;InbreedingCoeff=0.9674;MLEAC=1;MLEAF=0.031;MQ=29.06;QD=26.6;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:129,12,0	15	1	0	3
chr8	17754037	17754037	T	C	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.A1771G:p.T591A,MTUS1:NM_001001925:exon2:c.A1771G:p.T591A,MTUS1:NM_001363057:exon2:c.A1771G:p.T591A,MTUS1:NM_001363059:exon2:c.A1771G:p.T591A,MTUS1:NM_001363060:exon2:c.A1771G:p.T591A,MTUS1:NM_001363061:exon2:c.A1771G:p.T591A,MTUS1:NM_001363062:exon2:c.A1771G:p.T591A,MTUS1:NM_001363058:exon3:c.A1771G:p.T591A	.	424	1076	21	1	0	23	0.0105747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	8.3e-05	0.00379393	0.0024	0.0003	8.639e-05	0.0001	0	0.0003	0.0022	0.0157	0.0020763	321	154602	rs200539556	0.0012	0.0012	0.0007	0.0017	0.0173	0.0011	0.0011	0.0166	0.0163	2.987e-05	0.0002	0	5.038e-05	0	0.0059	9.263e-05	0.0011	0.0173	0.0006	0.0006	0.0003	0.0008	0.0131	0.0005	0.0004	0.0105	0.0095	2.406e-05	0	0	0	0	0	0	0.0003	0.0005	0.0131	0.005	0.63226	D	0.093	0.39799	T	0.096	0.36886	B	0.038	0.37000	B	0.016904	0.27856	N	0.297831	0.824439	0.29019	N	1.32	0.33002	L	3.14	0.35590	T	-1.76	0.41618	N	0.195	0.27910	-1.0381	0.17893	T	0.059	0.24539	T	10	0.0043945312	0.00089	T	.	.	.	0.029	0.06676	.	.	0.398133443147	0.39430	0.09200691151694472	0.09133	.	.	0.293597280979	0.09449	T	0.016183	0.13427	T	-0.514338	0.00474	T	-0.497962	0.22560	T	0.0306784420219683	0.02096	T	0.620138	0.25952	T	0.14582437	0.33409	0.08430943	0.19385	0.16457364	0.36672	0.102871716	0.24667	-3.602	0.17973	T	.	.	0.090	0.18414	B	.;.;.	.;.;.	1.847264	0.23471	16.03	0.98489533472077961	0.42085	0.46262	0.27721	N	ALL	0.143488	0.26620	N	-0.217943700044761	0.32396	1.826658	-0.0923455780492205	0.35704	2.06891	0.999999916866603	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.95	3.74	0.42108	-0.137000	0.10369	1.074000	0.23831	0.665000	0.62972	0.914000	0.31788	1.000000	0.68203	1.000000	0.97212	0.0:0.1854:0.1614:0.6532	4.669	0.12065	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1846.33	33	chr8	17754037	.	T	C	1846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=806;ExcessHet=0;FS=1.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.068;SOR=0.543	GT:AD:DP:GQ:PL	0/1:96,68:164:99:1860,0,2705	18	0	1	0
chr8	23137883	23137883	G	A	exonic	TNFRSF10D	.	nonsynonymous SNV	TNFRSF10D:NM_003840:exon9:c.C1148T:p.T383M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.026288925373	.	0.00119808	0.0010	0	8.642e-05	0	0	0	0.0011	0.0077	0.0008409	130	154602	rs373138944	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0064	0.0062	2.989e-05	2.242e-05	0	0	0	0.0002	4.497e-06	0.0006	0.0068	0.0002	0.0002	5.138e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0066	0.004	0.65419	D	0.247	0.23914	T	.	.	.	.	.	.	0.008077	0.01192	U	11.922200	1	0.08975	N	.	.	.	-1.53	0.81559	D	-0.39	0.13611	N	0.056	0.02759	-0.8631	0.51039	T	0.221	0.58383	T	10	0.004205197	0.00084	T	0.026289	0.49208	D	0.157	0.40909	0.25	0.18757	0.117506650769	0.11410	0.04727911487942922	0.04670	0.191774986612	0.21510	0.250372827053	0.03807	T	.	.	.	-0.563525	0.00242	T	-0.578516	0.14677	T	0.0163697783296855	0.00405	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23883	B	.	.	0.582876	0.09512	6.290	0.29221791579648049	0.01539	0.00029	0.00276	N	AEFDBI	0.011577	0.00105	N	-1.61109353529118	0.01210	0.05261683	-1.67630173564412	0.01246	0.05613728	0.873001691943698	0.25457	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.1	-2.55	0.05922	-0.426000	0.07076	-1.896000	0.04535	-1.840000	0.00582	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6135:0.0:0.1686:0.2179	2.880	0.05298	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	758.33	33	chr8	23137883	.	G	A	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.246;DP=679;ExcessHet=0;FS=3.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.31;SOR=0.27	GT:AD:DP:GQ:PL	0/1:27,30:57:99:772,0,681	18	0	1	0
chr8	30681011	30681011	C	T	exonic	GSR	.	nonsynonymous SNV	GSR:NM_001195104:exon10:c.G1066A:p.E356K,GSR:NM_001195102:exon11:c.G1225A:p.E409K,GSR:NM_001195103:exon11:c.G1153A:p.E385K,GSR:NM_000637:exon12:c.G1312A:p.E438K	Hemolytic anemia due to glutathione reductase deficiency (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0358469335471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.039	0.48186	D	0.077	0.42436	T	0.061	0.23190	B	0.04	0.23831	B	0.001207	0.39820	N	0.287114	0.999977	0.53665	D	2.355	0.67662	M	-0.34	0.72889	T	-3.06	0.64939	D	0.346	0.43223	-0.5129	0.68180	T	0.317	0.68629	T	10	0.34616682	0.51577	T	0.035847	0.56612	D	0.267	0.58126	0.569	0.69167	0.864308929446	0.86298	0.7738270225318636	0.77332	0.337717379033	0.35759	0.489353060722	0.37348	T	0.672781	0.90306	D	0.0275011	0.55389	T	-0.198273	0.54810	T	0.92883312702179	0.59253	D	0.961204	0.85511	D	0.33999324	0.56279	0.23468839	0.48692	0.33999324	0.56279	0.23468839	0.48691	-8.036	0.64290	D	.	.	0.108	0.20391	B	.;.;.;.	.;.;.;.	3.118213	0.42087	21.5	0.9980270108166025	0.88728	0.95664	0.65634	D	AEFBI	0.456556	0.50837	N	-2.09880683979119e-05	0.41855	2.511031	0.110937214591921	0.45107	2.779823	0.999999970555951	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	3.545000	0.53401	4.730000	0.44549	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:1.0:0.0:0.0	16.341	0.82913	464	0.78488	Pyridine nucleotide-disulphide oxidoreductase, dimerisation 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	.	.	.	.	.	.	.	.	0.02632	1129.33	34	chr8	30681011	.	C	T	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.14;DP=736;ExcessHet=0;FS=1.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.243;SOR=0.961	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1143,0,1258	18	0	1	0
chr8	38995472	38995472	G	A	exonic	TM2D2	.	nonsynonymous SNV	TM2D2:NM_001024380:exon2:c.C32T:p.T11M,TM2D2:NM_001024381:exon2:c.C32T:p.T11M,TM2D2:NM_031940:exon2:c.C32T:p.T11M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.003854459859	.	0.000199681	8.47e-06	9.714e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs201354496	4.853e-06	5.472e-06	2.759e-06	6.968e-06	9.479e-05	2.02e-06	1.3e-06	2.511e-05	1.296e-05	9.479e-05	2.471e-05	0	0	0	0	0	3.36e-05	1.198e-05	6.566e-05	6.563e-05	3.854e-05	9.402e-05	0.0003	3.514e-05	2.615e-05	8.873e-05	5.284e-05	0.0001	0	0.0003	0	0	0	0	0	0.0005	0	0.023	0.91255	D	0.113	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.38	0.89534	N	0.138	0.13626	-1.0348	0.18920	T	0.039	0.16935	T	8	0.040415138	0.02609	T	0.003854	0.09024	T	0.017	0.02790	.	.	0.0884992946249	0.08302	.	.	.	.	.	.	.	.	.	.	-0.327424	0.06309	T	-0.520925	0.20202	T	0.0359617417711971	0.02974	T	0.408959	0.10549	T	.	.	.	.	.	.	.	.	-3.721	0.19628	T	.	.	0.148	0.36495	B	.;.;.;.;.	.;.;.;.;.	0.894887	0.12684	9.208	0.99461381214395961	0.65840	0.00297	0.01586	N	AEFDGBHCI	0.030919	0.03204	N	-1.35444590315098	0.03079	0.1369834	-1.34226463905379	0.03897	0.1827665	0.999997900199288	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.694767	0.63188	0	0.657601	0.63696	0	.	.	5.64	-1.02	0.09618	0.412000	0.20852	-0.111000	0.11829	-1.378000	0.01162	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4801:0.1568:0.3631:0.0	5.193	0.14543	650	0.62973	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2257.33	35	chr8	38995472	.	G	A	2257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=766;ExcessHet=0;FS=4.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.311;SOR=1.092	GT:AD:DP:GQ:PL	0/1:62,80:142:99:2271,0,1433	18	0	1	0
chr8	39186980	39186980	A	G	exonic	ADAM32	.	nonsynonymous SNV	ADAM32:NM_145004:exon11:c.A987G:p.I329M	.	.	.	.	.	.	.	.	.	.	.	2706780	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0180304301488	8.5e-05	0.000399361	4.978e-05	0.0006	0	0	0	0	0	0	5.17e-05	8	154602	rs201567035	2.259e-05	2.257e-05	2.997e-05	1.514e-05	0.0009	1.611e-05	1.417e-05	0.0006	0.0005	0.0009	2.238e-05	0	0	0	0	0	4.972e-05	0	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.231e-05	0.0004	0.0003	0.0006	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.072	0.43344	T	0.443	0.35940	B	0.525	0.48375	P	0.191228	0.16841	N	0.433856	1	0.81001	D	1.035	0.25616	L	0.06	0.61798	T	-1.65	0.39503	N	0.115	0.10340	-0.9045	0.47504	T	0.143	0.46404	T	10	0.040857702	0.02690	T	0.01803	0.39953	T	0.173	0.43840	.	.	0.299427821978	0.29548	0.48967768701044145	0.48887	0.218217447012	0.24354	0.42160230875	0.28057	T	0.020873	0.16353	T	-0.407954	0.02051	T	-0.469741	0.25544	T	0.100828786125704	0.12448	T	0.607439	0.22904	T	0.28043637	0.51091	0.21621795	0.46241	0.28043637	0.51091	0.21621795	0.46240	-4.54	0.31408	T	.	.	0.142	0.31304	B	.	.	1.713972	0.21823	15.36	0.99562549880394779	0.71892	0.07006	0.13033	N	AEI	0.116683	0.22890	N	-0.536412033506882	0.20912	1.105904	-0.46517353914024	0.23119	1.259187	4.77285388094991E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.47	3.08	0.34576	-0.415000	0.07170	0.001000	0.13291	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.8198:0.0:0.1802:0.0	7.090	0.24458	808	0.43318	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1366.33	33	chr8	39186980	.	A	G	1366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.16;DP=720;ExcessHet=0;FS=0.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.006;SOR=0.839	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1380,0,1086	18	0	1	0
chr8	41684589	41684589	G	A	exonic	ANK1	.	nonsynonymous SNV	ANK1:NM_000037:exon37:c.C4492T:p.R1498W,ANK1:NM_020475:exon37:c.C4492T:p.R1498W,ANK1:NM_020476:exon37:c.C4492T:p.R1498W,ANK1:NM_020477:exon37:c.C4492T:p.R1498W,ANK1:NM_001142446:exon38:c.C4615T:p.R1539W	Spherocytosis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	2849587	not_provided|Hereditary_spherocytosis_type_1	MedGen:C3661900|MONDO:MONDO:0008447,MedGen:C2674218,OMIM:182900,Orphanet:822	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.144	0.0718535680412	7.7e-05	0.000199681	3.3e-05	0.0002	0	0.0001	0	0	0.0011	0	3.88e-05	6	154602	rs373965109	4.243e-05	4.241e-05	4.221e-05	4.264e-05	0.0010	3.378e-05	3.066e-05	0.0007	0.0006	0.0010	4.473e-05	0	5.038e-05	0	0	1.799e-06	0.0004	0	0.0001	0.0001	8.991e-05	0.0001	0.0004	7.571e-05	6.277e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0.0002	0.04	0.42487	D	0.03	0.54159	D	0.007	0.19075	B	0.001	0.16862	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.045	0.56016	M	-0.28	0.67712	T	-2.96	0.62343	D	0.492	0.58713	-0.4433	0.70621	T	0.343	0.70859	T	10	0.18850562	0.34408	T	0.071854	0.71379	D	0.291	0.61040	.	.	0.826217112031	0.82457	0.5805746669206779	0.57986	0.315696915889	0.33844	0.403199195862	0.25514	T	0.311663	0.68354	T	0.0509681	0.58467	T	0.131628	0.78999	D	0.120311401962331	0.14461	T	0.909209	0.67884	D	0.5613294	0.70583	0.26135156	0.51911	0.5613294	0.70584	0.26135156	0.51910	-4.557	0.32297	T	0.34693946109466645	0.44438	0.094	0.14706	B	.;.;.	.;.;.	2.070897	0.26338	17.08	0.99394172379438306	0.62474	0.45920	0.27645	N	AEFGBCI	0.774510	0.70820	D	-0.736430692623101	0.15005	0.7523843	-0.81261870761737	0.14190	0.7401654	0.999914645920274	0.45857	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.635259	0.50027	0	.	.	5.23	-0.257	0.12338	0.361000	0.20003	0.051000	0.14001	0.676000	0.76740	0.081000	0.22364	0.486000	0.25128	0.238000	0.22948	0.0:0.0:0.3759:0.6241	15.143	0.72305	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2039.33	34	chr8	41684589	.	G	A	2039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=769;ExcessHet=0;FS=5.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.759;SOR=1.15	GT:AD:DP:GQ:PL	0/1:76,77:153:99:2053,0,1805	18	0	1	0
chr8	43056536	43056536	G	A	exonic	FNTA	.	nonsynonymous SNV	FNTA:NM_002027:exon1:c.G190A:p.V64I	.	424	1097	1	0	0	1	0.000455581	.	.	.	711543	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0012	0.00638978	0.0044	0.0090	0.0010	0	0	0	0	0.0135	0.0013907	215	154602	rs143321089	0.0007	0.0007	0.0005	0.0009	0.0100	0.0007	0.0007	0.0094	0.0091	0.0051	0.0005	4.278e-05	0	0	0	2.071e-05	0.0009	0.0100	0.0020	0.0020	0.0018	0.0022	0.0110	0.0018	0.0017	0.0086	0.0078	0.0057	0	0.0005	0	0.0002	0	0	2.942e-05	0.0019	0.0110	0.326	0.13306	T	0.409	0.14588	T	0.009	0.15093	B	0.005	0.11217	B	0.012769	0.29061	N	0.348578	0.986371	0.40422	D	1.01	0.25309	L	.	.	.	-0.44	0.14588	N	0.181	0.19593	-1.0482	0.14903	T	0.073	0.29610	T	9	0.00494951	0.00106	T	.	.	.	0.074	0.21613	.	.	0.236619781664	0.23270	0.21473646385118603	0.21389	0.175329978969	0.19739	0.804841518402	0.82700	D	0.065055	0.32592	T	-0.429557	0.01491	T	-0.380411	0.35674	T	0.0478625340700788	0.05119	T	0.761624	0.38671	T	0.24710323	0.47685	0.20496684	0.44645	0.24710323	0.47685	0.20496684	0.44644	-4.0	0.23804	T	.	.	0.101	0.17700	B	.	.	3.310280	0.45477	22.1	0.99326898883490389	0.59622	0.48409	0.28200	N	AEFDGBHCI	0.272570	0.38817	N	-0.231548984104588	0.31845	1.789833	-0.068389692913893	0.36706	2.139543	0.999999999999929	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.38	4.38	0.52019	3.153000	0.50383	9.344000	0.80241	0.590000	0.31872	0.999000	0.42656	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	12.422	0.54859	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	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	0.001609	0.000000	0.001374	0.000000	0.000000	0.000000	0.003356	0.003968	0.02632	605.33	33	chr8	43056536	.	G	A	605.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.147;DP=686;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.703;SOR=0.529	GT:AD:DP:GQ:PL	0/1:25,29:54:99:619,0,569	18	0	1	0
chr8	43122830	43122830	G	A	exonic	POMK	.	nonsynonymous SNV	POMK:NM_001277971:exon4:c.G1006A:p.D336N,POMK:NM_032237:exon5:c.G1006A:p.D336N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, Autosomal recessive	435	1086	1	0	0	1	0.000460193	.	.	.	458519	not_specified|POMK-related_disorder|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_12|Limb-girdle_muscular_dystrophy_due_to_POMK_deficiency|not_provided	MedGen:CN169374|.|MONDO:MONDO:0014101,MedGen:C3808964,OMIM:615249,Orphanet:899|MONDO:MONDO:0014489,MedGen:C4015184,OMIM:616094,Orphanet:445110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.013	.	0.0021	0.00638978	0.0020	0.0072	0.0004	0	0	0	0.0011	0.0096	0.0017852	276	154602	rs113361507	0.0008	0.0008	0.0006	0.0010	0.0093	0.0007	0.0007	0.0088	0.0086	0.0064	0.0007	3.827e-05	0	0	0	1.888e-05	0.0010	0.0093	0.0025	0.0025	0.0024	0.0026	0.0110	0.0023	0.0022	0.0086	0.0078	0.0075	0	0.0007	0	0.0002	0	0	2.941e-05	0.0024	0.0110	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.291944	0.14752	N	0.717385	1	0.08975	N	-1.295	0.00719	N	2.32	0.16640	T	0.92	0.01573	N	0.051	0.02272	-0.9419	0.42314	T	0.008	0.02884	T	9	0.0036479235	0.00067	T	.	.	.	0.013	0.01715	.	.	0.198526703765	0.19489	0.18540545492157906	0.18458	0.0792943746669	0.08922	0.236800760031	0.02510	T	0.002432	0.01826	T	-0.741909	0.00020	T	-0.831655	0.01233	T	0.000383446154512904	0.00003	T	0.689931	0.29934	T	0.019191071	0.00446	0.026103878	0.00682	0.016460376	0.00199	0.027933665	0.00986	-3.462	0.15904	T	0.07469936892524894	0.03261	0.061	0.01161	B	.;.	.;.	0.065661	0.04751	1.377	0.5333893730464363	0.04920	0.00733	0.03071	N	AEFDBI	0.022066	0.01057	N	-1.49613714769281	0.01877	0.08234559	-1.43331240689595	0.02924	0.1354624	0.0017348174753602	0.08828	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.33	-0.121	0.12875	0.966000	0.28929	1.575000	0.27440	-0.851000	0.02709	0.000000	0.06391	0.015000	0.20450	0.090000	0.17789	0.3603:0.4668:0.1729:0.0	5.853	0.17957	467	0.78285	Protein kinase domain;Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1149.33	40	chr8	43122830	.	G	A	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=736;ExcessHet=0;FS=4.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.355;SOR=1.244	GT:AD:DP:GQ:PL	0/1:62,42:104:99:1163,0,1742	18	0	1	0
chr8	51654731	51654731	A	T	exonic	PXDNL	.	nonsynonymous SNV	PXDNL:NM_144651:exon2:c.T194A:p.I65N	.	.	.	.	.	.	.	.	.	.	.	711569	not_provided|PXDNL-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.408	.	0.0029	0.00319489	0.0009	0.0110	0.0003	0	0	1.511e-05	0	0	0.0008797	136	154602	rs115225788	0.0003	0.0003	0.0004	0.0003	0.0118	0.0003	0.0003	0.0108	0.0105	0.0118	0.0005	0	0	0	0.0007	4.498e-06	0.0006	8.117e-05	0.0031	0.0031	0.0033	0.0029	0.0108	0.0028	0.0028	0.0100	0.0097	0.0108	0	0.0008	0	0	0	0	0	0.0028	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.673545	0.30343	N	3.52	0.92970	H	-0.18	0.65747	T	-4.1	0.74900	D	0.729	0.73015	0.083	0.83860	D	0.459	0.78975	T	9	0.024210155	0.00658	T	.	.	.	0.408	0.72022	.	.	0.751293006959	0.74904	0.7671922620667518	0.76668	0.726489316092	0.62513	0.650667309761	0.60080	T	0.212588	0.57368	T	-0.301814	0.08490	T	-0.195924	0.55033	T	0.0491021495188678	0.05341	T	0.89781	0.64256	D	0.6302004	0.74309	0.61382145	0.77526	0.6302004	0.74310	0.61382145	0.77527	-15.901	0.97609	D	.	.	0.891	0.82188	P	.	.	4.004147	0.59023	24.0	0.99433704972514148	0.64374	0.69248	0.34113	D	AEFCIJ	0.334878	0.43350	N	0.739782303848229	0.82237	7.713633	0.604628043038592	0.75277	6.281909	4.31936365956768E-4	0.06970	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	2.198000	0.42339	4.551000	0.43803	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	10.163	0.42038	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1384.33	35	chr8	51654731	.	A	T	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.079;DP=739;ExcessHet=0;FS=7.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.284;SOR=0.896	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1398,0,1258	18	0	1	0
chr8	53881043	53881045	GCC	-	exonic	RGS20	.	nonframeshift deletion	RGS20:NM_003702:exon1:c.28_30del:p.A10del	.	360	1161	1	0	0	1	0.000430478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0114	0.0071885	0.0027	0.0347	0.0035	0	0	2.623e-05	0	9.078e-05	0.000461	12	26028	rs201945532	0.0007	0.0007	0.0009	0.0006	0.0267	0.0007	0.0007	0.0252	0.0246	0.0267	0.0016	0	0	0	0.0017	1.091e-05	0.0018	3.697e-05	0.0063	0.0063	0.0063	0.0064	0.0226	0.0060	0.0059	0.0214	0.0209	0.0226	0	0.0010	0	0	0	0	5.891e-05	0.0028	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1228.29	42	chr8	53881042	.	GGCC	G	1228.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=815;ExcessHet=0;FS=14.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-0.269;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,32:59:99:.:.:1242,0,1016:.	18	0	1	0
chr8	54621385	54621385	A	G	exonic	RP1	.	nonsynonymous SNV	RP1:NM_001375654:exon2:c.A419G:p.H140R,RP1:NM_006269:exon2:c.A419G:p.H140R	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	736711	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00172861104252	0.0008	0.00179712	0.0003	0.0041	0.0003	0	0	0	0	0	0.0003299	51	154602	rs147736171	8.353e-05	8.345e-05	0.0001	5.643e-05	0.0027	7.142e-05	6.69e-05	0.0022	0.0020	0.0027	0.0002	0	0	0	0	3.598e-06	0.0003	2.319e-05	0.0007	0.0007	0.0007	0.0006	0.0023	0.0005	0.0005	0.0019	0.0018	0.0023	0	0.0002	0	0	0	0	1.478e-05	0	0	0.399	0.10517	T	0.407	0.14679	T	0.0	0.02946	B	0.0	0.01387	B	0.001392	0.00778	N	3.066800	1	0.08975	N	0.06	0.08197	N	2.16	0.19166	T	0.44	0.03243	N	0.052	0.02366	-1.0303	0.20357	T	0.015	0.06042	T	10	0.0071212947	0.00162	T	0.001729	0.02908	T	0.006	0.00375	.	.	0.115124310173	0.11017	0.45026884226610303	0.44944	0.0317804330332	0.03293	0.428357303143	0.28985	T	0.044243	0.26755	T	-0.747389	0.00018	T	-0.849713	0.00963	T	0.00708355975208803	0.00081	T	0.468553	0.14445	T	0.027204838	0.01880	0.033108365	0.02151	0.027204838	0.01880	0.033108365	0.02151	-1.203	0.01255	T	0.06783553257658162	0.02417	0.064	0.09578	B	.;.;.	.;.;.	-1.084453	0.00659	0.018	0.31428755457772994	0.01771	0.00162	0.00966	N	AEFDBI	0.015792	0.00319	N	-1.63326871100237	0.01107	0.04808181	-1.66796807866026	0.01286	0.05798738	0.00462361632120524	0.10646	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.49	-4.38	0.03371	-0.805000	0.04636	-1.868000	0.04583	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0837:0.0925:0.731:0.0928	5.071	0.13943	818	0.41518	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1074.33	34	chr8	54621385	.	A	G	1074.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.342;DP=700;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-1.887;SOR=0.567	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1088,0,946	18	0	1	0
chr8	56441429	56441429	C	T	exonic	PENK	.	nonsynonymous SNV	PENK:NM_001135690:exon4:c.G647A:p.R216K	.	.	.	.	.	.	.	.	.	.	.	723154	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.371	0.0287963615397	0.0012	0.000798722	0.0004	0.0042	0.0006	0	0	0	0	0	0.0003558	55	154602	rs142176507	0.0001	0.0001	0.0002	0.0001	0.0051	0.0001	0.0001	0.0045	0.0043	0.0051	0.0002	0	0	1.879e-05	0	0	0.0003	1.159e-05	0.0014	0.0014	0.0013	0.0014	0.0047	0.0012	0.0012	0.0042	0.0040	0.0047	0	0.0008	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.885	0.83555	M	2.18	0.18875	T	-2.57	0.55501	D	0.828	0.83678	-0.8588	0.51348	T	0.172	0.51325	T	10	0.03092894	0.01222	T	0.028796	0.51417	D	0.371	0.69016	.	.	0.59966951432	0.59648	0.528909890695719	0.52814	0.261302931808	0.28679	0.858073115349	0.90826	D	0.689616	0.90963	D	-0.0849641	0.38906	T	0.105445	0.77269	D	0.0998446911252653	0.12340	T	0.813719	0.46699	T	0.72176164	0.79259	0.6448282	0.79237	0.72176164	0.79261	0.6448282	0.79238	-3.85	0.21553	T	.	.	0.822	0.78309	P	.;.	.;.	4.722672	0.75979	26.4	0.99784729843998021	0.87131	0.98286	0.81270	D	AEFDI	0.897457	0.83966	D	0.895284293181307	0.91527	10.92874	0.873379861699015	0.94306	12.658	0.999999998243328	0.74766	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	7.234000	0.77597	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:1.0:0.0:0.0	19.287	0.94064	747	0.52260	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1264.33	37	chr8	56441429	.	C	T	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.596;DP=772;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.1;SOR=0.9	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1278,0,1701	18	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,20:64:99:0|1:66493691_G_C:190,0,751:66493691	8	0	10	1
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1786	165.75	17	chr8	67299229	.	C	T	165.75	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-0.465;DP=388;ExcessHet=1.3;FS=182.949;InbreedingCoeff=-0.2845;MLEAC=6;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.447;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,9:30:29:.:.:29,0,340:.	9	0	5	5
chr8	76855923	76855923	G	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G9002T:p.G3001V	.	0	1515	6	1	0	8	0.00263331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0189141440889	.	.	0.0002	0	0	0	0	0.0002	0	0.0002	0.0001358	21	154602	rs775483953	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	8.945e-05	0	0	0	0.0016	0.0001	0.0003	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	8.163e-05	6.72e-05	0.0001	8.276e-05	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0004	0.133	0.26965	T	0.02	0.58613	D	.	.	.	.	.	.	0.000545	0.43413	U	0.000000	0.999999	0.58761	D	.	.	.	0.76	0.49919	T	-3.4	0.67014	D	0.812	0.83885	-0.8487	0.52058	T	0.188	0.53856	T	10	0.57749903	0.65662	D	0.018914	0.41124	T	0.116	0.32463	.	.	0.151262610727	0.14761	0.3314716088228594	0.33060	0.745215368808	0.63480	0.629379987717	0.57057	T	.	.	.	-0.252592	0.13783	T	-0.304415	0.44256	T	0.0403428257376543	0.03752	T	0.909009	0.75832	D	.	.	.	.	.	.	.	.	-10.121	0.74633	D	.	.	.	.	.	.;.	.;.	4.144916	0.62127	24.4	0.98160377569070678	0.38764	0.90834	0.52348	D	AEFGBCI	0.600726	0.59325	D	0.138983390260452	0.48291	3.043211	0.224317805746591	0.51200	3.304621	0.999999749683575	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.17	5.17	0.70848	5.250000	0.65252	11.936000	0.99985	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.345000	0.25546	0.0:0.1405:0.8595:0.0	15.254	0.73267	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2159.33	43	chr8	76855923	.	G	T	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.515;DP=1017;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.071;SOR=0.749	GT:AD:DP:GQ:PL	0/1:93,81:174:99:2173,0,2679	18	0	1	0
chr8	98089316	98089316	C	T	exonic	ERICH5	.	nonsynonymous SNV	ERICH5:NM_173549:exon2:c.C299T:p.S100F	.	416	1084	21	1	0	23	0.0104975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0049	0.00319489	0.0043	0.0014	0.0028	0	0.0008	0.0065	0.0044	0.0019	0.0046118	713	154602	rs34144950	0.0061	0.0061	0.0061	0.0062	0.0106	0.0060	0.0060	0.0085	0.0077	0.0008	0.0032	3.826e-05	0	0.0011	0.0106	0.0073	0.0062	0.0017	0.0044	0.0044	0.0049	0.0039	0.0074	0.0042	0.0040	0.0069	0.0067	0.0009	0	0.0067	0.0003	0	0.0008	0.0068	0.0074	0.0052	0.0010	0.042	0.41637	D	0.036	0.52060	D	0.899	0.49514	P	0.667	0.53020	P	0.618651	0.10799	N	0.800473	1	0.08975	N	1.525	0.38595	L	0.79	0.49068	T	-3.78	0.71519	D	0.232	0.26111	-1.0065	0.28004	T	0.115	0.40875	T	10	0.008595943	0.00195	T	.	.	.	0.060	0.17295	.	.	0.332902724076	0.32905	0.035470728247831686	0.03494	0.159704334051	0.18023	.	.	.	0.048359	0.27994	T	-0.538225	0.00343	T	-0.536505	0.18641	T	0.0409072582646112	0.03854	T	0.555844	0.19272	T	0.110806584	0.26188	0.12128935	0.29265	0.110806584	0.26188	0.12128935	0.29265	-5.607	0.42856	T	.	.	0.142	0.31125	B	.	.	2.439666	0.31399	18.73	0.99440510548239747	0.64720	0.10520	0.16004	N	AEFDBI	0.106676	0.21277	N	-0.432944068937169	0.24322	1.312446	-0.593839667217455	0.19652	1.055397	0.014842906693891	0.12645	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.71	2.86	0.32427	1.611000	0.36490	1.097000	0.24034	-0.224000	0.07868	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.1849:0.6369:0.1782:0.0	7.861	0.28672	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.015152	0.005435	0.000000	0.000000	0.008621	0.006098	0.007576	0.02632	1849.33	39	chr8	98089316	.	C	T	1849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.002;DP=760;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.318;SOR=0.781	GT:AD:DP:GQ:PL	0/1:62,69:131:99:1863,0,1692	18	0	1	0
chr8	109119141	109119141	C	T	exonic	TRHR	.	nonsynonymous SNV	TRHR:NM_003301:exon3:c.C883T:p.P295S	Thyrotropin-releasing hormone resistance, generalized (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0263245508515	.	.	1.648e-05	0	0	0	0	0	0.0011	6.056e-05	1.29e-05	2	154602	rs756257265	4.791e-06	4.788e-06	1.362e-06	8.255e-06	8.117e-05	1.99e-06	1.28e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	0	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.133	0.34359	T	0.976	0.58310	D	0.812	0.58704	P	0.000004	0.62929	D	0.142348	0.999989	0.54805	D	.	.	.	0.6	0.53731	T	-6.12	0.90060	D	0.433	0.47208	-0.7525	0.57805	T	0.284	0.65635	T	10	0.4834968	0.60570	T	0.026325	0.49245	D	0.242	0.54781	0.437	0.48993	0.79559090563	0.79369	0.4555657329620699	0.45474	0.645929378351	0.58025	0.588007450104	0.51213	T	0.76859	0.93788	D	-0.215567	0.18602	T	-0.344769	0.39804	T	0.828083515167236	0.48382	D	0.751425	0.37327	T	0.24587022	0.47550	0.4747317	0.69559	0.24587022	0.47550	0.4747317	0.69560	-9.115	0.68434	D	0.25354120931562746	0.34295	0.194	0.41495	B	.;.	.;.	4.716406	0.75825	26.4	0.99902934311961711	0.97426	0.91005	0.52675	D	AEFBI	0.375860	0.46023	N	0.570396420313183	0.71333	5.634883	0.598563425504914	0.74836	6.205406	0.706456288529567	0.22765	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	3.068000	0.49716	7.719000	0.67224	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	19.641	0.95751	640	0.64132	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2784.33	34	chr8	109119141	.	C	T	2784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.676;SOR=0.69	GT:AD:DP:GQ:PL	0/1:87,105:192:99:2798,0,2316	18	0	1	0
chr8	109618856	109618856	C	G	exonic	SYBU	.	nonsynonymous SNV	SYBU:NM_001099746:exon2:c.G56C:p.G19A,SYBU:NM_001099749:exon2:c.G56C:p.G19A,SYBU:NM_001099755:exon2:c.G56C:p.G19A,SYBU:NM_001099756:exon2:c.G404C:p.G135A,SYBU:NM_001099753:exon3:c.G410C:p.G137A,SYBU:NM_001099754:exon3:c.G413C:p.G138A,SYBU:NM_001099743:exon4:c.G410C:p.G137A,SYBU:NM_001099744:exon4:c.G413C:p.G138A,SYBU:NM_001099745:exon4:c.G413C:p.G138A,SYBU:NM_001099747:exon4:c.G410C:p.G137A,SYBU:NM_001099748:exon4:c.G413C:p.G138A,SYBU:NM_001099751:exon4:c.G410C:p.G137A,SYBU:NM_001099752:exon4:c.G413C:p.G138A,SYBU:NM_001099750:exon5:c.G413C:p.G138A,SYBU:NM_017786:exon5:c.G410C:p.G137A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	0.00279553	0.0019	0	0.0002	0	0	2.999e-05	0.0044	0.0133	0.0016235	251	154602	rs372309010	0.0008	0.0008	0.0005	0.0011	0.0123	0.0008	0.0007	0.0117	0.0115	5.974e-05	4.472e-05	0	0	0	0.0002	4.227e-05	0.0009	0.0123	0.0005	0.0005	0.0003	0.0007	0.0139	0.0004	0.0004	0.0112	0.0102	2.406e-05	0	0	0	0	0	0.0136	2.94e-05	0	0.0139	0.491	0.91255	T	0.544	0.11335	T	0.587	0.38961	P	0.225	0.38015	B	0.011751	0.29415	N	0.412537	0.934888	0.27361	N	1.79	0.46772	L	.	.	.	-0.13	0.48523	N	0.281	0.33360	-1.0418	0.16770	T	0.083	0.32527	T	9	0.0060492456	0.00136	T	.	.	.	0.061	0.17616	0.124	0.03018	0.173771789658	0.16945	0.09334394125298731	0.09266	0.365713433289	0.38163	0.395602285862	0.24456	T	0.011007	0.12726	T	-0.386441	0.02835	T	-0.316196	0.42991	T	0.0253457295364231	0.01318	T	0.848015	0.66592	T	0.09417192	0.22135	0.06448538	0.12930	0.09417192	0.22134	0.06448538	0.12929	-3.437	0.17025	T	.	.	0.081	0.12276	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.569652	0.33295	19.30	0.82480213011022641	0.14214	0.87345	0.46856	D	AEFGBI	0.482425	0.52330	N	0.00410303429861943	0.42042	2.525722	0.177428571693123	0.48612	3.074859	0.98156320415579	0.30280	0.638212	0.43195	0	0.546412	0.12157	0	0.563428	0.18855	0	0.668105	0.65232	0	.	.	5.91	4.98	0.65679	1.759000	0.38049	5.896000	0.50824	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1322:0.74:0.1279:0.0	12.223	0.53755	745	0.52414	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	996.33	34	chr8	109618856	.	C	G	996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=726;ExcessHet=0;FS=5.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.687;SOR=1.201	GT:AD:DP:GQ:PL	0/1:69,38:107:99:1010,0,1827	18	0	1	0
chr8	115619644	115619644	T	C	exonic	TRPS1	.	nonsynonymous SNV	TRPS1:NM_001282902:exon2:c.A427G:p.M143V,TRPS1:NM_001330599:exon2:c.A415G:p.M139V,TRPS1:NM_001282903:exon3:c.A433G:p.M145V,TRPS1:NM_014112:exon3:c.A454G:p.M152V	Trichorhinophalangeal syndrome, type I, Autosomal dominant;Trichorhinophalangeal syndrome, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0248616196364	.	.	2.486e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs748075535	7.524e-06	7.524e-06	4.084e-06	1.1e-05	0.0001	4.04e-06	2.95e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.27904	T	0.669	0.08565	T	0.0	0.02946	B	0.0	0.01387	B	0.001818	0.37945	N	0.270733	0.963575	0.26018	N	-0.55	0.02420	N	-4.77	0.98126	D	-0.44	0.24026	N	0.098	0.07949	-0.0602	0.80989	T	0.735	0.90927	D	10	0.059805542	0.07247	T	0.024862	0.47845	T	0.262	0.57482	0.156	0.05964	0.309943084671	0.30607	0.047799412103521934	0.04722	0.0920514007103	0.10393	0.339460164309	0.16358	T	0.075846	0.35277	T	-0.150497	0.28232	T	-0.217287	0.52998	T	0.0640099741374896	0.07784	T	0.809319	0.45944	T	0.0912083	0.21366	0.11425695	0.27578	0.0912083	0.21366	0.11425695	0.27578	-2.001	0.03343	T	0.07514690579811513	0.03319	0.069	0.03964	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.687951	0.21508	15.23	0.95239154821500138	0.26480	0.67014	0.33280	D	AEFDBI	0.217970	0.34303	N	-0.245958451656377	0.31265	1.751381	0.0189620057705486	0.40595	2.425274	0.999998091404964	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.82	5.82	0.92740	1.783000	0.38294	6.206000	0.54953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.1104:0.1833:0.7063	5.002	0.13612	940	0.13648	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4337.81	33	chr8	115619644	.	T	C	4337.81	.	AC=2;AF=0.053;AN=38;DP=763;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.9;SOR=0.945	GT:AD:DP:GQ:PL	1/1:0,122:122:99:4365,366,0	18	1	0	0
chr8	120488314	120488314	A	G	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon12:c.A1321G:p.T441A	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0072	0.0081869	0.0023	0.0208	0.0012	0	0	0.0005	0.0023	0.0001	0.0021216	328	154602	rs73705079	0.0009	0.0010	0.0009	0.0009	0.0221	0.0009	0.0009	0.0207	0.0201	0.0221	0.0020	0.0004	0	0	0.0133	0.0003	0.0021	0.0002	0.0062	0.0062	0.0063	0.0061	0.0203	0.0059	0.0057	0.0192	0.0187	0.0203	0	0.0034	0	0	0	0.0136	0.0004	0.0085	0.0002	0.514	0.07401	T	0.498	0.11263	T	0.002	0.09854	B	0.002	0.06944	B	0.415794	0.12935	N	0.761051	1	0.08975	N	1.79	0.46772	L	.	.	.	-0.25	0.11008	N	0.133	0.12913	-1.0281	0.21070	T	0.016	0.06425	T	9	0.0036792457	0.00067	T	.	.	.	0.041	0.10877	.	.	0.151104730317	0.14643	0.1444410203532309	0.14367	0.147605214944	0.16655	0.266594558954	0.05701	T	0.032316	0.22431	T	-0.664382	0.00059	T	-0.71152	0.05218	T	0.000487948713852683	0.00004	T	0.510449	0.16283	T	0.03665509	0.04550	0.026101867	0.00682	0.03665509	0.04550	0.026101867	0.00682	-3.709	0.19451	T	.	.	0.074	0.05103	B	.	.	0.707193	0.10760	7.448	0.50440270083957073	0.04385	0.01682	0.05369	N	AEFGBI	0.021312	0.00936	N	-1.03108525949793	0.07963	0.3717751	-1.00980297621209	0.09568	0.4768195	0.0189973076549855	0.13118	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.97	0.358	0.15319	0.395000	0.20576	0.273000	0.16680	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.935000	0.47363	0.5239:0.1237:0.3524:0.0	7.409	0.26179	703	0.57489	MDM2-binding protein, central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006048	0.010101	0.005435	0.011765	0.000000	0.017241	0.000000	0.000000	0.02632	648.33	33	chr8	120488314	.	A	G	648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=691;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.291;SOR=0.846	GT:AD:DP:GQ:PL	0/1:36,26:62:99:662,0,976	18	0	1	0
chr8	123150123	123150123	C	T	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001363154:exon18:c.C2459T:p.T820I,TBC1D31:NM_001145088:exon19:c.C2774T:p.T925I,TBC1D31:NM_001363152:exon19:c.C2654T:p.T885I,TBC1D31:NM_001363153:exon19:c.C2630T:p.T877I,TBC1D31:NM_001363155:exon19:c.C2552T:p.T851I,TBC1D31:NM_001363156:exon19:c.C1562T:p.T521I,TBC1D31:NM_001330606:exon20:c.C2747T:p.T916I,TBC1D31:NM_001363148:exon20:c.C2867T:p.T956I,TBC1D31:NM_001363150:exon20:c.C2969T:p.T990I,TBC1D31:NM_001363149:exon21:c.C3032T:p.T1011I,TBC1D31:NM_145647:exon21:c.C3062T:p.T1021I	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	0.0008	0.00698882	0.0083	0.0010	0.0816	0	0	0.0006	0.0044	0.0002	0.0073867	1142	154602	rs145832961	0.0024	0.0024	0.0028	0.0021	0.0657	0.0024	0.0023	0.0637	0.0629	0.0007	0.0657	0	5.044e-05	7.49e-05	0.0007	0.0004	0.0016	0.0005	0.0035	0.0035	0.0032	0.0038	0.0281	0.0032	0.0031	0.0259	0.0251	0.0010	0	0.0281	0	0.0002	0	0	0.0006	0.0052	0.0004	0.025	0.49117	D	0.04	0.51421	D	0.112	0.26290	B	0.024	0.20255	B	0.310930	0.14435	N	0.620384	1	0.08975	N	1.79	0.46772	L	-0.4	0.77964	T	-1.24	0.37178	N	0.092	0.28498	-0.9304	0.44080	T	0.077	0.30828	T	10	0.0017227829	0.00022	T	.	.	.	0.125	0.34456	.	.	.	.	0.27283835865463935	0.27196	0.0841552114463	0.09491	0.367348968983	0.20451	T	0.005484	0.15579	T	-0.493858	0.00619	T	-0.427097	0.30264	T	0.00786303802567915	0.00092	T	0.665433	0.49530	T	0.078585066	0.17905	0.070688546	0.15048	0.078585066	0.17905	0.070688546	0.15048	-3.744	0.21988	T	.	.	0.108	0.28464	B	.;.;.;.;.	.;.;.;.;.	1.964415	0.24954	16.59	0.96975454180944443	0.31835	0.10907	0.16275	N	AEFGBI	0.032388	0.03648	N	-0.817263433466424	0.12870	0.6301343	-0.842525997580128	0.13467	0.6987704	0.999964006497209	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.41	2.52	0.29514	1.063000	0.30177	2.002000	0.30126	0.505000	0.23025	0.001000	0.13787	0.006000	0.19429	0.632000	0.32210	0.0:0.73:0.1729:0.0971	7.237	0.25252	920	0.19381	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	950.33	41	chr8	123150123	.	C	T	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.29;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.171;SOR=0.617	GT:AD:DP:GQ:PL	0/1:44,37:81:99:964,0,1200	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:100,38:149:96:96,0,1442	4	0	12	3
chr8	132100080	132100080	G	A	exonic	HHLA1	.	nonsynonymous SNV	HHLA1:NM_001145095:exon3:c.C194T:p.T65M	.	.	.	.	.	.	.	.	.	.	.	2202393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.02711588235	0.0011	0.000199681	0.0001	0.0014	0	0	0	0	0	0	2.59e-05	4	154602	rs377199177	7.505e-05	7.388e-05	8.181e-05	6.811e-05	0.0026	6.318e-05	5.846e-05	0.0022	0.0020	0.0026	0	0	2.798e-05	0	0.0002	6.49e-06	0.0002	2.524e-05	0.0007	0.0007	0.0008	0.0006	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0001	0	0.0002	0	0	1.47e-05	0.0005	0.0002	0.006	0.61437	D	0.024	0.59159	D	1.0	0.90584	D	0.951	0.68939	D	.	.	.	.	1	0.08975	N	1.955	0.52871	M	.	.	.	-2.01	0.46337	N	0.282	0.36569	-1.0020	0.29342	T	0.151	0.47944	T	8	0.0200485	0.00456	T	0.027116	0.49965	D	0.098	0.28162	.	.	0.0401082797425	0.02173	0.13392080382740013	0.13316	.	.	0.345793008804	0.17300	T	0.121788	0.44499	T	-0.351203	0.04652	T	-0.281559	0.46644	T	0.108317765684111	0.13249	T	0.775622	0.40735	T	0.047172196	0.08018	0.093908004	0.22205	0.047172196	0.08018	0.093908004	0.22205	-7.159	0.55186	T	.	.	0.155	0.35870	B	.;.	.;.	3.506220	0.49079	22.7	0.99702303208092324	0.80729	0.61333	0.31454	D	AEFBI	0.080338	0.16241	N	-0.00714980738356083	0.41530	2.485808	-0.145690691389297	0.33575	1.921971	5.83671322162926E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.63	2.74	0.31352	3.181000	0.50603	2.862000	0.35209	0.671000	0.69459	0.929000	0.32243	0.921000	0.28324	0.005000	0.06747	0.0:0.1627:0.6685:0.1688	8.970	0.35063	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2650.33	34	chr8	132100080	.	G	A	2650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.88;DP=841;ExcessHet=0;FS=0.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.436;SOR=0.751	GT:AD:DP:GQ:PL	0/1:87,100:187:99:2664,0,1819	18	0	1	0
chr8	133475900	133475900	A	G	exonic	ST3GAL1	.	nonsynonymous SNV	ST3GAL1:NM_003033:exon4:c.T125C:p.M42T,ST3GAL1:NM_173344:exon5:c.T125C:p.M42T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0056011704602	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762735522	1.573e-05	1.573e-05	1.77e-05	1.375e-05	2.068e-05	1.048e-05	8.75e-06	1.377e-05	1.15e-05	0	0	0	0	0	0	2.068e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.65419	T	0.499	0.92824	T	0.358	0.33818	B	0.093	0.30104	B	0.058805	0.22372	N	0.526568	0.971089	0.25671	N	2.455	0.71248	M	2.36	0.16089	T	-0.35	0.75854	N	0.367	0.40864	-1.0540	0.13305	T	0.042	0.17952	T	10	0.17242432	0.32015	T	0.005601	0.14469	T	0.120	0.33359	0.452	0.51448	0.209943299407	0.20609	0.6831909761826378	0.68258	.	.	0.406052827835	0.25910	T	0.090266	0.38549	T	-0.133271	0.30966	T	-0.429211	0.30025	T	0.416291654109955	0.29553	T	0.69773	0.30785	T	0.09148948	0.21439	0.08254129	0.18846	0.09148948	0.21438	0.08254129	0.18846	-1.326	0.01443	T	.	.	0.180	0.61224	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.580332	0.33455	19.34	0.97865870480737682	0.36499	0.94277	0.60656	D	AEFGBI	0.438087	0.49762	N	0.114486111247967	0.47138	2.943775	0.246174885406553	0.52433	3.418062	0.999922082624085	0.46280	0.706548	0.73137	0	0.577304	0.33150	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	3.959000	0.56451	10.569000	0.83441	0.658000	0.54486	0.984000	0.35821	1.000000	0.68203	0.982000	0.59238	1.0:0.0:0.0:0.0	13.199	0.59182	917	0.20147	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1746.33	40	chr8	133475900	.	A	G	1746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.876;DP=853;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.763;SOR=0.709	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1760,0,1782	18	0	1	0
chr8	140451166	140451166	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001160372:exon2:c.G208A:p.D70N,TRAPPC9:NM_001321646:exon2:c.G208A:p.D70N,TRAPPC9:NM_001374682:exon2:c.G208A:p.D70N,TRAPPC9:NM_001374683:exon2:c.G208A:p.D70N,TRAPPC9:NM_001374684:exon2:c.G208A:p.D70N,TRAPPC9:NM_031466:exon2:c.G208A:p.D70N	Mental retardation, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.670	0.0230825975959	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs187524836	2.052e-06	2.052e-06	0	4.125e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.131	0.38305	T	0.999	0.90584	D	0.984	0.77976	D	0.000000	0.84330	D	0.043957	0.999935	0.51612	D	2.34	0.67151	M	.	.	.	-3.85	0.74051	D	0.823	0.83269	-0.6238	0.63831	T	0.082	0.32237	T	9	0.8407812	0.83234	D	0.023083	0.46020	T	0.670	0.87771	.	.	0.262662153117	0.25859	0.7570386167073	0.75651	1.39057706076	0.84979	0.685470163822	0.65054	T	0.322853	0.69382	T	0.00619206	0.52504	T	-0.228882	0.51880	T	0.991126954555511	0.81382	D	0.962254	0.85785	D	0.5958332	0.72466	0.44706824	0.67799	0.5958332	0.72468	0.44706824	0.67800	-10.077	0.74372	D	.	.	0.450	0.69881	A	.;.;.;.	.;.;.;.	4.569133	0.72067	25.8	0.99915049524224508	0.98309	0.98592	0.84463	D	AEFDGBI	0.871464	0.79287	D	0.717713068359438	0.80794	7.37377	0.672682144464641	0.80312	7.270534	0.999999999514611	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	4.57	0.55860	7.798000	0.84489	7.577000	0.60860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.9283:0.0:0.0717	14.253	0.65578	987	0.02648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2164.33	232	chr8	140451166	.	C	T	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=2325;ExcessHet=0;FS=1.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.109;SOR=0.881	GT:AD:DP:GQ:PL	0/1:102,79:181:99:2178,0,2624	18	0	1	0
chr8	142664755	142664755	C	T	exonic	JRK	.	nonsynonymous SNV	JRK:NM_001077527:exon2:c.G1304A:p.R435H,JRK:NM_001279352:exon2:c.G1304A:p.R435H,JRK:NM_003724:exon2:c.G1304A:p.R435H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0007	0	0.0005	0	0	6.653e-05	0	0.0032	0.0003687	57	154602	rs587712483	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	9.091e-05	0	0	0	0	0.0002	8.166e-05	0.0003	0.0027	0.0002	0.0002	6.427e-05	0.0003	0.0046	0.0001	9.7e-05	0.0031	0.0026	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0046	.	.	.	0.142	0.33554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41	0.33412	T	.	.	.	0.053	0.03956	.	.	.	.	.	.	.	0.0044516027	0.00091	T	.	.	.	.	.	.	.	0.310458034454	0.30648	0.20467322533298568	0.20384	.	.	0.314672708511	0.12613	T	.	.	.	-0.525654	0.00407	T	-0.532457	0.19043	T	.	.	.	0.593841	0.21938	T	0.062292833	0.12995	0.075464904	0.16617	0.062292833	0.12994	0.075464904	0.16617	-4.785	0.34416	T	.	.	0.088	0.12228	B	.;.;.;.	.;.;.;.	1.364972	0.17746	13.34	0.45369236445793831	0.03556	0.05786	0.11720	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999697061442166	0.41870	0.115753	0.02995	0	0.12628	0.03447	0	0.17184	0.04098	0	0.117559	0.03655	0	0.0515843	0.10534	3.42	1.49	0.21966	0.450000	0.21475	0.215000	0.16006	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2561:0.6049:0.0:0.139	3.403	0.06906	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	622.33	44	chr8	142664755	.	C	T	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=1186;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=0.579;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,28:84:99:636,0,1462	18	0	1	0
chr8	143475412	143475412	G	T	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon5:c.C1889A:p.P630H	.	413	1101	8	0	0	8	0.00361991	.	.	.	2337609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00560903998931	0.0003	0.000599042	0.0003	0	0.0003	0	0	0.0001	0	0.0013	0.0002652	41	154602	rs149988955	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0009	0.0009	0	0.0004	0.0003	0	0	0.0014	5.127e-05	0.0004	0.0011	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	8.717e-05	0.0004	0.0003	0	0	6.535e-05	0	0	0	0.0034	0.0002	0	0.0010	0.01	0.56456	D	0.205	0.27145	T	0.006	0.13644	B	0.002	0.06944	B	0.855061	0.07082	U	1.933180	1	0.08975	N	1.265	0.31966	L	4.15	0.02815	T	-0.96	0.25551	N	0.068	0.04072	-0.9469	0.41498	T	0.009	0.03271	T	10	0.0066946745	0.00152	T	0.005609	0.14500	T	0.069	0.20116	.	.	0.043077524339	0.03247	0.4650455753762667	0.46423	.	.	0.377470850945	0.21896	T	0.005946	0.05392	T	-0.632281	0.00093	T	-0.721538	0.04722	T	0.0206447818091319	0.00764	T	0.50475	0.15921	T	0.07939326	0.18135	0.06943873	0.14631	0.07939326	0.18135	0.06943873	0.14631	-6.222	0.48101	T	.	.	0.126	0.26545	B	.	.	1.034095	0.14145	10.72	0.76474982598607943	0.11482	0.04115	0.09588	N	AEFGBI	0.051553	0.09119	N	-0.762031401253787	0.14308	0.7116981	-0.776873965959229	0.15063	0.7903104	0.967869339470747	0.29009	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.97	2.93	0.33092	-0.193000	0.09572	.	.	0.672000	0.70159	0.000000	0.06391	0.044000	0.21668	0.032000	0.13371	0.0918:0.1243:0.6036:0.1803	4.641	0.11933	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	998.33	34	chr8	143475412	.	G	T	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.946;DP=738;ExcessHet=0;FS=8.189;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=1.05;SOR=0.335	GT:AD:DP:GQ:PL	0/1:57,43:100:99:1012,0,1544	18	0	1	0
chr8	143693902	143693902	G	T	exonic	ZNF707	.	nonsynonymous SNV	ZNF707:NM_001288808:exon4:c.G380T:p.R127L,ZNF707:NM_001288809:exon4:c.G380T:p.R127L,ZNF707:NM_001100599:exon5:c.G488T:p.R163L,ZNF707:NM_001100598:exon6:c.G488T:p.R163L,ZNF707:NM_001288806:exon6:c.G488T:p.R163L,ZNF707:NM_001288807:exon6:c.G269T:p.R90L,ZNF707:NM_173831:exon7:c.G488T:p.R163L,ZNF707:NM_001288805:exon8:c.G488T:p.R163L	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00265009182441	.	0.000199681	0.0008	0	0	0	0	0	0	0.0052	0.0005627	87	154602	.	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	6.004e-05	0	0	2.53e-05	0	0	3.614e-06	0.0004	0.0057	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0046	0.0040	0	0	0	0	0	0	0	0	0	0.0064	1.0	0.00964	T	0.679	0.06128	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.295	0.00719	N	3.5	0.19588	T	3.12	0.00186	N	0.085	0.06190	-0.9846	0.33927	T	0.021	0.08963	T	8	0.0042155385	0.00084	T	0.00265	0.05406	T	0.057	0.16321	0.457	0.52265	0.0551355673512	0.04727	0.13791814954313353	0.13715	0.281793151328	0.30648	0.337628334761	0.16083	T	0.004667	0.04082	T	-0.548843	0.00296	T	-0.559233	0.16448	T	0.0165222542936939	0.00415	T	.	.	.	0.054127328	0.10343	0.05798384	0.10636	0.054127328	0.10343	0.05798384	0.10635	-2.589	0.06420	T	.	.	0.116	0.32275	B	.;.;.;.;.	.;.;.;.;.	-0.250374	0.02843	0.398	0.75353343464222455	0.11042	0.00233	0.01302	N	AEFDBI	0.044081	0.07050	N	-1.6948730732895	0.00860	0.03721321	-1.79964727606577	0.00760	0.03389893	0.978711146501501	0.29951	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	1.93	-3.87	0.03939	-0.183000	0.09707	.	.	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1894:0.1519:0.4019:0.2568	1.073	0.01525	917	0.20147	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	2226.33	147	chr8	143693902	.	G	T	2226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=2124;ExcessHet=0;FS=2.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.04;SOR=0.498	GT:AD:DP:GQ:PL	0/1:53,84:137:99:2240,0,1248	18	0	1	0
chr8	143694046	143694046	A	G	exonic	ZNF707	.	nonsynonymous SNV	ZNF707:NM_001288808:exon4:c.A524G:p.Q175R,ZNF707:NM_001288809:exon4:c.A524G:p.Q175R,ZNF707:NM_001100599:exon5:c.A632G:p.Q211R,ZNF707:NM_001100598:exon6:c.A632G:p.Q211R,ZNF707:NM_001288806:exon6:c.A632G:p.Q211R,ZNF707:NM_001288807:exon6:c.A413G:p.Q138R,ZNF707:NM_173831:exon7:c.A632G:p.Q211R,ZNF707:NM_001288805:exon8:c.A632G:p.Q211R	.	428	1092	2	0	0	2	0.000914913	.	.	.	3949038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.00804057607089	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0006	0.0001035	16	154602	rs537824762	9.001e-05	9.029e-05	6.287e-05	0.0001	0.0007	7.723e-05	7.265e-05	0.0006	0.0005	0	2.254e-05	0.0003	0	0	0.0002	4.955e-05	6.648e-05	0.0007	9.191e-05	9.186e-05	7.71e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	0.0002	0	0.0006	0.267	0.16198	T	0.122	0.35710	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999689	0.20694	N	-0.255	0.03828	N	2.33	0.16492	T	0.56	0.02680	N	0.052	0.02366	-0.9549	0.40114	T	0.016	0.06377	T	8	0.012540013	0.00269	T	0.008041	0.21316	T	0.046	0.12618	0.522	0.62518	0.0666544352282	0.05500	0.04254013010267436	0.04199	0.244761738464	0.26983	0.445693492889	0.31356	T	0.04327	0.26449	T	-0.611511	0.00124	T	-0.754259	0.03323	T	0.012332504316074	0.00200	T	.	.	.	0.020925686	0.00670	0.08418071	0.19346	0.020925686	0.00669	0.08418071	0.19346	-1.851	0.02665	T	.	.	0.173	0.38480	B	.;.;.;.	.;.;.;.	0.004756	0.04313	1.091	0.93009627171845355	0.22602	0.10638	0.16088	N	AEFDGBI	0.101933	0.20462	N	-1.06485441927053	0.07299	0.338658	-1.04511022468038	0.08808	0.4349597	0.982489936630028	0.30405	0.718356	0.82227	0	0.552637	0.17590	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	2.92	-1.96	0.07113	0.069000	0.14419	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.481000	0.28588	0.5889:0.1793:0.2318:0.0	4.042	0.09240	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;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	.	.	.	.	.	.	.	.	0.02632	1487.33	72	chr8	143694046	.	A	G	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.422;DP=1283;ExcessHet=0;FS=4.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.296;SOR=1.143	GT:AD:DP:GQ:PL	0/1:50,62:112:99:1501,0,1480	18	0	1	0
chr8	143837136	143837136	C	T	exonic	NRBP2	.	nonsynonymous SNV	NRBP2:NM_178564:exon14:c.G1166A:p.R389Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0243432334788	.	.	7.483e-05	0	0	0.0003	0	0	0	0.0004	5.82e-05	9	154602	rs782468299	3.151e-05	3.147e-05	2.588e-05	3.719e-05	0.0004	2.415e-05	2.16e-05	0.0003	0.0003	0	0	0	7.568e-05	0	0	3.601e-06	3.317e-05	0.0004	1.314e-05	1.312e-05	0	2.688e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.314	0.13834	T	0.653	0.06666	T	0.223	0.30377	B	0.011	0.15521	B	0.004866	0.33312	U	0.248861	0.682425	0.31233	N	1.665	0.42610	L	1.35	0.34648	T	-0.63	0.18459	N	0.618	0.63374	-0.7696	0.56879	T	0.174	0.51722	T	10	0.30552033	0.48068	T	0.024343	0.47327	T	0.090	0.26093	0.417	0.45709	0.311387274539	0.30754	0.5806826456019047	0.57997	0.227729106917	0.25330	0.489545345306	0.37375	T	0.003411	0.02819	T	-0.361073	0.04069	T	-0.426432	0.30340	T	0.13687483499534	0.16003	T	0.928807	0.73814	D	0.10912534	0.25800	0.11400024	0.27515	0.10912534	0.25800	0.11400024	0.27514	-4.709	0.33513	T	.	.	0.112	0.22024	B	.	.	4.419869	0.68443	25.2	0.99722316123185595	0.82125	0.85910	0.45099	D	AEFDBI	0.715825	0.66786	D	0.305345792483122	0.56422	3.806925	0.287438001507485	0.54804	3.64451	0.999999459189424	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.199000	0.77351	.	.	0.549000	0.26987	0.980000	0.35271	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	15.595	0.76314	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1219.33	34	chr8	143837136	.	C	T	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=728;ExcessHet=0;FS=2.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.779;SOR=0.718	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1233,0,1435	18	0	1	0
chr8	143866614	143866614	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6640A:p.D2214N	.	.	.	.	.	.	.	.	.	.	.	3671235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.0138054122266	.	.	0.0002	0	0	0	0	1.68e-05	0	0.0012	6.5e-06	1	154602	rs762120294	7.258e-05	7.251e-05	5.858e-05	8.671e-05	0.0008	6.12e-05	5.705e-05	0.0006	0.0006	2.987e-05	0	0	0.0002	0	0	2.428e-05	6.627e-05	0.0008	4.595e-05	4.593e-05	3.853e-05	5.37e-05	0.0002	2.107e-05	1.526e-05	4.88e-06	1.83e-06	2.405e-05	0	6.533e-05	0	0.0002	0	0	2.94e-05	0.0005	0.0002	.	.	.	0.017	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.08	0.57402	M	.	.	.	.	.	.	0.054	0.02964	-0.9743	0.36279	T	0.179	0.52504	T	9	0.05122474	0.04971	T	0.013805	0.33474	T	.	.	0.291	0.25241	0.603433923166	0.60026	0.5302967302634154	0.52953	.	.	0.239207223058	0.02720	T	0.122529	0.44626	T	-0.304952	0.08201	T	-0.675819	0.07241	T	0.0965253561735153	0.11970	T	0.371963	0.08817	T	0.055531405	0.10804	0.056865603	0.10236	0.055531405	0.10804	0.056865603	0.10236	-7.0	0.54034	T	.	.	0.107	0.20235	B	.;.	.;.	2.018159	0.25648	16.84	0.97783511376761656	0.35951	0.44638	0.27362	N	AEFDGBHCI	0.173681	0.30078	N	-0.583990556502542	0.19431	1.016892	-0.70767883368075	0.16770	0.8886736	0.999999978733461	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.634913	0.45138	1	0.562822	0.20929	0	.	.	4.66	2.88	0.32617	2.141000	0.41792	.	.	-0.266000	0.06809	0.071000	0.22100	0.000000	0.08366	0.000000	0.00833	0.0:0.8174:0.0:0.1826	8.899	0.34641	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3008.33	34	chr8	143866614	.	C	T	3008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=933;ExcessHet=0;FS=1.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.81;MQRankSum=0.037;QD=18.8;ReadPosRankSum=0.945;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,79:160:99:0|1:143866611_G_A:3022,0,3105:143866611	18	0	1	0
chr9	16867	16867	T	C	exonic	WASHC1	.	nonsynonymous SNV	WASHC1:NM_001378090:exon8:c.A893G:p.D298G,WASHC1:NM_182905:exon8:c.A893G:p.D298G	.	798	721	2	1	0	4	0.00276625	.	.	.	3338910	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0263	0	0	.	0.005	0	0.0027	6.5e-06	1	154602	rs781368945	0.0015	0.0015	0.0015	0.0015	0.0067	0.0014	0.0014	0.0041	0.0033	0.0007	0.0006	0	5.472e-05	0.0003	0.0067	0.0020	0.0016	0.0003	0.0016	0.0014	0.0018	0.0014	0.0022	0.0013	0.0012	0.0017	0.0015	0.0008	0	0.0021	0	0	0	0.0122	0.0022	0	0	.	.	.	0.253	0.23501	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	.	.	.	2.125	0.59049	M	.	.	.	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0070742667	0.00161	T	.	.	.	.	.	.	.	0.119812018005	0.11559	0.3171646470113426	0.31629	.	.	0.706002891064	0.68014	T	0.020644	0.16215	T	-0.163058	0.26291	T	-0.107835	0.62783	T	.	.	.	0.556944	0.19352	T	0.12773436	0.29883	0.24014801	0.49382	0.12773436	0.29883	0.24014801	0.49381	-2.859	0.08739	T	.	.	0.065	0.01834	B	.	.	1.178198	0.15685	12.03	0.73312765601463448	0.10283	0.04138	0.09621	N	AEFI	.	.	.	.	.	.	.	.	.	3.08722765023341E-5	0.03498	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0852691	0.19417	1.18	0.00647	0.13388	-0.201000	0.09466	-1.730000	0.04832	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.090000	0.17789	0.0:0.2788:0.0:0.7212	3.021	0.05709	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	.	.	.	.	.	.	.	.	0.06667	159.59	3	chr9	16867	.	T	C	159.59	.	AC=2;AF=0.067;AN=30;DP=52;ExcessHet=0;FS=0;InbreedingCoeff=0.3912;MLEAC=2;MLEAF=0.067;MQ=34.5;QD=31.92;SOR=3.611	GT:AD:DP:GQ:PL	1/1:0,5:5:15:180,15,0	14	1	0	4
chr9	121567	121567	T	A	exonic	CBWD1	.	nonsynonymous SNV	CBWD1:NM_001145356:exon14:c.A1031T:p.N344I,CBWD1:NM_018491:exon15:c.A1088T:p.N363I,CBWD1:NM_001145355:exon16:c.A980T:p.N327I	.	603	913	6	0	0	6	0.00327511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	.	0.0159744	0.0098	0.0011	0.0550	0.0391	0.0079	0.0016	0.0067	0.0018	0.0009573	148	154602	rs141981893	0.0030	0.0031	0.0032	0.0027	0.0425	0.0029	0.0028	0.0409	0.0403	0.0004	0.0425	0.0009	0.0346	0.0061	0.0005	0.0003	0.0039	0.0019	0.0040	0.0042	0.0033	0.0048	0.0371	0.0038	0.0037	0.0328	0.0312	0.0008	0	0.0170	0.0017	0.0371	0.0067	0	0.0003	0.0033	0.0040	0.004	0.65419	D	0.076	0.51421	T	0.972	0.57405	D	0.885	0.62898	P	0.000000	0.84330	D	0.050232	1	0.81001	D	3.455	0.92281	M	2.11	0.19860	T	-5.01	0.82450	D	0.565	0.74280	-0.8565	0.51513	T	0.135	0.45029	T	10	0.009170234	0.00207	T	.	.	.	0.258	0.56959	.	.	0.526174771278	0.52262	0.062268376364465076	0.06166	.	.	0.564214527607	0.47861	T	0.094891	0.70642	T	-0.373797	0.03406	T	-0.283947	0.46399	T	0.043995979828565	0.04419	T	0.965703	0.92384	D	0.67332125	0.76611	0.47839704	0.69785	0.67332125	0.76612	0.47839704	0.69785	-8.873	0.69632	D	.	.	0.388	0.63071	A	.;.;.;.;.	.;.;.;.;.	4.527752	0.71055	25.6	0.99211622578463909	0.55594	0.96159	0.67803	D	AEFI	0.757345	0.69633	D	0.520339410941653	0.68294	5.19737	0.389247430327605	0.60902	4.283128	0.00361152661445483	0.10202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.571000	0.60593	7.810000	0.69404	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	9.583	0.38666	934	0.15400	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001252	0.000000	0.001370	0.000000	0.000000	0.000000	0.004065	0.000000	0.07895	4850.79	34	chr9	121567	.	T	A	4850.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.702;DP=1072;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.83;MQRankSum=0.321;QD=9.42;ReadPosRankSum=-0.934;SOR=0.692	GT:AD:DP:GQ:PL	0/1:73,92:165:99:2410,0,1835	16	0	3	0
chr9	1056479	1056479	G	A	exonic	DMRT2	.	nonsynonymous SNV	DMRT2:NM_001370532:exon3:c.G370A:p.D124N,DMRT2:NM_181872:exon4:c.G892A:p.D298N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0203861764419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.152	0.34241	T	0.931	0.51899	P	0.444	0.45865	B	0.000206	0.47681	D	0.139173	0.999999	0.81001	D	1.735	0.44892	L	1.74	0.26301	T	-1.41	0.34795	N	0.282	0.36674	-1.0154	0.25207	T	0.132	0.44425	T	10	0.35925543	0.52598	T	0.020386	0.42975	T	0.097	0.27909	0.22	0.14224	0.528109557721	0.52457	0.18303875116768045	0.18222	0.0298914109746	0.03076	0.475786834955	0.35478	T	0.246695	0.61620	T	-0.166989	0.25690	T	-0.477645	0.24696	T	0.937410891056061	0.60718	D	0.941306	0.78426	D	0.21663357	0.44127	0.24763617	0.50298	0.21663357	0.44127	0.24763617	0.50297	-3.458	0.15849	T	.	.	0.151	0.39545	B	.;.;.	.;.;.	4.296966	0.65572	24.8	0.99843756626027469	0.92403	0.98942	0.88948	D	AEFBI	0.916403	0.88257	D	0.604740858467949	0.73474	5.971982	0.605067298949451	0.75308	6.287455	0.999999999953563	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	9.356000	0.96506	11.905000	0.99459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.525000	0.29590	0.0:0.0:1.0:0.0	19.073	0.93131	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1973.33	38	chr9	1056479	.	G	A	1973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=872;ExcessHet=0;FS=6.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.096;SOR=0.416	GT:AD:DP:GQ:PL	0/1:87,73:160:99:1987,0,2561	18	0	1	0
chr9	13224492	13224492	G	A	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon4:c.C275T:p.S92L,MPDZ:NM_001261407:exon4:c.C275T:p.S92L,MPDZ:NM_001330637:exon4:c.C275T:p.S92L,MPDZ:NM_001375413:exon4:c.C275T:p.S92L,MPDZ:NM_001375416:exon4:c.C275T:p.S92L,MPDZ:NM_001375417:exon4:c.C275T:p.S92L,MPDZ:NM_001375419:exon4:c.C275T:p.S92L,MPDZ:NM_001375420:exon4:c.C275T:p.S92L,MPDZ:NM_001375422:exon4:c.C275T:p.S92L,MPDZ:NM_001375424:exon4:c.C275T:p.S92L,MPDZ:NM_001375425:exon4:c.C275T:p.S92L,MPDZ:NM_001375426:exon4:c.C275T:p.S92L,MPDZ:NM_001375427:exon4:c.C275T:p.S92L,MPDZ:NM_001378778:exon4:c.C275T:p.S92L,MPDZ:NM_003829:exon4:c.C275T:p.S92L,MPDZ:NM_001375418:exon5:c.C275T:p.S92L,MPDZ:NM_001375421:exon5:c.C275T:p.S92L,MPDZ:NM_001375423:exon5:c.C275T:p.S92L	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	421	1079	22	0	0	22	0.0100917	.	.	.	700852	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.095	.	0.0096	0.00599042	0.0083	0.0023	0.0068	0	0.0014	0.0115	0.0123	0.0065	0.0083246	1287	154602	rs17273542	0.0098	0.0098	0.0098	0.0097	0.0109	0.0097	0.0096	0.0107	0.0106	0.0018	0.0071	0.0261	5.044e-05	0.0006	0.0078	0.0109	0.0090	0.0062	0.0081	0.0081	0.0087	0.0076	0.0118	0.0078	0.0076	0.0111	0.0109	0.0029	0	0.0079	0.0314	0.0002	0.0005	0.0068	0.0118	0.0118	0.0101	0.149	0.25768	T	0.106	0.38160	T	0.009	0.21357	B	0.01	0.14941	B	0.747694	0.06466	N	1.165660	0.645502	0.30579	N	1.265	0.31966	L	2.75	0.12162	T	-2.61	0.57599	D	0.085	0.25989	-1.0976	0.04394	T	0.021	0.08963	T	10	0.0025561154	0.00039	T	.	.	.	0.095	0.27398	.	.	0.226586394389	0.22295	0.3798154312318193	0.37896	.	.	0.314647942781	0.12610	T	0.086555	0.37749	T	-0.57965	0.00194	T	-0.596008	0.13150	T	0.0239922070018045	0.01144	T	0.868613	0.57103	D	0.061749417	0.12821	0.097543254	0.23223	0.044899855	0.07259	0.097543254	0.23222	-5.163	0.38563	T	.	.	0.082	0.11654	B	.;.;.;.;.;.	.;.;.;.;.;.	2.647875	0.34467	19.64	0.98678853313950343	0.44581	0.77338	0.38014	D	AEFBHCI	0.207201	0.33340	N	-0.390346412872848	0.25812	1.403984	-0.29000527626026	0.28426	1.584936	0.373615862764626	0.19894	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.86	3.03	0.34070	3.727000	0.54711	3.934000	0.40555	0.676000	0.76740	0.990000	0.36992	0.996000	0.32793	0.994000	0.71098	0.1319:0.0:0.7408:0.1273	8.438	0.31961	613	0.66686	.;.;.;.;.;.	.	.	.	.	.	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	0.009577	0.005102	0.012228	0.005848	0.000000	0.000000	0.015244	0.007576	0.02632	976.33	33	chr9	13224492	.	G	A	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.605;DP=704;ExcessHet=0;FS=0.817;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.348;SOR=0.846	GT:AD:DP:GQ:PL	0/1:44,43:87:99:990,0,1061	18	0	1	0
chr9	16436035	16436035	C	T	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_001317939:exon5:c.G2033A:p.R678Q,BNC2:NM_001317940:exon5:c.G1874A:p.R625Q,BNC2:NM_017637:exon6:c.G2159A:p.R720Q	.	419	1099	4	0	0	4	0.00181653	.	.	.	1454913	not_provided|BNC2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0170825900815	0.0014	.	0.0008	9.612e-05	0.0003	0	0.0002	0.0011	0.0011	0.0008	0.0007115	110	154602	rs147575972	0.0010	0.0010	0.0010	0.0010	0.0011	0.0010	0.0009	0.0011	0.0011	0.0002	0.0002	0.0022	0	7.488e-05	0.0005	0.0011	0.0010	0.0008	0.0006	0.0006	0.0006	0.0007	0.0011	0.0005	0.0005	0.0009	0.0008	0	0	0.0002	0.0032	0	0.0002	0	0.0011	0.0005	0.0004	0.014	0.54683	D	0.236	0.35970	T	0.957	0.60381	D	0.257	0.39298	B	0.000000	0.84330	D	0.048258	1	0.81001	D	0.895	0.22405	L	1.18	0.58613	T	-0.54	0.16598	N	0.706	0.72835	-0.8671	0.50746	T	0.179	0.52582	T	10	0.017489284	0.00374	T	0.017083	0.38630	T	0.151	0.39764	.	.	0.123314135267	0.11883	0.2623382753811939	0.26146	0.371563017689	0.38657	0.706955969334	0.68151	T	0.070668	0.34018	T	-0.18161	0.23497	T	-0.0741803	0.65327	T	0.0594813993969567	0.07087	T	0.966003	0.89432	D	0.2316151	0.45935	0.16439453	0.38084	0.22975115	0.45718	0.18306762	0.41272	-3.83	0.21253	T	.	.	0.106	0.49226	B	.;.;.;.;.	.;.;.;.;.	4.428038	0.68647	25.3	0.99895888182557258	0.96895	0.98154	0.80066	D	AEFGBI	0.822935	0.74316	D	0.291008812123101	0.55691	3.733266	0.360591588701678	0.59149	4.090296	0.999999999794404	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.57	4.67	0.58089	4.972000	0.63471	6.030000	0.52909	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1367:0.8633:0.0:0.0	15.853	0.78731	353	0.85335	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	3105.33	39	chr9	16436035	.	C	T	3105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.36;DP=864;ExcessHet=0;FS=1.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.688;SOR=0.816	GT:AD:DP:GQ:PL	0/1:109,105:214:99:3119,0,2597	18	0	1	0
chr9	26998232	26998232	A	-	exonic	LRRC19	.	frameshift deletion	LRRC19:NM_022901:exon3:c.91delT:p.C31Vfs*10	.	549	972	1	0	0	1	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.173e-05	0	0	0	0	2.165e-05	0	0	6.5e-06	1	154602	rs753871937	2.004e-05	1.918e-05	1.977e-05	2.032e-05	2.265e-05	1.394e-05	1.185e-05	1.508e-05	1.26e-05	0	0	0	0	0	0	2.265e-05	5.638e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000505	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	935.29	43	chr9	26998231	.	CA	C	935.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=705;ExcessHet=0;FS=9.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.3;SOR=2.049	GT:AD:DP:GQ:PL	0/1:33,28:61:99:949,0,1144	18	0	1	0
chr9	32784220	32784220	G	A	exonic	TMEM215	.	nonsynonymous SNV	TMEM215:NM_212558:exon2:c.G37A:p.V13M	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.00570930030457	0.0023	0.00259585	0.0020	0.0008	0.0005	0	0.0009	0.0028	0.0022	0.0020	0.0020246	313	154602	rs148075631	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0006	0.0008	0	0	0.0007	0.0017	0.0029	0.0022	0.0020	0.0015	0.0015	0.0017	0.0013	0.0026	0.0013	0.0013	0.0023	0.0022	0.0004	0	0.0012	0	0	0.0006	0	0.0026	0.0009	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.982	0.75477	D	0.000011	0.62929	D	0.000000	0.998715	0.45323	D	1.04	0.26193	L	.	.	.	-3.0	0.62343	D	0.661	0.67045	-0.5713	0.65963	T	0.207	0.56594	T	9	0.0113509	0.00249	T	0.005709	0.14802	T	0.307	0.62838	.	.	0.0716867268079	0.06686	0.847586569749064	0.84719	0.923174689541	0.71542	0.809573411942	0.83428	D	0.145591	0.48278	T	-0.211888	0.19114	T	-0.0801901	0.64890	T	0.0251401476407087	0.01291	T	0.882712	0.60367	D	0.7261686	0.79507	0.77707905	0.86850	0.7261686	0.79508	0.77707905	0.86851	-3.847	0.21508	T	.	.	0.970	0.89359	P	.	.	5.077397	0.84722	28.4	0.99620192890225223	0.75353	0.85635	0.44789	D	AEFDBCI	0.646792	0.62220	D	0.595827767695314	0.72913	5.88124	0.625104581836217	0.76768	6.552249	0.999994894934338	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	5.31	5.31	0.75063	5.934000	0.69855	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.471	0.83954	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3251.33	34	chr9	32784220	.	G	A	3251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.277;DP=872;ExcessHet=0;FS=3.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.44;SOR=0.92	GT:AD:DP:GQ:PL	0/1:92,125:217:99:3265,0,2218	18	0	1	0
chr9	34728058	34728058	G	C	exonic	FAM205A	.	nonsynonymous SNV	FAM205A:NM_001141917:exon3:c.C215G:p.A72G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00993855200697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.145e-07	6.84e-07	1.41e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.194	0.28120	T	0.998	0.73220	D	0.947	0.68407	D	0.927224	0.08446	U	0.945458	0.998981	0.21738	N	3.07	0.87108	M	1.75	0.26152	T	-2.19	0.49352	N	0.237	0.26717	-1.0446	0.15942	T	0.127	0.43421	T	10	0.15398198	0.29054	T	0.009939	0.25878	T	0.049	0.13647	0.198	0.11110	0.136095386433	0.13204	0.026729605435350186	0.02622	.	.	0.376287698746	0.21729	T	0.014406	0.12270	T	-0.184332	0.23093	T	-0.502556	0.22083	T	0.858574151992798	0.50922	D	0.717028	0.32946	T	0.15866643	0.35685	0.18348075	0.41340	0.15866643	0.35684	0.18348075	0.41339	-4.285	0.27966	T	.	.	0.133	0.28693	B	.	.	3.610713	0.51048	23.0	0.99192174247487519	0.55024	0.13474	0.17876	N	AEFDBI	0.110265	0.21872	N	0.21060842854183	0.51711	3.350378	0.107968170408209	0.44954	2.767424	0.498734386261873	0.20924	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	3.56	0.39892	1.022000	0.29655	0.901000	0.22550	0.662000	0.56354	0.299000	0.25315	0.000000	0.08366	0.789000	0.37270	0.1092:0.0:0.8908:0.0	8.265	0.30966	460	0.78750	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	787.33	35	chr9	34728058	.	G	C	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.709;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.081;SOR=0.693	GT:AD:DP:GQ:PL	0/1:44,34:78:99:801,0,1154	18	0	1	0
chr9	35609467	35609467	C	T	exonic	TESK1	.	nonsynonymous SNV	TESK1:NM_001318230:exon9:c.C1126T:p.R376W,TESK1:NM_006285:exon10:c.C1606T:p.R536W	.	405	1102	15	0	0	15	0.0067598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0590992691313	0.0005	0.00119808	0.0017	0.0001	0.0003	0	0	0.0008	0.0048	0.0096	0.0015459	239	154602	rs142237307	0.0014	0.0014	0.0011	0.0017	0.0093	0.0014	0.0013	0.0087	0.0085	0.0002	0.0003	3.925e-05	2.526e-05	0.0001	0.0035	0.0010	0.0013	0.0093	0.0009	0.0009	0.0008	0.0009	0.0087	0.0007	0.0007	0.0066	0.0059	0.0002	0	0.0004	0	0	9.409e-05	0.0068	0.0010	0.0024	0.0087	0.021	0.49117	D	0.049	0.48336	D	0.998	0.73220	D	0.672	0.53180	P	0.000849	0.41440	D	0.000000	0.899847	0.27722	N	0.55	0.14455	N	-1.01	0.76168	T	-1.24	0.31375	N	0.413	0.50146	-0.6461	0.62883	T	0.287	0.65928	T	10	0.0065475404	0.00148	T	0.059099	0.67549	D	0.368	0.68757	.	.	0.401767401478	0.39795	0.28985926085404706	0.28898	0.341483176748	0.36081	0.686551809311	0.65210	T	0.054849	0.29839	T	-0.285391	0.10104	T	-0.175756	0.56915	T	0.0295003317975454	0.01913	T	0.889511	0.62170	D	0.074388996	0.16690	0.061992697	0.12058	0.074388996	0.16690	0.061992697	0.12058	-4.705	0.33465	T	.	.	0.108	0.26482	B	.;.	.;.	3.759876	0.53945	23.4	0.99731167070129467	0.82761	0.37865	0.25858	N	AEFDBI	0.196444	0.32342	N	-0.111901396523476	0.36875	2.137384	-0.104612474088652	0.35204	2.033942	0.999943329219494	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.17	0.34	0.15224	-0.074000	0.11410	2.323000	0.32147	0.589000	0.31548	0.290000	0.25233	1.000000	0.68203	0.998000	0.85391	0.4871:0.4247:0.0:0.0881	7.764	0.28133	234	0.90879	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.011364	0.05263	2585.83	34	chr9	35609467	.	C	T	2585.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=779;ExcessHet=0.119;FS=2.761;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.551;SOR=0.939	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1557,0,1022	17	0	2	0
chr9	67884532	67884532	A	G	exonic	ANKRD20A1	.	nonsynonymous SNV	ANKRD20A1:NM_032250:exon9:c.A941G:p.H314R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000606444568377	0.0018	0.000399361	0.0010	0.0003	0.0013	0	0.0002	0.0016	0	6.11e-05	0.0003842	10	26028	rs139276025	0.0014	0.0017	0.0015	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0003	0.0017	3.835e-05	0	0.0001	0	0.0017	0.0016	4.661e-05	0.0011	0.0012	0.0011	0.0011	0.0021	0.0010	0.0009	0.0016	0.0015	0.0002	0	0.0021	0	0	0	0	0.0019	0.0005	0	.	.	.	0.549	0.92824	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.155	0.16028	-1.0320	0.19809	T	0.043	0.18410	T	9	0.011005074	0.00242	T	6.06E-4	0.00274	T	.	.	.	.	0.236619781664	0.23270	0.031188446058017974	0.03067	.	.	0.753826260567	0.75012	T	0.015158	0.12765	T	-0.262057	0.12660	T	-0.614203	0.11645	T	0.00462478967395401	0.00049	T	0.348865	0.07732	T	0.025659533	0.01529	0.050008293	0.07760	0.025659533	0.01529	0.050008293	0.07760	-2.315	0.04638	T	.	.	0.088	0.11654	B	.;.	.;.	1.028366	0.14083	10.65	0.45089399023850046	0.03513	0.00557	0.02543	N	AEFI	0.026943	0.02113	N	-1.20384051821368	0.04943	0.2242267	-1.2896080144421	0.04570	0.2158663	1.09548561086191E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.19	-0.0419	0.13194	1.451000	0.34756	-0.953000	0.06806	0.140000	0.17674	0.052000	0.21487	0.000000	0.08366	0.089000	0.17737	0.737:0.0:0.263:0.0	3.178	0.06183	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	0.000583	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	571.33	38	chr9	67884532	.	A	G	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.058;DP=688;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.65;MQRankSum=0.286;QD=11.43;ReadPosRankSum=0.301;SOR=0.54	GT:AD:DP:GQ:PL	0/1:24,26:50:99:585,0,501	18	0	1	0
chr9	67897631	67897631	T	G	exonic	ANKRD20A1	.	nonsynonymous SNV	ANKRD20A1:NM_032250:exon13:c.T1225G:p.S409A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0008514207249	.	0.000998403	0	0	.	0	0	0	0	0	0.0001921	5	26028	rs201860412	0.0022	0.0021	0.0022	0.0022	0.0036	0.0021	0.0021	0.0029	0.0026	0.0012	0.0036	6.171e-05	0	0.0001	0	0.0026	0.0026	0.0003	0.0020	0.0024	0.0021	0.0019	0.0035	0.0018	0.0017	0.0025	0.0022	0.0016	0	0.0035	0	0	0	0	0.0026	0	0	.	.	.	0.389	0.15554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	0.06691009	0.09246	T	.	.	.	.	.	.	.	.	.	0.011010368955483286	0.01062	.	.	.	.	.	3.77E-4	0.00113	T	.	.	.	.	.	.	.	.	.	0.164184	0.01497	T	.	.	.	.	.	.	.	.	-3.369	0.14642	T	.	.	0.049	0.00117	B	.	.	-0.549633	0.01715	0.126	.	.	.	.	.	.	0.009866	0.00062	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026000	0.13490	.	.	0.126000	0.17648	0.001000	0.13787	.	.	0.184000	0.21420	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	508.13	13	chr9	67897631	.	T	G	508.13	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.586;DP=233;ExcessHet=0;FS=2.732;InbreedingCoeff=0.1675;MLEAC=1;MLEAF=0.028;MQ=30.71;MQRankSum=0.609;QD=21.17;ReadPosRankSum=2.27;SOR=1.376	GT:AD:DP:GQ:PL	0/1:3,21:24:6:521,0,6	17	0	1	1
chr9	71698017	71698017	T	C	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon19:c.A3376G:p.T1126A,CEMIP2:NM_001349784:exon20:c.A1651G:p.T551A,CEMIP2:NM_013390:exon20:c.A3565G:p.T1189A	.	424	1086	11	1	0	13	0.00594966	.	.	.	2427603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00380662956895	0.0005	0.000798722	0.0009	9.61e-05	0.0009	0	0.0005	0.0012	0.0022	0.0010	0.0008732	135	154602	rs201694886	0.0006	0.0006	0.0006	0.0007	0.0080	0.0006	0.0006	0.0062	0.0055	0.0003	0.0005	0.0031	0	0.0003	0.0080	0.0005	0.0012	0.0013	0.0007	0.0007	0.0006	0.0007	0.0010	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0007	0.0017	0	0	0.0238	0.0010	0.0009	0.0004	0.524	0.25664	T	0.536	0.24987	T	0.001	0.09854	B	0.003	0.14300	B	0.118133	0.19126	N	0.580439	1	0.08975	N	.	.	.	0.81	0.48460	T	-1.59	0.40850	N	0.173	0.23884	-1.0468	0.15303	T	0.062	0.25672	T	10	0.006872356	0.00156	T	0.003807	0.08899	T	0.094	0.27141	.	.	0.223146558224	0.21909	0.578841830112091	0.57813	0.168028649199	0.18950	0.297638714314	0.10050	T	0.028113	0.20438	T	-0.556924	0.00265	T	-0.613293	0.11718	T	0.0203770377283535	0.00737	T	0.59944	0.32403	T	0.029134512	0.02360	0.031483978	0.01744	0.029134512	0.02359	0.031483978	0.01744	-3.313	0.13906	T	.	.	0.065	0.04517	B	.;.;.	.;.;.	1.761415	0.22403	15.61	0.89515854337299094	0.18863	0.86564	0.45870	D	AEFDGBI	0.133103	0.25265	N	-0.733214468905173	0.15093	0.7576322	-0.661355988984465	0.17930	0.955628	0.983492907210702	0.30569	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	-1.14	0.09241	2.364000	0.43840	1.331000	0.25669	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1281:0.1347:0.2266:0.5106	1.857	0.02988	871	0.31377	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.009511	0.011696	0.000000	0.008621	0.000000	0.003788	0.02632	362.33	36	chr9	71698017	.	T	C	362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.298;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.359;SOR=0.733	GT:AD:DP:GQ:PL	0/1:37,18:55:99:376,0,980	18	0	1	0
chr9	77283429	77283429	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018038:exon30:c.A3193G:p.I1065V,VPS13A:NM_015186:exon30:c.A3193G:p.I1065V,VPS13A:NM_033305:exon30:c.A3193G:p.I1065V	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	902388	Inborn_genetic_diseases|not_provided|Chorea-acanthocytosis	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0138119321172	0.0002	0.000199681	0.0002	0.0003	0	0	0	0.0001	0.0011	0.0007	0.0001876	29	154602	rs143067406	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0008	0.0008	3.002e-05	0	0	0	0	0	0.0003	0.0003	0.0010	0.0001	0.0001	0.0001	0.0001	0.0012	7.575e-05	6.28e-05	0.0005	0.0004	7.217e-05	0	6.542e-05	0	0	0	0	0.0001	0	0.0012	0.788	0.04548	T	0.674	0.18125	T	0.907	0.67487	P	0.386	0.76457	B	0.000000	0.84330	D	0.000000	0.999995	0.81001	D	0.885	0.21608	L	1.12	0.40469	T	-0.19	0.10308	N	0.292	0.35514	-0.9404	0.42552	T	0.163	0.49914	T	10	0.053472877	0.05545	T	0.013812	0.33491	T	0.088	0.25558	.	.	0.510054698054	0.50647	0.2241731340723403	0.22332	0.31135291084	0.33438	0.511957108974	0.40496	T	0.167845	0.51462	T	-0.397206	0.02415	T	-0.406714	0.32604	T	0.0955825315845942	0.11864	T	0.90121	0.65680	D	0.118028656	0.27814	0.1332132	0.31948	0.118028656	0.27814	0.1332132	0.31948	-5.354	0.40474	T	.	.	0.151	0.33412	B	.;.;.;.;.;.	.;.;.;.;.;.	4.260994	0.64760	24.7	0.97004974942853761	0.31961	0.98573	0.84247	D	AEFGBI	0.878562	0.80391	D	0.453747219397179	0.64417	4.695664	0.547606844053815	0.71228	5.623378	0.999990648458084	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.74	5.74	0.90070	8.014000	0.88267	9.364000	0.80397	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.038	0.80445	770	0.49152	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1301.33	33	chr9	77283429	.	A	G	1301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.316;SOR=0.65	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1315,0,1401	18	0	1	0
chr9	90845581	90845581	A	G	exonic	SYK	.	nonsynonymous SNV	SYK:NM_001135052:exon3:c.A565G:p.N189D,SYK:NM_001174167:exon3:c.A565G:p.N189D,SYK:NM_001174168:exon3:c.A565G:p.N189D,SYK:NM_003177:exon3:c.A565G:p.N189D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.113939374023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.025	0.20508	B	0.000000	0.84330	N	0.046720	0.999999	0.58761	D	-0.685	0.02019	N	-2.75	0.90792	D	1.04	0.06739	N	0.14	0.17966	-0.6428	0.63026	T	0.359	0.72124	T	10	0.23337623	0.40354	T	0.113939	0.79261	D	0.276	0.59253	0.529	0.63560	0.773140178029	0.77105	0.7610669472505758	0.76054	1.56828028248	0.88144	0.551123082638	0.46016	T	0.265312	0.63716	T	-0.0119794	0.49989	T	-0.254984	0.49324	T	0.605934619903564	0.36637	D	0.787421	0.42665	T	0.15410736	0.34899	0.08381145	0.19236	0.15410736	0.34898	0.08381145	0.19236	-5.704	0.43871	T	.	.	0.296	0.52696	B	.;.;.;.	.;.;.;.	1.468015	0.18916	13.99	0.28312806622893838	0.01448	0.91614	0.53897	D	AEFBI	0.432669	0.49445	N	-0.820946017391299	0.12775	0.6249324	-0.671311573533882	0.17679	0.9411531	0.99983325624282	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.1	2.78	0.31702	2.738000	0.47075	6.882000	0.56816	0.691000	0.84096	0.992000	0.37556	1.000000	0.68203	0.167000	0.20881	0.8531:0.0:0.1469:0.0	9.202	0.36424	964	0.07719	SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1906.33	34	chr9	90845581	.	A	G	1906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.588;DP=753;ExcessHet=0;FS=7.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.29;SOR=0.364	GT:AD:DP:GQ:PL	0/1:58,75:133:99:1920,0,1464	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:193,127:326:99:604,0,3384	1	0	18	0
chr9	93185372	93185372	C	G	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_001282394:exon1:c.C443G:p.A148G,WNK2:NM_006648:exon1:c.C443G:p.A148G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0763283002347	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330733844	7.013e-07	6.84e-07	0	1.416e-06	2.533e-05	0	0	.	.	0	2.533e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.59928	T	0.367	0.34359	T	0.003	0.12996	B	0.003	0.11217	B	0.493850	0.12027	N	0.721535	0.999941	0.30782	N	1.52	0.38360	L	-0.64	0.72125	T	-1.5	0.36586	N	0.064	0.03613	-0.9721	0.36755	T	0.055	0.23262	T	10	0.100353986	0.18270	T	0.076328	0.72505	D	0.078	0.22779	0.084	0.00795	0.128874641272	0.12493	0.42491606485639444	0.42408	1.43513484205	0.85872	0.743680596352	0.73514	T	0.122633	0.44644	T	-0.1859	0.22861	T	-0.397152	0.33716	T	0.0474260047921173	0.05040	T	0.666133	0.27528	T	0.102984466	0.24339	0.08147482	0.18518	0.102984466	0.24339	0.08147482	0.18518	-4.068	0.24817	T	.	.	0.08	0.24666	B	.;.;.	.;.;.	1.318530	0.17221	13.03	0.9390824057032584	0.23942	0.14653	0.18516	N	AEFDBI	0.177327	0.30456	N	-0.806901084898459	0.13134	0.6448777	-0.960357608392025	0.10683	0.5396469	0.999972053018011	0.50053	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	4.14	-2.6	0.05830	0.007000	0.13074	1.671000	0.27955	0.526000	0.24426	0.014000	0.18986	0.978000	0.30204	0.020000	0.11549	0.3085:0.2759:0.3382:0.0775	3.772	0.08165	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	567.33	27	chr9	93185372	.	C	G	567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.995;DP=664;ExcessHet=0;FS=2.424;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=0.015;SOR=0.368	GT:AD:DP:GQ:PL	0/1:35,26:61:99:581,0,955	18	0	1	0
chr9	110304513	110304513	A	T	exonic	TXNDC8	.	nonsynonymous SNV	TXNDC8:NM_001286946:exon4:c.T215A:p.I72N,TXNDC8:NM_001003936:exon5:c.T275A:p.I92N	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0176428207376	0.0002	0.00159744	0.0010	0.0006	8.66e-05	0	0	4.501e-05	0.0011	0.0066	0.0008667	134	154602	rs201086735	0.0004	0.0004	0.0003	0.0005	0.0058	0.0004	0.0004	0.0054	0.0052	0.0006	0	0	0	0	0.0009	2.704e-05	0.0003	0.0058	0.0003	0.0003	0.0003	0.0004	0.0043	0.0003	0.0002	0.0029	0.0024	0.0007	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0043	0.003	0.78490	D	0.005	0.79402	D	0.852	0.49185	P	0.287	0.43339	B	0.418124	0.04631	N	1.430160	0.997509	0.22632	N	0.49	0.13296	N	2.09	0.36872	T	-0.8	0.61284	N	0.58	0.60495	-1.0039	0.28785	T	0.077	0.30951	T	10	0.008545071	0.00194	T	0.017643	0.39418	T	0.143	0.38195	.	.	0.0675242888579	0.06100	0.22129866473571058	0.22045	0.0606543774704	0.06746	0.475917756557	0.35495	T	0.007764	0.07145	T	-0.491642	0.00637	T	-0.476513	0.24819	T	0.0704174155153412	0.08709	T	0.667233	0.27634	T	0.27510402	0.50575	0.25691822	0.51399	0.27510402	0.50575	0.25691822	0.51398	-3.816	0.21044	T	.	.	0.23	0.54375	B	.;.;.	.;.;.	3.935700	0.57556	23.9	0.98651916279799301	0.44206	0.86489	0.45780	D	AEFBI	0.181384	0.30870	N	0.147473750714344	0.48694	3.078442	0.20149255002838	0.49929	3.190546	0.998195861120087	0.36560	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	4.25	0.49658	3.716000	0.54633	10.587000	0.83459	0.674000	0.70861	0.989000	0.36753	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	9.921	0.40633	955	0.09969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1696.33	36	chr9	110304513	.	A	T	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.948;DP=751;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.893;SOR=1.015	GT:AD:DP:GQ:PL	0/1:59,64:124:99:1710,0,1458	18	0	1	0
chr9	114093239	114093239	-	GGTGCTCCCCTGGCAGGC	exonic	KIF12	.	nonframeshift insertion	KIF12:NM_138424:exon13:c.1171_1172insGCCTGCCAGGGGAGCACC:p.H390_H391insRLPGEH	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448413860	4.856e-05	4.652e-05	4.228e-05	5.5e-05	0.0004	3.891e-05	3.561e-05	0.0002	0.0001	0	0	0.0001	2.777e-05	0	0.0004	3.614e-05	5.167e-05	0.0003	6.579e-06	6.569e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	588.29	34	chr9	114093239	.	T	TGGTGCTCCCCTGGCAGGC	588.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.552;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.29;ReadPosRankSum=-0.285;SOR=0.639	GT:AD:DP:GQ:PL	0/1:13,16:29:99:602,0,494	18	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,44:193:99:.:.:364,0,3035:.	4	0	13	2
chr9	120419854	120419856	AGA	-	exonic	CDK5RAP2	.	nonframeshift deletion	CDK5RAP2:NM_001272039:exon24:c.3419_3421del:p.F1140del,CDK5RAP2:NM_001011649:exon27:c.4109_4111del:p.F1370del,CDK5RAP2:NM_018249:exon27:c.4109_4111del:p.F1370del	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1218266553	4.789e-06	5.472e-06	4.085e-06	5.501e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0	2.699e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2493.29	34	chr9	120419853	.	GAGA	G	2493.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.193;DP=746;ExcessHet=0;FS=3.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.87;ReadPosRankSum=0.733;SOR=0.592	GT:AD:DP:GQ:PL	0/1:46,63:109:99:2507,0,1721	18	0	1	0
chr9	121135981	121135981	A	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon4:c.A545G:p.Q182R,CNTRL:NM_001369892:exon4:c.A545G:p.Q182R,CNTRL:NM_001369893:exon14:c.A2201G:p.Q734R,CNTRL:NM_001369895:exon14:c.A1700G:p.Q567R,CNTRL:NM_001369894:exon15:c.A2258G:p.Q753R,CNTRL:NM_007018:exon15:c.A2201G:p.Q734R	.	435	1085	2	0	0	2	0.00092081	0.8508	0.506	.	723303	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0051	0.00419329	0.0016	0.0173	0.0005	0	0	1.632e-05	0	0.0001	0.0014036	217	154602	rs79192016	0.0005	0.0005	0.0005	0.0005	0.0180	0.0005	0.0005	0.0168	0.0163	0.0180	0.0005	0	0	1.882e-05	0.0011	2.003e-05	0.0011	5.89e-05	0.0050	0.0050	0.0051	0.0049	0.0177	0.0047	0.0046	0.0166	0.0162	0.0177	0	0.0012	0	0	0	0	5.879e-05	0.0019	0.0004	0.07	0.35349	T	0.232	0.24987	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	0.541466	0.40381	D	1.43	0.35840	L	0.73	0.50721	T	-1.21	0.30762	N	0.358	0.41754	-0.8647	0.50922	T	0.067	0.27468	T	9	0.0059109926	0.00132	T	.	.	.	0.057	0.16321	.	.	0.422404719673	0.41854	0.21623464223251823	0.21539	0.051183944108	0.05630	0.321005940437	0.13574	T	0.019865	0.18476	T	-0.533845	0.00365	T	-0.525328	0.19757	T	0.0178003340410839	0.00509	T	0.680532	0.28956	T	0.095413566	0.22454	0.1701585	0.39104	0.095413566	0.22454	0.1701585	0.39104	-4.606	0.32247	T	.	.	0.097	0.15654	B	.;.;.;.	.;.;.;.	3.180395	0.43165	21.7	0.98337243197095048	0.40408	0.96162	0.67817	D	AEFBI	0.613011	0.60086	D	0.0232637612105488	0.42914	2.594771	0.161882407157873	0.47773	3.002692	0.999999985295165	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.675528	0.61593	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	5.216000	0.65079	6.198000	0.54856	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	1.0:0.0:0.0:0.0	15.302	0.73659	919	0.19497	.;.;.;.	.	.	.	.	.	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	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2353.33	33	chr9	121135981	.	A	G	2353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.802;DP=791;ExcessHet=0;FS=4.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=0.588;SOR=1.109	GT:AD:DP:GQ:PL	0/1:61,93:154:99:2367,0,1517	18	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,21:92:99:.:.:510,0,1664:.	5	0	12	2
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	1826.47	51	chr9	127707149	.	T	C	1826.47	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.879;DP=1323;ExcessHet=2.9153;FS=164.549;InbreedingCoeff=-0.2807;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.37;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,33:92:99:.:.:630,0,1623:.	10	0	7	2
chr9	129001659	129001659	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon35:c.G3974A:p.R1325H	.	418	1100	4	0	0	4	0.00181488	.	.	.	711780	not_provided|NUP188-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.309	.	0.0051	0.00179712	0.0045	0.0014	0.0013	0	0.0122	0.0057	0.0034	0.0034	0.0046442	718	154602	rs41316500	0.0061	0.0061	0.0062	0.0060	0.0069	0.0060	0.0060	0.0068	0.0067	0.0013	0.0016	0.0013	2.519e-05	0.0096	0.0019	0.0069	0.0044	0.0038	0.0046	0.0046	0.0046	0.0047	0.0065	0.0043	0.0042	0.0060	0.0058	0.0016	0.0055	0.0009	0.0017	0.0004	0.0135	0	0.0065	0.0028	0.0048	0.009	0.57480	D	0.023	0.57104	D	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.35	0.34648	T	-0.99	0.26200	N	0.88	0.87808	-0.7065	0.60125	T	0.177	0.52256	T	10	0.007984251	0.00181	T	.	.	.	0.309	0.63055	.	.	0.426936546926	0.42313	0.2771650111174938	0.27629	0.813143834965	0.66826	0.701034903526	0.67292	T	0.032328	0.22440	T	-0.129178	0.31630	T	0.0496304	0.73558	D	0.0421556559281792	0.04083	T	0.969903	0.89155	D	0.23650822	0.46502	0.16948289	0.38985	0.23650822	0.46502	0.16948289	0.38984	-4.865	0.35339	T	.	.	0.139	0.30397	B	.	.	5.370564	0.90040	31	0.99934050435279365	0.99535	0.96259	0.68271	D	AEFDGBCI	0.897738	0.84025	D	0.815932915016916	0.87093	9.100277	0.806446553405469	0.90237	10.31723	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	9.591000	0.97403	11.910000	0.99563	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.142	0.89573	917	0.20147	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1185.33	33	chr9	129001659	.	G	A	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.334;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.784;SOR=0.727	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1199,0,1038	18	0	1	0
chr9	131036221	131036221	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon4:c.G865A:p.A289T	Cortical malformations, occipital, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1379605	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.0357390247978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.132	0.34477	T	0.061	0.23190	B	0.044	0.24394	B	0.089622	0.20417	N	0.503266	0.991454	0.41392	D	-0.32	0.03561	N	-0.01	0.62762	T	-0.73	0.20576	N	0.162	0.17002	-0.9672	0.37774	T	0.133	0.44622	T	10	0.30015403	0.47563	T	0.035739	0.56540	D	0.097	0.27909	0.56	0.67958	0.53104733087	0.52752	0.4255973454733632	0.42476	0.296881417285	0.32077	0.326206892729	0.14360	T	0.026624	0.19664	T	-0.156761	0.27259	T	-0.462953	0.26277	T	0.833441436290741	0.48800	D	0.833717	0.50261	T	0.12129538	0.28525	0.11321184	0.27320	0.12129538	0.28525	0.11321184	0.27319	-4.157	0.26126	T	.	.	0.075	0.05579	B	.	.	2.950106	0.39253	20.9	0.99684218006285552	0.79440	0.94162	0.60300	D	AEFDBCI	0.656977	0.62877	D	-0.293350440703879	0.29405	1.630303	-0.118681010515612	0.34636	1.994673	0.999999999925785	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.06	5.06	0.67838	3.942000	0.56324	5.641000	0.49149	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.211000	0.22211	0.0:0.0:1.0:0.0	17.393	0.87328	429	0.80881	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2388.33	151	chr9	131036221	.	G	A	2388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.869;DP=1499;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=0.531;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,65:140:99:0|1:131036211_A_G:2402,0,2866:131036211	18	0	1	0
chr9	133568440	133568440	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon14:c.G2042A:p.R681Q,ADAMTSL2:NM_014694:exon14:c.G2042A:p.R681Q	Geleophysic dysplasia 1, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	317572	Geleophysic_dysplasia_1|not_specified	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0677937102145	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs553955759	0.0026	0.0026	0.0021	0.0030	0.0155	0.0025	0.0025	0.0148	0.0145	0.0003	0.0018	0.0059	0	0.0005	0.0139	0.0017	0.0034	0.0155	0.0019	0.0019	0.0018	0.0021	0.0157	0.0017	0.0017	0.0129	0.0118	0.0003	0.0154	0.0016	0.0049	0	0.0004	0.0068	0.0020	0.0033	0.0157	0.656	0.04757	T	0.173	0.30926	T	0.153	0.28093	B	0.046	0.24676	B	0.056906	0.22522	U	0.383809	0.791671	0.34394	D	-0.315	0.03579	N	0.18	0.60361	T	0.06	0.07444	N	0.253	0.30574	-1.0182	0.24301	T	0.071	0.28839	T	10	0.015201479	0.00319	T	0.067794	0.70268	D	0.115	0.32236	0.458	0.52427	0.524114710501	0.52058	0.24345535029889892	0.24259	0.615439663432	0.56025	0.431416332722	0.29402	T	0.010579	0.09538	T	-0.151241	0.28116	T	-0.455024	0.27144	T	0.846595525741577	0.49875	D	0.939106	0.77081	D	0.046599776	0.07827	0.04282447	0.05189	0.046599776	0.07827	0.04282447	0.05189	-7.067	0.54522	T	.	.	0.070	0.05535	B	.;.;.	.;.;.	4.219439	0.63804	24.6	0.98661567374471526	0.44345	0.70643	0.34675	D	AEFBI	0.216493	0.34173	N	-0.384201033348936	0.26032	1.417627	-0.30350875060374	0.27986	1.556885	0.00216984613625388	0.09203	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.25	2.33	0.27981	4.335000	0.59081	5.393000	0.48489	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2674:0.0:0.7326:0.0	5.737	0.17339	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2101.33	35	chr9	133568440	.	G	A	2101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.162;DP=970;ExcessHet=0;FS=3.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.587;SOR=0.966	GT:AD:DP:GQ:PL	0/1:82,87:169:99:2115,0,1924	18	0	1	0
chr9	134817038	134817038	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon53:c.C4135T:p.P1379S,COL5A1:NM_001278074:exon53:c.C4135T:p.P1379S	Ehlers-Danlos syndrome, classic type, Autosomal dominant	0	1464	57	1	0	59	0.0197523	.	.	.	140593	Ehlers-Danlos_syndrome,_classic_type,_1|not_specified|Ehlers-Danlos_syndrome_type_7A|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|not_provided|Fibromuscular_dysplasia,_multifocal	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:CN169374|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.658	.	0.0073	0.00399361	0.0074	0.0010	0.0054	0	0.0060	0.0098	0.0099	0.0077	0.0072379	1119	154602	rs61739195	0.0079	0.0079	0.0077	0.0080	0.0295	0.0077	0.0077	0.0259	0.0245	0.0013	0.0050	0.0245	2.519e-05	0.0062	0.0295	0.0080	0.0079	0.0075	0.0060	0.0060	0.0063	0.0058	0.0088	0.0057	0.0056	0.0082	0.0080	0.0011	0	0.0037	0.0219	0	0.0069	0.0238	0.0088	0.0147	0.0062	0.006	0.61437	D	0.012	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	U	0.000000	1	0.81001	D	1.62	0.41497	L	-5.05	0.98611	D	-4.66	0.79482	D	0.577	0.61426	0.942	0.96269	D	0.939	0.97982	D	10	0.012166917	0.00262	T	.	.	.	0.658	0.87184	.	.	0.85845530583	0.85709	0.29242503868214725	0.29155	0.298742333184	0.32256	0.726237535477	0.70958	T	0.679392	0.90569	D	-0.207987	0.19665	T	-0.0598591	0.66342	T	0.0126543567457654	0.00212	T	0.892211	0.62852	D	0.37683263	0.59087	0.33475214	0.59297	0.38305777	0.59537	0.33015355	0.58887	-6.121	0.47281	T	0.6115994363276362	0.67924	0.556	0.67026	A	.;.	.;.	4.163591	0.62549	24.5	0.9968018547958577	0.79174	0.98929	0.88765	D	AEFBI	0.759279	0.69766	D	0.666279241900824	0.77424	6.672384	0.641604356597949	0.77986	6.786372	0.999999999999493	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	4.850000	0.62587	4.778000	0.44817	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	16.795	0.85462	827	0.39843	.;.	.	.	.	.	.	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	0.021652	0.000000	0.023098	0.032164	0.000000	0.034483	0.030488	0.007576	0.02632	1568.33	98	chr9	134817038	.	C	T	1568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=1421;ExcessHet=0;FS=4.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.5;SOR=0.419	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1582,0,1838	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:97,43:140:99:304,0,1707	2	0	17	0
chr10	24533161	24533161	C	T	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon11:c.C2387T:p.P796L,KIAA1217:NM_001282770:exon11:c.C2387T:p.P796L,KIAA1217:NM_001321681:exon12:c.C2489T:p.P830L,KIAA1217:NM_001282767:exon15:c.C3230T:p.P1077L,KIAA1217:NM_001282768:exon15:c.C3233T:p.P1078L,KIAA1217:NM_019590:exon16:c.C3338T:p.P1113L,KIAA1217:NM_001098500:exon17:c.C3098T:p.P1033L	.	424	1092	6	0	0	6	0.00273973	.	.	.	712303	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.204	.	7.7e-05	0.014377	0.0065	0.0002	8.643e-05	0.0001	0.0002	1.501e-05	0.0066	0.0469	0.0056791	878	154602	rs374052578	0.0026	0.0026	0.0015	0.0037	0.0418	0.0026	0.0025	0.0407	0.0402	0.0001	2.237e-05	3.826e-05	0.0002	0	0.0027	2.518e-05	0.0029	0.0418	0.0014	0.0014	0.0008	0.0019	0.0421	0.0012	0.0012	0.0374	0.0356	4.813e-05	0	6.542e-05	0	0.0002	0	0	0	0.0005	0.0421	0.001	0.78490	D	0.014	0.74150	D	0.985	0.90584	D	0.535	0.92359	P	0.000168	0.48594	D	0.183352	0.999998	0.58761	D	3.225	0.89467	M	0.37	0.57729	T	-4.45	0.77717	D	0.25	0.29659	-0.3542	0.73432	T	0.344	0.70956	T	10	0.003152907	0.00053	T	.	.	.	0.204	0.49076	.	.	0.733941746038	0.73157	0.31898618305290777	0.31811	0.453264928441	0.45020	0.383235931396	0.22715	T	0.622218	0.88174	D	-0.199018	0.20947	T	-0.0257958	0.68647	D	0.207521250215213	0.20823	T	0.920508	0.71260	D	0.20416829	0.42518	0.2791307	0.53879	0.20416829	0.42518	0.2791307	0.53878	-7.646	0.65491	D	.	.	0.068	0.05756	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.533528	0.49592	22.8	0.99885938527651286	0.96126	0.82877	0.42047	D	AEFDBI	0.377119	0.46101	N	0.23706804721704	0.53002	3.471266	0.213978792614642	0.50622	3.252374	0.999999719723584	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	3.343000	0.51884	3.747000	0.39671	0.599000	0.40250	0.939000	0.32602	0.997000	0.33255	0.402000	0.26827	0.0:1.0:0.0:0.0	15.248	0.73212	936	0.14734	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002525	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022901	0.02632	1255.33	33	chr10	24533161	.	C	T	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.92;DP=719;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.851;SOR=0.502	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1269,0,902	18	0	1	0
chr10	26193228	26193228	A	G	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon32:c.A4462G:p.K1488E	Deafness, autosomal recessive 30, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	54980	not_specified|MYO3A-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_30	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011774,MedGen:C1846784,OMIM:607101,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.330	.	0.0002	0.0091853	0.0038	0.0004	0.0005	0.0468	0	0.0001	0.0078	0.0022	0.0035769	553	154602	rs34204285	0.0014	0.0014	0.0014	0.0014	0.0371	0.0013	0.0013	0.0355	0.0349	0.0001	0.0005	0.0004	0.0371	3.744e-05	0.0009	0.0001	0.0035	0.0020	0.0019	0.0019	0.0015	0.0022	0.0443	0.0017	0.0016	0.0396	0.0378	0.0002	0	0.0003	0.0006	0.0443	0	0	0.0002	0.0024	0.0040	0.016	0.51853	D	0.642	0.06925	T	0.172	0.28767	B	0.039	0.23607	B	0.001712	0.38216	N	0.205205	1	0.81001	D	2.3	0.65703	M	-1.24	0.78967	T	-0.7	0.19933	N	0.427	0.46649	-0.6949	0.60680	T	0.113	0.40238	T	10	0.0026059747	0.00040	T	.	.	.	0.330	0.65226	.	.	0.724707331122	0.72227	0.2257854881004078	0.22493	0.135218752147	0.15242	0.435636490583	0.29980	T	0.078743	0.35965	T	-0.343265	0.05165	T	-0.228608	0.51907	T	0.0235568176883694	0.01090	T	0.690631	0.30012	T	0.1803263	0.39148	0.20350984	0.44430	0.18216106	0.39422	0.24180095	0.49584	-3.354	0.14444	T	.	.	0.104	0.18950	B	.;.	.;.	3.350417	0.46210	22.3	0.99669763922141774	0.78523	0.92801	0.56579	D	AEI	0.372875	0.45835	N	0.0820892895582391	0.45629	2.816178	0.240005398609992	0.52082	3.385608	0.00328900672472646	0.10034	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	3.729000	0.54724	9.245000	0.79449	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.994000	0.71098	0.8461:0.1539:0.0:0.0	11.130	0.47566	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	2461.83	33	chr10	26193228	.	A	G	2461.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.722;DP=755;ExcessHet=0.119;FS=1.243;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.06;SOR=0.596	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1345,0,1027	17	0	2	0
chr10	37189507	37189507	C	A	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon25:c.C2294A:p.P765H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00144707358205	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs780177457	2.888e-06	6.189e-06	5.757e-06	0	0.0010	6.8e-07	4.6e-07	0.0003	0.0002	0	0	0	0	0	0.0010	0	0	0	0	2.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.065	0.79402	T	0.997	0.70673	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	0.805	0.20218	L	3.3	0.06368	T	-1.92	0.44657	N	0.086	0.08646	-1.0119	0.26322	T	0.029	0.12278	T	9	0.11866805	0.22439	T	0.001447	0.02189	T	0.027	0.05988	0.154	0.05752	0.454798141022	0.45104	5.6853715781768E-4	0.00051	0.0647928516065	0.07235	0.731734871864	0.71759	T	0.003957	0.14006	T	-0.312038	0.07571	T	-0.685998	0.06623	T	0.209221379179701	0.20912	T	0.361264	0.08331	T	0.03650985	0.04506	0.05164646	0.08354	0.03650985	0.04506	0.05164646	0.08353	-10.002	0.73925	D	.	.	0.182	0.50054	B	.;.;.;.	.;.;.;.	1.592681	0.20368	14.72	0.68281592003848435	0.08610	0.00361	0.01848	N	AEFI	0.024448	0.01516	N	-0.465869358391455	0.23206	1.244509	-0.753685451019199	0.15632	0.8230897	1.59072423187973E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.746	0.746	0.17514	-0.167000	0.09928	-0.078000	0.12213	-0.479000	0.05073	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	4.837	0.12831	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	.	.	.	.	.	.	.	.	0.02632	385.33	33	chr10	37189507	.	C	A	385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=644;ExcessHet=0;FS=1.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.78;MQRankSum=0.295;QD=10.41;ReadPosRankSum=-0.547;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,18:37:99:0|1:37189507_C_A:399,0,415:37189507	18	0	1	0
chr10	48897552	48897552	G	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon45:c.G7415A:p.R2472Q	.	422	1076	22	2	0	26	0.0119376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0055	0.00559105	0.0042	0.0123	0.0025	0	0	0.0063	0	0.0010	0.0014683	227	154602	rs114867285	0.0028	0.0027	0.0028	0.0028	0.0346	0.0028	0.0027	0.0306	0.0291	0.0130	0.0080	0.0156	2.798e-05	2.144e-05	0.0346	0.0021	0.0060	0.0014	0.0063	0.0063	0.0058	0.0069	0.0133	0.0060	0.0059	0.0118	0.0113	0.0112	0	0.0133	0.0219	0	9.411e-05	0.0238	0.0027	0.0128	0.0010	0.017	0.51248	D	0.044	0.49663	D	0.568	0.38507	P	0.14	0.33554	B	0.015957	0.28108	N	0.334787	1	0.81001	D	2.045	0.56016	M	0.51	0.55439	T	-1.21	0.30762	N	0.208	0.23125	-1.0999	0.04103	T	0.065	0.26948	T	9	0.0048389435	0.00103	T	.	.	.	0.039	0.10176	.	.	0.238705975628	0.23479	0.33144262079531417	0.33057	.	.	0.25613796711	0.04442	T	0.01525	0.12830	T	-0.453173	0.01082	T	-0.412052	0.31988	T	0.00713104304871222	0.00081	T	0.713829	0.32570	T	0.04787079	0.08254	0.047829837	0.06976	0.04787079	0.08254	0.047829837	0.06976	-4.93	0.36071	T	.	.	0.080	0.07841	B	.	.	2.366957	0.30367	18.41	0.99650189834707581	0.77254	0.15140	0.18764	N	AEFDBCI	0.085209	0.17273	N	-0.462221795726552	0.23326	1.25191	-0.431818342241869	0.24068	1.315994	0.601135840412487	0.21727	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	2.06	0.25932	0.378000	0.20298	1.918000	0.29691	-0.106000	0.15538	0.170000	0.23934	0.999000	0.35428	0.835000	0.39381	0.4047:0.0:0.5953:0.0	5.360	0.15385	970	0.06235	PH-BEACH domain|PH-BEACH 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	0.042857	0.068421	0.028571	0.065789	0.000000	0.000000	0.000000	0.023810	0.02632	1409.33	34	chr10	48897552	.	G	A	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=746;ExcessHet=0;FS=0.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=1.61;SOR=0.596	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1423,0,1010	18	0	1	0
chr10	71293859	71293859	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon12:c.G2068A:p.A690T,UNC5B:NM_170744:exon13:c.G2101A:p.A701T	.	.	.	.	.	.	.	.	.	.	.	3632858	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.0251754115069	.	0.000199681	0.0004	0.0001	0.0016	0	0	0	0	0.0013	0.0002458	38	154602	rs551142023	0.0001	0.0001	9.153e-05	0.0001	0.0012	0.0001	9.868e-05	0.0010	0.0010	5.98e-05	0.0010	0	0.0002	2.037e-05	0	2.699e-06	0.0001	0.0012	8.543e-05	8.532e-05	7.715e-05	9.408e-05	0.0005	4.958e-05	3.963e-05	0.0002	0.0002	9.638e-05	0	0.0005	0	0	0	0	0	0	0.0004	0.01	0.57480	D	0.006	0.70582	D	0.063	0.25941	B	0.006	0.17295	B	0.000245	0.46924	D	0.140372	1	0.81001	D	2.81	0.81869	M	0.61	0.54540	T	-2.86	0.60188	D	0.859	0.85554	-0.7319	0.58867	T	0.194	0.54696	T	10	0.6594562	0.70067	D	0.025175	0.48158	D	0.360	0.68052	0.885	0.97081	0.746007415816	0.74372	0.6578995074183599	0.65726	0.144424200517	0.16313	0.521995782852	0.41907	T	0.586171	0.86524	D	-0.256353	0.13331	T	-0.186562	0.55911	T	0.26412600138351	0.23495	T	0.79922	0.44465	T	0.2187747	0.44393	0.21602081	0.46214	0.2187747	0.44393	0.21602081	0.46213	-8.419	0.64164	D	.	.	0.495	0.64357	A	.;.	.;.	4.251320	0.64538	24.7	0.99854157828623635	0.93279	0.94596	0.61682	D	AEFDBCI	0.900502	0.84610	D	0.250263744470335	0.53650	3.533143	0.372458712771244	0.59871	4.168898	0.999999999999983	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.76	4.76	0.60189	10.003000	0.99689	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.674000	0.33367	0.0:0.0:1.0:0.0	17.780	0.88433	895	0.25842	UPA 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	.	.	.	.	.	.	.	.	0.02632	1333.33	33	chr10	71293859	.	G	A	1333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=710;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=0.033;SOR=0.751	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1347,0,797	18	0	1	0
chr10	72341089	72341089	G	T	exonic	DNAJB12	.	nonsynonymous SNV	DNAJB12:NM_001002762:exon4:c.C539A:p.A180E,DNAJB12:NM_001365080:exon4:c.C539A:p.A180E,DNAJB12:NM_001365081:exon4:c.C539A:p.A180E,DNAJB12:NM_017626:exon4:c.C539A:p.A180E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0341568613732	.	.	8.262e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs143893741	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.798	0.03134	T	0.323	0.20100	T	0.765	0.43734	P	0.149	0.34106	B	0.006315	0.32122	N	0.266466	0.879932	0.35730	D	1.04	0.26193	L	-0.21	0.66294	T	-0.55	0.16799	N	0.377	0.44474	-0.6491	0.62753	T	0.216	0.57810	T	10	0.1908288	0.34742	T	0.034157	0.55484	D	0.113	0.31778	0.287	0.24601	0.909612298926	0.90870	0.3560968900239404	0.35523	0.722490668574	0.62282	0.49193289876	0.37707	T	0.005899	0.14695	T	-0.0792851	0.39832	T	-0.351664	0.39015	T	0.485810935497284	0.32110	T	0.857714	0.54741	D	0.059259955	0.12024	0.14079209	0.33549	0.059259955	0.12023	0.14079209	0.33548	-5.41	0.41016	T	.	.	0.399	0.59505	A	.;.;.	.;.;.	2.688260	0.35084	19.80	0.97850419969388491	0.36392	0.94206	0.60435	D	AEFDBHCIJ	0.694188	0.65327	D	0.0630810722556381	0.44747	2.743095	0.150729594617421	0.47179	2.952157	0.999999973209282	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	5.744000	0.68300	8.659000	0.77964	-0.157000	0.11712	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.1323:0.8677:0.0	16.338	0.82906	867	0.32089	DnaJ domain;DnaJ domain;DnaJ 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	.	.	.	.	.	.	.	.	0.02632	1235.33	41	chr10	72341089	.	G	T	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=810;ExcessHet=0;FS=4.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.035;SOR=1.157	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1249,0,1300	18	0	1	0
chr10	94576686	94576686	A	G	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289073:exon9:c.A499G:p.T167A,HELLS:NM_001289067:exon10:c.A913G:p.T305A,HELLS:NM_001289068:exon10:c.A865G:p.T289A,HELLS:NM_001289069:exon10:c.A913G:p.T305A,HELLS:NM_001289070:exon10:c.A913G:p.T305A,HELLS:NM_001289072:exon10:c.A913G:p.T305A,HELLS:NM_018063:exon10:c.A913G:p.T305A,HELLS:NM_001289071:exon11:c.A541G:p.T181A	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	452	1056	14	0	0	14	0.00658514	.	.	.	752336	Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4|HELLS-related_disorder|not_provided	MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.168	0.0730283883578	0.0002	.	0.0006	0	0.0004	0	0	0.0006	0.0011	0.0022	0.000511	79	154602	rs200482346	0.0004	0.0004	0.0003	0.0005	0.0038	0.0003	0.0003	0.0028	0.0027	0	0.0002	0.0020	0	0	0.0038	0.0001	0.0005	0.0031	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	4.812e-05	0	6.539e-05	0.0017	0	0	0.0034	0.0002	0.0005	0.0037	0.201	0.42487	T	0.292	0.25061	T	0.0	0.11197	B	0.004	0.10090	B	0.054652	0.22707	N	0.505809	1	0.81001	D	0.425	0.12573	N	-3.19	0.93170	D	-2.32	0.51478	N	0.087	0.08925	-0.1907	0.77910	T	0.604	0.85928	D	10	0.0170556	0.00362	T	0.073028	0.71685	D	0.168	0.42943	.	.	0.681506863636	0.67879	0.3712274698646387	0.37036	0.636122681632	0.57407	0.325754880905	0.14292	T	0.495773	0.92041	T	-0.390644	0.02664	T	-0.338525	0.40512	T	0.0119638062532283	0.00188	T	0.835416	0.50550	T	0.03720082	0.04723	0.07002862	0.14827	0.040155202	0.05680	0.05558333	0.09775	-5.179	0.38728	T	.	.	0.072	0.27821	B	.;.;.;.;.	.;.;.;.;.	1.849838	0.23498	16.04	0.96561619739867388	0.30261	0.23141	0.21979	N	AEFBCI	0.065498	0.12778	N	-0.551460998804747	0.20438	1.077405	-0.456556647763463	0.23363	1.273679	1.05620275344309E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.91	2.16	0.26663	0.907000	0.28154	4.591000	0.43958	0.756000	0.94297	0.040000	0.20979	1.000000	0.68203	0.995000	0.73285	0.7358:0.0:0.2642:0.0	7.595	0.27209	583	0.69484	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006048	0.000000	0.004076	0.020468	0.000000	0.008621	0.003067	0.000000	0.05263	2639.81	34	chr10	94576686	.	A	G	2639.81	.	AC=2;AF=0.053;AN=38;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30;SOR=1.455	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2667,264,0	18	1	0	0
chr10	95938628	95938628	T	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon8:c.T595C:p.F199L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.77e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003698	0.34611	N	0.280867	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0413	0.16921	T	0.063	0.26244	T	6	0.15913004	0.29907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488951	0.15001	T	0.07450228	0.16722	0.09835596	0.23446	0.07450228	0.16722	0.09835596	0.23445	.	.	.	.	.	0.805	0.77499	P	.;.	.;.	1.050048	0.14311	10.89	0.86527769880785077	0.16596	0.54081	0.29528	D	AEFBI	.	.	.	-0.12361232976119	0.36366	2.101062	-0.0461718473644718	0.37656	2.207774	7.6425886354954E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	0.252671	0.32781	5.86	3.53	0.39533	0.459000	0.21619	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1523:0.0829:0.0:0.7648	5.534	0.16289	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	337.81	149	chr10	95938628	.	T	C	337.81	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.079;DP=1474;ExcessHet=0.3672;FS=137.288;InbreedingCoeff=-0.0861;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.195;SOR=8.302	GT:AD:DP:GQ:PL	0/1:120,22:142:99:156,0,3049	16	0	3	0
chr10	97917556	97917556	C	T	exonic	CRTAC1	.	nonsynonymous SNV	CRTAC1:NM_001206528:exon5:c.G659A:p.R220Q,CRTAC1:NM_018058:exon5:c.G659A:p.R220Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00275187285865	7.7e-05	.	7.471e-05	0	8.654e-05	0	0	7.529e-05	0	0.0002	5.82e-05	9	154602	rs370424839	2.896e-05	3.215e-05	2.739e-05	3.055e-05	8.417e-05	2.168e-05	1.923e-05	3.89e-05	2.742e-05	5.997e-05	2.282e-05	0	5.086e-05	0	0	2.533e-05	3.335e-05	8.417e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.417	0.19304	T	0.023	0.25584	B	0.003	0.16862	B	0.007906	0.31126	N	0.340848	0.854634	0.28446	N	1.545	0.39105	L	1.99	0.21666	T	-0.85	0.23156	N	0.157	0.20129	-1.0532	0.13520	T	0.031	0.13330	T	10	0.05268389	0.05342	T	0.002752	0.05694	T	0.048	0.13305	.	.	0.192905019026	0.18896	0.485088489775544	0.48428	0.380978579987	0.39459	0.195918902755	0.00348	T	0.023092	0.34785	T	-0.487994	0.00667	T	-0.690437	0.06364	T	0.0334691366062593	0.02549	T	0.762724	0.38847	T	0.044407852	0.07093	0.044554695	0.05798	0.044407852	0.07093	0.044554695	0.05798	-4.849	0.35157	T	.	.	0.062	0.01645	B	.;.;.;.	.;.;.;.	1.518718	0.19502	14.29	0.90153109450257962	0.19431	0.65443	0.32739	D	AEFBI	0.190954	0.31817	N	-1.00081331290421	0.08587	0.4031988	-0.847774850041918	0.13341	0.6915461	0.0233556780917306	0.13501	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.28	1.23	0.20358	0.841000	0.27267	-3.318000	0.02880	-0.987000	0.01865	0.977000	0.34929	0.000000	0.08366	0.837000	0.39485	0.0:0.7828:0.0:0.2172	12.362	0.54537	235	0.90838	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1692.33	33	chr10	97917556	.	C	T	1692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.584;DP=755;ExcessHet=0;FS=5.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.03;SOR=0.888	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1706,0,1300	18	0	1	0
chr10	99716469	99716469	G	T	exonic	COX15	.	nonsynonymous SNV	COX15:NM_001372025:exon8:c.C998A:p.S333Y	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, Autosomal recessive;Leigh syndrome due to cytochrome c oxidase deficiency, Autosomal recessive, Mitochondrial	0	1510	12	0	0	12	0.00395778	0.0005	0.062	.	140716	not_provided|Leigh_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0020	0	8.77e-05	0	0	0	0	0.0148	0.0016947	262	154602	rs542092025	0.0010	0.0010	0.0005	0.0015	0.0158	0.0009	0.0009	0.0151	0.0148	0	0	0	0	0	0.0012	9.238e-07	0.0005	0.0158	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0074	0.0066	0	0	0	0	0	0	0	0	0	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	575.33	42	chr10	99716469	.	G	T	575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.802;DP=668;ExcessHet=0;FS=13.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-0.686;SOR=0.042	GT:AD:DP:GQ:PL	0/1:17,20:37:99:589,0,557	18	0	1	0
chr10	99851561	99851561	A	C	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon32:c.A4568C:p.Q1523P	Dubin-Johnson syndrome, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	737688	Dubin-Johnson_syndrome|not_provided	MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	.	0.00359425	0.0030	0	0.0002	0	0	2.997e-05	0.0011	0.0216	0.002542	393	154602	rs533470370	0.0014	0.0014	0.0007	0.0021	0.0222	0.0013	0.0013	0.0213	0.0210	5.974e-05	0	0	0	0	0.0021	4.496e-06	0.0008	0.0222	0.0005	0.0005	0.0002	0.0008	0.0151	0.0004	0.0004	0.0123	0.0113	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0151	0.121	0.27783	T	0.25	0.23707	T	0.604	0.39417	P	0.282	0.40384	B	0.405207	0.04558	N	1.311550	1	0.08975	N	1.99	0.53851	M	-0.22	0.66474	T	-2.41	0.52938	N	0.292	0.33030	-0.9168	0.45984	T	0.225	0.58932	T	10	0.0040664375	0.00079	T	.	.	.	0.090	0.26093	0.336	0.32491	0.729524097289	0.72712	0.7723649104897908	0.77186	0.0603774692045	0.06706	0.208390027285	0.00745	T	0.262701	0.63431	T	-0.435479	0.01375	T	-0.381392	0.35558	T	0.059594044646444	0.07104	T	0.912309	0.68816	D	0.23017433	0.45767	0.22096501	0.46890	0.23626389	0.46474	0.27575898	0.53515	-9.506	0.70896	D	0.7762701313830243	0.85672	0.193	0.41310	B	.;.	.;.	1.120746	0.15063	11.56	0.70518690297122566	0.09322	0.12455	0.17279	N	AEFBI	0.528918	0.55024	D	-0.824181082495823	0.12693	0.6203885	-0.941904875007996	0.11111	0.564088	0.999757642900822	0.42595	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.68	0.943	0.18655	-0.195000	0.09546	0.118000	0.14877	-0.067000	0.16409	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.6989:0.1454:0.1557:0.0	5.859	0.17986	731	0.54177	ABC transporter-like;ABC transporter-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.02632	686.33	33	chr10	99851561	.	A	C	686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.554;DP=679;ExcessHet=0;FS=2.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-1.214;SOR=1.092	GT:AD:DP:GQ:PL	0/1:33,26:59:99:700,0,903	18	0	1	0
chr10	101817872	101817872	C	T	exonic	OGA	.	nonsynonymous SNV	OGA:NM_001142434:exon1:c.G151A:p.A51T,OGA:NM_012215:exon1:c.G151A:p.A51T	.	416	1075	28	3	0	34	0.0155678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0035	0.00199681	0.0108	0.0044	0.0179	0	0	0.0199	0.0127	0.0056	0.0035899	555	154602	rs35402016	0.0065	0.0064	0.0067	0.0063	0.0089	0.0064	0.0063	0.0069	0.0068	0.0012	0.0040	0.0200	2.769e-05	0.0003	0.0089	0.0070	0.0075	0.0041	0.0044	0.0044	0.0047	0.0042	0.0064	0.0042	0.0040	0.0059	0.0057	0.0012	0.0055	0.0063	0.0156	0	9.409e-05	0.0034	0.0064	0.0047	0.0048	0.559	0.09319	T	0.573	0.10245	T	0.0	0.07471	B	0.0	0.06944	B	0.515498	0.11799	N	0.766530	0.999804	0.20292	N	.	.	.	1.5	0.31470	T	-0.22	0.10480	N	0.283	0.33469	-1.0217	0.23162	T	0.044	0.18742	T	10	0.00470984	0.00099	T	.	.	.	0.065	0.18881	.	.	0.371018649785	0.36716	0.20201343265260446	0.20118	0.375560854822	0.39016	0.679509758949	0.64197	T	0.079695	0.36190	T	-0.53914	0.00339	T	-0.542086	0.18092	T	0.00208325122828598	0.00021	T	0.694731	0.31009	T	0.14554179	0.33358	0.08372848	0.19209	0.14554179	0.33358	0.08372848	0.19209	-5.905	0.46112	T	.	.	0.078	0.15743	B	.;.;.;.	.;.;.;.	0.957512	0.13337	9.842	0.98970685633468913	0.49520	0.02720	0.07381	N	AEFDBHCIJ	0.036472	0.04866	N	-1.00177379992207	0.08567	0.4021656	-0.963460306942825	0.10612	0.5355824	0.999999996654916	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.71	1.76	0.23776	-0.709000	0.05132	-0.578000	0.08391	0.524000	0.24156	0.005000	0.17040	0.000000	0.08366	0.133000	0.19684	0.0:0.5247:0.1481:0.3272	5.444	0.15819	499	0.76092	.;.;.;.	.	.	.	.	chr10:103577629	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010288	0.005495	0.011050	0.008876	0.050000	0.017241	0.012579	0.003906	0.05263	1523.83	35	chr10	101817872	.	C	T	1523.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.336;DP=777;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.066;SOR=0.644	GT:AD:DP:GQ:PL	0/1:31,34:65:99:786,0,799	17	0	2	0
chr10	102066172	102066172	T	G	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.T698G:p.L233R	Hermansky-Pudlak syndrome 6	0	1445	75	2	0	79	0.0266083	.	.	.	207733	not_specified|Hermansky-Pudlak_syndrome_6|not_provided	MedGen:CN169374|MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0068	0.00359425	0.0075	0.0016	0.0042	0	0.0003	0.0093	0.0124	0.0127	0.0072121	1115	154602	rs36078476	0.0083	0.0083	0.0082	0.0084	0.0182	0.0082	0.0082	0.0154	0.0143	0.0014	0.0050	0.0306	2.519e-05	0.0003	0.0182	0.0084	0.0097	0.0119	0.0062	0.0062	0.0065	0.0059	0.0147	0.0059	0.0057	0.0120	0.0109	0.0016	0.0055	0.0093	0.0259	0.0002	0.0002	0.0068	0.0080	0.0085	0.0147	0.799	0.03125	T	0.309	0.19782	T	0.0	0.02946	B	0.001	0.04355	B	0.295985	0.14683	N	0.686580	1	0.08975	N	2.3	0.65703	M	-1.05	0.76690	T	1.01	0.01387	N	0.259	0.29313	-0.9927	0.31906	T	0.163	0.49980	T	10	0.0056492984	0.00125	T	.	.	.	0.080	0.23350	.	.	0.566228512615	0.56287	0.2699281259415084	0.26905	0.699373421703	0.61030	0.295210570097	0.09689	T	0.119345	0.44081	T	-0.413859	0.01874	T	-0.356868	0.38415	T	0.00708485113408285	0.00081	T	0.511749	0.16382	T	0.059877582	0.12222	0.08159723	0.18555	0.059877582	0.12221	0.08159723	0.18554	-4.568	0.31767	T	0.055239806055071006	0.01217	0.118	0.23952	B	.	.	1.971509	0.25044	16.62	0.72400093041933844	0.09960	0.02923	0.07733	N	AEFDGBHCI	0.090656	0.18369	N	-0.900017182519168	0.10842	0.5201311	-0.815442134888358	0.14121	0.7362293	0.99999999969378	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.9	2.39	0.28492	1.501000	0.35301	4.406000	0.43264	-0.127000	0.13314	0.084000	0.22438	1.000000	0.68203	0.041000	0.14368	0.2679:0.0946:0.2798:0.3577	1.041	0.01462	527	0.73864	.	.	.	.	.	rs36078476	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012588	0.010101	0.010870	0.023392	0.050000	0.017241	0.009146	0.003788	0.05263	2852.83	35	chr10	102066172	.	T	G	2852.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.991;DP=843;ExcessHet=0.119;FS=9.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.04;SOR=0.331	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1426,0,1557	17	0	2	0
chr10	102854366	102854366	C	T	exonic	BORCS7	.	nonsynonymous SNV	BORCS7:NM_001136200:exon1:c.C80T:p.T27I,BORCS7:NM_144591:exon1:c.C80T:p.T27I	.	437	1083	2	0	0	2	0.000922509	.	.	.	3643291	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00363378386259	.	.	0.0001	0	0.0006	0	0	0.0002	0	0	7.76e-05	12	154602	rs767070482	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	9.872e-05	0.0026	0.0022	9.062e-05	0.0003	0	0	1.97e-05	0.0039	0.0001	0.0002	9.802e-05	9.865e-05	9.851e-05	0.0001	9.426e-05	0.0005	6.012e-05	4.884e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0.0032	7.349e-05	0.0010	0	0.079	0.33753	T	0.068	0.44106	T	.	.	.	.	.	.	0.028003	0.25668	U	0.356501	0.804944	0.34561	D	.	.	.	.	.	.	-0.44	0.14588	N	0.36	0.40565	-0.8704	0.50499	T	0.135	0.45010	T	9	0.13305357	0.25324	T	0.003634	0.08340	T	0.049	0.13647	.	.	0.458101713262	0.45433	0.26777269739834586	0.26690	0.184410465136	0.20741	.	.	.	.	.	.	-0.271831	0.11554	T	-0.320826	0.42484	T	0.108823487627587	0.13301	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34160	B	.;.	.;.	4.519629	0.70858	25.6	0.99453543894532748	0.65427	0.76932	0.37773	D	ALL	0.751429	0.69224	D	0.0511564538237271	0.44196	2.698053	0.254446356037167	0.52903	3.46208	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.92	5.92	0.95557	5.307000	0.65551	7.316000	0.58145	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.8062:0.1938:0.0	14.069	0.64373	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	802.33	34	chr10	102854366	.	C	T	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=696;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.249;SOR=0.446	GT:AD:DP:GQ:PL	0/1:39,33:72:99:816,0,1018	18	0	1	0
chr10	104403775	104403775	C	T	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon14:c.C2086T:p.R696C	.	431	1057	32	2	0	36	0.0167442	.	.	.	2476447	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.407	.	0.0052	0.00259585	0.0081	0.0017	0.0036	0	0.0099	0.0109	0.0157	0.0074	0.0066752	1032	154602	rs41291850	0.0061	0.0061	0.0060	0.0062	0.0224	0.0060	0.0060	0.0192	0.0180	0.0026	0.0039	0.0158	0	0.0068	0.0224	0.0062	0.0061	0.0054	0.0054	0.0054	0.0058	0.0050	0.0070	0.0051	0.0049	0.0064	0.0062	0.0017	0.0450	0.0040	0.0144	0	0.0069	0.0171	0.0070	0.0080	0.0058	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.997722	0.44134	D	.	.	.	0.68	0.51952	T	-6.04	0.89759	D	0.881	0.87917	-0.5065	0.68414	T	0.219	0.58201	T	10	0.010658532	0.00236	T	.	.	.	0.407	0.71946	.	.	0.222439326576	0.21863	0.45950999133994724	0.45868	0.321224404552	0.34324	0.757634103298	0.75578	T	0.347664	0.71576	T	-0.114791	0.33979	T	0.0680251	0.74780	D	0.0491292485206572	0.05347	T	0.963604	0.86445	D	0.65789926	0.75786	0.56642973	0.74903	0.65789926	0.75788	0.56642973	0.74904	-11.21	0.80797	D	.	.	0.201	0.42433	B	.	.	3.605372	0.50945	23.0	0.99787020084262223	0.87308	0.69200	0.34094	D	AEFBI	0.342579	0.43868	N	0.0422597570836899	0.43788	2.664864	-0.126369937867833	0.34331	1.973575	5.10848688898562E-5	0.03989	0.553676	0.25195	0	0.610034	0.51514	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	5.5	-0.567	0.11175	2.911000	0.48472	0.114000	0.14823	-0.224000	0.07868	0.989000	0.36753	0.001000	0.17328	0.927000	0.46353	0.6978:0.3022:0.0:0.0	16.178	0.81677	161	0.93754	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.020161	0.015152	0.019022	0.032164	0.000000	0.008621	0.018405	0.026515	0.02632	2522.33	36	chr10	104403775	.	C	T	2522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=880;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.736;SOR=0.652	GT:AD:DP:GQ:PL	0/1:82,93:175:99:2536,0,2134	18	0	1	0
chr10	111078748	111078748	C	G	exonic	ADRA2A	.	nonsynonymous SNV	ADRA2A:NM_000681:exon1:c.C752G:p.P251R	.	286	1217	19	0	0	19	0.00774562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.023762	0.0141	0	0.0014	0.0077	0	0	0	0.1798	0.0079947	1236	154602	rs375697365	0.0045	0.0051	0.0026	0.0065	0.0910	0.0044	0.0044	0.0890	0.0882	3.779e-05	0.0001	0	0.0034	0	0.0038	4.54e-05	0.0061	0.0910	0.0033	0.0033	0.0017	0.0050	0.0960	0.0031	0.0030	0.0888	0.0859	9.65e-05	0	0.0008	0	0.0037	0	0	2.95e-05	0.0014	0.0960	0.033	0.44358	D	0.048	0.48594	D	.	.	.	.	.	.	0.002693	0.00908	U	8.920880	1	0.08975	N	.	.	.	-0.13	0.64818	T	-1.11	0.28703	N	0.169	0.17966	-0.9753	0.36059	T	0.189	0.54019	T	10	0.0013929904	0.00015	T	.	.	.	0.109	0.30843	.	.	0.551344072312	0.54791	0.49099629110237214	0.49020	.	.	0.856488347054	0.90589	D	.	.	.	-0.512724	0.00484	T	-0.412553	0.31931	T	0.00441534719150818	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	2.724763	0.35650	19.95	0.9154680438930568	0.20824	0.07155	0.13180	N	AEFDBCI	0.086527	0.17544	N	-0.671328715862301	0.16841	0.8616187	-0.654172431740839	0.18111	0.9660849	0.995644396510623	0.34242	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.93	2.94	0.33188	2.040000	0.40824	5.248000	0.48084	0.502000	0.22824	0.098000	0.22752	0.985000	0.30750	0.622000	0.31948	0.1712:0.6819:0.1469:0.0	8.822	0.34193	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.004110	0.008982	0.000000	0.000000	0.000000	0.034091	0.02632	1195.33	35	chr10	111078748	.	C	G	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=1.78;SOR=0.666	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1209,0,1126	18	0	1	0
chr10	120354787	120354787	C	T	exonic	RPL21	.	nonsynonymous SNV	RPL21:NM_000982:exon1:c.G397A:p.A133T	Hypotrichosis 12, Autosomal dominant	206	1293	23	0	0	23	0.00881564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs878964433	0.0012	0.0043	0.0012	0.0012	0.0017	0.0011	0.0011	0.0014	0.0013	0.0017	0.0008	0.0004	0.0017	0.0012	0.0012	0.0013	0.0010	0.0008	9.556e-05	0.0010	7.986e-05	0.0001	0.0002	5.734e-05	4.626e-05	0.0001	7.438e-05	0.0002	0	6.76e-05	0	0.0002	0.0003	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	48.58	14	chr10	120354787	.	C	T	48.58	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=314;ExcessHet=0;FS=1.711;InbreedingCoeff=-0.0385;MLEAC=1;MLEAF=0.026;MQ=37.9;MQRankSum=2.35;QD=2.21;ReadPosRankSum=-0.512;SOR=0.368	GT:AD:DP:GQ:PL	0/1:18,4:22:62:62,0,455	18	0	1	0
chr10	122216732	122216732	A	G	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.A1684G:p.M562V,TACC2:NM_206860:exon5:c.A1684G:p.M562V,TACC2:NM_001291878:exon6:c.A1720G:p.M574V,TACC2:NM_001291879:exon7:c.A562G:p.M188V,TACC2:NM_206861:exon8:c.A1888G:p.M630V,TACC2:NM_001291876:exon10:c.A7315G:p.M2439V,TACC2:NM_001291877:exon10:c.A7462G:p.M2488V,TACC2:NM_206862:exon11:c.A7450G:p.M2484V	.	430	1090	2	0	0	2	0.00091659	.	.	.	2347937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00284759216417	0.0004	0.000199681	0.0001	0.0007	0.0002	0	0	8.991e-05	0	0	0.0001229	19	154602	rs150404273	0.0001	0.0001	0.0001	9.213e-05	0.0010	8.847e-05	8.333e-05	0.0005	0.0003	0.0004	0.0002	0	0	0	0.0010	8.813e-05	0.0003	0	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0004	0	0	0	0.0034	7.352e-05	0	0	0.194	0.36709	T	0.485	0.32568	T	0.025	0.19245	B	0.012	0.18140	B	0.022705	0.26581	N	0.185159	0.650194	0.32956	D	1.21	0.30464	L	3.99	0.18414	T	-1.49	0.61580	N	0.207	0.37405	-1.0534	0.13466	T	0.035	0.15247	T	10	0.04963982	0.04581	T	0.002848	0.05986	T	0.051	0.14325	.	.	0.544477446313	0.54102	0.17530261090826224	0.17449	0.123788176146	0.13936	0.458127886057	0.33053	T	0.042242	0.40566	T	-0.464178	0.00925	T	-0.540373	0.18259	T	0.0160882683915138	0.00387	T	0.858914	0.55989	D	0.051621813	0.09506	0.09755333	0.23226	0.051621813	0.09506	0.09755333	0.23225	-2.333	0.11621	T	.	.	0.064	0.02765	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.658415	0.21151	15.07	0.94650338719396443	0.25256	0.96954	0.71854	D	AEFDBI	0.686070	0.64786	D	-0.168209349623899	0.34464	1.967376	-0.0174017237604829	0.38929	2.300643	0.999974110867686	0.50053	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	3.29	0.36801	5.729000	0.68186	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.8493:0.0:0.1507:0.0	9.267	0.36810	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1525.33	33	chr10	122216732	.	A	G	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.196;DP=796;ExcessHet=0;FS=2.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.155;SOR=0.96	GT:AD:DP:GQ:PL	0/1:63,65:128:99:1539,0,1625	18	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,43:141:99:0|1:124989533_G_A:1490,0,3899:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:109,32:141:99:718,0,3651	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:131,18:149:99:120,0,3455	4	0	10	5
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	720.63	43	chr10	124989594	.	G	A	720.63	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-2.445;DP=2053;ExcessHet=2.0135;FS=10.856;InbreedingCoeff=-0.2058;MLEAC=6;MLEAF=0.167;MQ=55.3;MQRankSum=-7.601;QD=0.79;ReadPosRankSum=-3.679;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,14:163:30:.:.:30,0,6105:.	12	0	6	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,22:154:99:0|1:124994489_T_G:526,0,5417:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,30:162:99:0|1:124994489_T_G:825,0,5452:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,30:163:99:0|1:124994489_T_G:822,0,5459:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,36:172:99:0|1:124994523_G_A:1073,0,5480:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:138,37:175:99:544,0,4023	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:141,38:179:99:501,0,4135	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,38:189:99:0|1:124994577_C_A:1141,0,6108:124994577	0	0	19	0
chr10	128103278	128103278	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7482C:p.E2494D,MKI67:NM_002417:exon13:c.G8562C:p.E2854D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00226310355017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.613e-06	0.0004	1.093e-05	8.279e-06	1.174e-05	5.58e-06	4.36e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.119	0.36101	T	0.997	0.70673	D	0.939	0.67449	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.49	0.05071	T	-0.88	0.23808	N	0.094	0.16725	-1.0286	0.20908	T	0.021	0.08686	T	9	0.13874048	0.26384	T	0.002263	0.04314	T	0.115	0.32236	0.551	0.66716	0.384086055536	0.38021	0.023012059597842277	0.02253	0.253544675859	0.27924	0.240642219782	0.02849	T	0.008993	0.08212	T	-0.312787	0.07504	T	-0.687073	0.06561	T	0.265743708034814	0.23564	T	0.50475	0.15921	T	0.117704056	0.27745	0.10210266	0.24462	0.117704056	0.27744	0.10210266	0.24461	-6.721	0.51969	T	.	.	0.118	0.24260	B	.;.	.;.	0.238562	0.06189	2.640	0.97958759839123999	0.37158	0.05950	0.11907	N	AEFDGBCI	0.035951	0.04710	N	-0.653155426560856	0.17368	0.8931397	-0.910198625553295	0.11853	0.6063969	0.999999978715648	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	-4.34	0.03412	-0.632000	0.05587	-5.532000	0.01685	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2747:0.1905:0.269:0.2659	0.177	0.00111	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	387.58	157	chr10	128103278	.	C	G	387.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.684;DP=2464;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.19;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,33:161:99:0|1:128103278_C_G:294,0,4740:128103278	16	0	2	1
chr10	128103280	128103280	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7480C:p.E2494Q,MKI67:NM_002417:exon13:c.G8560C:p.E2854Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00403197585609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.485e-06	0.0003	2.729e-06	8.268e-06	7.214e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.214e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.177	0.31730	T	0.998	0.73220	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.45	0.05311	T	-0.8	0.22078	N	0.109	0.19459	-1.0547	0.13119	T	0.038	0.16505	T	9	0.17886433	0.32993	T	0.004032	0.09587	T	0.052	0.14661	0.541	0.65304	0.518970300747	0.51540	0.04773937039326191	0.04716	0.283620578612	0.30797	0.235243186355	0.02379	T	0.011953	0.10589	T	-0.3115	0.07616	T	-0.685224	0.06669	T	0.250668425890041	0.22903	T	0.577942	0.20808	T	0.13167799	0.30686	0.09273483	0.21870	0.13167799	0.30685	0.09273483	0.21869	-8.247	0.62741	D	.	.	0.149	0.33039	B	.;.	.;.	0.759877	0.11298	7.920	0.98886276083847624	0.47912	0.20083	0.20908	N	AEFDGBCI	0.033550	0.04004	N	-0.293471082601323	0.29398	1.630002	-0.540287322695226	0.21065	1.137768	0.999999740880393	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.02	0.19102	-0.203000	0.09440	-1.074000	0.06411	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1866:0.5896:0.0:0.2238	4.010	0.09108	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	389.24	157	chr10	128103280	.	C	G	389.24	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.758;DP=2441;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.16;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,33:161:99:0|1:128103278_C_G:294,0,4740:128103278	14	0	2	3
chr10	128103281	128103281	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7479C:p.E2493D,MKI67:NM_002417:exon13:c.G8559C:p.E2853D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00413029876425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.599e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.31235	T	0.445	0.13140	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	1.795	0.47270	L	3.72	0.04014	T	-0.57	0.17210	N	0.139	0.20528	-1.0070	0.27850	T	0.023	0.09832	T	9	0.17917964	0.33039	T	0.00413	0.09900	T	0.087	0.25287	0.554	0.67133	0.342168650903	0.33825	0.036519337438074756	0.03598	0.227472622474	0.25299	0.246916860342	0.03450	T	0.009336	0.08507	T	-0.289186	0.09718	T	-0.653172	0.08733	T	0.232997477054596	0.22093	T	0.413959	0.10802	T	0.062381484	0.13023	0.07715427	0.17160	0.062381484	0.13023	0.07715427	0.17160	-7.036	0.54296	T	.	.	0.173	0.37969	B	.;.	.;.	-0.254554	0.02823	0.391	0.97478973749574904	0.34178	0.08471	0.14396	N	AEFDGBCI	0.035167	0.04481	N	-0.763170779599195	0.14277	0.7099313	-1.00746602192106	0.09620	0.4796704	0.999999819180609	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	-2.02	0.06981	-1.009000	0.03770	-7.411000	0.01162	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3205:0.1775:0.502	4.172	0.09795	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	386.89	157	chr10	128103281	.	C	G	386.89	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.495;DP=2446;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.0578;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=3.08;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,33:161:99:0|1:128103278_C_G:294,0,4740:128103278	17	0	2	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1460.79	39	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	1460.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.114;DP=694;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.87;ReadPosRankSum=-0.422;SOR=0.72	GT:AD:DP:GQ:PL	0/1:18,22:40:99:719,0,633	17	0	2	0
chr10	133240280	133240280	A	G	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon3:c.A751G:p.M251V	.	421	1040	61	0	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0027	0.00559105	0.0065	0.0011	0.0042	0	0.0002	0.0053	0.0040	0.0235	0.0053298	824	154602	rs148086757	0.0049	0.0049	0.0043	0.0056	0.0441	0.0048	0.0048	0.0395	0.0378	0.0017	0.0062	0.0122	5.087e-05	0.0002	0.0441	0.0037	0.0069	0.0211	0.0049	0.0049	0.0046	0.0052	0.0150	0.0046	0.0045	0.0122	0.0112	0.0008	0.0650	0.0130	0.0161	0.0002	9.445e-05	0.0514	0.0043	0.0066	0.0150	0.006	0.61437	D	0.122	0.35710	T	0.0	0.02946	B	0.001	0.04355	B	0.176135	0.17233	U	0.369811	1	0.08975	N	0	0.06538	N	-2.59	0.89822	D	-0.17	0.09627	N	0.122	0.11340	-0.6701	0.61824	T	0.301	0.67232	T	10	0.0030415654	0.00050	T	.	.	.	0.141	0.37795	.	.	0.460085558651	0.45632	0.09206645746996407	0.09139	0.0854921300487	0.09661	0.353580713272	0.18448	T	0.001414	0.00874	T	-0.475129	0.00790	T	-0.43901	0.28920	T	0.00320643787163532	0.00034	T	0.207379	0.02472	T	0.23485649	0.46313	0.116778955	0.28192	0.23485649	0.46313	0.116778955	0.28191	-2.023	0.03269	T	.	.	0.070	0.03515	B	.	.	-0.060916	0.03882	0.846	0.44043438297786625	0.03358	0.00875	0.03461	N	AEFBI	0.026237	0.01933	N	-1.29613371137322	0.03722	0.1667575	-1.32367044325818	0.04126	0.1939608	0.315819230129744	0.19334	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	2.96	0.867	0.18222	-0.336000	0.07908	-0.342000	0.09808	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4764:0.5236:0.0:0.0	7.658	0.27555	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039859	0.071429	0.047684	0.055556	0.000000	0.017241	0.015337	0.015152	0.07895	2021.79	40	chr10	133240280	.	A	G	2021.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.584;DP=742;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.655;SOR=0.739	GT:AD:DP:GQ:PL	0/1:19,35:54:99:873,0,412	16	0	3	0
chr10	133292668	133292668	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon7:c.G655A:p.E219K,TUBGCP2:NM_006659:exon8:c.G1045A:p.E349K,TUBGCP2:NM_001256617:exon9:c.G1129A:p.E377K	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0158232675575	0.0002	0.00159744	0.0012	0	0.0099	0	0	0.0003	0	0.0004	0.0009896	153	154602	rs145003131	0.0005	0.0005	0.0005	0.0005	0.0069	0.0005	0.0005	0.0062	0.0060	0.0002	0.0069	0.0002	0	0	0.0025	0.0003	0.0006	0.0003	0.0004	0.0004	0.0004	0.0004	0.0024	0.0003	0.0003	0.0018	0.0016	9.62e-05	0	0.0024	0	0	0	0	0.0002	0.0019	0.0004	0.433	0.09836	T	0.804	0.06713	T	0.66	0.40908	P	0.121	0.32300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	3.15	0.07820	T	-1.1	0.28497	N	0.799	0.83371	-1.0260	0.21756	T	0.010	0.03627	T	10	0.012980908	0.00277	T	0.015823	0.36761	T	0.317	0.63904	.	.	0.347217280506	0.34334	0.41263179258684834	0.41179	0.458049767139	0.45429	0.663874387741	0.61963	T	0.06919	0.33648	T	-0.159307	0.26868	T	0.00309596	0.70537	D	0.0821259119315494	0.10257	T	0.956054	0.83312	D	0.2971975	0.52651	0.20742363	0.45001	0.2971975	0.52651	0.20742363	0.45000	-8.51	0.64495	D	.	.	0.153	0.34094	B	.;.;.;.	.;.;.;.	3.456181	0.48149	22.6	0.99798880501898068	0.88372	0.98639	0.85009	D	AEFBI	0.921501	0.89508	D	-0.144054163683146	0.35489	2.039057	-0.026318004567047	0.38530	2.271355	0.999999999999383	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.87	4.87	0.62877	7.683000	0.83394	7.558000	0.60417	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.073000	0.16832	0.0:1.0:0.0:0.0	16.976	0.86185	991	0.01385	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	950.33	35	chr10	133292668	.	C	T	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.111;SOR=0.59	GT:AD:DP:GQ:PL	0/1:37,34:71:99:964,0,915	18	0	1	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	1221.11	167	chr11	1018228	.	G	*	1221.11	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=4229;ExcessHet=6.9875;FS=13.674;InbreedingCoeff=-0.4381;MLEAC=6;MLEAF=0.188;MQ=57.03;MQRankSum=-9.096;QD=0.53;ReadPosRankSum=-1.93;SOR=2.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:219,26:250:99:.:.:423,0,9243:.	11	0	5	3
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:219,32:283:0:.:.:684,0,9099:.	5	0	14	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	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.1053	5645.41	33	chr11	1075685	.	C	T	5645.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.157;DP=891;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=0.103;SOR=0.692	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2877,278,0	16	1	2	0
chr11	1096645	1096645	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	692	825	4	1	0	6	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198884028	0.0009	0.0007	0.0005	0.0012	0.0107	0.0008	0.0008	0.0100	0.0098	7.623e-05	0.0001	0	3.448e-05	0	0.0027	0.0001	0.0007	0.0107	7.443e-05	0.0004	9.884e-05	4.983e-05	0.0025	1.973e-05	1.047e-05	0.0004	0.0002	0	0	0	0	0	0	0	5.081e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	4941.29	59	chr11	1096645	.	C	A	4941.29	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.04;DP=2139;ExcessHet=0;FS=11.144;InbreedingCoeff=0.7059;MLEAC=2;MLEAF=0.063;MQ=55.93;MQRankSum=2.02;QD=25.99;ReadPosRankSum=2.17;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,125:128:99:1|1:1096645_C_A:4966,337,0:1096645	15	1	0	3
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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	7507.2	150	chr11	1097542	.	C	T	7507.2	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.076;DP=2579;ExcessHet=0.7564;FS=13.386;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=52.08;MQRankSum=4.61;QD=15.38;ReadPosRankSum=1.06;SOR=0.257	GT:AD:DP:GQ:PL	0/1:22,152:174:99:3697,0,304	15	0	3	1
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	76561.1	246	chr11	1099370	.	G	*	76561.1	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.87;DP=5970;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=52.86;MQRankSum=-0.915;QD=21.15;ReadPosRankSum=0.851;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,177:270:99:.:.:7317,2970,3576:.	10	0	9	0
chr11	1243709	1243709	A	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A6829T:p.T2277S	.	476	1043	3	0	0	3	0.00143609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00398141172649	.	0.000998403	0.0009	0	8.643e-05	0	0	3.005e-05	0	0.0067	0.0001921	5	26028	rs566783011	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	0	0	0	2.519e-05	0	0.0021	1.259e-05	0.0004	0.0066	0.0002	0.0002	6.503e-05	0.0003	0.0062	0.0001	0.0001	0.0044	0.0038	0	0	0	0	0	0	0	0	0	0.0062	0.378	0.11262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.77	0.25841	T	-0.48	0.15379	N	0.068	0.04072	-1.0267	0.21527	T	0.054	0.22959	T	9	0.0059332848	0.00133	T	0.003981	0.09431	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.2536995402099471	0.25283	.	.	0.205650538206	0.00640	T	0.024053	0.18250	T	-0.590838	0.00166	T	-0.618306	0.11317	T	0.0148934294328664	0.00316	T	0.242476	0.03503	T	0.029871758	0.02553	0.032949828	0.02110	0.029871758	0.02553	0.032949828	0.02109	-4.04	0.24400	T	.	.	0.160	0.35393	B	.	.	0.685435	0.10542	7.250	0.90342315894487868	0.19607	0.00900	0.03527	N	AEFI	0.042798	0.06686	N	-0.808591940972911	0.13090	0.6424752	-0.9173952337723	0.11684	0.596749	1.28984583444717E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.99	1.6	0.22686	1.304000	0.33087	-3.234000	0.02948	0.528000	0.24546	0.012000	0.18695	0.000000	0.08366	0.025000	0.12405	0.8629:0.0:0.1371:0.0	7.308	0.25631	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4563.81	54	chr11	1243709	.	A	T	4563.81	.	AC=2;AF=0.053;AN=38;DP=1299;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=59.38;QD=34.84;SOR=1.371	GT:AD:DP:GQ:PL	1/1:0,131:131:99:4591,393,0	18	1	0	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,151:151:99:.:.:6273,462,0:.	8	2	9	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2105	23862.2	50	chr11	1956322	.	G	A	23862.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.91;DP=1732;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=1.84;SOR=0.676	GT:AD:DP:GQ:PL	1/1:0,191:191:99:5815,573,0	13	2	4	0
chr11	4821609	4821609	A	G	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.A188G:p.Y63C	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00422678405543	0.0012	0.00159744	0.0026	0.0006	0.0036	0	0	0.0023	0.0022	0.0070	0.0025291	391	154602	rs185898822	0.0023	0.0023	0.0020	0.0025	0.0229	0.0022	0.0022	0.0197	0.0185	0.0005	0.0041	0.0040	2.519e-05	0	0.0229	0.0018	0.0029	0.0076	0.0021	0.0021	0.0020	0.0023	0.0071	0.0020	0.0019	0.0052	0.0046	0.0005	0	0.0059	0.0035	0	0	0.0442	0.0021	0.0057	0.0071	.	.	.	.	.	.	0.013	0.16609	B	0.027	0.21085	B	0.224365	0.16063	U	0.455201	1	0.81001	D	2.045	0.56016	M	.	.	.	.	.	.	.	.	-1.0827	0.06833	T	0.021	0.09056	T	10	0.006897241	0.00157	T	0.004227	0.10216	T	0.129	0.35316	.	.	0.0297737177859	0.01360	0.27260243329221395	0.27173	0.00684574193027	0.00603	0.249014645815	0.03664	T	0.023906	0.18164	T	-0.529186	0.00388	T	-0.528491	0.19437	T	0.015908283942903	0.00376	T	0.668933	0.27772	T	0.5682851	0.70966	0.47584587	0.69627	0.5682851	0.70967	0.47584587	0.69627	-6.638	0.51342	T	.	.	0.096	0.15520	B	.;.	.;.	2.411576	0.30999	18.61	0.80908312501379798	0.13426	0.29076	0.23726	N	AEFBI	0.303737	0.41163	N	-0.795963792636158	0.13415	0.6606802	-0.803844750957531	0.14403	0.7523467	8.1743021512517E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	3.29	0.36801	1.013000	0.29540	.	.	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.493000	0.28859	0.7804:0.0:0.0831:0.1365	6.761	0.22727	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.039402	0.023392	0.000000	0.043103	0.003049	0.003788	0.05263	6873.81	33	chr11	4821609	.	A	G	6873.81	.	AC=2;AF=0.053;AN=38;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.53;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,218:218:99:6901,654,0	18	1	0	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3214	1427.75	152	chr11	5351792	.	C	G	1427.75	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-4.584;DP=3027;ExcessHet=5.3738;FS=255.187;InbreedingCoeff=-0.44;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=-0.039;SOR=11.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,27:190:54:.:.:54,0,5947:.	5	0	9	5
chr11	5489271	5489271	C	T	exonic	OR52D1	.	stopgain	OR52D1:NM_001005163:exon1:c.C565T:p.R189X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	8.646e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs768585133	1.505e-05	1.505e-05	1.225e-05	1.788e-05	0.0002	9.85e-06	8.41e-06	8.52e-06	6.89e-06	2.988e-05	4.473e-05	0	0	0	0.0002	1.439e-05	1.656e-05	1.159e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000031	0.55875	D	0.000000	0.999992	0.81001	N	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283714	0.81631	D	0.266613	0.86407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.079769	0.96116	35	0.9861822501353259	0.43731	0.21333	0.21364	N	AEFDBHCI	0.119908	0.23382	N	-0.260125866471498	0.30700	1.714349	-0.54812931909246	0.20855	1.125565	0.999995861182813	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	2.59	0.30091	-0.789000	0.04714	.	.	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.869000	0.41347	0.2397:0.5801:0.1113:0.0689	6.320	0.20421	699	0.57969	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	6687.81	218	chr11	5489271	.	C	T	6687.81	.	AC=2;AF=0.053;AN=38;DP=3220;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=36.03;SOR=1.061	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,150:150:99:1|1:5489267_T_C:6715,452,0:5489267	18	1	0	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	690.21	161	chr11	6200107	.	C	G	690.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-6.451;DP=2311;ExcessHet=4.0268;FS=110.401;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.63;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,21:174:83:.:.:83,0,5824:.	11	0	8	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,28:178:99:0|1:6200108_C_G:114,0,5807:6200108	10	0	9	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	563.21	93	chr11	6564079	.	G	C	563.21	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-2.147;DP=1498;ExcessHet=2.0135;FS=208.676;InbreedingCoeff=-0.265;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.38;SOR=11.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,15:77:29:.:.:29,0,1154:.	9	0	6	4
chr11	8715617	8715617	G	A	exonic	DENND2B	.	nonsynonymous SNV	DENND2B:NM_001376505:exon3:c.C247T:p.R83C,DENND2B:NM_001376506:exon4:c.C247T:p.R83C,DENND2B:NM_001376499:exon5:c.C1291T:p.R431C,DENND2B:NM_001376501:exon5:c.C571T:p.R191C,DENND2B:NM_001376502:exon5:c.C571T:p.R191C,DENND2B:NM_001376503:exon5:c.C571T:p.R191C,DENND2B:NM_001376498:exon6:c.C1831T:p.R611C,DENND2B:NM_213618:exon6:c.C1831T:p.R611C,DENND2B:NM_001376497:exon7:c.C1831T:p.R611C,DENND2B:NM_001376500:exon7:c.C1150T:p.R384C,DENND2B:NM_001376496:exon8:c.C1831T:p.R611C,DENND2B:NM_139157:exon8:c.C571T:p.R191C,DENND2B:NM_005418:exon9:c.C1831T:p.R611C,DENND2B:NM_001376495:exon10:c.C1831T:p.R611C	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0201142126349	.	0.000798722	0.0010	0	0	0.0001	0	1.558e-05	0	0.0076	0.0008279	128	154602	rs371806921	0.0005	0.0005	0.0002	0.0007	0.0072	0.0004	0.0004	0.0067	0.0065	0	0	0	0	0	0.0016	1.17e-05	0.0003	0.0072	0.0001	0.0001	5.138e-05	0.0002	0.0039	9.734e-05	8.25e-05	0.0026	0.0021	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0039	0.008	0.78490	D	0.081	0.92824	T	0.342	0.44460	B	0.071	0.34617	B	0.000029	0.55875	D	0.116598	0.999969	0.52935	D	2.24	0.63355	M	2.88	0.10291	T	-5.08	0.92648	D	0.626	0.67045	-1.1040	0.03640	T	0.024	0.10148	T	10	0.008537948	0.00193	T	0.020114	0.42635	T	0.155	0.40530	0.288	0.24761	0.226560886239	0.22246	0.40083440901178696	0.39998	0.760631165831	0.64247	0.761724472046	0.76186	T	0.377599	0.74075	T	-0.379451	0.03141	T	-0.314942	0.43127	T	0.226931734699564	0.21804	T	0.985101	0.96320	D	0.29980543	0.52887	0.29898483	0.55932	0.29980543	0.52887	0.29898483	0.55931	-10.328	0.76531	D	.	.	0.197	0.69971	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.804697	0.78109	26.8	0.99854037232931059	0.93279	0.86944	0.46341	D	AEFDBI	0.536166	0.55449	D	0.222428748504206	0.52287	3.403842	0.366169777968197	0.59486	4.127035	0.999999761206092	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.563494	0.21769	0	.	.	5.54	5.54	0.82907	4.448000	0.59768	11.821000	0.97240	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8142:0.1858	14.232	0.65443	504	0.75712	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.007576	0.05263	4302.81	34	chr11	8715617	.	G	A	4302.81	.	AC=2;AF=0.053;AN=38;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=36.95;SOR=0.91	GT:AD:DP:GQ:PL	1/1:0,120:120:99:4330,361,0	18	1	0	0
chr11	17578424	17578424	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon22:c.C2693T:p.T898M,OTOG:NM_001292063:exon23:c.C2657T:p.T886M	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	492270	OTOG-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_18B|not_provided	.|MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0660167127806	.	0.000399361	0.0002	0.0025	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs113688475	0.0001	0.0001	0.0001	9.923e-05	0.0033	0.0001	0.0001	0.0028	0.0026	0.0033	8.416e-05	0	0	0	0.0009	3.523e-05	0.0002	0.0001	0.0007	0.0007	0.0007	0.0007	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	2.94e-05	0.0009	0	0.118	0.28148	T	0.087	0.40909	T	.	.	.	.	.	.	0.629129	0.10704	U	0.763019	1	0.18878	N	0.345	0.11182	N	2.28	0.17271	T	-1.21	0.30762	N	0.085	0.07262	-0.9810	0.34771	T	0.025	0.10464	T	8	0.006717056	0.00152	T	0.066017	0.69750	D	0.075	0.21907	.	.	0.141422826196	0.13715	0.2662719851466724	0.26540	.	.	0.296312749386	0.09853	T	0.077149	0.35587	T	-0.703993	0.00035	T	-0.784534	0.02320	T	0.00813463920493105	0.00097	T	0.580242	0.21138	T	0.019522058	0.00484	0.03664553	0.03152	0.019522058	0.00484	0.03664553	0.03151	-5.244	0.39386	T	.	.	0.078	0.08272	B	.;.	.;.	1.399886	0.18135	13.57	0.87090808757757066	0.16982	0.10309	0.15851	N	AEFDBI	0.107189	0.21364	N	-0.838973108262176	0.12322	0.5999371	-0.855621805514375	0.13152	0.6807532	0.333081787315662	0.19505	0.487112	0.14033	0	0.59043	0.45803	0	0.507541	0.09363	1	0.564101	0.26826	0	.	.	5.79	3.94	0.44807	1.831000	0.38781	0.040000	0.13855	-0.919000	0.02208	0.003000	0.16062	0.000000	0.08366	0.053000	0.15439	0.0:0.7695:0.0:0.2305	8.481	0.32201	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	.	.	.	.	.	.	.	.	0.05263	4335.81	35	chr11	17578424	.	C	T	4335.81	.	AC=2;AF=0.053;AN=38;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.1;SOR=0.908	GT:AD:DP:GQ:PL	1/1:0,131:131:99:4363,393,0	18	1	0	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1687.47	64	chr11	33085953	.	G	A	1687.47	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-1.54;DP=1238;ExcessHet=2.1469;FS=207.137;InbreedingCoeff=-0.4074;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.53;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,14:86:99:0|1:33085952_T_C:183,0,2479:33085952	4	0	5	10
chr11	46373045	46373045	G	A	exonic	DGKZ	.	nonsynonymous SNV	DGKZ:NM_001199268:exon13:c.G1201A:p.A401T,DGKZ:NM_001199266:exon14:c.G1270A:p.A424T,DGKZ:NM_001199267:exon14:c.G1267A:p.A423T,DGKZ:NM_003646:exon14:c.G1270A:p.A424T,DGKZ:NM_201532:exon14:c.G1318A:p.A440T,DGKZ:NM_201533:exon14:c.G1282A:p.A428T,DGKZ:NM_001105540:exon15:c.G1834A:p.A612T	.	417	1102	2	1	0	4	0.00181159	.	.	.	1465488	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0224790397337	8.2e-05	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0003	7.76e-05	12	154602	rs141331800	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0003	0	0.0002	0	0	0.0004	0.0005	0.0002	0.012	0.55530	D	0.008	0.67890	D	0.485	0.36856	P	0.065	0.27321	B	0.000044	0.53742	D	0.121499	0.998673	0.81001	D	0.835	0.21042	L	2.46	0.22881	T	-0.64	0.18670	N	0.421	0.46555	-1.0228	0.22802	T	0.052	0.21960	T	10	0.119769156	0.22673	T	0.022479	0.45373	T	0.133	0.36157	.	.	0.45212351173	0.44835	0.5720260080858557	0.57130	1.0684435865	0.76718	0.514246106148	0.40817	T	0.134802	0.46626	T	-0.332113	0.05953	T	-0.422685	0.30769	T	0.0771503632933973	0.09619	T	0.968503	0.88585	D	0.085999645	0.19972	0.13140245	0.31554	0.085999645	0.19972	0.13140245	0.31553	-10.163	0.75111	D	.	.	0.090	0.20391	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.599108	0.50823	23.0	0.99475165594927251	0.66579	0.99191	0.92574	D	AEFGBI	0.798618	0.72511	D	-0.0716119576665944	0.38640	2.266305	-0.0631017123394781	0.36929	2.155502	0.999999999990962	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	8.129000	0.89477	8.517000	0.77410	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:0.0:1.0:0.0	16.996	0.86242	37	0.98026	.;.;Diacylglycerol kinase, catalytic domain;.;.;.;.;Diacylglycerol kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2474.83	43	chr11	46373045	.	G	A	2474.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=1096;ExcessHet=0.119;FS=4.121;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.72;MQRankSum=-0.189;QD=12.96;ReadPosRankSum=0.004;SOR=0.515	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1369,0,1511	17	0	2	0
chr11	47980971	47980971	C	T	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon1:c.C59T:p.A20V,PTPRJ:NM_002843:exon1:c.C59T:p.A20V	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.325066551618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-06	7.528e-06	5.45e-06	2.036e-06	0.0004	9e-07	6.1e-07	8.9e-07	2.5e-07	0	0	0	0	0	0.0004	3.351e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.884	0.48618	P	0.028	0.21332	B	.	.	.	.	0.999951	0.19072	N	0	0.06538	N	1.58	0.59851	T	-0.47	0.23590	N	0.101	0.13198	-1.0444	0.16000	T	0.067	0.27606	T	9	0.16415998	0.30719	T	0.325067	0.91588	D	0.054	0.15330	0.28	0.23483	0.564798353577	0.56142	0.1043093477809479	0.10360	0.484296959142	0.47345	0.635471105576	0.57921	T	0.048426	0.37853	T	-0.116495	0.33699	T	-0.405114	0.32789	T	0.476813812794801	0.31780	T	0.477152	0.18642	T	0.105247624	0.24882	0.1118501	0.26984	0.105247624	0.24882	0.1118501	0.26983	-4.557	0.31767	T	.	.	0.404	0.59777	A	.;.;.;.;.;.	.;.;.;.;.;.	3.026186	0.40518	21.2	0.98092641179179418	0.38206	0.32323	0.24557	N	ALL	0.077596	0.15637	N	-0.305333434930208	0.28945	1.60084	-0.273270269567027	0.28983	1.62019	0.999999816234695	0.74766	0.65757	0.49021	0	0.609123	0.50646	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	2.45	1.51	0.22094	0.973000	0.29020	2.539000	0.33206	0.418000	0.20770	0.013000	0.18845	0.998000	0.33993	0.929000	0.46594	0.0:0.823:0.0:0.177	5.024	0.13718	98	0.95963	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.08	8	chr11	47980971	.	C	T	31.08	.	AC=2;AF=0.056;AN=36;DP=95;ExcessHet=0;FS=0;InbreedingCoeff=0.4348;MLEAC=1;MLEAF=0.028;MQ=60;QD=15.54;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	17	1	0	1
chr11	48130511	48130511	C	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon8:c.C1410G:p.I470M,PTPRJ:NM_002843:exon8:c.C1410G:p.I470M	Colon cancer, somatic	0	1506	15	0	1	16	0.0049554	.	.	.	3207171	PTPRJ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.221	0.0704267908221	0.0008	0.000399361	0.0009	9.614e-05	0.0002	0	0	0.0009	0.0033	0.0029	0.000815	126	154602	rs141853869	0.0008	0.0008	0.0007	0.0009	0.0052	0.0007	0.0007	0.0037	0.0033	2.991e-05	0.0004	0.0033	0.0001	7.489e-05	0.0052	0.0006	0.0011	0.0030	0.0006	0.0006	0.0006	0.0005	0.0025	0.0005	0.0004	0.0014	0.0011	0.0003	0	0.0002	0.0026	0	0.0003	0	0.0007	0.0009	0.0025	0.007	0.68238	D	0.007	0.69154	D	0.991	0.64070	D	0.927	0.66185	D	.	.	.	.	1	0.19072	N	2.205	0.62170	M	0.35	0.58029	T	-1.6	0.47852	N	0.573	0.59901	-0.6627	0.62157	T	0.263	0.63458	T	9	0.025517017	0.00744	T	0.070427	0.71001	D	0.221	0.51721	.	.	0.55973633643	0.55634	0.5413254697788727	0.54057	0.827406979319	0.67474	0.340228527784	0.16473	T	0.097963	0.55259	T	-0.374165	0.03389	T	-0.314542	0.43169	T	0.0932946162053477	0.11603	T	0.636336	0.25328	T	0.10300454	0.24344	0.124236524	0.29947	0.11606378	0.27381	0.14157389	0.33708	-4.93	0.39486	T	.	.	0.126	0.31980	B	.;.;.;.	.;.;.;.	0.608153	0.09765	6.533	0.98577963343857589	0.43206	0.26124	0.22902	N	AEFGBI	0.153363	0.27820	N	-0.458090945984254	0.23467	1.26038	-0.695823800056109	0.17065	0.9056831	0.999990151226676	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	-4.16	0.03606	-0.753000	0.04897	.	.	-0.826000	0.02916	0.108000	0.22953	0.000000	0.08366	0.001000	0.02609	0.0:0.6009:0.0:0.3991	13.514	0.60989	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003033	0.000000	0.001359	0.002924	0.000000	0.017241	0.003086	0.000000	0.05263	2308.83	35	chr11	48130511	.	C	G	2308.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.097;SOR=0.685	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1270,0,1453	17	0	2	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,68:252:99:0|1:56375918_A_G:2301,0,7521:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,68:252:99:0|1:56375918_A_G:2301,0,7521:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,68:252:99:0|1:56375918_A_G:2301,0,7521:56375918	2	0	16	1
chr11	57741941	57741941	C	T	exonic	SELENOH	.	unknown	UNKNOWN	.	416	1049	52	5	0	62	0.0287037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0077	0.00419329	0.0103	0.0014	0.0036	0	0.0035	0.0144	0.0114	0.0102	0.007322	1132	154602	rs1127680	0.0066	0.0066	0.0064	0.0068	0.0306	0.0065	0.0064	0.0268	0.0254	0.0009	0.0041	0.0818	0	0.0036	0.0306	0.0050	0.0118	0.0082	0.0061	0.0061	0.0063	0.0060	0.0091	0.0058	0.0057	0.0070	0.0062	0.0008	0	0.0046	0.0841	0	0.0042	0.0204	0.0062	0.0085	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031282	0.030303	0.027174	0.026316	0.050000	0.034483	0.049383	0.030303	0.02632	1095.33	34	chr11	57741941	.	C	T	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.661;DP=766;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.807;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,46:96:99:0|1:57741941_C_T:1109,0,1320:57741941	18	0	1	0
chr11	60842643	60842643	G	T	exonic	CCDC86	.	nonsynonymous SNV	CCDC86:NM_024098:exon1:c.G519T:p.E173D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.021266309948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.438	0.13403	T	0.982	0.60036	D	0.765	0.56630	P	0.000298	0.46274	D	0.138226	0.979077	0.25206	N	2.045	0.56016	M	0.52	0.55266	T	-0.22	0.10480	N	0.12	0.11054	-0.8937	0.48605	T	0.191	0.54272	T	10	0.22831908	0.39733	T	0.021266	0.44012	T	0.143	0.38195	0.366	0.37361	0.605489583597	0.60233	0.07805181340699992	0.07741	0.386528501848	0.39939	0.574302911758	0.49284	T	0.123324	0.44761	T	-0.195031	0.21523	T	-0.517925	0.20504	T	0.447809815406799	0.30717	T	0.60064	0.22426	T	0.11715794	0.27624	0.07382185	0.16082	0.11715794	0.27624	0.07382185	0.16082	-5.37	0.40630	T	.	.	0.197	0.41947	B	.	.	3.002959	0.40130	21.1	0.99620931487747233	0.75413	0.46316	0.27733	N	AEFDGBCI	0.195333	0.32238	N	0.0489950379060494	0.44095	2.689972	-0.0492513388723602	0.37522	2.198143	0.999998532979551	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.657601	0.63696	0	.	.	4.1	2.21	0.27042	0.318000	0.19252	1.803000	0.28899	0.676000	0.76740	0.075000	0.22209	1.000000	0.68203	0.376000	0.26245	0.2078:0.0:0.7922:0.0	7.850	0.28613	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	259.33	34	chr11	60842643	.	G	T	259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.014;DP=790;ExcessHet=0;FS=49.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=-0.889;SOR=5.994	GT:AD:DP:GQ:PL	0/1:80,19:99:99:273,0,2185	18	0	1	0
chr11	61740527	61740527	G	T	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918T:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0304591146957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85644996	0.84843	D	0.030459	0.52764	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569647516327	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.135522	0.85954	28.8	0.99708366932876669	0.81143	0.99757	0.99242	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5859.65	112	chr11	61740527	.	G	T	5859.65	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,18:99:99:.:.:258,0,2360:.	18	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,31:107:99:.:.:409,0,2354:.	2	0	17	0
chr11	62604006	62604006	C	T	exonic	EML3	.	nonsynonymous SNV	EML3:NM_001300793:exon18:c.G2110A:p.V704M,EML3:NM_001300794:exon18:c.G2107A:p.V703M,EML3:NM_153265:exon18:c.G2107A:p.V703M	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0131611026899	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773358190	6.157e-06	6.156e-06	8.167e-06	4.125e-06	1.159e-05	2.9e-06	2.1e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.269	0.16091	T	0.069	0.43913	T	0.006	0.16609	B	0.008	0.14941	B	0.019396	0.27268	N	0.445552	0.998669	0.22000	N	0	0.06538	N	1.03	0.60111	T	0.78	0.02228	N	0.143	0.16308	-1.0472	0.15188	T	0.083	0.32499	T	10	0.07576215	0.11749	T	0.013161	0.32344	T	0.118	0.32913	.	.	0.44750879378	0.44372	0.09385492925778283	0.09317	0.742370381414	0.63329	0.346704572439	0.17436	T	0.018961	0.15193	T	-0.0688913	0.41504	T	-0.336734	0.40714	T	0.169677213677182	0.18558	T	0.818818	0.48627	T	0.023972297	0.01184	0.046063166	0.06338	0.023972297	0.01184	0.046063166	0.06338	-5.56	0.42425	T	.	.	0.115	0.23077	B	.;.;.;.;.	.;.;.;.;.	2.431743	0.31284	18.69	0.86818512115220792	0.16794	0.43738	0.27164	N	AEFDGBIJ	0.072782	0.14537	N	-0.506677281120073	0.21864	1.163401	-0.274620622737786	0.28937	1.617331	0.999999535825718	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.493711	0.08198	1	0.714379	0.83352	0	.	.	5.5	4.38	0.52019	3.752000	0.54889	.	.	-0.206000	0.08541	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1885:0.0:0.8115	6.629	0.22038	177	0.93145	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3779.33	39	chr11	62604006	.	C	T	3779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=904;ExcessHet=0;FS=7.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.248;SOR=1.111	GT:AD:DP:GQ:PL	0/1:124,139:263:99:3793,0,2949	18	0	1	0
chr11	62632644	62632644	T	C	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon6:c.A575G:p.N192S,GANAB:NM_001278192:exon7:c.A641G:p.N214S,GANAB:NM_001278194:exon8:c.A626G:p.N209S,GANAB:NM_001329222:exon9:c.A626G:p.N209S,GANAB:NM_001329223:exon9:c.A626G:p.N209S,GANAB:NM_001329224:exon9:c.A194G:p.N65S,GANAB:NM_001329225:exon9:c.A194G:p.N65S,GANAB:NM_198334:exon9:c.A917G:p.N306S,GANAB:NM_198335:exon10:c.A983G:p.N328S	Polycyctic kidney disease 3, Autosomal dominant	432	1080	10	0	0	10	0.00460829	.	.	.	724535	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0028	.	0.0049	0.0011	0.0004	0	0.0101	0.0070	0.0011	0.0021	0.004573	707	154602	rs138726440	0.0044	0.0044	0.0045	0.0043	0.0046	0.0043	0.0043	0.0045	0.0045	0.0006	0.0007	0.0111	0	0.0098	0.0035	0.0046	0.0040	0.0017	0.0035	0.0035	0.0037	0.0033	0.0052	0.0033	0.0032	0.0048	0.0046	0.0007	0	0.0010	0.0110	0	0.0077	0.0034	0.0052	0.0028	0.0012	0.541	0.06957	T	0.809	0.07468	T	0.0	0.02946	B	0.001	0.04355	B	0.000649	0.42656	N	0.261565	0.999828	0.20203	N	0.11	0.08516	N	-2.01	0.85468	D	-1.12	0.28906	N	0.033	0.01911	-0.8736	0.50257	T	0.265	0.63588	T	10	0.0070911944	0.00161	T	.	.	.	0.212	0.50341	.	.	0.340432005269	0.33650	0.49544786061884327	0.49465	0.767965699156	0.64618	0.273152649403	0.06556	T	0.252279	0.62264	T	-0.533372	0.00367	T	-0.529534	0.19333	T	0.000141800669837077	0.00001	T	0.865513	0.57326	D	0.02692425	0.01812	0.030786233	0.01578	0.026322605	0.01675	0.030878738	0.01601	-2.649	0.06885	T	.	.	0.05	0.00291	B	.;.;.;.;.	.;.;.;.;.	1.570670	0.20107	14.59	0.78824133089307502	0.12468	0.34533	0.25090	N	AEFGBIJ	0.149852	0.27402	N	-0.805600821430263	0.13167	0.6467562	-0.674514824745221	0.17598	0.9365269	0.161352583486665	0.17598	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.19	-1.25	0.08920	1.003000	0.29410	.	.	0.665000	0.62972	0.641000	0.28093	0.019000	0.20708	0.998000	0.85391	0.0:0.6261:0.0:0.3739	11.021	0.46932	250	0.90192	.;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.010101	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1648.33	35	chr11	62632644	.	T	C	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.375;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.56;SOR=0.698	GT:AD:DP:GQ:PL	0/1:44,66:110:99:1662,0,1059	18	0	1	0
chr11	67436256	67436256	G	A	exonic	PTPRCAP	.	nonsynonymous SNV	PTPRCAP:NM_005608:exon2:c.C98T:p.S33F	.	410	1108	4	0	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0118154733766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.026e-06	4.788e-06	2.836e-06	7.27e-06	0.0011	2.09e-06	1.34e-06	0.0005	0.0003	0	0	0	0	0	0.0011	0	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.173	0.30143	T	0.971	0.57185	D	0.875	0.62107	P	0.610303	0.10873	U	0.696895	0.960703	0.26136	N	1.385	0.34509	L	0.75	0.50192	T	-4.63	0.79229	D	0.253	0.28616	-0.9626	0.38684	T	0.167	0.50534	T	10	0.24728072	0.42006	T	0.011815	0.29802	T	0.077	0.22490	0.261	0.20473	0.209943299407	0.20609	0.5283937936371376	0.52763	0.292402306145	0.31654	0.559730291367	0.47229	T	0.456314	0.79513	T	-0.175933	0.24344	T	-0.490492	0.23340	T	0.823010683059692	0.47997	D	0.70043	0.31009	T	0.13662222	0.31665	0.2166501	0.46301	0.13662222	0.31664	0.2166501	0.46300	-5.599	0.42783	T	.	.	0.289	0.52102	B	.	.	2.585357	0.33527	19.37	0.99280360121325029	0.57869	0.47868	0.28079	N	AEFDGBHCI	0.145206	0.26837	N	0.0640524989920845	0.44790	2.746805	0.00147293643867834	0.39785	2.364176	0.99999999899284	0.74766	0.538715	0.22204	0	0.52208	0.09955	0	0.78367	0.99111	0	0.711	0.71501	0	.	.	4.93	4.0	0.45673	0.343000	0.19686	2.418000	0.32674	0.590000	0.31872	0.002000	0.15269	0.262000	0.23990	0.774000	0.36673	0.1018:0.0:0.8982:0.0	9.473	0.38020	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	.	.	.	.	.	.	.	.	0.02632	709.33	42	chr11	67436256	.	G	A	709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=706;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.994;SOR=0.846	GT:AD:DP:GQ:PL	0/1:32,26:58:99:723,0,844	18	0	1	0
chr11	70486142	70486142	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon10:c.C2387T:p.A796V,SHANK2:NM_001379226:exon15:c.C3014T:p.A1005V,SHANK2:NM_012309:exon25:c.C4151T:p.A1384V	.	0	1521	1	0	0	1	0.000328623	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00338496750522	.	.	2.48e-05	0	0.0003	0	0	0	0	0	2.59e-05	4	154602	rs782510001	1.095e-05	1.095e-05	9.534e-06	1.238e-05	0.0002	6.48e-06	5.25e-06	7.41e-06	2.77e-06	2.987e-05	4.473e-05	0	0	1.878e-05	0.0002	7.198e-06	1.656e-05	2.319e-05	1.973e-05	1.97e-05	0	4.038e-05	7.244e-05	5.24e-06	2.46e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	0	0	0	0.072	0.34982	T	0.038	0.51421	D	0.931	0.51899	P	0.245	0.38823	B	0.000186	0.48115	D	0.247585	0.651782	0.32970	D	.	.	.	2.05	0.47815	T	-1.91	0.62863	N	0.383	0.42443	-1.1097	0.03096	T	0.047	0.20116	T	10	0.24238455	0.41433	T	0.003385	0.07572	T	0.108	0.30607	.	.	0.262679179196	0.25893	0.28291120935489505	0.28204	0.460673819842	0.45622	0.46632155776	0.34176	T	0.032051	0.25054	T	-0.232706	0.16292	T	-0.396196	0.33827	T	0.791125297546387	0.45763	D	0.973703	0.91539	D	.	.	.	.	.	.	.	.	-4.287	0.27994	T	.	.	0.160	0.37951	B	.;.;.;.;.	.;.;.;.;.	4.167358	0.62634	24.5	0.99812990603225027	0.89708	0.99673	0.98548	D	AEFDBI	0.902948	0.85144	D	0.354940176248648	0.59002	4.076077	0.435575158500221	0.63795	4.620626	0.995666009452194	0.34254	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.53	4.61	0.56724	8.951000	0.92928	9.770000	0.81549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.862:0.138	15.698	0.77274	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7244.33	34	chr11	70486142	.	G	A	7244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.59;DP=1247;ExcessHet=0;FS=0.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.362;SOR=0.629	GT:AD:DP:GQ:PL	0/1:226,266:492:99:7258,0,5235	18	0	1	0
chr11	73234860	73234860	G	A	exonic	P2RY2	.	nonsynonymous SNV	P2RY2:NM_002564:exon3:c.G701A:p.G234D,P2RY2:NM_176071:exon3:c.G701A:p.G234D,P2RY2:NM_176072:exon3:c.G701A:p.G234D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0649460453161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.12386	T	0.678	0.06147	T	0.987	0.61912	D	0.831	0.59664	P	.	.	.	.	1	0.08975	N	1.82	0.47800	L	0.02	0.62318	T	-0.55	0.16799	N	0.261	0.29544	-0.9525	0.40538	T	0.172	0.51373	T	9	0.2770656	0.45271	T	0.064946	0.69430	D	0.124	0.34239	0.421	0.46365	0.839110781246	0.83757	0.6817894016080658	0.68117	1.00363903737	0.74507	0.635435342789	0.57916	T	0.059761	0.31203	T	-0.119362	0.33228	T	-0.409232	0.32315	T	0.272817015647888	0.23868	T	0.750425	0.37198	T	0.105611786	0.24970	0.111851804	0.26984	0.105611786	0.24970	0.111851804	0.26983	-4.789	0.34463	T	.	.	0.150	0.33273	B	.;.;.	.;.;.	3.460545	0.48228	22.6	0.99210196829586628	0.55563	0.08692	0.14585	N	AEFDBI	0.151437	0.27592	N	-0.288325999231914	0.29597	1.642802	-0.397168851331344	0.25081	1.37721	0.991430480840398	0.32487	0.615465	0.37627	0	0.573888	0.26702	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.32	2.28	0.27583	0.822000	0.27007	6.537000	0.55873	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.400000	0.26782	0.0:0.1735:0.4915:0.335	6.089	0.19206	547	0.72440	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1937.33	188	chr11	73234860	.	G	A	1937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.679;DP=2440;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.517;SOR=0.696	GT:AD:DP:GQ:PL	0/1:83,73:156:99:1951,0,2359	18	0	1	0
chr11	74085833	74085833	T	C	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon21:c.A3695G:p.N1232S,C2CD3:NM_015531:exon21:c.A3695G:p.N1232S	.	425	1069	26	2	0	30	0.0138376	.	.	.	237381	C2CD3-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.260	.	0.0062	0.00359425	0.0074	0.0018	0.0025	0.0002	0.0018	0.0090	0.0078	0.0138	0.0071668	1108	154602	rs140307393	0.0081	0.0081	0.0078	0.0084	0.0136	0.0080	0.0079	0.0130	0.0127	0.0013	0.0036	0.0036	5.04e-05	0.0022	0.0133	0.0087	0.0078	0.0136	0.0056	0.0055	0.0057	0.0054	0.0112	0.0052	0.0051	0.0088	0.0082	0.0015	0	0.0054	0.0023	0.0002	0.0016	0.0034	0.0090	0.0038	0.0112	0.065	0.91255	T	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.047690	0.998178	0.44592	D	2.275	0.64647	M	2.1	0.22474	T	-3.73	0.70920	D	0.618	0.67822	-1.0898	0.05565	T	0.087	0.33774	T	9	0.008733511	0.00198	T	.	.	.	0.260	0.57221	.	.	0.730538620245	0.72814	0.6667703258334168	0.66615	0.450404353452	0.44807	0.605244636536	0.53645	T	0.566117	0.85558	D	-0.443432	0.01235	T	-0.398059	0.33611	T	0.00854146172025429	0.00104	T	0.928907	0.75503	D	0.16323857	0.36452	0.28754643	0.54767	0.13781822	0.31896	0.2813219	0.54112	-6.251	0.48333	T	0.8860313117378174	0.94227	0.290	0.52144	B	.;.;.	.;.;.	4.933726	0.81364	27.5	0.99834264341119572	0.91542	0.96462	0.69259	D	AEFBHCI	0.847817	0.76465	D	0.709629925426277	0.80264	7.255832	0.723519105273188	0.84165	8.216543	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.453000	0.79758	7.851000	0.70967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.798	0.78201	381	0.83684	C2 domain|C2 domain|C2CD3, C2 domain;.;C2 domain|C2 domain|C2CD3, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.005435	0.020468	0.000000	0.000000	0.006098	0.015152	0.05263	2557.83	36	chr11	74085833	.	T	C	2557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.135;DP=953;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.446;SOR=0.68	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1216,0,1459	17	0	2	0
chr11	89798596	89798596	T	A	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon8:c.A893T:p.N298I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00116388848747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.065e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.57e-06	7.377e-06	1.655e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	0.382	0.11262	T	0.233	0.26066	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	P	0.77	0.19370	N	3.61	0.04446	T	-2.37	0.52289	N	0.097	0.08646	-0.9187	0.45729	T	0.008	0.02926	T	7	0.10028699	0.18253	T	0.001164	0.01459	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.04938783207369222	0.04881	1.44203539607	0.85998	0.334336340427	0.15588	T	0.059417	0.31111	T	-0.377	0.03254	T	-0.779311	0.02474	T	0.0247588385099668	0.01242	T	0.533547	0.17787	T	0.101269715	0.23920	0.07123878	0.15231	0.101269715	0.23920	0.07123878	0.15231	-5.954	0.45892	T	.	.	0.133	0.28721	B	.;.	.;.	0.077176	0.04842	1.439	0.37597660605401922	0.02487	0.00232	0.01297	N	AEFI	0.032790	0.03771	N	-1.62520110813126	0.01144	0.04969927	-1.73266627541319	0.01000	0.04482244	2.44542554862413E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.821	-0.818	0.10286	-2.406000	0.01121	-20.000000	0.00162	-0.411000	0.05262	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.0:0.7374	4.687	0.12144	834	0.38640	Butyrophylin-like, SPRY domain|B30.2/SPRY domain;Butyrophylin-like, SPRY domain|B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	9438.84	154	chr11	89798596	.	T	A	9438.84	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.983;DP=2554;ExcessHet=1.0583;FS=0.609;InbreedingCoeff=0.0307;MLEAC=1;MLEAF=0.026;MQ=46.51;MQRankSum=-5.499;QD=6.46;ReadPosRankSum=2.15;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:184,25:214:99:.:.:270,0,5331:.	18	0	1	0
chr11	90041084	90041084	G	T	exonic	TRIM49C	.	nonsynonymous SNV	TRIM49C:NM_001195234:exon8:c.G893T:p.S298I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000863922305404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.911e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.11085	T	0.202	0.27414	T	0.356	0.33761	B	0.089	0.29769	B	.	.	.	.	1	0.08975	N	2.86	0.83026	M	3.57	0.04645	T	-2.24	0.50175	N	0.124	0.11626	-0.9869	0.33371	T	0.015	0.05801	T	8	0.1714926	0.31872	T	8.64E-4	0.00755	T	0.023	0.04649	0.621	0.75576	0.0986583533028	0.09354	0.0367505531067137	0.03622	2.1666736912	0.95441	0.372242420912	0.21153	T	0.098952	0.40328	T	-0.323069	0.06649	T	-0.701842	0.05726	T	0.319058060646057	0.25784	T	0.655434	0.26547	T	0.07130871	0.15778	0.06850487	0.14314	0.07130871	0.15777	0.06850487	0.14313	-6.598	0.51038	T	.	.	0.152	0.33732	B	.	.	0.030084	0.04492	1.202	0.20437026457783802	0.00735	0.00423	0.02085	N	AEFI	0.027895	0.02361	N	-0.959999858008521	0.09469	0.4483073	-1.17038940689344	0.06409	0.3084263	1.25701302786964E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.823	-0.634	0.10937	-1.320000	0.02808	-8.534000	0.00954	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4432:0.0:0.5568:0.0	3.202	0.06255	900	0.24599	Butyrophylin-like, SPRY domain|B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	300.33	37	chr11	90041084	.	G	T	300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.542;DP=3217;ExcessHet=0;FS=3.556;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=44.6;MQRankSum=-3.977;QD=2.59;ReadPosRankSum=0.206;SOR=0.434	GT:AD:DP:GQ:PL	0/1:88,28:127:99:314,0,2439	18	0	1	0
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E	.	439	1030	50	3	0	56	0.026465	.	.	.	3213399	HEPHL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	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	0.012588	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.034091	0.07895	5947.79	34	chr11	94104605	.	C	A	5947.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.34;DP=1086;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.578;SOR=0.68	GT:AD:DP:GQ:PL	0/1:83,84:167:99:2336,0,2026	16	0	3	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.060317	0.046667	0.130952	0.086420	0.000000	0.000000	0.047945	0.121622	0.05263	3973.83	38	chr11	94528131	.	G	A	3973.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=991;ExcessHet=0.119;FS=3.861;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.75;SOR=0.934	GT:AD:DP:GQ:PL	0/1:78,77:155:99:1939,0,2022	17	0	2	0
chr11	94589192	94589192	G	A	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon8:c.G986A:p.R329Q	.	434	1047	38	3	0	44	0.02058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00244002209194	0.0021	0.00279553	0.0031	0.0009	0.0018	0.0003	0.0003	0.0033	0.0022	0.0072	0.0028266	437	154602	rs149372122	0.0023	0.0023	0.0021	0.0025	0.0302	0.0023	0.0022	0.0265	0.0251	0.0015	0.0021	0.0179	0.0003	0.0001	0.0302	0.0016	0.0049	0.0065	0.0022	0.0022	0.0021	0.0023	0.0075	0.0020	0.0019	0.0056	0.0049	0.0006	0	0.0031	0.0193	0.0004	0.0002	0.0170	0.0020	0.0066	0.0075	0.291	0.14945	T	0.539	0.09795	T	0.104	0.25941	B	0.041	0.23986	B	0.008016	0.31069	N	0.221517	0.971075	0.25672	N	2.335	0.66956	M	2.53	0.14038	T	-0.9	0.24244	N	0.103	0.08646	-1.0311	0.20099	T	0.017	0.06855	T	10	0.005399823	0.00119	T	0.00244	0.04813	T	0.013	0.01715	.	.	0.39694197178	0.39312	0.18378899712524147	0.18297	0.376133211831	0.39054	0.261308073997	0.05048	T	0.019712	0.15652	T	-0.605849	0.00134	T	-0.639869	0.09678	T	0.0138040315181403	0.00261	T	0.838616	0.51177	T	0.15862426	0.35676	0.17096731	0.39245	0.15862426	0.35676	0.17096731	0.39245	-6.037	0.46588	T	.	.	0.089	0.12084	B	.	.	2.953575	0.39306	20.9	0.9918277867257318	0.54730	0.71900	0.35215	D	AEFBI	0.103335	0.20706	N	-0.26063306178762	0.30680	1.713019	-0.121544618188335	0.34523	1.986769	0.00824028543392635	0.11637	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.96	2.99	0.33673	1.442000	0.34656	2.413000	0.32651	0.676000	0.76740	0.998000	0.41325	0.939000	0.28734	0.997000	0.79791	0.2858:0.0:0.7142:0.0	7.358	0.25902	793	0.45818	PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.005051	0.021739	0.032164	0.000000	0.051724	0.024390	0.022727	0.02632	1360.33	34	chr11	94589192	.	G	A	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=807;ExcessHet=0;FS=1.389;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.62;SOR=0.878	GT:AD:DP:GQ:PL	0/1:87,55:142:99:1374,0,2236	18	0	1	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	169.46	70	chr11	94618061	.	G	C	169.46	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.673;DP=1053;ExcessHet=0.119;FS=168.354;InbreedingCoeff=-0.0888;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.454;SOR=8.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,11:56:16:0|1:94618061_G_C:16,0,818:94618061	15	0	2	2
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C,CFAP300:NM_032930:exon7:c.C754T:p.R252C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.402	0.0196262632994	0.0002	.	0.0008	0	0	0	0.0095	0.0004	0.0055	0.0001	0.0006274	97	154602	rs199754694	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0001	0	0	0	0	0.0077	0.0004	0.0001	0.0003	5.177e-05	0.0008	0.0008	0.0005	0.0011	0.0003	0.0007	0.0006	0.0002	0.0002	0	0	0	0	0	0.0093	0	0.0003	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.111228	1	0.81001	D	.	.	.	.	.	.	-6.48	0.91522	D	0.742	0.74189	0.160	0.85220	D	0.554	0.83714	D	9	0.01345405	0.00285	T	0.019626	0.42042	T	0.402	0.71558	.	.	0.397838977388	0.39401	0.6586120345125259	0.65798	0.296031586504	0.31989	.	.	.	0.450544	0.79162	T	0.0916386	0.63374	D	0.275824	0.86894	D	0.314283013343811	0.25589	T	0.90351	0.66162	D	0.55164206	0.70047	0.55351985	0.74180	0.5705614	0.71093	0.47705978	0.69703	-6.605	0.51092	T	0.8524982137200119	0.91826	0.356	0.56978	A	.	.	5.162112	0.86499	28.9	0.99896201395295592	0.96895	0.93366	0.58024	D	AEFI	0.616943	0.60332	D	0.723642464063522	0.81183	7.462696	0.652843280005214	0.78823	6.954376	0.154896683155306	0.17500	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	4.524000	0.60267	5.955000	0.51719	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	19.761	0.96315	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	317.84	97	chr11	102083149	.	C	T	317.84	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.3;DP=944;ExcessHet=0.7564;FS=421.434;InbreedingCoeff=-0.1244;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.71;SOR=9.401	GT:AD:DP:GQ:PL	0/1:67,36:103:99:109,0,860	15	0	4	0
chr11	102350612	102350612	C	T	exonic	BIRC2	.	nonsynonymous SNV	BIRC2:NM_001166:exon2:c.C758T:p.S253F,BIRC2:NM_001256163:exon2:c.C758T:p.S253F,BIRC2:NM_001256166:exon2:c.C611T:p.S204F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00586164036829	.	.	4.96e-05	0	0.0004	0	0	0	0	6.06e-05	4.53e-05	7	154602	rs781404080	2.941e-05	2.941e-05	3.131e-05	2.75e-05	0.0004	2.216e-05	1.97e-05	0.0003	0.0002	0	0.0004	0	0	0	0.0003	1.169e-05	3.311e-05	6.956e-05	2.63e-05	2.627e-05	3.856e-05	1.346e-05	0.0003	8.15e-06	5.14e-06	8.881e-05	5.389e-05	0	0	0.0003	0	0	0	0	0	0	0	0.051	0.41637	T	0.048	0.51737	D	0.595	0.39190	P	0.142	0.33681	B	0.228245	0.15980	N	0.673047	0.972895	0.26012	N	0.655	0.16177	N	1.92	0.23082	T	-1.74	0.42384	N	0.346	0.40665	-1.0708	0.09238	T	0.030	0.13067	T	10	0.09816247	0.17728	T	0.005862	0.15251	T	0.064	0.18567	.	.	0.793723814882	0.79180	0.5490953215306571	0.54835	0.0860599729481	0.09724	0.423931360245	0.28377	T	0.172189	0.52059	T	-0.395556	0.02476	T	-0.471815	0.25321	T	0.0557746316371005	0.06486	T	0.466353	0.13696	T	0.12921861	0.30187	0.144554	0.34315	0.12921861	0.30186	0.144554	0.34314	-6.051	0.46703	T	.	.	0.137	0.41341	B	.;.;.;.;.	.;.;.;.;.	3.486662	0.48718	22.7	0.99367337237888853	0.61283	0.59191	0.30847	D	AEFDBCI	.	.	.	-0.112877441583564	0.36832	2.134338	0.0409762838870992	0.41638	2.504903	0.99999513304856	0.74766	0.722319	0.85440	0	0.635938	0.57008	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.71	4.61	0.56724	3.281000	0.51389	4.006000	0.41118	0.599000	0.40250	0.997000	0.40164	0.996000	0.32793	0.996000	0.76049	0.0:0.8516:0.0:0.1484	10.217	0.42354	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1447.33	33	chr11	102350612	.	C	T	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=737;ExcessHet=0;FS=6.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.181;SOR=1.307	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1461,0,1575	18	0	1	0
chr11	102611773	102611773	T	G	exonic	MMP20	.	nonsynonymous SNV	MMP20:NM_004771:exon3:c.A505C:p.I169L	Amelogenesis imperfecta, type IIA2, Autosomal recessive	0	1484	35	3	0	41	0.0136258	.	.	.	324470	Amelogenesis_imperfecta_hypomaturation_type_2A2|not_provided	MONDO:MONDO:0012926,MedGen:C2675858,OMIM:612529,Orphanet:88661|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0066	0.0273562	0.0132	0.0103	0.0032	0.0905	0	0.0028	0.0121	0.0291	0.0124966	1932	154602	rs17099008	0.0075	0.0075	0.0069	0.0081	0.0832	0.0073	0.0073	0.0808	0.0798	0.0120	0.0028	0.0002	0.0832	0.0001	0.0078	0.0036	0.0082	0.0288	0.0095	0.0095	0.0089	0.0100	0.0821	0.0091	0.0089	0.0756	0.0731	0.0124	0.0373	0.0046	0.0003	0.0821	0.0003	0.0068	0.0035	0.0080	0.0284	0.003	0.68238	D	0.051	0.47828	T	0.003	0.11197	B	0.424	0.45210	B	0.000848	0.41440	D	0.267929	0.998964	0.45775	D	1.965	0.53209	M	1.51	0.30937	T	-1.85	0.43334	N	0.145	0.14622	-1.0405	0.17162	T	0.010	0.03673	T	10	0.0022335649	0.00032	T	.	.	.	0.101	0.28911	0.739	0.87147	.	.	0.7443420672079913	0.74380	0.0959658060652	0.10830	0.469243943691	0.34576	T	0.09987	0.40511	T	-0.570989	0.00218	T	-0.521782	0.20114	T	0.0378741418454267	0.03310	T	0.882612	0.60317	D	0.6179698	0.73655	0.4395777	0.67305	0.74831414	0.80771	0.4293998	0.66623	-6.117	0.47248	T	0.2241891874147531	0.30273	0.317	0.54265	B	.	.	3.215316	0.43783	21.8	0.99052178842528649	0.51275	0.70799	0.34741	D	AEFGBCI	0.293574	0.40416	N	-0.228406973005845	0.31971	1.798246	-0.173602641907642	0.32511	1.850358	0.996210304616188	0.34598	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.35	1.82	0.24209	1.731000	0.37758	3.423000	0.38265	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2124:0.0:0.7876	9.067	0.35630	809	0.43032	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.005435	0.000000	0.000000	0.000000	0.015244	0.022727	0.02632	287.33	41	chr11	102611773	.	T	G	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.403;DP=669;ExcessHet=0;FS=1.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=-0.46;SOR=0.403	GT:AD:DP:GQ:PL	0/1:30,12:42:99:301,0,927	18	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	T	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,27:151:68:0|1:106010659_C_T:68,0,4322:106010659	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,27:151:68:0|1:106010659_C_T:68,0,4322:106010659	1	0	10	8
chr11	108271261	108271261	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon20:c.T2932C:p.S978P,ATM:NM_001351834:exon21:c.T2932C:p.S978P	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	2	1502	18	0	0	18	0.00595632	.	.	YES	132819	Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|ATM-related_cancer_predisposition|Ataxia-telangiectasia_syndrome|not_provided|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0700270,MedGen:CN377759|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:C3661900|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.874	0.439558008784	0.0003	0.000599042	0.0012	0.0002	0.0003	0	0	0.0007	0.0022	0.0057	0.0011125	172	154602	rs139552233	0.0008	0.0008	0.0007	0.0009	0.0050	0.0008	0.0008	0.0046	0.0044	0.0002	0.0002	7.654e-05	0	0	0.0017	0.0006	0.0012	0.0050	0.0004	0.0004	0.0004	0.0005	0.0035	0.0004	0.0003	0.0022	0.0018	7.221e-05	0	0.0003	0	0	0	0	0.0006	0.0019	0.0035	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.102849	0.998516	0.45021	D	2.83	0.82355	M	-0.81	0.73949	T	-2.69	0.58248	D	0.943	0.95021	0.201	0.85916	D	0.569	0.84368	D	10	0.03129506	0.01263	T	0.439558	0.94138	D	0.874	0.96243	.	.	0.948311976186	0.94776	0.6075241820053727	0.60684	0.523745419462	0.50081	0.40658468008	0.25985	T	0.158256	0.50120	T	0.0625134	0.59927	T	0.317973	0.89005	D	0.120116724385006	0.14441	T	0.79772	0.55771	T	0.7786302	0.82570	0.6004758	0.76789	0.81016994	0.84566	0.6295642	0.78395	-5.935	0.45733	T	0.3684974576213956	0.46427	0.650	0.70913	P	.;.;.	.;.;.	4.471605	0.69679	25.4	0.99890320250132414	0.96436	0.98765	0.86563	D	AEFBI	0.805720	0.73023	D	0.739625117531926	0.82229	7.711089	0.719132624524002	0.83831	8.126331	0.990771903259458	0.32265	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	6.399000	0.73172	6.095000	0.53488	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.892	0.79091	144	0.94257	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.011364	0.05263	4018.83	48	chr11	108271261	.	T	C	4018.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.96;DP=1009;ExcessHet=0.119;FS=1.857;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.59;SOR=0.812	GT:AD:DP:GQ:PL	0/1:91,83:174:99:2075,0,2436	17	0	2	0
chr11	123883161	123883161	G	A	exonic	TMEM225	.	nonsynonymous SNV	TMEM225:NM_001013743:exon4:c.C655T:p.R219C,TMEM225:NM_001363605:exon4:c.C505T:p.R169C	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.00414493850515	.	0.000998403	0.0012	0.0003	0.0003	0	0	6.001e-05	0.0011	0.0085	0.0010479	162	154602	rs201383725	0.0006	0.0006	0.0003	0.0009	0.0091	0.0006	0.0006	0.0086	0.0084	2.992e-05	2.238e-05	0	0	0	0.0024	3.059e-05	0.0007	0.0091	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0	0	0	7.352e-05	0	0.0070	0.002	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	0.000362	0.45194	D	0.000000	0.999999	0.08975	N	.	.	.	1.17	0.37910	T	-7.09	0.93950	D	0.258	0.29197	-1.0257	0.21853	T	0.052	0.22114	T	10	0.006457418	0.00146	T	0.004145	0.09931	T	0.175	0.44197	0.533	0.64148	0.082315109003	0.07666	0.17085404347730407	0.17005	0.174624828113	0.19662	0.419091820717	0.27712	T	.	.	.	-0.436273	0.01360	T	-0.392488	0.34261	T	0.167498312760511	0.18409	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31381	B	.	.	3.361952	0.46415	22.3	0.95693108330412957	0.27572	0.02624	0.07210	N	AEFI	0.051674	0.09152	N	-0.596918522863486	0.19038	0.9932723	-0.673246039519624	0.17631	0.9383694	1.16492165728706E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	2.98	0.33575	1.273000	0.32724	1.854000	0.29277	0.676000	0.76740	0.009000	0.18154	0.012000	0.20211	0.001000	0.02609	0.1179:0.0:0.8821:0.0	7.407	0.26166	785	0.46916	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.026515	0.02632	541.33	43	chr11	123883161	.	G	A	541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=626;ExcessHet=0;FS=3.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.397;SOR=0.33	GT:AD:DP:GQ:PL	0/1:17,20:37:99:555,0,400	18	0	1	0
chr11	124870663	124870663	C	T	exonic	ROBO3	.	nonsynonymous SNV	ROBO3:NM_022370:exon6:c.C968T:p.T323M	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	1	1500	20	1	0	22	0.00727995	.	.	.	313034	Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1|ROBO3-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0020790,MedGen:C4551964,OMIM:607313,Orphanet:2744|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.317	0.032083336353	0.0015	0.00239617	0.0027	0.0003	0.0016	0.0001	0	0.0025	0.0052	0.0074	0.0022898	354	154602	rs151168595	0.0023	0.0023	0.0021	0.0024	0.0078	0.0022	0.0022	0.0060	0.0054	0.0003	0.0013	0.0071	5.039e-05	9.366e-05	0.0078	0.0021	0.0026	0.0060	0.0016	0.0016	0.0015	0.0016	0.0079	0.0014	0.0013	0.0059	0.0052	0.0004	0.0154	0.0008	0.0049	0	9.414e-05	0.0034	0.0020	0.0019	0.0079	0.022	0.48642	D	0.086	0.40909	T	0.997	0.70673	D	0.903	0.64103	P	0.001972	0.37549	N	0.000000	0.99998	0.54805	D	0.76	0.19266	N	-0.31	0.68030	T	-4.29	0.76414	D	0.494	0.54059	-0.3692	0.72986	T	0.376	0.73416	T	10	0.017130792	0.00364	T	0.032083	0.54006	D	0.317	0.63904	.	.	0.80569185795	0.80387	0.4394931041958056	0.43866	0.196689076968	0.22038	0.434984266758	0.29891	T	0.321641	0.69271	T	-0.330571	0.06068	T	-0.244451	0.50362	T	0.0478758717306086	0.05121	T	0.920008	0.71084	D	0.20085593	0.42075	0.3062838	0.56653	0.21977215	0.44517	0.30479282	0.56506	-7.501	0.57617	D	.	.	0.130	0.27762	B	.;.	.;.	4.538391	0.71308	25.7	0.99912849263067272	0.98167	0.96841	0.71229	D	AEFDBI	0.745310	0.68802	D	0.466704894550722	0.65156	4.78731	0.417104854761136	0.62631	4.481685	0.99999995657008	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.21	4.21	0.48984	6.105000	0.71165	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	16.700	0.85206	712	0.56465	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.001359	0.005848	0.000000	0.017241	0.027439	0.011364	0.02632	1397.33	60	chr11	124870663	.	C	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.247;DP=1060;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.44;SOR=0.585	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1411,0,1691	18	0	1	0
chr11	124880557	124880557	T	0	exonic	ROBO3	.	.	.	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	617.37	33	chr11	124880557	.	T	*	617.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.477;DP=833;ExcessHet=0.5777;FS=0.528;InbreedingCoeff=0.1044;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-1.898;SOR=0.749	GT:AD:DP:GQ:PL	0/1:30,30:60:99:1135,0,1149	11	2	6	0
chr11	125644635	125644635	A	G	exonic	CHEK1	.	nonsynonymous SNV	CHEK1:NM_001330427:exon10:c.A1273G:p.M425V,CHEK1:NM_001330428:exon10:c.A943G:p.M315V,CHEK1:NM_001114121:exon11:c.A1225G:p.M409V,CHEK1:NM_001114122:exon11:c.A1225G:p.M409V,CHEK1:NM_001244846:exon11:c.A1225G:p.M409V,CHEK1:NM_001274:exon11:c.A1225G:p.M409V	.	.	.	.	.	.	.	.	.	.	.	3300854	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0108062481531	.	.	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs759227173	1.916e-05	1.915e-05	1.906e-05	1.925e-05	0.0003	1.329e-05	1.144e-05	6.094e-05	2.522e-05	0	2.238e-05	0	0	0	0.0003	1.799e-05	0	5.801e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	4.409e-05	8.14e-06	5.14e-06	1.17e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.409e-05	0	0	0.321	0.13522	T	0.232	0.24987	T	0.0	0.02946	B	0.0	0.01387	B	0.004205	0.33991	N	0.316778	1	0.81001	D	-0.41	0.02942	N	-0.53	0.70833	T	-0.16	0.11547	N	0.316	0.35620	-1.0228	0.22802	T	0.106	0.38611	T	10	0.11730605	0.22151	T	0.010806	0.27768	T	0.090	0.26093	0.454	0.51775	0.790458859785	0.78851	0.28886776014372334	0.28799	0.413016077057	0.42023	0.457735449076	0.33000	T	0.071415	0.34201	T	-0.202043	0.20510	T	-0.346469	0.39609	T	0.0646915076766645	0.07885	T	0.761424	0.38629	T	0.061718598	0.12811	0.040844485	0.04506	0.061718598	0.12811	0.040844485	0.04505	-2.008	0.07286	T	.	.	0.054	0.00730	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.960902	0.24906	16.57	0.54225099813158728	0.05095	0.90602	0.51914	D	AEFBI	0.257218	0.37599	N	-0.593819323064507	0.19130	0.9988905	-0.399846885887266	0.25002	1.372395	0.00828904767641278	0.11646	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	3.3	0.36912	2.235000	0.42690	6.802000	0.56629	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.69:0.0:0.1535:0.1566	4.107	0.09513	525	0.74024	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1835.33	36	chr11	125644635	.	A	G	1835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=801;ExcessHet=0;FS=4.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-2.134;SOR=0.42	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1849,0,1621	18	0	1	0
chr11	129902329	129902329	T	C	exonic	PRDM10	.	nonsynonymous SNV	PRDM10:NM_199439:exon16:c.A3056G:p.H1019R,PRDM10:NM_001367898:exon17:c.A3197G:p.H1066R,PRDM10:NM_001367896:exon18:c.A2606G:p.H869R,PRDM10:NM_001367899:exon18:c.A3209G:p.H1070R,PRDM10:NM_199438:exon18:c.A3170G:p.H1057R,PRDM10:NM_001367895:exon19:c.A2567G:p.H856R,PRDM10:NM_001367897:exon19:c.A2618G:p.H873R,PRDM10:NM_001367890:exon20:c.A3107G:p.H1036R,PRDM10:NM_001367891:exon20:c.A3395G:p.H1132R,PRDM10:NM_001367894:exon20:c.A3068G:p.H1023R,PRDM10:NM_199437:exon21:c.A3455G:p.H1152R,PRDM10:NM_001367892:exon22:c.A3401G:p.H1134R,PRDM10:NM_001367893:exon22:c.A3428G:p.H1143R,PRDM10:NM_020228:exon22:c.A3467G:p.H1156R	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0261412537235	.	.	0.0005	0	8.637e-05	0	0	0	0.0011	0.0038	0.0004269	66	154602	rs567584353	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	0	0	2.519e-05	0	0.0005	1.259e-05	0.0003	0.0035	5.909e-05	5.905e-05	2.57e-05	9.398e-05	0.0017	3.075e-05	2.208e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.0	0.91255	D	0.006	0.70582	D	0.879	0.53761	P	0.494	0.50479	P	0.000000	0.84330	D	0.051474	0.999999	0.58761	D	.	.	.	2.18	0.32482	T	-1.69	0.40274	N	0.569	0.67995	-1.0641	0.10760	T	0.085	0.33071	T	10	0.013608426	0.00288	T	0.026141	0.49069	D	0.132	0.35948	.	.	0.0934897674506	0.08844	0.6623963974092498	0.66176	0.539597992946	0.51187	0.698578238487	0.66938	T	.	.	.	-0.331656	0.05987	T	-0.25065	0.49752	T	0.0946466404947882	0.11757	T	0.938606	0.83962	D	.	.	.	.	.	.	.	.	-4.857	0.35351	T	.	.	0.222	0.52768	B	.;.;.;.;.;.	.;.;.;.;.;.	3.490530	0.48788	22.7	0.99777972424083106	0.86519	0.98165	0.80163	D	AEFBI	0.708983	0.66322	D	0.358621718872685	0.59196	4.097068	0.445473292150961	0.64426	4.697605	0.999985579089264	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	5.029000	0.63903	6.179000	0.54604	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.807000	0.38039	0.0:0.0:0.0:1.0	15.556	0.75935	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1495.33	50	chr11	129902329	.	T	C	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.495;DP=893;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.962;SOR=0.807	GT:AD:DP:GQ:PL	0/1:81,64:145:99:1509,0,2174	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,31:74:99:0|1:4591261_G_C:320,0,733:4591261	5	0	14	0
chr12	6011720	6011720	C	G	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon34:c.G5739C:p.K1913N	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0327900886189	.	.	9.561e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs753735116	5.063e-05	5.062e-05	2.723e-05	7.427e-05	0.0008	4.126e-05	3.779e-05	0.0006	0.0006	0	2.237e-05	0	0	0	0	8.994e-07	4.97e-05	0.0008	6.571e-06	6.566e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.08	0.33585	T	0.064	0.44905	T	0.0	0.02946	B	0.001	0.04355	B	0.934028	0.08400	N	0.961113	0.967414	0.25849	N	0.92	0.23413	L	1.24	0.36691	T	-0.6	0.17834	N	0.161	0.16864	-1.0701	0.09391	T	0.079	0.31435	T	10	0.06877461	0.09775	T	0.03279	0.54518	D	0.080	0.23350	0.328	0.31196	0.353974658523	0.35008	0.5667951632711749	0.56607	0.314614938992	0.33745	0.283397555351	0.07971	T	0.280974	0.65369	T	-0.576228	0.00203	T	-0.682272	0.06846	T	0.0487295351922512	0.05275	T	0.528347	0.17454	T	0.13985209	0.32289	0.062144067	0.12111	0.13985209	0.32289	0.062144067	0.12110	-3.921	0.22617	T	0.10457413362778936	0.08195	0.154	0.34116	B	.	.	2.082415	0.26487	17.13	0.99284123865464036	0.58008	0.90646	0.51995	D	AEFGBI	0.520247	0.54518	D	-0.409313532718587	0.25141	1.36263	-0.336487163282305	0.26930	1.490869	0.416781179308542	0.20258	0.722319	0.85440	0	0.563428	0.19063	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.03	1.07	0.19399	1.775000	0.38213	0.102000	0.14662	0.599000	0.40250	1.000000	0.71638	0.015000	0.20450	0.689000	0.33808	0.2979:0.552:0.0:0.1501	5.733	0.17320	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	857.33	33	chr12	6011720	.	C	G	857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.487;DP=692;ExcessHet=0;FS=2.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.14;MQRankSum=-0.123;QD=12.99;ReadPosRankSum=0.424;SOR=0.959	GT:AD:DP:GQ:PL	0/1:31,35:66:99:871,0,737	18	0	1	0
chr12	6960710	6960710	G	A	exonic	PTPN6	.	nonsynonymous SNV	PTPN6:NM_080549:exon15:c.G1721A:p.R574Q	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00499201	0.0065	0.0005	0.0024	0	0	0	0	0.0173	0.001216	188	154602	rs781863006	0.0011	0.0011	0.0006	0.0015	0.0173	0.0010	0.0010	0.0166	0.0163	0.0002	0	0	0	0	0.0012	3.429e-05	0.0014	0.0173	0.0007	0.0007	0.0005	0.0008	0.0201	0.0006	0.0005	0.0169	0.0157	0	0	0	0	0	0	0	4.412e-05	0.0005	0.0201	0.144	0.25255	T	0.589	0.08245	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	2.6	0.13204	T	-0.18	0.09796	N	0.147	0.14905	-0.9280	0.44429	T	0.014	0.05465	T	9	0.0028401017	0.00045	T	.	.	.	0.010	0.01040	0.205	0.12076	0.20808081866	0.20439	0.1395622044925356	0.13879	0.120423767065	0.13557	.	.	.	.	.	.	-0.761099	0.00015	T	-0.851762	0.00938	T	0.00449807220540193	0.00048	T	0.352865	0.07937	T	.	.	.	.	.	.	.	.	-4.528	0.31253	T	.	.	0.100	0.16973	B	.	.	0.711370	0.10804	7.485	0.81483599477862245	0.13708	0.00615	0.02724	N	AEFDGBHCI	0.041538	0.06330	N	-1.22432418178089	0.04649	0.2102838	-1.26064201483347	0.04975	0.2359953	0.999999974347505	0.74766	0.608966	0.35542	0	0.52208	0.09955	0	0.769059	0.98459	0	0.584449	0.35598	0	.	.	3.74	-1.24	0.08948	-0.104000	0.10893	0.825000	0.21891	0.526000	0.24426	0.002000	0.15269	0.003000	0.18671	0.039000	0.14166	0.0:0.3111:0.3712:0.3177	6.307	0.20352	466	0.78352	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001870	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004630	0.02632	1816.33	38	chr12	6960710	.	G	A	1816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=772;ExcessHet=0;FS=1.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.42;SOR=0.92	GT:AD:DP:GQ:PL	0/1:46,62:108:99:1830,0,986	18	0	1	0
chr12	6970261	6970261	G	A	exonic	PHB2	.	unknown	UNKNOWN	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.000798722	0.0005	0	0	0	0	0	0	0.0039	0.0004398	68	154602	rs377244216	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0.0002	6.296e-06	0.0004	0.0031	0.0001	0.0001	0.0001	0.0001	0.0039	8.656e-05	7.249e-05	0.0026	0.0021	0	0	0	0	0	0	0	1.47e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1917.33	44	chr12	6970261	.	G	A	1917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=942;ExcessHet=0;FS=4.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-1.283;SOR=0.824	GT:AD:DP:GQ:PL	0/1:69,74:143:99:1931,0,1772	18	0	1	0
chr12	8519028	8519028	T	A	exonic	CLEC4D	.	stopgain	CLEC4D:NM_080387:exon4:c.T252A:p.C84X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162997976	1.163e-05	1.163e-05	1.498e-05	8.252e-06	0.0002	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	3.312e-05	0	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.848	0.84401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.041256	0.96069	35	0.98896511490065442	0.48109	0.36876	0.25634	N	AEFGBI	0.137627	0.25868	N	0.107798794739267	0.46826	2.917139	-0.175831761658907	0.32428	1.844796	0.984197994286505	0.30679	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.5	-0.588	0.11101	-0.312000	0.08153	-0.124000	0.11690	0.507000	0.23093	0.600000	0.27747	0.874000	0.27626	0.862000	0.40904	0.0:0.3934:0.0:0.6066	7.574	0.27091	964	0.07719	.;C-type lectin-like|CD209-like, C-type lectin-like 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	.	.	.	.	.	.	.	.	0.02632	1631.33	33	chr12	8519028	.	T	A	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=761;ExcessHet=0;FS=3.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.838;SOR=0.988	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1645,0,1489	18	0	1	0
chr12	9104376	9104376	C	T	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon10:c.G679A:p.V227I,A2M:NM_000014:exon11:c.G1129A:p.V377I,A2M:NM_001347424:exon11:c.G829A:p.V277I,A2M:NM_001347423:exon12:c.G1129A:p.V377I	Alpha-2-macroglobulin deficiency, Autosomal dominant	1	1514	7	0	0	7	0.00230643	.	.	.	3208345	A2M-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00610910811833	0.0003	.	0.0008	0	0.0015	0	0	0.0010	0	0.0007	0.0004075	63	154602	rs200364039	0.0003	0.0003	0.0003	0.0004	0.0052	0.0003	0.0003	0.0038	0.0033	0.0002	0.0004	0.0060	0.0003	0	0.0052	0.0001	0.0008	0.0006	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	8.882e-05	5.995e-05	9.654e-05	0	0.0003	0.0063	0.0002	0	0.0032	0.0001	0.0010	0.0004	0.193	0.20912	T	0.195	0.28032	T	0.051	0.22415	B	0.006	0.12133	B	0.860785	0.07115	N	1.067870	1	0.08975	N	1.19	0.30124	L	1.64	0.27822	T	-0.75	0.21003	N	0.06	0.03175	-1.0036	0.28874	T	0.068	0.27947	T	10	0.00984329	0.00221	T	0.006109	0.15993	T	0.045	0.12272	.	.	0.412849826617	0.40899	0.2124319914020271	0.21159	0.169457466706	0.19097	0.255848973989	0.04408	T	0.118097	0.43866	T	-0.639633	0.00084	T	-0.794654	0.02039	T	0.00794266102295663	0.00094	T	0.621638	0.23898	T	0.060083512	0.12286	0.07024254	0.14899	0.060083512	0.12285	0.07024254	0.14899	-4.316	0.28400	T	.	.	0.074	0.05274	B	.	.	0.292536	0.06685	3.191	0.94141744831731855	0.24332	0.06874	0.12899	N	AEFBCI	0.220291	0.34506	N	-0.845867598699663	0.12151	0.5905871	-0.882730217418525	0.12503	0.6435131	0.107744503476757	0.16564	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.87	0.749	0.17530	-0.591000	0.05848	-1.520000	0.05255	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.242000	0.23054	0.0:0.5855:0.0:0.4145	8.160	0.30356	538	0.73119	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004550	0.005051	0.002717	0.011765	0.000000	0.017241	0.000000	0.003788	0.02632	1324.33	41	chr12	9104376	.	C	T	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=745;ExcessHet=0;FS=1.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-2.152;SOR=0.483	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1338,0,1178	18	0	1	0
chr12	9832369	9832369	G	A	exonic	KLRF1	.	nonsynonymous SNV	KLRF1:NM_001291822:exon2:c.G139A:p.V47M,KLRF1:NM_001291823:exon2:c.G139A:p.V47M,KLRF1:NM_001366534:exon2:c.G139A:p.V47M,KLRF1:NM_016523:exon2:c.G139A:p.V47M	.	446	1012	61	3	0	67	0.0320421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00738818	0.0077	0.0007	0.0068	0	0.0005	0.0049	0.0078	0.0301	0.0068175	1054	154602	rs146460124	0.0046	0.0047	0.0036	0.0056	0.0321	0.0045	0.0045	0.0311	0.0307	0.0007	0.0060	0.0077	7.582e-05	0.0003	0.0205	0.0027	0.0055	0.0321	0.0039	0.0039	0.0036	0.0042	0.0327	0.0036	0.0035	0.0285	0.0270	0.0009	0.0011	0.0060	0.0081	0.0002	0.0004	0.0102	0.0038	0.0057	0.0327	0.175	0.25768	T	0.191	0.49120	T	0.113	0.26349	B	0.033	0.22329	B	0.722462	0.06322	N	1.214770	1	0.08975	N	0.805	0.20218	L	0.4	0.57261	T	-1.72	0.40850	N	0.161	0.22228	-1.0634	0.10926	T	0.059	0.24612	T	9	0.0059431195	0.00133	T	.	.	.	0.025	0.05312	.	.	0.171388866994	0.16791	0.2775677312493388	0.27669	.	.	0.29831263423	0.10151	T	0.02985	0.21296	T	-0.585658	0.00178	T	-0.591036	0.13576	T	0.000816321794284554	0.00008	T	0.69743	0.30707	T	.	.	.	.	.	.	.	.	-4.949	0.36281	T	.	.	0.098	0.20038	B	.;.;.;.;.	.;.;.;.;.	0.062193	0.04727	1.359	0.08633522959055194	0.00071	0.00566	0.02572	N	AEFBI	0.044400	0.07140	N	-1.68846938339769	0.00883	0.03823578	-1.7559330760471	0.00911	0.04075757	6.07512311615335E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.04	-2.27	0.06458	-0.693000	0.05222	-0.056000	0.12484	-1.591000	0.00906	0.003000	0.16062	0.005000	0.19230	0.025000	0.12405	0.296:0.2805:0.4235:0.0	5.229	0.14730	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024194	0.010101	0.017663	0.020468	0.000000	0.025862	0.033742	0.034091	0.07895	2308.79	33	chr12	9832369	.	G	A	2308.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.118;DP=759;ExcessHet=0.3672;FS=1.085;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.652;SOR=0.793	GT:AD:DP:GQ:PL	0/1:41,30:71:99:657,0,897	16	0	3	0
chr12	10809772	10809772	A	G	exonic	TAS2R9	.	nonsynonymous SNV	TAS2R9:NM_023917:exon1:c.T304C:p.C102R	.	425	1096	1	0	0	1	0.000455996	.	.	.	2440907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.00310325746879	.	.	0.0002	0	0	0	0	6.007e-05	0	0.0013	0.0001682	26	154602	rs766840521	0.0001	0.0001	8.033e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	2.24e-05	0	0	0	0.0005	5.126e-05	0.0001	0.0013	3.944e-05	3.94e-05	3.855e-05	4.038e-05	0.0004	1.716e-05	1.13e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	5.882e-05	0	0.0004	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.010607	0.29855	U	0.201917	0.999882	0.19853	N	3.02	0.86243	M	1.14	0.38397	T	-9.21	0.98250	D	0.412	0.45237	-0.8050	0.54849	T	0.264	0.63490	T	10	0.26241052	0.43709	T	0.003103	0.06726	T	0.103	0.29403	.	.	0.481172606772	0.47747	0.3118265120671581	0.31095	0.0459309199276	0.04987	0.358314812183	0.19139	T	0.110878	0.42592	T	-0.358605	0.04209	T	-0.328421	0.41645	T	0.355303487014839	0.27226	T	.	.	.	0.8840537	0.90003	0.8949926	0.94621	0.8840537	0.90005	0.8949926	0.94621	-7.382	0.56778	T	.	.	0.854	0.79965	P	.	.	2.447264	0.31507	18.76	0.97372279412855833	0.33627	0.07634	0.13642	N	AEFBI	0.101951	0.20463	N	-0.0288565552717507	0.40552	2.41018	-0.366365463056316	0.26008	1.433802	1.5107415818941E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.63	1.12	0.19700	0.799000	0.26688	-3.706000	0.02591	0.666000	0.68947	0.003000	0.16062	0.000000	0.08366	0.056000	0.15673	0.6357:0.1856:0.0:0.1787	5.132	0.14249	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2214.33	35	chr12	10809772	.	A	G	2214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.389;DP=845;ExcessHet=0;FS=1.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.14;SOR=0.83	GT:AD:DP:GQ:PL	0/1:79,87:166:99:2228,0,2194	18	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	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	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.2105	2125.21	110	chr12	10930916	.	C	T	2125.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.6;DP=1538;ExcessHet=4.0268;FS=15.864;InbreedingCoeff=-0.2666;MLEAC=8;MLEAF=0.211;MQ=41.25;MQRankSum=0.943;QD=2.77;ReadPosRankSum=-0.264;SOR=2.412	GT:AD:DP:GQ:PL	0/1:92,16:108:99:218,0,2785	11	0	8	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22281.8	162	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	22281.8	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.9;DP=5175;ExcessHet=0.0003;FS=2.74;InbreedingCoeff=0.226;MLEAC=11;MLEAF=0.55;MQ=48.16;MQRankSum=-0.585;QD=23.73;ReadPosRankSum=-3.175;SOR=0.801	GT:AD:DP:GQ:PL	1/1:15,189:204:99:5520,515,0	5	3	2	9
chr12	13211542	13211542	T	G	exonic	EMP1	.	nonsynonymous SNV	EMP1:NM_001423:exon2:c.T32G:p.V11G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.265417233147	.	0.00159744	0.0012	0.0002	0.0059	0	0	0.0011	0	0.0003	0.0010608	164	154602	rs147282605	0.0012	0.0012	0.0012	0.0011	0.0041	0.0011	0.0011	0.0036	0.0035	0.0004	0.0041	3.827e-05	0	3.744e-05	0.0028	0.0012	0.0014	0.0004	0.0010	0.0010	0.0011	0.0009	0.0031	0.0008	0.0008	0.0024	0.0021	0.0003	0	0.0031	0	0	0	0.0034	0.0012	0.0019	0.0002	0.006	0.78490	D	0.009	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000536	0.43581	D	0.237292	1	0.81001	D	2.96	0.85114	M	-2.48	0.89071	D	-4.21	0.81985	D	0.442	0.60749	0.614	0.92076	D	0.803	0.93340	D	10	0.023023903	0.00591	T	0.265417	0.89673	D	0.764	0.92004	.	.	0.974378769274	0.97409	0.8690739417242321	0.86872	0.811444316157	0.66751	0.549664616585	0.45811	T	0.712728	0.91819	D	0.073392	0.61259	D	0.331173	0.89557	D	0.0873188312165031	0.10897	T	0.692631	0.33984	T	0.4240009	0.62357	0.59048384	0.76239	0.4240009	0.62357	0.59048384	0.76240	-7.675	0.58834	D	.	.	0.545	0.70130	A	.;.;.;.	.;.;.;.	4.151955	0.62284	24.4	0.98955195339616286	0.49208	0.92281	0.55351	D	AEFDGBCI	0.873045	0.79520	D	0.712245982466469	0.80436	7.293597	0.713503925572113	0.83404	8.012705	0.999999999999995	0.74766	0.730579	0.87903	0	0.627178	0.54094	0	0.527494	0.11647	0	0.648885	0.59868	0	.	.	6.16	6.16	0.99302	4.828000	0.62420	3.487000	0.38689	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.806	0.85530	733	0.53988	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.003788	0.05263	3842.83	39	chr12	13211542	.	T	G	3842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.88;DP=845;ExcessHet=0.119;FS=10.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=0.836;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,58:138:99:0|1:13211542_T_G:2174,0,3144:13211542	17	0	2	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,29:57:99:.:.:181,0,429:.	2	0	16	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:918,67:986:99:.:.:782,0,38249:.	8	0	11	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:910,79:990:99:.:.:1290,0,37450:.	11	0	8	0
chr12	48660458	48660458	C	T	exonic	KANSL2	.	nonsynonymous SNV	KANSL2:NM_017822:exon8:c.G1135A:p.V379M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0348609923297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.039	0.51112	D	0.996	0.68779	D	0.931	0.66596	D	0.000466	0.44119	D	0.192669	0.951107	0.81001	D	0.805	0.20218	L	1.3	0.35590	T	-0.14	0.09135	N	0.393	0.43417	-0.8725	0.50341	T	0.188	0.53812	T	10	0.23360261	0.40382	T	0.034861	0.55958	D	0.115	0.32236	0.204	0.11936	0.331876078066	0.32801	0.27392713795241186	0.27305	1.01416887604	0.74877	0.744563817978	0.73643	T	0.017187	0.14063	T	-0.126513	0.32061	T	-0.419503	0.31132	T	0.737727498532262	0.42615	D	0.940706	0.77799	D	0.0885309	0.20655	0.08770444	0.20404	0.0885309	0.20654	0.08770444	0.20403	-4.947	0.36259	T	.	.	0.128	0.27283	B	.;.	.;.	4.524125	0.70963	25.6	0.9975117738457181	0.84305	0.98056	0.79226	D	AEFBI	0.645705	0.62150	D	0.483288542753927	0.66114	4.908482	0.539686551170747	0.70683	5.541349	0.889934846232813	0.25824	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	5.514000	0.66760	7.590000	0.61220	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.015	0.89158	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2962.33	33	chr12	48660458	.	C	T	2962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.86;DP=822;ExcessHet=0;FS=1.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.456;SOR=0.556	GT:AD:DP:GQ:PL	0/1:78,115:193:99:2976,0,2031	18	0	1	0
chr12	48776246	48776246	A	G	exonic	ADCY6	.	nonsynonymous SNV	ADCY6:NM_015270:exon8:c.T1640C:p.I547T	.	63	1441	18	0	0	18	0.0062069	.	.	.	725113	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.911	.	0.0022	0.00359425	0.0035	0.0006	0.0011	0	0.0005	0.0028	0.0033	0.0130	0.0033247	514	154602	rs143114060	0.0033	0.0033	0.0030	0.0037	0.0131	0.0033	0.0032	0.0125	0.0123	0.0006	0.0011	0.0006	0	0.0006	0.0062	0.0031	0.0030	0.0131	0.0024	0.0024	0.0023	0.0026	0.0122	0.0022	0.0022	0.0097	0.0088	0.0008	0.0164	0.0018	0.0009	0	0.0008	0	0.0033	0.0014	0.0122	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.79672	D	0.000470	0.44119	D	0.141057	1	0.81001	D	2.625	0.76847	M	-1.93	0.84842	D	-4.25	0.76414	D	0.976	0.98840	0.528	0.90932	D	0.708	0.89951	D	10	0.022234172	0.00550	T	.	.	.	0.911	0.97624	.	.	0.970207164534	0.96988	0.8767929921298814	0.87646	1.08563880484	0.77273	0.711991071701	0.68882	T	0.841054	0.96293	D	0.115786	0.65946	D	0.404573	0.92261	D	0.0417149374962842	0.04002	T	0.989001	0.96320	D	0.44159785	0.63505	0.48273897	0.70051	0.441327	0.63488	0.49944356	0.71060	-11.022	0.79779	D	0.8774340125879654	0.93625	0.700	0.72971	P	.;.;.	.;.;.	4.906929	0.80697	27.4	0.99835523555506422	0.91628	0.98756	0.86450	D	AEFDGBI	0.943737	0.94995	D	0.676368237402782	0.78085	6.800873	0.612517382517976	0.75850	6.383716	0.999999995425091	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.0	4.0	0.45673	9.252000	0.94679	9.313000	0.79976	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.319	0.54298	506	0.75555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.014620	0.050000	0.000000	0.006098	0.007576	0.05263	3440.83	41	chr12	48776246	.	A	G	3440.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.18;DP=913;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.717;SOR=0.668	GT:AD:DP:GQ:PL	0/1:86,62:148:99:1558,0,2174	17	0	2	0
chr12	50167240	50167240	G	A	exonic	CERS5	.	nonsynonymous SNV	CERS5:NM_001331070:exon1:c.C58T:p.R20C,CERS5:NM_001331071:exon1:c.C58T:p.R20C,CERS5:NM_147190:exon1:c.C58T:p.R20C	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	.	0.0041	0.00179712	0.0050	0.0011	0.0020	0	0.0146	0.0069	0.0111	0.0010	0.0046959	726	154602	rs143484198	0.0066	0.0066	0.0068	0.0064	0.0074	0.0065	0.0064	0.0072	0.0072	0.0008	0.0021	0.0041	0	0.0145	0.0005	0.0074	0.0056	0.0010	0.0048	0.0048	0.0044	0.0053	0.0069	0.0046	0.0044	0.0064	0.0062	0.0010	0	0.0019	0.0049	0	0.0159	0	0.0069	0.0033	0.0010	0.001	0.78490	D	0.009	0.66756	D	0.998	0.73220	D	0.836	0.59919	P	0.000002	0.62929	D	0.056281	0.999994	0.81001	D	2.59	0.75718	M	-1.6	0.82165	D	-4.2	0.75695	D	0.611	0.62781	0.167	0.85343	D	0.581	0.84915	D	10	0.0111991465	0.00246	T	.	.	.	0.683	0.88396	.	.	0.858982934815	0.85761	0.7218436396535616	0.72128	1.16102251393	0.79485	0.905197739601	0.96996	D	0.473842	0.80554	T	-0.104833	0.35624	T	0.082188	0.75723	D	0.0336735412076743	0.02583	T	0.981319	0.94749	D	0.4527413	0.64215	0.4742083	0.69527	0.4527413	0.64216	0.4742083	0.69527	-8.345	0.63398	D	.	.	0.370	0.57847	A	.;.	.;.	4.641698	0.73902	26.1	0.9987870641990455	0.95491	0.57530	0.30401	D	AEFBHCIJ	0.613918	0.60143	D	0.428353578924197	0.62986	4.524008	0.285333461132114	0.54683	3.632494	0.999999970740119	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.39	1.5	0.22029	2.958000	0.48838	5.719000	0.49462	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.09:0.0:0.7518:0.1582	7.987	0.29379	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	477.33	36	chr12	50167240	.	G	A	477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.056;DP=685;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.462;SOR=0.973	GT:AD:DP:GQ:PL	0/1:21,22:43:99:491,0,477	18	0	1	0
chr12	51765852	51765852	A	G	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon16:c.A2726G:p.N909S,SCN8A:NM_001330260:exon16:c.A2726G:p.N909S,SCN8A:NM_001369788:exon16:c.A2726G:p.N909S,SCN8A:NM_014191:exon16:c.A2726G:p.N909S	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	2099699	Developmental_and_epileptic_encephalopathy|not_provided	MONDO:MONDO:0100620,MedGen:C5779964|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.354	0.0592114194369	.	.	8.255e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs776493877	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.008	0.14655	B	0.016	0.17743	B	0.000028	0.55875	N	0.156333	0.638915	0.30633	N	-1.095	0.01012	N	-4.86	0.98263	D	1.3	0.01166	N	0.129	0.13484	0.100	0.84165	D	0.698	0.89587	D	10	0.07438043	0.11362	T	0.059211	0.67586	D	0.354	0.67510	0.497	0.58678	0.552850462401	0.54942	0.8482593398667344	0.84786	1.43513484205	0.85872	0.557674646378	0.46939	T	0.549538	0.84722	D	-0.0308198	0.47298	T	-0.282047	0.46595	T	0.0459325629837237	0.04771	T	0.910209	0.68443	D	0.025065795	0.01403	0.04807537	0.07062	0.025065795	0.01402	0.04807537	0.07062	-0.379	0.00548	T	0.04847358324312268	0.00752	0.056	0.00478	B	.;.;.;.;.	.;.;.;.;.	2.552722	0.33047	19.22	0.24234837832897135	0.01062	0.84217	0.43300	D	AEFBI	0.222483	0.34697	N	-0.645378019210941	0.17595	0.9067356	-0.40948380170743	0.24719	1.355196	0.321255425722644	0.19387	0.706548	0.73137	0	0.563428	0.19063	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	4.66	3.47	0.38831	2.182000	0.42186	4.148000	0.42131	0.756000	0.94297	0.987000	0.36337	1.000000	0.68203	0.999000	0.91618	0.9261:0.0:0.0738:0.0	11.277	0.48407	623	0.65786	Ion transport domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1945.33	33	chr12	51765852	.	A	G	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=836;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.846;SOR=0.751	GT:AD:DP:GQ:PL	0/1:96,74:170:99:1959,0,2645	18	0	1	0
chr12	52185547	52185547	C	T	exonic	KRT80	.	nonsynonymous SNV	KRT80:NM_001081492:exon2:c.G341A:p.R114H,KRT80:NM_182507:exon2:c.G341A:p.R114H	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.0615781536099	0.0012	0.000798722	0.0017	0.0002	0.0003	0	0.0034	0.0016	0.0011	0.0048	0.0015071	233	154602	rs140694010	0.0015	0.0015	0.0015	0.0016	0.0040	0.0015	0.0014	0.0037	0.0035	0.0003	0.0005	0.0028	2.519e-05	0.0031	0.0038	0.0013	0.0017	0.0040	0.0012	0.0012	0.0011	0.0013	0.0037	0.0011	0.0010	0.0024	0.0020	0.0001	0.0022	0.0003	0.0012	0	0.0053	0.0034	0.0014	0.0028	0.0037	0.0	0.91255	D	0.013	0.63918	D	1.0	0.90584	D	0.938	0.70837	D	0.001421	0.39044	N	0.000000	0.525183	0.31930	D	1.845	0.48678	L	-2.54	0.89496	D	-3.09	0.63438	D	0.223	0.25867	0.253	0.86787	D	0.618	0.86539	D	10	0.014934212	0.00314	T	0.061578	0.68375	D	0.431	0.73735	.	.	0.71071307219	0.70818	0.4412763705325972	0.44044	0.176704391876	0.19884	0.433360755444	0.29668	T	0.434785	0.78175	T	-0.279285	0.10743	T	-0.174095	0.57067	T	0.0296343666567351	0.01933	T	0.79912	0.45710	T	0.35676637	0.57589	0.28712946	0.54723	0.35676637	0.57590	0.28712946	0.54722	-7.121	0.54911	T	.	.	0.149	0.32922	B	.;.	.;.	3.635006	0.51511	23.1	0.99922515138555645	0.98852	0.21630	0.21469	N	AEFDGBCI	0.103537	0.20740	N	0.0522996902005439	0.44248	2.702347	0.0324723964172609	0.41233	2.473753	0.999998930341393	0.74766	0.50712	0.20391	0	0.59043	0.45803	0	0.491513	0.07944	0	0.635259	0.50027	0	.	.	5.08	3.27	0.36580	0.369000	0.20149	.	.	0.599000	0.40250	0.075000	0.22209	1.000000	0.68203	0.993000	0.69303	0.0:0.6483:0.0:0.3517	6.453	0.21116	337	0.86119	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	813.33	33	chr12	52185547	.	C	T	813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=681;ExcessHet=0;FS=2.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.711;SOR=0.379	GT:AD:DP:GQ:PL	0/1:31,31:62:99:827,0,700	18	0	1	0
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	.	.	.	.	.	.	.	.	0.05556	293.51	64	chr12	52385056	.	G	C	293.51	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.699;DP=1326;ExcessHet=0.119;FS=555.56;InbreedingCoeff=-0.1115;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=1.43;SOR=7.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,26:125:99:.:.:183,0,3341:.	16	0	2	1
chr12	56101591	56101593	GAA	-	exonic	ERBB3	.	nonframeshift deletion	ERBB3:NM_001982:exon28:c.3565_3567del:p.E1191del	Lethal congenital contractural syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	513613	not_provided|Lethal_congenital_contracture_syndrome_1	MedGen:C3661900|MONDO:MONDO:0009670,MedGen:C1854664,OMIM:253310,Orphanet:1486	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	7.413e-05	9.61e-05	0	0.0001	0	8.991e-05	0	6.056e-05	5.82e-05	9	154602	rs780883720	6.43e-05	6.43e-05	5.717e-05	7.15e-05	0.0001	5.361e-05	4.976e-05	5.804e-05	4.484e-05	2.987e-05	0.0001	0	0.0001	0.0001	0	6.115e-05	6.623e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0001	6.518e-05	5.328e-05	4.747e-05	3.059e-05	0.0001	0	6.552e-05	0	0	0.0004	0	8.821e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2354.29	38	chr12	56101590	.	TGAA	T	2354.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.46;DP=859;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.02;ReadPosRankSum=-1.491;SOR=0.758	GT:AD:DP:GQ:PL	0/1:50,62:112:99:2368,0,1910	18	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	296.73	32	chr12	56716773	.	G	C	296.73	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.781;DP=1467;ExcessHet=2.9153;FS=130.34;InbreedingCoeff=-0.2316;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.525;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,19:99:61:.:.:61,0,1535:.	11	0	7	1
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	247.04	57	chr12	70635944	.	G	A	247.04	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.741;DP=1270;ExcessHet=1.3;FS=174.484;InbreedingCoeff=-0.3061;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.39;SOR=10.364	GT:AD:DP:GQ:PL	0/1:43,21:71:46:46,0,926	7	0	5	7
chr12	76030754	76030754	G	C	exonic	PHLDA1	.	nonsynonymous SNV	PHLDA1:NM_007350:exon1:c.C988G:p.Q330E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.295840032442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.134	0.36101	T	0.055	0.22733	B	0.038	0.23361	B	0.036158	0.24557	N	0.254138	0.938056	0.26874	N	1.905	0.50856	L	-1.41	0.80560	T	-0.29	0.11728	N	0.231	0.28264	-0.4592	0.70094	T	0.381	0.73766	T	10	0.2138386	0.37888	T	0.29584	0.90719	D	0.315	0.63694	0.265	0.21103	0.639084873237	0.63611	0.07507180286224341	0.07443	0.683597874997	0.60172	0.521913588047	0.41896	T	0.029922	0.21330	T	-0.0491695	0.44574	T	-0.308405	0.43829	T	0.274806290864944	0.23952	T	0.840716	0.54193	T	0.16211261	0.36266	0.22878087	0.47930	0.16211261	0.36266	0.22878087	0.47928	-8.578	0.64944	D	.	.	0.143	0.31406	B	.;.;.	.;.;.	2.030332	0.25802	16.89	0.97910314408338806	0.36808	0.19107	0.20530	N	AEFDBHCI	0.236234	0.35871	N	-0.331552412303994	0.27955	1.53801	-0.266871633405572	0.29196	1.633856	0.999999999999497	0.74766	0.441713	0.08003	0	0.435331	0.06439	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.62	4.62	0.56946	0.470000	0.21795	6.990000	0.57158	0.590000	0.31872	0.000000	0.06391	1.000000	0.68203	0.077000	0.17074	0.0:0.0:1.0:0.0	15.783	0.78047	838	0.37812	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1501.33	38	chr12	76030754	.	G	C	1501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.967;DP=866;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=1.38;SOR=0.758	GT:AD:DP:GQ:PL	0/1:49,61:110:99:1515,0,1231	18	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T,NAP1L1:NM_001307924:exon6:c.T425C:p.I142T,NAP1L1:NM_001330231:exon6:c.T425C:p.I142T,NAP1L1:NM_004537:exon6:c.T425C:p.I142T,NAP1L1:NM_139207:exon6:c.T425C:p.I142T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	141.02	37	chr12	76059802	.	A	G	141.02	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.783;DP=1177;ExcessHet=0.3672;FS=203.377;InbreedingCoeff=-0.1169;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.53;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,20:98:99:0|1:76059802_A_G:126,0,2440:76059802	14	0	3	2
chr12	82896304	82896304	G	A	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.G406A:p.V136I,TMTC2:NM_001320322:exon3:c.G1141A:p.V381I,TMTC2:NM_152588:exon3:c.G1141A:p.V381I	.	429	1014	75	4	0	83	0.0393179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0055	0.0115815	0.0112	0.0010	0.0031	0	0.0056	0.0089	0.0132	0.0408	0.0102715	1588	154602	rs35725509	0.0081	0.0081	0.0070	0.0093	0.0393	0.0080	0.0080	0.0382	0.0378	0.0012	0.0033	0.0130	7.557e-05	0.0046	0.0355	0.0063	0.0085	0.0393	0.0066	0.0066	0.0061	0.0071	0.0455	0.0062	0.0061	0.0405	0.0386	0.0013	0	0.0056	0.0130	0	0.0050	0.0272	0.0076	0.0071	0.0455	0.445	0.09600	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.04355	B	0.893502	0.07310	N	1.043000	1	0.08975	N	-0.14	0.04484	N	0.77	0.61089	T	-0.11	0.09135	N	0.031	0.03392	-1.0100	0.26917	T	0.067	0.27674	T	10	0.0032096207	0.00054	T	.	.	.	0.089	0.25827	.	.	.	.	0.4571219011695271	0.45630	0.120313219127	0.13549	0.259975850582	0.04888	T	0.001475	0.07715	T	-0.57472	0.00207	T	-0.569046	0.15538	T	0.00167859473731369	0.00017	T	0.385361	0.09439	T	0.029437745	0.02440	0.030641649	0.01546	0.029437745	0.02440	0.030641649	0.01546	-3.77	0.20357	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	0.634495	0.10029	6.781	0.79113060385662604	0.12596	0.32747	0.24661	N	AEFBCI	0.178763	0.30603	N	-0.971895891915682	0.09207	0.434826	-0.862844228796074	0.12979	0.6707715	0.0213079614217698	0.13337	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.86	4.98	0.65679	1.657000	0.36981	2.077000	0.30474	-0.667000	0.04321	0.023000	0.19925	0.033000	0.21346	0.102000	0.18378	0.1418:0.0:0.7159:0.1423	6.911	0.23515	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028701	0.005051	0.024457	0.043860	0.000000	0.068966	0.024390	0.018939	0.02632	2792.33	34	chr12	82896304	.	G	A	2792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.319;DP=836;ExcessHet=0;FS=1.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.81;SOR=0.609	GT:AD:DP:GQ:PL	0/1:81,104:185:99:2806,0,2147	18	0	1	0
chr12	84861780	84861780	G	A	exonic	SLC6A15	.	nonsynonymous SNV	SLC6A15:NM_001146335:exon11:c.C1724T:p.P575L,SLC6A15:NM_182767:exon12:c.C2045T:p.P682L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0297094916601	.	.	2.472e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs528847039	6.841e-06	6.84e-06	5.445e-06	8.251e-06	0.0002	3.46e-06	2.52e-06	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0.0002	4.497e-06	1.656e-05	2.319e-05	1.972e-05	1.969e-05	0	4.035e-05	1.471e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0068	1.471e-05	0	0	0.001	0.78490	D	0.006	0.72224	D	0.239	0.30839	B	0.094	0.30180	B	0.099114	0.19949	N	0.581510	0.999925	0.81001	D	2.19	0.61577	M	-0.8	0.75911	T	-2.56	0.57599	D	0.158	0.39861	-0.5541	0.66630	T	0.312	0.68229	T	10	0.2849264	0.46075	T	0.029709	0.52165	D	0.295	0.61502	0.401	0.43081	0.834584125371	0.83301	0.6104882319211863	0.60980	0.323843627622	0.34541	0.316164851189	0.12840	T	0.480456	0.80944	T	-0.107756	0.35138	T	-0.295706	0.45175	T	0.550360321998596	0.34491	D	0.963804	0.86607	D	0.08366726	0.19330	0.11992766	0.28944	0.08366726	0.19329	0.11992766	0.28943	-3.496	0.16375	T	.	.	0.127	0.26886	B	.;.	.;.	3.399249	0.47096	22.4	0.97020224906884511	0.32022	0.99011	0.89930	D	AEFBI	0.878115	0.80317	D	0.0464201272380443	0.43976	2.680332	0.112084492214756	0.45165	2.784629	0.978955676342942	0.29975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	9.444000	0.96751	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:0.8571:0.1428	14.943	0.70661	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2214.33	33	chr12	84861780	.	G	A	2214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=772;ExcessHet=0;FS=1.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.581;SOR=0.81	GT:AD:DP:GQ:PL	0/1:72,83:155:99:2228,0,1740	18	0	1	0
chr12	85056465	85056465	G	A	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.G1672A:p.G558R	.	451	1063	8	0	0	8	0.00374883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0157574476127	0.0037	0.00259585	0.0038	0.0012	0.0030	0	0.0029	0.0049	0.0045	0.0041	0.0037128	574	154602	rs140862066	0.0046	0.0046	0.0046	0.0045	0.0073	0.0045	0.0044	0.0056	0.0050	0.0011	0.0023	0.0047	2.532e-05	0.0026	0.0073	0.0050	0.0043	0.0043	0.0031	0.0031	0.0034	0.0029	0.0054	0.0029	0.0028	0.0045	0.0044	0.0011	0	0.0019	0.0046	0	0.0010	0.0102	0.0050	0.0047	0.0054	0.167	0.23095	T	0.396	0.15206	T	0.006	0.13644	B	0.004	0.10090	B	0.790304	0.06708	N	1.128570	1	0.08975	N	1.39	0.34934	L	0.56	0.54540	T	-1.42	0.34992	N	0.079	0.05414	-1.0316	0.19937	T	0.080	0.31765	T	10	0.004522085	0.00093	T	0.015757	0.36670	T	0.036	0.09122	0.304	0.27325	0.290962096972	0.28708	0.010660515824942941	0.01027	0.0104999209884	0.00971	0.270921885967	0.06262	T	0.003012	0.02412	T	-0.56824	0.00227	T	-0.587095	0.13918	T	0.000119391157780458	0.00001	T	0.59684	0.22194	T	0.04304109	0.06636	0.09150095	0.21516	0.04304109	0.06636	0.09150095	0.21515	-3.586	0.17654	T	.	.	0.201	0.42491	B	.	.	1.085895	0.14694	11.24	0.7223724886385382	0.09903	0.14144	0.18246	N	AEFBI	0.097823	0.19722	N	-0.946683733613971	0.09768	0.4637223	-0.928572419922514	0.11421	0.5817635	4.50475509423414E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.02	2.77	0.31614	0.727000	0.25667	2.895000	0.35415	-0.169000	0.11342	0.000000	0.06391	0.213000	0.23658	0.051000	0.15275	0.2515:0.0:0.7485:0.0	7.654	0.27532	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.005051	0.008152	0.005848	0.000000	0.008621	0.021472	0.000000	0.02632	1775.33	34	chr12	85056465	.	G	A	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.515;DP=785;ExcessHet=0;FS=1.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.198;SOR=0.89	GT:AD:DP:GQ:PL	0/1:58,67:125:99:1789,0,1556	18	0	1	0
chr12	92853019	92853019	T	C	exonic	EEA1	.	nonsynonymous SNV	EEA1:NM_003566:exon7:c.A413G:p.Q138R	.	557	964	1	0	0	1	0.000518403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0233314048515	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775903964	5.557e-06	6.841e-06	2.765e-06	8.377e-06	0.0004	2.39e-06	1.73e-06	6.341e-05	2.614e-05	0	0	0	0	0	0.0004	9.098e-07	0	6.048e-05	6.565e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.6	0.05635	T	0.474	0.12107	T	0.181	0.29111	B	0.022	0.19653	B	0.006942	0.31695	N	0.142489	0.938341	0.37222	D	1.32	0.33002	L	-0.17	0.65563	T	-1.11	0.28703	N	0.163	0.17140	-0.9264	0.44659	T	0.133	0.44583	T	10	0.13805386	0.26258	T	0.023331	0.46285	T	0.053	0.14996	0.136	0.04008	0.54588693629	0.54243	0.09603653653746012	0.09535	0.194954609406	0.21832	0.38447239995	0.22889	T	0.105563	0.41615	T	-0.247324	0.14429	T	-0.377705	0.35991	T	0.353815406560898	0.27168	T	0.746025	0.36642	T	0.11808227	0.27828	0.10792221	0.25989	0.11808227	0.27827	0.10792221	0.25988	-3.552	0.17168	T	.	.	0.084	0.09578	B	.	.	2.362079	0.30299	18.39	0.99137664140389103	0.53437	0.98555	0.84043	D	AEFBI	0.572722	0.57619	D	-0.114385301190926	0.36765	2.129638	0.0875109642909439	0.43917	2.683796	0.997950248011027	0.36237	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	5.191000	0.64948	4.112000	0.41924	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:0.0:1.0	15.572	0.76083	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	674.33	34	chr12	92853019	.	T	C	674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.873;DP=686;ExcessHet=0;FS=3.28;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.422;SOR=1.115	GT:AD:DP:GQ:PL	0/1:38,31:69:99:688,0,993	18	0	1	0
chr12	94220064	94220064	A	G	exonic	PLXNC1	.	nonsynonymous SNV	PLXNC1:NM_005761:exon6:c.A1603G:p.M535V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0119050405433	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs755955383	8.895e-06	8.893e-06	9.531e-06	8.252e-06	2.988e-05	4.96e-06	3.82e-06	3.81e-06	2.76e-06	2.988e-05	2.236e-05	0	2.519e-05	0	0	8.096e-06	1.656e-05	0	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	0.525	0.07140	T	0.912	0.02943	T	0.0	0.02946	B	0.0	0.01387	B	0.301801	0.03959	N	1.770890	1	0.08975	N	-0.9	0.01342	N	3.52	0.04905	T	0.01	0.06868	N	0.054	0.02559	-0.9666	0.37894	T	0.004	0.01470	T	10	0.020433128	0.00471	T	0.011905	0.29978	T	0.024	0.04979	0.287	0.24601	0.128874641272	0.12493	0.5261838042554314	0.52542	0.414849778158	0.42153	0.246217906475	0.03379	T	0.031572	0.22103	T	-0.533783	0.00365	T	-0.83539	0.01170	T	0.0237131309308704	0.01109	T	0.482752	0.14626	T	0.039184865	0.05362	0.033928066	0.02369	0.039184865	0.05362	0.033928066	0.02369	-1.891	0.02795	T	.	.	0.062	0.01271	B	.	.	-0.839011	0.01033	0.043	0.34534212050612084	0.02118	0.00199	0.01145	N	AEFBI	0.026335	0.01958	N	-1.82290457741045	0.00491	0.02115142	-1.82013725513398	0.00697	0.0310294	0.982377986072769	0.30390	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.08	-6.56	0.01680	-1.208000	0.03115	-2.885000	0.03263	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.3318:0.2122:0.2413:0.2147	0.310	0.00266	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	34	chr12	94220064	.	A	G	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=716;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.87;SOR=1.035	GT:AD:DP:GQ:PL	0/1:50,34:84:99:770,0,1183	18	0	1	0
chr12	101737877	101737877	T	C	exonic	SYCP3	.	nonsynonymous SNV	SYCP3:NM_001177948:exon2:c.A59G:p.Q20R,SYCP3:NM_001177949:exon2:c.A59G:p.Q20R,SYCP3:NM_153694:exon2:c.A59G:p.Q20R	Pregnancy loss, recurrent, 4, Autosomal dominant;Spermatogenic failure 4, Autosomal dominant	0	1502	20	0	0	20	0.00661376	.	.	.	869054	Spermatogenic_failure_4	MONDO:MONDO:0010052,MedGen:C0232981,OMIM:270960	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	0.00584070470239	0.0004	0.000599042	0.0008	0.0003	0	0	0	0.0005	0	0.0036	0.000718	111	154602	rs143228358	0.0006	0.0006	0.0005	0.0008	0.0042	0.0006	0.0006	0.0038	0.0037	5.974e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0008	0.0042	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0002	0.0027	0.0023	2.405e-05	0	6.535e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0041	0.824	0.02928	T	0.43	0.13713	T	0.002	0.09854	B	0.002	0.06944	B	0.345971	0.13890	N	0.694656	0.999111	0.21609	N	1.95	0.52479	M	.	.	.	-0.69	0.19720	N	0.361	0.41853	-0.9708	0.37030	T	0.146	0.46967	T	9	0.005790025	0.00129	T	0.005841	0.15191	T	0.085	0.24743	.	.	0.132336055621	0.12781	0.09953994278906358	0.09884	0.281062327463	0.30577	0.263465881348	0.05310	T	0.11399	0.43146	T	-0.394535	0.02514	T	-0.340654	0.40269	T	0.0133992460828032	0.00243	T	0.390461	0.09684	T	0.04984325	0.08912	0.059598148	0.11213	0.053708326	0.10204	0.057938606	0.10621	-3.246	0.13051	T	.	.	0.074	0.04975	B	.;.;.	.;.;.	1.195877	0.15877	12.16	0.91376685326588247	0.20641	0.68804	0.33941	D	AEFDBI	0.080722	0.16326	N	-0.215903476048163	0.32481	1.832244	-0.13961489558119	0.33809	1.938006	0.0711789056584624	0.15557	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	5.01	5.01	0.66477	2.308000	0.43350	0.423000	0.18241	-0.157000	0.11712	0.986000	0.36153	0.251000	0.23919	0.006000	0.07323	0.0:0.0:0.151:0.849	11.421	0.49228	465	0.78421	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1053.33	35	chr12	101737877	.	T	C	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=730;ExcessHet=0;FS=0.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.17;SOR=0.569	GT:AD:DP:GQ:PL	0/1:55,45:100:99:1067,0,1283	18	0	1	0
chr12	101766270	101766270	A	G	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon12:c.T1433C:p.I478T	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	713282	Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy|not_provided	MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.266	0.0544605855198	0.0004	0.000399361	0.0007	0.0003	0	0	0	0.0005	0	0.0025	0.0006015	93	154602	rs149718548	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0026	0.0025	8.963e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0007	0.0029	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0023	0.0019	4.813e-05	0	6.539e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0035	0.182	0.21801	T	0.489	0.11586	T	0.003	0.11197	B	0.005	0.11217	B	0.925238	0.08459	N	0.967326	1	0.08975	N	1.1	0.28011	L	-3.85	0.95859	D	-0.12	0.08809	N	0.169	0.17966	-0.3094	0.74722	T	0.584	0.85079	D	10	0.0063535273	0.00143	T	0.054461	0.65866	D	0.266	0.57999	.	.	0.365317461125	0.36143	0.5691773594388446	0.56845	0.28373127432	0.30810	0.301884233952	0.10682	T	0.075602	0.35216	T	-0.319188	0.06965	T	-0.235883	0.51200	T	0.00434952491633391	0.00046	T	0.874313	0.58483	D	0.024662929	0.01321	0.027240569	0.00862	0.024662929	0.01321	0.027240569	0.00862	-4.152	0.26053	T	0.09487341674740654	0.06396	0.080	0.07841	B	.	.	0.295647	0.06715	3.225	0.58841609734208611	0.06085	0.04924	0.10679	N	AEFBI	0.045895	0.07560	N	-1.29789030836205	0.03701	0.1658055	-1.3277398934604	0.04075	0.1914703	0.999975229042931	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	-4.69	0.03061	-0.392000	0.07375	-0.108000	0.11862	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.2925:0.4172:0.2902:0.0	7.658	0.27550	471	0.78036	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1797.33	34	chr12	101766270	.	A	G	1797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.038;DP=763;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.28;SOR=0.556	GT:AD:DP:GQ:PL	0/1:68,76:144:99:1811,0,1661	18	0	1	0
chr12	102855154	102855154	C	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon6:c.G688A:p.V230I,PAH:NM_001354304:exon7:c.G688A:p.V230I	Phenylketonuria, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	YES	108520	not_provided|Phenylketonuria|PAH-related_disorder	MedGen:C3661900|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|.	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.512	0.242250572168	0.0002	.	0.0004	0	0.0003	0	0.0002	0.0003	0	0.0016	0.0003622	56	154602	rs62516152	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0012	2.987e-05	0.0004	0.0028	0.0001	0.0008	0.0023	0.0001	0.0008	0.0014	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	9.627e-05	0	0.0006	0.0009	0.0004	0.0007	0	0.0003	0.0019	0.0004	0.238	0.18122	T	0.365	0.16717	T	0.09	0.25173	B	0.022	0.19653	B	0.000001	0.62929	D	0.055923	1	0.81001	D	0.185	0.09099	N	-6.21	0.99572	D	-0.16	0.09460	N	0.373	0.41557	1.062	0.98388	D	0.920	0.97352	D	10	0.07067916	0.10316	T	0.242251	0.88752	D	0.512	0.79094	.	.	0.864028493511	0.86271	0.835844573274614	0.83544	0.0310148387879	0.03212	0.536185860634	0.43907	T	0.652911	0.89490	D	-0.0544566	0.43768	T	0.124373	0.78523	D	0.0279868235073283	0.01686	T	0.972903	0.90223	D	0.39920378	0.60677	0.1110115	0.26774	0.33593777	0.55954	0.11763171	0.28396	-4.024	0.24162	T	0.10387130477089043	0.08062	0.087	0.11366	B	.;.	.;.	2.527821	0.32673	19.11	0.98006251691503832	0.37521	0.88312	0.48183	D	AEFBI	0.789594	0.71873	D	-0.174495440160012	0.34200	1.949154	-0.0124763124035698	0.39149	2.316974	0.849897142339245	0.25024	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	1.651000	0.36918	6.016000	0.52721	0.599000	0.40250	0.834000	0.30193	1.000000	0.68203	0.720000	0.34772	0.0:0.9278:0.0:0.0722	14.538	0.67561	528	0.73785	Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal;Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	959.33	40	chr12	102855154	.	C	T	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=769;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=2.24;SOR=0.563	GT:AD:DP:GQ:PL	0/1:31,34:65:99:973,0,1126	18	0	1	0
chr12	103979899	103979899	C	A	exonic	TDG	.	nonsynonymous SNV	TDG:NM_003211:exon3:c.C235A:p.P79T	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0052	0.0004	0.0023	0	0.0008	0.0031	0.0056	0.0231	0.0041849	647	154602	rs758388260	0.0022	0.0041	0.0016	0.0028	0.0160	0.0021	0.0021	0.0153	0.0150	0.0002	0.0011	0.0055	2.52e-05	0.0005	0.0044	0.0013	0.0027	0.0160	0.0010	0.0030	0.0008	0.0011	0.0086	0.0009	0.0008	0.0065	0.0058	0.0002	0	0.0008	0.0029	0	0.0002	0.0035	0.0011	0.0009	0.0086	0.023	0.48186	D	0.018	0.59732	D	0.004	0.12183	B	0.002	0.06944	B	0.000280	0.46590	D	0.226724	0.999435	0.81001	D	1.87	0.49600	L	2.21	0.46028	T	-1.65	0.50337	N	0.178	0.20129	-0.9981	0.30451	T	0.121	0.42208	T	10	0.004401505	0.00090	T	.	.	.	0.044	0.11924	.	.	0.71034540647	0.70781	0.47358462202903356	0.47277	0.609113261058	0.55654	0.382329493761	0.22587	T	0.148085	0.48647	T	-0.141711	0.29619	T	-0.441334	0.28658	T	0.0495586411044562	0.05423	T	0.729627	0.35417	T	0.07418007	0.16629	0.06795538	0.14129	0.07418007	0.16629	0.06795538	0.14129	-5.529	0.42139	T	.	.	0.053	0.01692	B	.;.;.;.	.;.;.;.	2.252065	0.28770	17.91	0.97314621209408192	0.33346	0.95896	0.66622	D	AEFGBI	0.270118	0.38625	N	-0.216092292811573	0.32472	1.831733	-0.212287760807896	0.31094	1.756544	0.997830341347561	0.36087	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.19	2.27	0.27501	2.670000	0.46499	1.350000	0.25801	0.599000	0.40250	0.940000	0.32642	0.004000	0.18990	0.951000	0.49849	0.0:0.7321:0.1267:0.1411	8.449	0.32019	879	0.29470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.015152	0.008152	0.008772	0.000000	0.008621	0.018293	0.022727	0.05263	857.83	40	chr12	103979899	.	C	A	857.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.44;DP=1034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.18;MQRankSum=-6.775;QD=4.69;ReadPosRankSum=0.759;SOR=0.725	GT:AD:DP:GQ:PL	0/1:102,24:126:99:450,0,3206	17	0	2	0
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.000000	0.008152	0.005848	0.000000	0.008621	0.018293	0.041667	0.05263	3943.81	39	chr12	104067989	.	C	T	3943.81	.	AC=2;AF=0.053;AN=38;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.3;SOR=0.758	GT:AD:DP:GQ:PL	1/1:0,126:126:99:3971,377,0	18	1	0	0
chr12	106815141	106815141	C	T	exonic	RIC8B	.	nonsynonymous SNV	RIC8B:NM_001330146:exon2:c.C530T:p.T177M,RIC8B:NM_001351363:exon2:c.C530T:p.T177M,RIC8B:NM_001330145:exon3:c.C578T:p.T193M,RIC8B:NM_001330147:exon3:c.C578T:p.T193M,RIC8B:NM_001351366:exon3:c.C314T:p.T105M,RIC8B:NM_001351367:exon3:c.C314T:p.T105M,RIC8B:NM_018157:exon3:c.C578T:p.T193M,RIC8B:NM_001351361:exon4:c.C554T:p.T185M,RIC8B:NM_001351362:exon4:c.C554T:p.T185M,RIC8B:NM_001351364:exon4:c.C458T:p.T153M	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0300850452578	0.0062	0.00219649	0.0055	0.0011	0.0021	0	0.0041	0.0079	0.0044	0.0042	0.0055497	858	154602	rs144718130	0.0073	0.0073	0.0073	0.0072	0.0077	0.0072	0.0071	0.0076	0.0075	0.0009	0.0020	0.0291	0	0.0052	0.0049	0.0077	0.0080	0.0044	0.0055	0.0056	0.0058	0.0052	0.0077	0.0052	0.0051	0.0072	0.0070	0.0015	0.0066	0.0023	0.0346	0	0.0059	0.0034	0.0077	0.0024	0.0054	0.002	0.72154	D	0.034	0.63918	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.086040	1	0.81001	D	1.915	0.51223	L	0.78	0.49358	T	-2.68	0.57275	D	0.678	0.68516	-0.7077	0.60065	T	0.231	0.59632	T	10	0.008906454	0.00202	T	0.030085	0.52471	D	0.204	0.49076	.	.	0.15499578495	0.15088	0.5005013620517057	0.49971	1.53778767569	0.87672	0.643066287041	0.59000	T	0.037384	0.33252	T	-0.27047	0.11705	T	-0.148964	0.59336	T	0.0178634694839841	0.00514	T	0.914409	0.70605	D	0.39497113	0.60383	0.43101045	0.66732	0.39497113	0.60383	0.43101045	0.66733	-8.02	0.64845	D	.	.	0.131	0.28145	B	.;.;.;.	.;.;.;.	4.912373	0.80831	27.4	0.99917223858739768	0.98518	0.97280	0.73763	D	AEFBI	0.450153	0.50467	N	0.712874322352948	0.80475	7.302711	0.71639421673419	0.83624	8.070709	0.999999999993313	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	3.754000	0.54903	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.296	0.98558	408	0.82256	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.003049	0.003788	0.05263	4424.83	33	chr12	106815141	.	C	T	4424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.96;DP=922;ExcessHet=0.119;FS=0.405;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.22;SOR=0.649	GT:AD:DP:GQ:PL	0/1:94,77:171:99:2204,0,2345	17	0	2	0
chr12	109246234	109246234	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon39:c.G5357A:p.R1786Q	.	423	1085	14	0	0	14	0.00641026	.	.	.	713318	ACACB-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.855	0.22667478314	0.0048	0.00279553	0.0046	0.0015	0.0016	0.0002	0.0018	0.0061	0.0011	0.0065	0.004586	709	154602	rs144673785	0.0062	0.0062	0.0063	0.0062	0.0071	0.0061	0.0061	0.0070	0.0069	0.0014	0.0012	0.0028	0	0.0014	0.0033	0.0071	0.0051	0.0071	0.0044	0.0044	0.0045	0.0043	0.0073	0.0041	0.0040	0.0061	0.0059	0.0016	0.0482	0.0023	0.0046	0.0004	0.0018	0.0068	0.0066	0.0033	0.0073	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.058289	0.999999	0.81001	D	3.58	0.93551	H	-4.65	0.97938	D	-3.74	0.71042	D	0.973	0.98368	0.903	0.95720	D	0.958	0.98646	D	10	0.098863095	0.17904	T	0.226675	0.88055	D	0.855	0.95544	.	.	0.788827947797	0.78687	0.9634623608571236	0.96333	0.94141016562	0.72219	0.482595443726	0.36414	T	0.96615	0.99597	D	0.233261	0.77027	D	0.573963	0.96277	D	0.0615756208961317	0.07414	T	0.996	0.98873	D	0.78223073	0.82791	0.5406479	0.73452	0.78223073	0.82793	0.5406479	0.73453	-11.021	0.79774	D	.	.	0.419	0.67259	A	.;.;.	.;.;.	4.654274	0.74218	26.1	0.99938655837885371	0.99698	0.98739	0.86233	D	AEFBI	0.950762	0.96471	D	0.770890160005408	0.84256	8.237651	0.612763216402882	0.75866	6.386948	0.997955428755747	0.36237	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.24	4.34	0.51267	9.990000	0.99219	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:0.0:0.8608:0.1392	15.540	0.75769	694	0.58444	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.018939	0.02632	1477.33	34	chr12	109246234	.	G	A	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.46;DP=750;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.099;SOR=0.985	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1491,0,1371	18	0	1	0
chr12	120214922	120214922	C	T	exonic	PXN	.	nonsynonymous SNV	PXN:NM_001243756:exon8:c.G1223A:p.R408Q,PXN:NM_002859:exon8:c.G1079A:p.R360Q,PXN:NM_025157:exon8:c.G680A:p.R227Q,PXN:NM_001080855:exon9:c.G1181A:p.R394Q	.	418	1070	34	0	0	34	0.0156394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0797572520239	0.0016	0.000599042	0.0023	0.0003	0.0004	0	0.0032	0.0034	0	0.0009	0.0021216	328	154602	rs111674215	0.0019	0.0019	0.0020	0.0019	0.0224	0.0019	0.0019	0.0192	0.0180	0.0005	0.0012	0.0054	0.0002	0.0029	0.0224	0.0019	0.0030	0.0009	0.0016	0.0016	0.0013	0.0018	0.0020	0.0014	0.0013	0.0017	0.0016	0.0003	0	0.0012	0.0037	0.0004	0.0042	0.0068	0.0020	0.0019	0.0015	0.133	0.27544	T	0.271	0.23984	T	0.585	0.40359	P	0.105	0.31615	B	.	.	.	.	1	0.81001	D	-0.235	0.03917	N	-2.25	0.87272	D	-2.41	0.52938	N	0.525	0.61341	-0.4091	0.71739	T	0.326	0.69418	T	9	0.010912269	0.00241	T	0.079757	0.73308	D	0.399	0.71321	.	.	0.893840687942	0.89279	0.4575059753207088	0.45668	0.771881204982	0.64809	0.732327580452	0.71847	T	0.707445	0.91628	D	-0.245447	0.14661	T	-0.129335	0.61029	T	0.02653105194599	0.01479	T	0.858514	0.84742	D	0.26880148	0.49952	0.23454912	0.48674	0.26880148	0.49952	0.23454912	0.48673	-12.086	0.85897	D	.	.	0.335	0.55590	B	.;.;.;.;.;.	.;.;.;.;.;.	5.348436	0.89727	31	0.99892984177864352	0.96666	0.90481	0.51693	D	AEFDBCI	0.718958	0.66999	D	-0.043095108725219	0.39911	2.361425	0.164567877012949	0.47919	3.015019	0.999999999982393	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	6.085000	0.70992	7.640000	0.63152	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.685	0.91521	437	0.80299	.;.;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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.015152	0.024457	0.038012	0.000000	0.017241	0.021341	0.018939	0.02632	2211.33	33	chr12	120214922	.	C	T	2211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=815;ExcessHet=0;FS=1.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-1.846;SOR=0.6	GT:AD:DP:GQ:PL	0/1:92,85:177:99:2225,0,2310	18	0	1	0
chr12	122703204	122703204	A	G	exonic	HCAR2	.	nonsynonymous SNV	HCAR2:NM_177551:exon1:c.T80C:p.V27A	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00206751157435	.	0.000199681	6.59e-05	9.612e-05	0	0.0001	0	1.498e-05	0	0.0003	1.94e-05	3	154602	rs3196376	4.378e-05	5.336e-05	3.675e-05	5.088e-05	0.0003	3.509e-05	3.193e-05	0.0002	0.0002	2.987e-05	2.236e-05	0	0.0002	0	0	2.428e-05	6.623e-05	0.0003	6.584e-05	8.537e-05	9.016e-05	4.041e-05	0.0002	3.523e-05	2.621e-05	4.735e-05	3.051e-05	0.0001	0	0	0	0.0002	0	0	4.423e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.165637	0.17527	N	0.526469	0.999999	0.08975	N	-2.05	0.00173	N	1.27	0.36146	T	1.1	0.01229	N	0.034	0.00942	-0.9687	0.37468	T	0.022	0.09330	T	10	0.013396472	0.00284	T	0.002068	0.03801	T	0.042	0.11227	.	.	0.0954503805726	0.09146	0.10400648141999637	0.10330	0.868613176099	0.69318	0.278672128916	0.07309	T	0.044014	0.26683	T	-0.570438	0.00220	T	-0.752624	0.03385	T	0.0270952207729064	0.01557	T	0.10459	0.00778	T	0.02051744	0.00613	0.03565668	0.02858	0.02051744	0.00612	0.03565668	0.02858	-0.628	0.00668	T	.	.	0.057	0.00533	B	.	.	-0.308498	0.02580	0.316	0.46546000455462566	0.03736	0.06002	0.11966	N	AEFDGBHCI	0.036737	0.04943	N	-1.58521522868767	0.01340	0.05838344	-1.4840510780623	0.02475	0.1138793	0.999975812068273	0.50053	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	0.435	0.15757	0.194000	0.16941	2.146000	0.30877	-0.689000	0.04143	0.029000	0.20367	0.991000	0.31484	0.068000	0.16518	0.216:0.117:0.667:0.0	8.301	0.31175	480	0.77422	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3310.33	35	chr12	122703204	.	A	G	3310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.93;DP=1148;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.6;MQRankSum=-15.34;QD=11.74;ReadPosRankSum=0.259;SOR=0.713	GT:AD:DP:GQ:PL	0/1:161,121:282:99:3324,0,4254	18	0	1	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V,SBNO1:NM_018183:exon24:c.A3175G:p.M1059V	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C 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	0.016633	0.005102	0.014946	0.017544	0.000000	0.000000	0.027439	0.030303	0.07895	2880.79	37	chr12	123313662	.	T	C	2880.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.604;DP=800;ExcessHet=0.3672;FS=6.012;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.806;SOR=0.435	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1012,0,1051	16	0	3	0
chr12	123430536	123430536	C	T	exonic	RILPL2	.	nonsynonymous SNV	RILPL2:NM_145058:exon2:c.G463A:p.V155M	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	.	0.00279553	0.0019	0	0.0003	0	0	0	0.0033	0.0138	0.0016235	251	154602	rs573820193	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0127	0.0124	3.025e-05	8.988e-05	0	0	0	0.0009	2.706e-06	0.0009	0.0133	0.0004	0.0004	0.0002	0.0006	0.0122	0.0003	0.0003	0.0097	0.0088	2.406e-05	0	0	0	0.0002	0	0	0	0	0.0122	0.019	0.50132	D	0.062	0.45318	T	0.884	0.48618	P	0.459	0.46380	P	0.184772	0.17006	N	0.602478	0.939248	0.37254	D	1.845	0.48678	L	0.65	0.52642	T	-0.83	0.22727	N	0.335	0.37613	-0.7237	0.59279	T	0.175	0.51911	T	10	0.007984042	0.00181	T	.	.	.	0.093	0.26882	0.161	0.06507	0.56220600717	0.55883	0.20764980689016083	0.20680	1.24184570704	0.81584	0.435316205025	0.29936	T	0.06008	0.31290	T	-0.538732	0.00341	T	-0.534951	0.18794	T	0.0901841733558839	0.11240	T	0.751525	0.37371	T	0.30669928	0.53499	0.2103535	0.45418	0.30669928	0.53499	0.2103535	0.45417	-5.141	0.38336	T	.	.	0.242	0.47589	B	.	.	3.909569	0.56999	23.8	0.99877138572437563	0.95410	0.89194	0.49513	D	AEFDBI	0.266963	0.38377	N	0.307092670501569	0.56512	3.816022	0.32356857049971	0.56927	3.857009	0.999999893459096	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.04	4.16	0.48138	2.522000	0.45232	0.352000	0.17487	0.566000	0.28629	0.980000	0.35271	0.004000	0.18990	0.979000	0.57723	0.0:0.7555:0.2445:0.0	16.685	0.85160	304	0.87780	Rab interacting lysosomal protein, dimerization domain|RH2 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	0.001012	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003817	0.02632	839.33	35	chr12	123430536	.	C	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.58;DP=691;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.062;SOR=0.534	GT:AD:DP:GQ:PL	0/1:40,36:76:99:853,0,1010	18	0	1	0
chr12	129700216	129700216	C	T	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon2:c.G562A:p.D188N	.	430	1084	7	1	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0143609685915	7.7e-05	0.00139776	0.0012	0	0.0004	0	0	0.0001	0.0023	0.0074	0.0009702	150	154602	rs369816529	0.0006	0.0006	0.0004	0.0008	0.0070	0.0006	0.0006	0.0066	0.0064	0	6.711e-05	0	0	0	0.0024	0.0002	0.0009	0.0070	0.0003	0.0003	0.0002	0.0005	0.0068	0.0003	0.0002	0.0050	0.0044	0	0	6.532e-05	0	0	0	0.0068	0.0002	0	0.0068	0.497	0.07821	T	0.595	0.08079	T	0.302	0.32608	B	0.076	0.28435	B	0.162005	0.03046	N	1.807300	1	0.08975	N	1.875	0.49914	L	1.01	0.41058	T	-0.78	0.21644	N	0.225	0.25253	-1.0067	0.27943	T	0.121	0.42058	T	9	0.009413928	0.00212	T	0.014361	0.34425	T	0.102	0.29158	.	.	0.171220215726	0.16700	0.2672339194460034	0.26636	0.249042722769	0.27473	0.402424812317	0.25407	T	0.004835	0.04249	T	-0.656044	0.00066	T	-0.711412	0.05223	T	0.0197214533370376	0.00674	T	0.321768	0.06536	T	0.06952621	0.15238	0.042100396	0.04939	0.06952621	0.15238	0.042100396	0.04938	-8.865	0.66823	D	.	.	0.072	0.04080	B	.	.	1.690488	0.21541	15.24	0.97932020970649403	0.36964	0.22004	0.21599	N	AEFDBI	0.147654	0.27138	N	-0.498939651779223	0.22116	1.178626	-0.515219661172057	0.21739	1.177479	0.0176990811700387	0.12979	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.22	3.31	0.37025	1.599000	0.36361	-0.409000	0.09359	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.843000	0.39806	0.0:0.6109:0.3127:0.0764	8.944	0.34909	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.017241	0.006098	0.011364	0.02632	1757.33	36	chr12	129700216	.	C	T	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.854;DP=744;ExcessHet=0;FS=1.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.736;SOR=0.87	GT:AD:DP:GQ:PL	0/1:49,63:112:99:1771,0,1390	18	0	1	0
chr12	130437072	130437072	C	T	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon11:c.G1825A:p.E609K,RIMBP2:NM_001351227:exon12:c.G1876A:p.E626K,RIMBP2:NM_001351226:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351228:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351229:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351230:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351231:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351232:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351233:exon14:c.G1549A:p.E517K	.	420	1100	2	0	0	2	0.000908265	.	.	.	2346406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.0536073917695	0.0003	0.000399361	0.0003	0	0.0007	0.0001	0	0.0002	0	0.0009	0.0002652	41	154602	rs141816554	0.0001	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0.0002	0.0004	0.0002	0.0002	0	0.0014	9.181e-05	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0005	0.0004	2.411e-05	0	0.0008	0.0009	0	0	0.0034	0.0001	0.0005	0.0002	0.052	0.39097	T	0.576	0.08624	T	0.147	0.27870	B	0.015	0.17295	B	0.620034	0.10786	N	0.813751	0.701272	0.35545	D	0.895	0.22405	L	1.57	0.29342	T	-1.15	0.29525	N	0.356	0.39760	-1.0226	0.22866	T	0.056	0.23565	T	10	0.04541567	0.03610	T	0.053607	0.65534	D	0.069	0.20116	.	.	0.460795861206	0.45704	0.4352699410569429	0.43443	0.309426610143	0.33251	0.636753439903	0.58103	T	0.024872	0.18712	T	-0.452539	0.01091	T	-0.527023	0.19585	T	0.0340902893774486	0.02653	T	0.916108	0.70062	D	0.22730565	0.45428	0.13254891	0.31805	0.22730565	0.45428	0.13254891	0.31804	-5.946	0.45825	T	.	.	0.175	0.38354	B	.;.;.	.;.;.	3.179896	0.43155	21.7	0.99567523188944485	0.72197	0.90399	0.51544	D	AEFDBCI	0.643802	0.62028	D	-0.363572522441025	0.26775	1.463966	-0.324442269354729	0.27311	1.514605	0.178395008382057	0.17837	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	2.380000	0.43982	5.687000	0.49320	0.511000	0.23309	0.989000	0.36753	1.000000	0.68203	0.043000	0.14563	0.0:1.0:0.0:0.0	17.499	0.87620	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003539	0.000000	0.004087	0.005882	0.000000	0.000000	0.003067	0.003788	0.02632	1564.33	38	chr12	130437072	.	C	T	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=757;ExcessHet=0;FS=3.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.315;SOR=0.643	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1578,0,1130	18	0	1	0
chr12	131838267	131838267	C	A	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon2:c.C232A:p.L78M	.	405	1114	3	0	0	3	0.00134469	.	.	.	713437	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.260	0.0182196594421	0.0028	0.00199681	0.0029	0.0013	0.0011	0	0.0005	0.0036	0	0.0049	0.0029495	456	154602	rs143543400	0.0044	0.0044	0.0043	0.0044	0.0052	0.0043	0.0042	0.0048	0.0048	0.0006	0.0018	0.0020	0	0.0011	0.0017	0.0049	0.0038	0.0052	0.0028	0.0028	0.0027	0.0029	0.0046	0.0026	0.0025	0.0035	0.0034	0.0010	0	0.0038	0.0017	0	0.0017	0	0.0039	0.0057	0.0046	0.267	0.16198	T	0.064	0.44905	T	1.0	0.90584	D	0.996	0.84481	D	0.000014	0.62929	D	0.000000	0.999302	0.81001	D	2.06	0.56677	M	0.96	0.42888	T	-1.51	0.36787	N	0.612	0.62866	-0.9421	0.42282	T	0.144	0.46750	T	10	0.016211122	0.00341	T	0.01822	0.40210	T	0.260	0.57221	.	.	0.740732301882	0.73841	0.6324805188749516	0.63182	0.75807356458	0.64108	0.587504863739	0.51143	T	0.116357	0.43564	T	-0.398227	0.02379	T	-0.342883	0.40017	T	0.0124243251831525	0.00204	T	0.822818	0.48291	T	0.26492384	0.49561	0.16964218	0.39013	0.26492384	0.49560	0.16964218	0.39012	-8.324	0.63257	D	.	.	0.210	0.43707	B	.	.	3.489776	0.48768	22.7	0.99390397164035027	0.62292	0.96516	0.69530	D	AEFBI	0.762278	0.69974	D	0.300100182838633	0.56153	3.779777	0.221221981603406	0.51026	3.288854	0.931258775300986	0.27040	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.78	2.95	0.33285	3.184000	0.50627	0.162000	0.15417	0.599000	0.40250	1.000000	0.71638	0.958000	0.29226	0.885000	0.42453	0.0:0.8474:0.0:0.1526	11.058	0.47147	982	0.03397	Peptidoglycan binding-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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	812.33	33	chr12	131838267	.	C	A	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.448;DP=690;ExcessHet=0;FS=10.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.069;SOR=0.976	GT:AD:DP:GQ:PL	0/1:34,33:67:99:826,0,924	18	0	1	0
chr12	131932268	131932268	G	A	exonic	PUS1	.	nonsynonymous SNV	PUS1:NM_001002019:exon3:c.G313A:p.D105N,PUS1:NM_001002020:exon3:c.G313A:p.D105N,PUS1:NM_025215:exon3:c.G397A:p.D133N	Myopathy, lactic acidosis, and sideroblastic anemia 1, Autosomal recessive	0	1495	26	1	0	28	0.00927767	.	.	.	142562	Inborn_mitochondrial_myopathy|Sideroblastic_anemia|PUS1-related_disorder|not_specified|not_provided|Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_1	Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966|Human_Phenotype_Ontology:HP:0001924,Human_Phenotype_Ontology:HP:0100791,MONDO:MONDO:0015194,MedGen:C0002896,Orphanet:1047|.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024553,MedGen:C4551958,OMIM:600462,Orphanet:2598	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.109	.	0.0029	0.0311502	0.0162	0.0028	0.0049	0.0310	0.0005	0.0030	0.0089	0.0845	0.0149093	2305	154602	rs76655496	0.0095	0.0095	0.0075	0.0116	0.0798	0.0094	0.0093	0.0782	0.0776	0.0013	0.0043	0.0013	0.0239	0.0011	0.0042	0.0045	0.0119	0.0798	0.0068	0.0068	0.0056	0.0080	0.0909	0.0065	0.0063	0.0839	0.0811	0.0021	0	0.0037	0.0012	0.0326	0.0016	0	0.0037	0.0076	0.0909	0.228	0.40573	T	0.411	0.35330	T	0.024	0.20732	B	0.065	0.27321	B	0.000001	0.62929	D	0.095385	1	0.81001	D	1.605	0.40863	L	0.44	0.56609	T	-1.09	0.66206	N	0.444	0.65074	-1.0051	0.28427	T	0.084	0.32872	T	10	0.002247721	0.00033	T	.	.	.	0.109	0.30843	.	.	.	.	0.6149024543921929	0.61422	0.511382231021	0.49213	0.597359895706	0.52532	T	0.055613	0.38702	T	-0.445924	0.01193	T	-0.350783	0.39114	T	0.0176558024964372	0.00497	T	0.960504	0.88325	D	0.33064437	0.55524	0.17950864	0.40690	0.38453418	0.59642	0.14937331	0.35271	-10.094	0.74472	D	0.20681210837721148	0.27627	0.240	0.64169	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.147416	0.62187	24.4	0.9973716097631441	0.83192	0.97619	0.75946	D	AEFBCI	0.921696	0.89556	D	0.0636293898529792	0.44772	2.745185	0.235294112049143	0.51817	3.361038	0.999999999999997	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	7.972000	0.87634	11.604000	0.93497	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	0.0:0.0:1.0:0.0	18.852	0.92204	976	0.04745	.;.;.;.;.;.;.;.;.	.	.	.	.	rs76655496	Likely benign	0	0	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	0.008056	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.026515	0.02632	2383.33	38	chr12	131932268	.	G	A	2383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.685;DP=819;ExcessHet=0;FS=4.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-3.01;SOR=0.442	GT:AD:DP:GQ:PL	0/1:80,92:172:99:2397,0,1971	18	0	1	0
chr13	19426516	19426516	A	G	exonic	TPTE2	.	nonsynonymous SNV	TPTE2:NM_001271850:exon5:c.T317C:p.I106T,TPTE2:NM_130785:exon16:c.T1073C:p.I358T,TPTE2:NM_001141968:exon17:c.T971C:p.I324T,TPTE2:NM_199254:exon19:c.T1304C:p.I435T	.	.	.	.	.	.	.	.	0.0014	0.102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0161816214138	0.0002	.	8.291e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs369072535	2.095e-05	2.328e-05	1.882e-05	2.308e-05	0.0002	1.47e-05	1.271e-05	1.864e-05	1.605e-05	0	0	0	0	0	0.0002	2.688e-05	0	0	1.969e-05	1.968e-05	2.569e-05	1.342e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.048	0.46129	D	0.074	0.42976	T	0.035	0.23277	B	0.043	0.26930	B	0.001669	0.38326	N	0.219186	0.673806	0.30340	N	1.545	0.39105	L	-1.89	0.84557	D	-2.97	0.61865	D	0.344	0.38541	-0.3797	0.72660	T	0.451	0.78503	T	9	0.28638715	0.46221	T	0.016182	0.37308	T	0.358	0.67872	.	.	0.811579547373	0.80980	0.46913214362428785	0.46832	0.410825806987	0.41857	0.52453494072	0.42265	T	0.592453	0.86818	D	-0.0352941	0.46646	T	-0.158023	0.58529	T	0.140330612659454	0.16304	T	0.765923	0.39354	T	0.11157093	0.26364	0.083991	0.19290	0.11157093	0.26364	0.083991	0.19290	-6.315	0.52462	T	.	.	0.138	0.39965	B	.;.;.;.;.	.;.;.;.;.	1.771440	0.22528	15.66	0.91459470682994504	0.20730	0.49039	0.28343	N	AEFI	0.164416	0.29081	N	-0.443992450355036	0.23944	1.289417	-0.480401120565978	0.22693	1.233906	5.09657069686303E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.06	2.06	0.25932	4.250000	0.58561	5.045000	0.46946	0.524000	0.24156	0.334000	0.25623	0.326000	0.24349	0.000000	0.00833	1.0:0.0:0.0:0.0	6.163	0.19588	976	0.04745	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 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	0.000530	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1110.33	66	chr13	19426516	.	A	G	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.824;DP=1550;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.04;SOR=0.823	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1124,0,1641	18	0	1	0
chr13	20983400	20983400	C	T	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon5:c.G2306A:p.R769Q	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00980111736885	.	0.000199681	2.471e-05	9.612e-05	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs536277703	1.437e-05	1.436e-05	6.806e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	6.246e-05	4.757e-05	2.987e-05	2.236e-05	0	0	0	0.0002	5.396e-06	3.311e-05	0.0001	2.629e-05	2.626e-05	1.286e-05	4.034e-05	4.819e-05	8.14e-06	5.14e-06	7.99e-06	2.99e-06	4.819e-05	0	0	0	0	0	0	2.941e-05	0	0	0.243	0.17526	T	0.141	0.33442	T	0.95	0.53885	P	0.67	0.53116	P	0.000003	0.62929	D	0.000000	0.999987	0.54805	D	1.295	0.32453	L	3.03	0.08898	T	-2.84	0.59873	D	0.844	0.83987	-1.1611	0.00730	T	0.037	0.15943	T	10	0.6589614	0.70040	D	0.009801	0.25563	T	0.126	0.34673	0.635	0.77142	0.510359658301	0.50677	0.8514338249601817	0.85105	1.67942265989	0.89953	0.570915818214	0.48808	T	0.329739	0.70001	T	-0.233897	0.16137	T	-0.371099	0.36760	T	0.866982400417328	0.51702	D	0.956304	0.83415	D	0.29237914	0.52213	0.2391394	0.49255	0.29237914	0.52213	0.2391394	0.49254	-4.017	0.24057	T	.	.	0.066	0.02313	B	.	.	3.952438	0.57911	23.9	0.99946650562759787	0.99913	0.97042	0.72354	D	AEFDGBI	0.491019	0.52825	N	0.490365084669181	0.66524	4.961534	0.528474313636484	0.69915	5.428818	0.999999997716846	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	5.009000	0.63753	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	18.664	0.91440	920	0.19381	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2667.33	33	chr13	20983400	.	C	T	2667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.38;DP=831;ExcessHet=0;FS=1.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.736;SOR=0.588	GT:AD:DP:GQ:PL	0/1:98,87:185:99:2681,0,2472	18	0	1	0
chr13	32239330	32239330	T	C	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon45:c.T6497C:p.I2166T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.000668280777473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342961743	5.507e-06	6.841e-06	6.857e-06	4.147e-06	5.437e-06	2.37e-06	1.71e-06	1.96e-06	1.29e-06	0	0	0	0	0	0	5.437e-06	3.329e-05	0	6.571e-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	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.022530	0.26616	N	0.449156	0.927388	0.27146	N	-0.255	0.03828	N	.	.	.	.	.	.	0.249	0.28146	-1.0312	0.20066	T	0.029	0.12629	T	10	0.14222395	0.27016	T	6.68E-4	0.00383	T	0.081	0.23632	0.503	0.59615	0.043077524339	0.03247	0.2751742152913401	0.27430	0.507590868077	0.48939	0.310523062944	0.11985	T	0.002769	0.12791	T	-0.104001	0.35761	T	-0.387166	0.34883	T	0.631979703903198	0.37700	D	0.822518	0.48291	T	0.10295247	0.24330	0.10520957	0.25285	0.10295247	0.24329	0.10520957	0.25284	-2.717	0.07447	T	.	.	0.072	0.04396	B	.;.;.;.;.	.;.;.;.;.	3.578259	0.50435	22.9	0.28657165546664315	0.01482	0.91698	0.54074	D	AEFBHCI	0.231039	0.35433	N	-0.286305171439985	0.29676	1.647843	-0.0348506846983977	0.38152	2.243751	0.999972982200238	0.50053	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.93	5.93	0.95888	2.110000	0.41497	4.251000	0.42758	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.0:1.0	16.394	0.83400	946	0.12043	Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1634.33	33	chr13	32239330	.	T	C	1634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=740;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.825;SOR=0.786	GT:AD:DP:GQ:PL	0/1:44,61:105:99:1648,0,1035	18	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:80,39:125:87:87,0,1469	6	0	12	1
chr13	39012966	39012966	G	C	exonic	PROSER1	.	nonsynonymous SNV	PROSER1:NM_170719:exon10:c.C2220G:p.F740L,PROSER1:NM_025138:exon11:c.C2286G:p.F762L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0704177540381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.212	0.26549	T	0.99	0.63424	D	0.979	0.74454	D	.	.	.	.	0.998007	0.44406	D	2.39	0.68882	M	0.33	0.58323	T	-2.56	0.55339	D	0.859	0.85554	-0.7479	0.58045	T	0.242	0.61083	T	8	0.6544486	0.69791	D	0.070418	0.70998	D	0.252	0.56159	0.417	0.45709	0.138757226776	0.13463	0.684473569019447	0.68386	0.434137609734	0.43540	0.780321121216	0.78976	T	0.271855	0.64421	T	0.147043	0.68991	D	-0.0265598	0.68597	D	0.933846235275269	0.60089	D	0.884312	0.60710	D	0.3626597	0.58038	0.43858123	0.67239	0.3626597	0.58038	0.43858123	0.67239	-1.91	0.02942	T	.	.	0.891	0.86156	P	.;.	.;.	3.394254	0.47007	22.4	0.99821612345838906	0.90414	0.84664	0.43749	D	AEFBHCI	0.247663	0.36820	N	0.224904634447208	0.52407	3.415187	0.187318254846139	0.49151	3.121827	0.990827735804803	0.32281	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.21	3.44	0.38486	1.336000	0.33455	0.933000	0.22794	0.590000	0.31872	1.000000	0.71638	0.999000	0.35428	0.829000	0.39076	0.2135:0.0:0.7865:0.0	11.230	0.48135	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1921.33	33	chr13	39012966	.	G	C	1921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.392;DP=755;ExcessHet=0;FS=2.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.322;SOR=0.505	GT:AD:DP:GQ:PL	0/1:59,70:129:99:1935,0,1563	18	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,39:143:99:.:.:578,0,3514:.	3	0	15	1
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00928738655635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0043	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	7.169e-05	0.0003	0.0003	0.0002	0.0004	0.0007	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.359	0.17014	T	0.971	0.57185	D	0.825	0.59331	P	0.910049	0.07409	N	1.036210	0.738816	0.29756	N	2.25	0.63811	M	0.83	0.47815	T	-2.17	0.49018	N	0.299	0.33796	-0.8840	0.49440	T	0.220	0.58306	T	10	0.24265513	0.41465	T	0.009287	0.24389	T	0.157	0.40909	0.474	0.55020	0.818736002665	0.81702	0.4195385722957138	0.41869	0.292299643335	0.31640	0.676025271416	0.63699	T	0.177767	0.52817	T	-0.182115	0.23422	T	-0.499372	0.22412	T	0.931297183036804	0.59657	D	0.823718	0.48487	T	0.077003986	0.17449	0.085702814	0.19806	0.077003986	0.17449	0.085702814	0.19805	-6.791	0.52492	T	.	.	0.387	0.58814	A	.	.	2.668832	0.34787	19.72	0.99757066602325661	0.84772	0.28433	0.23553	N	AEFGBI	0.095724	0.19336	N	0.133333906900528	0.48022	3.020043	0.0518211482771647	0.42159	2.545258	0.975820955919572	0.29668	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	3.16	0.35406	0.142000	0.15917	0.534000	0.19274	0.599000	0.40250	0.161000	0.23811	0.997000	0.33255	0.999000	0.91618	0.0:0.8028:0.0:0.1972	7.319	0.25689	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved 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	.	.	.	.	.	.	.	.	0.1786	161.85	13	chr13	44965897	.	C	G	161.85	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-1.093;DP=380;ExcessHet=1.3;FS=147.874;InbreedingCoeff=-0.2464;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.4;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,6:26:58:0|1:44965897_C_G:58,0,580:44965897	9	0	5	5
chr13	44965903	44965903	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G768C:p.K256N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.079468754605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.256e-06	0.0002	6.919e-06	5.588e-06	2.57e-05	2.94e-06	2.13e-06	2.65e-06	1.71e-06	0	0	0	2.57e-05	0	0	6.375e-06	1.681e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.048141	0.998998	0.45836	D	3.485	0.92608	M	-0.0	0.62608	T	-4.03	0.74348	D	0.621	0.63628	-0.1080	0.79915	T	0.451	0.78515	T	10	0.7805929	0.77821	D	0.079469	0.73241	D	0.493	0.77910	0.534	0.64293	0.937841110162	0.93719	0.8097941414879597	0.80934	0.341759167531	0.36122	0.73443365097	0.72155	T	0.476975	0.80740	T	0.0379889	0.56782	T	-0.183208	0.56225	T	0.998566806316376	0.94507	D	0.845915	0.52533	T	0.5997311	0.72677	0.4414634	0.67429	0.5997311	0.72678	0.4414634	0.67430	-7.628	0.58506	D	.	.	0.979	0.91004	P	.	.	4.075358	0.60581	24.2	0.99859704594771792	0.93820	0.75947	0.37213	D	AEFGBI	0.127683	0.24514	N	0.589014654832026	0.72490	5.813697	0.489100109564107	0.67266	5.061066	0.995600798420479	0.34219	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	4.01	0.45821	1.083000	0.30427	1.768000	0.28610	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8802:0.0:0.1198	7.968	0.29270	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved 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	.	.	.	.	.	.	.	.	0.1154	145.49	13	chr13	44965903	.	C	G	145.49	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-0.974;DP=309;ExcessHet=0.3672;FS=90.35;InbreedingCoeff=-0.2387;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.793;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,6:23:67:0|1:44965897_C_G:67,0,499:44965897	10	0	3	6
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:84,30:127:51:51,0,1322	6	0	13	0
chr13	95083266	95083266	C	A	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301829:exon20:c.G2419T:p.V807F,ABCC4:NM_005845:exon21:c.G2560T:p.V854F	.	419	1067	33	3	0	39	0.0179475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	.	0.0045	0.00758786	0.0079	0.0013	0.0023	0.0001	0.0011	0.0063	0.0056	0.0294	0.0075614	1169	154602	rs11568694	0.0081	0.0081	0.0073	0.0089	0.0303	0.0080	0.0079	0.0293	0.0289	0.0008	0.0032	0.0041	5.04e-05	0.0010	0.0090	0.0075	0.0083	0.0303	0.0051	0.0051	0.0049	0.0053	0.0264	0.0048	0.0047	0.0227	0.0213	0.0013	0.0066	0.0046	0.0058	0	0.0002	0.0034	0.0071	0.0071	0.0264	0.003	0.68238	D	0.031	0.53788	D	0.104	0.30008	B	0.191	0.36391	B	0.009401	0.30383	N	0.373397	0.998144	0.44558	D	2.025	0.55430	M	-2.44	0.88767	D	-3.69	0.70432	D	0.64	0.65245	-0.3675	0.73037	T	0.426	0.76956	T	10	0.006900698	0.00157	T	.	.	.	0.524	0.79825	.	.	0.739652848333	0.73731	0.894728773003859	0.89443	0.38847119965	0.40111	0.308293074369	0.11649	T	0.372334	0.73654	T	-0.242169	0.15074	T	-0.0990057	0.63475	T	0.0588896642916767	0.06993	T	0.928907	0.73860	D	0.4317947	0.62869	0.33212125	0.59064	0.4317947	0.62870	0.33212125	0.59063	-13.51	0.91354	D	.	.	0.312	0.53921	B	.;.;.	.;.;.	1.332641	0.17383	13.13	0.99136705836733319	0.53410	0.83892	0.42984	D	AEFDBIJ	0.264943	0.38218	N	-0.701521546905509	0.15978	0.8100986	-0.680122938219504	0.17458	0.9284021	0.989342465083127	0.31795	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.563494	0.21769	0	.	.	5.42	0.388	0.15489	1.073000	0.30302	-0.296000	0.10153	-0.313000	0.06017	0.999000	0.42656	0.005000	0.19230	0.328000	0.25156	0.0:0.5339:0.0:0.4661	9.824	0.40067	916	0.20744	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.015152	0.008152	0.002924	0.000000	0.008621	0.030488	0.026515	0.05263	2560.81	34	chr13	95083266	.	C	A	2560.81	.	AC=2;AF=0.053;AN=38;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.1;SOR=0.887	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2588,264,0	18	1	0	0
chr13	102731998	102731998	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G18699A:p.M6233I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0051389339871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267132358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.316e-05	1.314e-05	0	2.694e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.233	0.26233	-0.9216	0.45334	T	0.006	0.02168	T	9	0.047190875	0.04005	T	0.005139	0.13063	T	0.006	0.00375	.	.	0.0297737177859	0.01360	0.021464167782097508	0.02099	.	.	0.320323437452	0.13471	T	.	.	.	-0.30072	0.08591	T	-0.66974	0.07625	T	0.0268754076163665	0.01526	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47986	B	.	.	-1.043386	0.00711	0.021	0.36215255858431872	0.02317	0.00088	0.00587	N	AEFGBI	0.012434	0.00136	N	-1.43535945841768	0.02334	0.1029532	-1.47605310603348	0.02542	0.1170878	0.992590014691921	0.32897	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.86	-2.73	0.05599	-0.155000	0.10101	-0.244000	0.10566	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5749:0.0:0.4251	9.249	0.36707	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	.	.	.	.	.	.	.	.	0.02632	2639.33	86	chr13	102731998	.	C	T	2639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.77;DP=1929;ExcessHet=0;FS=6.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.458;SOR=0.399	GT:AD:DP:GQ:PL	0/1:90,98:188:99:2653,0,2381	18	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:137,32:169:99:128,0,3393	5	0	11	3
chr14	24236051	24236051	A	G	exonic	GMPR2	.	nonsynonymous SNV	GMPR2:NM_001283022:exon4:c.A430G:p.I144V,GMPR2:NM_001283023:exon4:c.A292G:p.I98V,GMPR2:NM_016576:exon4:c.A430G:p.I144V,GMPR2:NM_001002000:exon5:c.A376G:p.I126V,GMPR2:NM_001002001:exon5:c.A376G:p.I126V,GMPR2:NM_001002002:exon5:c.A376G:p.I126V,GMPR2:NM_001351022:exon5:c.A376G:p.I126V,GMPR2:NM_001351023:exon5:c.A376G:p.I126V,GMPR2:NM_001283021:exon6:c.A268G:p.I90V,GMPR2:NM_001351024:exon6:c.A268G:p.I90V,GMPR2:NM_001351025:exon6:c.A268G:p.I90V,GMPR2:NM_001351026:exon6:c.A268G:p.I90V	.	429	1091	2	0	0	2	0.000915751	.	.	.	3678156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.298	0.00727185420928	.	0.000199681	6.625e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs201053509	2.943e-05	2.942e-05	2.043e-05	3.852e-05	0.0005	2.218e-05	1.971e-05	0.0003	0.0002	0	0	0	0	0	0.0005	1.8e-06	8.285e-05	0.0004	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.195	0.22486	T	0.166	0.37589	T	0.012	0.17786	B	0.03	0.21741	B	0.000002	0.62929	N	0.097108	1	0.81001	D	1.56	0.39490	L	-1.29	0.79475	T	-0.81	0.24026	N	0.448	0.48596	-0.4771	0.69472	T	0.385	0.74039	T	10	0.18162674	0.33404	T	0.007272	0.19280	T	0.298	0.61843	0.629	0.76478	0.833050719665	0.83146	0.607191763004463	0.60651	0.162207741549	0.18300	0.532127737999	0.43335	T	0.394997	0.75399	T	-0.244625	0.14764	T	-0.288839	0.45893	T	0.17336379193342	0.18806	T	.	.	.	0.21703075	0.44176	0.20580685	0.44767	0.21703075	0.44176	0.20580685	0.44766	-4.959	0.38830	T	.	.	0.133	0.36254	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.345702	0.46121	22.2	0.97341775597188407	0.33476	0.92549	0.55973	D	AEDBCI	0.837987	0.75556	D	0.00800146953383561	0.42218	2.539668	0.156220985378035	0.47471	2.976948	0.999999996390014	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.53	4.39	0.52211	7.158000	0.77057	6.189000	0.54741	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.924:0.0:0.076:0.0	10.606	0.44584	889	0.27310	IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;.;IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2625.33	33	chr14	24236051	.	A	G	2625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.855;DP=802;ExcessHet=0;FS=0.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.479;SOR=0.624	GT:AD:DP:GQ:PL	0/1:88,96:184:99:2639,0,2311	18	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	681.04	170	chr14	24300437	.	G	C	681.04	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-4.585;DP=2057;ExcessHet=1.3;FS=376.992;InbreedingCoeff=-0.281;MLEAC=7;MLEAF=0.269;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.41;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,33:121:99:.:.:119,0,2334:.	8	0	5	6
chr14	24323446	24323448	GAA	-	exonic	ADCY4	.	nonframeshift deletion	ADCY4:NM_001198568:exon17:c.2053_2055del:p.F685del,ADCY4:NM_001198592:exon18:c.2053_2055del:p.F685del,ADCY4:NM_139247:exon18:c.2053_2055del:p.F685del	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs750107602	4.425e-05	4.241e-05	4.367e-05	4.485e-05	0.0002	3.523e-05	3.198e-05	0.0001	9.36e-05	0	5.56e-05	0	0	0	0	4.075e-05	1.721e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2106.29	34	chr14	24323445	.	GGAA	G	2106.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=836;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-1.495;SOR=0.701	GT:AD:DP:GQ:PL	0/1:91,57:148:99:2120,0,3649	18	0	1	0
chr14	34762008	34762008	A	G	exonic	BAZ1A	.	nonsynonymous SNV	BAZ1A:NM_182648:exon23:c.T3896C:p.I1299T,BAZ1A:NM_013448:exon24:c.T3992C:p.I1331T	.	426	1094	2	0	0	2	0.000913242	.	.	.	3417506	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0176485815016	.	.	0.0001	0	8.637e-05	0	0	1.498e-05	0.0033	0.0005	9.06e-05	14	154602	rs764791271	5.267e-05	5.267e-05	3.403e-05	7.15e-05	0.0006	4.277e-05	3.952e-05	0.0005	0.0005	0	2.236e-05	0	0	0	0.0002	1.709e-05	1.656e-05	0.0006	3.285e-05	3.283e-05	1.284e-05	5.379e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.104	0.31088	T	0.443	0.13215	T	0.066	0.23586	B	0.036	0.22909	B	0.372015	0.13513	N	0.746964	0.968871	0.25781	N	1.5	0.37844	L	0.59	0.53943	T	-0.37	0.13226	N	0.076	0.11483	-1.0436	0.16236	T	0.088	0.34105	T	10	0.039155096	0.02384	T	0.017649	0.39432	T	0.056	0.15993	0.214	0.13354	0.312529679308	0.30857	0.3055768310387439	0.30470	0.826773948138	0.67443	0.534296870232	0.43639	T	0.017523	0.14282	T	-0.410107	0.01985	T	-0.466073	0.25940	T	0.0365639965504052	0.03079	T	0.876112	0.58827	D	0.06265436	0.13108	0.0550101	0.09568	0.06265436	0.13108	0.0550101	0.09568	-1.51	0.01785	T	.	.	0.119	0.24464	B	.;.;.	.;.;.	2.193939	0.27977	17.64	0.91118133720819949	0.20371	0.92087	0.54916	D	AEFBI	0.207336	0.33352	N	-0.400415006566563	0.25455	1.381905	-0.179946681551699	0.32274	1.834573	0.952320085042726	0.28009	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	4.87	0.62877	2.886000	0.48276	2.120000	0.30714	0.750000	0.87069	0.969000	0.34210	0.725000	0.26378	0.987000	0.62547	0.8754:0.0:0.0:0.1246	12.577	0.55719	960	0.08626	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1906.33	37	chr14	34762008	.	A	G	1906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.466;DP=802;ExcessHet=0;FS=1.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.047;SOR=0.551	GT:AD:DP:GQ:PL	0/1:89,70:159:99:1920,0,2627	18	0	1	0
chr14	38209435	38209435	C	A	exonic	SSTR1	.	nonsynonymous SNV	SSTR1:NM_001049:exon3:c.C46A:p.P16T	.	394	1127	0	1	0	2	0.000886525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0033	0.00279553	0.0020	0.0197	0.0023	0	0	0.0002	0	0.0002	0.0010737	166	154602	rs199534342	0.0004	0.0004	0.0004	0.0003	0.0117	0.0004	0.0004	0.0107	0.0103	0.0117	0.0012	0.0019	0	0	0.0006	2.498e-05	0.0009	8.053e-05	0.0036	0.0036	0.0038	0.0035	0.0121	0.0034	0.0033	0.0112	0.0109	0.0121	0	0.0020	0.0012	0	0	0	0.0001	0.0033	0	0.602	0.05601	T	0.554	0.09298	T	0.003	0.11197	B	0.002	0.06944	B	0.459121	0.12413	N	0.665940	0.672519	0.30351	N	0	0.06538	N	-0.45	0.69896	T	0.19	0.04947	N	0.173	0.18512	-0.9727	0.36627	T	0.086	0.33326	T	10	0.004221767	0.00084	T	.	.	.	0.059	0.16972	.	.	0.317526407968	0.31361	0.46935758922948667	0.46854	0.83572146944	0.67812	0.717450857162	0.69675	T	0.154705	0.49610	T	-0.456595	0.01032	T	-0.417612	0.31350	T	0.00925920437008236	0.00118	T	0.516848	0.16688	T	0.06851677	0.14934	0.061143484	0.11758	0.06851677	0.14934	0.061143484	0.11758	-6.518	0.50425	T	.	.	0.071	0.03698	B	.	.	3.109297	0.41930	21.4	0.94154256499164013	0.24354	0.65527	0.32767	D	AEFDBCI	0.131396	0.25032	N	-0.416627342420752	0.24886	1.346949	-0.213312674092008	0.31057	1.754133	0.999999808694057	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.17	3.18	0.35615	1.121000	0.30897	3.213000	0.36811	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2318:0.6723:0.0:0.096	6.091	0.19219	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004044	0.010309	0.004087	0.002924	0.000000	0.000000	0.003086	0.003788	0.02632	548.33	34	chr14	38209435	.	C	A	548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=635;ExcessHet=0;FS=4.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.374;SOR=0.223	GT:AD:DP:GQ:PL	0/1:24,22:46:99:562,0,681	18	0	1	0
chr14	44900712	44900712	C	T	exonic	C14orf28	.	nonsynonymous SNV	C14orf28:NM_001017923:exon2:c.C277T:p.L93F	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0203635828002	.	.	0.0005	0	8.687e-05	0	0	0	0	0.0033	0.0003622	56	154602	rs778844801	0.0002	0.0002	9.257e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0005	4.497e-06	0.0001	0.0030	4.597e-05	4.594e-05	0	9.401e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.35	0.34648	T	-3.67	0.70191	D	0.73	0.75283	-0.9004	0.47952	T	0.145	0.46895	T	10	0.05659944	0.06369	T	0.020364	0.42939	T	0.327	0.64926	0.264	0.20946	0.667032285117	0.66422	0.543342678449127	0.54260	0.301763760742	0.32512	.	.	.	0.128395	0.45601	T	-0.221362	0.17809	T	-0.0944252	0.63826	T	0.110968357339255	0.13523	T	0.922308	0.71764	D	0.7480163	0.80753	0.65343654	0.79715	0.7480163	0.80754	0.65343654	0.79716	-4.57	0.31792	T	.	.	0.469	0.66493	A	.;.	.;.	4.684612	0.75006	26.3	0.99812204626353473	0.89620	0.95682	0.65709	D	AEFBI	0.716391	0.66824	D	0.689623627872182	0.78953	6.976388	0.746144706364291	0.85870	8.710968	0.999999997955279	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.86	5.86	0.93936	6.484000	0.73529	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.052	0.89278	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.02632	1676.33	34	chr14	44900712	.	C	T	1676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.688;DP=775;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.53;SOR=0.629	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1690,0,1691	18	0	1	0
chr14	45226775	45226775	G	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon10:c.C1808A:p.T603K	.	877	636	8	1	0	10	0.00780031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	7.8e-05	0.00399361	0.0057	0	0	0	0	0.0013	0.0039	0.0164	0.0014295	221	154602	rs144591732	0.0012	0.0013	0.0007	0.0017	0.0156	0.0012	0.0011	0.0148	0.0145	3.758e-05	0.0003	0.0020	0	0	0.0034	0.0003	0.0015	0.0156	0.0010	0.0010	0.0006	0.0015	0.0168	0.0009	0.0008	0.0138	0.0128	7.223e-05	0	0.0004	0.0032	0	0	0.0103	0.0007	0.0014	0.0168	0.021	0.49117	D	0.051	0.47828	T	0.998	0.73220	D	0.863	0.61398	P	0.979405	0.07830	N	1.011430	0.514574	0.31619	N	1.78	0.46185	L	2.02	0.21119	T	-1.35	0.33598	N	0.131	0.12627	-0.9885	0.32978	T	0.083	0.32671	T	10	0.0066874623	0.00152	T	.	.	.	0.058	0.16647	.	.	0.344017737713	0.34012	0.17169480644439244	0.17089	0.0285527149791	0.02937	0.577752172947	0.49770	T	0.002494	0.01884	T	-0.494596	0.00613	T	-0.470906	0.25418	T	0.0670183516689708	0.08227	T	0.412859	0.10744	T	0.07779437	0.17678	0.10648939	0.25619	0.07779437	0.17678	0.10648939	0.25619	-2.134	0.03732	T	.	.	0.1	0.17146	B	.	.	2.316029	0.29649	18.19	0.9555788179128617	0.27231	0.69889	0.34367	D	AEFBI	0.100684	0.20239	N	0.261643419797473	0.54217	3.587877	0.193644771548225	0.49497	3.152246	0.00906498830387248	0.11790	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	3.91	2.94	0.33188	1.593000	0.36297	1.219000	0.24962	0.590000	0.31872	0.987000	0.36337	0.910000	0.28117	0.990000	0.65344	0.2161:0.0:0.7839:0.0	5.273	0.14948	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007128	0.005155	0.005464	0.005882	0.000000	0.008772	0.015625	0.000000	0.02632	922.33	33	chr14	45226775	.	G	T	922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=693;ExcessHet=0;FS=3.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.508;SOR=1.159	GT:AD:DP:GQ:PL	0/1:38,34:72:99:936,0,996	18	0	1	0
chr14	47097015	47097015	G	A	exonic	MDGA2	.	nonsynonymous SNV	MDGA2:NM_001113498:exon6:c.C827T:p.T276I,MDGA2:NM_182830:exon6:c.C140T:p.T47I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00683297824758	.	.	8.294e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs751457673	4.106e-06	4.104e-06	1.362e-06	6.878e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.996e-07	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.265	0.22694	T	0.011	0.15914	B	0.068	0.27651	B	0.024778	0.26205	U	0.259021	0.998188	0.44603	D	1.46	0.36832	L	2.65	0.12676	T	-2.02	0.46503	N	0.618	0.63374	-1.0901	0.05515	T	0.037	0.15943	T	10	0.32823175	0.50095	T	0.006833	0.18065	T	0.193	0.47281	0.576	0.70087	0.379214838424	0.37538	0.5944270606555955	0.59372	0.402835054821	0.41226	0.581320405006	0.50272	T	0.042219	0.26113	T	-0.223598	0.17504	T	-0.377431	0.36023	T	0.64834588766098	0.38391	D	0.877512	0.59164	D	0.102744624	0.24279	0.1319891	0.31682	0.102744624	0.24279	0.1319891	0.31681	-7.723	0.60428	D	.	.	0.123	0.25882	B	.;.;.	.;.;.	3.179002	0.43146	21.7	0.76721073916559845	0.11582	0.94583	0.61639	D	AEFI	0.680363	0.64408	D	-0.0270059808365772	0.40636	2.416557	0.125093100454003	0.45836	2.839799	0.00401562855349561	0.10381	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	4.75	0.59954	3.637000	0.54065	9.724000	0.81376	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.077:0.1478:0.7752:0.0	9.221	0.36537	818	0.41518	.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	880.33	35	chr14	47097015	.	G	A	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.852;DP=739;ExcessHet=0;FS=6.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=-0.678;SOR=1.166	GT:AD:DP:GQ:PL	0/1:77,36:113:99:894,0,2191	18	0	1	0
chr14	49635130	49635130	G	A	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.C20T:p.S7F,DNAAF2:NM_018139:exon1:c.C20T:p.S7F	Ciliary dyskinesia, primary, 10	1	1508	12	1	0	14	0.00462046	.	.	.	213111	not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_10	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0101136859413	.	0.000199681	0.0035	0	0	0	0	0.0003	0	0.0083	0.0006274	97	154602	rs577796590	0.0004	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	8.074e-05	0	0	0	0.0027	2.118e-05	0.0004	0.0054	0.0002	0.0002	6.421e-05	0.0003	0.0046	0.0001	9.229e-05	0.0031	0.0026	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0046	0.05	0.51248	D	0.009	0.66756	D	0.984	0.63424	D	0.819	0.64797	P	.	.	.	.	0.503356	0.31707	N	1.995	0.54099	M	2.13	0.19588	T	-2.59	0.55821	D	0.252	0.37509	-0.9685	0.37510	T	0.101	0.37366	T	9	0.009665161	0.00217	T	0.010114	0.26258	T	0.087	0.25287	0.236	0.16608	0.72927479191	0.72687	0.32184284644197647	0.32097	1.49514861928	0.86947	0.454433053732	0.32550	T	0.009171	0.08364	T	-0.424665	0.01598	T	-0.380721	0.35636	T	0.161524948219995	0.17983	T	0.788521	0.42806	T	0.25770622	0.48816	0.41075352	0.65327	0.2703388	0.50106	0.38223016	0.63215	-7.294	0.56622	T	0.6279663289246598	0.69704	0.181	0.40213	B	.;.	.;.	3.636900	0.51541	23.1	0.99738282586439153	0.83264	0.80795	0.40343	D	ALL	0.217682	0.34278	N	0.323490202971488	0.57354	3.902628	0.287540932565007	0.54810	3.645087	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.28	5.28	0.74118	3.153000	0.50383	7.391000	0.58514	0.526000	0.24426	0.991000	0.37257	1.000000	0.68203	0.168000	0.20914	0.0:0.0:1.0:0.0	17.153	0.86663	840	0.37365	PIH1 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	0.003550	0.000000	0.005479	0.002941	0.000000	0.000000	0.003086	0.003846	0.05263	1597.83	40	chr14	49635130	.	G	A	1597.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.42;DP=775;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.141;SOR=0.698	GT:AD:DP:GQ:PL	0/1:29,33:62:99:878,0,661	17	0	2	0
chr14	52028763	52028763	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon11:c.G2489A:p.R830Q	.	427	1043	45	7	0	59	0.0275058	.	.	.	3500838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.182	.	0.0112	0.0177716	0.0084	0.0187	0.0060	0.0216	0.0006	0.0045	0.0066	0.0158	0.0079947	1236	154602	rs7144523	0.0056	0.0056	0.0051	0.0060	0.0454	0.0055	0.0054	0.0409	0.0392	0.0171	0.0063	0.0249	0.0349	0.0015	0.0454	0.0026	0.0090	0.0169	0.0090	0.0090	0.0086	0.0094	0.0306	0.0086	0.0084	0.0268	0.0253	0.0163	0	0.0073	0.0210	0.0306	0.0012	0.0374	0.0033	0.0113	0.0153	0.617	0.05357	T	0.72	0.06147	T	0.032	0.20242	B	0.008	0.13708	B	0.075333	0.21230	N	0.558460	0.995152	0.24245	N	0.4	0.12274	N	-2.2	0.86888	D	0.23	0.04613	N	0.125	0.11769	-0.7669	0.57027	T	0.156	0.48772	T	10	0.0041407347	0.00082	T	.	.	.	0.182	0.45420	.	.	0.629173233237	0.62614	0.2754759937405691	0.27460	0.106631379712	0.12050	0.237848654389	0.02599	T	0.117612	0.43781	T	-0.398745	0.02360	T	-0.306817	0.44000	T	0.00933876780114129	0.00119	T	0.876412	0.60266	D	0.06400333	0.13534	0.036218125	0.03024	0.06400333	0.13534	0.036218125	0.03024	-2.335	0.04750	T	.	.	0.083	0.09191	B	.;.	.;.	2.030002	0.25802	16.89	0.98198910300172382	0.39105	0.04564	0.10207	N	AEFBI	0.053034	0.09519	N	-0.435810968365076	0.24223	1.306472	-0.325364618916186	0.27281	1.512757	0.999937259810121	0.46732	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.94	3.84	0.43422	-0.460000	0.06797	-1.340000	0.05675	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.898000	0.43474	0.1766:0.3843:0.3298:0.1093	2.629	0.04639	899	0.25060	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	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	0.034240	0.010101	0.036685	0.078947	0.000000	0.025862	0.018293	0.022727	0.05263	4833.83	56	chr14	52028763	.	C	T	4833.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.76;DP=1031;ExcessHet=0.119;FS=6.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=1.04;SOR=0.998	GT:AD:DP:GQ:PL	0/1:61,106:167:99:2696,0,1280	17	0	2	0
chr14	55044322	55044325	AGTT	-	exonic	SOCS4	.	frameshift deletion	SOCS4:NM_080867:exon2:c.1281_1284del:p.V428Efs*21,SOCS4:NM_199421:exon3:c.1281_1284del:p.V428Efs*21	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.116e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs749490375	4.859e-05	4.857e-05	1.771e-05	7.98e-05	0.0008	3.928e-05	3.606e-05	0.0006	0.0006	0	0	0	0	0	0.0004	8.996e-07	3.313e-05	0.0008	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05263	2107.79	33	chr14	55044321	.	AAGTT	A	2107.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.19;DP=737;ExcessHet=0.119;FS=3.421;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=0.547;SOR=1.017	GT:AD:DP:GQ:PL	0/1:38,22:60:99:810,0,1529	17	0	2	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:48,24:72:99:123,0,873	3	0	16	0
chr14	60149352	60149352	C	T	splicing	DHRS7	NM_016029:exon6:c.972+1G>A;NM_001322281:exon6:c.552+1G>A;NM_001322282:exon5:c.732+1G>A;NM_001322280:exon6:c.822+1G>A	.	.	.	423	1097	2	0	0	2	0.000910747	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000199681	0.0004	9.632e-05	8.684e-05	0	0	0.0004	0.0011	0.0007	0.0003169	49	154602	rs138163363	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	0	0.0007	0.0003	0	0	0.0019	0.0002	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0005	7.221e-05	0	0.0010	0.0003	0	0	0	0.0003	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212544	0.75069	D	0.447023	0.93507	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.513117	0.91703	32	0.9954963587375818	0.71023	0.98877	0.88048	D	AEFBI	0.895724	0.83605	D	1.21752790176546	0.99695	25.38	1.08132610086352	0.99673	25.08292	0.999999999999971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.7	5.7	0.88690	7.830000	0.84907	4.805000	0.44998	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.825	0.96608	598	0.68232	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2068.33	39	chr14	60149352	.	C	T	2068.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=856;ExcessHet=0;FS=3.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.49;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,58:159:99:0|1:60149352_C_T:2082,0,4039:60149352	18	0	1	0
chr14	60149357	60149357	C	T	exonic	DHRS7	.	nonsynonymous SNV	DHRS7:NM_001322282:exon5:c.G728A:p.G243D,DHRS7:NM_001322280:exon6:c.G818A:p.G273D,DHRS7:NM_001322281:exon6:c.G548A:p.G183D,DHRS7:NM_016029:exon6:c.G968A:p.G323D	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0227437576549	0.0006	0.000199681	0.0004	9.63e-05	8.679e-05	0	0	0.0004	0.0011	0.0007	0.0003234	50	154602	rs143781219	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	0	0.0007	0.0003	0	0	0.0019	0.0002	0.0004	0.0005	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0007	0.0005	7.22e-05	0	0.0010	0.0003	0	0	0	0.0003	0.0005	0.0006	0.059	0.37536	T	0.03	0.54159	D	0.994	0.66517	D	0.762	0.56524	P	.	.	.	.	0.999997	0.81001	D	2.835	0.82492	M	-1.83	0.84122	D	-2.65	0.56787	D	0.535	0.58202	-0.1893	0.77945	T	0.405	0.75543	T	9	0.11313254	0.21243	T	0.022744	0.45666	T	0.508	0.78848	.	.	0.994172143065	0.99411	0.18733541031747386	0.18651	0.0729669505024	0.08176	0.571070194244	0.48829	T	0.030935	0.21808	T	-0.157255	0.27185	T	-0.0841676	0.64598	T	0.0890367925167084	0.11102	T	0.90401	0.66351	D	0.1661669	0.36935	0.29843032	0.55876	0.1661669	0.36935	0.29843032	0.55875	-6.503	0.50310	T	.	.	0.271	0.50763	B	.;.;.	.;.;.	3.033760	0.40645	21.2	0.98856792684159978	0.47390	0.95760	0.66038	D	AEFBI	0.607343	0.59734	D	0.346038823759403	0.58530	4.025851	0.343857815068353	0.58138	3.982722	0.999999976889343	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	4.8	0.61157	4.046000	0.57088	-0.209000	0.10871	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.997000	0.79791	0.0:0.9251:0.0:0.0749	13.702	0.62095	598	0.68232	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.02632	2088.33	39	chr14	60149357	.	C	T	2088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=860;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.26;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,58:161:99:0|1:60149352_C_T:2102,0,4129:60149352	18	0	1	0
chr14	63313076	63313076	C	T	exonic	GPHB5	.	nonsynonymous SNV	GPHB5:NM_145171:exon3:c.G245A:p.R82Q	.	428	1066	26	2	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00379393	0.0062	0.0005	0.0004	0.0002	0.0042	0.0036	0.0108	0.0251	0.0036093	558	154602	rs202152731	0.0030	0.0030	0.0024	0.0036	0.0212	0.0029	0.0029	0.0204	0.0200	0.0002	0.0003	7.708e-05	0	0.0012	0.0073	0.0020	0.0033	0.0212	0.0022	0.0022	0.0017	0.0026	0.0193	0.0020	0.0019	0.0162	0.0150	9.637e-05	0	0.0005	0.0003	0	0.0021	0.0034	0.0029	0.0009	0.0193	.	.	.	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.41261	.	.	.	.	.	.	.	0.008682966	0.00197	T	.	.	.	.	.	.	.	0.246215685461	0.24236	0.6783049580709183	0.67769	.	.	0.426724642515	0.28760	T	0.403791	0.76044	T	-0.294854	0.09153	T	-0.180718	0.56457	T	.	.	.	0.934107	0.75346	D	0.2452297	0.47479	0.48068875	0.69926	0.2452297	0.47479	0.48068875	0.69926	-4.988	0.36709	T	.	.	0.086	0.10835	B	.;.	.;.	3.807114	0.54888	23.5	0.91516162854793026	0.20791	0.95391	0.64536	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999999913513	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.075334	0.01956	0	0.983985	0.90998	5.85	5.85	0.93663	4.416000	0.59567	1.106000	0.24114	0.599000	0.40250	0.998000	0.41325	0.668000	0.26052	1.000000	0.97212	0.0:1.0:0.0:0.0	20.159	0.98128	834	0.38640	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	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	0.006048	0.000000	0.004076	0.005848	0.000000	0.000000	0.003067	0.015152	0.02632	2592.33	35	chr14	63313076	.	C	T	2592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=831;ExcessHet=0;FS=1.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.611;SOR=0.83	GT:AD:DP:GQ:PL	0/1:91,103:194:99:2606,0,2024	18	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,25:109:99:0|1:64158707_T_C:157,0,2462:64158707	2	0	15	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1526.87	42	chr14	64158708	.	G	A	1526.87	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,25:109:99:0|1:64158707_T_C:157,0,2462:64158707	15	0	3	1
chr14	64468430	64468430	C	G	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.C36G:p.N12K	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0100165655719	0.0008	0.000599042	0.0010	0.0003	0.0003	0	0	0.0010	0.0023	0.0033	0.0009961	154	154602	rs61755983	0.0009	0.0009	0.0007	0.0010	0.0047	0.0008	0.0008	0.0041	0.0040	0.0003	0.0003	3.883e-05	0	0	0.0047	0.0007	0.0009	0.0045	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0002	0	0.0003	0	0	0	0.0034	0.0009	0.0005	0.0027	0.029	0.45756	D	0.148	0.32675	T	0.501	0.37169	P	0.086	0.29521	B	0.004005	0.34221	N	0.252498	1	0.81001	D	1.67	0.42885	L	1.8	0.25344	T	-3.32	0.66085	D	0.14	0.13911	-1.0433	0.16324	T	0.028	0.12058	T	10	0.008371741	0.00190	T	0.010017	0.26057	T	0.041	0.10877	0.253	0.19223	0.599568711273	0.59638	0.15461105324369417	0.15382	0.254738684408	0.28049	0.371361285448	0.21027	T	0.735101	0.92617	D	-0.579912	0.00193	T	-0.606936	0.12236	T	0.0462862226696592	0.04835	T	0.562644	0.19782	T	0.16680238	0.37038	0.22020969	0.46788	0.16680238	0.37038	0.22020969	0.46787	-3.12	0.11527	T	.	.	0.308	0.54235	B	.;.	.;.	2.003840	0.25460	16.77	0.98676538682533266	0.44554	0.84406	0.43488	D	AEFGBI	0.216599	0.34182	N	-0.250678006836125	0.31077	1.738987	-0.147237804714883	0.33514	1.917915	0.999966973416111	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	2.43	0.28797	0.270000	0.18372	-0.154000	0.11389	-0.176000	0.10722	0.963000	0.33788	0.109000	0.22772	0.956000	0.50813	0.0:0.6514:0.1488:0.1998	5.809	0.17720	399	0.82780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.003049	0.022727	0.05263	1658.83	35	chr14	64468430	.	C	G	1658.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.438;DP=724;ExcessHet=0.119;FS=0.663;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.74;SOR=0.598	GT:AD:DP:GQ:PL	0/1:43,32:75:99:730,0,1101	17	0	2	0
chr14	64550067	64550067	-	T	splicing	PPP1R36	NM_172365:exon1:c.69+1->T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0	0	0.0017	0.00011	17	154602	rs759252957	0.0001	0.0001	6.597e-05	0.0002	0.0020	0.0001	9.775e-05	0.0017	0.0016	3.121e-05	0	0	0	0	0.0002	0	0.0001	0.0020	3.282e-05	3.281e-05	0	6.711e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	979.29	39	chr14	64550067	.	G	GT	979.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.551;SOR=0.708	GT:AD:DP:GQ:PL	0/1:45,33:78:99:993,0,1433	18	0	1	0
chr14	67783430	67783430	C	T	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon21:c.G3722A:p.R1241Q	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	272829	not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|Hereditary_spastic_paraplegia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.00398806377251	0.0025	0.00139776	0.0028	0.0004	0.0018	0	0.0023	0.0040	0.0055	0.0021	0.0028266	437	154602	rs140756827	0.0033	0.0033	0.0032	0.0035	0.0258	0.0032	0.0032	0.0225	0.0212	0.0006	0.0031	0.0103	2.519e-05	0.0014	0.0258	0.0032	0.0050	0.0034	0.0026	0.0026	0.0027	0.0026	0.0044	0.0024	0.0023	0.0036	0.0033	0.0004	0	0.0044	0.0089	0	0.0011	0.0136	0.0035	0.0066	0.0033	0.126	0.28026	T	0.096	0.39799	T	0.992	0.64738	D	0.579	0.50152	P	0.888350	0.08705	N	0.940006	0.999901	0.19694	N	.	.	.	1.73	0.29085	T	-0.9	0.24244	N	0.054	0.02559	-1.0229	0.22769	T	0.053	0.22346	T	10	0.004694402	0.00099	T	0.003988	0.09462	T	0.111	0.31313	.	.	0.0401082797425	0.02173	0.10019050022814473	0.09950	0.189727535353	0.21295	0.199811726809	0.00451	T	0.011711	0.10405	T	-0.628677	0.00097	T	-0.674874	0.07299	T	0.0175978062271406	0.00492	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.;.	.;.	0.215849	0.05988	2.429	0.98064975150461631	0.37975	0.03751	0.09056	N	AEFDGBI	0.085768	0.17389	N	-1.19752000019068	0.05038	0.2287309	-1.51220344515791	0.02250	0.1031851	0.999992551724546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-10.9	0.00151	-0.433000	0.07017	-2.135000	0.04161	-0.852000	0.02700	0.010000	0.18352	0.000000	0.08366	0.017000	0.10941	0.3101:0.2991:0.0:0.3909	5.626	0.16761	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.023690	0.005051	0.027174	0.035088	0.000000	0.025862	0.030675	0.007576	0.05263	2296.83	33	chr14	67783430	.	C	T	2296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.64;DP=818;ExcessHet=0.119;FS=0.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.28;SOR=0.755	GT:AD:DP:GQ:PL	0/1:39,31:70:99:816,0,940	17	0	2	0
chr14	70976961	70976961	G	C	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.G624C:p.K208N,PCNX1:NM_014982:exon6:c.G624C:p.K208N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0157206283292	.	0.000798722	0.0006	0	0	0	0	0	0	0.0046	0.0005304	82	154602	rs575082538	0.0003	0.0003	0.0002	0.0003	0.0040	0.0002	0.0002	0.0036	0.0035	2.993e-05	0	0	0	0	0	7.205e-06	0.0003	0.0040	8.536e-05	8.53e-05	2.57e-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	0.026	0.46910	D	0.438	0.13403	T	0.999	0.77913	D	0.991	0.79672	D	0.000011	0.62929	D	0.110266	0.998805	0.45475	D	1.845	0.48678	L	0.93	0.44065	T	-0.73	0.21860	N	0.615	0.63544	-1.0080	0.27541	T	0.136	0.45184	T	10	0.009058386	0.00205	T	0.015721	0.36608	T	0.134	0.36365	0.221	0.14371	0.082315109003	0.07666	0.4182032639389791	0.41736	0.564902044119	0.52854	0.604920506477	0.53599	T	0.113175	0.43000	T	-0.432021	0.01441	T	-0.393489	0.34142	T	0.116555453859866	0.14089	T	0.878912	0.59457	D	0.0944096	0.22196	0.09320041	0.22002	0.0944096	0.22195	0.09320041	0.22002	-4.036	0.25394	T	.	.	0.411	0.71059	A	.;.	.;.	3.320320	0.45663	22.2	0.98620815014639696	0.43771	0.98471	0.83126	D	AEFGBI	0.529797	0.55076	D	0.171779893520868	0.49846	3.181	0.178528253011861	0.48671	3.079993	0.999921017332947	0.46280	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	2.86	0.32427	3.848000	0.55612	3.467000	0.38554	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2201:0.0:0.7799:0.0	9.357	0.37336	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1994.33	33	chr14	70976961	.	G	C	1994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.158;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.29;SOR=0.664	GT:AD:DP:GQ:PL	0/1:91,77:168:99:2008,0,2457	18	0	1	0
chr14	73272565	73272565	G	C	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon26:c.G3690C:p.L1230F,PAPLN:NM_173462:exon26:c.G3657C:p.L1219F,PAPLN:NM_001365906:exon27:c.G3738C:p.L1246F	.	418	1101	3	0	0	3	0.00136054	.	.	.	2337518	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.0399330253469	.	.	9.946e-05	0	8.642e-05	0	0	0.0002	0	0	8.41e-05	13	154602	rs538710096	7.238e-05	7.388e-05	5.47e-05	9.034e-05	0.0023	6.093e-05	5.637e-05	0.0013	0.0011	0.0002	0.0002	0	0	0	0.0023	5.894e-05	0.0002	4.659e-05	0.0001	0.0001	6.421e-05	0.0002	0.0007	8.663e-05	7.255e-05	0.0004	0.0003	2.412e-05	0	0.0007	0	0	0	0	8.818e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.906565	0.81001	D	3.175	0.88760	M	0.47	0.56114	T	-2.88	0.60507	D	0.399	0.63204	-0.1879	0.77981	T	0.368	0.72834	T	9	0.37232792	0.53571	T	0.039933	0.59093	D	0.404	0.71714	0.519	0.62066	0.550759897685	0.54733	0.5937914585599414	0.59309	0.777429178935	0.65112	0.631005764008	0.57288	T	0.093955	0.39318	T	-0.17273	0.24822	T	-0.192404	0.55365	T	0.402377009391785	0.29031	T	0.877212	0.59013	D	0.30185458	0.53070	0.34598064	0.60272	0.30185458	0.53070	0.34598064	0.60272	-11.157	0.80512	D	.	.	0.376	0.68206	A	.;.;.;.	.;.;.;.	4.023538	0.59445	24.1	0.99862014944447541	0.94002	0.92704	0.56342	D	AEFDGBI	0.421224	0.48773	N	0.54776638638733	0.69945	5.429912	0.460972441216428	0.65425	4.822151	0.999494147421785	0.40007	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.54	3.66	0.41111	2.719000	0.46913	7.258000	0.57951	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.3952:0.6048:0.0	15.536	0.75742	751	0.51694	PLAC|PLAC;.;PLAC|PLAC;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	959.33	35	chr14	73272565	.	G	C	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.812;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.795;SOR=0.735	GT:AD:DP:GQ:PL	0/1:28,39:67:99:973,0,750	18	0	1	0
chr14	74486431	74486431	C	T	exonic	NPC2	.	nonsynonymous SNV	NPC2:NM_001363688:exon2:c.G88A:p.V30M,NPC2:NM_001375440:exon2:c.G88A:p.V30M,NPC2:NM_006432:exon2:c.G88A:p.V30M	Niemann-pick disease, type C2, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	181440	Brain_atrophy|Seizure|Global_developmental_delay|Microcephaly|not_specified|Niemann-Pick_disease,_type_C2|not_provided	Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584|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|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|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:CN169374|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.490	0.107051375347	0.0019	0.000998403	0.0031	0.0004	0.0019	0	0	0.0040	0.0078	0.0042	0.0014101	218	154602	rs151220873	0.0014	0.0014	0.0012	0.0016	0.0124	0.0013	0.0013	0.0101	0.0092	0.0005	0.0010	0.0189	0	0	0.0124	0.0007	0.0029	0.0049	0.0013	0.0013	0.0013	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0003	0	0.0009	0.0193	0.0002	0	0.0136	0.0012	0.0014	0.0050	0.111	0.32929	T	0.112	0.37589	T	0.921	0.51088	P	0.667	0.53020	P	0.001644	0.00810	N	3.062020	1	0.08975	N	1.32	0.33002	L	-0.92	0.75108	T	-0.34	0.15178	N	0.694	0.69913	-0.5348	0.67360	T	0.323	0.69186	T	10	0.0055167973	0.00122	T	0.107051	0.78294	D	0.490	0.77720	.	.	0.419957187557	0.41612	0.4148785368595371	0.41403	1.05498303167	0.76294	0.248564392328	0.03618	T	0.164713	0.70663	T	-0.280629	0.10601	T	-0.17534	0.56954	T	0.0604724534897135	0.07243	T	0.768523	0.39806	T	0.15376896	0.34838	0.120965846	0.29188	0.15767485	0.35515	0.072921336	0.15786	-5.909	0.45512	T	0.34427084161464777	0.44184	0.123	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.142092	0.15295	11.74	0.98776408867178389	0.46049	0.02808	0.07534	N	AEFGBI	0.158835	0.28454	N	-0.980824699310848	0.09013	0.4248764	-1.20699484781859	0.05797	0.2772181	0.999999670044353	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.54	-7.82	0.01069	-1.967000	0.01598	-3.068000	0.03090	-0.912000	0.02253	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0857:0.1184:0.3405:0.4555	4.464	0.11100	368	0.84463	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;.;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML 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	1	0	1	0	0.009635	0.005208	0.008152	0.005848	0.000000	0.017241	0.015432	0.003788	0.05263	1455.83	42	chr14	74486431	.	C	T	1455.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.048;DP=753;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.118;SOR=0.665	GT:AD:DP:GQ:PL	0/1:39,29:68:99:712,0,1021	17	0	2	0
chr14	75579105	75579105	G	C	exonic	FLVCR2	.	nonsynonymous SNV	FLVCR2:NM_017791:exon1:c.G133C:p.V45L	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00657782177536	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1013248578	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.20988	T	0.399	0.15059	T	0.0	0.02946	B	0.001	0.04355	B	0.084893	0.20672	N	0.451695	0.935306	0.26947	N	0.695	0.17993	N	1.57	0.29342	T	-0.5	0.15782	N	0.097	0.07811	-1.0787	0.07602	T	0.040	0.17106	T	10	0.07483441	0.11488	T	0.006578	0.17358	T	0.016	0.02506	0.214	0.13354	0.237489013734	0.23353	0.5081012930092472	0.50732	0.298065659197	0.32188	0.533498704433	0.43527	T	0.01594	0.13275	T	-0.28487	0.10158	T	-0.646973	0.09168	T	0.120119668543339	0.14442	T	0.70183	0.31167	T	0.04455234	0.07143	0.057172794	0.10345	0.04455234	0.07142	0.057172794	0.10345	-7.14	0.55049	T	.	.	0.107	0.20038	B	.	.	3.049178	0.40908	21.3	0.98910503825212426	0.48363	0.56772	0.30203	D	AEFDGBCI	0.147370	0.27102	N	-0.595436414015091	0.19082	0.9959463	-0.445078909191676	0.23689	1.293165	0.999999283146346	0.74766	0.652421	0.48094	0	0.475579	0.06741	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.29	2.46	0.29032	2.780000	0.47429	0.045000	0.13922	-0.120000	0.14102	0.986000	0.36153	0.000000	0.08366	0.886000	0.42526	0.1016:0.1901:0.7083:0.0	6.110	0.19317	99	0.95913	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2578.33	34	chr14	75579105	.	G	C	2578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.088;DP=1899;ExcessHet=0;FS=5.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.664;SOR=0.429	GT:AD:DP:GQ:PL	0/1:121,104:225:99:2592,0,3020	18	0	1	0
chr14	76177923	76177923	C	T	exonic	GPATCH2L	.	stopgain	GPATCH2L:NM_017972:exon6:c.C1084T:p.R362X,GPATCH2L:NM_001322026:exon7:c.C1084T:p.R362X	.	469	1019	30	4	0	38	0.0183044	.	.	.	2810561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	0.00359425	0.0045	0.0017	0.0049	0	0.0003	0.0053	0.0166	0.0061	0.0043855	678	154602	rs117516637	0.0042	0.0043	0.0040	0.0044	0.0327	0.0041	0.0041	0.0288	0.0273	0.0013	0.0062	0.0080	0	0.0005	0.0327	0.0040	0.0062	0.0060	0.0038	0.0038	0.0040	0.0037	0.0077	0.0036	0.0035	0.0066	0.0062	0.0011	0	0.0077	0.0095	0.0002	0	0.0306	0.0049	0.0061	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.408	0.44857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.303757	0.08310	T	-0.206491	0.54031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.767942	0.54107	23.4	0.9969627417015734	0.80316	0.92029	0.54788	D	AEFGBI	0.113998	0.22470	N	-0.146814314135127	0.35369	2.030754	-0.0591147514923771	0.37098	2.167655	0.999986360647847	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.2	4.32	0.50899	2.830000	0.47837	4.035000	0.41373	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9213:0.0:0.0787	12.347	0.54450	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022659	0.030303	0.023098	0.023392	0.050000	0.008621	0.027439	0.015152	0.05263	1918.83	34	chr14	76177923	.	C	T	1918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.246;DP=785;ExcessHet=0.119;FS=3.862;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.71;SOR=0.439	GT:AD:DP:GQ:PL	0/1:39,39:78:99:1078,0,1165	17	0	2	0
chr14	81277710	81277710	T	C	exonic	STON2	.	nonsynonymous SNV	STON2:NM_001256430:exon6:c.A1601G:p.N534S,STON2:NM_001366850:exon6:c.A1601G:p.N534S,STON2:NM_001366849:exon7:c.A1772G:p.N591S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00498095861907	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247887777	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.20988	T	0.325	0.18846	T	0.065	0.23521	B	0.01	0.14941	B	0.012733	0.29074	N	0.370235	0.968842	0.25782	N	0.345	0.11182	N	2.74	0.11730	T	-1.94	0.49519	N	0.07	0.04426	-0.9953	0.31218	T	0.018	0.07612	T	10	0.11210239	0.21016	T	0.004981	0.12566	T	0.070	0.20419	0.455	0.51938	0.123314135267	0.11883	0.12203131957384818	0.12130	0.0827273509579	0.09334	0.299186468124	0.10280	T	0.01872	0.15043	T	-0.433526	0.01412	T	-0.763653	0.02983	T	0.0427731751996156	0.04196	T	0.904909	0.66542	D	0.07787153	0.17701	0.088299885	0.20580	0.07787153	0.17701	0.088299885	0.20580	-4.978	0.36600	T	.	.	0.055	0.00553	B	.;.;.;.	.;.;.;.	1.235582	0.16305	12.46	0.80109914453132158	0.13049	0.45853	0.27630	N	AEGBI	0.169875	0.29674	N	-0.669843954429458	0.16884	0.8641843	-0.579433578627167	0.20030	1.07733	0.997232308530189	0.35404	0.651	0.46895	0	0.547309	0.14657	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.91	0.045	0.13548	1.384000	0.34003	0.079000	0.14366	0.665000	0.62972	0.539000	0.27259	0.009000	0.19889	0.995000	0.73285	0.0:0.2869:0.0:0.7131	11.093	0.47346	586	0.69252	.;.;.;Stonin homology	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2496.33	33	chr14	81277710	.	T	C	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.613;DP=1115;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.459;SOR=0.582	GT:AD:DP:GQ:PL	0/1:83,96:179:99:2510,0,2137	18	0	1	0
chr14	90780822	90780822	C	T	exonic	TTC7B	.	nonsynonymous SNV	TTC7B:NM_001010854:exon3:c.G361A:p.A121T,TTC7B:NM_001320421:exon3:c.G55A:p.A19T	.	.	.	.	.	.	.	.	.	.	.	3925338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0112901461546	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs758500485	8.893e-06	8.893e-06	6.806e-06	1.1e-05	4.637e-05	4.96e-06	3.82e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.093e-06	0	4.637e-05	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.163	0.65419	T	0.186	0.92824	T	0.915	0.50599	P	0.146	0.33945	B	0.000207	0.47681	D	0.224664	0.980185	0.39640	D	1.7	0.43825	L	1.21	0.37230	T	-1.43	0.62151	N	0.307	0.34659	-1.0769	0.07962	T	0.058	0.24242	T	10	0.17173254	0.31909	T	0.01129	0.28764	T	0.099	0.28413	0.464	0.53404	0.218628672733	0.21463	0.12113096934063709	0.12040	0.444185373145	0.44332	0.383394122124	0.22737	T	0.069922	0.33832	T	-0.100103	0.36408	T	-0.381568	0.35538	T	0.825592219829559	0.48192	D	0.950405	0.81010	D	0.15294462	0.34692	0.11069505	0.26695	0.15294462	0.34692	0.11069505	0.26694	-6.268	0.48469	T	.	.	0.067	0.07177	B	.;.;.	.;.;.	3.371065	0.46582	22.3	0.99873914171337319	0.95160	0.61193	0.31413	D	AEFDBI	0.223660	0.34799	N	-0.104756201148694	0.37184	2.159788	-0.0473485108928808	0.37604	2.204	0.997610206511734	0.35820	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	4.76	0.60189	0.571000	0.23372	4.044000	0.41450	0.599000	0.40250	0.274000	0.25084	0.999000	0.35428	0.973000	0.55318	0.1333:0.8667:0.0:0.0	16.330	0.82842	602	0.67834	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1363.33	35	chr14	90780822	.	C	T	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.255;DP=719;ExcessHet=0;FS=8.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.57;SOR=0.251	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1377,0,1042	18	0	1	0
chr14	91189060	91189060	C	G	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon9:c.C1085G:p.A362G,DGLUCY:NM_001286471:exon9:c.C1070G:p.A357G,DGLUCY:NM_001358310:exon9:c.C1085G:p.A362G,DGLUCY:NM_001358311:exon9:c.C1070G:p.A357G,DGLUCY:NM_001358312:exon9:c.C1085G:p.A362G,DGLUCY:NM_024952:exon9:c.C1070G:p.A357G,DGLUCY:NM_001102367:exon10:c.C1070G:p.A357G,DGLUCY:NM_001102366:exon11:c.C1070G:p.A357G,DGLUCY:NM_001102369:exon11:c.C1034G:p.A345G,DGLUCY:NM_001286472:exon11:c.C1085G:p.A362G,DGLUCY:NM_001286470:exon12:c.C1085G:p.A362G	.	437	1078	6	1	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	.	0.00279553	0.0020	0	0.0006	0	0	4.498e-05	0.0033	0.0142	0.0017529	271	154602	rs201585097	0.0009	0.0009	0.0005	0.0014	0.0146	0.0009	0.0009	0.0139	0.0136	0	0.0002	0	5.038e-05	1.872e-05	0.0009	3.867e-05	0.0009	0.0146	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.406e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0114	0.006	0.63226	D	0.011	0.92824	D	0.322	0.39417	B	0.095	0.37394	B	0.000003	0.62929	N	0.060313	0.999952	0.52396	D	.	.	.	1.55	0.29866	T	-3.0	0.63901	D	0.404	0.44474	-0.4182	0.71450	T	0.248	0.61704	T	10	0.005717635	0.00127	T	.	.	.	0.246	0.55340	0.501	0.59304	0.381071309025	0.37720	0.6348405987612734	0.63418	0.155099505343	0.17514	.	.	.	0.054072	0.54587	T	-0.375775	0.03311	T	-0.300227	0.44701	T	0.0761322569759102	0.09485	T	0.783822	0.48765	T	0.38438714	0.59631	0.4171403	0.65777	0.38438714	0.59632	0.4171403	0.65777	-9.1	0.68337	D	.	.	0.320	0.54499	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.639229	0.51593	23.1	0.99588906317292114	0.73454	0.97718	0.76633	D	AEFDGBI	0.643161	0.61987	D	0.13245262778941	0.47981	3.016437	0.0344970478253174	0.41329	2.481143	0.999930997634723	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.6	3.68	0.41359	4.655000	0.61171	4.311000	0.42969	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.8512:0.1488:0.0	14.411	0.66686	917	0.20147	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	948.33	35	chr14	91189060	.	C	G	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.294;SOR=0.752	GT:AD:DP:GQ:PL	0/1:54,38:92:99:962,0,1383	18	0	1	0
chr14	91199818	91199818	G	A	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon11:c.G1357A:p.A453T,DGLUCY:NM_001286471:exon11:c.G1342A:p.A448T,DGLUCY:NM_001358310:exon11:c.G1357A:p.A453T,DGLUCY:NM_001358311:exon11:c.G1342A:p.A448T,DGLUCY:NM_001358312:exon11:c.G1357A:p.A453T,DGLUCY:NM_024952:exon11:c.G1342A:p.A448T,DGLUCY:NM_001102367:exon12:c.G1342A:p.A448T,DGLUCY:NM_001102366:exon13:c.G1342A:p.A448T,DGLUCY:NM_001102369:exon13:c.G1306A:p.A436T,DGLUCY:NM_001286472:exon13:c.G1357A:p.A453T,DGLUCY:NM_001286470:exon14:c.G1357A:p.A453T	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0004	0.0205671	0.0111	0.0006	0.0006	0.0769	0	8.99e-05	0.0077	0.0394	0.009974	1542	154602	rs114411077	0.0049	0.0049	0.0038	0.0060	0.0798	0.0048	0.0048	0.0775	0.0766	0.0005	0.0002	0	0.0798	0	0.0019	6.475e-05	0.0074	0.0401	0.0045	0.0046	0.0033	0.0058	0.0781	0.0042	0.0041	0.0718	0.0693	0.0009	0	0.0018	0	0.0781	0	0	7.351e-05	0.0052	0.0427	0.124	0.27426	T	0.738	0.07105	T	0.084	0.25884	B	0.028	0.24832	B	0.000714	0.42254	N	0.270289	1	0.08975	N	.	.	.	2.23	0.18083	T	-1.74	0.41809	N	0.279	0.34012	-1.0614	0.11410	T	0.009	0.03183	T	10	0.0037378073	0.00069	T	.	.	.	0.072	0.21020	.	.	.	.	0.8095712159820677	0.80912	0.130808477754	0.14758	.	.	.	0.028224	0.20494	T	-0.564384	0.00239	T	-0.514056	0.20900	T	0.015212250864031	0.00334	T	0.826617	0.54490	T	0.0244838	0.01285	0.049020838	0.07404	0.0244838	0.01285	0.049020838	0.07403	-6.721	0.73588	T	.	.	0.275	0.57695	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.918439	0.24368	16.37	0.97925090518359759	0.36914	0.73035	0.35731	D	AEFDBI	0.090541	0.18345	N	-0.562280617518052	0.20100	1.057143	-0.659601785264983	0.17974	0.9581703	0.473240990626478	0.20725	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	-0.0833	0.13029	2.877000	0.48205	0.125000	0.14969	-0.159000	0.11634	0.979000	0.35152	0.000000	0.08366	0.004000	0.06068	0.214:0.0:0.5156:0.2704	4.371	0.10683	905	0.23532	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1437.33	39	chr14	91199818	.	G	A	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=774;ExcessHet=0;FS=5.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.334;SOR=1.161	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1451,0,1582	18	0	1	0
chr14	93218608	93218608	A	G	exonic	UBR7	.	nonsynonymous SNV	UBR7:NM_175748:exon7:c.A683G:p.N228S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0381503497619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.829	0.27544	T	0.457	0.13103	T	0.0	0.02946	B	0.001	0.04355	B	0.039988	0.24109	N	0.494253	0.656408	0.31664	N	0.97	0.24054	L	-1.03	0.76430	T	-0.8	0.22078	N	0.142	0.14196	-0.7730	0.56692	T	0.264	0.63480	T	10	0.08286646	0.13724	T	0.03815	0.58047	D	0.155	0.40530	0.16	0.06396	0.686473688929	0.68379	0.10000872257322906	0.09931	0.365470389754	0.38140	0.346125334501	0.17350	T	0.009784	0.08886	T	-0.158079	0.27055	T	-0.464846	0.26074	T	0.0943264216184616	0.11720	T	.	.	.	0.036616325	0.04537	0.03758983	0.03444	0.036616325	0.04537	0.03758983	0.03443	-3.32	0.13997	T	.	.	0.075	0.20274	B	.;.	.;.	2.228234	0.28438	17.80	0.62217067486665212	0.06906	0.49919	0.28543	N	AEDBI	0.134346	0.25433	N	-0.26102165867646	0.30665	1.712016	-0.077850010437623	0.36308	2.111297	0.941395337625756	0.27475	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	4.94	0.64645	1.980000	0.40241	6.941000	0.56991	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.8604:0.0:0.1396:0.0	8.008	0.29501	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1285.33	33	chr14	93218608	.	A	G	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.1;DP=691;ExcessHet=0;FS=2.146;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=-0.196;SOR=0.459	GT:AD:DP:GQ:PL	0/1:22,48:70:99:1299,0,604	18	0	1	0
chr14	93263897	93263897	C	T	exonic	BTBD7	.	nonsynonymous SNV	BTBD7:NM_001289133:exon2:c.G206A:p.R69Q,BTBD7:NM_001002860:exon4:c.G1259A:p.R420Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.0629756115827	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs773513406	1.026e-05	1.026e-05	1.361e-05	6.875e-06	4.472e-05	6.16e-06	4.89e-06	7.41e-06	2.77e-06	0	4.472e-05	0	2.519e-05	0	0	7.194e-06	3.311e-05	2.319e-05	3.287e-05	3.284e-05	5.14e-05	1.346e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.549e-05	0	0	0	0	4.41e-05	0	0.0002	0.006	0.61437	D	0.01	0.65728	D	0.976	0.77913	D	0.582	0.60432	P	0.000001	0.84330	D	0.055019	1	0.81001	D	2.25	0.63811	M	-0.29	0.67712	T	-3.21	0.65056	D	0.715	0.94077	-0.0898	0.80332	T	0.434	0.77504	T	10	0.68146276	0.71305	D	0.062976	0.68822	D	0.370	0.68930	0.491	0.57732	0.64650504949	0.64357	0.5334111461045338	0.53266	0.75028358683	0.63735	0.798785686493	0.81777	T	0.429801	0.77848	T	0.0804616	0.62094	D	-0.122199	0.61622	T	0.989102244377136	0.79363	D	.	.	.	0.5978903	0.72578	0.37087372	0.62328	0.5978903	0.72579	0.37087372	0.62328	-8.084	0.61641	D	.	.	0.532	0.65998	A	.;.	.;.	5.378966	0.90151	31	0.99961469417109217	0.99998	0.98403	0.82420	D	AEFBI	0.888749	0.82218	D	0.70577248033062	0.80010	7.200692	0.696576391358842	0.82119	7.688631	0.999999999999992	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	7.905000	0.86479	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.323	0.90186	792	0.45996	BTB/Kelch-associated|BTB/Kelch-associated;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1031.33	33	chr14	93263897	.	C	T	1031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=689;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.409;SOR=0.544	GT:AD:DP:GQ:PL	0/1:44,38:82:99:1045,0,1034	18	0	1	0
chr14	94290332	94290332	G	A	exonic	SERPINA10	.	stopgain	SERPINA10:NM_001100607:exon2:c.C262T:p.R88X,SERPINA10:NM_016186:exon2:c.C262T:p.R88X	.	406	1043	67	6	0	79	0.0364896	.	.	.	967233	not_provided|LAMB2-related_infantile-onset_nephrotic_syndrome	MedGen:C3661900|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00539137	0.0075	0.0024	0.0081	0.0002	0.0015	0.0075	0.0088	0.0162	0.0002689	7	26028	rs2232698	0.0066	0.0066	0.0061	0.0070	0.0695	0.0065	0.0064	0.0639	0.0617	0.0027	0.0069	0.0196	0.0002	0.0015	0.0695	0.0056	0.0090	0.0160	0.0053	0.0053	0.0051	0.0055	0.0139	0.0050	0.0049	0.0112	0.0102	0.0016	0	0.0076	0.0202	0.0002	0.0011	0.0748	0.0063	0.0104	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.000033	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.86085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.	.;High;.;.	7.984329	0.97058	36	0.99821763425602916	0.90414	0.76946	0.37781	D	AEFBCI	0.382980	0.46466	N	0.319043072116327	0.57125	3.878893	0.0876574291364291	0.43925	2.684392	0.999858293275741	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	4.87	3.04	0.34171	1.993000	0.40367	0.274000	0.16691	0.373000	0.20310	0.981000	0.35396	0.000000	0.08366	0.730000	0.35099	0.1556:0.0:0.5649:0.2795	5.893	0.18165	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.056898	0.040404	0.059783	0.108187	0.000000	0.077586	0.039634	0.026515	0.05263	3403.83	51	chr14	94290332	.	G	A	3403.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.46;DP=1206;ExcessHet=0.119;FS=3.864;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.854;SOR=0.916	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1392,0,1548	17	0	2	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:65,62:127:99:687,0,967	1	0	17	1
chr14	96398119	96398130	AGAGGAAGAGGA	-	exonic	AK7	.	nonframeshift deletion	AK7:NM_001350888:exon2:c.150_161del:p.E53_E56del,AK7:NM_001350890:exon2:c.150_161del:p.E53_E56del,AK7:NM_001350891:exon2:c.150_161del:p.E53_E56del,AK7:NM_001350892:exon2:c.150_161del:p.E53_E56del,AK7:NM_152327:exon2:c.150_161del:p.E53_E56del	.	421	1098	3	0	0	3	0.00136426	.	.	.	1430068	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0.0002	0	0	0.0007	0.0011	0	0.0002689	7	26028	rs776901819	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0002	0.0004	0	0	0	0.0005	0.0007	0.0006	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0006	0.0002	0.0002	0.0004	0.0004	7.219e-05	0	0.0003	0	0	0	0	0.0006	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3306.29	41	chr14	96398118	.	CAGAGGAAGAGGA	C	3306.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=962;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.163;SOR=0.792	GT:AD:DP:GQ:PL	0/1:159,91:250:99:3320,0,6348	18	0	1	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,14:31:99:.:.:539,0,655:.	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,14:31:99:.:.:539,0,655:.	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,14:31:99:.:.:539,0,655:.	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,14:31:99:.:.:539,0,655:.	4	0	15	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2861,262,0	0	13	3	3
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2863.0	45	chr15	23361381	.	G	*	2863.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1;DP=1640;ExcessHet=6.9875;FS=2.005;InbreedingCoeff=-0.3583;MLEAC=7;MLEAF=0.184;MQ=57.9;MQRankSum=0.431;QD=2.66;ReadPosRankSum=0.105;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,32:123:99:.:.:1053,0,3655:.	12	0	7	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	748.69	45	chr15	23361385	.	C	*	748.69	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.781;DP=1415;ExcessHet=5.3738;FS=2.904;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.184;MQ=56.95;MQRankSum=-1.859;QD=0.78;ReadPosRankSum=2.42;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,32:123:99:.:.:1053,0,3655:.	12	0	7	0
chr15	23439898	23439898	A	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.T2577A:p.D859E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000823278663855	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281434687	2.883e-06	2.737e-06	0	5.845e-06	3.723e-06	6.8e-07	4.6e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.723e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.38016	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.85	0.10578	T	0.12	0.05604	N	0.136	0.13341	.	.	.	.	.	.	.	0.07324645	0.11041	T	8.23E-4	0.00670	T	.	.	.	.	0.0401082797425	0.02173	0.007172188856076798	0.00684	0.013557928413	0.01303	.	.	.	.	.	.	-0.479057	0.00749	T	-0.925909	0.00350	T	.	.	.	0.511749	0.16382	T	0.09831733	0.23190	0.089938276	0.21062	0.09831733	0.23189	0.089938276	0.21062	-8.463	0.64184	D	.	.	0.446	0.61983	A	.	.	0.559146	0.09276	6.059	0.37165468673017343	0.02433	0.00295	0.01577	N	AEFDBI	0.031947	0.03517	N	.	.	.	.	.	.	1.33518189157633E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.476	0.476	0.15990	-3.711000	0.00434	-1.806000	0.04692	-1.201000	0.01362	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	553.33	71	chr15	23439898	.	A	T	553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.169;DP=1716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.98;MQRankSum=3.35;QD=6.83;ReadPosRankSum=-2.395;SOR=0.675	GT:AD:DP:GQ:PL	0/1:54,27:81:99:567,0,1628	18	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,62:142:99:.:.:5349,2922,3216:.	0	0	19	0
chr15	23441421	23441421	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1054A:p.E352K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00694899640779	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435564939	8.611e-06	7.722e-06	7.716e-06	9.532e-06	1.384e-05	4.62e-06	3.38e-06	4.23e-06	3.07e-06	0	0	4.581e-05	0	0	0	9.001e-06	0	1.384e-05	0	3.327e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.233	0.18122	T	0.236	0.25827	T	0.235	0.30743	B	0.072	0.28043	B	.	.	.	.	1	0.08975	N	2.07	0.56829	M	-2.07	0.85943	D	-1.55	0.37566	N	0.114	0.10198	-1.0318	0.19873	T	0.065	0.27017	T	6	0.0814935	0.13346	T	0.006949	0.18402	T	0.025	0.05312	0.383	0.40134	0.188950314367	0.18478	0.6695521574212119	0.66893	0.0366987802299	0.03888	0.528629601002	0.42841	T	0.006644	0.24867	T	-0.127768	0.31857	T	-0.421306	0.30927	T	0.228228151798248	0.21867	T	0.378562	0.09103	T	0.20721175	0.42920	0.20557737	0.44734	0.20721175	0.42920	0.20557737	0.44733	-4.203	0.26795	T	.	.	0.119	0.24396	B	.;.	.;.	0.150689	0.05428	1.902	0.59905677371549837	0.06335	0.00161	0.00961	N	AEFBI	0.033930	0.04114	N	-1.10416496934618	0.06569	0.3027555	-1.27150908495804	0.04820	0.228282	1.89544881250415E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-3.900000	0.00382	-3.264000	0.02923	-1.235000	0.01322	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1034.33	47	chr15	23441421	.	C	T	1034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.356;DP=1034;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=-0.071;SOR=0.495	GT:AD:DP:GQ:PL	0/1:22,37:59:99:1048,0,562	18	0	1	0
chr15	32168187	32168187	C	G	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.C1238G:p.S413C,CHRNA7:NM_001190455:exon10:c.C1325G:p.S442C	Schizophrenia, neurophysiologic defect in	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630	0.136599678341	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343650360	6.95e-07	6.841e-07	1.38e-06	0	9.072e-07	0	0	.	.	0	0	0	0	0	0	9.072e-07	0	0	0	6.618e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.074	0.35165	T	0.022	0.59159	D	0.998	0.73220	D	0.905	0.64260	P	0.001986	0.37503	N	0.229426	0.999854	0.51042	D	1.71	0.44315	L	-1.93	0.84842	D	-2.11	0.48184	N	0.254	0.34981	0.337	0.88131	D	0.652	0.87873	D	10	0.73251075	0.74395	D	0.137	0.81909	D	0.630	0.85769	0.59	0.71874	0.865308800367	0.86400	0.4369092449994551	0.43607	.	.	0.774800777435	0.78144	T	0.70515	0.91544	D	0.176415	0.71712	D	0.0359029	0.72660	D	0.594984352588654	0.36202	D	0.876912	0.58964	D	0.14582294	0.33409	0.12932163	0.31097	0.14582294	0.33409	0.12932163	0.31096	-4.772	0.35600	T	.	.	0.086	0.11027	B	.;.;.;.;.	.;.;.;.;.	4.633122	0.73682	26.0	0.9922705568313227	0.56089	0.97886	0.77870	D	AEFI	0.723814	0.67332	D	0.517276928022546	0.68112	5.172492	0.457616047410156	0.65207	4.794785	0.0141653759506118	0.12562	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	3.85	3.85	0.43556	2.972000	0.48948	7.535000	0.59982	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	14.102	0.64590	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	38	chr15	32168187	.	C	G	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=1036;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.1;MQRankSum=-2.191;QD=3.95;ReadPosRankSum=0.414;SOR=0.677	GT:AD:DP:GQ:PL	0/1:131,40:171:99:689,0,3479	18	0	1	0
chr15	33088938	33088938	T	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon5:c.A1904G:p.N635S	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0149	0	0	0	0	0.0017	0.0227	0.0229	0.0016559	256	154602	rs181008299	0.0026	0.0024	0.0020	0.0032	0.0218	0.0025	0.0025	0.0209	0.0206	0.0001	0.0011	0.0002	2.798e-05	0.0148	0.0067	0.0010	0.0027	0.0218	0.0023	0.0023	0.0016	0.0030	0.0203	0.0021	0.0020	0.0170	0.0158	9.627e-05	0	0.0015	0	0.0004	0.0115	0	0.0014	0.0009	0.0203	0.882	0.02532	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.22	0.03977	N	1.11	0.38883	T	0.11	0.05706	N	0.026	0.00527	.	.	.	.	.	.	.	0.0014220476	0.00015	T	.	.	.	.	.	.	.	.	.	0.029195515721522472	0.02868	.	.	0.276002764702	0.06942	T	0.04835	0.27991	T	-0.708137	0.00033	T	-0.77238	0.02690	T	.	.	.	.	.	.	0.02616488	0.01640	0.034886222	0.02636	0.02616488	0.01639	0.034886222	0.02635	-1.13	0.01155	T	.	.	0.054	0.00309	B	.;.	.;.	-0.517751	0.01811	0.142	0.52692756404091912	0.04796	0.00826	0.03330	N	AEFBI	0.032923	0.03812	N	.	.	.	.	.	.	0.999999999668005	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.17	-10.3	0.00281	-1.774000	0.01882	-3.680000	0.02610	-0.718000	0.03832	0.010000	0.18352	0.000000	0.08366	0.812000	0.38265	0.1073:0.4907:0.2352:0.1668	5.498	0.16102	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4641.83	36	chr15	33088938	.	T	C	4641.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.237;DP=967;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.82;SOR=0.713	GT:AD:DP:GQ:PL	0/1:72,102:174:99:2651,0,1775	17	0	2	0
chr15	33857882	33857882	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001243996:exon98:c.G14095A:p.E4699K,RYR3:NM_001036:exon99:c.G14110A:p.E4704K	.	0	1507	13	2	0	17	0.00560871	.	.	.	464954	not_provided|Epileptic_encephalopathy|RYR3-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.535	.	0.0070	0.00199681	0.0085	0.0014	0.0032	0	0.0185	0.0110	0.0134	0.0060	0.0081176	1255	154602	rs182257230	0.0092	0.0092	0.0093	0.0091	0.0103	0.0091	0.0090	0.0101	0.0100	0.0013	0.0033	0.0010	5.038e-05	0.0151	0.0021	0.0103	0.0082	0.0060	0.0071	0.0071	0.0071	0.0071	0.0110	0.0068	0.0066	0.0103	0.0101	0.0017	0.0011	0.0055	0.0009	0	0.0130	0	0.0110	0.0081	0.0046	0.053	0.38863	T	0.088	0.40586	T	0.518	0.37483	P	0.166	0.35067	B	0.000003	0.62929	D	0.059025	0.999979	0.53665	D	2.02	0.55341	M	-2.98	0.92057	D	-2.07	0.47344	N	0.614	0.63035	0.431	0.89553	D	0.653	0.87920	D	10	0.009003162	0.00204	T	.	.	.	0.535	0.80486	.	.	0.725665454109	0.72323	0.8827005318070547	0.88238	0.905758439191	0.70838	0.836199164391	0.87514	D	0.87149	0.97228	D	-0.180672	0.23636	T	-0.0206229	0.68988	D	0.0183165658988414	0.00550	T	0.932107	0.74696	D	0.27215397	0.50286	0.23718351	0.49009	0.27215397	0.50286	0.23718351	0.49008	-7.169	0.55259	T	.	.	0.091	0.12938	B	.;.;.;.;.;.	.;.;.;.;.;.	4.030585	0.59597	24.1	0.99811573321092328	0.89531	0.98951	0.89073	D	AEFBI	0.904754	0.85544	D	0.440036351321565	0.63639	4.60171	0.512440853527715	0.68826	5.273985	0.999999999998712	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.995000	0.87962	11.780000	0.96086	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:1.0:0.0	18.317	0.90165	848	0.35897	Ion transport domain;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	907.33	33	chr15	33857882	.	G	A	907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.179;DP=734;ExcessHet=0;FS=1.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.831;SOR=0.94	GT:AD:DP:GQ:PL	0/1:48,38:86:99:921,0,1135	18	0	1	0
chr15	34356022	34356022	G	T	exonic	NUTM1	.	nonsynonymous SNV	NUTM1:NM_001284293:exon7:c.G1984T:p.A662S,NUTM1:NM_001284292:exon8:c.G2014T:p.A672S,NUTM1:NM_175741:exon8:c.G1930T:p.A644S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00377450053977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.319	0.19908	T	0.408	0.35000	B	0.086	0.29521	B	0.372010	0.04368	N	1.414510	1	0.08975	N	1.39	0.34934	L	3.02	0.08986	T	-0.79	0.21860	N	0.105	0.08925	-0.9691	0.37386	T	0.020	0.08500	T	10	0.07971218	0.12856	T	0.003775	0.08775	T	0.037	0.09474	0.22	0.14224	0.323342291347	0.31936	0.03698919136292837	0.03645	0.0706069507822	0.07910	0.263074338436	0.05261	T	0.002528	0.01914	T	-0.266848	0.12111	T	-0.621085	0.11101	T	0.0924661332674758	0.11506	T	0.587441	0.21491	T	0.041757345	0.06208	0.048016254	0.07041	0.041757345	0.06208	0.048016254	0.07041	-2.98	0.09967	T	.	.	0.098	0.18206	B	.;.;.;.	.;.;.;.	0.539141	0.09077	5.860	0.95214376974491266	0.26425	0.20122	0.20923	N	AEFDBI	0.044280	0.07105	N	-0.60786855321428	0.18707	0.9733714	-0.643682009631876	0.18376	0.9813942	0.947028189769161	0.27733	0.475973	0.10046	0	0.547309	0.14657	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.3	2.44	0.28875	0.879000	0.27783	1.317000	0.25577	0.676000	0.76740	0.018000	0.19461	0.026000	0.21063	0.268000	0.23719	0.2793:0.0:0.7207:0.0	6.901	0.23461	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	889.33	35	chr15	34356022	.	G	T	889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.63;DP=703;ExcessHet=0;FS=3.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.07;SOR=0.384	GT:AD:DP:GQ:PL	0/1:30,34:64:99:903,0,899	18	0	1	0
chr15	39770462	39770462	T	G	exonic	FSIP1	.	nonsynonymous SNV	FSIP1:NM_001324338:exon3:c.A275C:p.D92A,FSIP1:NM_152597:exon3:c.A275C:p.D92A	.	442	1071	9	0	0	9	0.0041841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	7.7e-05	0.00998403	0.0053	0.0004	0.0005	0.0001	0	1.509e-05	0.0022	0.0408	0.0045601	705	154602	rs144058034	0.0022	0.0022	0.0012	0.0032	0.0354	0.0021	0.0021	0.0343	0.0339	6.027e-05	7.011e-05	0	7.575e-05	0	0.0014	8.103e-06	0.0025	0.0354	0.0015	0.0015	0.0009	0.0023	0.0465	0.0014	0.0013	0.0415	0.0395	0.0001	0	0.0001	0	0	0	0	4.409e-05	0.0009	0.0465	0.014	0.53172	D	0.148	0.32675	T	0.386	0.34500	B	0.124	0.32546	B	0.476991	0.12210	N	0.729552	1	0.08975	N	2.255	0.64187	M	1.71	0.26737	T	-3.66	0.70067	D	0.136	0.13341	-1.0364	0.18419	T	0.045	0.19397	T	9	0.0021748245	0.00031	T	.	.	.	0.021	0.04004	.	.	0.117506650769	0.11410	0.061670961347377845	0.06107	0.103862167063	0.11752	0.27449542284	0.06737	T	0.027469	0.20108	T	-0.596532	0.00153	T	-0.602493	0.12602	T	0.0307565880713713	0.02107	T	0.608539	0.22995	T	0.22199973	0.44789	0.14327914	0.34057	0.22199973	0.44789	0.14327914	0.34056	-4.068	0.24817	T	.	.	0.098	0.16054	B	.	.	1.826863	0.23215	15.93	0.98248118515486293	0.39548	0.05355	0.11213	N	AEFDBI	0.070889	0.14090	N	-0.647274501835662	0.17539	0.9034116	-0.705082685100506	0.16835	0.8923909	0.998448406744762	0.36977	0.638212	0.43195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	4.6	2.29	0.27658	0.633000	0.24289	0.269000	0.16635	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.680000	0.33542	0.0:0.2071:0.0:0.7929	6.063	0.19074	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	1130.33	34	chr15	39770462	.	T	G	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.82;DP=713;ExcessHet=0;FS=3.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.819;SOR=0.372	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1144,0,964	18	0	1	0
chr15	41417212	41417212	C	T	exonic	RTF1	.	nonsynonymous SNV	RTF1:NM_015138:exon1:c.C97T:p.R33W	.	338	1181	3	0	0	3	0.0012685	.	.	.	2346709	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.274724466031	.	0.000798722	0.0005	0	0	0	0	0	0	0.0076	0.0001537	4	26028	rs570140884	7.658e-05	0.0002	5.326e-05	0.0001	0.0034	6.334e-05	5.835e-05	0.0028	0.0026	0	0	0	0	0	0.0003	4.299e-06	6.763e-05	0.0034	0.0001	0.0001	2.57e-05	0.0002	0.0035	7.088e-05	5.745e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.0	0.91255	D	0.06	0.45744	T	0.994	0.66517	D	0.689	0.53736	P	0.122171	0.18966	U	0.270688	0.971905	0.25629	N	0.69	0.16971	N	.	.	.	-0.26	0.11185	N	0.261	0.29544	-1.0921	0.05191	T	0.055	0.23300	T	9	0.00861457	0.00195	T	0.274724	0.90011	D	0.202	0.48754	0.315	0.29096	0.297458270211	0.29361	0.2605884451160792	0.25971	1.19207641878	0.80307	0.953855454922	0.99825	D	0.063097	0.32088	T	0.0572624	0.59267	T	-0.155523	0.58752	T	0.682613805457179	0.39907	D	0.739826	0.35853	T	0.19326043	0.41029	0.30892107	0.56908	0.19326043	0.41029	0.30892107	0.56908	-5.548	0.42315	T	.	.	0.411	0.60161	A	.	.	5.024606	0.83534	28.1	0.99133167377058906	0.53329	0.39562	0.26240	N	AEFGBHCIJ	0.368770	0.45574	N	-0.0815961584024192	0.38199	2.233698	-0.0542351018176995	0.37308	2.182641	0.999999999763613	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.91	2.99	0.33673	1.550000	0.35830	5.564000	0.48925	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.1704:0.6644:0.1653:0.0	8.720	0.33600	165	0.93588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	795.33	34	chr15	41417212	.	C	T	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=2.13;SOR=0.566	GT:AD:DP:GQ:PL	0/1:17,31:48:99:809,0,375	18	0	1	0
chr15	42292901	42292901	A	G	exonic	GANC	.	nonsynonymous SNV	GANC:NM_198141:exon5:c.A496G:p.I166V,GANC:NM_001301409:exon6:c.A496G:p.I166V	.	431	1046	40	5	0	50	0.0233427	.	.	.	703188	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0078	0.0127796	0.0075	0.0147	0.0057	0	0.0002	0.0049	0.0077	0.0221	0.0070504	1090	154602	rs16973015	0.0045	0.0045	0.0038	0.0052	0.0291	0.0044	0.0044	0.0255	0.0242	0.0164	0.0063	0.0275	7.559e-05	0.0002	0.0291	0.0022	0.0087	0.0222	0.0081	0.0081	0.0077	0.0084	0.0226	0.0077	0.0076	0.0191	0.0178	0.0151	0	0.0110	0.0283	0	9.411e-05	0.0374	0.0028	0.0113	0.0226	1.0	0.13789	T	1.0	0.15746	T	0.0	0.02946	B	0.0	0.01387	B	0.994447	0.07924	N	1.002620	0.999995	0.18878	N	0.345	0.11182	N	2.42	0.15376	T	0.47	0.03407	N	0.051	0.03502	-0.9557	0.39970	T	0.007	0.02478	T	10	0.0022723973	0.00033	T	.	.	.	0.029	0.06676	.	.	0.208000267992	0.20380	0.2328167028766837	0.23196	0.0197173881048	0.01935	0.319238394499	0.13306	T	0.105202	0.41545	T	-0.727947	0.00025	T	-0.801502	0.01865	T	0.00145000340663175	0.00015	T	0.627737	0.24333	T	0.016294397	0.00188	0.023676626	0.00381	0.016294397	0.00188	0.023676626	0.00381	-1.67	0.02152	T	.	.	0.072	0.04396	B	.;.	.;.	-0.090613	0.03695	0.753	0.53970959569603294	0.05044	0.16193	0.19274	N	AEFBI	0.068465	0.13508	N	-0.924656515881054	0.10268	0.4898374	-0.850470864278704	0.13276	0.6878217	0.648537815688585	0.22136	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.27	0.387	0.15484	0.222000	0.17482	1.616000	0.27661	0.756000	0.94297	0.036000	0.20778	0.710000	0.26286	0.680000	0.33542	0.4019:0.2069:0.3911:0.0	5.528	0.16255	495	0.76383	.;.	.	.	.	.	.	Likely benign	0	0	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	0.030715	0.090909	0.033967	0.043860	0.050000	0.008621	0.015244	0.011364	0.02632	2336.33	38	chr15	42292901	.	A	G	2336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.078;DP=888;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.059;SOR=0.626	GT:AD:DP:GQ:PL	0/1:80,91:171:99:2350,0,2040	18	0	1	0
chr15	42718752	42718752	G	A	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon32:c.G13843A:p.G4615S	.	429	1089	4	0	0	4	0.00183318	0.9984	0.856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.283130464397	.	.	0.0006	0	0	0	0	0	0	0.0014	7.12e-05	11	154602	rs767082679	0.0002	0.0002	8.695e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	3.971e-05	0	0	0.0009	1.761e-05	6.907e-05	0.0025	4.598e-05	4.593e-05	0	9.401e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999953	0.52396	D	1.78	0.46185	L	-1.76	0.83578	D	-2.13	0.48354	N	0.675	0.68255	0.258	0.86869	D	0.654	0.87943	D	8	0.3428538	0.51308	T	0.28313	0.90302	D	0.577	0.82912	.	.	0.665568045044	0.66275	0.10453184638477157	0.10383	.	.	0.386438071728	0.23166	T	0.012195	0.10762	T	-0.205515	0.20014	T	-0.0812145	0.64815	T	0.170514193309072	0.18615	T	0.842416	0.51891	T	0.2783294	0.50888	0.3918357	0.63944	0.2783294	0.50887	0.3918357	0.63944	-5.758	0.44207	T	.	.	0.261	0.49528	B	.	.	5.045723	0.84013	28.2	0.99641941694223846	0.76695	0.96844	0.71246	D	AEFDGBCI	0.714289	0.66682	D	0.596727232703948	0.72968	5.890285	0.543142964044617	0.70920	5.576974	0.999999977993345	0.74766	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	6.724000	0.74556	6.626000	0.56136	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.0:0.0:1.0:0.0	16.168	0.81595	87	0.96348	START domain|START 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	.	.	.	.	.	.	.	.	0.02632	858.33	34	chr15	42718752	.	G	A	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.749;DP=719;ExcessHet=0;FS=4.286;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.34;SOR=1.473	GT:AD:DP:GQ:PL	0/1:33,28:61:99:872,0,969	18	0	1	0
chr15	43477653	43477653	A	G	exonic	TP53BP1	.	nonsynonymous SNV	TP53BP1:NM_001141979:exon8:c.T895C:p.S299P,TP53BP1:NM_001141980:exon8:c.T895C:p.S299P,TP53BP1:NM_005657:exon8:c.T880C:p.S294P	.	422	1075	25	0	0	25	0.0114943	.	.	.	717955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0064	0.00319489	0.0064	0.0008	0.0022	0	0.0039	0.0076	0.0022	0.0125	0.0063647	984	154602	rs61751060	0.0070	0.0070	0.0067	0.0073	0.0139	0.0069	0.0068	0.0133	0.0130	0.0008	0.0032	0.0069	2.521e-05	0.0033	0.0111	0.0072	0.0062	0.0139	0.0048	0.0048	0.0049	0.0048	0.0120	0.0045	0.0044	0.0095	0.0086	0.0009	0	0.0047	0.0049	0	0.0024	0.0034	0.0075	0.0061	0.0120	0.078	0.41364	T	0.172	0.30241	T	0.992	0.64738	D	0.981	0.75168	D	0.100541	0.19882	N	0.443981	0.928755	0.28855	N	2.3	0.65703	M	3.63	0.11189	T	-1.19	0.48184	N	0.255	0.35620	-1.0849	0.06426	T	0.038	0.16333	T	10	0.005440235	0.00120	T	.	.	.	0.071	0.20720	.	.	0.312529679308	0.30857	0.11211295233820184	0.11140	0.279315344121	0.30423	0.349700629711	0.17878	T	0.252361	0.62274	T	-0.487052	0.00674	T	-0.461362	0.26450	T	0.0203654917493927	0.00736	T	0.829717	0.49530	T	0.07854128	0.17891	0.12804876	0.30812	0.07854128	0.17891	0.12804876	0.30812	-4.526	0.31227	T	.	.	0.128	0.27403	B	.;.;.;.;.	.;.;.;.;.	3.245978	0.44328	21.9	0.99689671145336156	0.79842	0.66100	0.32961	D	AEFDBI	0.304585	0.41224	N	0.229170947818217	0.52616	3.434786	0.161070637973126	0.47730	2.999014	0.912351589583928	0.26393	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.57	0.22490	1.029000	0.29747	4.432000	0.43354	-0.095000	0.16041	0.973000	0.34540	0.999000	0.35428	0.989000	0.64315	0.5007:0.337:0.0:0.1622	5.866	0.18024	17	0.98681	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.006793	0.008772	0.000000	0.000000	0.021341	0.026515	0.07895	3941.79	33	chr15	43477653	.	A	G	3941.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.26;DP=852;ExcessHet=0.3672;FS=0.875;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.119;SOR=0.769	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1168,0,1043	16	0	3	0
chr15	45061087	45061087	C	T	exonic	SORD	.	nonsynonymous SNV	SORD:NM_003104:exon4:c.C286T:p.P96S	.	431	1061	30	0	0	30	0.0139405	.	.	.	3539455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.517	0.0733825270408	.	.	7.417e-05	0.0006	0	0	0	4.497e-05	0	0	3.84e-05	1	26028	rs367815523	0.0005	0.0049	0.0005	0.0005	0.0020	0.0004	0.0004	0.0011	0.0009	0.0010	0.0009	0.0002	0.0007	0.0002	0.0020	0.0004	0.0005	0.0006	0.0008	0.0047	0.0008	0.0007	0.0016	0.0006	0.0006	0.0012	0.0011	0.0016	0.0011	0.0003	0.0003	0.0010	0	0	0.0006	0.0005	0.0004	0.0	0.91255	D	0.009	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.68	0.78455	M	3.44	0.05375	T	-7.84	0.96032	D	0.904	0.90476	-1.1546	0.00894	T	0.046	0.19800	T	10	0.69918245	0.72335	D	0.073383	0.71774	D	0.517	0.79400	.	.	0.485420873983	0.48173	0.9197059316775463	0.91946	0.907490128697	0.70902	0.666648447514	0.62360	T	0.265353	0.63721	T	0.113796	0.65744	D	-0.074317	0.65318	T	0.47631374001503	0.31762	T	0.982402	0.99990	D	0.94719636	0.95980	0.8657455	0.92572	0.94719636	0.95980	0.8657455	0.92573	-11.109	0.80252	D	.	.	0.940	0.85879	P	.;.	.;.	4.803971	0.78081	26.8	0.99918417027830564	0.98586	0.99309	0.94295	D	AEFGBI	0.944456	0.95155	D	0.571844831821852	0.71421	5.64843	0.512897990840352	0.68855	5.278264	0.99999999999784	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	7.830000	0.84907	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	0.0:1.0:0.0:0.0	15.778	0.78011	409	0.82198	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.015152	0.000000	0.017544	0.000000	0.008621	0.000000	0.000000	0.05263	641.83	45	chr15	45061087	.	C	T	641.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.61;DP=1049;ExcessHet=0.119;FS=10.978;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.24;MQRankSum=-7.437;QD=1.88;ReadPosRankSum=-0.786;SOR=1.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,23:192:99:0|1:45061086_G_A:457,0,6997:45061086	17	0	2	0
chr15	45135487	45135487	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon6:c.C509T:p.T170M,DUOX1:NM_017434:exon7:c.C509T:p.T170M	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.908	0.791576934743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.133e-07	9.577e-06	1.409e-06	0	2.769e-05	0	0	.	.	0	0	0	2.769e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.057584	1	0.81001	D	3.92	0.96251	H	-1.58	0.81987	D	-4.81	0.80767	D	0.911	0.91276	0.821	0.94668	D	0.789	0.92850	D	10	0.9844012	0.98633	D	0.791577	0.98364	D	0.908	0.97512	0.863	0.95940	0.965101321531	0.96473	0.8145658875557028	0.81412	1.03631145464	0.75617	0.768104314804	0.77141	T	0.623053	0.88213	D	0.382987	0.88899	D	0.312358	0.88760	D	0.998809099197388	0.95218	D	0.940639	0.77718	D	0.8156278	0.84927	0.7458447	0.84977	0.8156278	0.84928	0.7458447	0.84978	-10.164	0.74887	D	.	.	0.553	0.67819	A	.;.	.;.	5.240826	0.87984	29.4	0.99835059478249699	0.91628	0.94500	0.61366	D	AEFDGBHCI	0.682075	0.64521	D	0.751627589299647	0.83011	7.906654	0.591510506677488	0.74327	6.118628	0.999999999999748	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.8	3.8	0.42887	5.977000	0.70179	3.983000	0.40922	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	13.538	0.61114	616	0.66398	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase 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	.	.	.	.	.	.	.	.	0.02632	1167.33	39	chr15	45135487	.	C	T	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.801;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,41:78:99:1181,0,923	18	0	1	0
chr15	48441811	48441811	C	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon50:c.G6073T:p.A2025S	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	44761	not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Marfan_syndrome|FBN1-related_disorder	MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.400	0.0466743135552	0.0016	0.00199681	0.0005	0.0054	0	0	0	0	0	0	0.0004269	66	154602	rs113577372	9.307e-05	9.303e-05	0.0001	8.528e-05	0.0037	8.028e-05	7.521e-05	0.0032	0.0030	0.0037	4.476e-05	0	0	0	0	0	0.0001	0	0.0010	0.0010	0.0010	0.0011	0.0038	0.0009	0.0009	0.0033	0.0031	0.0038	0	6.543e-05	0	0	0	0	0	0.0005	0	0.67	0.04561	T	0.758	0.04669	T	.	.	.	.	.	.	0.000001	0.62929	D	0.098253	0.999526	0.47407	D	.	.	.	-2.95	0.91903	D	-0.68	0.19509	N	0.184	0.19995	-0.2843	0.75423	T	0.415	0.76191	T	10	0.0098210275	0.00220	T	0.046674	0.62568	D	0.400	0.71401	.	.	0.579960410888	0.57666	.	.	0.482670863814	0.47229	0.497079014778	0.38421	T	.	.	.	-0.3023	0.08444	T	-0.206056	0.54072	T	0.0211887542494066	0.00821	T	0.647135	0.25820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18539	B	.	.	3.188787	0.43316	21.7	0.96531282759664305	0.30151	0.91187	0.53031	D	AEFBI	0.653777	0.62669	D	-0.204163074482429	0.32962	1.864813	0.0651955737949117	0.42812	2.59617	0.999999999874471	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	1.522000	0.35527	4.097000	0.41842	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.945	0.97180	344	0.85734	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1039.33	33	chr15	48441811	.	C	A	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-2.243;SOR=0.61	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1053,0,1018	18	0	1	0
chr15	49328671	49328671	G	C	exonic	FAM227B;GALK2	.	nonsynonymous SNV	GALK2:NM_001352047:exon12:c.G967C:p.E323Q,GALK2:NM_001352048:exon12:c.G967C:p.E323Q,FAM227B:NM_152647:exon16:c.C1424G:p.S475C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0067	0.00559105	0.0035	0.0263	0.0015	0	0	7.593e-05	0.0032	0	0.0012936	200	154602	rs150753064	0.0005	0.0005	0.0006	0.0005	0.0205	0.0005	0.0005	0.0192	0.0187	0.0205	0.0006	0	0	0	0	1.203e-05	0.0011	2.496e-05	0.0052	0.0052	0.0053	0.0050	0.0180	0.0049	0.0047	0.0170	0.0165	0.0180	0	0.0016	0	0	0	0	2.941e-05	0.0038	0.0002	0.157	0.23997	T	0.179	0.29540	T	0.006	0.13644	B	0.006	0.12133	B	0.001196	0.00751	N	2.834750	1	0.08975	N	0.55	0.14455	N	.	.	.	-1.35	0.33598	N	0.108	0.09349	-1.0771	0.07922	T	0.034	0.14596	T	9	0.002750367	0.00043	T	.	.	.	0.029	0.06676	.	.	0.0138822411134	0.00435	0.07869044513023583	0.07804	0.0392305835521	0.04181	0.313409507275	0.12422	T	0.049886	0.28437	T	-0.582886	0.00185	T	-0.592466	0.13454	T	0.0149959483170009	0.00322	T	0.442056	0.12263	T	0.053002387	0.09966	0.03928853	0.03988	0.053002387	0.09965	0.03928853	0.03987	-4.976	0.36579	T	.	.	0.075	0.05447	B	.	.	-0.565759	0.01668	0.119	0.90381796100186984	0.19644	0.01688	0.05383	N	AEFBI	0.065292	0.12728	N	-1.48449935070191	0.01959	0.08601867	-1.62855327905476	0.01491	0.06747296	0.999999979073522	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.78367	0.99111	0	0.528226	0.09195	0	.	.	5.35	-9.82	0.00403	-1.903000	0.01686	-1.620000	0.05046	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5246:0.0956:0.113:0.2668	3.026	0.05721	424	0.81215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1799.33	33	chr15	49328671	.	G	C	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.663;DP=749;ExcessHet=0;FS=3.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-1.81;SOR=0.976	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1813,0,1560	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:84,35:126:53:53,0,1977	3	0	13	3
chr15	57439317	57439317	G	T	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon2:c.G1318T:p.V440L,CGNL1:NM_001252335:exon3:c.G1318T:p.V440L	.	.	.	.	.	.	.	.	.	.	.	754555	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.095	0.00416385327018	0.0013	.	0.0002	0.0029	0	0	0	0	0.0011	0	0.0002264	35	154602	rs141686050	0.0001	0.0001	0.0001	9.351e-05	0.0035	8.78e-05	8.267e-05	0.0030	0.0028	0.0035	0.0002	0	0	0	0.0002	8.993e-07	0.0003	0	0.0008	0.0008	0.0008	0.0008	0.0029	0.0007	0.0007	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	0	0	0	0.089	0.32141	T	0.316	0.19362	T	0.01	0.15535	B	0.008	0.13708	B	0.001675	0.00812	N	3.127850	1	0.08975	N	1.445	0.36358	L	3.72	0.04014	T	-0.19	0.09965	N	0.127	0.12055	-0.9503	0.40920	T	0.009	0.03140	T	10	0.005564153	0.00123	T	0.004164	0.09995	T	0.095	0.27398	0.15	0.05339	0.0401082797425	0.02173	0.09401661497341653	0.09333	0.018240306212	0.01780	0.284642398357	0.08148	T	0.00595	0.05392	T	-0.70892	0.00032	T	-0.796328	0.01996	T	0.00754473843742541	0.00087	T	0.490951	0.15096	T	0.03665884	0.04553	0.03120116	0.01675	0.03665884	0.04553	0.03120116	0.01675	-2.784	0.08037	T	.	.	0.087	0.11414	B	.	.	-1.198305	0.00532	0.012	0.65818999454463278	0.07880	0.02604	0.07175	N	AEFBI	0.050602	0.08861	N	-1.83520308972683	0.00465	0.01999408	-1.89545945640261	0.00500	0.02214398	0.999985136443637	0.51787	0.744818	0.98587	0	0.573888	0.26702	0	0.732433	0.93434	0	0.655142	0.61905	0	.	.	5.41	-7.1	0.01394	-0.974000	0.03904	-5.216000	0.01803	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3146:0.1618:0.2033:0.3203	0.166	0.00101	479	0.77495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2452.33	151	chr15	57439317	.	G	T	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=2830;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.03;SOR=0.463	GT:AD:DP:GQ:PL	0/1:108,95:203:99:2466,0,2673	18	0	1	0
chr15	58854499	58854499	A	C	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon9:c.A1755C:p.Q585H,MINDY2:NM_001040453:exon9:c.A1752C:p.Q584H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00357555662481	.	0.000199681	0.0004	0	0.0003	0	0	0	0	0.0025	0.0002911	45	154602	rs544050775	0.0002	0.0002	8.306e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0.0001	0	0	0	0.0003	8.994e-07	0.0002	0.0025	3.282e-05	3.281e-05	2.569e-05	4.027e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.038	0.45756	D	0.075	0.42794	T	0.681	0.44460	P	0.34	0.48916	B	0.120000	0.19053	N	0.513245	0.987849	0.24474	N	.	.	.	0.77	0.49642	T	-1.3	0.32590	N	0.176	0.18920	-0.9652	0.38171	T	0.123	0.42547	T	10	0.015164822	0.00318	T	0.003576	0.08154	T	0.048	0.13305	0.163	0.06730	0.639199560535	0.63622	0.18327613625975894	0.18246	0.425055007789	0.42922	0.498948991299	0.38681	T	0.033707	0.23026	T	-0.465726	0.00905	T	-0.446997	0.28028	T	0.102286406077583	0.12607	T	0.686431	0.29515	T	0.05587999	0.10919	0.06550123	0.13284	0.05587999	0.10918	0.06550123	0.13283	-5.558	0.42407	T	.	.	0.147	0.32517	B	.;.	.;.	2.696198	0.35208	19.84	0.99204287633522492	0.55381	0.97961	0.78453	D	AEFDBIJ	0.395032	0.47205	N	0.285556493568999	0.55416	3.705662	0.39983297243605	0.61554	4.357191	0.85977019622505	0.25203	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.96	5.96	0.96695	2.434000	0.44460	4.099000	0.41853	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.9255:0.0:0.0745:0.0	10.011	0.41158	625	0.65529	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1077.83	42	chr15	58854499	.	A	C	1077.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.077;DP=689;ExcessHet=0.119;FS=3.592;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.572;SOR=0.644	GT:AD:DP:GQ:PL	0/1:33,24:57:99:486,0,772	17	0	2	0
chr15	65118763	65118763	G	A	exonic	PDCD7	.	nonsynonymous SNV	PDCD7:NM_005707:exon5:c.C1412T:p.P471L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00417845807117	.	.	7.455e-05	0.0005	0	0	0	0	0	0.0002	5.82e-05	9	154602	rs61756022	2.402e-05	2.463e-05	2.321e-05	2.484e-05	0.0002	1.745e-05	1.544e-05	9.819e-05	6.995e-05	0.0002	6.805e-05	0	2.543e-05	0	0	1.081e-05	0	0.0001	7.229e-05	7.224e-05	7.709e-05	6.727e-05	0.0002	3.972e-05	3.128e-05	0.0001	8.457e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0002	0.018	0.53900	D	0.248	0.54934	T	0.196	0.29532	B	0.021	0.19346	B	0.059652	0.22307	N	0.405109	0.591604	0.32461	D	0.55	0.14455	N	.	.	.	-2.18	0.74504	N	0.262	0.29659	-0.9722	0.36734	T	0.067	0.27708	T	9	0.07673204	0.12024	T	0.004178	0.10058	T	0.082	0.23913	.	.	0.508223314113	0.50461	0.35189834949469806	0.35103	.	.	0.389683961868	0.23626	T	0.111466	0.42697	T	-0.329953	0.06115	T	-0.414171	0.31746	T	0.0412723051495629	0.03921	T	0.863014	0.55864	D	0.040679358	0.05853	0.05568031	0.09811	0.040679358	0.05853	0.05568031	0.09811	-5.736	0.44013	T	.	.	0.129	0.30555	B	.;.	.;.	3.368773	0.46543	22.3	0.92659818118737036	0.22139	0.54319	0.29587	D	AEFDGBI	0.118856	0.23223	N	-0.429158798107677	0.24452	1.320383	-0.260328611356944	0.29418	1.647945	0.969187287996826	0.29109	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.04	0.67293	1.432000	0.34545	6.706000	0.56386	-0.106000	0.15538	0.421000	0.26338	1.000000	0.68203	0.994000	0.71098	0.0688:0.1785:0.6379:0.1149	6.898	0.23448	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	929.33	34	chr15	65118763	.	G	A	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.751;DP=725;ExcessHet=0;FS=0.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=2.08;SOR=0.844	GT:AD:DP:GQ:PL	0/1:63,41:104:99:943,0,1513	18	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	465.41	41	chr15	66326260	.	C	G	465.41	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-4.097;DP=1369;ExcessHet=2.0135;FS=270.804;InbreedingCoeff=-0.1865;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.58;SOR=10.26	GT:AD:DP:GQ:PL	0/1:76,30:106:98:98,0,1855	13	0	6	0
chr15	66332016	66332016	C	T	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon14:c.C2299T:p.P767S,DIS3L:NM_001323940:exon14:c.C1567T:p.P523S,DIS3L:NM_001323943:exon14:c.C1567T:p.P523S,DIS3L:NM_001323948:exon14:c.C2497T:p.P833S,DIS3L:NM_001143688:exon15:c.C2677T:p.P893S,DIS3L:NM_001323936:exon15:c.C2428T:p.P810S,DIS3L:NM_001323938:exon15:c.C2275T:p.P759S,DIS3L:NM_001323941:exon15:c.C2275T:p.P759S,DIS3L:NM_001323944:exon15:c.C2626T:p.P876S,DIS3L:NM_001323945:exon15:c.C2428T:p.P810S,DIS3L:NM_001323946:exon15:c.C2275T:p.P759S,DIS3L:NM_133375:exon15:c.C2428T:p.P810S,DIS3L:NM_001323939:exon16:c.C2275T:p.P759S	.	433	1088	1	0	0	1	0.000459348	.	.	.	4130290	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.482	0.0148640034977	.	0.000399361	0.0004	0	8.681e-05	0	0	0	0	0.0026	0.0002911	45	154602	rs201069843	0.0001	0.0001	7.663e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	2.996e-05	2.258e-05	0	0	0	0.0003	1.802e-06	0.0002	0.0021	5.26e-05	5.251e-05	3.858e-05	6.727e-05	0.0017	2.559e-05	1.831e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.053	0.39820	T	0.018	0.59732	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	1.6	0.28604	T	-6.93	0.93404	D	0.893	0.90138	-0.6731	0.61688	T	0.226	0.59058	T	10	0.17953858	0.33093	T	0.014864	0.35248	T	0.482	0.77206	0.653	0.79068	0.629173233237	0.62614	0.7677940975859019	0.76728	0.661331589679	0.58920	0.76535063982	0.76728	T	0.209127	0.56926	T	-0.0772364	0.40162	T	0.110421	0.77600	D	0.365876794137634	0.27637	T	0.892111	0.62800	D	0.5387898	0.69328	0.5729114	0.75263	0.5387898	0.69330	0.5729114	0.75264	-9.67	0.73208	D	.	.	0.560	0.67199	A	.;.	.;.	4.046592	0.59952	24.2	0.99796647284262041	0.88194	0.99181	0.92424	D	AEFBI	0.911308	0.87041	D	0.747243497440229	0.82725	7.834036	0.667538972403135	0.79923	7.186107	0.999999999984739	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.794000	0.84430	7.672000	0.64834	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.372000	0.26156	0.0:1.0:0.0:0.0	18.553	0.91025	677	0.60274	.;Exosome complex exonuclease RRP44, S1 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	.	.	.	.	.	.	.	.	0.05263	2168.81	34	chr15	66332016	.	C	T	2168.81	.	AC=2;AF=0.053;AN=38;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.12;SOR=1.308	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2196,216,0	18	1	0	0
chr15	68311080	68311080	C	T	exonic	ITGA11	.	nonsynonymous SNV	ITGA11:NM_001004439:exon26:c.G3088A:p.A1030T	.	423	1094	5	0	0	5	0.00227998	0.0199	0.206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0002	0.00119808	0.0007	0	0.0002	0	0	0.0002	0.0018	0.0037	0.000401	62	154602	rs200822139	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0034	0.0033	3.004e-05	2.283e-05	0	2.535e-05	0	0.0019	0.0001	0.0002	0.0038	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0027	0.0023	2.407e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0005	0.0041	0.192	0.20988	T	0.519	0.11004	T	0.019	0.17989	B	0.049	0.25116	B	0.050812	0.23037	N	0.488014	0.932784	0.27012	N	1.495	0.37439	L	0.92	0.44461	T	-0.63	0.23808	N	0.125	0.11769	-0.9976	0.30590	T	0.065	0.26772	T	10	0.01436004	0.00302	T	0.016487	0.37771	T	0.086	0.25016	.	.	0.573614764001	0.57028	0.2286465306784358	0.22779	0.11311934576	0.12766	0.239958122373	0.02787	T	0.089813	0.38451	T	-0.626193	0.00101	T	-0.674681	0.07311	T	0.0538255324432984	0.06159	T	0.248675	0.15896	T	0.038274117	0.05067	0.06635556	0.13582	0.038274117	0.05066	0.06635556	0.13581	-3.322	0.17353	T	.	.	0.065	0.01810	B	.;.	.;.	1.581292	0.20234	14.65	0.7172195876824683	0.09726	0.86811	0.46174	D	AEFDGBI	0.518112	0.54395	D	-0.602748520277136	0.18861	0.9826417	-0.435445827639973	0.23965	1.309712	0.999999155372838	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.96	4.04	0.46262	3.422000	0.52509	3.219000	0.36843	-0.193000	0.09282	0.994000	0.38300	0.998000	0.33993	0.035000	0.13729	0.0:0.9122:0.0:0.0878	11.627	0.50412	700	0.57880	.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2282.81	42	chr15	68311080	.	C	T	2282.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.85;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2310,222,0	18	1	0	0
chr15	72731341	72731341	G	A	exonic	BBS4	.	nonsynonymous SNV	BBS4:NM_001252678:exon10:c.G232A:p.G78R,BBS4:NM_001320665:exon10:c.G679A:p.G227R,BBS4:NM_033028:exon11:c.G748A:p.G250R	Bardet-Biedl syndrome 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	255352	Bardet-Biedl_syndrome|not_specified	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.636	.	0.0056	0.00698882	0.0015	0.0166	0.0002	0	0	2.997e-05	0	0	0.0014359	222	154602	rs34620165	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0143	0.0138	0.0154	0.0005	0	0	0	0.0005	1.259e-05	0.0007	0	0.0042	0.0042	0.0043	0.0041	0.0149	0.0039	0.0038	0.0139	0.0135	0.0149	0	0.0010	0	0	0	0	0	0.0028	0	0.104	0.29959	T	0.349	0.21678	T	0.915	0.50599	P	0.425	0.45259	B	0.000001	0.84330	N	0.097048	1	0.81001	D	1.985	0.53793	M	-1.44	0.80815	T	-4.76	0.80340	D	0.733	0.73375	-0.3468	0.73646	T	0.246	0.61530	T	10	0.010049701	0.00225	T	.	.	.	0.636	0.86078	0.513	0.61153	0.827366211817	0.82573	0.7786084634078688	0.77811	0.0139038463021	0.01327	0.849743485451	0.89575	D	0.725652	0.92281	D	-0.0901412	0.38052	T	0.110066	0.77577	D	0.0925360792795187	0.11514	T	0.909609	0.68156	D	0.57492465	0.71331	0.39496568	0.64177	0.6802458	0.76984	0.36824918	0.62117	-12.148	0.88072	D	0.29881002842184384	0.39602	0.304	0.59683	B	.;.;.	.;.;.	4.258012	0.64686	24.7	0.99660618421929159	0.77883	0.98113	0.79708	D	AEFDBIJ	0.895237	0.83504	D	0.480637088947015	0.65961	4.888743	0.507849973724159	0.68519	5.231067	0.999999939427599	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	4.94	0.64645	7.977000	0.87680	8.714000	0.78144	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0689:0.0:0.9311:0.0	14.757	0.69192	413	0.81939	.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1397.33	33	chr15	72731341	.	G	A	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=729;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.587;SOR=0.906	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1411,0,1282	18	0	1	0
chr15	74072740	74072740	A	T	splicing	GOLGA6A	NM_001038640:exon13:c.1501+2T>A	.	.	.	368	1152	2	0	0	2	0.000867303	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	3.099e-05	0.0011	0.0050	3.84e-05	1	26028	rs755633335	0.0001	0.0004	6.132e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0007	8.094e-06	0.0002	0.0022	8.596e-05	0.0002	3.883e-05	0.0001	0.0025	4.987e-05	3.986e-05	0.0014	0.0011	0	0	0	0	0	0	0	1.47e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.257468	0.13198	T	-0.607612	0.12179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.845209	0.55667	23.6	0.88380525631847129	0.17932	0.39964	0.26331	N	AEFI	.	.	.	0.373527919460758	0.59991	4.18348	0.0298595575305894	0.41109	2.464243	2.4053704782628E-4	0.06095	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.200103	0.30461	1.55	1.55	0.22356	2.835000	0.47876	6.957000	0.57044	0.276000	0.18584	0.981000	0.35396	1.000000	0.68203	0.153000	0.20410	1.0:0.0:0.0:0.0	5.253	0.14845	824	0.40336	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	513.33	40	chr15	74072740	.	A	T	513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=923;ExcessHet=0;FS=1.691;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.69;MQRankSum=-0.536;QD=3.47;ReadPosRankSum=-0.124;SOR=0.879	GT:AD:DP:GQ:PL	0/1:118,30:148:99:527,0,3159	18	0	1	0
chr15	74752237	74752237	A	G	exonic	CYP1A2	.	nonsynonymous SNV	CYP1A2:NM_000761:exon5:c.A1156G:p.I386V	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0125730663251	0.0005	0.000399361	0.0012	9.61e-05	8.639e-05	0	0.0038	0.0004	0.0011	0.0059	0.0010155	157	154602	rs72547516	0.0011	0.0011	0.0010	0.0012	0.0059	0.0011	0.0010	0.0055	0.0053	5.974e-05	4.473e-05	0	0	0.0027	0.0007	0.0008	0.0010	0.0059	0.0008	0.0008	0.0006	0.0009	0.0046	0.0006	0.0006	0.0031	0.0026	0.0001	0	0.0002	0	0.0002	0.0032	0	0.0007	0.0014	0.0046	0.008	0.58626	D	0.081	0.41742	T	.	.	.	.	.	.	0.000014	0.62929	N	0.149485	0.999928	0.51308	D	1.265	0.31966	L	-0.32	0.68181	T	-0.84	0.22944	N	0.448	0.48596	-0.7757	0.56542	T	0.215	0.57692	T	10	0.020976245	0.00493	T	0.012573	0.31260	T	0.197	0.47942	.	.	0.446613173091	0.44281	0.5565674297463102	0.55583	0.0591215612177	0.06565	0.532397627831	0.43372	T	0.258433	0.62959	T	-0.399947	0.02317	T	-0.344938	0.39784	T	0.0478982993270919	0.05126	T	0.814918	0.46941	T	0.5175205	0.68117	0.36680952	0.62003	0.5175205	0.68118	0.36680952	0.62003	-5.665	0.43381	T	.	.	0.160	0.35331	B	.	.	2.523236	0.32609	19.09	0.97360331200342753	0.33568	0.92866	0.56738	D	AEFGBI	0.875860	0.79951	D	-0.220546524454395	0.32291	1.819549	-0.13047314992595	0.34169	1.962449	0.999997412110401	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.89	3.76	0.42368	7.278000	0.77961	3.259000	0.37078	0.736000	0.85976	1.000000	0.71638	0.998000	0.33993	0.783000	0.37026	0.924:0.0:0.076:0.0	10.636	0.44756	343	0.85802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	985.33	35	chr15	74752237	.	A	G	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.653;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-1.45;SOR=0.627	GT:AD:DP:GQ:PL	0/1:68,46:114:99:999,0,1793	18	0	1	0
chr15	74800698	74800698	A	G	exonic	CSK	.	nonsynonymous SNV	CSK:NM_004383:exon7:c.A574G:p.M192V,CSK:NM_001127190:exon8:c.A574G:p.M192V,CSK:NM_001354988:exon9:c.A574G:p.M192V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0114696907369	.	0.000199681	5.049e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs549434240	1.493e-05	1.505e-05	4.213e-06	2.591e-05	0.0002	9.59e-06	8.14e-06	0.0002	0.0001	0	0	0	0	0	0	9.234e-07	0	0.0002	1.971e-05	1.969e-05	0	4.032e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.541	0.06779	T	0.507	0.10930	T	0.02	0.18235	B	0.005	0.11217	B	0.000016	0.62929	D	0.150554	0.999615	0.47849	D	1.355	0.33814	L	1.45	0.32482	T	-0.99	0.26200	N	0.274	0.31027	-1.0843	0.06535	T	0.064	0.26420	T	10	0.08572334	0.14500	T	0.01147	0.29127	T	0.062	0.17934	0.583	0.70990	0.481781477641	0.47810	0.7385305254120618	0.73798	1.23351800455	0.81410	0.484259426594	0.36643	T	0.529417	0.83688	D	-0.368379	0.03676	T	-0.472093	0.25291	T	0.068042084001466	0.08374	T	0.789321	0.42944	T	0.1903784	0.40620	0.12758897	0.30711	0.1903784	0.40620	0.12758897	0.30711	-6.041	0.46621	T	.	.	0.078	0.06710	B	.;.;.	.;.;.	2.152528	0.27418	17.46	0.92221735994899656	0.21595	0.96584	0.69873	D	AEFDGBCI	0.709162	0.66334	D	-0.20753467351114	0.32826	1.855504	-0.0645315772457339	0.36869	2.151152	0.999999992581877	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.691587	0.68394	0	.	.	4.99	3.83	0.43287	1.122000	0.30909	6.812000	0.56651	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8498:0.1502:0.0:0.0	11.537	0.49894	309	0.87553	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	855.33	33	chr15	74800698	.	A	G	855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.662;DP=703;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.985;SOR=0.42	GT:AD:DP:GQ:PL	0/1:28,33:61:99:869,0,799	18	0	1	0
chr15	75266254	75266254	A	G	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon11:c.A997G:p.K333E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0027	0	0	0	0	0	0	0.0385	3.84e-05	1	26028	rs779710882	0.0010	0.0013	0.0006	0.0015	0.0153	0.0010	0.0009	0.0144	0.0140	9.368e-05	5.155e-05	0.0003	0	0	0.0008	2.088e-05	0.0007	0.0153	0.0005	0.0007	0.0003	0.0008	0.0197	0.0004	0.0004	0.0158	0.0144	2.769e-05	0	0	0.0003	0.0005	0	0	1.781e-05	0	0.0197	0.18	0.21968	T	0.194	0.28120	T	0.927	0.51527	P	0.801	0.58220	P	.	.	.	.	0.999468	0.21151	N	1.02	0.25474	L	1.91	0.23283	T	-0.5	0.15782	N	0.061	0.03283	-1.0516	0.13954	T	0.078	0.31133	T	8	0.005700618	0.00127	T	.	.	.	0.025	0.05312	0.289	0.24921	0.0920862733494	0.08535	0.11169969736499243	0.11098	3.57629945819	0.99806	0.621172785759	0.55895	T	0.012557	0.11015	T	-0.305586	0.08143	T	-0.67673	0.07184	T	0.0415507185675066	0.03973	T	0.206779	0.02461	T	0.09566681	0.22520	0.07561902	0.16665	0.09566681	0.22520	0.07561902	0.16665	-4.998	0.36819	T	.	.	0.101	0.17530	B	.	.	1.188218	0.15795	12.11	0.77926348716508886	0.12081	0.02372	0.06748	N	AEFI	0.043568	0.06903	N	-0.644118509257516	0.17631	0.9089239	-0.954091552427924	0.10828	0.5479165	3.07875769299949E-4	0.06454	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	-0.473000	0.06694	0.042000	0.13882	0.220000	0.18069	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.5079:0.4916:2.0E-4:3.0E-4	2.889	0.05322	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	58.64	4	chr15	75266254	.	A	G	58.64	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.786;DP=134;ExcessHet=0;FS=0;InbreedingCoeff=-0.0464;MLEAC=1;MLEAF=0.026;MQ=37.13;MQRankSum=-0.32;QD=3.66;ReadPosRankSum=0.673;SOR=0.078	GT:AD:DP:GQ:PL	0/1:13,3:16:72:72,0,491	18	0	1	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016110	0.026667	0.005464	0.004310	0.055556	0.034483	0.025547	0.016393	0.05263	107.21	34	chr15	75689635	.	C	T	107.21	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=1018;ExcessHet=0.119;FS=13.909;InbreedingCoeff=-0.0654;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-8.042;QD=0.51;ReadPosRankSum=0.519;SOR=2.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,8:104:47:0|1:75689631_A_G:47,0,3996:75689631	17	0	2	0
chr15	79049560	79049560	C	T	exonic	RASGRF1	.	nonsynonymous SNV	RASGRF1:NM_001145648:exon4:c.G560A:p.R187H,RASGRF1:NM_002891:exon4:c.G560A:p.R187H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0125610252918	.	.	5.82e-05	0	0	0	0	1.505e-05	0	0.0004	4.53e-05	7	154602	rs780918719	1.916e-05	1.915e-05	1.906e-05	1.926e-05	0.0002	1.329e-05	1.144e-05	0.0001	0.0001	0	0	0	0	0	0.0002	8.095e-06	0	0.0002	6.573e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.01	0.57480	D	0.065	0.44905	T	0.941	0.52883	P	0.587	0.50368	P	0.324518	0.14216	N	0.673907	0.999348	0.46733	D	1.935	0.51832	L	1.03	0.40469	T	-1.72	0.40850	N	0.544	0.57092	-0.8714	0.50424	T	0.179	0.52473	T	10	0.26103443	0.43558	T	0.012561	0.31241	T	0.140	0.37593	0.314	0.28935	0.343804874344	0.33996	0.17516641537742011	0.17435	2.12214780581	0.95030	0.489460289478	0.37363	T	0.276459	0.64905	T	-0.282762	0.10378	T	-0.34362	0.39934	T	0.51678740978241	0.33247	D	0.949605	0.80601	D	0.14149565	0.32602	0.12859532	0.30937	0.14149565	0.32602	0.12859532	0.30936	-9.19	0.68912	D	.	.	0.079	0.19958	B	.;.	.;.	4.822701	0.78566	26.9	0.99955458759256088	0.99975	0.83669	0.42771	D	AEFDHCI	0.483436	0.52388	N	0.576338970128128	0.71699	5.690841	0.609931362649363	0.75660	6.350004	0.999998500551118	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	4.703000	0.61511	5.754000	0.49644	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.172	0.81637	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	736.33	34	chr15	79049560	.	C	T	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.599;SOR=0.643	GT:AD:DP:GQ:PL	0/1:29,28:57:99:750,0,603	18	0	1	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	1978.48	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=5;MLEAF=0.132;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,19:108:99:.:.:442,0,3628:.	14	0	5	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,19:108:99:.:.:442,0,3628:.	6	0	12	1
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1637.45	111	chr15	82345087	.	C	*	1637.45	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.81;DP=2350;ExcessHet=13.8672;FS=0.585;InbreedingCoeff=-0.5406;MLEAC=10;MLEAF=0.263;MQ=41.11;MQRankSum=-2.282;QD=1.5;ReadPosRankSum=-2.685;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,19:108:99:.:.:442,0,3628:.	9	0	10	0
chr15	83263422	83263422	T	C	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001301206:exon4:c.A1808G:p.H603R,BNC1:NM_001717:exon4:c.A1829G:p.H610R	.	432	1088	2	0	0	2	0.000918274	.	.	.	2360501	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0057130247788	.	.	0.0001	0	0.0002	0	0	0.0002	0	0	9.06e-05	14	154602	rs747070639	4.446e-05	4.446e-05	4.764e-05	4.125e-05	0.0002	3.575e-05	3.257e-05	8.861e-05	6.427e-05	0	0.0002	0.0010	0.0001	0	0.0002	1.349e-05	0.0001	1.159e-05	4.599e-05	4.596e-05	6.423e-05	2.689e-05	2.94e-05	2.109e-05	1.527e-05	4.88e-06	1.83e-06	0	0	0	0.0014	0	0	0	2.94e-05	0	0	0.359	0.11957	T	0.576	0.08624	T	0.001	0.07471	B	0.001	0.08700	B	0.758392	0.09643	N	0.899485	1	0.08975	N	0.85	0.21244	L	1.02	0.41058	T	-2.01	0.46337	N	0.077	0.05162	-1.0149	0.25368	T	0.053	0.22617	T	10	0.016630858	0.00351	T	0.005713	0.14802	T	0.058	0.16647	0.178	0.08503	0.0934897674506	0.08844	0.08814460456515852	0.08747	0.172788980557	0.19455	0.263696432114	0.05339	T	0.141758	0.47699	T	-0.480425	0.00735	T	-0.658574	0.08363	T	0.0189243218369098	0.00602	T	0.526147	0.17328	T	0.0626904	0.13121	0.06569487	0.13352	0.0626904	0.13120	0.06569487	0.13352	-2.991	0.10084	T	.	.	0.060	0.01328	B	.;.	.;.	0.005940	0.04325	1.096	0.86840494134739377	0.16808	0.31183	0.24273	N	AEFBI	0.146053	0.26940	N	-0.774134845955296	0.13986	0.6931323	-0.670987159464286	0.17687	0.9416247	0.0188700269673261	0.13104	0.656854	0.48797	0	0.563428	0.19063	0	0.67347	0.61138	0	0.683762	0.67416	0	.	.	4.93	3.79	0.42757	0.043000	0.13855	-3.278000	0.02912	0.665000	0.62972	0.018000	0.19461	0.000000	0.08366	0.542000	0.29985	0.0:0.091:0.1681:0.7408	5.698	0.17136	430	0.80826	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1870.33	35	chr15	83263422	.	T	C	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.234;DP=798;ExcessHet=0;FS=6.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=1.03;SOR=0.354	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1884,0,1910	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	847.21	63	chr15	84240189	.	C	T	847.21	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.014;DP=851;ExcessHet=1.383;FS=16.586;InbreedingCoeff=-0.1671;MLEAC=5;MLEAF=0.139;MQ=33.66;MQRankSum=0.219;QD=4.48;ReadPosRankSum=-0.05;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,6:24:99:0|1:84240169_A_G:198,0,692:84240169	13	0	5	1
chr15	84680788	84680788	G	A	exonic	SEC11A	.	nonsynonymous SNV	SEC11A:NM_001271921:exon3:c.C206T:p.A69V,SEC11A:NM_001271920:exon4:c.C356T:p.A119V,SEC11A:NM_001271922:exon4:c.C356T:p.A119V,SEC11A:NM_014300:exon4:c.C356T:p.A119V,SEC11A:NM_001271918:exon5:c.C278T:p.A93V	.	431	1085	6	0	0	6	0.00275735	.	.	.	3310564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0050103724941	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0	6.06e-05	0.0001811	28	154602	rs201551814	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0	2.244e-05	0.0024	2.521e-05	0	0.0021	0.0002	0.0003	2.329e-05	0.0001	0.0001	0.0001	0.0002	0.0002	9.157e-05	7.711e-05	0.0001	8.877e-05	2.417e-05	0	0	0.0017	0	0	0	0.0002	0.0005	0	0.558	0.06957	T	0.624	0.11795	T	0.214	0.30086	B	0.029	0.21540	B	0.000000	0.84330	D	0.047257	0.999994	0.58761	D	.	.	.	.	.	.	-1.3	0.32590	N	0.496	0.52918	-0.9871	0.33323	T	0.138	0.45451	T	9	0.03788215	0.02171	T	0.00501	0.12660	T	0.088	0.25558	.	.	0.65604970179	0.65317	0.725709430677067	0.72514	0.759425712328	0.64173	0.845433712006	0.88923	D	0.11219	0.42827	T	-0.116382	0.33718	T	-0.17925	0.56593	T	0.0695746392011642	0.08591	T	0.789921	0.53747	T	0.13549356	0.31444	0.116273195	0.28068	0.13549356	0.31444	0.116273195	0.28067	-7.378	0.59105	T	.	.	0.235	0.50754	B	.;.;.;.;.;.	.;.;.;.;.;.	4.419594	0.68443	25.2	0.96469820522577332	0.29932	0.97637	0.76068	D	AEFBI	0.819592	0.74057	D	0.0890156463410683	0.45950	2.843189	0.272136382134892	0.53918	3.558649	0.999999282870959	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	4.87	0.62877	7.971000	0.87616	8.561000	0.77567	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8501:0.1499	14.147	0.64889	707	0.57054	Peptidase S26A, signal peptidase I, conserved site;.;.;Peptidase S26A, signal peptidase I, conserved site;.;Peptidase S26A, signal peptidase I, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1675.33	34	chr15	84680788	.	G	A	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.796;SOR=0.659	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1689,0,2101	18	0	1	0
chr15	88472362	88472362	G	A	exonic	MRPS11	.	nonsynonymous SNV	MRPS11:NM_001321974:exon3:c.G190A:p.E64K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.53e-06	1.541e-06	0	8.535e-06	7.547e-06	0	0	.	.	0	0	0	0	0	0	7.547e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1343.33	35	chr15	88472362	.	G	A	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.037;DP=766;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=0.737;SOR=0.606	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1357,0,921	18	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	635.01	117	chr15	88530840	.	T	C	635.01	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.068;DP=1914;ExcessHet=2.9153;FS=131.31;InbreedingCoeff=-0.2406;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=0.803;SOR=11.121	GT:AD:DP:GQ:PL	0/1:113,26:139:59:59,0,2658	11	0	7	1
chr15	88909921	88909921	T	C	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001114614:exon2:c.A76G:p.I26V,MFGE8:NM_005928:exon2:c.A76G:p.I26V,MFGE8:NM_001310320:exon3:c.A52G:p.I18V	.	418	1097	7	0	0	7	0.00318037	.	.	.	726326	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.282	.	7.7e-05	0.0155751	0.0085	0	0.0007	0.0183	0	8.992e-05	0.0077	0.0520	0.0075937	1174	154602	rs143117049	0.0035	0.0035	0.0021	0.0049	0.0502	0.0034	0.0034	0.0490	0.0485	0.0002	0.0002	0	0.0103	1.874e-05	0.0019	7.554e-05	0.0051	0.0502	0.0028	0.0028	0.0018	0.0039	0.0576	0.0026	0.0025	0.0520	0.0499	0.0004	0	0.0005	0	0.0236	0	0	5.879e-05	0.0009	0.0576	0.838	0.16958	T	0.106	0.39799	T	0.005	0.14655	B	0.004	0.10090	B	0.000135	0.49741	D	0.244211	1	0.81001	D	-0.345	0.03330	N	-2.86	0.91421	D	0.08	0.06026	N	0.256	0.29197	-0.6061	0.64565	T	0.265	0.63577	T	10	0.0045621097	0.00095	T	.	.	.	0.282	0.59981	.	.	0.780309997318	0.77828	0.6435828370275465	0.64293	0.0927251273686	0.10471	0.412731528282	0.26835	T	0.044387	0.26799	T	-0.366783	0.03760	T	-0.263129	0.48510	T	0.0157270759769986	0.00364	T	0.350665	0.09032	T	0.019394567	0.00469	0.026178306	0.00694	0.019394567	0.00469	0.026178306	0.00694	-2.388	0.05423	T	.	.	0.079	0.12512	B	.;.;.;.	.;.;.;.	1.552104	0.19892	14.49	0.95068260374652636	0.26104	0.73719	0.36059	D	AEFBCI	0.464936	0.51322	N	-0.539347433875791	0.20819	1.100357	-0.343215859517718	0.26719	1.477697	0.999989497530103	0.51787	0.706548	0.73137	0	0.588015	0.36545	0	0.672317	0.60874	0	0.714379	0.83352	0	.	.	5.39	3.45	0.38602	3.918000	0.56144	3.800000	0.39865	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1468:0.687:0.1662	9.669	0.39166	958	0.09170	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	rs143117049	Likely benign	0	0	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	0.006546	0.000000	0.001359	0.005882	0.000000	0.000000	0.009146	0.026515	0.05263	3288.83	34	chr15	88909921	.	T	C	3288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=866;ExcessHet=0.119;FS=0.936;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.18;SOR=0.608	GT:AD:DP:GQ:PL	0/1:64,80:144:99:2020,0,1581	17	0	2	0
chr15	89592047	89592047	C	G	exonic	TICRR	.	nonsynonymous SNV	TICRR:NM_001308025:exon5:c.C1409G:p.A470G,TICRR:NM_152259:exon5:c.C1412G:p.A471G	.	.	.	.	.	.	.	.	0.0007	0.16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00736093689089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.88e-07	6.84e-07	0	1.383e-06	9.043e-07	0	0	.	.	0	0	0	0	0	0	9.043e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26192	T	0.496	0.11335	T	0.873	0.47975	P	0.385	0.43987	B	0.157908	0.17756	N	0.600380	1	0.08975	N	2.24	0.63355	M	2.5	0.14408	T	-1.07	0.27876	N	0.15	0.15328	-1.0511	0.14092	T	0.030	0.12892	T	9	0.112169415	0.21031	T	0.007361	0.19523	T	0.030	0.07022	0.251	0.18912	0.202949470691	0.19918	0.11031773274349606	0.10960	0.0255153859567	0.02608	0.313961207867	0.12506	T	0.004536	0.03938	T	-0.286117	0.10029	T	-0.648764	0.09040	T	0.108480970968275	0.13265	T	0.40486	0.10377	T	0.06423913	0.13609	0.060034484	0.11367	0.06423913	0.13609	0.060034484	0.11367	-3.879	0.21988	T	.	.	0.096	0.15743	B	.;.	.;.	1.035921	0.14163	10.74	0.97616079443798687	0.34938	0.09478	0.15225	N	AEFDBIJ	0.097651	0.19691	N	-0.431267766213395	0.24379	1.31598	-0.5887258459056	0.19786	1.063175	0.448434382602153	0.20518	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.14	0.323	0.15136	0.341000	0.19652	-0.365000	0.09647	0.450000	0.21304	0.083000	0.22414	0.000000	0.08366	0.244000	0.23106	0.3533:0.474:0.0:0.1727	5.496	0.16096	895	0.25842	Treslin, 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	.	.	.	.	.	.	.	.	0.02632	1078.33	33	chr15	89592047	.	C	G	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.02;DP=798;ExcessHet=0;FS=0.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.29;SOR=0.559	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1092,0,1683	18	0	1	0
chr15	89648308	89648308	T	C	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.A1390G:p.I464V	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	7	1506	9	0	0	9	0.00297915	.	.	.	341485	Acrocallosal_syndrome	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.139	0.153396277549	.	0.000399361	0.0015	0	0	0	0	0	0	0.0024	0.0001229	19	154602	rs570856269	0.0003	0.0003	0.0002	0.0004	0.0024	0.0003	0.0003	0.0021	0.0020	3.294e-05	0.0001	0	0	0	0.0023	0.0002	0.0004	0.0024	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.723e-05	0.0008	0.0006	4.813e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0017	0.313	0.13879	T	0.597	0.08025	T	0.043	0.21573	B	0.021	0.19346	B	0.000004	0.62929	U	0.000000	0.997687	0.44098	D	2.485	0.72352	M	-0.62	0.71895	T	-0.16	0.09460	N	0.203	0.22486	-0.7827	0.56149	T	0.264	0.63534	T	10	0.007978946	0.00181	T	0.153396	0.83467	D	0.139	0.37390	0.12	0.02719	0.682399439722	0.67969	0.24251828648780865	0.24165	0.0606905089599	0.06755	0.889000177383	0.95135	D	0.091074	0.38721	T	-0.383569	0.02957	T	-0.328985	0.41583	T	0.0542463964984042	0.06230	T	0.860314	0.55333	D	0.051097695	0.09334	0.05417529	0.09269	0.051097695	0.09334	0.05417529	0.09268	-1.877	0.02749	T	0.2586999643734568	0.34951	0.242	0.47578	B	.	.	2.701580	0.35291	19.86	0.9945232932422543	0.65325	0.97220	0.73400	D	AEFDBI	0.654661	0.62727	D	-0.243260025261783	0.31372	1.758486	-0.178331256621388	0.32335	1.838589	0.999997242732638	0.74766	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.604944	0.38103	0	.	.	4.39	3.26	0.36471	5.530000	0.66854	1.092000	0.23989	0.643000	0.52288	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.0853:0.0:0.9147	9.551	0.38475	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	358.33	41	chr15	89648308	.	T	C	358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.21;DP=764;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=0.107;SOR=1.238	GT:AD:DP:GQ:PL	0/1:30,18:48:99:372,0,829	18	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:82:99:0|1:89776888_G_A:3395,1812,1718:89776888	8	2	9	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,45:82:28:0|1:89776888_G_A:1839,0,28:89776888	1	15	1	2
chr15	89805104	89805104	C	T	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon3:c.G871A:p.E291K,ANPEP:NM_001150:exon4:c.G871A:p.E291K,ANPEP:NM_001381923:exon4:c.G871A:p.E291K	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	7.7e-05	0.00339457	0.0023	0	8.637e-05	0.0035	0	2.997e-05	0.0011	0.0147	0.0019728	305	154602	rs138545632	0.0009	0.0009	0.0005	0.0013	0.0137	0.0009	0.0009	0.0130	0.0128	0.0001	6.708e-05	3.826e-05	0.0015	0	0.0005	2.338e-05	0.0015	0.0137	0.0006	0.0006	0.0003	0.0010	0.0174	0.0005	0.0005	0.0144	0.0133	2.404e-05	0	0	0	0.0025	0	0	0	0	0.0174	0.039	0.42487	D	0.26	0.23029	T	0.097	0.25541	B	0.082	0.29098	B	0.842211	0.09025	N	0.932048	1	0.08975	N	2.215	0.62545	M	4.08	0.03003	T	-1.57	0.37955	N	0.188	0.20528	-0.9935	0.31696	T	0.017	0.06759	T	10	0.0040177405	0.00078	T	.	.	.	0.045	0.12272	.	.	0.335661160332	0.33175	0.6516242948920506	0.65098	0.292576888637	0.31676	0.359996348619	0.19385	T	0.248878	0.61875	T	-0.641124	0.00082	T	-0.68203	0.06860	T	0.0234884346217938	0.01082	T	0.474753	0.14169	T	0.39907125	0.60668	0.30897304	0.56913	0.39907125	0.60668	0.30897304	0.56912	-7.778	0.59547	D	.	.	0.154	0.34004	B	.	.	-0.482656	0.01923	0.162	0.98056708188241037	0.37913	0.12782	0.17476	N	AEFGBCI	0.267519	0.38421	N	-1.14640182039963	0.05839	0.2672527	-1.2848983995165	0.04634	0.2190365	0.998436559116334	0.36959	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.08	-2.66	0.05721	-3.233000	0.00605	-5.564000	0.01673	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3846:0.3583:0.257	6.176	0.19657	448	0.79501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1423.33	34	chr15	89805104	.	C	T	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=751;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.306;SOR=0.815	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1437,0,1272	18	0	1	0
chr15	90912943	90912943	G	T	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon17:c.G2536T:p.A846S,MAN2A2:NM_001320977:exon18:c.G2536T:p.A846S	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0042	0.00299521	0.0010	0.0102	0.0003	0	0	9.002e-05	0.0022	6.07e-05	0.0009444	146	154602	rs1266491	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0092	0.0089	0.0101	0.0005	0	0	0	0.0033	3.058e-05	0.0007	4.637e-05	0.0025	0.0025	0.0026	0.0024	0.0089	0.0023	0.0022	0.0081	0.0078	0.0089	0	0.0008	0	0	0	0.0068	2.94e-05	0.0014	0	0.109	0.29288	T	0.8	0.04066	T	0.0	0.02946	B	0.003	0.08700	B	0.031402	0.25171	N	0.466449	1	0.08975	N	0.46	0.12951	N	-1.16	0.78082	T	-1.2	0.30555	N	0.121	0.11197	-0.8830	0.49521	T	0.144	0.46660	T	10	0.00473845	0.00100	T	.	.	.	0.114	0.32008	.	.	0.596734631435	0.59352	0.3515260220359136	0.35066	0.255935984705	0.28173	0.262064427137	0.05139	T	0.208242	0.56812	T	-0.403401	0.02199	T	-0.342839	0.40022	T	0.00181455922053344	0.00018	T	0.865813	0.56549	D	0.045215204	0.07362	0.056607004	0.10144	0.045215204	0.07362	0.056607004	0.10144	-3.237	0.12938	T	.	.	0.093	0.13969	B	.;.;.	.;.;.	0.752134	0.11215	7.851	0.88292371741457643	0.17863	0.21939	0.21576	N	AEFBCI	0.138947	0.26039	N	-0.756250797884247	0.14464	0.7207051	-0.756250723328174	0.15569	0.8194656	0.996745359576878	0.34974	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.02	3.15	0.35301	0.582000	0.23535	4.732000	0.44559	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.340000	0.25432	0.2575:0.0:0.587:0.1556	4.624	0.11857	635	0.64580	Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1467.33	43	chr15	90912943	.	G	T	1467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.198;DP=885;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=-1.458;SOR=0.64	GT:AD:DP:GQ:PL	0/1:113,64:177:99:1481,0,3111	18	0	1	0
chr16	2760468	2760468	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon10:c.C1001T:p.P334L	.	429	1052	40	1	0	42	0.0195713	.	.	.	714827	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.103	.	0.0014	0.00599042	0.0050	0.0004	0.0012	0	0.0008	0.0017	0.0033	0.0284	0.0045536	704	154602	rs150235008	0.0036	0.0036	0.0028	0.0044	0.0295	0.0035	0.0035	0.0285	0.0281	0.0004	0.0005	0.0065	5.038e-05	0.0009	0.0073	0.0020	0.0038	0.0295	0.0022	0.0022	0.0015	0.0030	0.0303	0.0020	0.0019	0.0263	0.0248	0.0003	0	0.0014	0.0058	0	0.0011	0.0102	0.0018	0.0005	0.0303	.	.	.	0.013	0.63109	D	1.0	0.90584	D	0.994	0.82059	D	0.003417	0.34985	N	0.135832	0.999074	0.46009	D	0.625	0.15840	N	1.8	0.25344	T	-2.52	0.54702	D	0.348	0.43706	-1.0132	0.25912	T	0.086	0.33326	T	10	0.0022793114	0.00033	T	.	.	.	0.103	0.29403	.	.	0.412458657427	0.40865	0.27737802147857227	0.27650	.	.	0.478136509657	0.35799	T	0.504773	0.82371	D	-0.464571	0.00920	T	-0.418471	0.31251	T	0.0348089445553392	0.02776	T	0.757724	0.57909	T	0.4271423	0.62565	0.27981788	0.53952	0.4271423	0.62566	0.27981788	0.53951	-5.044	0.37314	T	.	.	0.105	0.22680	B	.;.;.;.;.;.	.;.;.;.;.;.	2.926091	0.38855	20.8	0.90844783422658293	0.20094	0.53748	0.29447	D	AEFDBCI	0.256925	0.37576	N	0.289230763709058	0.55602	3.724228	0.280865838242416	0.54422	3.607319	0.999999990689739	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	2.184000	0.42205	3.997000	0.41039	0.599000	0.40250	0.369000	0.25916	0.999000	0.35428	0.921000	0.45669	0.0:1.0:0.0:0.0	13.773	0.62523	799	0.44747	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.000000	0.004076	0.002924	0.000000	0.008621	0.003067	0.015152	0.05263	5836.81	33	chr16	2760468	.	C	T	5836.81	.	AC=2;AF=0.053;AN=38;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.09;SOR=1.049	GT:AD:DP:GQ:PL	1/1:0,194:194:99:5864,582,0	18	1	0	0
chr16	4381955	4381955	A	G	exonic	VASN	.	nonsynonymous SNV	VASN:NM_138440:exon2:c.A1078G:p.T360A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0555920332278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.746e-06	3.42e-06	4.099e-06	1.38e-06	1.165e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	1.66e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.05772	T	0.335	0.18286	T	0.39	0.34593	B	0.054	0.25828	B	0.017607	0.27680	N	0.365911	1	0.81001	D	0.345	0.11182	N	0.46	0.56281	T	0.1	0.05810	N	0.094	0.07398	-1.0076	0.27665	T	0.079	0.31526	T	10	0.06765002	0.09455	T	0.055592	0.66293	D	0.085	0.24743	0.184	0.09259	0.502568190621	0.49893	0.47904654480200876	0.47824	0.0681984301376	0.07639	0.395076960325	0.24383	T	0.041709	0.25945	T	-0.159376	0.26856	T	-0.466709	0.25872	T	0.246582195162773	0.22719	T	.	.	.	0.043133397	0.06669	0.036824953	0.03208	0.043133397	0.06669	0.036824953	0.03208	-4.295	0.28107	T	.	.	0.06	0.00934	B	.	.	1.954494	0.24829	16.54	0.6531216305373615	0.07737	0.49730	0.28500	N	AEFDBCI	0.224312	0.34855	N	-0.476544697031456	0.22852	1.223058	-0.391329024979731	0.25254	1.387726	0.999999086213625	0.74766	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.5	4.35	0.51454	0.827000	0.27075	5.332000	0.48321	0.674000	0.70861	0.028000	0.20300	1.000000	0.68203	0.158000	0.20581	0.642:0.2308:0.0:0.1272	7.285	0.25509	576	0.70006	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1637.81	109	chr16	4381955	.	A	G	1637.81	.	AC=2;AF=0.053;AN=38;DP=1132;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.5;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1665,156,0	18	1	0	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:98,73:184:99:298,0,1545	4	0	15	0
chr16	15363711	15363711	C	0	exonic	NPIPA5	.	.	.	.	475	864	156	18	9	201	0.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5464.38	121	chr16	15363711	.	C	*	5464.38	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.868;DP=1286;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=57.28;MQRankSum=0.535;QD=8.45;ReadPosRankSum=-0.732;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,6:8:66:0|1:15363658_A_G:246,0,66:15363658	17	0	2	0
chr16	15363716	15363716	G	0	exonic	NPIPA5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	32.88	121	chr16	15363716	.	G	*	32.88	.	AC=2;AF=0.056;AN=36;DP=1289;ExcessHet=0;FS=8.372;InbreedingCoeff=0.528;MLEAC=2;MLEAF=0.056;MQ=35.94;QD=0.25;SOR=1.545	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,6:8:49:.:.:295,49,66:.	16	0	2	1
chr16	21031116	21031116	T	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon37:c.A5230T:p.I1744F,DNAH3:NM_017539:exon37:c.A5368T:p.I1790F	.	427	1072	22	1	0	24	0.0110701	.	.	.	2807712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.0373276557389	0.0032	0.00259585	0.0044	0.0008	0.0034	0.0001	0.0011	0.0050	0.0066	0.0084	0.0041267	638	154602	rs148202152	0.0033	0.0033	0.0030	0.0035	0.0144	0.0032	0.0032	0.0119	0.0110	0.0008	0.0040	0.0006	5.038e-05	0.0017	0.0144	0.0031	0.0038	0.0077	0.0032	0.0032	0.0033	0.0031	0.0091	0.0030	0.0029	0.0070	0.0062	0.0006	0	0.0056	0.0003	0	0.0007	0.0272	0.0044	0.0066	0.0091	0.004	0.65419	D	.	.	.	0.995	0.67487	D	0.816	0.58888	P	0.000001	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	0.96	0.42888	T	-3.3	0.65858	D	0.855	0.85132	-0.4226	0.71306	T	0.219	0.58201	T	10	0.023178488	0.00599	T	0.037328	0.57547	D	0.334	0.65620	.	.	0.343788945184	0.33981	0.6633433488230847	0.66271	0.57321118132	0.53386	0.52144408226	0.41829	T	0.343599	0.71223	T	-0.159217	0.26882	T	0.00406961	0.70599	D	0.0416310597211526	0.03987	T	0.945305	0.79188	D	0.52613527	0.68610	0.47302616	0.69453	0.52613527	0.68611	0.47302616	0.69453	-8.304	0.63122	D	.	.	0.540	0.66364	A	.	.	3.442284	0.47889	22.5	0.98258083290942377	0.39639	0.96442	0.69160	D	AEFBI	0.674860	0.64044	D	0.740335135973423	0.82276	7.722354	0.70025386183693	0.82396	7.757018	0.0272882980749738	0.13764	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	2.828000	0.47822	3.455000	0.38473	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.865	0.78840	377	0.83897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.025253	0.004076	0.020468	0.000000	0.025862	0.015244	0.007576	0.02632	1603.33	34	chr16	21031116	.	T	A	1603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=775;ExcessHet=0;FS=3.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.264;SOR=0.455	GT:AD:DP:GQ:PL	0/1:90,64:154:99:1617,0,2665	18	0	1	0
chr16	22110952	22110952	C	T	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon8:c.C647T:p.A216V	.	431	1087	4	0	0	4	0.00183655	.	.	.	2223778	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00409534822999	0.0005	0.00119808	0.0010	0.0001	0.0017	0	0	0.0015	0	0.0002	0.0006468	100	154602	rs149744090	0.0005	0.0005	0.0005	0.0004	0.0031	0.0004	0.0004	0.0020	0.0017	2.992e-05	0.0009	0.0039	2.527e-05	1.882e-05	0.0031	0.0004	0.0009	0.0002	0.0006	0.0006	0.0006	0.0005	0.0017	0.0005	0.0004	0.0012	0.0010	2.405e-05	0	0.0017	0.0017	0	0	0.0034	0.0007	0.0024	0	0.066	0.36113	T	0.103	0.38305	T	0.001	0.07471	B	0.005	0.11217	B	0.870836	0.08826	N	0.932856	1	0.20667	N	0.125	0.08623	N	3.09	0.08371	T	-1.11	0.28703	N	0.095	0.07535	-0.9332	0.43665	T	0.007	0.02244	T	10	0.007252872	0.00165	T	0.004095	0.09775	T	0.050	0.13987	.	.	0.0138822411134	0.00435	0.11190820459780138	0.11119	0.0438462141455	0.04724	0.258060157299	0.04662	T	7.99E-4	0.00383	T	-0.499743	0.00573	T	-0.563427	0.16056	T	0.00694535362926175	0.00079	T	0.59614	0.22137	T	0.017654879	0.00291	0.032229733	0.01925	0.017654879	0.00291	0.032229733	0.01925	-1.301	0.01403	T	.	.	0.082	0.08899	B	.;.;.	.;.;.	0.117811	0.05158	1.679	0.412059504214426	0.02958	0.01957	0.05941	N	AEFBI	0.035698	0.04638	N	-1.15953042177389	0.05625	0.256913	-1.09352176099317	0.07827	0.3822933	0.0010572487770863	0.08170	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.29	2.11	0.26299	0.444000	0.21376	0.285000	0.16810	0.549000	0.26987	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.5634:0.1713:0.2653	4.302	0.10372	407	0.82314	.;von Willebrand factor, type A;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.003788	0.02632	1528.33	33	chr16	22110952	.	C	T	1528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.101;DP=775;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.062;SOR=0.593	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1542,0,1936	18	0	1	0
chr16	24571610	24571610	C	T	exonic	RBBP6	.	nonsynonymous SNV	RBBP6:NM_018703:exon17:c.C4442T:p.P1481L,RBBP6:NM_006910:exon18:c.C4544T:p.P1515L	.	436	1084	2	0	0	2	0.000921659	.	.	.	2687063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00841903027642	.	.	0.0002	0	0	0	0	0	0	0.0015	0.0001552	24	154602	rs749109514	7.608e-05	7.593e-05	5.319e-05	9.921e-05	0.0013	6.436e-05	6.016e-05	0.0011	0.0010	0	0	0	0	0	0.0002	0	3.32e-05	0.0013	6.578e-06	6.569e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.02136	T	0.271	0.27145	T	0.0	0.07471	B	0.001	0.08700	B	0.002385	0.36650	N	0.218470	0.999936	0.21199	N	0.255	0.09829	N	2.49	0.17596	T	-1.2	0.66085	N	0.103	0.17416	-0.9676	0.37693	T	0.019	0.07939	T	10	0.009566158	0.00216	T	0.008419	0.22282	T	0.034	0.08419	0.21	0.12781	0.161926535498	0.15789	0.03618365470199716	0.03565	0.142144434222	0.16027	0.435000956059	0.29894	T	0.137128	0.46988	T	-0.623731	0.00104	T	-0.714275	0.05077	T	0.0135140990669655	0.00248	T	0.818018	0.47523	T	0.018832156	0.00407	0.028733667	0.01138	0.018832156	0.00407	0.028733667	0.01138	-3.857	0.21659	T	.	.	0.060	0.08802	B	.;.;.;.	.;.;.;.	2.649113	0.34491	19.64	0.54699726665305259	0.05190	0.71669	0.35113	D	AEFGBCI	0.085758	0.17387	N	-0.694811983640428	0.16168	0.8213826	-0.491489992969606	0.22387	1.215697	0.965690035516855	0.28848	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	2.61	0.30255	0.639000	0.24378	2.229000	0.31515	-0.202000	0.08738	0.340000	0.25675	0.981000	0.30433	0.907000	0.44265	0.0:0.6639:0.117:0.2191	8.422	0.31866	423	0.81269	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3925.81	33	chr16	24571610	.	C	T	3925.81	.	AC=2;AF=0.053;AN=38;DP=886;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.74;SOR=0.862	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3953,340,0	18	1	0	0
chr16	24907135	24907135	C	T	exonic	SLC5A11	.	nonsynonymous SNV	SLC5A11:NM_001258412:exon11:c.C1015T:p.R339W,SLC5A11:NM_001258414:exon11:c.C757T:p.R253W,SLC5A11:NM_001352237:exon11:c.C928T:p.R310W,SLC5A11:NM_001352247:exon11:c.C844T:p.R282W,SLC5A11:NM_001258411:exon12:c.C1120T:p.R374W,SLC5A11:NM_001258413:exon12:c.C1033T:p.R345W,SLC5A11:NM_001352238:exon12:c.C1120T:p.R374W,SLC5A11:NM_001352245:exon12:c.C949T:p.R317W,SLC5A11:NM_001352246:exon12:c.C949T:p.R317W,SLC5A11:NM_001352250:exon12:c.C1144T:p.R382W,SLC5A11:NM_001352259:exon12:c.C1033T:p.R345W,SLC5A11:NM_052944:exon12:c.C1225T:p.R409W,SLC5A11:NM_001352236:exon13:c.C1033T:p.R345W,SLC5A11:NM_001352242:exon13:c.C1225T:p.R409W,SLC5A11:NM_001352248:exon13:c.C1225T:p.R409W,SLC5A11:NM_001352235:exon14:c.C1186T:p.R396W,SLC5A11:NM_001352249:exon15:c.C1033T:p.R345W	.	405	1115	2	0	0	2	0.000896057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.842	0.1800530578	0.0002	0.000399361	0.0005	0	0.0003	0.0003	0	8.996e-05	0	0.0027	0.0003946	61	154602	rs151082145	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	5.974e-05	0.0002	0	0.0009	0	0.0005	0.0001	0.0001	0.0026	0.0001	0.0001	3.854e-05	0.0002	0.0023	8.164e-05	6.721e-05	0.0013	0.0010	2.406e-05	0	0	0	0.0006	0	0	5.881e-05	0	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.057984	1	0.81001	D	.	.	.	-2.5	0.89219	D	-7.77	0.95842	D	0.907	0.90818	0.976	0.96790	D	0.875	0.95830	D	10	0.065021664	0.08711	T	0.180053	0.85464	D	0.842	0.95063	.	.	0.834500327774	0.83292	0.8817062631188038	0.88138	0.679172418176	0.59923	0.587417304516	0.51130	T	0.263359	0.63503	T	0.112493	0.65609	D	0.384509	0.91590	D	0.298094266774401	0.24925	T	0.991087	0.97691	D	0.9286645	0.94103	0.90711987	0.95483	0.9286645	0.94104	0.90711987	0.95484	-11.56	0.82729	D	.	.	0.305	0.56045	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.347325	0.89703	31	0.99925458480197282	0.99042	0.88439	0.48367	D	AEFBCI	0.907840	0.86237	D	0.910806487616058	0.92279	11.33302	0.836844089160852	0.92224	11.30509	0.996296965586123	0.34649	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	4.754000	0.61888	3.973000	0.40841	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	17.048	0.86384	835	0.38313	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3196.81	33	chr16	24907135	.	C	T	3196.81	.	AC=2;AF=0.053;AN=38;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.74;SOR=0.732	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3224,312,0	18	1	0	0
chr16	29485334	29485334	G	A	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C1142T:p.A381V	.	713	800	5	0	4	9	0.00311526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00191823628313	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433758391	0.0047	0.0060	0.0046	0.0048	0.0058	0.0045	0.0045	0.0051	0.0050	0.0008	0.0058	0.0068	7.393e-05	0.0054	0.0027	0.0053	0.0052	0.0030	0.0017	0.0016	0.0015	0.0020	0.0022	0.0014	0.0013	0.0014	0.0012	0.0005	0	0.0021	0.0064	0	0.0022	0	0.0018	0.0050	0.0022	0.18	0.21968	T	0.364	0.16766	T	.	.	.	.	.	.	.	.	.	.	0.999996	0.08975	N	.	.	.	1.79	0.25509	T	0.27	0.04306	N	0.055	0.02658	-0.9675	0.37713	T	0.020	0.08313	T	4	0.0067388117	0.00153	T	0.001918	0.03404	T	0.011	0.01250	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.320286	0.06874	T	-0.697845	0.05944	T	0.00663782424146427	0.00074	T	0.653735	0.26383	T	.	.	.	.	.	.	.	.	-9.43	0.70423	D	.	.	0.320	0.55521	B	.;.	.;.	0.857128	0.12293	8.835	0.92509375513588699	0.21948	0.00179	0.01050	N	AEFI	0.046331	0.07681	N	-0.741001675265423	0.14879	0.7450008	-0.922566800288337	0.11562	0.5897836	1.09582168514057E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	-1.499000	0.02390	-1.800000	0.04703	-1.327000	0.01220	0.013000	0.18845	0.000000	0.08366	0.002000	0.04165	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	203.71	54	chr16	29485334	.	G	A	203.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=5.21;DP=1137;ExcessHet=0;FS=4.464;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=26.32;MQRankSum=-0.053;QD=2.87;ReadPosRankSum=0.72;SOR=0.059	GT:AD:DP:GQ:PL	0/1:57,14:71:99:217,0,1972	17	0	1	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,43:158:99:0|1:29485610_ACACACTC_A:679,0,4220:29485610	5	0	12	2
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7100.79	44	chr16	29810105	.	GGCAGCGGCA	G	7100.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.01;DP=1075;ExcessHet=1.3;FS=0.522;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.91;SOR=0.613	GT:AD:DP:GQ:PL	0/1:67,48:115:99:1662,0,2586	15	0	4	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1468.78	44	chr16	29810108	.	AGCGGCAGCG	*	1468.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.84;DP=1157;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.673;SOR=0.654	GT:AD:DP:GQ:PL	0/1:67,48:115:99:1662,0,2586	14	0	5	0
chr16	30716132	30716132	G	C	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon17:c.G2560C:p.E854Q	Floating-Harbor syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3711686	Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities|Floating-Harbor_syndrome	MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.810	0.215379527557	.	.	.	.	.	.	.	.	.	.	.	.	.	rs996681890	4.104e-06	4.104e-06	1.361e-06	6.875e-06	6.956e-05	1.48e-06	9.7e-07	2.995e-05	2.038e-05	0	0	0	0	0	0	0	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000037	0.55875	D	0.000000	1	0.81001	D	3.14	0.88230	M	-1.25	0.79072	T	-2.86	0.60188	D	0.747	0.76853	0.462	0.89999	D	0.671	0.88594	D	10	0.8463007	0.83796	D	0.21538	0.87505	D	0.810	0.93854	0.723	0.85761	0.634148587145	0.63114	0.7845267307208892	0.78403	0.529892985118	0.50547	0.850178360939	0.89642	D	0.759567	0.93476	D	0.218513	0.75636	D	0.25763	0.85984	D	0.830170929431915	0.48543	D	0.995238	0.98377	D	0.8780056	0.89504	0.6557366	0.79843	0.8780056	0.89505	0.6557366	0.79844	-13.5	0.91317	D	0.4719614492503036	0.55224	0.981	0.91385	P	.;.	.;.	4.859931	0.79517	27.1	0.99725662555792638	0.82406	0.99569	0.97542	D	AEFGBI	0.891731	0.82798	D	0.94759596091572	0.93888	12.34847	0.903347974075505	0.95715	13.89563	0.999999999999979	0.74766	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	8.078000	0.89313	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.783	0.88439	10	0.99061	SNF2-related, N-terminal domain;SNF2-related, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1388.33	35	chr16	30716132	.	G	C	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.41;DP=736;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.279;SOR=0.781	GT:AD:DP:GQ:PL	0/1:58,48:106:99:1402,0,1362	18	0	1	0
chr16	47503085	47503085	G	A	exonic	PHKB	.	nonsynonymous SNV	PHKB:NM_000293:exon4:c.G400A:p.D134N,PHKB:NM_001363837:exon4:c.G400A:p.D134N,PHKB:NM_001031835:exon5:c.G379A:p.D127N	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Autosomal recessive	1	1492	26	3	0	32	0.0106101	.	.	.	335076	not_provided|PHKB-related_disorder|Glycogen_storage_disease_IXb	MedGen:C3661900|.|MONDO:MONDO:0009868,MedGen:C0543514,OMIM:261750,Orphanet:79240	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.612	0.119092153512	0.0015	0.000599042	0.0019	0.0013	0.0034	0	0	0.0020	0.0023	0.0024	0.0017011	263	154602	rs144486825	0.0016	0.0016	0.0015	0.0017	0.0126	0.0016	0.0015	0.0102	0.0094	0.0012	0.0031	0	0	0.0002	0.0126	0.0016	0.0024	0.0021	0.0018	0.0018	0.0018	0.0018	0.0037	0.0016	0.0016	0.0029	0.0026	0.0013	0	0.0037	0	0	9.423e-05	0.0170	0.0020	0.0057	0.0023	0.068	0.35726	T	0.036	0.53072	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	-3.19	0.93170	D	-2.31	0.51319	N	0.556	0.60325	0.892	0.95566	D	0.884	0.96159	D	10	0.026918948	0.00848	T	0.119092	0.79931	D	0.612	0.84826	.	.	0.962697865947	0.96230	0.5562157726102552	0.55548	0.354588915174	0.37230	0.78490960598	0.79669	T	0.392223	0.84110	T	-0.224093	0.17437	T	-0.0977215	0.63573	T	0.0264793189095047	0.01472	T	0.89811	0.67676	D	0.19138451	0.40763	0.18787888	0.42045	0.17169397	0.37817	0.17801599	0.40441	-6.645	0.51395	T	.	.	0.096	0.18456	B	.;.;.;.;.	.;.;.;.;.	5.364450	0.89950	31	0.99886081363215651	0.96126	0.98641	0.85033	D	AEFGBI	0.900939	0.84705	D	0.8341482854824	0.88186	9.485366	0.823857271462112	0.91399	10.86797	0.999999999999348	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	8.023000	0.89142	9.740000	0.81431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.648	0.95784	166	0.93555	GH15-like domain;.;.;GH15-like domain;GH15-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012601	0.010101	0.019022	0.011696	0.000000	0.008621	0.018405	0.000000	0.02632	1195.33	34	chr16	47503085	.	G	A	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=724;ExcessHet=0;FS=3.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.954;SOR=1.068	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1209,0,1426	18	0	1	0
chr16	48140854	48140854	C	A	exonic	ABCC12	.	stopgain	ABCC12:NM_033226:exon4:c.G490T:p.G164X	.	425	1061	35	1	0	37	0.0171376	.	.	.	703702	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0014	0.00119808	0.0032	0.0004	0.0006	0	0.0009	0.0034	0.0011	0.0087	0.0028784	445	154602	rs141807269	0.0021	0.0021	0.0019	0.0023	0.0104	0.0021	0.0021	0.0083	0.0075	0.0004	0.0006	0.0002	5.038e-05	0.0009	0.0104	0.0019	0.0023	0.0082	0.0014	0.0014	0.0014	0.0014	0.0081	0.0012	0.0012	0.0061	0.0054	0.0003	0	0.0007	0	0	0.0008	0.0102	0.0020	0.0014	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	0.004654	0.33526	N	0.344054	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361325	0.04056	T	-0.286104	0.46176	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.081074	0.84794	28.4	0.93863987950316063	0.23871	0.57121	0.30294	D	AEFBI	0.098367	0.19823	N	-0.117883246915675	0.36613	2.118756	-0.491910688850162	0.22376	1.215025	0.990015819891589	0.32009	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.95	-5.7	0.02226	1.102000	0.30662	-0.426000	0.09253	-0.773000	0.03420	0.793000	0.29632	0.000000	0.08366	0.001000	0.02609	0.1014:0.5357:0.0:0.363	9.205	0.36446	518	0.74548	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane 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	0.011078	0.000000	0.016304	0.011696	0.000000	0.008621	0.012195	0.011364	0.02632	986.33	33	chr16	48140854	.	C	A	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.157;DP=737;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.635;SOR=0.616	GT:AD:DP:GQ:PL	0/1:67,42:109:99:1000,0,1879	18	0	1	0
chr16	48193938	48193938	C	T	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon18:c.G2449A:p.V817I,ABCC11:NM_001370496:exon19:c.G2455A:p.V819I,ABCC11:NM_001370497:exon19:c.G2449A:p.V817I,ABCC11:NM_032583:exon20:c.G2449A:p.V817I,ABCC11:NM_145186:exon20:c.G2449A:p.V817I	.	.	.	.	.	.	.	.	.	.	.	4103172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.00254716806027	.	.	1.655e-05	0	0	0	0	1.503e-05	0	6.092e-05	1.29e-05	2	154602	rs746479478	1.231e-05	1.231e-05	1.361e-05	1.1e-05	7.557e-05	7.7e-06	6.35e-06	2.004e-05	1.055e-05	2.987e-05	0	0	7.557e-05	1.873e-05	0	8.994e-06	0	3.478e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.617	0.05357	T	1.0	0.01155	T	0.003	0.11197	B	0.001	0.08700	B	0.904787	0.07378	N	1.047410	1	0.08975	N	-0.345	0.03330	N	1.13	0.38556	T	0.09	0.05917	N	0.069	0.06454	-0.9899	0.32626	T	0.039	0.16806	T	10	0.05310756	0.05449	T	0.002547	0.05121	T	0.029	0.06676	0.543	0.65589	0.134241683229	0.13084	0.3415848637382305	0.34071	0.074021349871	0.08297	0.302987247705	0.10847	T	0.153646	0.49458	T	-0.422965	0.01638	T	-0.663809	0.08012	T	0.0338121728788225	0.02606	T	0.415758	0.10904	T	0.017221112	0.00255	0.021896325	0.00227	0.017221112	0.00255	0.021896325	0.00227	-3.439	0.15587	T	.	.	0.070	0.05145	B	.;.;.;.	.;.;.;.	-2.155191	0.00071	0.001	0.37868302194675002	0.02521	0.02632	0.07225	N	AEFDBHCI	0.036289	0.04810	N	-2.02206706057285	0.00190	0.00812542	-2.05760261244293	0.00230	0.01015201	0.995578071225342	0.34201	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.24	-7.58	0.01172	-1.955000	0.01614	-5.434000	0.01720	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0926:0.395:0.0:0.5123	9.456	0.37921	530	0.73653	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1285.33	35	chr16	48193938	.	C	T	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.166;SOR=0.68	GT:AD:DP:GQ:PL	0/1:35,53:88:99:1299,0,800	18	0	1	0
chr16	48200454	48200454	G	T	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon14:c.C1904A:p.S635Y,ABCC11:NM_001370496:exon15:c.C1904A:p.S635Y,ABCC11:NM_001370497:exon15:c.C1904A:p.S635Y,ABCC11:NM_032583:exon16:c.C1904A:p.S635Y,ABCC11:NM_145186:exon16:c.C1904A:p.S635Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.214601441581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	0.999949	0.51968	D	5.26	0.99968	H	-5.19	0.98838	D	-5.74	0.87687	D	0.835	0.94550	0.975	0.96777	D	0.988	0.99637	D	10	0.95825386	0.95206	D	0.214601	0.87466	D	0.912	0.97662	.	.	0.98032590983	0.98010	0.9325910892648644	0.93238	0.547561883492	0.51719	0.604858756065	0.53590	T	0.735157	0.92619	D	0.522232	0.94937	D	0.512374	0.94863	D	0.999367535114288	0.97117	D	0.989326	0.96464	D	0.9334256	0.94581	0.94982827	0.98389	0.9334256	0.94581	0.94982827	0.98389	-12.946	0.89139	D	.	.	0.819	0.83968	P	.;.;.;.	.;.;.;.	4.361113	0.67059	25.0	0.99570348501886996	0.72379	0.95561	0.65212	D	AEFI	0.435527	0.49613	N	0.96256590057984	0.94470	12.78383	0.820810925430301	0.91201	10.76864	0.999910101660829	0.45857	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	2.791000	0.47520	4.303000	0.42946	0.662000	0.56354	0.997000	0.40164	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.116	0.86568	530	0.73653	ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1279.33	33	chr16	48200454	.	G	T	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.775;DP=701;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.77;ReadPosRankSum=-0.675;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,45:72:99:1293,0,704	18	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	1250.38	33	chr16	50669118	.	A	G	1250.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.51;DP=1657;ExcessHet=1.3;FS=136.809;InbreedingCoeff=-0.1517;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.795;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,19:159:99:0|1:50669118_A_G:206,0,5246:50669118	14	0	5	0
chr16	50675802	50675802	G	A	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_001144972:exon3:c.C250T:p.R84C,SNX20:NM_153337:exon3:c.C250T:p.R84C,SNX20:NM_182854:exon3:c.C250T:p.R84C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.132870651717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364424556	6.844e-06	6.84e-06	8.172e-06	5.503e-06	8.995e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.995e-06	0	0	6.575e-06	6.568e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.515	0.73286	M	0.43	0.57261	T	-7.81	0.95950	D	0.683	0.70527	-0.3353	0.73979	T	0.332	0.69919	T	10	0.8052862	0.79876	D	0.132871	0.81522	D	0.444	0.74657	0.639	0.77579	0.705806587398	0.70324	0.628651400116222	0.62798	1.197488769	0.80448	0.377230912447	0.21863	T	0.210604	0.57114	T	-0.00195572	0.51384	T	-0.0590578	0.66398	T	0.998775899410248	0.95127	D	0.934007	0.75281	D	0.5683993	0.70972	0.37224916	0.62437	0.5683993	0.70973	0.37224916	0.62437	-4.783	0.76438	T	.	.	0.209	0.43788	B	.;.;.;.	.;.;.;.	4.929838	0.81271	27.5	0.99922704355987124	0.98852	0.90596	0.51903	D	AEFDBHCI	0.750886	0.69187	D	0.523448736035071	0.68478	5.222954	0.442403274747775	0.64231	4.673514	0.999989143851226	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.66	3.55	0.39770	3.106000	0.50013	6.994000	0.57171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.438000	0.27627	0.0:0.0:0.4922:0.5078	11.429	0.49273	772	0.48957	.;.;Phox homologous domain|Phox homologous domain;Phox homologous domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1288.33	34	chr16	50675802	.	G	A	1288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=764;ExcessHet=0;FS=3.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.701;SOR=0.443	GT:AD:DP:GQ:PL	0/1:83,51:134:99:1302,0,1979	18	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G,NAE1:NM_001286500:exon6:c.A356G:p.D119G,NAE1:NM_003905:exon6:c.A347G:p.D116G,NAE1:NM_001018159:exon7:c.A329G:p.D110G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	441.61	39	chr16	66823281	.	T	C	441.61	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.833;DP=1524;ExcessHet=1.3;FS=221.541;InbreedingCoeff=-0.1732;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.452;SOR=10.787	GT:AD:DP:GQ:PL	0/1:97,29:126:99:114,0,2102	13	0	5	1
chr16	66964467	66964467	C	T	exonic	CES3	.	nonsynonymous SNV	CES3:NM_001185177:exon5:c.C671T:p.T224I,CES3:NM_024922:exon5:c.C671T:p.T224I	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.742	0.00992272925562	0.0041	0.000599042	0.0027	0.0009	0.0011	0	0.0047	0.0040	0.0022	0.0002	0.0026714	413	154602	rs113184828	0.0043	0.0043	0.0045	0.0042	0.0053	0.0043	0.0042	0.0051	0.0051	0.0005	0.0011	0.0002	0	0.0037	0.0007	0.0053	0.0036	0.0003	0.0024	0.0024	0.0026	0.0021	0.0040	0.0022	0.0021	0.0036	0.0035	0.0007	0	0.0002	0	0	0.0044	0	0.0040	0.0024	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000615	0.42945	D	0.000000	0.999959	0.52396	D	4.12	0.97420	H	-1.25	0.79072	T	-5.87	0.88630	D	0.879	0.89131	0.729	0.93531	D	0.702	0.89749	D	10	0.13130686	0.24989	T	0.009923	0.25833	T	0.742	0.91069	.	.	0.842161495492	0.84064	0.9189681071930712	0.91872	0.626001001242	0.56752	0.641527831554	0.58782	T	0.820148	0.95594	D	-0.0462863	0.45009	T	0.160729	0.80852	D	0.156912729144096	0.17640	T	0.947605	0.81197	D	0.6848249	0.77230	0.7115467	0.82983	0.6848249	0.77231	0.7115467	0.82984	-11.052	0.79942	D	.	.	0.883	0.81653	P	.;.	.;.	3.515009	0.49240	22.7	0.99886004712495136	0.96126	0.98091	0.79521	D	AEFDGBI	0.586765	0.58468	D	0.802261972650816	0.86246	8.824457	0.613716327232642	0.75937	6.39941	0.999999997284221	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.530356	0.10902	0	.	.	3.98	3.98	0.45383	5.500000	0.66660	4.274000	0.42857	0.598000	0.34611	1.000000	0.71638	0.999000	0.35428	0.104000	0.18471	0.0:1.0:0.0:0.0	15.155	0.72410	150	0.94078	Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1604.33	42	chr16	66964467	.	C	T	1604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.796;DP=763;ExcessHet=0;FS=1.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.368;SOR=0.678	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1618,0,1647	18	0	1	0
chr16	70252837	70252837	C	T	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon21:c.G2791A:p.G931S	.	0	1454	67	1	0	69	0.0231777	.	.	.	165489	not_specified|not_provided|Charcot-Marie-Tooth_disease_type_2|Charcot-Marie-Tooth_disease_axonal_type_2N	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.732	.	0.0076	0.00259585	0.0071	0.0012	0.0054	0	0.0024	0.0109	0.0099	0.0024	0.0072379	1119	154602	rs149377346	0.0092	0.0092	0.0091	0.0092	0.0281	0.0090	0.0090	0.0246	0.0232	0.0017	0.0064	0.0359	5.038e-05	0.0022	0.0281	0.0099	0.0103	0.0025	0.0071	0.0071	0.0076	0.0067	0.0098	0.0068	0.0066	0.0092	0.0089	0.0019	0.0296	0.0092	0.0274	0.0002	0.0019	0.0374	0.0098	0.0137	0.0037	0.206	0.19927	T	0.103	0.38305	T	0.991	0.64070	D	0.888	0.63021	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	-2.02	0.85542	D	-5.05	0.82700	D	0.676	0.68342	0.547	0.91189	D	0.714	0.90177	D	10	0.014511377	0.00305	T	.	.	.	0.732	0.90633	.	.	0.906813178185	0.90588	0.8323583257319518	0.83194	0.670430016386	0.59412	0.784261286259	0.79572	T	0.687839	0.90896	D	-0.240134	0.15332	T	-0.107324	0.62825	T	0.0231731431537159	0.01044	T	0.964804	0.86967	D	0.5661112	0.70847	0.40947896	0.65236	0.64004415	0.74834	0.45679823	0.68429	-10.392	0.76224	D	0.31644635950522565	0.41449	0.726	0.74026	P	.	.	4.897967	0.80482	27.3	0.99840427238722196	0.92057	0.97261	0.73647	D	ALL	0.952292	0.96762	D	0.802417178059142	0.86256	8.827541	0.746874004952094	0.85922	8.727716	1.0	0.98316	0.716459	0.82106	0	0.697927	0.68747	0	0.73237	0.93354	0	0.691587	0.68394	0	.	.	5.36	5.36	0.76624	7.845000	0.85166	7.525000	0.59824	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	16.590	0.84614	152	0.94023	DHHA1 domain	.	.	.	.	rs149377346	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	0.020645	0.010101	0.031250	0.032164	0.000000	0.025862	0.009146	0.003788	0.05263	4800.83	33	chr16	70252837	.	C	T	4800.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.262;DP=964;ExcessHet=0.119;FS=4.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.404;SOR=0.565	GT:AD:DP:GQ:PL	0/1:79,92:171:99:2280,0,2043	17	0	2	0
chr16	81912673	81912673	A	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon19:c.A2011G:p.I671V	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	3	1438	76	5	0	86	0.0290344	.	.	.	433831	not_provided|Familial_cold_autoinflammatory_syndrome_3	MedGen:C3661900|MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.306	.	0.0018	0.00499201	0.0061	0.0002	0.0017	0	0.0002	0.0043	0.0054	0.0277	0.0050193	776	154602	rs150833842	0.0036	0.0036	0.0029	0.0043	0.0249	0.0035	0.0035	0.0240	0.0237	0.0007	0.0021	0.0090	2.521e-05	0.0011	0.0210	0.0021	0.0049	0.0249	0.0023	0.0023	0.0020	0.0026	0.0228	0.0021	0.0020	0.0194	0.0181	0.0006	0	0.0016	0.0046	0	0.0007	0.0170	0.0023	0.0028	0.0228	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.046780	0.999998	0.58761	D	-0.83	0.01527	N	-2.54	0.89496	D	0.39	0.03521	N	0.273	0.30914	-0.7113	0.59888	T	0.248	0.61774	T	10	0.014680892	0.00308	T	.	.	.	0.306	0.62729	.	.	0.458321483586	0.45457	0.3605344681693968	0.35967	0.233159527858	0.25850	0.529252409935	0.42928	T	0.372621	0.73677	T	-0.365975	0.03803	T	-0.27955	0.46849	T	0.00681991507380742	0.00077	T	0.828817	0.49341	T	0.09416458	0.22132	0.059568785	0.11203	0.06277723	0.13149	0.060827643	0.11646	-4.007	0.23909	T	.	.	0.136	0.35767	B	.;.	.;.	1.439151	0.18583	13.82	0.45145866147430147	0.03522	0.86997	0.46408	D	AEFDBCI	0.420339	0.48720	N	-0.632609026884171	0.17970	0.9292605	-0.410543867457214	0.24687	1.353322	0.999848504764815	0.43971	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.11	4.01	0.45821	3.139000	0.50273	2.718000	0.34289	0.668000	0.69082	0.994000	0.38300	0.980000	0.30356	0.583000	0.30967	0.9082:0.0:0.0918:0.0	9.248	0.36697	929	0.16858	SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain	.	.	.	.	.	Likely benign	0	0	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	0.020645	0.000000	0.023098	0.017647	0.100000	0.008621	0.021341	0.015152	0.07895	1963.79	33	chr16	81912673	.	A	G	1963.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.274;DP=711;ExcessHet=0.3672;FS=1.304;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.748;SOR=0.573	GT:AD:DP:GQ:PL	0/1:22,32:54:99:895,0,546	16	0	3	0
chr16	83959356	83959356	G	A	exonic	OSGIN1	.	nonsynonymous SNV	OSGIN1:NM_182981:exon3:c.G164A:p.R55K	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0019	0.00359425	0.0033	0.0002	0.0005	0	0.0002	0.0025	0.0067	0.0130	0.0030013	464	154602	rs143490160	0.0022	0.0022	0.0018	0.0025	0.0118	0.0021	0.0021	0.0112	0.0109	0.0002	0.0006	0.0241	2.519e-05	7.515e-05	0.0099	0.0011	0.0034	0.0118	0.0018	0.0018	0.0017	0.0018	0.0104	0.0016	0.0015	0.0081	0.0073	0.0002	0	0.0007	0.0239	0	0	0.0204	0.0014	0.0057	0.0104	0.635	0.09101	T	0.951	0.02934	T	0.013	0.16609	B	0.005	0.11217	B	0.003357	0.35069	N	0.354054	0.945505	0.26659	N	1.725	0.44537	L	2.0	0.41058	T	-0.17	0.10136	N	0.278	0.32259	-1.0072	0.27789	T	0.025	0.10821	T	10	0.006587893	0.00149	T	.	.	.	0.075	0.21907	.	.	0.358540694251	0.35469	0.5104524079521334	0.50967	0.0971889597224	0.10982	0.455946445465	0.32756	T	0.004022	0.11817	T	-0.538629	0.00341	T	-0.536092	0.18682	T	0.00412382532917024	0.00044	T	0.618038	0.23687	T	0.09735337	0.22948	0.09272114	0.21864	0.09735337	0.22947	0.09272114	0.21864	.	.	.	.	.	0.078	0.11414	B	.;.;.;.;.	.;.;.;.;.	2.641038	0.34369	19.61	0.87868565668014598	0.17542	0.79868	0.39664	D	AEFBCI	0.515469	0.54241	D	-0.497844963874124	0.22151	1.180779	-0.317199824682414	0.27542	1.529072	0.998143067377048	0.36487	0.566229	0.32551	0	0.588066	0.40923	0	0.578056	0.29568	0	0.674467	0.66132	0	.	.	4.72	3.65	0.40985	1.881000	0.39273	3.342000	0.37715	0.613000	0.49114	0.999000	0.42656	1.000000	0.68203	0.984000	0.60418	0.1936:0.0:0.8064:0.0	9.156	0.36153	912	0.21483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.011696	0.000000	0.008621	0.015244	0.007576	0.05263	2176.83	38	chr16	83959356	.	G	A	2176.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.08;DP=876;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.27;SOR=0.664	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1358,0,1319	17	0	2	0
chr16	84195654	84195654	C	T	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_001145400:exon6:c.C1009T:p.L337F,ADAD2:NM_139174:exon7:c.C1255T:p.L419F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.366484127413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.388e-06	1.368e-06	1.38e-06	1.395e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.062e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.133	0.34359	T	0.472	0.40908	P	0.266	0.43079	B	0.000614	0.42945	N	0.154813	0.997754	0.44161	D	1.415	0.35607	L	-3.86	0.95891	D	-3.39	0.66896	D	0.452	0.48963	0.283	0.87292	D	0.737	0.91011	D	10	0.57851696	0.65717	D	0.366484	0.92640	D	0.583	0.83249	0.753	0.88319	0.881420037493	0.88026	0.5950961125939608	0.59439	.	.	0.545715928078	0.45253	T	0.474725	0.80606	T	0.141975	0.68512	D	-0.0338385	0.68114	D	0.922850608825684	0.58319	D	0.661834	0.27067	T	0.25956485	0.49010	0.30864418	0.56882	0.25956485	0.49010	0.30864418	0.56881	-9.239	0.74466	D	.	.	0.176	0.38409	B	.;.	.;.	2.329730	0.29844	18.25	0.99339753321677038	0.60131	0.77188	0.37924	D	AEFDBI	0.305354	0.41280	N	-0.112205718548173	0.36861	2.136441	-0.107633938983665	0.35081	2.025427	0.999641224177652	0.41316	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	2.13	0.26445	1.491000	0.35192	1.307000	0.25513	0.594000	0.32500	0.997000	0.40164	0.811000	0.27038	0.949000	0.49496	0.1672:0.6513:0.0:0.1815	5.248	0.14823	754	0.51307	.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2316.33	62	chr16	84195654	.	C	T	2316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.264;DP=1013;ExcessHet=0;FS=3.578;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.27;SOR=0.476	GT:AD:DP:GQ:PL	0/1:80,89:169:99:2330,0,2125	18	0	1	0
chr16	84849457	84849457	C	A	exonic	CRISPLD2	.	nonsynonymous SNV	CRISPLD2:NM_031476:exon4:c.C432A:p.S144R	.	424	1091	6	1	0	8	0.00365297	.	.	.	726850	not_provided|CRISPLD2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.0145987263879	0.0040	0.00259585	0.0038	0.0009	0.0024	0	0.0012	0.0051	0.0055	0.0047	0.0037128	574	154602	rs138500867	0.0057	0.0057	0.0057	0.0057	0.0067	0.0056	0.0056	0.0066	0.0065	0.0010	0.0023	0.0008	2.519e-05	0.0008	0.0016	0.0067	0.0048	0.0046	0.0033	0.0033	0.0035	0.0032	0.0057	0.0031	0.0030	0.0053	0.0051	0.0013	0	0.0017	0.0009	0	0.0007	0	0.0057	0.0043	0.0035	0.138	0.25873	T	0.247	0.23914	T	0.005	0.12996	B	0.022	0.19653	B	0.001893	0.37740	N	0.316194	0.938719	0.26856	N	-0.145	0.04423	N	-0.13	0.65006	T	1.64	0.00765	N	0.303	0.34228	-1.0753	0.08287	T	0.071	0.28936	T	10	0.0067970753	0.00154	T	0.014599	0.34823	T	0.033	0.08068	0.459	0.52590	0.492542987314	0.48886	0.7341027797852121	0.73355	0.0837041349746	0.09440	0.441211014986	0.30742	T	0.003398	0.02809	T	-0.516835	0.00459	T	-0.513393	0.20966	T	0.0323370663339925	0.02360	T	0.886311	0.61284	D	0.06201514	0.12907	0.08998527	0.21074	0.06201514	0.12906	0.08998527	0.21073	-1.511	0.01787	T	.	.	0.170	0.47404	B	.;.;.	.;.;.	1.152381	0.15405	11.83	0.9905945426127869	0.51459	0.18566	0.20313	N	AEFDBI	0.183229	0.31056	N	-0.620419292017706	0.18332	0.9508687	-0.477638243530162	0.22770	1.23847	0.999999380388746	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.584781	0.30282	0	0.542086	0.14980	0	.	.	5.82	2.5	0.29355	-1.499000	0.02390	-9.545000	0.00807	-0.201000	0.08892	0.002000	0.15269	0.000000	0.08366	0.949000	0.49496	0.0:0.6063:0.0:0.3937	7.533	0.26862	964	0.07719	CAP domain|CAP domain;CAP domain|CAP 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	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1284.33	68	chr16	84849457	.	C	A	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=1080;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.924;SOR=0.671	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1298,0,1253	18	0	1	0
chr16	85918488	85918488	G	A	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363908:exon5:c.G61A:p.E21K,IRF8:NM_001363907:exon7:c.G703A:p.E235K,IRF8:NM_002163:exon7:c.G673A:p.E225K	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	949617	Immunodeficiency_32B|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Inborn_genetic_diseases	MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566|MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.358	0.108243102399	.	.	1.784e-05	0	0	0	0	1.614e-05	0	7.032e-05	1.29e-05	2	154602	rs760910506	3.96e-05	3.967e-05	3.452e-05	4.474e-05	0.0002	3.094e-05	2.826e-05	3.806e-05	2.688e-05	0	9.013e-05	0	0	0	0.0002	3.975e-05	1.674e-05	8.213e-05	4.599e-05	4.596e-05	3.853e-05	5.379e-05	0.0001	2.109e-05	1.527e-05	2.261e-05	1.124e-05	2.412e-05	0	0.0001	0	0	0	0	5.879e-05	0	0	0.058	0.46910	T	0.069	0.47581	T	0.015	0.17086	B	0.029	0.21540	B	0.000039	0.55875	N	0.190976	0.999981	0.58761	D	2.33	0.66821	M	-3.37	0.94114	D	-3.17	0.64826	D	0.455	0.49874	0.056	0.83350	D	0.691	0.89345	D	10	0.6420283	0.69112	D	0.108243	0.78469	D	0.358	0.67872	0.56	0.67958	0.748740015085	0.74647	0.7399799543313939	0.73942	0.621049151997	0.56401	0.483364105225	0.36519	T	0.887709	0.97694	D	-0.0146297	0.49616	T	-0.0760231	0.65193	T	0.780009686946869	0.45050	D	0.851115	0.58533	D	0.18626575	0.40027	0.16356173	0.37936	0.18626575	0.40027	0.16356173	0.37935	-5.848	0.44990	T	0.3230439331083149	0.42120	0.093	0.23952	B	.;.;.;.	.;.;.;.	3.137362	0.42422	21.5	0.99633426971370564	0.76203	0.92789	0.56549	D	AEFDBCI	0.690363	0.65072	D	-0.305441937631649	0.28941	1.60058	-0.174147633476257	0.32491	1.848983	0.999999986503487	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.95	3.0	0.33773	4.501000	0.60115	4.421000	0.43316	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.1493:0.0:0.8507:0.0	11.245	0.48221	969	0.06854	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1096.33	35	chr16	85918488	.	G	A	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.154;DP=699;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=1.05;SOR=0.848	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1110,0,807	18	0	1	0
chr16	88733964	88733964	-	TCC	exonic	PIEZO1	.	nonframeshift insertion	PIEZO1:NM_001142864:exon17:c.2270_2271insGGA:p.E756_D757insE	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	0	218	7	0	1	8	0.0158014	.	.	.	1196173	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0109	0.0108	0.0111	0	0	0.0082	0	0.0150	0.0010758	28	26028	rs770832408	0.0059	0.0058	0.0057	0.0062	0.0200	0.0058	0.0058	0.0170	0.0159	0.0154	0.0063	0.0069	0.0007	0.0040	0.0200	0.0052	0.0076	0.0126	0.0086	0.0087	0.0085	0.0088	0.0152	0.0082	0.0081	0.0142	0.0138	0.0152	0.0088	0.0120	0.0093	0.0006	0.0028	0.0170	0.0054	0.0105	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4365.75	33	chr16	88733964	.	G	GTCC	4365.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.839;DP=994;ExcessHet=0.3672;FS=1.515;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.446;SOR=0.747	GT:AD:DP:GQ:PL	0/1:44,37:81:99:1359,0,1687	16	0	3	0
chr17	2058672	2058672	T	G	exonic	HIC1	.	nonsynonymous SNV	HIC1:NM_001098202:exon2:c.T2039G:p.F680C,HIC1:NM_006497:exon2:c.T1982G:p.F661C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0755930489494	.	.	4.187e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs756712980	5.682e-06	5.472e-06	2.816e-06	8.6e-06	8.736e-05	2.44e-06	1.77e-06	4.022e-05	2.827e-05	0	0	0	0	0	0	0	1.709e-05	8.736e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.52492	D	0.019	0.59732	D	0.993	0.65571	D	0.788	0.57636	P	.	.	.	.	0.992405	0.41636	D	0.55	0.14455	N	3.26	0.07125	T	-2.91	0.60982	D	0.435	0.50958	-1.0459	0.15563	T	0.028	0.12190	T	9	0.23497674	0.40549	T	0.075593	0.72325	D	0.190	0.46781	0.395	0.42099	0.353974658523	0.35008	0.5135231833850376	0.51274	.	.	0.790588438511	0.80533	T	0.300254	0.67275	T	-0.20259	0.20432	T	-0.264355	0.48389	T	0.426507532596588	0.29931	T	0.767423	0.39577	T	0.23956703	0.46848	0.23639423	0.48909	0.23956703	0.46848	0.23639423	0.48908	-6.079	0.47834	T	.	.	0.887	0.85602	P	.;.;.	.;.;.	5.450204	0.91039	32	0.98833237204141156	0.46985	0.70309	0.34537	D	ALL	0.864640	0.78350	D	0.333399941973558	0.57869	3.956182	0.355267185436895	0.58826	4.055647	0.999999999999989	0.74766	0.67177	0.52595	0	0.504199	0.08210	0	0.666236	0.60216	0	0.711	0.71501	0	.	.	4.23	4.23	0.49319	2.651000	0.46338	7.726000	0.67550	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	13.139	0.58844	324	0.86790	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001524	0.000000	0.001366	0.002976	0.000000	0.000000	0.000000	0.003788	0.02632	1499.33	42	chr17	2058672	.	T	G	1499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.292;DP=838;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.513;SOR=0.847	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1513,0,1203	18	0	1	0
chr17	3679708	3679708	G	A	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon10:c.C1069T:p.P357S,P2RX5:NM_175080:exon10:c.C1066T:p.P356S,P2RX5:NM_001204519:exon11:c.C1138T:p.P380S,P2RX5:NM_002561:exon11:c.C1141T:p.P381S	.	398	1120	4	0	0	4	0.00178253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00257416159514	.	0.00139776	0.0006	0	0	0	0	9.055e-05	0.0011	0.0038	0.0005175	80	154602	rs551135311	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0032	0.0030	2.987e-05	0	0	0	0	0.0003	3.418e-05	0.0005	0.0035	0.0001	0.0001	7.713e-05	0.0002	0.0039	8.663e-05	7.255e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0.0005	0.0039	0.015	0.61437	D	0.02	0.62352	D	0.149	0.59353	B	0.08	0.61067	B	0.001530	0.00796	N	3.984380	1	0.08975	N	0.345	0.11182	N	3.7	0.07236	T	-1.67	0.39887	N	0.121	0.19459	-1.0377	0.18016	T	0.025	0.10598	T	10	0.006128013	0.00138	T	0.002574	0.05178	T	0.050	0.13987	0.185	0.09388	0.0846915920261	0.08053	0.3055427201863783	0.30467	0.142616884564	0.16085	0.377548962831	0.21908	T	0.043312	0.29805	T	-0.601028	0.00144	T	-0.636256	0.09944	T	0.0266673105655771	0.01497	T	0.529847	0.17555	T	0.037309535	0.04758	0.043349598	0.05373	0.037309535	0.04757	0.043349598	0.05373	-3.421	0.16014	T	.	.	0.085	0.17488	B	.;.;.;.;.;.	.;.;.;.;.;.	0.677094	0.10455	7.174	0.94058116700210925	0.24191	0.05624	0.11532	N	AEFDBCI	0.034195	0.04193	N	-1.13901665863811	0.05963	0.2732477	-1.2922458268647	0.04535	0.2141128	0.0430928028723366	0.14555	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	1.48	-1.63	0.07900	-0.099000	0.10976	0.545000	0.19369	-0.936000	0.02120	0.018000	0.19461	0.001000	0.17328	0.000000	0.00833	0.2334:0.0:0.4512:0.3153	1.884	0.03037	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1014.33	41	chr17	3679708	.	G	A	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.63;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.49;SOR=0.632	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1028,0,1291	18	0	1	0
chr17	4739332	4739332	C	G	exonic	CXCL16	.	nonsynonymous SNV	CXCL16:NM_001100812:exon1:c.G65C:p.R22P,CXCL16:NM_022059:exon1:c.G65C:p.R22P	.	402	1067	50	3	0	56	0.0255708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0075	0.0071885	0.0108	0.0091	0.0043	0	0.0038	0.0122	0.0081	0.0190	0.0086868	1343	154602	rs151229852	0.0084	0.0084	0.0081	0.0087	0.0234	0.0083	0.0082	0.0202	0.0189	0.0081	0.0033	0.0143	0	0.0024	0.0234	0.0082	0.0090	0.0186	0.0076	0.0076	0.0080	0.0071	0.0155	0.0072	0.0070	0.0127	0.0117	0.0077	0	0.0049	0.0110	0.0004	0.0032	0.0068	0.0086	0.0090	0.0155	0.029	0.45756	D	0.08	0.41913	T	.	.	.	.	.	.	0.001331	0.00770	N	4.572020	1	0.08975	N	.	.	.	1.28	0.35960	T	-1.45	0.35597	N	0.039	0.01274	-1.0551	0.13013	T	0.035	0.15074	T	10	0.0037389696	0.00069	T	.	.	.	0.039	0.10176	.	.	0.0986583533028	0.09354	0.16216044450475545	0.16136	0.250793124165	0.27656	0.316248208284	0.12852	T	.	.	.	-0.595028	0.00156	T	-0.613213	0.11725	T	0.0047942137709534	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23535	B	.;.	.;.	-0.849950	0.01012	0.042	0.70513484036691765	0.09320	0.02421	0.06840	N	AEFDGBHCI	0.172192	0.29921	N	-1.71474974148589	0.00791	0.03416454	-1.82558825961908	0.00680	0.03028378	0.999999988637891	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	3.32	-5.98	0.02034	-3.068000	0.00682	-6.206000	0.01465	-3.178000	0.00113	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1343:0.3843:0.1202:0.3613	1.972	0.03200	494	0.76445	.;.	.	.	.	.	rs151229852	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020222	0.000000	0.020380	0.029240	0.050000	0.034483	0.027778	0.007576	0.05263	1092.83	39	chr17	4739332	.	C	G	1092.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=719;ExcessHet=0.119;FS=1.509;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.36;SOR=0.915	GT:AD:DP:GQ:PL	0/1:25,31:56:99:718,0,539	17	0	2	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,61:161:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:5502,3072,2754:4933876	3	10	5	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,100:161:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3705,0,483:4933876	1	11	5	2
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.02632	1587.33	34	chr17	6425710	.	C	A	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.265;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.225;SOR=0.661	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1601,0,1511	18	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,26:122:98:.:.:98,0,2742:.	6	0	9	4
chr17	7252986	7252986	A	G	exonic	ELP5	.	nonsynonymous SNV	ELP5:NM_203414:exon3:c.A224G:p.D75G,ELP5:NM_015362:exon4:c.A224G:p.D75G,ELP5:NM_203413:exon4:c.A224G:p.D75G,ELP5:NM_203415:exon4:c.A224G:p.D75G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00742102814908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190588423	3.42e-06	3.42e-06	2.722e-06	4.125e-06	3.478e-05	1e-06	7.3e-07	9.24e-06	4.56e-06	2.987e-05	0	0	0	1.872e-05	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29959	T	0.103	0.41913	T	0.0	0.09854	B	0.003	0.12133	B	0.559693	0.05418	N	1.219570	1	0.08975	N	1.265	0.31966	L	0.88	0.47477	T	-1.32	0.44471	N	0.147	0.14905	-0.9542	0.40238	T	0.101	0.37543	T	10	0.09835547	0.17778	T	0.007421	0.19685	T	0.024	0.04979	0.49	0.57573	0.218112801441	0.21410	0.191406789114482	0.19058	0.189962663849	0.21315	0.256172716618	0.04445	T	0.027465	0.37585	T	-0.313887	0.07411	T	-0.507125	0.21610	T	0.0408736577079611	0.03849	T	0.420658	0.16072	T	0.08976017	0.20983	0.15943678	0.37183	0.08976017	0.20982	0.15943678	0.37182	-3.788	0.20625	T	.	.	0.101	0.20078	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.150884	0.05432	1.904	0.93349636407567027	0.23083	0.03014	0.07887	N	AEFGBHCI	0.123131	0.23859	N	-1.03556437496287	0.07874	0.3672516	-1.11924997359468	0.07333	0.3562676	0.999998785055348	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.41	-2.68	0.05686	-0.329000	0.07978	-0.628000	0.08139	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.4733:0.0:0.5267:0.0	9.382	0.37478	538	0.73119	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2427.33	45	chr17	7252986	.	A	G	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.205;DP=902;ExcessHet=0;FS=2.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.152;SOR=0.494	GT:AD:DP:GQ:PL	0/1:70,95:165:99:2441,0,1761	18	0	1	0
chr17	7384513	7384513	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon7:c.C896A:p.A299D,TNK1:NM_003985:exon7:c.C896A:p.A299D	.	418	1062	39	3	0	45	0.0207469	.	.	.	3217119	TNK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.354	.	0.0066	0.00299521	0.0114	0.0023	0.0117	0	0.0014	0.0156	0.0215	0.0078	0.005912	914	154602	rs61730812	0.0083	0.0083	0.0084	0.0082	0.0250	0.0082	0.0081	0.0216	0.0203	0.0016	0.0067	0.0095	0	0.0006	0.0250	0.0094	0.0100	0.0036	0.0058	0.0058	0.0066	0.0051	0.0092	0.0055	0.0054	0.0086	0.0084	0.0018	0	0.0065	0.0072	0	0.0004	0.0408	0.0092	0.0142	0.0037	.	.	.	0.216	0.30143	T	0.853	0.48338	P	0.529	0.52771	P	0.028213	0.25637	N	0.280839	0.967537	0.38600	D	0.445	0.12748	N	-1.65	0.82625	D	.	.	.	0.451	0.55019	-0.3939	0.72219	T	0.246	0.61542	T	10	0.0139044225	0.00294	T	.	.	.	.	.	.	.	0.919329187289	0.91851	0.49443603386165175	0.49364	0.812905501583	0.66818	0.624475359917	0.56361	T	0.160806	0.50480	T	-0.29015	0.09621	T	-0.18245	0.56297	T	0.0225062001981507	0.00965	T	.	.	.	0.3468623	0.56822	0.3383932	0.59617	0.3468623	0.56822	0.3383932	0.59617	-7.8	0.59699	D	.	.	0.187	0.44847	B	.;.	.;.	4.194530	0.63243	24.6	0.99758617379124681	0.84851	0.77145	0.37899	D	AEFDGBHCI	0.501372	0.53423	D	-0.0255679916352551	0.40700	2.421557	-0.00384026937174498	0.39541	2.346067	0.999999999639966	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	5.0	4.03	0.46115	2.279000	0.43094	3.265000	0.37119	0.599000	0.40250	0.073000	0.22155	0.996000	0.32793	0.997000	0.79791	0.0:0.9126:0.0:0.0874	11.511	0.49744	192	0.92531	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	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	0.021277	0.025510	0.015027	0.032164	0.050000	0.034483	0.027607	0.000000	0.02632	241.33	34	chr17	7384513	.	C	A	241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.183;DP=658;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=0.02;SOR=0.361	GT:AD:DP:GQ:PL	0/1:23,10:33:99:255,0,659	18	0	1	0
chr17	7770612	7770612	A	G	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon26:c.A4154G:p.Y1385C	.	430	1077	15	0	0	15	0.00691563	.	.	.	2743779	not_provided|DNAH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.709	0.0443228516357	0.0041	0.00219649	0.0040	0.0013	0.0030	0	0.0026	0.0052	0.0022	0.0043	0.004062	628	154602	rs140035206	0.0051	0.0051	0.0051	0.0051	0.0088	0.0050	0.0050	0.0069	0.0062	0.0010	0.0043	0.0031	2.519e-05	0.0029	0.0088	0.0057	0.0051	0.0043	0.0043	0.0043	0.0042	0.0044	0.0089	0.0040	0.0039	0.0077	0.0072	0.0014	0	0.0089	0.0023	0.0002	0.0025	0.0034	0.0059	0.0019	0.0033	0.003	0.68238	D	.	.	.	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	4.02	0.96873	H	-0.15	0.65192	T	-7.77	0.95842	D	0.814	0.80964	0.338	0.88157	D	0.494	0.80791	T	10	0.036302477	0.01921	T	0.044323	0.61432	D	0.709	0.89605	.	.	0.655819544414	0.65294	0.8732973251996463	0.87295	1.06520644226	0.76608	0.698817670345	0.66973	T	0.628409	0.88451	D	-0.00270223	0.51281	T	0.227487	0.84546	D	0.0815492577165311	0.10185	T	0.947805	0.79866	D	0.9062806	0.91951	0.9286631	0.97003	0.9062806	0.91952	0.9286631	0.97003	-8.484	0.64323	D	.	.	0.261	0.49596	B	.;.	.;.	4.450265	0.69175	25.3	0.99840570559873654	0.92143	0.98284	0.81251	D	AEFGBI	0.801294	0.72704	D	0.961337048979557	0.94425	12.74769	0.878503994415669	0.94567	12.862	0.954006018860373	0.28106	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	7.052000	0.76345	9.355000	0.80329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.101	0.71944	234	0.90879	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.005051	0.006793	0.002924	0.000000	0.000000	0.006098	0.018939	0.02632	1804.33	33	chr17	7770612	.	A	G	1804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=811;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.384;SOR=0.504	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1818,0,2825	18	0	1	0
chr17	8827251	8827251	G	A	exonic	PIK3R6	.	nonsynonymous SNV	PIK3R6:NM_001010855:exon13:c.C1436T:p.T479M,PIK3R6:NM_001290211:exon13:c.C1028T:p.T343M	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0116100964927	.	0.000798722	0.0013	0	0.0004	0	0	4.204e-05	0	0.0062	0.0005239	81	154602	rs562238482	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	0	0	0	0	0	0.0005	1.825e-05	0.0003	0.0057	0.0002	0.0002	0.0001	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	0	0	0	0	0	0	0	0	0	0.0062	.	.	.	0.014	0.62352	D	0.98	0.59353	D	0.595	0.50587	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.39356	.	.	.	.	.	.	.	0.01156956	0.00252	T	0.01161	0.29407	T	.	.	.	.	0.432493127443	0.42867	0.33692688018618877	0.33605	.	.	0.330841034651	0.15061	T	0.265452	0.63731	T	-0.339382	0.05431	T	-0.258079	0.49015	T	.	.	.	0.79532	0.43818	T	0.10455087	0.24716	0.34483284	0.60174	0.10455087	0.24716	0.34483284	0.60174	-7.587	0.58220	D	.	.	0.090	0.12512	B	.;.	.;.	2.859334	0.37778	20.6	0.91961366668729405	0.21290	0.18894	0.20445	N	AEFDBHCI	0.161413	0.28747	N	.	.	.	.	.	.	0.887043051292394	0.25756	0.283894	0.04978	0	0.278934	0.05175	0	0.083675	0.02720	0	0.079188	0.02158	0	.	.	4.6	3.6	0.40374	1.320000	0.33272	4.629000	0.44108	0.671000	0.69459	0.003000	0.16062	0.939000	0.28734	0.266000	0.23669	0.0798:0.0:0.9202:0.0	13.391	0.60272	906	0.23090	.;.	.	.	.	.	.	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1015.33	34	chr17	8827251	.	G	A	1015.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=708;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.736;SOR=0.63	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1029,0,1112	18	0	1	0
chr17	10448639	10448639	G	A	exonic	MYH4	.	stopgain	MYH4:NM_017533:exon32:c.C4510T:p.R1504X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1025892606	8.21e-06	8.209e-06	4.084e-06	1.238e-05	6.957e-05	4.38e-06	3.46e-06	2.995e-05	2.038e-05	2.987e-05	0	0	0	0	0	4.497e-06	0	6.957e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005051	0.33144	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.3	0.33904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441293	0.92081	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.229081	0.97321	37	0.99547843788230272	0.70961	0.76099	0.37298	D	AEFBI	0.395326	0.47223	N	0.382762619406483	0.60488	4.238234	0.1773000882794	0.48606	3.074264	0.00203988232986488	0.09104	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	0.396	0.15532	-0.187000	0.09652	-1.713000	0.04864	0.676000	0.76740	0.708000	0.28703	0.000000	0.08366	0.999000	0.91618	0.0:0.0:0.2437:0.7563	16.622	0.84787	87	0.96348	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2226.33	35	chr17	10448639	.	G	A	2226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=834;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.621;SOR=0.625	GT:AD:DP:GQ:PL	0/1:121,90:211:99:2240,0,2951	18	0	1	0
chr17	11701161	11701161	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon24:c.G5065T:p.A1689S	.	416	1095	10	1	0	12	0.00544959	.	.	.	1227896	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.089	.	0.0002	0.0147764	0.0084	0	0.0003	0.0002	0	4.496e-05	0.0022	0.0611	0.0072509	1121	154602	rs201091936	0.0036	0.0036	0.0020	0.0052	0.0570	0.0035	0.0035	0.0556	0.0551	0.0002	8.944e-05	0	2.519e-05	0	0.0023	5.396e-05	0.0044	0.0570	0.0021	0.0021	0.0013	0.0029	0.0629	0.0019	0.0018	0.0570	0.0548	4.811e-05	0	6.536e-05	0	0.0006	0	0	7.35e-05	0.0005	0.0629	0.959	0.02228	T	.	.	.	0.008	0.14655	B	0.015	0.17295	B	0.000144	0.49130	D	0.139387	0.999103	0.46078	D	0.295	0.10161	N	0.15	0.60734	T	-0.04	0.12099	N	0.333	0.37405	-0.9683	0.37551	T	0.099	0.36882	T	10	0.004956037	0.00106	T	.	.	.	0.089	0.25827	.	.	0.537588199982	0.53409	0.06738874994068127	0.06676	0.0825246582377	0.09310	0.468261450529	0.34441	T	0.031753	0.22183	T	-0.506652	0.00524	T	-0.45729	0.26896	T	0.0390908571047116	0.03527	T	0.813919	0.46746	T	0.1098582	0.25971	0.14893608	0.35185	0.11694882	0.27578	0.14893608	0.35184	-4.334	0.28651	T	.	.	0.087	0.11269	B	.;.	.;.	2.772972	0.36401	20.2	0.40346286817581889	0.02841	0.93188	0.57555	D	AEFBI	0.544545	0.55942	D	-0.366044707527459	0.26686	1.458373	-0.131204742432006	0.34139	1.960473	0.930890544919251	0.27026	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	3.464000	0.52821	8.660000	0.77968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:1.0:0.0	19.819	0.96580	872	0.31118	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.030303	0.02632	597.33	33	chr17	11701161	.	G	T	597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=0.423;SOR=0.757	GT:AD:DP:GQ:PL	0/1:63,24:87:99:611,0,1622	18	0	1	0
chr17	28367878	28367898	ACGGCTGTGGCCTCGTTGTGA	-	exonic	VTN	.	nonframeshift deletion	VTN:NM_000638:exon7:c.1141_1161del:p.S381_R387del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1700.29	41	chr17	28367877	.	CACGGCTGTGGCCTCGTTGTGA	C	1700.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=1172;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.823;SOR=0.917	GT:AD:DP:GQ:PL	0/1:73,46:119:99:1714,0,2925	18	0	1	0
chr17	28717579	28717579	G	A	exonic	RAB34	.	nonsynonymous SNV	RAB34:NM_001256281:exon1:c.C130T:p.R44W	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923884271	1.579e-06	6.156e-06	0	3.266e-06	9.785e-07	2.6e-07	1e-07	.	.	0	0	0	0	0	0	9.785e-07	1.898e-05	0	6.57e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	-0.58	0.71425	T	-4.39	0.77225	D	.	.	.	.	.	.	.	.	.	0.3780832	0.53985	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012617	0.37522	T	.	.	.	.	.	.	.	.	.	0.673133	0.29821	T	.	.	.	.	.	.	.	.	-6.091	0.47035	T	.	.	0.172	0.41977	B	.;.;.;.	.;.;.;.	1.857750	0.23599	16.08	0.89863387017469598	0.19169	0.26541	0.23022	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999815281845	0.74766	0.142881	0.03202	1	0.073863	0.01883	0	0.158946	0.03948	1	0.143876	0.04018	0	0.10647	0.23113	4.34	1.03	0.19161	1.668000	0.37097	5.463000	0.48677	-0.114000	0.14653	0.999000	0.42656	1.000000	0.68203	0.050000	0.15192	0.1855:0.0:0.3933:0.4212	3.06	0.05822	137	0.94565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	845.33	37	chr17	28717579	.	G	A	845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-2.128;SOR=0.614	GT:AD:DP:GQ:PL	0/1:39,35:74:99:859,0,900	18	0	1	0
chr17	36254418	36254418	G	A	exonic	TBC1D3D;TBC1D3H;TBC1D3I	.	nonsynonymous SNV	TBC1D3H:NM_001123392:exon14:c.C1186T:p.R396W,TBC1D3I:NM_001291463:exon14:c.C1186T:p.R396W,TBC1D3D:NM_001291465:exon14:c.C1186T:p.R396W	.	472	1045	5	0	0	5	0.00238663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377294166	0.0052	0.0079	0.0053	0.0050	0.0248	0.0050	0.0050	0.0235	0.0229	0.0004	0.0009	0.0023	0.0248	0.0039	0.0018	0.0049	0.0059	0.0023	0.0041	0.0057	0.0041	0.0040	0.0287	0.0038	0.0036	0.0243	0.0227	0.0006	0.0084	0.0013	0.0028	0.0287	0.0060	0	0.0050	0.0062	0.0033	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.005789131	0.00129	T	.	.	.	.	.	.	.	.	.	0.06396651016620454	0.06335	.	.	.	.	.	0.065103	0.32604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.011	0.36959	T	.	.	0.093	0.13969	B	.	.	1.514077	0.19445	14.27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.383000	0.07456	-0.813000	0.07327	0.193000	0.17869	0.001000	0.13787	0.000000	0.08366	0.112000	0.18829	.	.	.	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	129.65	8	chr17	36254418	.	G	A	129.65	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.2;DP=284;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0603;MLEAC=2;MLEAF=0.056;MQ=25.32;MQRankSum=0.939;QD=3.6;ReadPosRankSum=1.76;SOR=0.12	GT:AD:DP:GQ:PL	0/1:15,5:20:97:97,0,358	16	0	2	1
chr17	36332786	36332786	G	-	exonic	TBC1D3G;TBC1D3H;TBC1D3L	.	frameshift deletion	TBC1D3L:NM_001369501:exon11:c.889delG:p.G297Afs*29,TBC1D3L:NM_001369499:exon12:c.1138delG:p.G380Afs*29,TBC1D3L:NM_001369500:exon12:c.955delG:p.G319Afs*29,TBC1D3H:NM_001123392:exon13:c.955delG:p.G319Afs*29,TBC1D3G:NM_001291462:exon13:c.955delG:p.G319Afs*29,TBC1D3L:NM_001369503:exon13:c.205delG:p.G69Afs*29	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400081912	0.0024	0.0085	0.0024	0.0023	0.0027	0.0022	0.0022	0.0024	0.0024	0.0008	0.0013	0.0016	0	0.0027	0.0006	0.0025	0.0022	0.0027	0.0015	0.0067	0.0015	0.0015	0.0022	0.0013	0.0012	0.0019	0.0017	0.0007	0	0.0006	0.0020	0	0.0017	0	0.0022	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	115.95	5	chr17	36332785	.	TG	T	115.95	.	AC=2;AF=0.071;AN=28;DP=101;ExcessHet=0;FS=0;InbreedingCoeff=0.6929;MLEAC=1;MLEAF=0.036;MQ=21.7;QD=31.95;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:36332780_A_T:135,9,0:36332780	13	1	0	5
chr17	36437941	36437941	T	G	exonic	TBC1D3F;TBC1D3K	.	nonsynonymous SNV	TBC1D3K:NM_001291464:exon2:c.A41C:p.E14A,TBC1D3F:NM_032258:exon2:c.A41C:p.E14A	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0144153293516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.849e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000199	0.48115	U	0.136304	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.2	0.22098	-0.8604	0.51234	T	0.230	0.59521	T	7	0.23035407	0.39984	T	0.014415	0.34525	T	.	.	0.475	0.55182	0.0716867268079	0.06686	0.10439902475737296	0.10369	.	.	.	.	.	.	.	.	-0.154996	0.27531	T	-0.460418	0.26554	T	0.904707014560699	0.55824	D	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.46132	B	.	.	1.295972	0.16976	12.88	0.97654959113081952	0.35160	0.01474	0.04912	N	AEFI	0.048803	0.08365	N	0.153386028143777	0.48973	3.102992	-0.119095045377407	0.34621	1.993523	7.69288211797132E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.641000	0.05531	-1.762000	0.04772	0.451000	0.21329	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	360.33	34	chr17	36437941	.	T	G	360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.393;DP=1618;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.28;MQRankSum=-4.43;QD=1.02;ReadPosRankSum=0.818;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,32:354:99:0|1:36437933_C_G:374,0,13424:36437933	18	0	1	0
chr17	36437943	36437943	T	G	exonic	TBC1D3F;TBC1D3K	.	nonsynonymous SNV	TBC1D3K:NM_001291464:exon2:c.A39C:p.Q13H,TBC1D3F:NM_032258:exon2:c.A39C:p.Q13H	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00558305755148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	0.034674	0.24740	U	0.359000	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.133	0.12913	-0.9607	0.39050	T	0.184	0.53209	T	7	0.21150455	0.37580	T	0.005583	0.14409	T	.	.	0.333	0.32005	0.0482279557977	0.04254	0.0385185198242166	0.03797	.	.	.	.	.	.	.	.	-0.18409	0.23129	T	-0.502209	0.22119	T	0.679637432098389	0.39771	D	0.754325	0.37688	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.54309	B	.	.	1.347465	0.17547	13.23	0.97380172613051019	0.33666	0.00405	0.02019	N	AEFI	0.061274	0.11703	N	-0.0107038131523379	0.41369	2.473303	-0.265005902846369	0.29260	1.637864	7.69288211797132E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-1.608000	0.02171	-3.605000	0.02663	-0.616000	0.04572	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	348.33	34	chr17	36437943	.	T	G	348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.248;DP=1622;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.36;MQRankSum=-4.498;QD=0.97;ReadPosRankSum=0.58;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:326,32:358:99:0|1:36437933_C_G:362,0,13592:36437933	18	0	1	0
chr17	36437944	36437944	T	G	exonic	TBC1D3F;TBC1D3K	.	nonsynonymous SNV	TBC1D3K:NM_001291464:exon2:c.A38C:p.Q13P,TBC1D3F:NM_032258:exon2:c.A38C:p.Q13P	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00446354477925	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411316538	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.673e-06	1.971e-05	1.305e-05	0	2.475e-05	0	0	.	.	2.475e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.049	0.48336	D	.	.	.	.	.	.	0.034674	0.24740	U	0.359000	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.311	0.35088	-0.9634	0.38527	T	0.178	0.52318	T	7	0.26923212	0.44447	T	0.004464	0.10937	T	.	.	0.548	0.66296	0.0762999501168	0.06990	0.12724698870855047	0.12650	.	.	.	.	.	.	.	.	-0.128291	0.31772	T	-0.422057	0.30840	T	0.679637432098389	0.39771	D	0.744825	0.36507	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.28807	B	.	.	1.495998	0.19239	14.16	0.97131878854793585	0.32503	0.01042	0.03892	N	AEFI	0.109026	0.21670	N	0.0393201626186608	0.43653	2.653999	-0.209792287984765	0.31184	1.762406	7.69288211797132E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.446000	0.06910	-4.303000	0.02228	-0.470000	0.05093	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	.	.	.	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	330.33	34	chr17	36437944	.	T	G	330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.047;DP=1628;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.47;MQRankSum=-4.594;QD=0.91;ReadPosRankSum=0.52;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,32:364:99:0|1:36437933_C_G:344,0,13844:36437933	18	0	1	0
chr17	36437948	36437955	CCCACCAA	-	exonic	TBC1D3F;TBC1D3K	.	frameshift deletion	TBC1D3K:NM_001291464:exon2:c.27_34del:p.W10Tfs*25,TBC1D3F:NM_032258:exon2:c.27_34del:p.W10Tfs*25	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.712e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	256.29	34	chr17	36437947	.	GCCCACCAA	G	256.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.704;DP=1657;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.34;MQRankSum=-4.506;QD=0.66;ReadPosRankSum=0.44;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,32:389:99:0|1:36437933_C_G:270,0,14894:36437933	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:58,76:134:99:911,0,849	1	0	18	0
chr17	41084538	41084538	G	0	exonic	KRTAP4-7;LOC100996750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	399.12	17	chr17	41084538	.	G	*	399.12	.	AC=1;AF=0.038;AN=26;BaseQRankSum=3.41;DP=1823;ExcessHet=0.1336;FS=0;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.038;MQ=58.07;MQRankSum=-6.776;QD=1.56;ReadPosRankSum=-1.867;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,46:121:99:.:.:1526,0,2551:.	12	0	1	6
chr17	41084544	41084544	G	0	exonic	KRTAP4-7;LOC100996750	.	.	.	.	487	882	17	18	118	171	0.029169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	9420.03	111	chr17	41084544	.	G	*	9420.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.221;DP=2142;ExcessHet=0.0015;FS=2.5;InbreedingCoeff=0.6042;MLEAC=1;MLEAF=0.026;MQ=56.98;MQRankSum=0.711;QD=19.63;ReadPosRankSum=-2.541;SOR=0.89	GT:AD:DP:GQ:PL	0/1:75,46:121:99:1526,0,2551	18	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	293.7	37	chr17	41382308	.	A	G	293.7	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.883;DP=1756;ExcessHet=0.7564;FS=118.901;InbreedingCoeff=-0.1222;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.236;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,21:148:28:0|1:41382308_A_G:28,0,5030:41382308	15	0	4	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	438.61	37	chr17	41382311	.	C	G	438.61	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-6.381;DP=1894;ExcessHet=0.7564;FS=117.824;InbreedingCoeff=-0.1166;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.649;SOR=10.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,24:148:99:0|1:41382308_A_G:208,0,3369:41382308	15	0	4	0
chr17	42544215	42544215	C	T	exonic	NAGLU	.	nonsynonymous SNV	NAGLU:NM_000263:exon6:c.C2209T:p.R737C	Mucopolysaccharidosis type IIIB (Sanfilippo B), Autosomal recessive	8	17	207	1190	100	2687	0.987028	.	.	.	1462319	Charcot-Marie-Tooth_disease_axonal_type_2V|Mucopolysaccharidosis,_MPS-III-B	MONDO:MONDO:0014665,MedGen:C5569050,OMIM:616491,Orphanet:447964|MONDO:MONDO:0009656,MedGen:C0086648,OMIM:252920,Orphanet:79270	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.296886188119	.	.	8.309e-06	9.792e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs86312	2.742e-06	4.788e-06	4.093e-06	1.378e-06	4.472e-05	6.4e-07	4.3e-07	7.41e-06	2.77e-06	2.987e-05	4.472e-05	0	0	0	0	8.993e-07	0	0	6.574e-06	6.562e-06	1.286e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.01	0.65728	D	0.997	0.70673	D	0.549	0.49194	P	0.597366	0.10991	N	0.830326	0.333925	0.33098	P	1.87	0.49600	L	-5.44	0.99100	D	-1.36	0.33798	N	0.305	0.34444	0.924	0.96017	D	0.901	0.96731	D	9	0.6490395	0.69495	D	0.296886	0.90752	D	0.391	0.70684	0.427	0.47350	0.953663521557	0.95317	0.31525420517128233	0.31438	1.01211776729	0.74815	0.238694518805	0.02674	T	0.300227	0.67272	T	-0.0124821	0.49918	T	-0.0735593	0.65372	T	0.344124466180801	0.26787	T	0.784922	0.42251	T	0.13808258	0.31948	0.065592915	0.13315	0.13808258	0.31948	0.065592915	0.13314	-7.216	0.55596	T	.	.	0.165	0.36315	B	.	.	3.531579	0.49552	22.8	0.99872143743057429	0.94989	0.71982	0.35251	D	AEFDBCI	.	.	.	0.169955149449898	0.49759	3.172835	0.163957695393902	0.47887	3.012209	0.999802051256058	0.43304	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.01	4.01	0.45821	0.635000	0.24318	1.526000	0.27126	-0.176000	0.10722	0.342000	0.25692	0.541000	0.25415	0.111000	0.18785	0.2135:0.7864:0.0:0.0	9.337	0.37220	196	0.92420	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	37861.9	70	chr17	42544215	.	C	T	37861.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.287;DP=1501;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=26.89;ReadPosRankSum=-2.453;SOR=0.848	GT:AD:DP:GQ:PL	0/1:0,54:95:99:2584,1057,895	18	0	1	0
chr17	43021953	43021953	C	T	exonic	VAT1	.	nonsynonymous SNV	VAT1:NM_006373:exon1:c.G370A:p.G124R	.	372	1142	8	0	0	8	0.0034904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	.	0.00259585	0.0019	0.0001	0	0	0	1.698e-05	0.0039	0.0128	0.0014553	225	154602	rs377221508	0.0008	0.0008	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	0	0	0	0.0001	0	0.0009	8.995e-06	0.0010	0.0119	0.0004	0.0004	0.0003	0.0006	0.0130	0.0004	0.0003	0.0105	0.0095	0	0	0.0001	0	0	0	0	0	0.0014	0.0130	0.026	0.46910	D	0.355	0.29540	T	0.454	0.36182	P	0.515	0.48040	P	0.000072	0.52346	D	0.168530	0.999559	0.81001	D	2.635	0.77114	M	0.84	0.47477	T	-3.06	0.63090	D	0.374	0.41557	-0.7591	0.57455	T	0.173	0.51595	T	10	0.010383159	0.00231	T	.	.	.	0.228	0.52768	0.808	0.92512	0.810640954071	0.80886	0.7867270252943331	0.78624	1.39135005619	0.85010	0.649019122124	0.59847	T	0.127768	0.45501	T	-0.399491	0.02333	T	-0.337222	0.40658	T	0.155232468014804	0.17512	T	0.973903	0.97165	D	0.5365815	0.69204	0.30586016	0.56612	0.5365815	0.69205	0.30586016	0.56611	-10.056	0.74246	D	.	.	0.492	0.66936	A	.;.	.;.	5.350841	0.89758	31	0.99793479443052047	0.87928	0.90065	0.50955	D	AEFDGBHCI	0.904877	0.85571	D	0.255777186668135	0.53924	3.559522	0.296689116216302	0.55345	3.697736	1.0	0.98316	0.733237	0.96898	0	0.748881	0.99253	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.84	3.84	0.43422	6.754000	0.74705	5.719000	0.49462	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	15.528	0.75659	348	0.85549	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	842.33	33	chr17	43021953	.	C	T	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.332;DP=705;ExcessHet=0;FS=0.927;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.958;SOR=0.501	GT:AD:DP:GQ:PL	0/1:35,33:68:99:856,0,911	18	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1071	431.39	47	chr17	43209576	.	C	T	431.39	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.417;DP=821;ExcessHet=0.3672;FS=184.512;InbreedingCoeff=-0.1723;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.944;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,20:69:99:.:.:158,0,821:.	11	0	3	5
chr17	45445602	45445602	T	A	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_014798:exon9:c.A2705T:p.Q902L	Osteopetrosis, autosomal recessive 6	0	1498	22	2	0	26	0.00860357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0749909675046	.	0.000399361	0.0009	0	0	0	0	0.0002	0	0.0056	0.0006856	106	154602	rs202150970	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0055	0.0054	2.988e-05	0.0001	0	0	0	0.0026	0.0001	0.0004	0.0059	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	0	0	0.0003	0	0	0	0.0034	0.0001	0	0.0041	0.012	0.54683	D	0.162	0.31225	T	0.393	0.34680	B	0.167	0.35118	B	0.006550	0.31955	N	0.303860	0.921527	0.36692	D	0.74	0.18910	N	-0.16	0.65378	T	-3.97	0.73684	D	0.457	0.49420	-0.8326	0.53133	T	0.136	0.45164	T	10	0.008028686	0.00182	T	0.074991	0.72178	D	0.193	0.47281	.	.	0.58541143898	0.58214	0.47933704477401223	0.47853	1.12430380814	0.78398	0.40170788765	0.25306	T	0.286848	0.65963	T	-0.347536	0.04883	T	-0.270069	0.47812	T	0.0756488155978868	0.09422	T	.	.	.	0.28866607	0.51868	0.30442202	0.56471	0.25537038	0.48571	0.26456544	0.52277	-6.071	0.46869	T	.	.	0.171	0.37633	B	.	.	3.909595	0.57010	23.8	0.98840135051041955	0.47102	0.92204	0.55177	D	AEFGBI	0.572506	0.57606	D	-0.0028271487652555	0.41727	2.501141	0.112093294982156	0.45165	2.784664	0.999970400608632	0.50053	0.489673	0.17934	0	0.653731	0.59785	0	0.566861	0.19136	0	0.662433	0.64102	0	.	.	4.59	4.59	0.56297	3.551000	0.53445	7.828000	0.70003	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.1954:0.8046	8.549	0.32601	368	0.84463	Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002870	0.000000	0.002740	0.000000	0.000000	0.000000	0.000000	0.008197	0.02632	897.33	36	chr17	45445602	.	T	A	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.86;MQRankSum=-1.373;QD=10.56;ReadPosRankSum=0.076;SOR=0.766	GT:AD:DP:GQ:PL	0/1:51,34:85:99:911,0,1369	18	0	1	0
chr17	46875355	46875355	G	A	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon3:c.G589A:p.V197M,WNT9B:NM_003396:exon3:c.G589A:p.V197M	.	295	1224	3	0	0	3	0.00122399	.	.	.	1628798	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.587	0.052177547358	7.7e-05	0.000199681	0.0005	0	0.0006	0	0	0.0003	0.0014	0.0026	0.0003622	56	154602	rs201480547	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0016	0.0015	9.011e-05	0.0003	0.0008	5.06e-05	0	0.0021	0.0001	0.0002	0.0018	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0	0	0.0003	0.0014	0.0002	0	0	0.0002	0	0.0023	0.029	0.49117	D	0.095	0.43159	T	0.175	0.28858	B	0.086	0.29521	B	0.000197	0.48115	N	0.181086	0.99918	0.46274	D	3.49	0.92661	M	-1.29	0.79475	T	-1.24	0.37759	N	0.426	0.46555	0.083	0.83862	D	0.524	0.82268	D	10	0.03969276	0.02479	T	0.052178	0.64964	D	0.587	0.83471	.	.	0.757679668421	0.75547	0.7402259738620808	0.73967	0.420632235292	0.42585	0.660517096519	0.61484	T	0.676627	0.90459	D	-0.270055	0.11751	T	-0.167168	0.57702	T	0.144324589906969	0.16642	T	.	.	.	0.13315296	0.30979	0.22140723	0.46950	0.13315296	0.30979	0.22140723	0.46949	-9.859	0.73063	D	.	.	0.273	0.51558	B	.;.	.;.	3.951165	0.57888	23.9	0.99534394668015191	0.70087	0.94656	0.61882	D	AEFGBI	0.335827	0.43414	N	0.173411533742735	0.49925	3.187688	0.215981455854735	0.50733	3.262325	0.0449646145576772	0.14633	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.91	2.79	0.31792	5.898000	0.69576	4.864000	0.45499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.1645:0.0:0.8355:0.0	11.959	0.52287	447	0.79583	.;.	.	.	.	.	.	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	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.02632	941.33	34	chr17	46875355	.	G	A	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.338;DP=708;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.433;SOR=1.091	GT:AD:DP:GQ:PL	0/1:32,33:65:99:955,0,894	18	0	1	0
chr17	56374714	56374714	G	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon7:c.G919T:p.V307L,ANKFN1:NM_001365758:exon8:c.G706T:p.V236L,ANKFN1:NM_001370326:exon8:c.G910T:p.V304L	.	.	.	.	.	.	.	.	1.0000	0.962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1382125558	1.376e-06	1.368e-06	1.37e-06	1.382e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	1.873e-05	0	0	1.662e-05	0	6.573e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.422e-05	0	0	0	0	0.008	0.58626	D	0.0	0.92824	D	0.489	0.36925	P	0.389	0.44119	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	-0.07	0.63738	T	-2.46	0.53736	N	0.773	0.82257	-0.3241	0.74307	T	0.355	0.71766	T	10	0.44382563	0.58269	T	0.06968	0.70796	D	0.362	0.68230	0.591	0.71999	0.869409262667	0.86814	0.43263015768963686	0.43180	0.456354093494	0.45290	0.61296916008	0.54736	T	0.29114	0.66390	T	0.204099	0.74275	D	0.055398	0.73939	D	0.982486009597778	0.74519	D	0.959504	0.88094	D	0.5243622	0.68509	0.48344833	0.70094	0.5243622	0.68511	0.48344833	0.70095	-7.862	0.60126	D	.	.	0.622	0.74114	P	.;.;.	.;.;.	7.033669	0.96059	35	0.99783285171336078	0.86955	0.99005	0.89843	D	AEFDBI	0.927765	0.91095	D	0.609630630075023	0.73783	6.022869	0.673907163333509	0.80402	7.290896	0.999972134649524	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.51	5.51	0.81769	9.071000	0.93394	11.853000	0.98135	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.781	0.96411	372	0.84213	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	33	chr17	56374714	.	G	T	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.726;DP=743;ExcessHet=0;FS=53.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.364;SOR=6.226	GT:AD:DP:GQ:PL	0/1:89,23:112:49:49,0,2270	18	0	1	0
chr17	57849279	57849279	G	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.C176A:p.P59H	.	432	1064	24	2	0	28	0.012987	.	.	.	1521760	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0007	0.00678914	0.0066	0.0003	0.0013	0.0002	0.0006	0.0009	0.0088	0.0432	0.0056468	873	154602	rs138577447	0.0032	0.0032	0.0020	0.0045	0.0428	0.0031	0.0031	0.0417	0.0412	0.0003	0.0013	0.0001	0.0001	0.0007	0.0050	0.0006	0.0036	0.0428	0.0018	0.0018	0.0011	0.0026	0.0404	0.0016	0.0016	0.0358	0.0340	0.0002	0	0.0007	0	0.0002	0.0004	0	0.0007	0.0033	0.0404	0.072	0.34982	T	0.12	0.37589	T	0.53	0.37698	P	0.34	0.42389	B	0.003934	0.00993	N	2.515440	1	0.08975	N	2.14	0.59869	M	.	.	.	-3.22	0.64939	D	0.226	0.26233	-0.8943	0.48549	T	0.124	0.42715	T	9	0.0032068193	0.00054	T	.	.	.	0.074	0.21613	.	.	0.177238962908	0.17366	0.40213195719202327	0.40129	0.205357618407	0.22955	0.246498137712	0.03408	T	0.202903	0.56122	T	-0.56619	0.00233	T	-0.553934	0.16949	T	0.0441978682095403	0.04457	T	0.30107	0.05662	T	0.14598365	0.33438	0.14489195	0.34383	0.122028075	0.28682	0.14489195	0.34382	-4.749	0.33991	T	.	.	0.093	0.14015	B	.;.	.;.	1.153333	0.15417	11.83	0.98240022129641202	0.39476	0.03693	0.08968	N	AEFDGBHCI	0.046271	0.07664	N	-0.581543404306759	0.19506	1.021385	-0.734924336193929	0.16093	0.8497054	0.999999999997814	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	-5.03	0.02751	-0.567000	0.06007	-1.492000	0.05317	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.947000	0.49155	0.2879:0.0:0.1395:0.5726	5.718	0.17242	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.001359	0.008772	0.000000	0.000000	0.006098	0.030303	0.02632	1305.33	34	chr17	57849279	.	G	T	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=765;ExcessHet=0;FS=4.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=1.37;SOR=1.017	GT:AD:DP:GQ:PL	0/1:78,50:128:99:1319,0,1933	18	0	1	0
chr17	59878174	59878174	T	A	exonic	TUBD1	.	nonsynonymous SNV	TUBD1:NM_001193613:exon2:c.A50T:p.H17L,TUBD1:NM_001193609:exon5:c.A698T:p.H233L,TUBD1:NM_001193610:exon5:c.A698T:p.H233L,TUBD1:NM_001193611:exon5:c.A698T:p.H233L,TUBD1:NM_016261:exon5:c.A698T:p.H233L,TUBD1:NM_001193612:exon6:c.A341T:p.H114L	.	426	1095	1	0	0	1	0.000456413	.	.	.	2369624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.393	0.105242471092	.	.	9.06e-05	0	0	0	0	5.994e-05	0.0011	0.0004	7.12e-05	11	154602	rs767904487	8.345e-05	8.345e-05	6.67e-05	0.0001	0.0007	7.136e-05	6.684e-05	0.0003	0.0003	0	6.708e-05	7.653e-05	0	0	0.0007	6.475e-05	6.623e-05	0.0004	7.222e-05	7.218e-05	7.71e-05	6.712e-05	0.0002	3.968e-05	3.125e-05	2.846e-05	1.858e-05	2.405e-05	0	0.0001	0	0	0	0	7.349e-05	0.0009	0.0002	0.008	0.68238	D	0.163	0.69154	T	0.215	0.51791	B	0.065	0.54588	B	0.000000	0.84330	D	0.088856	1	0.81001	D	2.865	0.83145	M	-0.21	0.66294	T	-8.28	0.96946	D	0.792	0.78832	-0.3764	0.72764	T	0.365	0.72605	T	10	0.7579179	0.76123	D	0.105242	0.78026	D	0.393	0.70844	.	.	0.875190313375	0.87397	0.7338942863234376	0.73334	0.384505594684	0.39751	0.561965942383	0.47545	T	0.228442	0.59400	T	-0.0142071	0.49674	T	0.0523345	0.73738	D	0.89497834444046	0.54645	D	0.922608	0.71859	D	0.76437616	0.81712	0.71131265	0.82969	0.76437616	0.81714	0.71131265	0.82970	-3.365	0.14589	T	.	.	0.153	0.44042	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.817768	0.55106	23.6	0.97489375375313136	0.34235	0.92955	0.56960	D	AEFDGBCI	0.797606	0.72440	D	0.283949601708467	0.55332	3.697575	0.367789768555179	0.59586	4.137748	0.604826238857554	0.21756	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.69	5.69	0.88346	5.909000	0.69661	7.872000	0.72015	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.943	0.79564	498	0.76166	.;Tubulin/FtsZ, GTPase domain;.;.;.;Tubulin/FtsZ, GTPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1745.33	36	chr17	59878174	.	T	A	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.973;DP=779;ExcessHet=0;FS=5.014;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.228;SOR=1.018	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1759,0,1873	18	0	1	0
chr17	61968034	61968034	C	A	splicing	MED13	NM_005121:exon18:c.4191+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456739	0.92777	D	0.418298	0.92688	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.387992	0.95128	34	0.99434305550024649	0.64423	0.99019	0.90044	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	691.29	68	chr17	61968034	.	C	A	691.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:30,12:52:41:41,0,411	14	0	5	0
chr17	63964507	63964507	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon9:c.G1413A:p.M471I	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	1	1503	17	1	0	19	0.00628099	.	.	.	339683	Congenital_myasthenic_syndrome_16|Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|not_provided|Paramyotonia_congenita_of_Von_Eulenburg	MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MedGen:C3661900|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.458	0.20939919042	.	0.000798722	0.0007	0	0	0	0	0.0003	0.0011	0.0039	0.0005886	91	154602	rs527384137	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0003	0.0032	0.0029	0	2.236e-05	0.0005	0	1.873e-05	0.0045	7.825e-05	0.0005	0.0034	0.0001	0.0002	7.706e-05	0.0002	0.0029	9.733e-05	8.249e-05	0.0018	0.0014	0	0	0	0.0006	0	0	0.0034	5.879e-05	0.0005	0.0029	0.101	0.30375	T	0.341	0.17964	T	0.889	0.48869	P	0.341	0.42432	B	0.000025	0.55875	D	0.157058	0.558257	0.32191	D	0.72	0.18721	N	-3.84	0.95826	D	-1.61	0.38734	N	0.292	0.33030	0.548	0.91205	D	0.727	0.90665	D	10	0.012795389	0.00274	T	0.209399	0.87197	D	0.458	0.75619	0.477	0.55502	0.813402561589	0.81164	0.3318528599119761	0.33098	0.27892697211	0.30372	0.485950410366	0.36878	T	0.374278	0.73811	T	-0.171903	0.24946	T	-0.0211762	0.68951	D	0.100660812212562	0.12430	T	0.940956	0.77922	D	0.46488395	0.64975	0.49076197	0.70540	0.46488395	0.64975	0.49076197	0.70540	-6.067	0.46836	T	0.09103757524593284	0.05734	0.627	0.69995	P	.	.	3.252728	0.44454	21.9	0.98419421969431442	0.41266	0.84311	0.43393	D	AEFDGBI	0.292559	0.40340	N	0.215408235574135	0.51946	3.372059	0.279162730105717	0.54324	3.59776	0.0505720881189988	0.14844	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	1.695000	0.37381	4.034000	0.41364	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1606:0.6615:0.1779:0.0	8.495	0.32282	795	0.45444	.	.	.	.	.	.	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	0.003021	0.000000	0.002717	0.002924	0.050000	0.000000	0.000000	0.007576	0.02632	1406.33	33	chr17	63964507	.	C	T	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.744;DP=745;ExcessHet=0;FS=1.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-1.209;SOR=0.913	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1420,0,1245	18	0	1	0
chr17	66053863	66053863	G	C	exonic	CEP112	.	nonsynonymous SNV	CEP112:NM_001302891:exon10:c.C965G:p.A322G,CEP112:NM_001353128:exon10:c.C965G:p.A322G,CEP112:NM_001199165:exon12:c.C1091G:p.A364G,CEP112:NM_001353127:exon12:c.C1091G:p.A364G,CEP112:NM_001353129:exon12:c.C1094G:p.A365G	.	477	1027	18	0	0	18	0.00868726	.	.	.	2808221	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.236	0.0217798691528	0.0060	0.00299521	0.0056	0.0014	0.0061	0	0.0056	0.0080	0.0033	0.0010	0.0056079	867	154602	rs146009782	0.0069	0.0069	0.0070	0.0068	0.0129	0.0068	0.0068	0.0106	0.0097	0.0013	0.0070	0.0019	0	0.0065	0.0129	0.0079	0.0068	0.0015	0.0057	0.0057	0.0056	0.0058	0.0099	0.0054	0.0053	0.0086	0.0082	0.0015	0	0.0099	0.0055	0	0.0071	0.0204	0.0078	0.0076	0.0014	0.013	0.53900	D	0.031	0.59159	D	0.999	0.77913	D	0.972	0.72692	D	0.000001	0.62929	D	0.055397	0.999768	0.81001	D	2.125	0.59049	M	0.53	0.55090	T	-2.63	0.56466	D	0.346	0.45237	-0.5079	0.68363	T	0.277	0.64835	T	10	0.0069506466	0.00158	T	0.02178	0.44594	T	0.236	0.53931	.	.	0.471052466308	0.46733	0.13976758570052136	0.13899	0.444578749256	0.44359	0.517616271973	0.41291	T	0.300982	0.67345	T	-0.321225	0.06798	T	-0.224799	0.52274	T	0.00988335349574117	0.00131	T	0.948405	0.80130	D	0.50300413	0.67271	0.5428762	0.73579	0.50300413	0.67272	0.5428762	0.73579	-11.832	0.84023	D	.	.	0.319	0.56198	B	.;.;.;.	.;.;.;.	5.327992	0.89421	30	0.99805542343574727	0.88995	0.98772	0.86654	D	AEFBI	0.882493	0.81064	D	0.870498040417164	0.90241	10.31556	0.864633476596704	0.93842	12.31815	0.999999977312744	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.59	5.59	0.84677	8.829000	0.91674	9.630000	0.81124	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.965	0.97263	702	0.57624	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015106	0.000000	0.028533	0.017544	0.100000	0.008621	0.009146	0.007576	0.05263	3462.81	33	chr17	66053863	.	G	C	3462.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.11;SOR=0.984	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3490,345,0	18	1	0	0
chr17	69043591	69043591	G	T	exonic	ABCA9	.	nonsynonymous SNV	ABCA9:NM_080283:exon6:c.C698A:p.S233Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0424895101074	.	.	2.489e-05	0	0	0	0	1.506e-05	0	0.0001	1.94e-05	3	154602	rs781430409	3.149e-05	3.147e-05	3.133e-05	3.165e-05	0.0003	2.414e-05	2.159e-05	0.0002	0.0002	0	0	0	5.042e-05	0	0	1.26e-05	4.971e-05	0.0003	1.314e-05	1.313e-05	2.57e-05	0	2.407e-05	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0	0.632	0.05121	T	0.677	0.92824	T	0.022	0.18677	B	0.085	0.29395	B	0.000450	0.44317	D	0.000000	0.685451	0.34048	D	1.435	0.35949	L	-2.25	0.87272	D	-1.61	0.38734	N	0.556	0.63628	-0.4103	0.71701	T	0.440	0.77859	T	10	0.5225413	0.62725	D	0.04249	0.60489	D	0.426	0.73372	0.669	0.80703	0.862739897216	0.86140	0.4363375542747453	0.43550	0.155294145454	0.17530	0.446879476309	0.31518	T	0.335721	0.70531	T	-0.119015	0.33286	T	-0.172065	0.57253	T	0.13708521425724	0.16021	T	0.79512	0.48674	T	0.17376791	0.38143	0.23353285	0.48544	0.17376791	0.38142	0.23353285	0.48543	-11.576	0.82724	D	.	.	0.331	0.55299	B	.;.;.	.;.;.	1.746793	0.22223	15.53	0.65081713724649459	0.07672	0.61826	0.31598	D	AEFBHCI	0.218734	0.34370	N	-0.249018648269419	0.31142	1.743329	-0.0821626511353655	0.36128	2.098573	0.176018238470101	0.17805	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.73	4.73	0.59485	1.081000	0.30402	1.220000	0.24969	0.656000	0.54149	0.997000	0.40164	0.725000	0.26378	0.897000	0.43391	0.0:0.184:0.816:0.0	11.312	0.48608	954	0.10045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1497.33	37	chr17	69043591	.	G	T	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.194;DP=754;ExcessHet=0;FS=1.45;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.02;SOR=0.519	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1511,0,1628	18	0	1	0
chr17	74237346	74237346	G	A	exonic	TTYH2	.	nonsynonymous SNV	TTYH2:NM_001330453:exon4:c.G404A:p.R135Q,TTYH2:NM_032646:exon4:c.G467A:p.R156Q	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0107601053783	0.0007	0.000599042	0.0014	9.625e-05	0.0003	0	0.0002	0.0006	0.0033	0.0073	0.0011707	181	154602	rs146838126	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	5.974e-05	0.0004	7.652e-05	0	1.873e-05	0.0047	0.0005	0.0010	0.0070	0.0005	0.0005	0.0004	0.0007	0.0054	0.0004	0.0004	0.0038	0.0032	0.0001	0	0.0004	0	0.0002	0	0.0034	0.0005	0.0005	0.0054	0.443	0.09182	T	0.165	0.33330	T	0.95	0.70673	P	0.595	0.64797	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.825	0.47900	L	2.79	0.11189	T	-0.63	0.18459	N	0.323	0.36884	-1.1804	0.00364	T	0.067	0.27502	T	10	0.015330344	0.00322	T	0.01076	0.27663	T	0.175	0.44197	.	.	0.18274738541	0.17906	0.5602875507672628	0.55955	0.175573129607	0.19762	0.39073485136	0.23773	T	0.038885	0.36818	T	-0.304911	0.08204	T	-0.206894	0.53992	T	0.0681554750203357	0.08390	T	0.943306	0.78595	D	0.21390936	0.43783	0.2031201	0.44373	0.21390936	0.43783	0.2031201	0.44372	-3.629	0.18277	T	.	.	0.091	0.15296	B	.;.	.;.	4.211319	0.63621	24.6	0.99942855451748114	0.99848	0.97006	0.72147	D	AEFDGI	0.746015	0.68852	D	0.580847877510304	0.71982	5.734214	0.61186407467257	0.75802	6.37513	0.999999999373119	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.616094	0.41390	0	0.620846	0.47308	0	.	.	5.52	5.52	0.82153	5.273000	0.65375	7.113000	0.57572	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.061	0.93075	738	0.53389	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.003788	0.02632	1542.33	38	chr17	74237346	.	G	A	1542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=973;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.072;SOR=0.588	GT:AD:DP:GQ:PL	0/1:36,56:92:99:1556,0,730	18	0	1	0
chr17	75020979	75020979	A	G	exonic	MRPL58	.	nonsynonymous SNV	MRPL58:NM_001303265:exon6:c.A590G:p.D197G,MRPL58:NM_001545:exon6:c.A595G:p.T199A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00475090332717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.02274	T	0.936	0.02725	T	0.002	0.09854	B	0.003	0.08700	B	0.066840	0.21783	N	0.517413	0.998247	0.22270	N	-0.87	0.01450	N	2.03	0.20959	T	-0.03	0.07444	N	0.042	0.01498	-0.9506	0.40868	T	0.012	0.04605	T	10	0.03351757	0.01530	T	0.004751	0.11847	T	0.036	0.09122	0.211	0.12923	0.0716867268079	0.06686	0.0973089801218698	0.09661	0.296684357204	0.32054	0.280563622713	0.07570	T	0.007484	0.06883	T	-0.347962	0.04856	T	-0.7376	0.03992	T	0.0871684551239014	0.10879	T	0.612239	0.23293	T	0.03965504	0.05514	0.025769083	0.00635	0.03965504	0.05514	0.025769083	0.00635	-2.837	0.08529	T	.	.	0.068	0.02894	B	.	.	2.093931	0.26636	17.19	0.15015560317173091	0.00352	0.70302	0.34535	D	AEFBIJ	0.152793	0.27754	N	-0.984572516134452	0.08933	0.4207622	-0.802942691752075	0.14425	0.7535935	9.45402726235957E-5	0.04910	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.24	0.424	0.15684	1.207000	0.31938	1.707000	0.28170	0.756000	0.94297	0.998000	0.41325	0.405000	0.24731	0.951000	0.49849	0.414:0.2115:0.3745:0.0	5.556	0.16405	964	0.07719	Peptide chain release factor class I/class II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1573.33	33	chr17	75020979	.	A	G	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.215;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.205;SOR=0.639	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1587,0,1851	18	0	1	0
chr17	75610907	75610907	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon22:c.G4280A:p.R1427H	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0087	0	0	0	0	0	0	4.53e-05	7	154602	rs559390057	8.534e-05	7.475e-05	0.0001	7.043e-05	0.0010	6.572e-05	5.889e-05	0.0006	0.0005	0.0010	0.0003	0	0	2.972e-05	0	4.417e-05	0.0002	1.593e-05	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0003	0.0013	0.0012	0.0016	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.004292935	0.00086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008655	0.07935	T	.	.	.	.	.	.	.	.	.	0.189081	0.04066	T	0.021770375	0.00797	0.03817859	0.03631	0.021770375	0.00797	0.03817859	0.03631	-4.076	0.24935	T	.	.	0.063	0.02861	B	.;.;.	.;.;.	0.507802	0.08767	5.543	0.55828302139088937	0.05424	0.00828	0.03334	N	AEFDGBHCI	0.031439	0.03364	N	.	.	.	.	.	.	0.999999999998719	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.42	-0.745	0.10538	-0.556000	0.06082	-2.192000	0.04078	-0.655000	0.04372	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.3763:0.189:0.4347:0.0	5.421	0.15699	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	892.33	34	chr17	75610907	.	G	A	892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.653;DP=691;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.389;SOR=0.815	GT:AD:DP:GQ:PL	0/1:35,37:72:99:906,0,893	18	0	1	0
chr17	75625594	75625594	C	G	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon60:c.C8758G:p.L2920V	.	410	1091	21	0	0	21	0.00953246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	.	.	0.000998403	0.0028	0	0	0	0	0.0025	0	0.0034	0.0003234	50	154602	rs564022563	0.0012	0.0011	0.0011	0.0013	0.0071	0.0011	0.0011	0.0051	0.0044	0	0.0006	0.0055	0	0	0.0071	0.0009	0.0019	0.0026	0.0006	0.0006	0.0004	0.0007	0.0023	0.0005	0.0004	0.0013	0.0010	0.0001	0	0.0011	0.0026	0	0	0.0068	0.0006	0.0019	0.0023	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.294	0.33250	-0.6477	0.62814	T	0.423	0.76737	T	8	0.003847152	0.00073	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028546	0.20653	T	.	.	.	.	.	.	.	.	.	0.694731	0.30434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19276	B	.;.	.;.	1.149868	0.15376	11.81	0.99084931350454142	0.52051	0.05948	0.11905	N	AEFDGBCI	.	.	.	-0.38507930557464	0.26000	1.415667	-0.570569366133307	0.20262	1.090843	0.999759720509196	0.42595	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.567892	0.33627	0	0.121126	0.24771	4.9	1.54	0.22290	0.161000	0.16298	-0.189000	0.11056	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.6112:0.167:0.2218	5.242	0.14797	976	0.04745	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	750.33	38	chr17	75625594	.	C	G	750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.722;DP=722;ExcessHet=0;FS=3.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.165;SOR=0.832	GT:AD:DP:GQ:PL	0/1:31,32:63:99:764,0,817	18	0	1	0
chr17	75904698	75904698	G	C	exonic	MRPL38	.	nonsynonymous SNV	MRPL38:NM_032478:exon2:c.C89G:p.P30R	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0208824014659	0.0008	.	0.0010	0	0.0004	0	0	0.0018	0	8.886e-05	0.0006792	105	154602	rs369217975	0.0006	0.0006	0.0006	0.0007	0.0019	0.0006	0.0006	0.0011	0.0008	3.029e-05	0.0006	0.0227	0	0	0.0019	0.0002	0.0019	0.0001	0.0007	0.0007	0.0008	0.0006	0.0003	0.0006	0.0006	0.0002	0.0002	9.664e-05	0	0.0002	0.0219	0	0	0	0.0003	0.0024	0	0.049	0.39820	D	0.053	0.47336	T	0.09	0.25173	B	0.063	0.27082	B	0.110183	0.19452	U	0.318405	0.999999	0.29502	N	1.78	0.46185	L	1.49	0.31470	T	-0.41	0.14000	N	0.176	0.18920	-1.0366	0.18357	T	0.060	0.24945	T	10	0.004417509	0.00090	T	0.020882	0.43558	T	0.074	0.21613	.	.	0.49676076625	0.49313	0.46620314099118343	0.46539	0.294017301875	0.31822	0.52874571085	0.42857	T	0.004455	0.03857	T	-0.441721	0.01263	T	-0.546337	0.17678	T	0.0757209172975347	0.09431	T	0.816718	0.47282	T	0.1472127	0.33663	0.13370344	0.32056	0.1472127	0.33663	0.13370344	0.32055	-2.14	0.03759	T	.	.	0.099	0.16843	B	.	.	3.576286	0.50395	22.9	0.99558450776290286	0.71583	0.75814	0.37140	D	AEFDGBCIJ	0.649341	0.62383	D	-0.352202132177032	0.27191	1.489882	-0.305262275379607	0.27929	1.553294	0.999999999933663	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.43	3.41	0.38145	6.040000	0.70618	8.418000	0.77142	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.442000	0.27716	0.0752:0.0:0.7796:0.1453	9.289	0.36936	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.003817	0.02632	573.33	56	chr17	75904698	.	G	C	573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.92;SOR=0.577	GT:AD:DP:GQ:PL	0/1:31,26:57:99:587,0,775	18	0	1	0
chr17	76007149	76007149	C	T	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G6122A:p.R2041H,EVPL:NM_001988:exon22:c.G6056A:p.R2019H	.	.	.	.	.	.	.	.	.	.	.	3954662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.0148507174411	.	.	9.317e-06	0	8.828e-05	0	0	0	0	0	6.5e-06	1	154602	rs767348774	5.943e-06	1.437e-05	4.356e-06	7.606e-06	7.809e-05	2.56e-06	1.85e-06	2.07e-05	1.074e-05	3.329e-05	3.478e-05	0	7.809e-05	0	0	9.484e-07	0	2.925e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.257	0.36365	T	0.004	0.12183	B	0.001	0.04355	B	0.014234	0.28595	N	0.278558	0.999983	0.18612	N	1.1	0.28011	L	-0.75	0.73311	T	-1.17	0.29933	N	0.09	0.16028	-1.0595	0.11880	T	0.087	0.33606	T	10	0.071079314	0.10429	T	0.014851	0.35231	T	0.023	0.04649	0.367	0.37524	0.662269450481	0.65943	0.3374269890737583	0.33655	0.232953537669	0.25832	0.246266901493	0.03385	T	0.07645	0.47967	T	-0.203361	0.20320	T	-0.529891	0.19298	T	0.121238775551319	0.14551	T	0.746125	0.37284	T	0.04009889	0.05660	0.035238687	0.02738	0.04009889	0.05660	0.035238687	0.02738	-4.311	0.28330	T	.	.	0.093	0.14201	B	.;.;.	.;.;.	1.857872	0.23599	16.08	0.9922332990210625	0.55963	0.36021	0.25437	N	AEFDGBI	0.111183	0.22021	N	-0.563732088145495	0.20055	1.054411	-0.404133413705217	0.24875	1.364693	0.715535767799482	0.22870	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.48	0.99	0.18926	0.173000	0.16538	-0.442000	0.09154	0.599000	0.40250	0.937000	0.32526	0.020000	0.20764	0.954000	0.50415	0.1587:0.3983:0.0:0.443	3.965	0.08921	705	0.57330	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	526.33	34	chr17	76007149	.	C	T	526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.296;DP=721;ExcessHet=0;FS=4.157;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.291;SOR=0.307	GT:AD:DP:GQ:PL	0/1:32,22:54:99:540,0,931	18	0	1	0
chr17	76010322	76010322	C	G	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G2949C:p.E983D,EVPL:NM_001988:exon22:c.G2883C:p.E961D	.	401	1104	16	1	0	18	0.00808625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0306489969412	0.0029	0.00279553	0.0045	0.0004	0.0014	0	0.0003	0.0055	0.0055	0.0093	0.0041397	640	154602	rs148533039	0.0038	0.0038	0.0036	0.0041	0.0121	0.0038	0.0037	0.0099	0.0090	0.0006	0.0015	0.0589	0	0.0002	0.0121	0.0024	0.0076	0.0093	0.0030	0.0030	0.0032	0.0027	0.0075	0.0027	0.0026	0.0055	0.0049	0.0005	0	0.0014	0.0527	0	0.0002	0.0136	0.0025	0.0047	0.0075	0.01	0.56456	D	0.026	0.55759	D	0.979	0.59044	D	0.604	0.50922	P	0.000065	0.52346	D	0.127911	0.51691	0.31601	N	2.83	0.82355	M	-0.11	0.64630	T	-2.03	0.46673	N	0.402	0.46180	-0.3992	0.72052	T	0.205	0.56362	T	10	0.004966855	0.00106	T	0.030649	0.52913	D	0.161	0.41658	0.117	0.02508	0.663968203398	0.66114	0.2623366917122307	0.26146	0.705443509024	0.61392	0.369297981262	0.20731	T	0.242154	0.61083	T	-0.375163	0.03341	T	-0.305275	0.44164	T	0.0653555037325935	0.07983	T	0.722728	0.33613	T	0.32339334	0.54925	0.34764948	0.60416	0.32339334	0.54925	0.34764948	0.60415	-6.028	0.46514	T	.	.	0.248	0.49693	B	.;.	.;.	3.331203	0.45857	22.2	0.99704804404606828	0.80867	0.90146	0.51096	D	AEFBI	0.615866	0.60265	D	0.279037752638346	0.55087	3.673053	0.239856434455143	0.52075	3.384824	0.469864391691247	0.20698	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.66	2.57	0.29928	1.225000	0.32154	1.089000	0.23963	0.583000	0.30283	1.000000	0.71638	0.471000	0.25053	0.987000	0.62547	0.0:0.767:0.0:0.233	10.756	0.45438	707	0.57054	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.012228	0.014620	0.000000	0.008621	0.000000	0.003788	0.02632	1296.33	34	chr17	76010322	.	C	G	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=767;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.279;SOR=0.59	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1310,0,1260	18	0	1	0
chr17	76872805	76872805	C	T	exonic	MGAT5B	.	nonsynonymous SNV	MGAT5B:NM_198955:exon1:c.C56T:p.T19M	.	410	1085	27	0	0	27	0.0122895	.	.	.	2808430	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.0889855898824	0.0059	0.00159744	0.0046	0.0019	0.0037	0	0.0021	0.0066	0.0073	0.0019	0.0043014	665	154602	rs191831149	0.0052	0.0052	0.0052	0.0052	0.0092	0.0051	0.0051	0.0072	0.0065	0.0016	0.0027	0.0233	2.519e-05	0.0022	0.0092	0.0055	0.0061	0.0020	0.0043	0.0043	0.0050	0.0035	0.0062	0.0040	0.0039	0.0057	0.0055	0.0015	0.0055	0.0011	0.0256	0	0.0024	0.0170	0.0062	0.0057	0.0017	0.01	0.56456	D	0.025	0.56192	D	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.18198	N	.	.	.	0.91	0.44856	T	-0.11	0.08653	N	0.078	0.05287	-1.0316	0.19937	T	0.036	0.15509	T	9	0.0034640431	0.00061	T	0.088986	0.75240	D	0.012	0.01476	.	.	0.0762999501168	0.06990	0.27722707716982	0.27635	0.348775011373	0.36740	.	.	.	.	.	.	-0.699134	0.00037	T	-0.773029	0.02670	T	0.00700139624634681	0.00080	T	0.425557	0.11413	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.179	0.38941	B	.	.	0.268398	0.06464	2.937	0.9569627691559579	0.27582	0.00731	0.03065	N	ALL	0.027653	0.02297	N	-1.28791693912018	0.03820	0.1713302	-1.33540545033923	0.03980	0.1868265	0.999999999904632	0.74766	0.517182	0.21443	0	0.578056	0.33634	0	0.478664	0.07449	1	0.648885	0.59868	0	.	.	3.46	-1.48	0.08286	-0.100000	0.10959	.	.	-0.847000	0.02749	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5778:0.0:0.4222	7.368	0.25959	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	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	0.008056	0.005102	0.010870	0.005848	0.000000	0.008621	0.015244	0.003788	0.02632	1552.33	33	chr17	76872805	.	C	T	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.55;DP=726;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-1.129;SOR=0.591	GT:AD:DP:GQ:PL	0/1:42,60:102:99:1566,0,1039	18	0	1	0
chr17	78419597	78419597	G	A	exonic	PGS1	.	nonsynonymous SNV	PGS1:NM_024419:exon9:c.G1603A:p.E535K	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00853110917165	.	.	1.658e-05	0	0	0	0	1.5e-05	0	6.062e-05	1.29e-05	2	154602	rs779345585	1.095e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.993e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.422	0.14034	T	0.052	0.22494	B	0.003	0.08700	B	0.000197	0.48115	D	0.140596	0.998876	0.45601	D	0.715	0.18665	N	.	.	.	-1.11	0.28703	N	0.18	0.19459	-1.0308	0.20195	T	0.128	0.43564	T	9	0.12888795	0.24520	T	0.008531	0.22557	T	0.056	0.15993	0.362	0.36711	0.331619326243	0.32766	0.5436117093784022	0.54287	0.499014157662	0.48355	0.490827441216	0.37553	T	0.035791	0.23854	T	-0.139155	0.30024	T	-0.437663	0.29070	T	0.308600988179466	0.25357	T	0.890911	0.62511	D	0.10717162	0.25341	0.10018584	0.23946	0.10717162	0.25341	0.10018584	0.23945	-5.357	0.40504	T	.	.	0.093	0.13830	B	.	.	2.715618	0.35508	19.92	0.99415282876326128	0.63501	0.95001	0.63078	D	AEFBI	0.211744	0.33750	N	-0.386216317333919	0.25960	1.413153	-0.234997507572481	0.30291	1.704286	0.998219778544661	0.36589	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	3.54	0.39650	2.056000	0.40981	4.261000	0.42805	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.3934:0.6066:0.0	15.578	0.76151	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	.	.	.	.	.	.	.	.	0.02632	1778.33	36	chr17	78419597	.	G	A	1778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.664;DP=751;ExcessHet=0;FS=0.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=1.39;SOR=0.596	GT:AD:DP:GQ:PL	0/1:42,71:113:99:1792,0,903	18	0	1	0
chr17	81442340	81442340	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon5:c.G991A:p.G331R,BAHCC1:NM_001377448:exon5:c.G991A:p.G331R	.	396	1103	21	2	0	25	0.0112057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0035	0.00419329	0.0177	0.0083	0.0312	0	0	0.0201	0	0.0182	0.0033635	520	154602	rs200635626	0.0073	0.0068	0.0068	0.0076	0.0121	0.0071	0.0070	0.0114	0.0111	0.0012	0.0051	0.0033	3.16e-05	0.0011	0.0055	0.0087	0.0059	0.0121	0.0054	0.0054	0.0058	0.0049	0.0120	0.0051	0.0050	0.0095	0.0087	0.0015	0.0033	0.0054	0.0043	0.0002	0.0011	0	0.0084	0.0090	0.0120	0.011	0.55530	D	0.283	0.21478	T	0.804	0.45171	P	0.084	0.29270	B	.	.	.	.	0.999999	0.08975	N	2.3	0.65703	M	2.79	0.11189	T	-2.2	0.49519	N	0.455	0.56058	-1.0086	0.27354	T	0.016	0.06473	T	9	0.006036341	0.00136	T	.	.	.	0.048	0.13305	0.12	0.02719	0.0806252709748	0.07271	0.12245195582152993	0.12172	0.502331297958	0.48594	0.842930495739	0.88540	D	0.230255	0.59628	T	-0.491739	0.00636	T	-0.468737	0.25653	T	0.0146539307956324	0.00303	T	0.80392	0.45897	T	0.07046136	0.15523	0.14767307	0.34938	0.07046136	0.15523	0.14767307	0.34937	-3.643	0.18481	T	.	.	0.327	0.55011	B	.;.	.;.	4.551593	0.71641	25.7	0.99801142503588558	0.88550	0.06367	0.12368	N	AEFBI	0.063739	0.12337	N	-0.398987019648809	0.25505	1.385015	-0.436542158329562	0.23934	1.30782	0.0064609846732517	0.11222	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	4.23	1.86	0.24489	1.691000	0.37340	8.301000	0.76932	0.585000	0.30472	0.756000	0.29198	1.000000	0.68203	0.489000	0.28769	0.1289:0.4504:0.4206:0.0	5.753	0.17426	.	.	.;.	RP13-516M14.10	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	2290.79	70	chr17	81442340	.	G	A	2290.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.44;DP=949;ExcessHet=0.3672;FS=0.559;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.412;SOR=0.784	GT:AD:DP:GQ:PL	0/1:26,37:63:99:1121,0,604	16	0	3	0
chr17	81720332	81720332	G	A	exonic	SLC25A10	.	nonsynonymous SNV	SLC25A10:NM_001270953:exon11:c.G1036A:p.A346T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893317324	8.638e-06	1.163e-05	4.564e-06	1.298e-05	0.0003	4.64e-06	3.39e-06	4.12e-06	2.99e-06	0	0	0	0	0	0.0003	8.761e-06	1.893e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	.	.	.	0.116	0.36497	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	0.11711529	0.22111	T	.	.	.	.	.	.	.	0.481764910267	0.47805	0.0031318224286800193	0.00292	.	.	.	.	.	.	.	.	-0.248478	0.14285	T	-0.594698	0.13261	T	.	.	.	0.266473	0.04381	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10256	B	.	.	-0.065647	0.03851	0.830	0.47311129091255383	0.03858	0.01368	0.04673	N	AEFBI	.	.	.	.	.	.	.	.	.	0.995489698822728	0.34152	0.256867	0.04430	0	0.271743	0.05004	0	0.295636	0.05589	0	0.24566	0.04862	0	0.0510867	0.10242	3.36	-6.72	0.01591	-2.184000	0.01338	-2.365000	0.03846	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3159:0.3284:0.3556:0.0	6.786	0.22858	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1560.33	38	chr17	81720332	.	G	A	1560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=817;ExcessHet=0;FS=8.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=1.46;SOR=0.239	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1574,0,1043	18	0	1	0
chr18	2724932	2724932	A	C	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.A2637C:p.K879N	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	.	.	.	.	.	.	.	.	.	.	267503	not_provided|Facioscapulohumeral_muscular_dystrophy_2	MedGen:C3661900|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901,Orphanet:269	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.00531876733118	.	.	0.0001	0	0	0	0	0	0	0.0007	5.82e-05	9	154602	rs633422	3.898e-05	4.037e-05	2.073e-05	5.748e-05	0.0006	3.078e-05	2.766e-05	0.0005	0.0004	0	0	0	0	0	0.0002	9.12e-07	3.376e-05	0.0006	3.289e-05	3.281e-05	1.287e-05	5.383e-05	0.0010	1.262e-05	7.99e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.345	0.12511	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	0.000539	0.43581	D	0.228496	0.276525	0.33642	P	1.175	0.29870	L	1.8	0.25344	T	-0.65	0.18877	N	0.04	0.01347	-1.0525	0.13709	T	0.036	0.15509	T	9	0.041606873	0.02831	T	0.005319	0.13618	T	0.099	0.28413	0.106	0.01810	0.0675242888579	0.06100	0.37198345834357094	0.37112	0.248810487176	0.27447	0.414233386517	0.27043	T	0.085981	0.37623	T	-0.507906	0.00516	T	-0.628956	0.10493	T	0.0463770604687509	0.04851	T	0.534647	0.17878	T	0.06948444	0.15226	0.0511201	0.08164	0.06948444	0.15226	0.0511201	0.08164	-4.438	0.30069	T	0.18329944462572986	0.23723	0.203	0.42834	B	.	.	1.836233	0.23329	15.98	0.967477743169877	0.30950	0.84628	0.43712	D	AEFDBI	0.181352	0.30867	N	-0.379396799260766	0.26205	1.428355	-0.209034211198701	0.31209	1.764199	0.996412870538092	0.34729	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	3.1	0.34780	1.035000	0.29824	2.940000	0.35661	0.665000	0.62972	0.992000	0.37556	1.000000	0.68203	0.999000	0.91618	0.7265:0.0:0.1505:0.123	5.757	0.17445	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	10749.7	99	chr18	2724932	.	A	C	10749.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.417;DP=1138;ExcessHet=2.8258;FS=1.77;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.618;SOR=0.821	GT:AD:DP:GQ:PL	0/1:35,42:77:99:985,0,831	18	0	1	0
chr18	2920363	2920363	C	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon20:c.G2621T:p.C874F,LPIN2:NM_001375809:exon20:c.G2621T:p.C874F,LPIN2:NM_014646:exon20:c.G2621T:p.C874F	Majeed syndrome	0	1481	39	2	0	43	0.0143095	.	.	.	232039	LPIN2-related_disorder|not_provided|Majeed_syndrome|Autoinflammatory_syndrome	.|MedGen:C3661900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0242335918851	0.0002	0.00179712	0.0015	9.701e-05	0.0002	0	0	0.0004	0.0022	0.0088	0.0012807	198	154602	rs201160155	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0002	0.0002	2.519e-05	0	0.0057	0.0003	0.0011	0.0092	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.533e-05	0	0	0	0.0034	0.0003	0.0005	0.0087	0.205	0.20002	T	0.71	0.05525	T	0.011	0.15914	B	0.015	0.17295	B	0.000167	0.48594	D	0.270733	0.999983	0.54805	D	2.12	0.58754	M	-1.41	0.80560	T	-6.6	0.92042	D	0.258	0.29197	-0.4306	0.71047	T	0.384	0.74002	T	10	0.008627355	0.00195	T	0.024234	0.47226	T	0.362	0.68230	.	.	0.416204396243	0.41236	0.8197850407621243	0.81935	0.360878218772	0.37748	0.71268081665	0.68982	T	0.325968	0.69663	T	-0.283188	0.10333	T	-0.172875	0.57180	T	0.0576534892228963	0.06794	T	0.89551	0.63622	D	0.47934437	0.65860	0.48347694	0.70096	0.47934437	0.65861	0.48347694	0.70096	-8.199	0.62419	D	0.09303421256937064	0.06075	0.101	0.17657	B	.	.	3.219975	0.43869	21.8	0.90758231324376637	0.20008	0.91134	0.52927	D	AEFDGBCI	0.578082	0.57943	D	0.0216641723337433	0.42839	2.588929	0.191777639853672	0.49395	3.143227	0.999999985977376	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	4.74	0.59717	1.656000	0.36971	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9287:0.0:0.0713	14.305	0.65932	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.05263	2032.83	37	chr18	2920363	.	C	A	2032.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.286;DP=810;ExcessHet=0.119;FS=1.214;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.946;SOR=0.821	GT:AD:DP:GQ:PL	0/1:42,34:76:99:867,0,1148	17	0	2	0
chr18	2937701	2937701	T	C	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.A1159G:p.K387E,LPIN2:NM_001375809:exon7:c.A1159G:p.K387E,LPIN2:NM_014646:exon7:c.A1159G:p.K387E	Majeed syndrome	0	1479	38	5	0	48	0.0159681	.	.	.	103705	not_specified|Majeed_syndrome|not_provided|Psoriasis|Autoinflammatory_syndrome	MedGen:CN169374|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MedGen:C3661900|MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.525	.	0.0006	0.00678914	0.0043	0.0001	0.0009	0	0	0.0012	0.0056	0.0257	0.003771	583	154602	rs104895501	0.0023	0.0023	0.0016	0.0031	0.0260	0.0023	0.0022	0.0251	0.0247	0.0003	0.0013	0.0002	5.038e-05	9.37e-05	0.0095	0.0008	0.0025	0.0260	0.0017	0.0017	0.0012	0.0023	0.0295	0.0016	0.0015	0.0255	0.0240	0.0001	0	0.0016	0.0003	0	9.423e-05	0.0034	0.0012	0.0033	0.0295	0.106	0.29688	T	0.365	0.16717	T	0.469	0.36524	P	0.169	0.35248	B	0.000000	0.84330	D	0.042032	0.999997	0.58761	D	2.455	0.71248	M	-1.46	0.80983	T	-2.09	0.47683	N	0.513	0.54409	-0.3239	0.74313	T	0.429	0.77147	T	10	0.008249849	0.00187	T	.	.	.	0.525	0.79886	.	.	0.655422639558	0.65255	0.4558067673782812	0.45498	0.476885664701	0.46806	0.49358445406	0.37935	T	0.096917	0.39921	T	-0.00843234	0.50486	T	0.234708	0.84894	D	0.0146289846892014	0.00302	T	0.927307	0.73215	D	0.23034674	0.45788	0.22966772	0.48045	0.23515597	0.46347	0.27323538	0.53240	-5.471	0.41596	T	0.3718643203656596	0.46728	0.601	0.68900	P	.	.	3.146632	0.42582	21.6	0.99700605470064441	0.80591	0.99098	0.91196	D	AEFBI	0.605472	0.59617	D	0.21220550750028	0.51791	3.357567	0.319439671550726	0.56681	3.831987	0.999999995646822	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.225000	0.65124	6.120000	0.53774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	14.621	0.68184	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	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	0.008560	0.000000	0.005435	0.008772	0.000000	0.017241	0.006098	0.034091	0.02632	537.33	33	chr18	2937701	.	T	C	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.212;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.166;SOR=0.772	GT:AD:DP:GQ:PL	0/1:27,21:48:99:551,0,738	18	0	1	0
chr18	6965342	6965342	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.C7141T:p.R2381C	Poretti-Boltshauser syndrome, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	704663	not_provided|LAMA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.479	0.0417537146561	0.0012	0.00279553	0.0024	0.0004	0.0009	0	0	0.0023	0.0044	0.0075	0.0024838	384	154602	rs142063208	0.0028	0.0028	0.0026	0.0030	0.0082	0.0027	0.0027	0.0077	0.0075	0.0005	0.0010	7.652e-05	5.038e-05	0.0004	0.0033	0.0028	0.0023	0.0082	0.0017	0.0017	0.0017	0.0016	0.0070	0.0015	0.0015	0.0052	0.0045	0.0006	0	0.0020	0	0.0002	0.0005	0	0.0023	0.0024	0.0070	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.958	0.70027	D	0.000251	0.46924	D	0.144445	0.999987	0.54805	D	3.235	0.89610	M	-1.08	0.77078	T	-5.51	0.85921	D	0.734	0.73465	0.264	0.86976	D	0.603	0.85894	D	10	0.016408682	0.00346	T	0.041754	0.60099	D	0.479	0.77012	.	.	0.895094079211	0.89405	0.5673563880096925	0.56663	0.61600168912	0.56077	0.489292055368	0.37339	T	0.531587	0.83800	D	-0.115198	0.33911	T	0.067018	0.74711	D	0.128730265391643	0.15264	T	0.854814	0.54193	D	0.34251603	0.56479	0.45183823	0.68109	0.28303096	0.51337	0.4219648	0.66113	-11.508	0.82372	D	0.7391288558217808	0.82112	0.306	0.53495	B	.	.	5.264119	0.88388	29.6	0.99940578074191	0.99767	0.94786	0.62325	D	AEFBI	0.765320	0.70184	D	0.859237228385765	0.89628	10.05011	0.83897627390301	0.92355	11.37934	0.999998149110575	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	4.366000	0.59265	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.879	0.99870	865	0.32612	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.007576	0.05263	3045.83	33	chr18	6965342	.	G	A	3045.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.01;DP=897;ExcessHet=0.119;FS=1.949;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.317;SOR=0.814	GT:AD:DP:GQ:PL	0/1:91,56:147:99:1362,0,2207	17	0	2	0
chr18	7037642	7037642	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.C1673T:p.A558V	Poretti-Boltshauser syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	727799	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00297339597076	0.0045	0.00179712	0.0037	0.0020	0.0020	0	0.0008	0.0058	0.0022	0.0006	0.0040814	631	154602	rs143997842	0.0060	0.0060	0.0062	0.0059	0.0073	0.0059	0.0059	0.0072	0.0071	0.0017	0.0021	0.0012	0	0.0023	0.0009	0.0073	0.0056	0.0008	0.0034	0.0034	0.0039	0.0029	0.0058	0.0032	0.0031	0.0053	0.0051	0.0019	0	0.0012	0.0017	0	0.0008	0	0.0058	0.0028	0.0015	0.263	0.16412	T	0.285	0.21343	T	0.004	0.12183	B	0.002	0.06944	B	0.678899	0.06080	N	1.187530	1	0.08975	N	0.6	0.15550	N	2.18	0.18875	T	-1.2	0.30555	N	0.06	0.03175	-0.9808	0.34817	T	0.011	0.04274	T	10	0.0038349926	0.00072	T	0.002973	0.06339	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.2621892590172665	0.26131	0.107730605471	0.12152	0.244025737047	0.03165	T	0.046069	0.27314	T	-0.698991	0.00037	T	-0.770289	0.02758	T	0.0013587098851226	0.00014	T	0.485151	0.14792	T	0.019163352	0.00443	0.040829208	0.04502	0.019163352	0.00442	0.040829208	0.04502	-2.921	0.09355	T	.	.	0.072	0.04396	B	.	.	-0.032086	0.04066	0.946	0.94307563734160238	0.24622	0.04224	0.09741	N	AEFBI	0.062944	0.12132	N	-1.28727501896598	0.03828	0.1716946	-1.34773399438146	0.03833	0.1795877	0.999996033034349	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.53	-6.03	0.02001	-1.850000	0.01763	-1.961000	0.04429	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.383:0.0:0.2252:0.3918	5.922	0.18327	900	0.24599	Laminin IV	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2086.33	36	chr18	7037642	.	G	A	2086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.759;DP=823;ExcessHet=0;FS=4.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.371;SOR=0.429	GT:AD:DP:GQ:PL	0/1:72,83:155:99:2100,0,1846	18	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,158:453:99:.:.:13666,7907,10377:.	6	3	10	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	374.99	54	chr18	12814235	.	C	T	374.99	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.272;DP=672;ExcessHet=1.3;FS=210.157;InbreedingCoeff=-0.2243;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=1.3;SOR=9.066	GT:AD:DP:GQ:PL	0/1:27,12:41:52:52,0,407	13	0	5	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	5491.12	187	chr18	14513679	.	T	G	5491.12	.	AC=10;AF=0.294;AN=34;BaseQRankSum=3.02;DP=4174;ExcessHet=6.9875;FS=11.886;InbreedingCoeff=-0.4081;MLEAC=11;MLEAF=0.324;MQ=50.93;MQRankSum=-9.351;QD=2.03;ReadPosRankSum=-3.085;SOR=1.891	GT:AD:DP:GQ:PL	0/1:241,30:271:99:163,0,6331	7	0	10	2
chr18	22992898	22992898	A	C	exonic	RBBP8	.	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1071C:p.K357N,RBBP8:NM_203291:exon11:c.A1071C:p.K357N,RBBP8:NM_203292:exon11:c.A1071C:p.K357N	Jawad syndrome, Autosomal recessive;Pancreatic carcinoma, somatic (3);Seckel syndrome 2, Autosomal recessive	3	1508	11	0	0	11	0.00363396	.	.	YES	135548	RBBP8-related_disorder|not_provided|not_specified	MedGen:CN239300|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0055	0.0129792	0.0050	0.0192	0.0007	0.0002	0	1.5e-05	0.0011	0.0242	0.0036115	94	26028	rs34678569	0.0021	0.0021	0.0015	0.0027	0.0251	0.0020	0.0020	0.0242	0.0238	0.0189	0.0006	0	0.0003	0	0.0019	1.799e-05	0.0030	0.0251	0.0059	0.0059	0.0057	0.0060	0.0282	0.0055	0.0054	0.0244	0.0229	0.0174	0	0.0013	0	0.0006	0	0	5.881e-05	0.0024	0.0282	0.696	0.04757	T	0.635	0.07666	T	0.0	0.02946	B	0.0	0.01387	B	0.134587	0.02836	N	1.534940	1	0.08975	N	.	.	.	1.61	0.29085	T	0.54	0.02945	N	0.105	0.08925	-1.0528	0.13628	T	0.011	0.04134	T	10	0.002441287	0.00036	T	.	.	.	0.017	0.02790	0.087	0.00904	0.0401082797425	0.02173	0.05475330252128637	0.05416	0.0496606491298	0.05445	0.251399040222	0.03916	T	0.07004	0.33862	T	-0.700595	0.00036	T	-0.760208	0.03105	T	0.000271268835331335	0.00002	T	0.574243	0.20591	T	0.040315	0.05732	0.024667751	0.00490	0.032101203	0.03173	0.030937659	0.01615	-3.812	0.22753	T	0.0673271331133879	0.02361	0.073	0.11558	B	.;.;.;.;.	.;.;.;.;.	-0.753977	0.01202	0.059	0.40272377519639602	0.02832	0.01775	0.05566	N	AEFBI	0.027729	0.02318	N	-1.51109643797217	0.01776	0.07781704	-1.44407365419076	0.02824	0.1306185	0.657394187114821	0.22232	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	6.17	-1.79	0.07504	-0.728000	0.05029	-1.445000	0.05423	-0.601000	0.04613	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.4437:0.168:0.0844:0.3039	1.732	0.02757	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.015152	0.02632	1774.33	34	chr18	22992898	.	A	C	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.651;DP=747;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-1.076;SOR=0.804	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1788,0,1430	18	0	1	0
chr18	26548290	26548290	C	G	exonic	KCTD1	.	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.G247C:p.G83R	Scalp-ear-nipple syndrome, Autosomal dominant	323	1197	1	1	0	3	0.00125156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	.	0.00159744	0.0057	0	0.0059	0	0	0	0	0.0094	0.0005369	83	154602	rs545784375	0.0005	0.0005	0.0002	0.0008	0.0092	0.0005	0.0005	0.0087	0.0084	0	0	0	0	0	0	4.696e-06	0.0002	0.0092	0.0002	0.0002	5.166e-05	0.0004	0.0073	0.0002	0.0001	0.0054	0.0047	0	0	0	0	0	0	0	0	0	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.0340	0.81546	T	0.507	0.81459	D	6	0.008348703	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892121136189	0.95522	D	.	.	.	.	.	.	.	.	.	.	.	.	0.627137	0.24302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.51174	B	.	.	3.599367	0.50833	23.0	0.97963071130795842	0.37195	0.80235	0.39927	D	AEFDGBHCI	0.356875	0.44810	N	0.192668431217009	0.50847	3.270885	0.209860941243071	0.50393	3.231898	0.999999999985865	0.74766	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.492483	0.08430	1	.	.	3.46	3.46	0.38718	1.076000	0.30340	7.270000	0.57987	0.456000	0.21511	0.969000	0.34210	1.000000	0.68203	0.997000	0.79791	0.0:0.8862:0.0:0.1138	8.864	0.34434	932	0.16191	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	456.33	33	chr18	26548290	.	C	G	456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.399;DP=672;ExcessHet=0;FS=7.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.076;SOR=1.279	GT:AD:DP:GQ:PL	0/1:17,20:37:99:470,0,455	18	0	1	0
chr18	31326880	31326880	G	A	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon3:c.G91A:p.D31N	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0367903997544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.984e-05	1.984e-05	2.451e-05	1.513e-05	2.609e-05	1.392e-05	1.204e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.609e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.288	0.21144	T	0.94	0.52768	P	0.601	0.50808	P	0.000483	0.43931	D	0.098320	0.995224	0.42597	D	2.075	0.57047	M	0.34	0.58176	T	-1.24	0.31375	N	0.229	0.25745	-0.8561	0.51541	T	0.213	0.57428	T	10	0.4420376	0.58162	T	0.03679	0.57211	D	0.228	0.52768	0.733	0.86633	0.624900152263	0.62184	0.655875413230874	0.65523	0.408834429351	0.41713	0.480736613274	0.36158	T	0.073191	0.34638	T	-0.177053	0.24176	T	-0.492101	0.23171	T	0.990165293216705	0.80380	D	0.838916	0.51225	T	0.1434232	0.32964	0.14409958	0.34223	0.1434232	0.32964	0.14409958	0.34222	-3.047	0.10696	T	0.2282430933462252	0.30865	0.188	0.40506	B	.	.	4.875873	0.79927	27.2	0.9990717569211347	0.97726	0.96137	0.67702	D	AEFBI	0.663907	0.63326	D	0.486088557004513	0.66276	4.929436	0.527119655193985	0.69822	5.415414	0.999985805557164	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.988000	0.75982	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.457	0.94890	409	0.82198	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1552.33	33	chr18	31326880	.	G	A	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.214;DP=750;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.978;SOR=0.496	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1566,0,1302	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:32,23:55:99:158,0,424	2	0	16	1
chr18	32213276	32213276	G	A	exonic	MEP1B	.	stopgain	MEP1B:NM_001308171:exon11:c.G1296A:p.W432X,MEP1B:NM_005925:exon11:c.G1296A:p.W432X	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2e-05	.	0.0001	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs199912683	0.0001	0.0001	0.0001	0.0001	0.0005	9.941e-05	9.349e-05	0.0001	9.97e-05	2.987e-05	2.236e-05	0	0	0	0.0005	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.09e-05	5.747e-05	7.296e-05	5.089e-05	7.221e-05	0	0	0	0	0	0.0102	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.304	0.37509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444577	0.92236	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.305593	0.99686	46	0.99733008458778205	0.82904	0.99347	0.94827	D	AEFI	0.373356	0.45866	N	0.987547811739389	0.95348	13.53538	0.880639360897756	0.94672	12.94783	0.999999999998066	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	9.602000	0.97623	11.882000	0.98861	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	20.101	0.97871	830	0.39242	MATH/TRAF domain|MATH/TRAF domain;MATH/TRAF domain|MATH/TRAF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2921.33	35	chr18	32213276	.	G	A	2921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.14;DP=865;ExcessHet=0;FS=1.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.24;SOR=0.588	GT:AD:DP:GQ:PL	0/1:123,104:227:99:2935,0,3413	18	0	1	0
chr18	36205158	36205158	A	G	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.A1100G:p.N367S	Xanthinuria, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2104815	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.0191336769657	.	.	6.59e-05	0	0	0	0	7.492e-05	0	0.0002	5.17e-05	8	154602	rs764235872	1.984e-05	1.984e-05	1.362e-05	2.613e-05	0.0002	1.392e-05	1.204e-05	9.792e-05	7.839e-05	0	0	0	2.519e-05	0	0	1.26e-05	0	0.0002	6.577e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34800	T	0.107	0.37730	T	0.873	0.47975	P	0.687	0.53665	P	0.000000	0.84330	D	0.046469	0.977321	0.39356	D	2.135	0.59519	M	2.05	0.20664	T	-4.37	0.77061	D	0.249	0.28146	-1.0141	0.25625	T	0.099	0.37034	T	10	0.5387493	0.63597	D	0.019134	0.41408	T	0.195	0.47612	0.768	0.89530	0.442261297928	0.43845	0.8418297127309881	0.84142	0.218659089246	0.24407	0.333070397377	0.15397	T	0.484	0.81179	T	-0.406878	0.02085	T	-0.58556	0.14053	T	0.67414927482605	0.39523	D	0.835616	0.50622	T	0.25037003	0.48038	0.26019365	0.51779	0.25037003	0.48038	0.26019365	0.51778	-5.089	0.37791	T	0.21427531210454548	0.28787	0.070	0.03301	B	.	.	2.100292	0.26722	17.22	0.98550789301890251	0.42846	0.91960	0.54637	D	AEFDBCI	0.581879	0.58172	D	0.297097000557823	0.56003	3.764335	0.22455583213919	0.51212	3.305823	0.999999981557522	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.89	4.73	0.59485	4.382000	0.59360	1.359000	0.25866	0.743000	0.86499	1.000000	0.71638	0.109000	0.22772	0.219000	0.22435	0.9215:0.0:0.0785:0.0	10.109	0.41723	838	0.37812	Aminotransferase class V 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	.	.	.	.	.	.	.	.	0.02632	2510.33	182	chr18	36205158	.	A	G	2510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=3610;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.581;SOR=0.692	GT:AD:DP:GQ:PL	0/1:107,97:204:99:2524,0,2844	18	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	827.4	33	chr18	37067196	.	T	C	827.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-6.782;DP=2841;ExcessHet=2.0135;FS=140.873;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.07;SOR=12.018	GT:AD:DP:GQ:PL	0/1:214,46:260:99:132,0,5080	13	0	6	0
chr18	46433311	46433311	G	C	exonic	RNF165	.	nonsynonymous SNV	RNF165:NM_152470:exon2:c.G183C:p.Q61H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0193548578194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.23631	T	0.559	0.09144	T	0.99	0.63424	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	2.045	0.56016	M	2.24	0.17923	T	-0.01	0.07155	N	0.798	0.79406	-1.1086	0.03192	T	0.081	0.31884	T	10	0.66772443	0.70527	D	0.019355	0.41701	T	0.232	0.53354	0.083	0.00760	0.491190814163	0.48754	0.5198751556574452	0.51910	0.579767886639	0.53832	0.735576033592	0.72322	T	0.010393	0.09394	T	0.0748156	0.61428	D	-0.130309	0.60947	T	0.67044723033905	0.39357	D	0.806219	0.45479	T	0.12915836	0.30174	0.16252916	0.37749	0.12915836	0.30174	0.16252916	0.37748	-3.108	0.11388	T	.	.	0.114	0.22609	B	.	.	3.199079	0.43497	21.7	0.9756069990556594	0.34620	0.98438	0.82779	D	AEFDBI	0.801496	0.72719	D	0.623516056524657	0.74665	6.171326	0.64436735754761	0.78192	6.826981	0.9999999993879	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	5.49	5.49	0.81022	7.058000	0.76380	8.473000	0.77277	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.08:0.0:0.92:0.0	11.785	0.51305	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	724.33	39	chr18	46433311	.	G	C	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.181;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.371;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,24:48:99:738,0,656	18	0	1	0
chr18	47034361	47034361	C	G	exonic	ELOA2	.	nonsynonymous SNV	ELOA2:NM_016427:exon1:c.G904C:p.D302H	.	425	1085	12	0	0	12	0.00549954	.	.	.	3546985	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00198798427339	0.0044	0.000998403	0.0039	0.0003	0.0017	0	0.0053	0.0059	0.0077	0.0008	0.0037322	577	154602	rs140916062	0.0048	0.0048	0.0049	0.0047	0.0057	0.0047	0.0046	0.0052	0.0052	0.0009	0.0020	0.0059	0	0.0066	0.0057	0.0054	0.0046	0.0008	0.0043	0.0043	0.0045	0.0041	0.0074	0.0040	0.0039	0.0069	0.0067	0.0006	0.0033	0.0024	0.0049	0	0.0057	0.0068	0.0074	0.0019	0.0006	0.102	0.30235	T	0.014	0.62352	D	0.092	0.25296	B	0.073	0.28123	B	0.814085	0.06845	N	1.176810	1	0.08975	N	2.095	0.58118	M	3.16	0.07711	T	-1.8	0.42384	N	0.084	0.06059	-0.9318	0.43874	T	0.012	0.04416	T	10	0.005583346	0.00123	T	0.001988	0.03588	T	0.011	0.01250	.	.	0.0401082797425	0.02173	0.09962181158894795	0.09893	0.299190559194	0.32285	0.359031915665	0.19245	T	0.046842	0.27545	T	-0.657418	0.00065	T	-0.709435	0.05324	T	0.016715834296314	0.00428	T	0.340966	0.07383	T	0.04583006	0.07568	0.05892569	0.10974	0.04583006	0.07567	0.05892569	0.10973	-2.986	0.10031	T	.	.	0.101	0.17657	B	.	.	2.337080	0.29942	18.28	0.9562979181271728	0.27411	0.02710	0.07363	N	AEFDBI	0.030483	0.03078	N	-1.21349284529092	0.04803	0.217565	-1.30773526157455	0.04329	0.203969	0.0022973118246477	0.09302	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	2.09	0.097	0.13800	0.573000	0.23401	-1.693000	0.04903	-0.356000	0.05535	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.4948:0.3037:0.2015	2.844	0.05199	771	0.49057	.	.	.	.	.	.	Likely benign	0	0	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	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	2183.33	110	chr18	47034361	.	C	G	2183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.166;DP=1469;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.4;SOR=0.828	GT:AD:DP:GQ:PL	0/1:74,77:151:99:2197,0,2141	18	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	688.39	143	chr18	51177112	.	A	G	688.39	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.641;DP=1650;ExcessHet=0.3672;FS=98.343;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=1.16;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,22:172:30:0|1:51177112_A_G:30,0,5376:51177112	13	0	3	3
chr18	54294201	54294201	G	C	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351616:exon8:c.G1594C:p.V532L,POLI:NM_001351610:exon9:c.G1831C:p.V611L,POLI:NM_001351613:exon9:c.G1720C:p.V574L,POLI:NM_001351614:exon9:c.G1648C:p.V550L,POLI:NM_001351615:exon9:c.G1648C:p.V550L,POLI:NM_001351617:exon9:c.G1414C:p.V472L,POLI:NM_001351620:exon9:c.G1177C:p.V393L,POLI:NM_001351611:exon10:c.G1753C:p.V585L,POLI:NM_001351612:exon10:c.G1753C:p.V585L,POLI:NM_001351618:exon10:c.G1414C:p.V472L,POLI:NM_001351619:exon10:c.G1414C:p.V472L,POLI:NM_001351632:exon10:c.G1882C:p.V628L,POLI:NM_007195:exon10:c.G1957C:p.V653L	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0002	0.0091853	0.0036	0.0002	0.0002	0.0022	0	1.507e-05	0.0011	0.0247	0.0032276	499	154602	rs142279753	0.0016	0.0016	0.0010	0.0022	0.0244	0.0015	0.0015	0.0235	0.0231	0.0001	2.239e-05	0	0.0008	0	0.0017	1.35e-05	0.0025	0.0244	0.0011	0.0011	0.0006	0.0016	0.0296	0.0009	0.0009	0.0257	0.0242	0.0002	0	0.0002	0	0.0013	0	0	0	0.0005	0.0296	0.005	0.63226	D	0.051	0.47828	T	0.441	0.35913	B	0.138	0.33406	B	0.213739	0.16303	N	0.618321	0.958977	0.26204	N	2.015	0.55033	M	0.73	0.56446	T	-0.82	0.22508	N	0.041	0.07949	-0.9750	0.36125	T	0.146	0.47092	T	10	0.0027565658	0.00043	T	.	.	.	0.062	0.17934	0.15	0.05339	0.612054658674	0.60893	0.18768033341767634	0.18686	0.0126781612516	0.01211	0.346217244864	0.17363	T	0.058825	0.30947	T	-0.523803	0.00418	T	-0.506259	0.21701	T	0.0157585777557027	0.00366	T	0.888211	0.61727	D	0.05422311	0.10372	0.05948035	0.11171	0.05422311	0.10372	0.05948035	0.11170	-3.511	0.16586	T	.	.	0.087	0.33086	B	.;.;.;.	.;.;.;.	1.113367	0.14988	11.49	0.92615723404452799	0.22082	0.21516	0.21429	N	AEFGBCI	0.117917	0.23079	N	-0.309994150378662	0.28768	1.589515	-0.320464119950474	0.27438	1.522526	0.974199140291195	0.29521	0.732398	0.92422	0	0.709663	0.81188	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.2	3.35	0.37468	0.526000	0.22680	3.241000	0.36966	0.618000	0.50648	0.003000	0.16062	1.000000	0.68203	0.976000	0.56436	0.0:0.1515:0.5358:0.3127	8.395	0.31709	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	2267.33	35	chr18	54294201	.	G	C	2267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.011;DP=802;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.875;SOR=0.553	GT:AD:DP:GQ:PL	0/1:69,84:153:99:2281,0,1922	18	0	1	0
chr18	63318540	63318540	C	T	exonic	BCL2	.	nonsynonymous SNV	BCL2:NM_000633:exon2:c.G127A:p.A43T,BCL2:NM_000657:exon2:c.G127A:p.A43T	Leukemia/lymphoma, B-cell	0	1490	31	1	0	33	0.0109525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0007	0.0397364	0.0190	0.0015	0.0005	0.0904	0	0.0003	0.0099	0.0917	0.0160153	2476	154602	rs1800477	0.0071	0.0073	0.0050	0.0093	0.0790	0.0070	0.0070	0.0774	0.0768	0.0004	0.0006	0	0.0681	2.097e-05	0.0032	0.0002	0.0128	0.0790	0.0068	0.0068	0.0052	0.0085	0.0896	0.0064	0.0063	0.0828	0.0802	0.0015	0	0.0029	0	0.0896	0.0002	0	0.0002	0.0128	0.0868	0.686	0.04353	T	0.672	0.07766	T	0.994	0.66517	D	0.664	0.52930	P	0.584839	0.05557	U	1.321060	0.999483	0.21117	N	0.975	0.24501	L	3.66	0.04228	T	-0.28	0.11547	N	0.018	0.00407	-0.9828	0.34351	T	0.001	0.00318	T	10	0.0017367601	0.00022	T	.	.	.	0.064	0.18567	.	.	.	.	0.3542840710471905	0.35342	0.850350720984	0.68505	0.56729799509	0.48295	T	0.372533	0.73670	T	-0.710834	0.00032	T	-0.716363	0.04974	T	0.0035515613756084	0.00038	T	0.49985	0.15613	T	0.028242368	0.02132	0.052725133	0.08743	0.028242368	0.02131	0.052725133	0.08742	-4.715	0.33585	T	.	.	0.067	0.03266	B	.;.;.	.;.;.	0.909965	0.12842	9.357	0.98120820459476421	0.38432	0.02731	0.07400	N	AEFDBHCI	0.062385	0.11989	N	-0.851366503132075	0.12016	0.5832008	-0.916413075350327	0.11707	0.5980686	0.999999744067704	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.33	1.57	0.22490	-0.025000	0.12361	-0.771000	0.07495	-0.254000	0.07082	0.009000	0.18154	0.013000	0.20296	0.002000	0.04165	0.0:0.6723:0.0:0.3277	7.734	0.27969	874	0.30607	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.041667	0.02632	1854.33	34	chr18	63318540	.	C	T	1854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=784;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.66;SOR=0.815	GT:AD:DP:GQ:PL	0/1:65,70:135:99:1868,0,1470	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,24:93:99:0|1:65824683_C_G:130,0,1599:65824683	1	0	18	0
chr18	78993720	78993720	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1729A:p.V577M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00415615144926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226658460	7.132e-07	5.472e-06	0	1.44e-06	9.167e-07	0	0	.	.	0	0	0	0	0	0	9.167e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.12148	T	0.202	0.28032	T	0.113	0.26349	B	0.01	0.14941	B	0.802117	0.09316	N	0.887734	1	0.08975	N	1.185	0.30054	L	3.27	0.09356	T	-0.51	0.15986	N	0.093	0.07262	-0.9997	0.30002	T	0.025	0.10464	T	10	0.06884894	0.09794	T	0.004156	0.09963	T	0.018	0.03083	0.246	0.18139	0.273938319068	0.27005	0.17200680300119314	0.17120	0.582202368606	0.53986	0.262888163328	0.05238	T	0.020775	0.28041	T	-0.368238	0.03684	T	-0.766725	0.02877	T	0.164693012833595	0.18211	T	0.758824	0.38273	T	0.029577889	0.02476	0.03247396	0.01988	0.029577889	0.02476	0.03247396	0.01988	-6.044	0.47240	T	.	.	0.092	0.13409	B	.;.;.;.	.;.;.;.	-0.337676	0.02456	0.282	0.66967779964704699	0.08215	0.08667	0.14564	N	AEFDBCI	0.103105	0.20666	N	-0.883151805490789	0.11244	0.5415197	-0.995989366622081	0.09874	0.4938868	0.960065993912231	0.28465	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.14	-0.568	0.11171	0.091000	0.14885	-0.823000	0.07287	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4873:0.1229:0.3899:0.0	6.641	0.22103	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1748.33	139	chr18	78993720	.	G	A	1748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=1993;ExcessHet=0;FS=1.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=2.48;SOR=0.788	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1762,0,1317	18	0	1	0
chr18	78993834	78993834	G	C	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1843C:p.A615P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00477806506988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.432e-06	1.368e-06	2.828e-06	0	1.849e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.849e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.243	0.24193	T	0.564	0.38410	P	0.071	0.27960	B	0.058325	0.22410	N	0.365902	1	0.08975	N	0.345	0.11182	N	3.24	0.09450	T	-0.36	0.13035	N	0.173	0.18512	-0.9914	0.32244	T	0.014	0.05417	T	10	0.1806241	0.33255	T	0.004778	0.11941	T	0.095	0.27398	0.536	0.64585	0.432154444652	0.42834	0.3220004972445124	0.32113	0.536705096442	0.51000	0.326018571854	0.14332	T	0.026692	0.26223	T	-0.25161	0.13901	T	-0.599197	0.12879	T	0.634308516979218	0.37797	D	0.685131	0.29402	T	0.1597681	0.35872	0.12955905	0.31149	0.1597681	0.35872	0.12955905	0.31148	-3.588	0.17684	T	.	.	0.070	0.04002	B	.;.;.;.	.;.;.;.	2.175599	0.27729	17.56	0.666384476820714	0.08117	0.85035	0.44136	D	AEFDBCI	0.644386	0.62065	D	-0.486187753423889	0.22533	1.20383	-0.42102054262847	0.24381	1.334791	0.999230893261112	0.38840	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.79	3.92	0.44525	5.218000	0.65089	8.106000	0.76575	0.672000	0.70159	0.995000	0.38783	1.000000	0.68203	0.001000	0.02609	0.0767:0.0:0.9233:0.0	13.338	0.59966	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1482.33	180	chr18	78993834	.	G	C	1482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=2153;ExcessHet=0;FS=4.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.071;SOR=0.358	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1496,0,1211	18	0	1	0
chr18	78994444	78994444	C	T	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.C2453T:p.P818L	.	313	1208	1	0	0	1	0.000413736	.	.	.	3906477	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.014712035411	0.0015	0.000199681	0.0012	0.0005	0.0011	0	0.0006	0.0018	0	0.0004	0.0009702	150	154602	rs78322910	0.0013	0.0013	0.0014	0.0013	0.0021	0.0013	0.0013	0.0015	0.0015	0.0002	0.0009	3.829e-05	0	0.0005	0.0021	0.0015	0.0010	0.0007	0.0009	0.0009	0.0010	0.0008	0.0016	0.0008	0.0007	0.0013	0.0013	0.0005	0	0.0004	0	0	9.409e-05	0	0.0016	0.0019	0	0.12	0.27904	T	0.22	0.32568	T	0.004	0.12183	B	0.002	0.06944	B	0.227656	0.15992	N	0.549098	0.950205	0.37685	D	1.4	0.35362	L	3.28	0.08986	T	-1.93	0.44852	N	0.143	0.14338	-0.9974	0.30646	T	0.023	0.09650	T	10	0.009523302	0.00215	T	0.014712	0.35003	T	0.072	0.21020	.	.	0.477838726898	0.47414	0.304847751161153	0.30397	0.403060197959	0.41255	0.284776926041	0.08167	T	0.058063	0.54783	T	-0.594895	0.00157	T	-0.640532	0.09630	T	0.0366661660373211	0.03096	T	0.724128	0.33779	T	0.03326326	0.03511	0.038691018	0.03792	0.03326326	0.03511	0.038691018	0.03792	-4.52	0.35077	T	.	.	0.081	0.08033	B	.;.;.;.	.;.;.;.	1.653412	0.21093	15.05	0.78542537376770682	0.12346	0.45230	0.27492	N	AEFDBI	0.253511	0.37299	N	-0.547235914034566	0.20570	1.085367	-0.528870817543582	0.21370	1.155744	0.999999979983441	0.74766	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.08	5.08	0.68373	2.671000	0.46507	2.119000	0.30708	-0.194000	0.09177	0.031000	0.20493	0.008000	0.19753	0.000000	0.00833	0.0:1.0:0.0:0.0	18.506	0.90846	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05263	4325.83	180	chr18	78994444	.	C	T	4325.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.55;DP=2362;ExcessHet=0.119;FS=0.851;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.309;SOR=0.638	GT:AD:DP:GQ:PL	0/1:78,73:151:99:1823,0,1940	17	0	2	0
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,9:46:20:0|1:79373905_C_G:20,0,1137:79373905	3	0	9	7
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F,ATP9B:NM_198531:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	2143.27	69	chr18	79373906	.	C	T	2143.27	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,9:46:20:0|1:79373905_C_G:20,0,1137:79373905	11	0	3	5
chr19	287703	287703	G	A	exonic	PLPP2	.	nonsynonymous SNV	PLPP2:NM_003712:exon3:c.C253T:p.R85C,PLPP2:NM_177526:exon3:c.C85T:p.R29C,PLPP2:NM_177543:exon3:c.C316T:p.R106C	.	430	1079	13	0	0	13	0.00598802	.	.	.	3185283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0053	0.00319489	0.0055	0.0012	0.0011	0	0.0083	0.0075	0.0100	0.0048	0.0052975	819	154602	rs61745392	0.0073	0.0073	0.0075	0.0072	0.0081	0.0072	0.0072	0.0080	0.0079	0.0012	0.0010	0.0110	2.519e-05	0.0090	0.0042	0.0081	0.0066	0.0050	0.0046	0.0046	0.0048	0.0043	0.0072	0.0043	0.0042	0.0067	0.0065	0.0011	0	0.0014	0.0081	0	0.0073	0	0.0072	0.0047	0.0050	0.01	0.56456	D	0.014	0.62352	D	1.0	0.90584	D	0.899	0.63802	P	0.002594	0.36278	N	0.301489	0.999784	0.50806	D	.	.	.	-0.96	0.75553	T	-4.29	0.76414	D	0.468	0.55886	-0.0327	0.81573	T	0.427	0.77048	T	10	0.009733021	0.00219	T	.	.	.	0.269	0.58381	.	.	0.883236127117	0.88209	0.8945985127888705	0.89430	1.14340301719	0.79003	0.414103150368	0.27024	T	0.397734	0.75602	T	-0.265803	0.12229	T	-0.150859	0.59167	T	0.0284881090014217	0.01760	T	0.759724	0.38410	T	0.26032472	0.49088	0.17647563	0.40184	0.26032472	0.49088	0.17647563	0.40183	-11.849	0.84108	D	.	.	0.107	0.38871	B	.;.;.;.;.	.;.;.;.;.	4.618677	0.73312	26.0	0.99827801071768196	0.91026	0.94292	0.60703	D	AEFDBI	0.755928	0.69535	D	0.560018066947519	0.70694	5.539335	0.501810052330444	0.68114	5.175376	0.971136005609381	0.29263	0.722319	0.85440	0	0.547309	0.14657	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	5.126000	0.64561	7.216000	0.57834	0.662000	0.56354	1.000000	0.71638	0.999000	0.35428	0.655000	0.32830	0.0:0.0:0.8368:0.1632	12.888	0.57446	988	0.01987	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1168.33	34	chr19	287703	.	G	A	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=755;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.26;SOR=0.821	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1182,0,1498	18	0	1	0
chr19	1827572	1827572	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon2:c.G1217A:p.R406Q	.	423	1097	2	0	0	2	0.000910747	.	.	.	3316028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00751882301514	.	0.000199681	0.0002	0	8.895e-05	0	0	3.308e-05	0	0.0011	0.0001423	22	154602	rs544844051	6.587e-05	6.772e-05	5.662e-05	7.52e-05	0.0008	5.502e-05	5.11e-05	0.0006	0.0006	3.125e-05	0.0002	7.829e-05	5.057e-05	0	0	9.924e-06	0.0002	0.0008	2.626e-05	2.625e-05	2.569e-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	0.307	0.14159	T	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.906739	0.07389	N	1.046900	1	0.08975	N	0.55	0.14455	N	2.6	0.13204	T	0.16	0.05217	N	0.159	0.16586	-0.9816	0.34632	T	0.022	0.09513	T	10	0.011479139	0.00251	T	0.007519	0.19952	T	0.026	0.05648	0.259	0.20159	0.223474106383	0.21959	0.15506640626925794	0.15427	0.108408954616	0.12225	0.228628665209	0.01868	T	0.010462	0.09443	T	-0.631213	0.00094	T	-0.737246	0.04007	T	0.0342478808645442	0.02681	T	0.568443	0.20183	T	0.022430418	0.00906	0.023407657	0.00354	0.022430418	0.00906	0.023407657	0.00354	-4.863	0.35317	T	.	.	0.073	0.04599	B	.	.	0.200200	0.05850	2.292	0.94406976298672296	0.24801	0.01959	0.05945	N	AEFDBCI	0.034651	0.04329	N	-1.57871424921474	0.01374	0.05989406	-1.67833432247034	0.01236	0.05570044	0.999995973198729	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.699875	0.68795	0	.	.	4.12	-6.82	0.01537	0.075000	0.14547	-0.024000	0.12886	-1.665000	0.00808	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2178:0.0:0.7822	13.15	0.58904	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1469.33	48	chr19	1827572	.	C	T	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.65;DP=748;ExcessHet=0;FS=0.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.61;ReadPosRankSum=1.8;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,38:68:99:0|1:1827566_A_G:1483,0,1125:1827566	18	0	1	0
chr19	4859619	4859619	G	T	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon4:c.C319A:p.L107I,PLIN3:NM_001164194:exon4:c.C319A:p.L107I,PLIN3:NM_005817:exon4:c.C319A:p.L107I	.	416	1079	26	1	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.010870	0.026316	0.000000	0.025862	0.012195	0.015152	0.02632	1393.33	33	chr19	4859619	.	G	T	1393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.956;DP=744;ExcessHet=0;FS=4.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.58;SOR=0.851	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1407,0,1218	18	0	1	0
chr19	5831623	5831623	G	T	exonic	FUT6	.	stopgain	FUT6:NM_001040701:exon2:c.C945A:p.Y315X,FUT6:NM_001381957:exon2:c.C945A:p.Y315X,FUT6:NM_000150:exon3:c.C945A:p.Y315X,FUT6:NM_001381955:exon3:c.C945A:p.Y315X,FUT6:NM_001381959:exon3:c.C945A:p.Y315X,FUT6:NM_001369502:exon4:c.C945A:p.Y315X,FUT6:NM_001369504:exon4:c.C945A:p.Y315X,FUT6:NM_001369505:exon4:c.C945A:p.Y315X,FUT6:NM_001381956:exon4:c.C945A:p.Y315X,FUT6:NM_001381958:exon5:c.C945A:p.Y315X	Fucosyltransferase 6 deficiency	2	1482	36	2	0	40	0.0133156	.	.	.	227409	not_provided|Fucosyltransferase_6_deficiency	MedGen:C3661900|MONDO:MONDO:0013462,MedGen:C3151219,OMIM:613852	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0056	0.0289537	0.0177	0.0033	0.0047	0.0690	0.0009	0.0068	0.0191	0.0595	0.0157566	2436	154602	rs145035679	0.0100	0.0100	0.0084	0.0115	0.0561	0.0098	0.0098	0.0548	0.0543	0.0022	0.0054	0.0253	0.0488	0.0011	0.0148	0.0050	0.0178	0.0561	0.0085	0.0085	0.0079	0.0090	0.0620	0.0081	0.0079	0.0565	0.0543	0.0031	0.0055	0.0063	0.0268	0.0620	0.0011	0	0.0052	0.0095	0.0531	.	.	.	.	.	.	.	.	.	.	.	.	0.000060	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.712	0.71498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23637	0.77319	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive|Recessive	.;.;.;.;High|High	7.770720	0.96845	36	0.99036869004821815	0.50939	0.95893	0.66609	D	AEFBI	0.105420	0.21064	N	0.295419678082104	0.55916	3.755734	-0.0017376384826292	0.39638	2.35322	0.891894201422631	0.25870	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	3.11	0.34883	2.739000	0.47083	1.247000	0.25145	0.595000	0.32841	0.997000	0.40164	0.999000	0.35428	0.086000	0.17578	0.0:0.0:1.0:0.0	12.435	0.54931	970	0.06235	.;.;.;.;.	.	.	.	.	.	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	0.015625	0.010101	0.020380	0.005848	0.000000	0.025862	0.003067	0.026515	0.07895	7924.79	34	chr19	5831623	.	G	T	7924.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1346;ExcessHet=0.3672;FS=1.108;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.19;MQRankSum=0.874;QD=13.3;ReadPosRankSum=0.378;SOR=0.609	GT:AD:DP:GQ:PL	0/1:110,118:228:99:3193,0,2815	16	0	3	0
chr19	5831904	5831904	C	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.G664A:p.G222R,FUT6:NM_001381957:exon2:c.G664A:p.G222R,FUT6:NM_000150:exon3:c.G664A:p.G222R,FUT6:NM_001381955:exon3:c.G664A:p.G222R,FUT6:NM_001381959:exon3:c.G664A:p.G222R,FUT6:NM_001369502:exon4:c.G664A:p.G222R,FUT6:NM_001369504:exon4:c.G664A:p.G222R,FUT6:NM_001369505:exon4:c.G664A:p.G222R,FUT6:NM_001381956:exon4:c.G664A:p.G222R,FUT6:NM_001381958:exon5:c.G664A:p.G222R	Fucosyltransferase 6 deficiency	.	.	.	.	.	.	.	.	.	.	4147844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.518	0.239222967908	0.0002	.	3.295e-05	0	0.0003	0	0	0	0.0011	0	2.59e-05	4	154602	rs146312446	1.026e-05	1.026e-05	1.225e-05	8.251e-06	0.0002	6.16e-06	4.89e-06	7.282e-05	5.161e-05	2.988e-05	0.0002	0	0	0	0.0002	3.598e-06	1.656e-05	1.159e-05	2.627e-05	2.625e-05	2.57e-05	2.687e-05	0.0002	8.14e-06	5.14e-06	1.915e-05	1.031e-05	7.222e-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	1.0	0.97372	D	0.000030	0.55875	U	0.000000	0.998488	0.44980	D	4.2	0.97819	H	-1.42	0.80645	T	-7.92	0.96243	D	0.44	0.66787	0.823	0.94694	D	0.792	0.92956	D	10	0.7904728	0.78616	D	0.239223	0.88621	D	0.518	0.79461	0.968	0.99691	0.939175187979	0.93854	0.6424819392194462	0.64183	1.27675254131	0.82425	0.546465933323	0.45358	T	0.280468	0.65317	T	-0.0500953	0.44433	T	-0.0404351	0.67672	D	0.996746420860291	0.89989	D	0.936306	0.79443	D	0.90404284	0.91747	0.82763934	0.90032	0.90404284	0.91748	0.82763934	0.90032	-13.836	0.92512	D	.	.	0.889	0.82389	P	.;.;.;.;.	.;.;.;.;.	3.271362	0.44781	22.0	0.99766420874988759	0.85500	0.98251	0.80941	D	AEFBI	0.808378	0.73217	D	0.524576645079641	0.68547	5.232321	0.232196739445299	0.51643	3.345036	0.35890664254148	0.19758	0.422189	0.06491	0	0.59043	0.45803	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	3.07	3.07	0.34476	5.099000	0.64388	1.540000	0.27221	0.448000	0.21234	1.000000	0.71638	0.347000	0.24452	0.016000	0.10718	0.0:1.0:0.0:0.0	12.415	0.54824	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3102.33	34	chr19	5831904	.	C	T	3102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.28;DP=1979;ExcessHet=0;FS=8.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-0.054;QD=11.75;ReadPosRankSum=-0.977;SOR=0.93	GT:AD:DP:GQ:PL	0/1:148,116:264:99:3116,0,3635	18	0	1	0
chr19	6427470	6427470	G	T	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon5:c.C656A:p.T219K,SLC25A41:NM_001321298:exon6:c.C242A:p.T81K	.	420	1073	29	0	0	29	0.0133333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	.	0.0047	0.00499201	0.0109	0.0009	0.0027	0.0002	0.0162	0.0115	0.0044	0.0261	0.0064294	994	154602	rs191002996	0.0072	0.0072	0.0068	0.0075	0.0154	0.0070	0.0070	0.0147	0.0144	0.0009	0.0018	0.0013	0	0.0092	0.0044	0.0073	0.0057	0.0154	0.0052	0.0052	0.0055	0.0048	0.0135	0.0049	0.0047	0.0108	0.0099	0.0012	0.0011	0.0024	0.0020	0	0.0073	0.0034	0.0080	0.0033	0.0135	0.051	0.39334	T	0.001	0.83351	D	0.998	0.73220	D	0.976	0.73562	D	.	.	.	.	0.999985	0.81001	D	1.585	0.39878	L	-1.17	0.78199	T	-5.9	0.88839	D	0.444	0.48227	-0.1174	0.79695	T	0.444	0.78087	T	9	0.010553807	0.00234	T	.	.	.	0.504	0.78600	.	.	0.604866229831	0.60170	0.44882623000883026	0.44800	0.219830314724	0.24524	0.533281862736	0.43498	T	0.187264	0.54081	T	-0.376014	0.03301	T	-0.30057	0.44664	T	0.0296929814791083	0.01942	T	0.992151	0.97514	D	0.48133796	0.65981	0.56135523	0.74619	0.48133796	0.65982	0.56135523	0.74620	-9.755	0.72432	D	.	.	0.503	0.64736	A	.	.	3.982697	0.58557	24.0	0.98662720312469565	0.44358	0.96505	0.69474	D	AEFBI	0.848083	0.76492	D	0.298140719010819	0.56056	3.769684	0.179448610205924	0.48721	3.084332	0.997010190582956	0.35200	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.06	4.06	0.46572	6.656000	0.74245	8.498000	0.77350	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:1.0:0.0	15.173	0.72574	806	0.43582	.	.	.	.	.	rs191002996	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006592	0.000000	0.005435	0.005882	0.000000	0.008772	0.003086	0.015152	0.02632	1811.33	38	chr19	6427470	.	G	T	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.94;DP=824;ExcessHet=0;FS=5.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.677;SOR=0.863	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1825,0,1680	18	0	1	0
chr19	6734221	6734221	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.C461T:p.P154L	.	410	1101	10	0	1	11	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0048	0.00419329	0.0038	0.0009	0.0022	0.0003	0.0009	0.0046	0	0.0067	0.0040232	622	154602	rs139348331	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0071	0.0009	0.0021	0.0001	7.557e-05	0.0011	0.0043	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0073	0.0034	0.0033	0.0054	0.0052	0.0012	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0073	0.22	0.18956	T	0.158	0.31629	T	0.894	0.49185	P	0.258	0.39350	B	0.853454	0.07072	U	1.085260	0.999493	0.47278	D	2.05	0.56469	M	1.93	0.22881	T	-1.02	0.26843	N	0.337	0.37820	-0.9572	0.39699	T	0.049	0.20868	T	10	0.00436759	0.00089	T	.	.	.	0.079	0.23065	.	.	0.484182897458	0.48051	0.26909468916475454	0.26822	0.233007264821	0.25837	0.354487329721	0.18580	T	0.012394	0.10902	T	-0.496014	0.00602	T	-0.481819	0.24253	T	0.0128035230507367	0.00218	T	0.663934	0.27277	T	0.036734853	0.04575	0.046493825	0.06491	0.036734853	0.04575	0.046493825	0.06491	-4.569	0.31779	T	.	.	0.074	0.05231	B	.	.	1.745668	0.22210	15.53	0.99745819510724698	0.83852	0.62166	0.31700	D	ALL	0.044639	0.07208	N	-0.107655233281546	0.37058	2.150687	-0.209886074529591	0.31180	1.762182	0.999999999976254	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.05	3.05	0.34272	1.814000	0.38610	0.852000	0.22147	0.662000	0.56354	0.972000	0.34453	0.348000	0.24457	0.028000	0.12845	0.0:0.0:1.0:0.0	9.814	0.40010	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.001359	0.000000	0.050000	0.017241	0.003049	0.003788	0.02632	1659.33	39	chr19	6734221	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=844;ExcessHet=0;FS=3.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.135;SOR=0.418	GT:AD:DP:GQ:PL	0/1:66,58:124:99:1673,0,1806	18	0	1	0
chr19	6734281	6734281	T	C	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.A401G:p.Q134R	.	406	1106	9	1	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0049	0.00419329	0.0039	0.0011	0.0023	0.0004	0.0010	0.0047	0	0.0068	0.0040038	619	154602	rs144129725	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0010	0.0021	0.0001	7.557e-05	0.0011	0.0042	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0075	0.0034	0.0033	0.0055	0.0052	0.0013	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0075	0.495	0.07870	T	0.493	0.11443	T	0.941	0.52883	P	0.413	0.44885	B	0.734258	0.09829	U	0.828605	1	0.81001	D	2.48	0.72069	M	1.88	0.23884	T	-1.57	0.37955	N	0.454	0.49146	-1.0682	0.09813	T	0.050	0.21261	T	10	0.0070121586	0.00160	T	.	.	.	0.100	0.28662	.	.	0.390687800842	0.38684	0.6046379522053114	0.60394	0.247364135573	0.27283	0.458822876215	0.33148	T	0.040168	0.25436	T	-0.533994	0.00364	T	-0.536514	0.18641	T	0.0191371003437567	0.00621	T	0.70113	0.31087	T	0.11732288	0.27659	0.08351023	0.19142	0.11732288	0.27659	0.08351023	0.19142	-3.365	0.14589	T	.	.	0.242	0.47622	B	.	.	2.495277	0.32200	18.97	0.99421346354934392	0.63790	0.75056	0.36733	D	AEFDGBHCI	0.103538	0.20740	N	0.0426731223370819	0.43806	2.666421	-0.00611738651292093	0.39437	2.33837	0.999999999913197	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.92	3.92	0.44525	1.011000	0.29513	4.645000	0.44172	-0.123000	0.13640	0.986000	0.36153	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.0:1.0	9.065	0.35621	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.002717	0.000000	0.000000	0.017241	0.003067	0.000000	0.02632	897.33	39	chr19	6734281	.	T	C	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.96;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.726;SOR=0.602	GT:AD:DP:GQ:PL	0/1:37,38:75:99:911,0,1021	18	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L,CLEC4G:NM_198492:exon5:c.A302T:p.Q101L	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0101837	0.0229	0.0053	0	0	0	0.0082	0.0082	0.0303	0.0031953	494	154602	rs36064197	0.0097	0.0093	0.0089	0.0105	0.0289	0.0096	0.0095	0.0279	0.0275	0.0016	0.0032	0.0032	0	0.0140	0.0148	0.0091	0.0084	0.0289	0.0077	0.0077	0.0073	0.0081	0.0292	0.0073	0.0071	0.0253	0.0238	0.0019	0	0.0033	0.0026	0	0.0172	0.0274	0.0100	0.0061	0.0292	0.163	0.23450	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.062862	0.22066	N	0.233416	1	0.08975	N	1.355	0.33814	L	5.39	0.01025	T	-2.44	0.53420	N	0.13	0.12484	-0.9024	0.47739	T	0.003	0.00929	T	10	0.003191352	0.00054	T	.	.	.	0.021	0.04004	.	.	.	.	0.281461959459011	0.28059	0.475177538353	0.46692	0.34300673008	0.16888	T	0.034478	0.23338	T	-0.613224	0.00121	T	-0.631318	0.10315	T	0.000717836883073348	0.00006	T	0.447355	0.12562	T	0.084376894	0.19527	0.077011086	0.17113	0.084376894	0.19527	0.077011086	0.17112	-4.601	0.32184	T	.	.	0.071	0.18828	B	.;.	.;.	1.426226	0.18436	13.74	0.73743340794885404	0.10439	0.01741	0.05494	N	AEFDBHI	0.067515	0.13275	N	-0.925637646405639	0.10245	0.4886584	-0.948569541555381	0.10956	0.5552066	0.992607985525564	0.32901	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.03	1.92	0.24912	0.209000	0.17231	1.305000	0.25500	0.640000	0.52149	0.012000	0.18695	0.684000	0.26137	0.028000	0.12845	0.2408:0.1198:0.0:0.6394	2.824	0.05143	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006993	0.012500	0.004310	0.000000	0.000000	0.000000	0.012097	0.010417	0.02632	295.33	25	chr19	7730841	.	T	A	295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=554;ExcessHet=0;FS=1.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.256;SOR=0.425	GT:AD:DP:GQ:PL	0/1:17,10:27:99:309,0,534	18	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:65,19:84:77:77,0,1582	6	0	10	3
chr19	8302540	8302540	G	A	exonic	CD320	.	nonsynonymous SNV	CD320:NM_001165895:exon4:c.C646T:p.R216C,CD320:NM_016579:exon5:c.C772T:p.R258C	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	1	1483	35	3	0	41	0.0136349	.	.	.	377924	not_specified|not_provided|Methylmalonic_acidemia_due_to_transcobalamin_receptor_defect	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013341,MedGen:C4749905,OMIM:613646,Orphanet:280183	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0003	0.038139	0.0214	0.0004	0.0010	0.0012	0.0002	0.0002	0.0200	0.1531	0.0185703	2871	154602	rs146190802	0.0095	0.0095	0.0053	0.0138	0.1518	0.0094	0.0093	0.1496	0.1487	0.0003	0.0002	0	0.0007	0	0.0052	0.0001	0.0095	0.1518	0.0056	0.0056	0.0029	0.0085	0.1726	0.0053	0.0052	0.1628	0.1589	0.0002	0	0.0001	0	0.0014	0	0	0.0001	0.0014	0.1726	0.17	0.22833	T	0.222	0.26386	T	0.078	0.24389	B	0.006	0.12133	B	0.728254	0.06354	N	1.162570	1	0.08975	N	1.3	0.32576	L	-4.15	0.96798	D	-1.39	0.34397	N	0.131	0.12627	-0.0917	0.80289	T	0.702	0.89742	D	10	0.0018918812	0.00026	T	.	.	.	0.171	0.43483	.	.	.	.	0.3110424995330931	0.31017	0.157689357993	0.17809	0.29886674881	0.10233	T	0.066763	0.33029	T	-0.402434	0.02232	T	-0.221025	0.52639	T	0.0059618278642031	0.00066	T	0.743426	0.36288	T	0.045751784	0.07541	0.029124541	0.01216	0.045751784	0.07541	0.029124541	0.01216	-6.356	0.49165	T	.	.	0.125	0.50306	B	.;.	.;.	1.040065	0.14208	10.78	0.94690428476183652	0.25333	0.02128	0.06281	N	ALL	0.064749	0.12591	N	-1.02829929009047	0.08019	0.3745948	-1.10097199002992	0.07682	0.3746335	0.100542589210616	0.16356	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.76	-1.38	0.08554	-0.290000	0.08390	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.5174:0.0:0.4826:0.0	6.927	0.23599	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	1	0	0	1	0	1	0	0.012097	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.060606	0.02632	998.33	34	chr19	8302540	.	G	A	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.425;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.393;SOR=0.592	GT:AD:DP:GQ:PL	0/1:26,41:67:99:1012,0,615	18	0	1	0
chr19	8888733	8888733	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40766G:p.D13589G	.	394	1124	2	2	0	6	0.00266193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0236134229931	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796460354	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.833e-05	0.0030	1.791e-05	1.877e-05	9.259e-05	3.04e-06	1.14e-06	.	.	3.401e-05	0	9.259e-05	0	0	0	0	0	0	0	0.019	0.50132	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	1.09	0.39223	T	-1.59	0.38345	N	0.407	0.44761	-0.6514	0.62653	T	0.212	0.57321	T	8	0.20552856	0.36782	T	0.023613	0.46578	T	0.128	0.35103	.	.	0.146414634003	0.14194	0.19770301623938222	0.19687	.	.	0.299555659294	0.10335	T	.	.	.	-0.119382	0.33225	T	-0.409261	0.32310	T	0.348448395729065	0.26958	T	0.735226	0.35154	T	.	.	.	.	.	.	.	.	-7.689	0.58931	D	.	.	0.133	0.28664	B	.	.	1.835629	0.23322	15.97	0.9959769039303753	0.73983	0.08628	0.14530	N	AEFBI	0.055099	0.10074	N	-0.264095193715853	0.30545	1.704151	-0.390882496758417	0.25267	1.388531	2.4161992490188E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	2.45	0.28953	0.202000	0.17094	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.1363:0.0:0.8637	5.345	0.15307	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	94.97	652	chr19	8888733	.	T	C	94.97	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.24;DP=7616;ExcessHet=0.119;FS=10.833;InbreedingCoeff=-0.0632;MLEAC=1;MLEAF=0.028;MQ=57.24;MQRankSum=-10.3;QD=0.08;ReadPosRankSum=-4.45;SOR=2.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:460,34:494:5:0|1:8888733_T_C:5,0,19136:8888733	16	0	2	1
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	7310.79	681	chr19	8888745	.	G	A	7310.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.188;DP=8858;ExcessHet=4.0268;FS=2.799;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.125;MQ=56.47;MQRankSum=-12.32;QD=1.68;ReadPosRankSum=0.732;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:453,41:526:99:.:.:276,0,19288:.	12	0	4	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2086.43	696	chr19	8888746	.	T	G	2086.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.145;DP=8818;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.24;MQRankSum=-9.961;QD=0.94;ReadPosRankSum=-3.348;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:489,41:530:99:0|1:8888733_T_C:229,0,20348:8888733	15	0	4	0
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	3381.43	598	chr19	8888763	.	G	A	3381.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.37;DP=10081;ExcessHet=0.7564;FS=19.396;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.97;MQRankSum=-9.973;QD=1.4;ReadPosRankSum=1.4;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:575,62:637:99:0|1:8888763_G_A:846,0,23933:8888763	15	0	4	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	1400.79	589	chr19	8888772	.	T	C	1400.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.529;DP=10042;ExcessHet=0.3672;FS=19.338;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.04;MQRankSum=-9.956;QD=0.77;ReadPosRankSum=1.05;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:583,60:643:99:0|1:8888763_G_A:764,0,24299:8888763	16	0	3	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,80:472:99:0|1:8888826_T_*:2367,0,13779:8888826	2	0	17	0
chr19	8962383	8962383	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C14387G:p.T4796R	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.000577484096583	.	.	7.491e-05	0	0.0002	0	0	3.005e-05	0	0.0003	5.82e-05	9	154602	rs765644259	5.476e-05	5.472e-05	4.358e-05	6.606e-05	0.0003	4.48e-05	4.15e-05	0.0002	0.0002	0	4.479e-05	0	0	0	0.0002	3.599e-05	0.0001	0.0003	2.626e-05	2.625e-05	1.285e-05	4.027e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	0.027	0.46513	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.94	0.25118	N	0.077	0.05162	-0.9972	0.30701	T	0.020	0.08500	T	8	0.03425798	0.01627	T	5.77E-4	0.00246	T	0.048	0.13305	0.15	0.05339	0.115124310173	0.11017	0.056108014265579854	0.05551	.	.	0.192575097084	0.00274	T	.	.	.	-0.535699	0.00355	T	-0.711078	0.05239	T	0.0399457059701247	0.03680	T	0.208179	0.02493	T	.	.	.	.	.	.	.	.	-5.051	0.37389	T	.	.	0.102	0.18080	B	.	.	-0.194887	0.03116	0.497	0.13666500354153346	0.00277	0.01792	0.05602	N	AEFBI	0.025304	0.01711	N	-1.7733248050774	0.00614	0.02645627	-1.84910674130697	0.00614	0.02729889	2.92334270481457E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-2.77	0.05529	0.074000	0.14525	.	.	-2.798000	0.00185	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1701:0.2343:0.358:0.2377	0.718	0.00876	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3493.33	129	chr19	8962383	.	G	C	3493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.958;DP=2274;ExcessHet=0;FS=0.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-0.873;SOR=0.633	GT:AD:DP:GQ:PL	0/1:94,124:218:99:3507,0,2674	18	0	1	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G,TYK2:NM_001385198:exon24:c.A3338G:p.E1113G,TYK2:NM_001385199:exon24:c.A3302G:p.E1101G,TYK2:NM_001385201:exon24:c.A3290G:p.E1097G,TYK2:NM_001385200:exon25:c.A3485G:p.E1162G,TYK2:NM_001385204:exon25:c.A3698G:p.E1233G,TYK2:NM_001385205:exon25:c.A3398G:p.E1133G,TYK2:NM_001385206:exon25:c.A3362G:p.E1121G,TYK2:NM_001385207:exon25:c.A3470G:p.E1157G,TYK2:NM_003331:exon25:c.A3488G:p.E1163G,TYK2:NM_001385202:exon26:c.A3404G:p.E1135G,TYK2:NM_001385203:exon26:c.A3569G:p.E1190G	Immunodeficiency 35, Autosomal recessive	1	1402	108	11	0	130	0.0443081	.	.	.	468200	not_specified|not_provided|Immunodeficiency_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	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	.	.	.	.	.	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	0.020645	0.005051	0.012228	0.023392	0.000000	0.025862	0.045732	0.026515	0.1316	11463.4	35	chr19	10350910	.	T	C	11463.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.968;DP=1439;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.093;SOR=0.677	GT:AD:DP:GQ:PL	0/1:105,83:188:99:2194,0,2873	14	0	5	0
chr19	12272828	12272828	T	C	exonic	ZNF44	.	nonsynonymous SNV	ZNF44:NM_001353551:exon4:c.A1331G:p.Y444C,ZNF44:NM_001353552:exon4:c.A1091G:p.Y364C,ZNF44:NM_016264:exon4:c.A1427G:p.Y476C,ZNF44:NM_001164276:exon5:c.A1571G:p.Y524C,ZNF44:NM_001353550:exon5:c.A1331G:p.Y444C,ZNF44:NM_001353553:exon5:c.A1091G:p.Y364C,ZNF44:NM_001353549:exon6:c.A1331G:p.Y444C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0023208979662	.	.	5.795e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs763273957	1.642e-05	1.642e-05	1.361e-05	1.925e-05	0.0003	1.111e-05	9.33e-06	0.0002	0.0001	0	0	0	0	0	0	0	3.313e-05	0.0003	6.565e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.022	0.48642	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	.	.	.	2.655	0.77738	M	1.8	0.25344	T	-7.09	0.93950	D	0.184	0.19995	-0.8952	0.48465	T	0.129	0.43706	T	8	0.16234463	0.30427	T	0.002321	0.04479	T	0.042	0.11227	0.477	0.55502	0.384752662912	0.38087	0.048296450050406114	0.04772	0.400840360068	0.41082	0.249673366547	0.03733	T	0.085632	0.37545	T	-0.405276	0.02137	T	-0.491967	0.23184	T	0.79991626739502	0.46347	D	0.690331	0.29972	T	0.27050084	0.50122	0.19448802	0.43074	0.27050084	0.50121	0.19448802	0.43073	-7.5	0.57610	T	.	.	0.173	0.38025	B	.;.	.;.	2.485138	0.32052	18.93	0.93764261127799997	0.23712	0.00012	0.00170	N	AEFBCI	0.045870	0.07551	N	-0.337489297244646	0.27735	1.524068	-0.692115409297644	0.17157	0.9110482	0.0017911414989781	0.08891	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	1.12	-0.0347	0.13223	-2.213000	0.01308	.	.	0.349000	0.19912	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2458:0.0:0.2495:0.5047	2.839	0.05182	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	34	chr19	12272828	.	T	C	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=903;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.917;SOR=0.637	GT:AD:DP:GQ:PL	0/1:78,54:132:99:1553,0,2179	18	0	1	0
chr19	13830776	13830776	G	A	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_023072:exon13:c.G2696A:p.R899H,ZSWIM4:NM_001367834:exon14:c.G3047A:p.R1016H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0380915739549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.442e-06	6.84e-06	2.737e-06	4.155e-06	4.685e-05	1.01e-06	7.3e-07	1.594e-05	9.37e-06	0	0	0	0	0	0	9.026e-07	0	4.685e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.23183	T	0.128	0.34959	T	0.882	0.48483	P	0.405	0.44649	B	0.000841	0.41440	D	0.000000	0.834556	0.37680	D	1.7	0.43825	L	0.87	0.46412	T	-1.83	0.42957	N	0.257	0.29081	-1.0195	0.23877	T	0.102	0.37718	T	10	0.28691387	0.46274	T	0.038092	0.58018	D	0.082	0.23913	0.369	0.37850	0.258283824007	0.25425	0.3267905174749883	0.32592	0.745186244007	0.63473	0.860111057758	0.91127	D	0.023824	0.18118	T	-0.148592	0.28532	T	-0.451218	0.27563	T	0.730296015739441	0.42225	D	0.867913	0.56927	D	0.047067225	0.07985	0.037750933	0.03493	0.047067225	0.07984	0.037750933	0.03493	-4.546	0.31486	T	.	.	0.152	0.33778	B	.;.	.;.	3.476070	0.48518	22.6	0.9980053671330138	0.88550	0.69011	0.34020	D	AEFDBHCIJ	0.381293	0.46361	N	-0.213137558596452	0.32593	1.83985	-0.298113577546854	0.28161	1.567953	0.999999866086998	0.74766	0.651	0.46895	0	0.694456	0.67091	0	0.65145	0.50148	0	0.508809	0.08732	0	.	.	4.37	2.13	0.26445	3.793000	0.55188	8.207000	0.76811	0.526000	0.24426	0.991000	0.37257	1.000000	0.68203	0.019000	0.11356	0.0995:0.1719:0.7286:0.0	7.302	0.25602	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3219.33	97	chr19	13830776	.	G	A	3219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.027;DP=917;ExcessHet=0;FS=5.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-2.097;SOR=1.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,84:144:99:0|1:13830776_G_A:3233,0,2242:13830776	18	0	1	0
chr19	13892796	13892796	G	A	exonic	C19orf57	.	nonsynonymous SNV	C19orf57:NM_001345846:exon4:c.C29T:p.A10V,C19orf57:NM_001345847:exon4:c.C29T:p.A10V,C19orf57:NM_001345843:exon5:c.C800T:p.A267V,C19orf57:NM_001345844:exon5:c.C800T:p.A267V,C19orf57:NM_001345848:exon5:c.C800T:p.A267V,C19orf57:NM_024323:exon5:c.C383T:p.A128V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00574338980632	.	.	8.262e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs144225775	6.158e-06	6.156e-06	1.362e-06	1.1e-05	0.0001	2.9e-06	2.1e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	0	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.249	0.17183	T	0.417	0.20357	T	0.115	0.26429	B	0.046	0.24676	B	0.357780	0.13717	N	0.546274	1	0.08975	N	1.445	0.36358	L	1.45	0.32482	T	-2.09	0.47683	N	0.189	0.26354	-1.0264	0.21625	T	0.034	0.14552	T	10	0.057018697	0.06483	T	0.005743	0.14892	T	0.034	0.08419	0.106	0.01810	0.117506650769	0.11410	0.025983890148127582	0.02549	0.119547066601	0.13463	.	.	.	0.001953	0.12647	T	-0.437957	0.01330	T	-0.664217	0.07985	T	0.0517444163560867	0.05803	T	0.649735	0.26051	T	0.06685958	0.14426	0.059782658	0.11276	0.06685958	0.14426	0.059782658	0.11276	-4.129	0.25716	T	.	.	0.138	0.30103	B	.;.;.	.;.;.	1.468549	0.18922	14.00	0.93561345592943479	0.23399	0.05394	0.11260	N	AEFDBI	0.086319	0.17502	N	-0.968936512605697	0.09272	0.438157	-0.986635498947222	0.10085	0.5057319	0.00495426558766078	0.10775	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.42	0.828	0.17978	0.724000	0.25624	1.043000	0.23573	0.672000	0.70159	0.001000	0.13787	0.000000	0.08366	0.059000	0.15899	0.2109:0.0:0.5947:0.1945	3.63	0.07669	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	727.33	33	chr19	13892796	.	G	A	727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=695;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.57;SOR=0.421	GT:AD:DP:GQ:PL	0/1:45,29:74:99:741,0,1235	18	0	1	0
chr19	14841642	14841642	G	A	exonic	OR7A10	.	nonsynonymous SNV	OR7A10:NM_001005190:exon1:c.C236T:p.P79L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.00228677758081	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs772301470	3.42e-06	3.42e-06	4.084e-06	2.75e-06	1.159e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	1.159e-05	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.023	0.57104	D	0.99	0.63424	D	0.603	0.50895	P	0.001553	0.38671	U	0.000000	0.999577	0.47641	D	3.55	0.93268	H	4.6	0.01868	T	-9.48	0.98437	D	0.718	0.72031	-1.0704	0.09326	T	0.024	0.10013	T	10	0.929333	0.92276	D	0.002287	0.04397	T	0.242	0.54781	0.748	0.87905	0.589635058153	0.58638	0.3591710944444259	0.35831	0.277466222095	0.30228	0.280374884605	0.07544	T	0.006209	0.05647	T	-0.170962	0.25089	T	-0.314223	0.43204	T	0.98950457572937	0.79737	D	0.871813	0.57812	D	0.29521766	0.52473	0.25876144	0.51613	0.29521766	0.52472	0.25876144	0.51612	-8.005	0.61105	D	.	.	0.313	0.53967	B	.;.	.;.	3.151391	0.42666	21.6	0.98960651770368935	0.49324	0.98508	0.83525	D	AEFBI	0.611653	0.60002	D	0.47465897134105	0.65616	4.844812	0.308067706909178	0.56011	3.764212	0.923614596676026	0.26750	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.79	2.79	0.31792	8.436000	0.90163	.	.	0.579000	0.29447	1.000000	0.71638	0.470000	0.25048	0.011000	0.09372	0.0:0.0:1.0:0.0	11.421	0.49225	970	0.06235	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	.	.	.	.	.	.	.	.	0.02632	2709.33	34	chr19	14841642	.	G	A	2709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=1305;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.339;SOR=0.609	GT:AD:DP:GQ:PL	0/1:91,93:184:99:2723,0,2298	18	0	1	0
chr19	17286647	17286647	-	GTGT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1726_1727insGTGT:p.L591Vfs*35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235741244	0.0005	0.0008	0.0005	0.0005	0.0113	0.0004	0.0004	0.0103	0.0099	0.0003	0.0007	0	0.0113	0.0007	0.0008	0.0001	0.0009	0.0008	0.0018	0.0020	0.0018	0.0018	0.0272	0.0016	0.0015	0.0233	0.0218	0.0007	0	0.0011	0	0.0272	0.0012	0	0.0008	0.0015	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2380.99	33	chr19	17286647	.	G	GGTGT	2380.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=1028;ExcessHet=4.0268;FS=0.483;InbreedingCoeff=-0.2666;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.257;SOR=0.754	GT:AD:DP:GQ:PL	0/1:25,8:35:99:242,0,1159	18	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	0/1:18,18:36:99:1079,0,806	4	6	8	1
chr19	18919802	18919802	G	A	exonic	DDX49	.	nonsynonymous SNV	DDX49:NM_019070:exon1:c.G61A:p.G21S	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	.	0.0065	0.00179712	0.0068	0.0026	0.0050	0.0001	0.0049	0.0103	0.0057	0.0016	0.0062095	960	154602	rs139869066	0.0080	0.0080	0.0082	0.0078	0.0111	0.0079	0.0078	0.0089	0.0085	0.0015	0.0063	0.0279	2.521e-05	0.0046	0.0111	0.0087	0.0087	0.0016	0.0067	0.0067	0.0070	0.0065	0.0094	0.0064	0.0063	0.0088	0.0086	0.0020	0.0241	0.0084	0.0216	0	0.0042	0	0.0094	0.0090	0.0023	0.025	0.47320	D	0.04	0.60337	D	0.852	0.47012	P	0.414	0.44907	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.84	0.48285	L	1.51	0.30937	T	-4.68	0.79659	D	0.587	0.60749	-1.0819	0.06984	T	0.064	0.26385	T	10	0.008049309	0.00183	T	.	.	.	0.339	0.66106	.	.	0.541875726618	0.53840	0.823232274964152	0.82280	0.924360987109	0.71577	0.65067076683	0.60080	T	0.261293	0.63276	T	-0.269055	0.11863	T	-0.14986	0.59255	T	0.0315823287565548	0.02239	T	0.958804	0.84482	D	0.7750597	0.82352	0.7672163	0.86251	0.7750597	0.82353	0.7672163	0.86252	-6.256	0.48373	T	.	.	0.333	0.55459	B	.;.	.;.	4.300879	0.65672	24.9	0.99807282849827272	0.89174	0.98114	0.79716	D	AEFGBHCIJ	0.939040	0.93908	D	0.53583956024557	0.69225	5.326782	0.612684411253711	0.75862	6.385913	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	8.682000	0.90955	11.688000	0.94314	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.890	0.88784	940	0.13648	RNA helicase, DEAD-box type, Q motif|Helicase superfamily 1/2, ATP-binding domain;RNA helicase, DEAD-box type, Q motif	ATP13A1	Adipose_Visceral_Omentum	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.015152	0.008152	0.008772	0.000000	0.008621	0.012195	0.003788	0.05263	2491.83	37	chr19	18919802	.	G	A	2491.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.766;DP=809;ExcessHet=0.119;FS=0.539;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.162;SOR=0.773	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1015,0,1182	17	0	2	0
chr19	19563561	19563561	C	T	exonic	PBX4	.	nonsynonymous SNV	PBX4:NM_025245:exon7:c.G980A:p.R327Q	.	421	1045	53	3	0	59	0.0274546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0020	0.00519169	0.0146	0.0017	0.0205	0	0.025	0.0063	0.0215	0.0265	0.002859	442	154602	rs141765874	0.0033	0.0033	0.0026	0.0041	0.0238	0.0032	0.0032	0.0228	0.0224	0.0009	0.0023	0.0074	5.548e-05	0.0004	0.0238	0.0019	0.0045	0.0237	0.0027	0.0027	0.0023	0.0032	0.0259	0.0025	0.0024	0.0222	0.0208	0.0006	0	0.0030	0.0089	0.0002	9.425e-05	0.0272	0.0025	0.0052	0.0259	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.029183	0.25490	N	0.374285	0.99985	0.20048	N	-0.835	0.01514	N	-2.43	0.88689	D	0.55	0.02721	N	0.054	0.02559	-0.7570	0.57567	T	0.162	0.49698	T	10	0.00417009	0.00083	T	.	.	.	0.158	0.41098	.	.	0.652033478655	0.64913	0.22012128260220112	0.21928	0.172531800969	0.19429	0.427890986204	0.28921	T	0.015137	0.12752	T	-0.542268	0.00325	T	-0.533453	0.18944	T	0.000349907009447481	0.00003	T	0.428457	0.11587	T	0.017614858	0.00288	0.026358206	0.00721	0.017614858	0.00287	0.026358206	0.00720	-2.182	0.03954	T	.	.	0.064	0.01762	B	.	.	-0.526882	0.01783	0.137	0.20598641616943153	0.00748	0.02920	0.07728	N	AEFDBI	0.025959	0.01868	N	-1.48482500715598	0.01957	0.0859137	-1.39234968934554	0.03333	0.1552553	0.00453885202476798	0.10604	0.696267	0.57585	0	0.577304	0.33150	0	0.691665	0.62940	0	0.613276	0.41899	0	.	.	3.23	-0.5	0.11412	0.432000	0.21180	.	.	-0.927000	0.02165	0.933000	0.32380	0.026000	0.21063	0.011000	0.09372	0.0:0.3662:0.0:0.6338	6.545	0.21597	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020697	0.011111	0.014837	0.049689	0.000000	0.019608	0.006667	0.028226	0.07895	4946.79	34	chr19	19563561	.	C	T	4946.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.266;DP=939;ExcessHet=0.3672;FS=0.843;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.945;SOR=0.759	GT:AD:DP:GQ:PL	0/1:43,63:106:99:1554,0,1017	16	0	3	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3242.86	183	chr19	21383191	.	G	A	3242.86	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.267;DP=2155;ExcessHet=4.0268;FS=7.059;InbreedingCoeff=-0.3333;MLEAC=9;MLEAF=0.281;MQ=58.7;MQRankSum=-11.53;QD=2.49;ReadPosRankSum=-1.253;SOR=1.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,19:161:99:0|1:21383168_A_G:370,0,5905:21383168	8	0	8	3
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	2200.43	182	chr19	21383196	.	T	C	2200.43	.	AC=8;AF=0.235;AN=34;BaseQRankSum=1.69;DP=2105;ExcessHet=4.0268;FS=7.984;InbreedingCoeff=-0.3099;MLEAC=9;MLEAF=0.265;MQ=58.83;MQRankSum=-11.88;QD=1.72;ReadPosRankSum=-1.247;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:21383168_A_G:238,0,5998:21383168	9	0	8	2
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1572.62	181	chr19	21383203	.	A	AACTC	1572.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.25;DP=2083;ExcessHet=2.0135;FS=8.544;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=58.86;MQRankSum=-12.12;QD=1.64;ReadPosRankSum=-1.552;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,14:161:99:0|1:21383168_A_G:145,0,6130:21383168	13	0	6	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1490.66	183	chr19	21383205	.	GTCAA	G	1490.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=5.08;DP=1945;ExcessHet=2.0135;FS=8.452;InbreedingCoeff=-0.2068;MLEAC=6;MLEAF=0.167;MQ=58.77;MQRankSum=-12.23;QD=1.53;ReadPosRankSum=-1.111;SOR=1.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,14:164:99:0|1:21383168_A_G:136,0,6256:21383168	12	0	6	1
chr19	21383228	21383228	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A682G:p.R228G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224923620	0	2.466e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.677e-06	0.0004	1.304e-05	0	1.489e-05	0	0	.	.	0	0	0	0	0	0	0	1.489e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	127.35	39	chr19	21383228	.	A	G	127.35	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.28;DP=1277;ExcessHet=0.119;FS=20.958;InbreedingCoeff=-0.059;MLEAC=1;MLEAF=0.028;MQ=58.47;MQRankSum=-10.83;QD=0.48;ReadPosRankSum=-0.018;SOR=2.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,9:134:2:0|1:21383168_A_G:2,0,5222:21383168	16	0	2	1
chr19	21383229	21383229	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G683A:p.R228K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307063752	0	2.465e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.692e-06	0.0003	1.305e-05	0	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	85.97	39	chr19	21383229	.	G	A	85.97	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.74;DP=1268;ExcessHet=0.119;FS=28.966;InbreedingCoeff=-0.0632;MLEAC=1;MLEAF=0.028;MQ=58.55;MQRankSum=-10.79;QD=0.32;ReadPosRankSum=-0.193;SOR=3.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,9:133:5:0|1:21383168_A_G:5,0,5180:21383168	16	0	2	1
chr19	21383231	21383231	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G685A:p.E229K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232738302	0	2.329e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.685e-06	0.0004	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	91.67	39	chr19	21383231	.	G	A	91.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3;DP=1261;ExcessHet=0.119;FS=27.176;InbreedingCoeff=-0.0693;MLEAC=2;MLEAF=0.056;MQ=58.74;MQRankSum=-11.08;QD=0.35;ReadPosRankSum=-0.587;SOR=4.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,9:130:14:0|1:21383168_A_G:14,0,5054:21383168	16	0	2	1
chr19	21383236	21383240	TTCTT	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.690_694del:p.N230Kfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282987711	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.573e-06	0.0003	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	49.47	39	chr19	21383235	.	ATTCTT	A	49.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.77;DP=1229;ExcessHet=0.119;FS=26.461;InbreedingCoeff=-0.0534;MLEAC=1;MLEAF=0.026;MQ=58.55;MQRankSum=-10.7;QD=0.19;ReadPosRankSum=-0.696;SOR=3.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,9:131:11:0|1:21383168_A_G:11,0,5096:21383168	17	0	2	0
chr19	21383247	21383247	G	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G701C:p.C234S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231355115	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.648e-06	0.0002	1.298e-05	0	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	41.09	39	chr19	21383247	.	G	C	41.09	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.43;DP=1105;ExcessHet=0.119;FS=21.538;InbreedingCoeff=-0.0682;MLEAC=2;MLEAF=0.056;MQ=58.4;MQRankSum=-9.994;QD=0.18;ReadPosRankSum=-2.43;SOR=3.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,8:116:11:0|1:21383168_A_G:11,0,4511:21383168	16	0	2	1
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6047.41	76	chr19	21383393	.	G	*	6047.41	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.652;DP=1171;ExcessHet=0.6984;FS=2.485;InbreedingCoeff=0.0952;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.4;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,30:100:99:.:.:1058,0,2817:.	13	1	5	0
chr19	22758350	22758350	T	C	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.A1559G:p.H520R	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000654558762298	.	0.000998403	0.0005	0	0	0.0039	0	1.539e-05	0.0011	0.0012	0.0001921	5	26028	rs555889541	0.0001	0.0002	7.356e-05	0.0001	0.0017	8.922e-05	8.406e-05	0.0014	0.0013	0	0	0	0.0017	0	0.0017	2.699e-06	0.0001	0.0007	0.0001	0.0002	0.0001	8.095e-05	0.0026	7.118e-05	5.769e-05	0.0015	0.0012	0	0	0	0	0.0026	0	0	0	0	0.0008	0.601	0.05618	T	0.587	0.11586	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.415	0.12483	N	2.89	0.10196	T	-0.54	0.16598	N	0.024	0.01911	-0.9389	0.42790	T	0.015	0.06186	T	9	0.006577015	0.00149	T	6.55E-4	0.00350	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.006545758269375371	0.00622	0.0172038814892	0.01670	0.281351387501	0.07682	T	0.031941	0.22267	T	-0.760922	0.00015	T	-0.873052	0.00714	T	0.0124675248085512	0.00205	T	0.0208979	0.00116	T	0.02602022	0.01607	0.05360453	0.09062	0.02602022	0.01606	0.05360453	0.09061	-4.394	0.29475	T	.	.	0.213	0.44135	B	.;.	.;.	-1.650472	0.00216	0.003	0.26305179373283971	0.01254	0.00424	0.02089	N	AEFBI	0.031681	0.03434	N	-1.19869480240538	0.05020	0.2278885	-1.26152604800162	0.04962	0.2353598	1.28197874612141E-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	1.16	0.19936	-5.360000	0.00153	.	.	-3.882000	0.00054	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.2962:0.7038	5.213	0.14649	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	324.33	156	chr19	22758350	.	T	C	324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.05;DP=1457;ExcessHet=0;FS=11.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.36;MQRankSum=-3.925;QD=2.98;ReadPosRankSum=-2.225;SOR=2.031	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,19:109:99:0|1:22758350_T_C:338,0,3551:22758350	18	0	1	0
chr19	22759465	22759465	G	T	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.C444A:p.N148K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000935345684201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.04456	T	0.22	0.25907	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.91	0.23283	L	1.65	0.35775	T	-2.7	0.57599	D	0.044	0.05162	-1.0174	0.24560	T	0.028	0.12014	T	9	0.04697579	0.03955	T	9.35E-4	0.00911	T	0.017	0.02790	.	.	0.0551355673512	0.04727	0.004355172275228005	0.00409	0.0240627648956	0.02442	0.347415685654	0.17541	T	0.122262	0.44581	T	-0.398311	0.02375	T	-0.809923	0.01667	T	0.0734947575250282	0.09133	T	0.0894911	0.00663	T	0.026629655	0.01745	0.041058727	0.04580	0.026629655	0.01745	0.041058727	0.04580	-4.886	0.35577	T	.	.	0.110	0.21877	B	.;.	.;.	-1.687127	0.00200	0.003	0.39880723345543695	0.02780	0.00229	0.01284	N	AEFBI	0.023709	0.01360	N	-1.85197758697155	0.00430	0.01849717	-1.95974703976817	0.00371	0.01640442	7.84120020547189E-4	0.07810	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.09	-4.18	0.03584	-5.187000	0.00169	.	.	-3.160000	0.00116	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2767:0.2656:0.1106:0.347	0.618	0.00722	988	0.01987	.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2196.33	75	chr19	22759465	.	G	T	2196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=1173;ExcessHet=0;FS=1.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.498;SOR=0.805	GT:AD:DP:GQ:PL	0/1:92,82:174:99:2210,0,2408	18	0	1	0
chr19	31278852	31278852	G	C	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.C941G:p.A314G	.	.	.	.	.	.	.	.	.	.	.	3512124	TSHZ3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.097	0.018904063848	.	0.000798722	0.0003	0	0	0	0	0	0	0.0023	0.0002717	42	154602	rs528782093	0.0001	0.0001	6.398e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0.0002	0	0.0001	0.0019	5.256e-05	5.25e-05	1.286e-05	9.405e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.01	0.56456	D	0.044	0.49663	D	0.083	0.24734	B	0.057	0.26280	B	0.000007	0.62929	D	0.108055	1	0.81001	D	2.215	0.62545	M	2.66	0.12575	T	-1.0	0.26422	N	0.515	0.54584	-1.1075	0.03293	T	0.039	0.16634	T	10	0.014172733	0.00298	T	0.018904	0.41110	T	0.097	0.27909	0.232	0.16005	0.149567049428	0.14543	0.5191020497826752	0.51833	0.456578802187	0.45305	0.643159747124	0.59014	T	0.154139	0.49530	T	-0.466575	0.00894	T	-0.449146	0.27792	T	0.214196332080509	0.21170	T	0.885811	0.61165	D	0.2014935	0.42161	0.1909831	0.42532	0.2014935	0.42161	0.1909831	0.42531	-8.308	0.63149	D	.	.	0.108	0.20625	B	.	.	4.057367	0.60189	24.2	0.99404336166527296	0.62981	0.99359	0.94992	D	AEFBI	0.935095	0.92944	D	0.109103366629041	0.46887	2.922306	0.255861589188754	0.52984	3.469694	0.999999997361386	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	9.602000	0.97623	11.859000	0.98275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.440000	0.27671	0.0:0.0:1.0:0.0	19.312	0.94184	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3370.33	39	chr19	31278852	.	G	C	3370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.94;DP=1618;ExcessHet=0;FS=2.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.16;SOR=0.544	GT:AD:DP:GQ:PL	0/1:114,123:237:99:3384,0,3394	18	0	1	0
chr19	36067375	36067375	A	G	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon6:c.A631G:p.S211G,WDR62:NM_173636:exon6:c.A631G:p.S211G	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0249919464945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868849406	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.008	0.67890	D	0.999	0.77913	D	0.958	0.70027	D	0.000000	0.84330	D	0.079503	0.999593	0.47742	D	2.405	0.69568	M	-0.07	0.63738	T	-3.32	0.70191	D	0.463	0.49965	-0.4013	0.71985	T	0.340	0.70584	T	10	0.41988385	0.56792	T	0.024992	0.47973	T	0.164	0.42212	0.426	0.47185	0.794743456015	0.79283	0.5959413236051808	0.59524	0.243677403061	0.26869	0.641404032707	0.58764	T	0.085149	0.37438	T	0.0869805	0.62847	D	-0.112835	0.62384	T	0.94111430644989	0.61406	D	0.962504	0.85970	D	0.37896279	0.59241	0.33235332	0.59084	0.37896279	0.59242	0.33235332	0.59084	-6.932	0.53536	T	0.567275676202693	0.63465	0.138	0.30130	B	.;.;.	.;.;.	4.940050	0.81522	27.6	0.99821408468593065	0.90414	0.87342	0.46852	D	AEFBCI	0.461643	0.51132	N	0.571793655951702	0.71418	5.647936	0.584717048258379	0.73845	6.037389	0.438000643618635	0.20429	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	3.545000	0.53401	.	.	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.679	0.61949	726	0.54788	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	39	chr19	36067375	.	A	G	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.033;DP=743;ExcessHet=0;FS=0.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.177;SOR=0.59	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1173,0,923	18	0	1	0
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N	.	426	1062	32	2	0	36	0.0166667	.	.	.	549788	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.030303	0.07895	4185.79	34	chr19	38815889	.	C	T	4185.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.65;DP=993;ExcessHet=0.3672;FS=0.822;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.61;SOR=0.627	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1395,0,1507	16	0	3	0
chr19	38876462	38876462	C	T	exonic	RINL	.	nonsynonymous SNV	RINL:NM_001195833:exon3:c.G79A:p.D27N	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0126574457346	.	.	0.0003	0	0	0	0	0	0	0.0005	6.5e-06	1	154602	rs777246039	1.445e-05	1.368e-05	4.28e-06	2.49e-05	0.0002	9.44e-06	7.67e-06	0.0001	0.0001	0	0	0	0	0	0.0002	9.269e-07	1.727e-05	0.0002	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.444	0.13177	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	0.345	0.11182	N	1.9	0.23486	T	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.062594354	0.08026	T	0.012657	0.31427	T	.	.	.	.	0.751272253255	0.74902	0.3525306190000119	0.35167	0.120831655958	0.13605	0.31319758296	0.12390	T	0.001878	0.01289	T	-0.558806	0.00258	T	-0.742903	0.03770	T	.	.	.	.	.	.	0.061367232	0.12700	0.095297694	0.22595	0.061367232	0.12700	0.095297694	0.22594	-4.181	0.26476	T	.	.	0.102	0.18037	B	.	.	1.633036	0.20848	14.94	0.88532758497444886	0.18051	0.33530	0.24850	N	AEFBCI	0.192547	0.31970	N	.	.	.	.	.	.	0.999874801833783	0.44625	0.634777	0.41761	0	0.643519	0.57511	0	0.685742	0.62368	0	0.638833	0.57524	0	.	.	4.51	3.47	0.38831	1.199000	0.31842	-0.022000	0.12912	0.549000	0.26987	0.685000	0.28485	0.000000	0.08366	0.006000	0.07323	0.0:0.8971:0.0:0.1029	8.978	0.35107	616	0.66398	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1354.33	38	chr19	38876462	.	C	T	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.509;DP=757;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.986;SOR=0.582	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1368,0,1561	18	0	1	0
chr19	39393633	39393633	G	C	exonic	MED29	.	nonsynonymous SNV	MED29:NM_001317770:exon3:c.G356C:p.C119S,MED29:NM_017592:exon3:c.G356C:p.C119S	.	437	1069	16	0	0	16	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0177117568816	0.0002	0.000599042	0.0012	9.632e-05	0.0004	0	0	0.0005	0.0022	0.0064	0.0009961	154	154602	rs147500056	0.0006	0.0006	0.0004	0.0009	0.0067	0.0006	0.0006	0.0062	0.0061	2.987e-05	0.0005	0.0038	0	0	0.0035	0.0001	0.0009	0.0067	0.0005	0.0005	0.0004	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	0	0	0.0002	0.0035	0	0	0.0034	0.0004	0.0014	0.0060	0.496	0.07846	T	0.543	0.11656	T	0.001	0.77913	B	0.005	0.88582	B	0.000000	0.84330	D	0.000000	0.999972	0.53665	D	1.445	0.36358	L	.	.	.	0.21	0.04776	N	0.615	0.72120	-0.7194	0.59493	T	0.274	0.64618	T	9	0.012360781	0.00266	T	0.017712	0.39515	T	0.198	0.48105	0.541	0.65304	0.741901172988	0.73958	0.3535081971944932	0.35264	0.315891958324	0.33863	0.887770056725	0.94980	D	0.052754	0.29251	T	-0.138456	0.30136	T	0.0309529	0.72340	D	0.450564682483673	0.30818	T	0.782722	0.58632	T	0.5822886	0.71733	0.4750711	0.69580	0.5822886	0.71734	0.4750711	0.69580	-1.745	0.02350	T	.	.	0.746	0.77475	P	.;.;.;.;.	.;.;.;.;.	3.508065	0.49109	22.7	0.77778989553409417	0.12018	0.98084	0.79462	D	AEFBI	0.947217	0.95753	D	0.127906866548195	0.47767	2.997934	0.186124417103867	0.49086	3.116127	0.999999999967316	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	7.455000	0.79783	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	14.492	0.67235	701	0.57775	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004541	0.000000	0.008152	0.000000	0.000000	0.000000	0.012195	0.011450	0.02632	1145.33	34	chr19	39393633	.	G	C	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.777;DP=711;ExcessHet=0;FS=3.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-0.804;SOR=0.385	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1159,0,754	18	0	1	0
chr19	39886548	39886548	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon17:c.C7631T:p.A2544V	.	433	1018	71	0	0	71	0.0336972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00515845595298	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488096998	0.0035	0.0079	0.0032	0.0039	0.0116	0.0034	0.0034	0.0110	0.0107	0.0003	0.0011	0.0034	0	0.0012	0.0057	0.0032	0.0032	0.0116	0.0017	0.0049	0.0017	0.0017	0.0114	0.0016	0.0015	0.0089	0.0081	0.0003	0.0033	0.0011	0.0018	0	0.0013	0	0.0023	0.0014	0.0114	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9734	0.36474	T	0.134	0.44759	T	9	0.010130703	0.00227	T	0.005158	0.13125	T	.	.	.	.	0.101711395817	0.09552	.	.	.	.	0.418726503849	0.27662	T	0.029995	0.21364	T	-0.267825	0.11999	T	-0.622489	0.10992	T	0.138795583218467	0.16171	T	0.763424	0.38984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.48938	B	.	.	0.425453	0.07959	4.671	0.9942817816041134	0.64130	0.02634	0.07228	N	AEFBI	0.091879	0.18605	N	-1.21281395397476	0.04812	0.2180241	-1.37284189553889	0.03544	0.16553	0.0100883603552678	0.11964	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.71	-7.43	0.01238	-2.249000	0.01270	.	.	0.345000	0.19837	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.1829:0.2137:0.6034	9.409	0.37643	707	0.57054	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.05263	981.83	72	chr19	39886548	.	G	A	981.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.335;DP=1212;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.2;MQRankSum=0.492;QD=6.1;ReadPosRankSum=-0.818;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,16:80:99:0|1:39886548_G_A:469,0,2576:39886548	17	0	2	0
chr19	39902800	39902800	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon9:c.C4028T:p.A1343V	.	455	1049	18	0	0	18	0.00850662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00285830085637	0.0053	0.00938498	0.0119	0.0013	0.0034	0.0003	0.0023	0.0099	0.0220	0.0370	0.0084475	1306	154602	rs1348012630	2.922e-05	0.0006	2.392e-05	3.464e-05	0.0014	2.05e-05	1.772e-05	0.0005	0.0003	0	0	0	0	0	0.0014	1.787e-05	5.534e-05	0.0001	0.0005	0.0029	0.0004	0.0006	0.0054	0.0004	0.0004	0.0037	0.0032	7.257e-05	0	0.0003	0.0006	0	0.0002	0	0.0005	0.0005	0.0054	.	.	.	0.267	0.22561	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.7173	0.59595	T	0.255	0.62552	T	9	0.17046368	0.31710	T	0.002858	0.06015	T	.	.	.	.	0.141422826196	0.13715	.	.	.	.	0.395057082176	0.24379	T	0.063174	0.32109	T	-0.255514	0.13429	T	-0.604804	0.12410	T	0.268280513406498	0.23673	T	0.774123	0.40598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.37216	B	.	.	-0.229694	0.02942	0.432	0.99724211953128816	0.82266	0.06248	0.12238	N	AEFBI	0.173941	0.30105	N	-0.634642969664614	0.17910	0.9256816	-0.948831549672513	0.10950	0.5548555	0.0093999105330754	0.11847	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	2.66	-5.33	0.02503	-1.699000	0.02007	.	.	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.0:0.0:0.3452:0.6548	12.323	0.54320	763	0.50172	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	0.020202	0.015152	0.014986	0.005848	0.000000	0.034483	0.024691	0.030303	0.02632	60.35	19	chr19	39902800	.	G	A	60.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.669;DP=495;ExcessHet=0;FS=17.991;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=31.38;MQRankSum=-1.375;QD=1.21;ReadPosRankSum=2.17;SOR=3.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:74:0|1:39902800_G_A:74,0,1852:39902800	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,26:48:99:0|1:40667975_C_T:992,0,832:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,26:48:99:0|1:40667975_C_T:992,0,832:40667975	1	7	11	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A,C19orf54:NM_001353809:exon1:c.A4G:p.T2A,C19orf54:NM_198476:exon1:c.A4G:p.T2A	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018223	0.000000	0.023529	0.004167	0.125000	0.088235	0.017647	0.032609	0.07895	4577.79	75	chr19	40749800	.	T	C	4577.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.415;DP=1652;ExcessHet=0.3672;FS=1.751;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.756;SOR=0.852	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1587,0,1756	16	0	3	0
chr19	41090175	41090175	G	C	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon3:c.G472C:p.D158H	.	0	1510	11	1	0	13	0.00428619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	.	.	0.00319489	0.0021	0	0.0003	0.0001	0	0	0.0013	0.0215	0.0021733	336	154602	rs200738334	0.0013	0.0014	0.0007	0.0020	0.0228	0.0013	0.0013	0.0220	0.0216	3.035e-05	0	0	2.538e-05	0	0.0030	4.56e-06	0.0007	0.0228	0.0006	0.0006	0.0002	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.405e-05	0	0	0	0.0002	0	0	0	0	0.0172	0.0	0.91255	D	0.001	0.83351	D	0.334	0.33305	B	0.362	0.43260	B	0.147872	0.18067	U	0.562735	1	0.08975	N	0.895	0.22405	L	-0.45	0.69896	T	-1.81	0.42575	N	0.25	0.28264	-0.8221	0.53802	T	0.188	0.53886	T	10	0.0046170056	0.00096	T	.	.	.	0.178	0.44724	0.504	0.59770	0.256793551483	0.25290	0.2733961681766101	0.27252	0.246430277948	0.27182	0.27525344491	0.06840	T	0.06	0.31268	T	-0.424649	0.01598	T	-0.365836	0.37376	T	0.0434485346610734	0.04320	T	0.648535	0.25952	T	0.48815894	0.66393	0.23927554	0.49272	0.48815894	0.66394	0.23927554	0.49271	-6.049	0.46687	T	.	.	0.152	0.33550	B	.	.	0.812459	0.11832	8.403	0.71013201195494169	0.09486	0.12053	0.17030	N	AEFDBHCI	0.070603	0.14022	N	-1.80593987658801	0.00531	0.02284989	-1.90586960964476	0.00477	0.02111125	0.998734444176896	0.37559	0.685219	0.55550	0	0.563428	0.19063	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	3.43	-2.38	0.06243	0.180000	0.16672	-0.245000	0.10556	-2.032000	0.00429	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1725:0.2408:0.5867:0.0	7.511	0.26744	730	0.54327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	888.33	34	chr19	41090175	.	G	C	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.126;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=1.01;SOR=0.631	GT:AD:DP:GQ:PL	0/1:29,34:63:99:902,0,729	18	0	1	0
chr19	42272727	42272727	C	T	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.C944T:p.P315L,CIC:NM_001379480:exon2:c.C944T:p.P315L,CIC:NM_001379482:exon2:c.C944T:p.P315L	.	447	1071	3	1	0	5	0.00232883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142705908083	.	0.000199681	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs549319050	4.053e-05	5.725e-05	1.645e-05	6.392e-05	0.0020	2.147e-05	1.592e-05	0.0009	0.0006	0	0	0	0	9.591e-05	0	6.315e-06	6.104e-05	0.0020	0.0001	0.0001	8.997e-05	0.0002	0.0023	8.663e-05	7.255e-05	0.0013	0.0010	4.816e-05	0	6.536e-05	0	0	0.0003	0	4.412e-05	0	0.0023	.	.	.	0.291	0.20944	T	.	.	.	.	.	.	.	.	.	.	0.982598	0.24951	N	.	.	.	-5.01	0.98544	D	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.056588054	0.06366	T	0.142706	0.82506	D	.	.	.	.	0.743446234346	0.74114	.	.	.	.	.	.	.	0.01098	0.09851	T	0.0342519	0.56289	T	-0.188576	0.55723	T	.	.	.	0.59804	0.22252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04764	B	.	.	2.158366	0.27497	17.48	0.6432781144743408	0.07463	0.39123	0.26142	N	AEFBCI	0.064360	0.12493	N	.	.	.	.	.	.	0.998089954543314	0.36406	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	3.93	2.86	0.32427	1.255000	0.32512	2.575000	0.33385	0.599000	0.40250	0.135000	0.23427	0.171000	0.23343	0.659000	0.32940	0.2229:0.7771:0.0:0.0	8.894	0.34612	658	0.62094	Domain of unknown function DUF4819	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	851.33	35	chr19	42272727	.	C	T	851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.54;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.013;SOR=0.72	GT:AD:DP:GQ:PL	0/1:39,27:66:99:865,0,1038	18	0	1	0
chr19	42916256	42916256	G	C	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C296G:p.T99R,PSG6:NM_002782:exon2:c.C296G:p.T99R	.	10	1498	14	0	0	14	0.00465116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0026	0.00499201	0.0047	0.0008	0.0008	0	0.0003	0.0034	0.0055	0.0195	0.0044695	691	154602	rs143569741	0.0046	0.0046	0.0042	0.0049	0.0195	0.0045	0.0044	0.0187	0.0184	0.0007	0.0012	0.0011	5.044e-05	0.0003	0.0038	0.0041	0.0044	0.0195	0.0027	0.0027	0.0025	0.0028	0.0169	0.0025	0.0024	0.0139	0.0128	0.0010	0.0066	0.0008	0.0006	0	0.0003	0	0.0038	0.0028	0.0169	0.042	0.41637	D	0.069	0.43913	T	0.005	0.30614	B	0.024	0.41696	B	.	.	.	.	1	0.08975	N	2.625	0.76847	M	-0.25	0.67011	T	-3.06	0.72820	D	0.148	0.18920	-0.7183	0.59546	T	0.264	0.63480	T	9	0.0034293234	0.00060	T	.	.	.	0.086	0.25016	.	.	0.192905019026	0.18896	0.14506165333442325	0.14429	.	.	.	.	.	0.059195	0.31049	T	-0.449284	0.01140	T	-0.415807	0.31556	T	0.0544640921644639	0.06267	T	0.682432	0.29103	T	0.17627425	0.38532	0.13637933	0.32628	0.17627425	0.38531	0.13637933	0.32627	-7.364	0.56650	T	.	.	0.073	0.10835	B	.;.;.;.	.;.;.;.	0.006133	0.04325	1.097	0.90573760340463183	0.19828	0.00464	0.02234	N	AEFGI	0.040070	0.05907	N	-0.932405512763169	0.10090	0.4805695	-1.08778951031158	0.07940	0.3882797	3.33166649766369E-4	0.06583	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.24	-0.0342	0.13225	-2.360000	0.01163	-14.273000	0.00412	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.409:0.0:0.591:0.0	3.946	0.08844	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003821	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.015504	0.02632	6291.33	33	chr19	42916256	.	G	C	6291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.44;DP=3688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.477;QD=12.68;ReadPosRankSum=0.097;SOR=0.683	GT:AD:DP:GQ:PL	0/1:259,237:496:99:6305,0,7143	18	0	1	0
chr19	45348072	45348072	C	T	exonic	KLC3	.	nonsynonymous SNV	KLC3:NM_177417:exon5:c.C691T:p.R231C	.	418	1102	2	0	0	2	0.000906618	.	.	.	3452338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.159609576614	7.7e-05	.	0.0004	0.0006	0	0.0002	0	0.0001	0	0.0014	0.0001552	24	154602	rs375917528	9.309e-05	9.44e-05	7.402e-05	0.0001	0.0006	8.022e-05	7.491e-05	0.0005	0.0004	9.023e-05	2.328e-05	0	7.664e-05	0	0	6.324e-05	0.0001	0.0006	5.913e-05	5.91e-05	7.708e-05	4.035e-05	0.0004	3.077e-05	2.21e-05	7.285e-05	3.027e-05	9.65e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.002	0.83351	D	0.034	0.20480	B	0.013	0.16460	B	0.000178	0.48594	D	0.081040	0.999863	0.50061	D	1.245	0.31408	L	0.69	0.51714	T	-5.01	0.82450	D	0.556	0.58798	-1.0042	0.28696	T	0.088	0.34023	T	10	0.09420344	0.16730	T	0.15961	0.83978	D	0.114	0.32008	.	.	0.560228584591	0.55684	0.6121561658443477	0.61147	0.0643067780988	0.07168	0.730396389961	0.71564	T	0.525515	0.83485	D	-0.365866	0.03809	T	-0.385047	0.35131	T	0.18724508054785	0.19680	T	0.866613	0.56692	D	0.590508	0.72178	0.37259114	0.62464	0.590508	0.72179	0.37259114	0.62464	-11.369	0.82074	D	.	.	0.424	0.68235	A	.;.;.;.;.	.;.;.;.;.	5.674132	0.92956	33	0.99867812666052769	0.94547	0.77855	0.38330	D	AEFDBCI	0.523696	0.54719	D	-0.274127952107889	0.30151	1.67852	-0.187514263725576	0.31994	1.81596	0.928132412965094	0.26917	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	3.24	2.2	0.26966	2.495000	0.44997	1.332000	0.25676	0.580000	0.29708	1.000000	0.71638	0.988000	0.31051	0.978000	0.57271	0.2318:0.6431:0.0:0.1251	4.035	0.09209	917	0.20147	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1070.33	34	chr19	45348072	.	C	T	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.908;SOR=0.668	GT:AD:DP:GQ:PL	0/1:30,38:68:99:1084,0,744	18	0	1	0
chr19	45770512	45770512	G	A	exonic	DMPK	.	nonsynonymous SNV	DMPK:NM_001288765:exon13:c.C1595T:p.A532V,DMPK:NM_001081562:exon15:c.C1847T:p.A616V	Myotonic dystrophy 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.148396511481	.	0.000998403	0.0022	0	0	0	0	0.0002	0	0.0046	0.0002781	43	154602	rs531756343	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	2.802e-05	0	2.798e-05	0	0.0009	8.343e-06	0.0003	0.0048	0.0002	0.0002	6.422e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0060	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.99666	0.43340	D	.	.	.	-0.33	0.68329	T	-0.77	0.21429	N	0.104	0.10769	-1.0542	0.13251	T	0.135	0.44933	T	8	0.005459368	0.00120	T	0.148397	0.83032	D	0.122	0.33800	.	.	0.549249573952	0.54581	.	.	.	.	.	.	.	.	.	.	-0.262024	0.12665	T	-0.148065	0.59414	T	0.0739941283604596	0.09201	T	0.482252	0.14601	T	.	.	.	.	.	.	.	.	-4.563	0.31703	T	.	.	0.080	0.07889	B	.;.;.	.;.;.	0.893882	0.12673	9.198	0.98345346053517269	0.40487	0.12524	0.17321	N	ALL	0.147224	0.27085	N	-0.862451051455916	0.11746	0.5685043	-0.870956801713305	0.12785	0.6596362	0.999999999997198	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.06	1.89	0.24700	0.288000	0.18695	2.195000	0.31239	-0.208000	0.08445	0.000000	0.06391	0.978000	0.30204	0.045000	0.14751	0.1101:0.1986:0.6913:0.0	5.650	0.16888	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	765.33	36	chr19	45770512	.	G	A	765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=722;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-1.963;SOR=0.89	GT:AD:DP:GQ:PL	0/1:53,30:83:99:779,0,1382	18	0	1	0
chr19	47754612	47754612	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon7:c.C851T:p.T284M	.	442	1024	49	7	0	63	0.0298437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0048	0.00279553	0.0136	0.0016	0.0076	0	0	0.0152	0.0192	0.0152	0.0034217	529	154602	rs200463741	0.0066	0.0065	0.0063	0.0069	0.0262	0.0065	0.0064	0.0222	0.0207	0.0011	0.0041	0.0135	2.791e-05	0.0013	0.0262	0.0065	0.0078	0.0135	0.0047	0.0048	0.0048	0.0046	0.0126	0.0044	0.0043	0.0101	0.0092	0.0007	0	0.0045	0.0121	0.0002	0.0008	0.0238	0.0071	0.0090	0.0126	0.108	0.29420	T	0.025	0.56192	D	0.927	0.51527	P	0.498	0.47596	P	0.168490	0.03092	N	1.781030	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.21	0.10308	N	0.163	0.17140	-1.0168	0.24755	T	0.073	0.29675	T	10	0.009180903	0.00207	T	.	.	.	0.041	0.10877	.	.	0.341696514166	0.33777	0.12463098791776257	0.12389	0.469969455627	0.46289	0.332075119019	0.15247	T	0.025983	0.19322	T	-0.613896	0.00120	T	-0.643564	0.09412	T	0.0283586252326964	0.01741	T	0.693531	0.30321	T	0.013671488	0.00066	0.027146567	0.00847	0.013671488	0.00066	0.027146567	0.00847	-5.807	0.44635	T	.	.	0.082	0.08657	B	.	.	1.784252	0.22686	15.72	0.99572906523437688	0.72501	0.08317	0.14262	N	AEFDBHCI	0.136783	0.25756	N	-0.494089786967939	0.22273	1.188187	-0.652737263232716	0.18147	0.9681613	0.0370203101049433	0.14274	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.87	1.65	0.23015	-0.020000	0.12466	-1.828000	0.04652	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6466:0.2284:0.125	4.672	0.12077	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.034557	0.024691	0.022535	0.041935	0.000000	0.028302	0.033333	0.064885	0.07895	2181.79	33	chr19	47754612	.	C	T	2181.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.23;DP=765;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.083;SOR=0.697	GT:AD:DP:GQ:PL	0/1:40,27:67:99:594,0,1047	16	0	3	0
chr19	48161460	48161460	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289063:exon3:c.C65T:p.P22L,LIG1:NM_001320971:exon3:c.C65T:p.P22L,LIG1:NM_000234:exon4:c.C155T:p.P52L,LIG1:NM_001289064:exon4:c.C155T:p.P52L,LIG1:NM_001320970:exon4:c.C155T:p.P52L	DNA ligase I deficiency (3)	404	1117	1	0	0	1	0.000447427	.	.	.	1965168	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.117974408111	.	0.000399361	9.073e-05	0	8.651e-05	0.0008	0	3.001e-05	0	6.058e-05	9.06e-05	14	154602	rs4987181	3.899e-05	3.899e-05	4.084e-05	3.713e-05	0.0010	3.047e-05	2.783e-05	0.0007	0.0006	2.987e-05	2.236e-05	0	0.0010	1.872e-05	0	7.194e-06	1.656e-05	8.115e-05	5.255e-05	5.25e-05	6.426e-05	4.03e-05	0.0014	2.556e-05	1.83e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0.0002	0.002	0.72154	D	0.023	0.72224	D	0.998	0.90584	D	0.689	0.88582	P	0.000020	0.62929	D	0.117813	0.99995	0.52396	D	2.3	0.65703	M	-0.64	0.72125	T	-3.68	0.71042	D	0.425	0.52208	0.003	0.82323	D	0.489	0.80560	T	10	0.069232434	0.09905	T	0.117974	0.79789	D	0.208	0.49714	.	.	0.715004031016	0.71250	0.44058597349081374	0.43975	0.971680733761	0.73388	0.657754778862	0.61088	T	0.663868	0.89945	D	-0.181514	0.23511	T	-0.135475	0.60507	T	0.373609066528827	0.27936	T	0.952205	0.81731	D	0.24693026	0.47667	0.3069095	0.56715	0.24693026	0.47667	0.3069095	0.56714	-6.431	0.50456	T	.	.	0.147	0.68172	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926506	0.81191	27.5	0.99857266505676412	0.93639	0.87424	0.46959	D	AEFDBI	0.368083	0.45531	N	0.497572307847452	0.66948	5.016739	0.464084846693237	0.65625	4.847638	0.188878324963552	0.17973	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	4.145000	0.57833	9.585000	0.81036	0.671000	0.69459	0.998000	0.41325	1.000000	0.68203	0.706000	0.34326	0.0:0.0:1.0:0.0	13.666	0.61869	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1383.33	39	chr19	48161460	.	G	A	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.352;SOR=0.749	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1397,0,1537	18	0	1	0
chr19	48612943	48612943	C	G	exonic	FAM83E	.	nonsynonymous SNV	FAM83E:NM_017708:exon3:c.G430C:p.E144Q	.	422	1076	24	0	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0036	0.00279553	0.0151	0.0026	0.0030	0	0.0698	0.0198	0.0095	0.0124	0.0035347	92	26028	rs144922959	0.0056	0.0056	0.0055	0.0057	0.0090	0.0055	0.0055	0.0084	0.0082	0.0007	0.0022	0.0021	2.615e-05	0.0199	0.0053	0.0053	0.0048	0.0090	0.0053	0.0053	0.0047	0.0060	0.0065	0.0050	0.0049	0.0060	0.0058	0.0010	0.0307	0.0029	0.0014	0	0.0191	0.0034	0.0065	0.0061	0.0062	0.097	0.30943	T	0.057	0.55341	T	0.251	0.31212	B	0.132	0.33005	B	0.000783	0.41772	N	0.194180	0.564695	0.31228	N	2.285	0.65182	M	2.38	0.15843	T	-1.57	0.37955	N	0.222	0.24883	-1.0529	0.13601	T	0.037	0.15986	T	10	0.008989662	0.00203	T	.	.	.	0.091	0.26358	.	.	0.260735089382	0.25697	0.607910831339999	0.60723	0.291684175593	0.31578	0.400802254677	0.25180	T	0.033081	0.22763	T	-0.546146	0.00308	T	-0.551727	0.17161	T	0.0221097732247113	0.00922	T	0.708229	0.31875	T	0.17021164	0.37583	0.096265286	0.22865	0.17021164	0.37582	0.096265286	0.22865	-6.732	0.52051	T	.	.	0.140	0.30791	B	.;.	.;.	3.268119	0.44723	22.0	0.9961531712173114	0.75052	0.78484	0.38727	D	AEFBCI	0.505119	0.53640	D	-0.128154318384685	0.36169	2.087091	-0.0750261702795989	0.36427	2.119697	0.999999743710461	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.38	4.32	0.50899	1.933000	0.39783	3.998000	0.41048	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.848:0.152:0.0	14.092	0.64522	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006579	0.000000	0.005435	0.000000	0.000000	0.008621	0.003067	0.022727	0.02632	620.33	45	chr19	48612943	.	C	G	620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.495;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.47;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,22:46:99:634,0,708	18	0	1	0
chr19	49211240	49211240	C	T	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon19:c.C2549T:p.P850L,TRPM4:NM_001321281:exon22:c.C3266T:p.P1089L,TRPM4:NM_001321283:exon22:c.C3089T:p.P1030L,TRPM4:NM_001195227:exon23:c.C3176T:p.P1059L,TRPM4:NM_001321282:exon23:c.C2003T:p.P668L,TRPM4:NM_017636:exon24:c.C3611T:p.P1204L	Progressive familial heart block, type IB, Autosomal dominant	0	1510	10	2	0	14	0.00461437	.	.	.	377844	not_provided|not_specified|Conduction_disorder_of_the_heart|Progressive_familial_heart_block_type_IB|Family_history_of_sudden_cardiac_death|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:C2825161|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	0.0022	0.00159744	0.0038	0.0002	0.0032	0.0017	0.0144	0.0051	0.0025	0.0012	0.0027361	423	154602	rs150391806	0.0032	0.0032	0.0032	0.0031	0.0056	0.0031	0.0031	0.0041	0.0035	0.0005	0.0028	0.0053	0	0.0085	0.0056	0.0031	0.0040	0.0019	0.0031	0.0031	0.0029	0.0033	0.0039	0.0029	0.0028	0.0035	0.0034	0.0005	0	0.0032	0.0046	0	0.0101	0.0170	0.0039	0.0033	0.0006	0.212	0.19500	T	0.014	0.63109	D	0.643	0.43436	P	0.106	0.33210	B	1.000000	0.07966	U	0.063246	0.973922	0.42745	D	2.105	0.58435	M	0.4	0.58029	T	-1.81	0.49684	N	0.356	0.43706	-1.0333	0.19395	T	0.052	0.22114	T	10	0.0052702427	0.00115	T	.	.	.	0.066	0.19193	.	.	0.54963036629	0.54620	0.3162248289933597	0.31535	0.76600582791	0.64516	0.485783040524	0.36855	T	0.129644	0.45804	T	-0.432269	0.01436	T	-0.393845	0.34102	T	0.0137080974838715	0.00256	T	0.546745	0.21412	T	0.023863325	0.01163	0.032395322	0.01968	0.021031514	0.00685	0.039202422	0.03959	-4.811	0.34720	T	.	.	0.079	0.13174	B	.;.	.;.	2.565280	0.33231	19.28	0.98493446180827937	0.42120	0.45933	0.27648	N	AEFDBHCI	0.101165	0.20324	N	-0.62552999127538	0.18179	0.941786	-0.62145099700017	0.18943	1.014175	0.999985827701064	0.51787	0.733237	0.96898	0	0.547309	0.14657	0	0.600757	0.32118	0	0.635551	0.53088	0	.	.	4.61	2.49	0.29274	2.030000	0.40728	2.540000	0.33211	-0.182000	0.10109	0.345000	0.25717	0.037000	0.21475	0.020000	0.11549	0.0:0.7815:0.0:0.2185	6.309	0.20362	661	0.61838	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005066	0.010101	0.000000	0.005848	0.000000	0.008772	0.006250	0.007576	0.02632	1302.33	36	chr19	49211240	.	C	T	1302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=758;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=3.13;SOR=0.462	GT:AD:DP:GQ:PL	0/1:71,51:122:99:1316,0,1867	18	0	1	0
chr19	49290251	49290251	C	T	exonic	SLC6A16	.	nonsynonymous SNV	SLC6A16:NM_014037:exon12:c.G2083A:p.G695R	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00499001356206	8.2e-05	0.000798722	0.0008	0.0001	0.0006	0	0	0.0003	0.0011	0.0043	0.0007568	117	154602	rs142309154	0.0004	0.0004	0.0003	0.0005	0.0038	0.0004	0.0003	0.0035	0.0034	2.987e-05	0.0005	7.652e-05	5.038e-05	3.744e-05	0.0016	0.0002	0.0004	0.0038	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0001	0	0	0	0	0.0003	0.0009	0.0033	0.281	0.15458	T	0.675	0.06205	T	0.001	0.07471	B	0.001	0.04355	B	0.000343	0.00575	N	5.708400	1	0.08975	N	-1.04	0.01097	N	-0.89	0.74793	T	-0.09	0.08340	N	0.051	0.02272	-0.9173	0.45918	T	0.175	0.51880	T	10	0.0075016916	0.00171	T	0.00499	0.12598	T	0.084	0.24469	0.423	0.46693	0.393159880135	0.38930	0.09514126781596599	0.09446	0.219569769292	0.24499	0.177281498909	0.00071	T	0.016878	0.13870	T	-0.608366	0.00130	T	-0.646796	0.09180	T	0.0119725130992159	0.00188	T	0.40206	0.10263	T	0.05907532	0.11963	0.06679932	0.13734	0.05907532	0.11962	0.06679932	0.13734	-3.625	0.18219	T	.	.	0.067	0.02578	B	.	.	-0.821076	0.01066	0.046	0.25875510481531577	0.01213	0.00086	0.00577	N	AEFBI	0.023828	0.01384	N	-1.39396868668587	0.02694	0.1193253	-1.41213179256823	0.03130	0.145405	9.28887096942892E-5	0.04910	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	3.29	-0.139	0.12803	-1.967000	0.01598	-2.507000	0.03670	-1.062000	0.01615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5719:0.0:0.4281	6.063	0.19074	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1658.33	37	chr19	49290251	.	C	T	1658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.374;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.453;SOR=0.687	GT:AD:DP:GQ:PL	0/1:65,67:132:99:1672,0,1514	18	0	1	0
chr19	49470337	49470337	G	A	exonic	ALDH16A1	.	nonsynonymous SNV	ALDH16A1:NM_001145396:exon16:c.G2126A:p.G709E,ALDH16A1:NM_153329:exon17:c.G2279A:p.G760E	.	397	1123	2	0	0	2	0.00088968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.0678735282293	.	.	5.831e-05	9.946e-05	8.645e-05	0	0	0	0	0.0003	4.53e-05	7	154602	rs753288641	1.506e-05	1.505e-05	8.171e-06	2.201e-05	0.0002	9.86e-06	8.42e-06	0.0001	0.0001	0	4.473e-05	0	0	0	0.0002	8.994e-07	0	0.0002	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	0.123	0.29029	T	0.85	0.05958	T	0.999	0.77913	D	0.979	0.74454	D	0.009452	0.30355	N	0.297856	0.965987	0.38502	D	-0.305	0.03614	N	-0.9	0.74896	T	-2.42	0.58733	N	0.219	0.34120	-0.2011	0.77643	T	0.437	0.77663	T	10	0.24959779	0.42273	T	0.067874	0.70290	D	0.425	0.73299	0.508	0.60386	0.890244917997	0.88915	0.3539173759415015	0.35305	0.475177538353	0.46692	0.79679274559	0.81475	T	0.218825	0.66576	T	-0.0532515	0.43951	T	-0.0139447	0.69427	D	0.373952776193619	0.27950	T	0.79722	0.45334	T	0.18992525	0.40555	0.22972609	0.48053	0.18992525	0.40554	0.22972609	0.48052	-12.574	0.87822	D	.	.	0.197	0.51763	B	.;.;.	.;.;.	3.872151	0.56223	23.7	0.99616526284898188	0.75172	0.43128	0.27030	N	ALL	0.449767	0.50445	N	0.397616314795085	0.61293	4.328392	0.382882015588587	0.60511	4.239343	0.999999999999977	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	2.684000	0.46618	7.311000	0.58126	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.0:1.0:0.0	14.107	0.64624	769	0.49307	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase 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	.	.	.	.	.	.	.	.	0.05263	4011.81	35	chr19	49470337	.	G	A	4011.81	.	AC=2;AF=0.053;AN=38;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.89;SOR=1.169	GT:AD:DP:GQ:PL	1/1:0,115:115:99:4039,346,0	18	1	0	0
chr19	49616159	49616159	G	A	exonic	PRR12	.	nonsynonymous SNV	PRR12:NM_020719:exon9:c.G5437A:p.G1813R	.	412	1099	11	0	0	11	0.00497963	.	.	.	2818598	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.035	0.00523459104631	.	0.000399361	0.0014	0	0.0017	0	0	0.0007	0	0.0035	0.0004204	65	154602	rs575045686	0.0004	0.0004	0.0004	0.0005	0.0048	0.0004	0.0004	0.0034	0.0029	3.112e-05	0.0004	0	2.724e-05	0	0.0048	0.0003	0.0004	0.0021	0.0003	0.0003	0.0002	0.0004	0.0023	0.0002	0.0002	0.0013	0.0010	2.406e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0023	0.181	0.21884	T	0.138	0.37589	T	0.001	0.07471	B	0.002	0.06944	B	0.056254	0.22575	N	0.325941	0.999494	0.21100	N	0.69	0.16971	N	.	.	.	-1.32	0.32991	N	0.231	0.25989	-1.0909	0.05383	T	0.061	0.25635	T	9	0.009221971	0.00208	T	0.005235	0.13341	T	0.035	0.08770	0.268	0.21576	0.0934897674506	0.08844	0.5002204742617575	0.49943	1.15477031298	0.79331	0.653204441071	0.60441	T	0.007512	0.06912	T	-0.463009	0.00941	T	-0.443715	0.28393	T	0.0362889213210903	0.03032	T	0.727427	0.36376	T	0.06152916	0.12751	0.08645577	0.20030	0.06152916	0.12751	0.08645577	0.20030	.	.	.	.	.	0.231	0.52102	B	.;.	.;.	4.251278	0.64538	24.7	0.99722372962702299	0.82125	0.79106	0.39137	D	AEFBI	0.106450	0.21238	N	-0.38024584700704	0.26174	1.426465	-0.251383694461775	0.29724	1.667626	0.00124049920714649	0.08362	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.81	3.72	0.41857	0.667000	0.24794	7.176000	0.57738	0.526000	0.24426	0.086000	0.22486	1.000000	0.68203	0.291000	0.24285	0.1237:0.0:0.8763:0.0	7.149	0.24776	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003043	0.000000	0.002725	0.002941	0.000000	0.000000	0.006211	0.003788	0.05263	2760.81	34	chr19	49616159	.	G	A	2760.81	.	AC=2;AF=0.053;AN=38;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.67;SOR=1.525	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2788,246,0	18	1	0	0
chr19	51587854	51587854	G	A	exonic	ZNF175	.	nonsynonymous SNV	ZNF175:NM_007147:exon5:c.G1523A:p.C508Y	.	278	1242	2	0	0	2	0.000804505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.0123937457456	.	.	8.258e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs747173349	1.71e-05	1.71e-05	1.089e-05	2.338e-05	0.0003	1.174e-05	9.92e-06	0.0002	0.0001	0	0	0	0	0	0.0003	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.944	0.68059	D	.	.	.	.	0.941988	0.81001	D	3.805	0.95442	H	-2.04	0.85703	D	-9.45	0.98415	D	0.359	0.40063	0.765	0.93973	D	0.794	0.93004	D	9	0.7073883	0.72825	D	0.012394	0.30920	T	0.578	0.82968	0.702	0.83869	0.956658417571	0.95619	0.13001162027430083	0.12926	0.739572658655	0.63175	0.7552703619	0.75226	T	0.386969	0.74800	T	0.00435223	0.52254	T	0.0281543	0.72158	D	0.996057629585266	0.88579	D	0.480052	0.14488	T	0.92535484	0.93774	0.84362096	0.91078	0.92535484	0.93774	0.84362096	0.91079	-13.236	0.90311	D	.	.	0.958	0.87827	P	.	.	4.151438	0.62272	24.4	0.99732603231332839	0.82904	0.21035	0.21258	N	AEFDBHCI	0.892300	0.82910	D	0.717934440363997	0.80809	7.377088	0.519492145729074	0.69303	5.341112	0.999991934377821	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	2.56	2.56	0.29842	8.239000	0.89756	.	.	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	11.264	0.48334	976	0.04745	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1035.33	34	chr19	51587854	.	G	A	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.529;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.202;SOR=0.795	GT:AD:DP:GQ:PL	0/1:44,35:79:99:1049,0,1300	18	0	1	0
chr19	51630310	51630310	A	G	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon1:c.T26C:p.L9P,SIGLEC5:NM_001384709:exon1:c.T26C:p.L9P,SIGLEC5:NM_003830:exon1:c.T26C:p.L9P	.	.	.	.	.	.	.	.	.	.	.	2335793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.542	.	.	.	0.0023	0	0	0	.	0	0	0.0455	4.53e-05	7	154602	rs778734174	0.0008	0.0006	0.0008	0.0008	0.0114	0.0008	0.0007	0.0081	0.0070	0.0003	0.0006	0.0023	0	3.43e-05	0.0114	0.0008	0.0013	0.0005	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0009	0.0008	0.0001	0	0.0006	0.0037	0	0.0002	0.0160	0.0011	0	0.0012	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.974	0.73157	D	.	.	.	.	0.997703	0.81001	D	3.335	0.90898	M	0.07	0.61677	T	.	.	.	0.749	0.74826	-0.3709	0.72934	T	0.374	0.73250	T	9	0.010930002	0.00241	T	.	.	.	.	.	0.789	0.91142	0.789146157882	0.78718	0.3248827059025105	0.32401	.	.	0.75994259119	0.75920	T	0.230329	0.59637	T	-0.157573	0.27136	T	-0.0396526	0.67725	D	0.179999564512428	0.19235	T	0.314968	0.06216	T	0.7530996	0.81048	0.7302631	0.84062	0.7530996	0.81050	0.7302631	0.84063	-9.142	0.68606	D	.	.	.	.	.	.	.	4.193550	0.63219	24.6	0.98720113167820978	0.45186	0.84761	0.43849	D	AEFDGBI	0.304384	0.41210	N	0.502157343738515	0.67218	5.052334	0.3790250892986	0.60274	4.213093	0.72629423438121	0.22991	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.06	3.0	0.33773	4.058000	0.57176	.	.	0.650000	0.52971	1.000000	0.71638	0.996000	0.32793	0.990000	0.65344	0.7871:0.0:0.0:0.2129	6.601	0.21895	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	0.007031	0.000000	0.003676	0.010870	0.000000	0.067568	0.000000	0.000000	0.05263	82.8	9	chr19	51630310	.	A	G	82.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.967;DP=109;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0826;MLEAC=2;MLEAF=0.053;MQ=33.41;MQRankSum=0.967;QD=9.2;ReadPosRankSum=0.431;SOR=0.527	GT:AD:DP:GQ:PL	0/1:4,2:6:46:46,0,120	17	0	2	0
chr19	52115218	52115218	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1946A:p.R649K	.	409	1081	30	2	0	34	0.0154827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0044	0.00419329	0.0049	0.0011	0.0039	0	0.0002	0.0062	0.0088	0.0068	0.0047541	735	154602	rs45622033	0.0057	0.0057	0.0057	0.0058	0.0130	0.0056	0.0056	0.0106	0.0098	0.0007	0.0049	0.0051	0	0.0004	0.0130	0.0063	0.0057	0.0068	0.0042	0.0042	0.0043	0.0041	0.0065	0.0039	0.0038	0.0060	0.0058	0.0008	0	0.0060	0.0046	0	0.0006	0.0204	0.0065	0.0071	0.0064	.	.	.	0.531	0.10069	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.425	0.12573	N	3.22	0.07024	T	.	.	.	0.056	0.02759	-1.0327	0.19586	T	0.023	0.09878	T	8	0.004916489	0.00105	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.03217921690351515	0.03165	0.0669319524144	0.07465	0.216768398881	0.01132	T	8.08E-4	0.00390	T	-0.771328	0.00013	T	-0.876731	0.00682	T	0.00221911122000697	0.00023	T	0.80082	0.44648	T	0.032995433	0.03432	0.04251082	0.05079	0.032995433	0.03432	0.04251082	0.05079	-6.572	0.50839	T	.	.	0.156	0.34536	B	.	.	-0.419110	0.02142	0.206	0.80935089646853298	0.13440	0.00002	0.00064	N	AEFBHCI	0.025855	0.01841	N	-1.6336972419401	0.01105	0.04799848	-1.73896296541276	0.00975	0.04369867	0.0330489298285474	0.14086	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	1.93	-3.85	0.03964	-4.150000	0.00323	.	.	-0.515000	0.04990	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.319:0.2971:0.3839:0.0	5.340	0.15282	988	0.01987	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	0.011581	0.010101	0.017663	0.011696	0.000000	0.017241	0.009146	0.011364	0.05263	2541.83	35	chr19	52115218	.	C	T	2541.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.07;DP=819;ExcessHet=0.119;FS=0.504;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.683;SOR=0.744	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1439,0,1728	17	0	2	0
chr19	53015436	53015443	CCCTCCCC	-	exonic	ERVV-1	.	frameshift deletion	ERVV-1:NM_152473:exon1:c.1346_1353del:p.A449Vfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	235.29	36	chr19	53015435	.	GCCCTCCCC	G	235.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.02;DP=1014;ExcessHet=0;FS=92.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=2.58;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,21:213:99:0|1:53015435_GCCCTCCCC_G:249,0,7927:53015435	18	0	1	0
chr19	53015443	53015443	-	GGGTGGGG	exonic	ERVV-1	.	frameshift insertion	ERVV-1:NM_152473:exon1:c.1353_1354insGGGTGGGG:p.S452Gfs*95	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	259.29	36	chr19	53015443	.	C	CGGGTGGGG	259.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.793;DP=883;ExcessHet=0;FS=89.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=2.15;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,21:205:99:0|1:53015435_GCCCTCCCC_G:273,0,7602:53015435	18	0	1	0
chr19	53381438	53381438	A	G	exonic	ZNF525	.	nonsynonymous SNV	ZNF525:NM_001348156:exon4:c.A859G:p.T287A,ZNF525:NM_001348157:exon4:c.A751G:p.T251A	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.0061901	0.0020	0.0230	0.0006	0	0	1.505e-05	0	0	0.0018564	287	154602	rs10415690	0.0007	0.0007	0.0008	0.0005	0.0233	0.0006	0.0006	0.0219	0.0213	0.0233	0.0011	0	0	0	0.0004	1.072e-05	0.0017	4.746e-05	0.0064	0.0064	0.0066	0.0062	0.0220	0.0061	0.0060	0.0208	0.0204	0.0220	0	0.0033	0	0	0	0	0.0001	0.0033	0	1.0	0.00964	T	0.956	0.03352	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.25	0.06762	T	-1.79	0.47683	N	0.018	0.00252	-0.9818	0.34585	T	0.014	0.05465	T	8	0.003270775	0.00056	T	.	.	.	0.011	0.01250	.	.	0.0482279557977	0.04254	0.00646208546397631	0.00614	0.0722118385532	0.08101	.	.	.	.	.	.	-0.771527	0.00013	T	-0.864102	0.00800	T	0.00587267659308378	0.00064	T	0.186481	0.02066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.27851	B	.;.	.;.	-0.859266	0.00996	0.040	0.49595433310093773	0.04237	0.00987	0.03753	N	AEFGBI	0.028441	0.02505	N	-1.48538583212017	0.01952	0.08573343	-1.6143853695051	0.01570	0.07119045	0.0403177953606743	0.14434	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	1.86	-2.02	0.06981	-2.176000	0.01347	.	.	0.282000	0.18639	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4496:0.0:0.5504:0.0	7.846	0.28586	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3388.33	117	chr19	53381438	.	A	G	3388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=2422;ExcessHet=0;FS=1.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.331;SOR=0.814	GT:AD:DP:GQ:PL	0/1:120,121:241:99:3402,0,3548	18	0	1	0
chr19	54238978	54238978	T	C	exonic	LILRA6	.	nonsynonymous SNV	LILRA6:NM_001360167:exon8:c.A1412G:p.N471S,LILRA6:NM_024318:exon8:c.A1421G:p.N474S	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00057529762878	.	.	0.0002	0.0017	0.0003	0	0	1.501e-05	0	6.101e-05	0.0001423	22	154602	rs147389030	3.355e-05	6.364e-05	2.861e-05	3.854e-05	0.0007	2.568e-05	2.314e-05	0.0005	0.0004	0.0007	0.0002	0	0	0	0.0002	2.699e-06	0.0002	4.642e-05	0.0002	0.0003	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0.0003	0	0	0	0.0102	1.473e-05	0	0	1.0	0.00964	T	0.631	0.07999	T	.	.	.	.	.	.	0.000510	0.00624	N	5.998240	1	0.08975	N	.	.	.	7.05	0.00460	T	0.6	0.03090	N	0.036	0.02462	-0.9533	0.40398	T	0.000	0.00114	T	10	0.013023704	0.00278	T	5.75E-4	0.00233	T	0.040	0.10527	.	.	0.0551355673512	0.04727	0.06075396193350061	0.06015	0.0120316169813	0.01140	.	.	.	0.001787	0.01205	T	-0.605682	0.00135	T	-0.762859	0.03011	T	0.0046834428794682	0.00050	T	0.0604939	0.00441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01092	B	.;.	.;.	-0.765111	0.01178	0.057	0.3220183411008406	0.01854	0.00010	0.00151	N	AEFBI	0.021897	0.01029	N	-1.78516449009808	0.00582	0.02509258	-1.71300359116384	0.01081	0.04853732	1.20491433857484E-4	0.05269	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.59	1.52	0.22158	-0.062000	0.11631	.	.	-0.284000	0.06380	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.0:0.6722:0.0:0.3278	4.901	0.13128	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	.	.	.	.	.	.	.	.	0.02632	3320.33	34	chr19	54238978	.	T	C	3320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=2178;ExcessHet=0;FS=1.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.96;ReadPosRankSum=0.233;SOR=0.582	GT:AD:DP:GQ:PL	0/1:506,164:670:99:3334,0,14003	18	0	1	0
chr19	54240831	54240831	C	G	exonic	LILRA6	.	nonsynonymous SNV	LILRA6:NM_001360167:exon5:c.G946C:p.G316R,LILRA6:NM_024318:exon5:c.G955C:p.G319R	.	.	.	.	.	.	.	.	0.9779	0.83	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0013	0.00359425	0.0008	0.0106	0.0004	0	0	0	0.0012	0	0.0008068	21	26028	rs371118566	0.0001	0.0003	0.0001	8.67e-05	0.0042	9.408e-05	8.89e-05	0.0036	0.0034	0.0042	0.0002	0	0	0	0	0	0.0002	0	0.0011	0.0022	0.0013	0.0010	0.0040	0.0010	0.0009	0.0035	0.0033	0.0040	0	0.0002	0	0	0	0	1.47e-05	0.0014	0	0.01	0.57480	D	0.016	0.61642	D	.	.	.	.	.	.	0.045561	0.23523	N	0.214547	1	0.81001	D	.	.	.	6.79	0.00507	T	-6.51	0.91998	D	0.236	0.26596	-0.9524	0.40555	T	0.007	0.02244	T	9	0.0069912076	0.00159	T	.	.	.	0.094	0.27141	0.675	0.81299	0.130388298395	0.12655	0.3470390334188028	0.34617	2.06502392724	0.94458	.	.	.	0.141961	0.47730	T	-0.53024	0.00383	T	-0.529302	0.19356	T	0.150019981673563	0.17105	T	0.80342	0.45053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.44108	B	.;.	.;.	2.419484	0.31107	18.64	0.81224582278836266	0.13580	0.10545	0.16022	N	AEFI	0.124358	0.24038	N	-0.712876832077353	0.15660	0.7911072	-0.983387990452059	0.10158	0.5098472	0.00252209128091911	0.09503	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.16	-0.134	0.12823	0.007000	0.13074	.	.	-1.218000	0.01343	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7167:0.0:0.2833	6.474	0.21223	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	203.33	43	chr19	54240831	.	C	G	203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.359;DP=1489;ExcessHet=0;FS=4.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.45;MQRankSum=0.347;QD=0.88;ReadPosRankSum=0.038;SOR=0.349	GT:AD:DP:GQ:PL	0/1:204,28:232:99:217,0,6817	18	0	1	0
chr19	54278436	54278436	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon6:c.C734T:p.A245V,LILRB2:NM_001278405:exon6:c.C1082T:p.A361V,LILRB2:NM_001278406:exon6:c.C1082T:p.A361V,LILRB2:NM_001080978:exon7:c.C1082T:p.A361V,LILRB2:NM_001278403:exon7:c.C1082T:p.A361V,LILRB2:NM_005874:exon7:c.C1082T:p.A361V	.	0	1519	2	1	0	4	0.00131492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0042	0.0061901	0.0016	0.0173	0.0010	0	0	7.492e-05	0.0011	6.056e-05	0.0015718	243	154602	rs138762759	0.0006	0.0006	0.0006	0.0005	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0009	0	0	0	0.0029	8.633e-05	0.0014	0.0001	0.0042	0.0043	0.0044	0.0040	0.0147	0.0040	0.0039	0.0138	0.0134	0.0147	0	0.0011	0	0	0	0.0102	7.353e-05	0.0038	0	0.015	0.54683	D	0.088	0.40586	T	.	.	.	.	.	.	0.158392	0.03019	N	1.877260	1	0.08975	N	.	.	.	5.82	0.00657	T	-3.34	0.67129	D	0.08	0.06720	-0.9539	0.40292	T	0.002	0.00497	T	10	0.0046879947	0.00098	T	.	.	.	0.034	0.08419	.	.	0.184867976434	0.18130	0.027166945947835926	0.02666	0.146451787718	0.16529	0.356298804283	0.18846	T	.	.	.	-0.560485	0.00252	T	-0.56555	0.15860	T	0.062318565558968	0.07530	T	0.773423	0.40508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26010	B	.;.;.;.;.	.;.;.;.;.	1.406623	0.18215	13.61	0.99570701160646125	0.72379	0.00786	0.03220	N	AEFBI	0.065398	0.12753	N	-0.507497675419497	0.21837	1.161794	-0.792779507590572	0.14673	0.767832	0.993446396406452	0.33218	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.54	-1.9	0.07248	-0.573000	0.05966	.	.	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1597:0.2331:0.3703:0.2369	0.856	0.01108	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	0.004757	0.000000	0.008152	0.008197	0.000000	0.008621	0.000000	0.000000	0.02632	4527.33	36	chr19	54278436	.	G	A	4527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.19;DP=1023;ExcessHet=0;FS=1.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.53;MQRankSum=3.1;QD=12.86;ReadPosRankSum=-1.401;SOR=0.681	GT:AD:DP:GQ:PL	0/1:182,170:352:99:4541,0,5288	18	0	1	0
chr19	54775392	54775392	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G598A:p.G200S,KIR2DL1:NM_014218:exon4:c.G598A:p.G200S,KIR2DS1:NM_014512:exon4:c.G598A:p.G200S,KIR2DS5:NM_014513:exon4:c.G598A:p.G200S	.	425	1048	49	0	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0070	0.00638978	0.0019	0.0216	0.0007	0	0	6.211e-05	0	0.0001	0.001727	267	154602	rs111277046	0.0006	0.0007	0.0007	0.0005	0.0207	0.0006	0.0006	0.0195	0.0189	0.0207	0.0008	0	0	0	0.0007	6.239e-05	0.0010	0.0002	0.0054	0.0056	0.0057	0.0051	0.0187	0.0051	0.0050	0.0176	0.0171	0.0187	0	0.0018	0	0	0	0	0.0001	0.0024	0.0004	0.001	0.78490	D	0.217	0.28860	T	0.999	0.77913	D	0.912	0.64797	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-4.8	0.81187	D	0.152	0.17002	-0.8802	0.49746	T	0.002	0.00769	T	9	0.0055010617	0.00121	T	.	.	.	0.057	0.16321	.	.	0.310458034454	0.30648	0.19989379502801208	0.19906	1.04360297355	0.75885	0.300670742989	0.10500	T	0.045065	0.27007	T	-0.5975	0.00151	T	-0.61279	0.11760	T	0.0457227073311307	0.04733	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.48008	B	.;.	.;.	2.460036	0.31693	18.82	0.9847287461623232	0.41884	0.00273	0.01482	N	AEFBI	0.035321	0.04525	N	-0.747881428606765	0.14690	0.7339538	-0.97225822960036	0.10410	0.524182	1.6460515239701E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0552	0.13141	0.061000	0.14242	.	.	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2948:0.0:0.7052:0.0	3.457	0.07086	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001615	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.000000	0.05263	4807.83	401	chr19	54775392	.	G	A	4807.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=4827;ExcessHet=0.119;FS=4.697;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.07;MQRankSum=-6.235;QD=9.25;ReadPosRankSum=-1.182;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,148:296:99:.:.:3973,0,3691:.	17	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,80:80:99:.:.:3500,248,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,80:80:99:.:.:3500,248,0:.	0	15	4	0
chr19	55359722	55359722	C	A	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.G1146T:p.R382S	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	.	0.0068	0.00778754	0.0025	0.0224	0.0025	0	0	0	0	0.0001	0.0007115	110	154602	rs73607052	0.0006	0.0006	0.0007	0.0005	0.0233	0.0006	0.0006	0.0219	0.0214	0.0233	0.0012	0	0	0	0.0005	1.112e-05	0.0013	7.573e-05	0.0059	0.0059	0.0059	0.0059	0.0209	0.0056	0.0054	0.0197	0.0193	0.0209	0	0.0013	0	0	0	0	2.941e-05	0.0033	0.0002	0.135	0.26192	T	0.667	0.06365	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.57	0.13552	T	-0.55	0.16799	N	0.043	0.01577	-1.0311	0.20099	T	0.002	0.00526	T	9	0.0033717752	0.00059	T	.	.	.	0.001	0.00016	0.214	0.13354	0.0138822411134	0.00435	0.05037560083367639	0.04980	.	.	0.259576261044	0.04840	T	0.001815	0.01233	T	-0.765382	0.00014	T	-0.855275	0.00896	T	0.00484550234333763	0.00052	T	0.292471	0.05369	T	0.07667782	0.17358	0.04626762	0.06409	0.07667782	0.17358	0.04626762	0.06409	-3.025	0.10453	T	.	.	0.216	0.44514	B	.	.	-0.938161	0.00864	0.030	0.87335932204274713	0.17154	0.01818	0.05656	N	AEFDGBC	0.049168	0.08468	N	-2.0515162011601	0.00164	0.007005013	-2.1641579784188	0.00135	0.005916057	0.999979297838524	0.50053	0.517182	0.21443	0	0.578056	0.33634	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.43	-6.86	0.01516	-2.894000	0.00775	-6.222000	0.01460	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1144:0.2935:0.3188:0.2732	2.197	0.03676	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001085	0.000000	0.009709	0.004202	0.000000	0.000000	0.000000	0.000000	0.02632	1618.33	43	chr19	55359722	.	C	A	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=864;ExcessHet=0;FS=7.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.115;SOR=0.96	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1632,0,1339	18	0	1	0
chr19	55602285	55602285	C	G	exonic	ZNF524	.	nonsynonymous SNV	ZNF524:NM_153219:exon2:c.C173G:p.P58R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0114596281882	.	.	2.089e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs746085607	4.871e-06	5.472e-06	5.524e-06	4.208e-06	5.454e-06	2.03e-06	1.3e-06	1.96e-06	1.29e-06	0	0	0	0	0	0	5.454e-06	1.685e-05	0	1.97e-05	1.97e-05	3.852e-05	0	4.822e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.08	0.41913	T	0.435	0.35719	B	0.052	0.25551	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	3.34	0.06063	T	-2.49	0.54217	N	0.086	0.06322	-0.9770	0.35683	T	0.011	0.04274	T	9	0.09075251	0.15836	T	0.01146	0.29107	T	0.055	0.15663	0.344	0.33788	0.332133492242	0.32818	0.32060164933476404	0.31973	0.619323808948	0.56287	0.422900080681	0.28235	T	0.067719	0.33273	T	-0.395834	0.02466	T	-0.608048	0.12143	T	0.0656320783009711	0.08024	T	0.50295	0.15803	T	0.11581066	0.27323	0.14993261	0.35380	0.11581066	0.27323	0.14993261	0.35379	-3.892	0.22182	T	.	.	0.125	0.35540	B	.;.;.	.;.;.	2.327456	0.29814	18.24	0.97119597661520962	0.32447	0.21517	0.21429	N	AEFBI	0.122112	0.23710	N	-0.603022873375488	0.18852	0.9821442	-0.635689602698136	0.18578	0.9930912	0.999982382945897	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	3.4	3.4	0.38031	0.566000	0.23296	7.215000	0.57832	0.599000	0.40250	0.004000	0.16614	0.998000	0.33993	0.015000	0.10482	0.0:1.0:0.0:0.0	10.502	0.43998	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1331.33	35	chr19	55602285	.	C	G	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=819;ExcessHet=0;FS=5.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.23;SOR=0.634	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1345,0,1633	18	0	1	0
chr19	56209034	56209034	G	A	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1325A:p.C442Y	.	.	.	.	.	.	.	.	.	.	.	2818885	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.329	.	.	0.00319489	0.0007	0.0086	0.0002	0.0001	0	0	0	0	0.0006598	102	154602	rs531838465	0.0002	0.0002	0.0003	0.0002	0.0090	0.0002	0.0002	0.0082	0.0078	0.0090	0.0002	0	0	0	0	2.701e-06	0.0002	0	0.0023	0.0023	0.0021	0.0025	0.0084	0.0021	0.0020	0.0076	0.0073	0.0084	0	0.0004	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999167	0.46223	D	.	.	.	-1.94	0.84919	D	-10.67	0.99143	D	0.362	0.41754	0.250	0.86741	D	0.626	0.86850	D	6	0.006803572	0.00155	T	.	.	.	0.329	0.65126	.	.	0.819998185155	0.81830	0.3739498381256212	0.37308	0.0320622411554	0.03334	.	.	.	0.360376	0.72663	T	-0.26607	0.12198	T	-0.150262	0.59221	T	0.209838992617478	0.20945	T	0.856214	0.54490	D	0.7982305	0.83793	0.62965244	0.78399	0.7982305	0.83794	0.62965244	0.78400	-13.166	0.90035	D	.	.	0.979	0.91974	P	.;.	.;.	3.374172	0.46641	22.3	0.95283838214900585	0.26582	0.89325	0.49722	D	AEFDBI	0.571550	0.57549	D	-0.178788124984375	0.34018	1.936743	-0.302813743432898	0.28008	1.558286	0.967553603086696	0.28986	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	1.96	1.96	0.25203	5.897000	0.69569	.	.	0.509000	0.23192	1.000000	0.71638	0.550000	0.25463	0.007000	0.07825	0.0:0.0:1.0:0.0	9.508	0.38225	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	4312.33	43	chr19	56209034	.	G	A	4312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.61;DP=1066;ExcessHet=0;FS=2.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.32;MQRankSum=-1.341;QD=12.11;ReadPosRankSum=-1.104;SOR=0.576	GT:AD:DP:GQ:PL	0/1:189,167:356:99:4326,0,4790	18	0	1	0
chr19	56221925	56221925	C	T	exonic	ZSCAN5A	.	nonsynonymous SNV	ZSCAN5A:NM_001322077:exon5:c.G790A:p.E264K,ZSCAN5A:NM_001322078:exon5:c.G751A:p.E251K,ZSCAN5A:NM_001322062:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_001322064:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322065:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322066:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322067:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322068:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322070:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322073:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_001322074:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_001322075:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_001322076:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_024303:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322061:exon7:c.G1138A:p.E380K,ZSCAN5A:NM_001322072:exon7:c.G1141A:p.E381K	.	431	1090	0	1	0	2	0.00091659	.	.	.	2328216	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.00735883982493	0.0012	0.000599042	0.0005	9.625e-05	0.0003	0	0	0.0008	0.0011	0.0004	0.0005886	91	154602	rs142761513	0.0008	0.0008	0.0008	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	8.961e-05	0.0007	0	0	0	0	0.0009	0.0010	0.0002	0.0010	0.0010	0.0011	0.0008	0.0028	0.0008	0.0008	0.0021	0.0019	0.0002	0.0219	0.0028	0	0	0	0	0.0011	0	0.0002	0.003	0.68238	D	0.022	0.57587	D	0.666	0.41077	P	0.173	0.35463	B	.	.	.	.	0.991148	0.41318	D	1.395	0.35261	L	1.86	0.24285	T	-3.61	0.69477	D	0.16	0.40665	-1.0821	0.06946	T	0.033	0.14203	T	9	0.0070226192	0.00160	T	0.007359	0.19523	T	0.101	0.28911	.	.	0.292423486923	0.28857	0.060627268416438174	0.06002	0.208460879496	0.23317	0.603184819221	0.53353	T	0.248904	0.61877	T	-0.400365	0.02303	T	-0.388406	0.34739	T	0.105175196064128	0.12916	T	0.892511	0.62902	D	0.35423496	0.57394	0.40377566	0.64823	0.35423496	0.57394	0.40377566	0.64823	-9.179	0.68842	D	.	.	0.667	0.73905	P	.;.;.;.	.;.;.;.	3.443239	0.47909	22.5	0.99792056396856188	0.87750	0.85846	0.45026	D	AEFDBHCI	0.663996	0.63332	D	-0.0594150469024834	0.39183	2.306589	-0.0926302318573303	0.35693	2.068092	0.999828921720338	0.43622	0.656854	0.48797	0	0.653731	0.59785	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	2.83	2.83	0.32150	6.092000	0.71061	.	.	0.328000	0.19510	0.997000	0.40164	0.072000	0.22236	0.506000	0.29152	0.0:1.0:0.0:0.0	11.434	0.49297	952	0.10565	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4023.33	34	chr19	56221925	.	C	T	4023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.67;DP=954;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.313;SOR=0.684	GT:AD:DP:GQ:PL	0/1:166,148:314:99:4037,0,4100	18	0	1	0
chr19	56774905	56774905	C	T	exonic	ZIM2	.	nonsynonymous SNV	ZIM2:NM_001369772:exon11:c.G1367A:p.R456Q,ZIM2:NM_015363:exon11:c.G1367A:p.R456Q,ZIM2:NM_001146326:exon12:c.G1367A:p.R456Q,ZIM2:NM_001146327:exon12:c.G1367A:p.R456Q,ZIM2:NM_001369770:exon12:c.G1367A:p.R456Q,ZIM2:NM_001369771:exon12:c.G1367A:p.R456Q,ZIM2:NM_001369773:exon12:c.G1460A:p.R487Q,ZIM2:NM_001369774:exon12:c.G1460A:p.R487Q	.	.	.	.	.	.	.	.	.	.	.	2344168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.0028908180178	0.0002	.	8.241e-05	0.0002	0.0004	0	0	4.497e-05	0	0	9.06e-05	14	154602	rs199721017	6.841e-05	6.84e-05	7.623e-05	6.05e-05	0.0007	5.713e-05	5.326e-05	0.0005	0.0004	0.0004	0.0007	0	0	0	0	4.676e-05	6.623e-05	0	0.0001	0.0001	0.0001	0.0001	0.0003	8.17e-05	6.726e-05	0.0001	8.29e-05	0.0002	0	0.0003	0	0	0	0	8.818e-05	0	0	.	.	.	0.011	0.64786	D	0.703	0.41913	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.99	0.53851	M	3.53	0.04852	T	.	.	.	0.112	0.11054	-0.9745	0.36235	T	0.011	0.04134	T	8	0.042983502	0.03101	T	0.002891	0.06104	T	.	.	.	.	0.0401082797425	0.02173	0.026136473209981036	0.02564	.	.	.	.	.	0.260619	0.63202	T	-0.52783	0.00396	T	-0.630669	0.10364	T	0.0721373185515404	0.08947	T	0.570643	0.20320	T	0.027720211	0.02005	0.064211145	0.12837	0.027720211	0.02005	0.064211145	0.12836	-4.569	0.31779	T	.	.	0.178	0.38853	B	.;.;.;.	.;.;.;.	1.796721	0.22840	15.78	0.99563864447007822	0.71953	0.03428	0.08560	N	AEFGI	0.059662	0.11285	N	-0.563912576995788	0.20050	1.054073	-0.676612052503004	0.17546	0.9334545	4.72816216035836E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.63	-1.37	0.08582	0.193000	0.16921	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.728000	0.35033	0.1471:0.3163:0.2636:0.2731	0.923	0.01235	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	.	.	.	.	.	.	.	.	0.02632	2784.33	36	chr19	56774905	.	C	T	2784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=859;ExcessHet=0;FS=2.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.946;SOR=0.524	GT:AD:DP:GQ:PL	0/1:89,97:186:99:2798,0,2353	18	0	1	0
chr19	57701723	57701723	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G1226A:p.G409E	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0202073957365	7.7e-05	.	0.0004	0	8.64e-05	0	0.0002	0.0002	0.0011	0.0018	0.0002781	43	154602	rs200045380	0.0003	0.0003	0.0002	0.0003	0.0017	0.0003	0.0002	0.0014	0.0014	5.974e-05	4.472e-05	3.826e-05	0	0.0002	0.0014	0.0002	0.0001	0.0017	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	2.405e-05	0	6.533e-05	0.0003	0	0	0.0034	0.0003	0.0005	0.0025	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.740766	0.29737	N	1.975	0.53506	M	4.74	0.01604	T	-7.42	0.94814	D	0.353	0.39457	-1.1466	0.01130	T	0.021	0.08686	T	9	0.05032745	0.04748	T	0.020207	0.42757	T	0.085	0.24743	.	.	0.467501455318	0.46379	0.05458934458496622	0.05400	0.561225617221	0.52626	0.472633779049	0.35043	T	0.051971	0.29028	T	-0.422674	0.01645	T	-0.386702	0.34939	T	0.268547485065674	0.23685	T	.	.	.	0.6805128	0.76997	0.6098999	0.77309	0.6805128	0.76998	0.6098999	0.77310	-9.169	0.68778	D	.	.	0.885	0.81789	P	.	.	2.737218	0.35844	20.0	0.99684453000077045	0.79507	0.73512	0.35958	D	AEFDBHCI	0.323209	0.42547	N	0.375228211808428	0.60081	4.193425	0.240122464517026	0.52091	3.386222	0.100950631539283	0.16366	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.99	2.99	0.33673	1.546000	0.35787	.	.	0.444000	0.21144	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	12.174	0.53482	976	0.04745	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1720.33	33	chr19	57701723	.	C	T	1720.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.201;DP=790;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.55;SOR=0.806	GT:AD:DP:GQ:PL	0/1:82,66:148:99:1734,0,2363	18	0	1	0
chr19	57908953	57908953	-	CACATTCCCTACAATTGTAAGGTCTTTCCCCAGTGTGAAGTCT	exonic	ZNF417	.	stopgain	ZNF417:NM_001297734:exon3:c.1321_1322insAGACTTCACACTGGGGAAAGACCTTACAATTGTAGGGAATGTG:p.G441Efs*12,ZNF417:NM_152475:exon3:c.1324_1325insAGACTTCACACTGGGGAAAGACCTTACAATTGTAGGGAATGTG:p.G442Efs*12	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0004	0.0004	0	0.0009	0.0023	0	0.0013	0.0002689	7	26028	rs761221912	0.0036	0.0037	0.0037	0.0035	0.0042	0.0035	0.0035	0.0041	0.0041	0.0005	0.0005	0.0005	0	0.0013	0.0010	0.0042	0.0037	0.0025	0.0016	0.0019	0.0019	0.0013	0.0030	0.0014	0.0014	0.0027	0.0025	0.0004	0	0.0004	0.0009	0	0.0008	0	0.0030	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1311.29	34	chr19	57908953	.	C	CCACATTCCCTACAATTGTAAGGTCTTTCCCCAGTGTGAAGTCT	1311.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.555;DP=2486;ExcessHet=0;FS=12.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.69;MQRankSum=0.368;QD=17.03;ReadPosRankSum=1.21;SOR=1.544	GT:AD:DP:GQ:PL	0/1:51,26:79:99:1325,0,2032	18	0	1	0
chr19	58356257	58356257	T	C	exonic	ZNF497	.	nonsynonymous SNV	ZNF497:NM_001207009:exon2:c.A1379G:p.H460R,ZNF497:NM_198458:exon3:c.A1379G:p.H460R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.00197006961969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014965625	7.571e-06	7.525e-06	4.105e-06	1.108e-05	0.0002	4.06e-06	2.97e-06	3.82e-06	2.77e-06	0	0	0	0	0	0.0002	8.118e-06	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.617287	0.30810	N	4.12	0.97420	H	-2.18	0.86722	D	-7.44	0.94872	D	0.408	0.44857	0.488	0.90377	D	0.816	0.93783	D	9	0.88179886	0.87493	D	0.00197	0.03535	T	0.248	0.55615	0.789	0.91142	0.869165155751	0.86789	0.4530318213077178	0.45221	1.02964464637	0.75386	0.744338274002	0.73611	T	0.163236	0.50821	T	0.0819019	0.62261	D	-0.12013	0.61792	T	0.805543739024762	0.46735	D	0.79922	0.44465	T	0.4597152	0.64653	0.3938836	0.64096	0.4597152	0.64654	0.3938836	0.64096	-12.043	0.85060	D	.	.	0.970	0.89728	P	.;.	.;.	2.395207	0.30761	18.54	0.95113050938061205	0.26202	0.73846	0.36120	D	AEFDBCIJ	0.199656	0.32644	N	0.118548306463898	0.47328	2.960086	-0.203818873369474	0.31398	1.776599	0.99999905327472	0.74766	0.455138	0.09556	0	0.759151	0.99529	0	0.0	0.00061	3	0.56751	0.32155	0	.	.	1.14	1.14	0.19817	1.818000	0.38650	-0.080000	0.12189	0.266000	0.18458	1.000000	0.71638	0.017000	0.20586	0.009000	0.08673	0.0:0.0:0.0:1.0	7.722	0.27901	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|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	987.33	33	chr19	58356257	.	T	C	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.111;DP=725;ExcessHet=0;FS=1.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.713;SOR=0.75	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1001,0,1410	18	0	1	0
chr20	1313429	1313429	G	A	exonic	SDCBP2	.	stopgain	SDCBP2:NM_015685:exon1:c.C40T:p.R14X,SDCBP2:NM_001199784:exon5:c.C295T:p.R99X,SDCBP2:NM_080489:exon5:c.C295T:p.R99X	.	416	1072	33	1	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00179712	0.0050	0.0008	0.0039	0	0.0012	0.0058	0.0039	0.0085	0.003564	551	154602	rs141976631	0.0040	0.0040	0.0038	0.0042	0.0125	0.0039	0.0039	0.0101	0.0093	0.0005	0.0034	0.0002	5.092e-05	0.0006	0.0125	0.0041	0.0043	0.0084	0.0032	0.0032	0.0033	0.0030	0.0075	0.0029	0.0029	0.0055	0.0051	0.0007	0	0.0065	0	0	0.0008	0	0.0044	0.0052	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.386	0.42834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124811	0.66851	D	0.411492	0.92479	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;Recessive	High;.;High;High	9.911667	0.99427	44	0.99801038420783295	0.88550	0.84741	0.43829	D	AEFDBCI	0.199958	0.32672	N	0.63374867800298	0.75319	6.285283	0.453379610405084	0.64932	4.760452	0.999997625118918	0.74766	0.685219	0.55550	0	0.61073	0.52368	0	0.674405	0.61402	0	0.604282	0.37693	0	.	.	5.14	4.13	0.47661	2.208000	0.42436	6.178000	0.54590	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.949000	0.49496	0.0:0.0:0.7101:0.2899	10.179	0.42135	887	0.27948	.;.;.;.	.	.	.	.	.	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	0.008105	0.005155	0.012228	0.011696	0.000000	0.000000	0.009317	0.000000	0.02632	762.33	33	chr20	1313429	.	G	A	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.357;DP=688;ExcessHet=0;FS=3.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.56;SOR=1.179	GT:AD:DP:GQ:PL	0/1:31,31:62:99:776,0,730	18	0	1	0
chr20	2865406	2865406	T	C	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.T1750C:p.W584R,VPS16:NM_022575:exon22:c.T2182C:p.W728R	.	429	1043	45	5	0	55	0.0256889	.	.	.	2736087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.688	.	0.0059	0.00359425	0.0068	0.0010	0.0062	0	0.0009	0.0081	0.0077	0.0115	0.0064488	997	154602	rs61729229	0.0057	0.0057	0.0054	0.0061	0.0276	0.0056	0.0056	0.0241	0.0227	0.0018	0.0074	0.0353	2.519e-05	0.0007	0.0276	0.0048	0.0083	0.0113	0.0053	0.0053	0.0052	0.0055	0.0109	0.0050	0.0049	0.0095	0.0090	0.0013	0.0044	0.0109	0.0409	0.0002	0.0006	0.0170	0.0053	0.0147	0.0083	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	0.72	0.50976	T	-13.03	0.99887	D	0.778	0.77507	-0.5647	0.66223	T	0.217	0.57915	T	10	0.017725319	0.00380	T	.	.	.	0.688	0.88632	0.91	0.98190	0.727100791208	0.72467	0.896248764703781	0.89595	0.859348079951	0.68892	0.761442005634	0.76143	T	0.258767	0.62995	T	-0.0480361	0.44744	T	0.167618	0.81267	D	0.0540455955808897	0.06196	T	0.769823	0.39947	T	0.9643266	0.97712	0.9436374	0.98003	0.96964383	0.98227	0.9436374	0.98003	-9.093	0.73558	D	.	.	0.978	0.90664	P	.;.	.;.	5.227488	0.87742	29.3	0.99530452978001271	0.69839	0.93689	0.58911	D	AEFDBCI	0.769772	0.70493	D	0.736808766137726	0.82044	7.666397	0.720030717527245	0.83901	8.144543	0.999996139414198	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.669000	0.67750	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.810	0.62751	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.015609	0.015152	0.023098	0.020468	0.000000	0.017241	0.006098	0.011364	0.05263	4294.83	35	chr20	2865406	.	T	C	4294.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.026;DP=933;ExcessHet=0.119;FS=5.899;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.446;SOR=0.463	GT:AD:DP:GQ:PL	0/1:70,77:147:99:1957,0,1900	17	0	2	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:58,49:123:99:327,0,795	3	0	14	2
chr20	33217630	33217630	G	C	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon1:c.G94C:p.A32P,BPIFA3:NM_178466:exon1:c.G94C:p.A32P	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0002	0.00319489	0.0014	0	0.0010	0	0	0.0010	0.0011	0.0057	0.0013195	204	154602	rs181900900	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0050	0.0003	0.0007	0.0083	2.519e-05	0	0.0047	0.0003	0.0014	0.0056	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0056	0.0001	0	0.0007	0.0061	0	0	0	0.0007	0.0019	0.0083	0.017	0.58626	D	0.014	0.62352	D	0.877	0.68779	P	0.451	0.69275	P	0.165763	0.17523	N	0.481193	0.998	0.22589	N	1.65	0.42232	L	1.75	0.37746	T	-1.1	0.32791	N	0.276	0.33140	-1.0687	0.09701	T	0.112	0.40029	T	10	0.0075567067	0.00172	T	.	.	.	0.123	0.34020	.	.	0.459192005304	0.45545	0.6299885124784714	0.62932	0.0782960899249	0.08811	0.363554656506	0.19902	T	0.030091	0.21412	T	-0.445801	0.01196	T	-0.41191	0.32006	T	0.0636152545167251	0.07724	T	0.648035	0.25918	T	0.25490013	0.48521	0.20711122	0.44955	0.25490013	0.48521	0.20711122	0.44954	-3.708	0.20640	T	.	.	0.147	0.45593	B	.;.	.;.	1.593372	0.20375	14.72	0.99503038794280496	0.68147	0.08710	0.14600	N	AEFDBI	0.086296	0.17498	N	-0.275635036701696	0.30092	1.674727	-0.416724984199146	0.24506	1.342324	1.94871559436246E-4	0.05898	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.36	2.28	0.27583	0.589000	0.23640	1.661000	0.27900	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.011000	0.09372	0.2333:0.0:0.7667:0.0	6.506	0.21391	96	0.96030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3360.83	33	chr20	33217630	.	G	C	3360.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.677;DP=875;ExcessHet=0.119;FS=2.627;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.249;SOR=0.85	GT:AD:DP:GQ:PL	0/1:67,67:134:99:1770,0,1786	17	0	2	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:104,49:158:99:152,0,1634	2	0	17	0
chr20	35000840	35000840	G	C	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon40:c.G5377C:p.A1793P	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.0577459419859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428528880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.087	0.40747	T	.	.	.	.	.	.	0.002674	0.36137	N	0.000000	0.998183	0.44603	D	.	.	.	-1.69	0.82985	D	-2.69	0.57435	D	0.747	0.74644	0.608	0.92000	D	0.723	0.90525	D	10	0.82520413	0.81704	D	0.057746	0.67073	D	0.664	0.87479	.	.	0.748558836882	0.74628	0.9147835442638091	0.91453	0.702002171826	0.61195	0.63285022974	0.57549	T	.	.	.	0.21239	0.75055	D	0.067307	0.74729	D	0.987646460533142	0.78100	D	0.868713	0.57175	D	0.33315483	0.55727	0.5530256	0.74153	0.33315483	0.55727	0.5530256	0.74153	-14.553	0.94715	D	.	.	0.795	0.78496	P	.;.	.;.	5.165101	0.86553	28.9	0.99738311220978948	0.83337	0.95049	0.63252	D	AEFDGBCI	0.871405	0.79278	D	0.766061678986568	0.83945	8.152639	0.68120528230541	0.80953	7.414998	0.999912839909148	0.45857	0.517182	0.21443	0	0.572659	0.20510	0	0.478664	0.07449	1	0.508809	0.08732	0	.	.	4.52	4.52	0.54797	3.451000	0.52727	11.887000	0.98989	0.608000	0.46601	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0852:0.0:0.9148:0.0	11.057	0.47140	613	0.66686	Myosin tail;Myosin tail	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	545.33	36	chr20	35000840	.	G	C	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.392;DP=736;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.061;SOR=0.89	GT:AD:DP:GQ:PL	0/1:31,23:54:99:559,0,912	18	0	1	0
chr20	35147228	35147228	G	A	exonic	EDEM2	.	nonsynonymous SNV	EDEM2:NM_001145025:exon1:c.C31T:p.L11F,EDEM2:NM_018217:exon1:c.C31T:p.L11F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.023927807809	.	.	1.008e-05	0	0	0	0	1.797e-05	0	0	6.5e-06	1	154602	rs759457381	2.075e-06	2.736e-06	2.747e-06	1.394e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.069e-07	0	1.18e-05	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.107	0.91255	T	0.087	0.40747	T	0.005	0.14655	B	0.003	0.12992	B	0.004828	0.33350	N	0.299613	0.906498	0.81001	D	1.7	0.43825	L	0.26	0.65747	T	-0.67	0.19297	N	0.495	0.54059	-0.9842	0.34022	T	0.138	0.45489	T	10	0.2951157	0.47081	T	0.023928	0.46909	T	0.038	0.09825	0.415	0.45380	0.726597022132	0.72417	0.5158897907416949	0.51511	0.361407464868	0.37797	0.568220853806	0.48426	T	0.016002	0.13313	T	-0.0315849	0.47186	T	-0.283146	0.46481	T	0.648172438144684	0.38384	D	0.773923	0.40554	T	0.1351388	0.31373	0.19483423	0.43127	0.1351388	0.31373	0.19483423	0.43126	-5.496	0.44233	T	.	.	0.061	0.05668	B	.;.	.;.	3.313450	0.45536	22.1	0.99206758415242768	0.55442	0.75991	0.37237	D	AEFGBHCIJ	0.610560	0.59934	D	-0.198430497629486	0.33200	1.880853	-0.00820486408936611	0.39343	2.331261	0.999999999999988	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.83	4.88	0.63131	5.068000	0.64193	7.340000	0.58244	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.688000	0.33778	0.0858:0.0:0.9142:0.0	11.078	0.47259	398	0.82839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1692.33	35	chr20	35147228	.	G	A	1692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.1;DP=788;ExcessHet=0;FS=0.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=1.56;SOR=0.822	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1706,0,1157	18	0	1	0
chr20	35619309	35619309	A	C	exonic	SPAG4	.	nonsynonymous SNV	SPAG4:NM_001317931:exon9:c.A677C:p.E226A,SPAG4:NM_003116:exon9:c.A908C:p.E303A	.	432	1089	1	0	0	1	0.000458926	0.9885	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0473203119323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72154	D	0.025	0.63918	D	0.999	0.77913	D	0.989	0.78396	D	0.000022	0.55875	D	0.123818	0.991041	0.41295	D	2.365	0.68172	M	0.92	0.44461	T	-4.29	0.76740	D	0.471	0.50688	-0.5851	0.65415	T	0.240	0.60738	T	10	0.6680449	0.70545	D	0.04732	0.62865	D	0.376	0.69443	0.588	0.71623	0.746029032586	0.74374	0.6658043015368502	0.66517	1.38762659215	0.84917	0.686198115349	0.65158	T	0.104868	0.41482	T	0.0828285	0.62370	D	-0.118799	0.61901	T	0.990841269493103	0.81079	D	0.827917	0.49191	T	0.38637522	0.59774	0.29009596	0.55032	0.38637522	0.59774	0.29009596	0.55031	-7.352	0.56565	T	.	.	0.723	0.73901	P	.;.	.;.	5.753162	0.93392	33	0.99540254624643698	0.70461	0.72989	0.35710	D	ALL	0.592930	0.58845	D	0.619155252667615	0.74387	6.124097	0.563334659907325	0.72332	5.792907	0.999999999680619	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.87	4.87	0.62877	3.267000	0.51279	11.224000	0.89870	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	1.0:0.0:0.0:0.0	11.047	0.47080	469	0.78175	SUN domain|SUN domain;SUN domain|SUN 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	.	.	.	.	.	.	.	.	0.02632	1252.33	41	chr20	35619309	.	A	C	1252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=763;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.872;SOR=0.726	GT:AD:DP:GQ:PL	0/1:62,59:121:99:1266,0,1406	18	0	1	0
chr20	38323898	38323898	A	G	exonic	BPI	.	nonsynonymous SNV	BPI:NM_001725:exon8:c.A785G:p.N262S	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00170310171122	0.0022	0.00239617	0.0017	0.0026	0.0009	0	0.0029	0.0016	0.0022	0.0024	0.0016365	253	154602	rs139584810	0.0015	0.0015	0.0015	0.0016	0.0043	0.0015	0.0014	0.0030	0.0026	0.0031	0.0009	0.0032	0	0.0048	0.0043	0.0012	0.0021	0.0030	0.0021	0.0022	0.0021	0.0022	0.0033	0.0020	0.0019	0.0029	0.0027	0.0033	0	0.0012	0.0023	0	0.0048	0.0034	0.0014	0.0024	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.029538	0.01704	N	2.012320	1	0.08975	N	-2.63	0.00039	N	3.26	0.06681	T	1.17	0.01121	N	0.054	0.02559	-0.9678	0.37652	T	0.004	0.01330	T	10	0.0034344196	0.00060	T	0.001703	0.02830	T	0.021	0.04004	.	.	0.139678290688	0.13603	0.08981823969658775	0.08914	0.0426833663064	0.04603	0.276472866535	0.07006	T	0.004472	0.03877	T	-0.766038	0.00014	T	-0.876815	0.00681	T	0.00544990994680958	0.00059	T	0.517648	0.16858	T	0.06499008	0.13846	0.035359193	0.02772	0.06499008	0.13845	0.035359193	0.02772	-2.254	0.04310	T	.	.	0.063	0.01512	B	.;.;.	.;.;.	-0.575479	0.01640	0.114	0.35810526494828748	0.02268	0.00658	0.02853	N	AEFBI	0.029231	0.02722	N	-2.10126722493207	0.00127	0.005453186	-2.07569084966907	0.00210	0.009270028	0.811745873417657	0.24368	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.5	-7.39	0.01257	-0.054000	0.11783	0.524000	0.19189	-0.762000	0.03503	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3237:0.3327:0.163:0.1806	1.200	0.01767	833	0.38804	Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.005051	0.005435	0.005848	0.000000	0.008621	0.009146	0.011364	0.02632	1953.33	33	chr20	38323898	.	A	G	1953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.585;DP=777;ExcessHet=0;FS=2.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.166;SOR=0.992	GT:AD:DP:GQ:PL	0/1:77,77:154:99:1967,0,1871	18	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	133.23	33	chr20	41100210	.	T	C	133.23	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.272;DP=885;ExcessHet=1.3;FS=188.217;InbreedingCoeff=-0.164;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.601;SOR=8.584	GT:AD:DP:GQ:PL	0/1:34,9:43:23:23,0,655	13	0	5	1
chr20	43460714	43460714	G	A	exonic	SRSF6	.	nonsynonymous SNV	SRSF6:NM_006275:exon6:c.G686A:p.R229Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	3611705	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.00997992054504	.	0.000199681	8.261e-06	0	0	0	0	0	0	6.093e-05	1.29e-05	2	154602	rs556237742	4.86e-05	4.857e-05	4.494e-05	5.23e-05	0.0002	3.929e-05	3.607e-05	6.514e-05	4.759e-05	2.99e-05	0	0	0.0002	0	0	4.859e-05	0	0.0001	3.284e-05	3.281e-05	3.855e-05	2.687e-05	0.0004	1.26e-05	7.98e-06	7.301e-05	3.033e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0004	0.164	0.23360	T	0.091	0.40110	T	0.997	0.70673	D	0.968	0.71741	D	0.000002	0.62929	D	0.000000	0.999933	0.51612	D	1.98	0.53716	M	2.34	0.16351	T	-2.02	0.46503	N	0.43	0.46928	-1.1807	0.00359	T	0.097	0.36315	T	10	0.24261454	0.41460	T	0.00998	0.25968	T	0.143	0.38195	0.319	0.29741	0.291402777868	0.28757	0.5004949447496457	0.49970	0.0884094023239	0.09995	0.685474514961	0.65054	T	0.224739	0.58927	T	-0.199177	0.20923	T	-0.342352	0.40078	T	0.47170078754425	0.31593	T	0.853215	0.53849	D	0.20180833	0.42204	0.13838086	0.33049	0.20180833	0.42204	0.13838086	0.33048	-7.524	0.57779	D	.	.	0.149	0.33039	B	.	.	4.210199	0.63596	24.6	0.99629026857800485	0.75898	0.97169	0.73096	D	AEFDGBCI	0.747993	0.68988	D	0.615153933064941	0.74132	6.081053	0.640388370796669	0.77897	6.768606	1.0	0.98316	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.97	5.97	0.96935	7.489000	0.80266	11.823000	0.97298	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.204	0.93708	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1905.33	35	chr20	43460714	.	G	A	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=808;ExcessHet=0;FS=2.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.21;MQRankSum=-0.918;QD=13.91;ReadPosRankSum=-0.717;SOR=0.903	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1919,0,1596	18	0	1	0
chr20	44160215	44160215	G	C	exonic	JPH2	.	nonsynonymous SNV	JPH2:NM_020433:exon2:c.C572G:p.P191R	Cardiomyopathy, hypertrophic, 17, Autosomal dominant	4	1502	14	2	0	18	0.00595632	.	.	.	198535	not_specified|not_provided|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	.	.	0.000199681	0.0028	0	0	0	.	0.0118	0	0.0014	0.00011	17	154602	rs554853074	0.0004	0.0004	0.0004	0.0005	0.0040	0.0004	0.0004	0.0025	0.0020	0	0.0008	0.0121	0	0	0.0040	0.0002	0.0011	0.0010	0.0005	0.0005	0.0005	0.0006	0.0019	0.0004	0.0004	0.0010	0.0007	4.816e-05	0	0.0004	0.0115	0	0	0.0068	0.0003	0.0019	0.0019	0.519	0.07283	T	0.532	0.10034	T	0.497	0.37095	P	0.067	0.27542	B	0.056375	0.22566	U	0.401730	0.999984	0.18198	N	0.895	0.22405	L	0.22	0.59851	T	-0.5	0.15782	N	0.407	0.44761	-1.0122	0.26228	T	0.124	0.42694	T	10	0.00891152	0.00202	T	.	.	.	0.059	0.16972	.	.	0.799362901421	0.79748	0.27369640426997915	0.27282	.	.	0.842707931995	0.88507	D	0.049581	0.28347	T	-0.435857	0.01368	T	-0.514423	0.20862	T	0.0284015782500203	0.01747	T	0.39926	0.10144	T	0.03127433	0.02936	0.041065972	0.04583	0.03127433	0.02936	0.041065972	0.04583	-4.504	0.30941	T	.	.	0.135	0.29200	B	.	.	2.248725	0.28726	17.89	0.90244641486499277	0.19516	0.37702	0.25821	N	AEFGBI	0.109354	0.21723	N	-0.153429095177155	0.35087	2.011066	-0.0973098166122663	0.35501	2.05466	0.711306782819528	0.22823	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.34	3.34	0.37357	0.838000	0.27225	3.984000	0.40930	0.500000	0.22704	0.998000	0.41325	1.000000	0.68203	0.378000	0.26290	0.1985:0.0:0.8015:0.0	7.110	0.24564	566	0.70798	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	331.33	40	chr20	44160215	.	G	C	331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.15;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.294;SOR=0.569	GT:AD:DP:GQ:PL	0/1:17,13:30:99:345,0,497	18	0	1	0
chr20	49643576	49643576	T	C	exonic	B4GALT5	.	nonsynonymous SNV	B4GALT5:NM_004776:exon4:c.A439G:p.I147V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00593075338668	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs746894463	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	2.698e-06	0	2.319e-05	6.581e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	0.998	0.02320	T	0.019	0.17989	B	0.074	0.28220	B	0.000001	0.84330	D	0.094386	0.999985	0.54805	D	0.285	0.10073	N	2.05	0.20664	T	0.02	0.06739	N	0.374	0.41557	-1.0855	0.06316	T	0.032	0.13811	T	10	0.10286224	0.18878	T	0.005931	0.15460	T	0.061	0.17616	.	.	0.0675242888579	0.06100	0.3922917818900596	0.39144	0.0332987198026	0.03484	0.401377379894	0.25261	T	0.035	0.23545	T	-0.256465	0.13318	T	-0.509317	0.21386	T	0.505723178386688	0.32839	D	0.905809	0.66782	D	0.06438421	0.13656	0.070521176	0.14992	0.06438421	0.13656	0.070521176	0.14992	-2.89	0.09044	T	.	.	0.066	0.02200	B	.	.	2.582105	0.33479	19.35	0.66018701341222163	0.07938	0.97785	0.77116	D	AEFBI	0.556195	0.56632	D	-0.407291604137514	0.25213	1.367059	-0.199671181928365	0.31549	1.786487	0.999999593795746	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	4.35	0.51454	2.755000	0.47219	5.045000	0.46946	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1388:0.8612	12.607	0.55887	908	0.22609	Galactosyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1029.33	37	chr20	49643576	.	T	C	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.911;DP=718;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.716;SOR=0.634	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1043,0,1402	18	0	1	0
chr20	50602474	50602474	C	G	exonic	RIPOR3	.	nonsynonymous SNV	RIPOR3:NM_001290268:exon13:c.G1257C:p.E419D,RIPOR3:NM_080829:exon13:c.G1245C:p.E415D	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0119109144543	0.0049	0.00199681	0.0052	0.0006	0.0004	0	0.0030	0.0080	0.0051	0.0037	0.0050517	781	154602	rs144558424	0.0067	0.0067	0.0069	0.0065	0.0081	0.0066	0.0066	0.0079	0.0079	0.0012	0.0009	0.0005	0	0.0027	0.0002	0.0081	0.0053	0.0027	0.0042	0.0042	0.0045	0.0038	0.0077	0.0039	0.0038	0.0072	0.0070	0.0011	0.0077	0.0012	0.0003	0	0.0018	0	0.0077	0.0014	0.0029	0.324	0.13392	T	0.413	0.14412	T	0.997	0.70673	D	0.965	0.71173	D	0.020935	0.26936	N	0.409722	0.674785	0.30332	N	.	.	.	2.34	0.16351	T	-0.93	0.24898	N	0.318	0.35938	-1.0395	0.17465	T	0.063	0.26136	T	10	0.008121848	0.00184	T	0.011911	0.29998	T	0.100	0.28662	.	.	0.0920862733494	0.08535	0.25541592063235047	0.25455	0.459993664077	0.45558	0.522039055824	0.41913	T	0.115549	0.43422	T	-0.513499	0.00480	T	-0.499351	0.22414	T	0.0357320049059987	0.02934	T	0.742826	0.36203	T	0.06399069	0.13531	0.044538733	0.05791	0.06399069	0.13531	0.044538733	0.05791	-3.596	0.17799	T	.	.	0.193	0.41326	B	.;.	.;.	2.785248	0.36596	20.3	0.99672287853527342	0.78652	0.83814	0.42909	D	AEFDBI	0.431630	0.49384	N	0.354541062756924	0.58978	4.073782	0.265620137404254	0.53542	3.522719	0.0554246765937889	0.15016	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.34	3.39	0.37919	1.670000	0.37118	2.150000	0.30904	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.446000	0.27806	0.0:0.7996:0.0:0.2004	7.307	0.25627	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	821.33	41	chr20	50602474	.	C	G	821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.361;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=-0.361;SOR=0.643	GT:AD:DP:GQ:PL	0/1:19,32:51:99:835,0,463	18	0	1	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A,NFATC2:NM_001258292:exon3:c.G1223C:p.G408A,NFATC2:NM_001258294:exon3:c.G626C:p.G209A,NFATC2:NM_001258295:exon3:c.G626C:p.G209A,NFATC2:NM_001258296:exon3:c.G626C:p.G209A,NFATC2:NM_001258297:exon3:c.G626C:p.G209A,NFATC2:NM_012340:exon3:c.G1283C:p.G428A,NFATC2:NM_173091:exon3:c.G1283C:p.G428A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.202108400602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.732e-05	0.0017	0.0001	8.733e-05	0.0001	8.384e-05	7.919e-05	0.0001	9.607e-05	6.032e-05	0	3.84e-05	2.523e-05	0	0	0.0001	6.668e-05	2.326e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	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	2.9	0.83903	M	-0.68	0.72568	T	-5.56	0.86296	D	0.901	0.91505	0.381	0.88810	D	0.611	0.86246	D	10	0.8972913	0.89084	D	0.202108	0.86802	D	0.869	0.96059	0.673	0.81101	0.917666431197	0.91683	0.8047902846343375	0.80433	1.22105697637	0.81090	0.817002594471	0.84569	D	0.649316	0.89339	D	0.387933	0.89203	D	0.319463	0.89067	D	0.996825218200684	0.90159	D	0.999309	0.99724	D	0.9031787	0.91670	0.80110663	0.88338	0.9031787	0.91671	0.80110663	0.88339	-12.7	0.88324	D	.	.	0.999	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.269992	0.88488	29.6	0.99874407340726401	0.95160	0.98728	0.86094	D	AEFDBHI	0.894554	0.83366	D	0.910105444057895	0.92245	11.31442	0.843453264125031	0.92626	11.53706	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	292.43	34	chr20	51516833	.	C	G	292.43	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.143;DP=1350;ExcessHet=2.0135;FS=168.437;InbreedingCoeff=-0.1676;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.884;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,14:81:2:0|1:51516833_C_G:2,0,1984:51516833	14	0	5	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	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	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,14:81:2:0|1:51516833_C_G:2,0,1984:51516833	4	0	11	4
chr20	62330924	62330924	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon30:c.G3671A:p.R1224H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.123287783346	.	0.000199681	0.0001	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs199705213	1.359e-05	1.3e-05	7.059e-06	2.029e-05	0.0002	8.69e-06	7e-06	5.815e-05	4.345e-05	0	0.0001	0	5.585e-05	2.103e-05	0.0002	1.853e-06	0	0.0001	1.975e-05	1.969e-05	2.574e-05	1.347e-05	0.0002	5.25e-06	2.46e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0.0002	0	0	0	0	0	0.101	0.30375	T	0.066	0.44501	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	U	0.000000	1	0.81001	D	0.55	0.14455	N	2.16	0.19166	T	-2.59	0.55821	D	0.562	0.58629	-0.9565	0.39825	T	0.133	0.44504	T	10	0.47487438	0.60083	T	0.123288	0.80442	D	0.122	0.33800	.	.	0.66188771341	0.65904	0.6004868528897951	0.59979	.	.	0.697080492973	0.66723	T	0.093834	0.39293	T	-0.287504	0.09888	T	-0.414088	0.31756	T	0.889081656932831	0.53975	D	0.747625	0.36808	T	0.29129186	0.52112	0.14795081	0.34993	0.29129186	0.52112	0.14795081	0.34992	-4.878	0.35487	T	.	.	0.088	0.11461	B	.	.	4.819593	0.78483	26.9	0.99946807784342684	0.99913	0.95730	0.65910	D	AEFDBHCI	0.761788	0.69939	D	0.630572056663608	0.75115	6.249622	0.598506415251382	0.74832	6.204719	0.999999999587099	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	5.057000	0.64120	5.747000	0.49606	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.630000	0.32157	0.0:1.0:0.0:0.0	18.314	0.90149	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	75	chr20	62330924	.	C	T	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.007;DP=1515;ExcessHet=0;FS=7.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-2.197;SOR=0.285	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1509,0,1235	18	0	1	0
chr20	63564447	63564447	C	G	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.G2668C:p.E890Q,HELZ2:NM_001037335:exon9:c.G4375C:p.E1459Q	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	.	0.00379393	0.0079	0	0.0052	0	0	0.0007	0	0.0169	0.00152	235	154602	rs539953336	0.0010	0.0010	0.0006	0.0014	0.0149	0.0009	0.0009	0.0142	0.0139	9.267e-05	0.0001	0	2.691e-05	0	0.0030	9.746e-05	0.0011	0.0149	0.0007	0.0007	0.0005	0.0008	0.0165	0.0006	0.0005	0.0136	0.0126	0.0001	0	0.0001	0	0	0	0.0034	0.0001	0.0019	0.0165	0.122	0.45393	T	0.011	0.64786	D	1.0	0.90584	D	0.981	0.78936	D	0.000213	0.47681	D	0.210788	0.997595	0.44019	D	2.26	0.64354	M	1.38	0.34050	T	-2.11	0.48020	N	0.376	0.41754	-0.6316	0.63502	T	0.231	0.59670	T	10	0.009677857	0.00218	T	.	.	.	0.166	0.42578	.	.	0.673997922743	0.67123	0.34262387451745263	0.34175	0.705151260562	0.61369	0.42878484726	0.29042	T	0.035451	0.23723	T	-0.467536	0.00881	T	-0.432036	0.29705	T	0.0442927726831132	0.04474	T	0.773423	0.40508	T	0.33010918	0.55480	0.28658214	0.54667	0.33010918	0.55480	0.28658214	0.54666	-5.837	0.44896	T	.	.	0.126	0.27642	B	.;.	.;.	3.200435	0.43526	21.7	0.99766353593094326	0.85500	0.98094	0.79547	D	AEFGBI	0.464247	0.51283	N	0.499631969884272	0.67070	5.032732	0.415618600524117	0.62536	4.470794	0.999726726594665	0.42220	0.651	0.46895	0	0.694456	0.67091	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.97	4.97	0.65419	3.028000	0.49389	4.200000	0.42462	0.549000	0.26987	0.993000	0.37899	0.998000	0.33993	0.198000	0.21837	0.0:1.0:0.0:0.0	18.209	0.89800	.	.	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001020	0.005208	0.000000	0.002941	0.000000	0.000000	0.000000	0.003846	0.02632	1174.33	76	chr20	63564447	.	C	G	1174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1053;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.143;SOR=1.091	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1188,0,1067	18	0	1	0
chr21	5137388	5137388	C	G	exonic	LOC102724159;PWP2	.	nonsynonymous SNV	LOC102724159:NM_001368238:exon15:c.G1904C:p.R635P,PWP2:NM_005049:exon15:c.G1904C:p.R635P	.	496	1020	6	0	0	6	0.00293255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449662252	0.0004	0.0004	0.0003	0.0004	0.0099	0.0004	0.0003	0.0078	0.0070	0.0007	0.0004	8.391e-05	0	1.941e-05	0.0099	0.0003	0.0010	0.0013	0.0005	0.0005	0.0006	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	9.186e-05	0.0238	7.251e-05	0	0	0	0.0290	0.0005	0	0.0005	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.49783	.	.	.	.	.	.	.	0.019749343	0.00445	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928707	0.73770	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.42706	B	.	.	1.131865	0.15185	11.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.682000	0.37245	-0.674000	0.07920	0.284000	0.18682	1.000000	0.71638	0.000000	0.08366	0.582000	0.30943	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	5320.72	35	chr21	5137388	.	C	G	5320.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.775;DP=1036;ExcessHet=0;FS=1.112;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=37.84;MQRankSum=-4.338;QD=12.35;ReadPosRankSum=-1.67;SOR=0.587	GT:AD:DP:GQ:PL	0/1:189,242:431:99:5334,0,3796	17	0	1	1
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:116,108:224:99:2941,0,2845	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:102,97:199:99:2387,0,2892	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:84,90:174:99:2132,0,2112	3	5	11	0
chr21	21286349	21286349	A	G	exonic	NCAM2	.	nonsynonymous SNV	NCAM2:NM_001352591:exon4:c.A418G:p.S140G,NCAM2:NM_001352593:exon4:c.A418G:p.S140G,NCAM2:NM_001352594:exon4:c.A418G:p.S140G,NCAM2:NM_001352596:exon4:c.A418G:p.S140G,NCAM2:NM_004540:exon4:c.A418G:p.S140G,NCAM2:NM_001352592:exon5:c.A493G:p.S165G,NCAM2:NM_001352597:exon5:c.A493G:p.S165G	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0378054809645	0.0002	0.00119808	0.0010	0.0002	0.0002	0	0	0.0001	0.0011	0.0065	0.0008344	129	154602	rs200645709	0.0005	0.0005	0.0003	0.0007	0.0069	0.0004	0.0004	0.0065	0.0063	0.0004	6.73e-05	3.835e-05	2.521e-05	0	0.0010	3.96e-05	0.0003	0.0069	0.0004	0.0004	0.0002	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	0.0003	0	6.58e-05	0	0	0	0	0.0001	0	0.0068	0.238	0.17821	T	0.0	0.92824	D	0.981	0.59675	D	0.795	0.57940	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.015	0.05111	N	0.84	0.47477	T	-2.72	0.57920	D	0.577	0.59901	-0.9047	0.47481	T	0.129	0.43767	T	10	0.008302569	0.00188	T	0.037805	0.57842	D	0.317	0.63904	.	.	0.518585118908	0.51502	0.7454684276588143	0.74492	0.274254006711	0.29918	0.571255207062	0.48855	T	0.408817	0.76403	T	-0.387007	0.02812	T	-0.32496	0.42028	T	0.0656066769658155	0.08020	T	0.914809	0.72634	D	0.70710593	0.78448	0.46811545	0.69146	0.70710593	0.78450	0.46811545	0.69147	-8.667	0.65530	D	.	.	0.154	0.34071	B	.;.	.;.	4.280044	0.65190	24.8	0.99582614322548413	0.73099	0.99201	0.92723	D	AEFBI	0.922303	0.89707	D	0.43001334575009	0.63078	4.534958	0.511812267429939	0.68785	5.268068	0.999961287425879	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.27	5.27	0.73797	8.399000	0.90081	11.178000	0.88207	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	14.020	0.64063	999	0.00169	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1249.33	46	chr21	21286349	.	A	G	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.463;DP=817;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.65;SOR=0.875	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1263,0,1431	18	0	1	0
chr21	32514918	32514918	C	T	exonic	EVA1C	.	nonsynonymous SNV	EVA1C:NM_001320744:exon6:c.C733T:p.R245C,EVA1C:NM_001286556:exon8:c.C1045T:p.R349C,EVA1C:NM_001320745:exon8:c.C769T:p.R257C,EVA1C:NM_058187:exon8:c.C1054T:p.R352C	.	414	1088	20	0	0	20	0.00910747	.	.	.	2824686	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.059310702192	0.0004	0.00139776	0.0013	0.0002	0.0003	0	0	0.0002	0.0044	0.0079	0.0010673	165	154602	rs140738179	0.0006	0.0006	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0071	5.974e-05	8.944e-05	0	0	1.873e-05	0.0056	0.0001	0.0008	0.0078	0.0003	0.0003	0.0002	0.0005	0.0064	0.0003	0.0002	0.0047	0.0041	9.632e-05	0	0.0002	0	0	9.427e-05	0	0.0002	0	0.0064	0.003	0.68238	D	0.004	0.76473	D	0.972	0.57405	D	0.386	0.44011	B	0.833929	0.09085	N	0.932365	1	0.08975	N	2.455	0.71248	M	0.72	0.50976	T	-2.69	0.60348	D	0.162	0.24010	-0.9615	0.38897	T	0.133	0.44622	T	10	0.003971368	0.00077	T	0.059311	0.67621	D	0.125	0.34456	.	.	0.348764635752	0.34483	0.1997479735440801	0.19891	0.624057549516	0.56626	0.227707535028	0.01802	T	0.062609	0.34113	T	-0.422678	0.01645	T	-0.374234	0.36395	T	0.0331481682805986	0.02497	T	0.868713	0.57175	D	0.2716026	0.50231	0.1502797	0.35449	0.2716026	0.50231	0.1502797	0.35449	-8.344	0.63391	D	.	.	0.116	0.23465	B	.;.;.	.;.;.	2.350888	0.30139	18.34	0.99776970401835641	0.86433	0.07127	0.13153	N	AEFDBI	0.096577	0.19493	N	-0.274995800252365	0.30118	1.676358	-0.422410300280141	0.24340	1.33237	0.999979703514277	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.61	2.65	0.30588	0.670000	0.24838	1.514000	0.27045	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.039000	0.14166	0.3919:0.413:0.1266:0.0684	4.888	0.13072	840	0.37365	EVA1 domain;EVA1 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	0.003539	0.005051	0.004087	0.002924	0.000000	0.000000	0.006135	0.000000	0.05263	3361.83	42	chr21	32514918	.	C	T	3361.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.61;DP=921;ExcessHet=0.119;FS=0.449;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.09;SOR=0.729	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1890,0,1777	17	0	2	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.07895	2912.79	92	chr21	33252732	.	C	G	2912.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.18;DP=972;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.479;SOR=0.709	GT:AD:DP:GQ:PL	0/1:75,51:126:99:1139,0,1808	16	0	3	0
chr21	37121935	37121935	T	C	exonic	TTC3	.	nonsynonymous SNV	TTC3:NM_001330681:exon3:c.T89C:p.I30T,TTC3:NM_001330682:exon3:c.T89C:p.I30T,TTC3:NM_001353936:exon3:c.T89C:p.I30T,TTC3:NM_001001894:exon12:c.T1019C:p.I340T,TTC3:NM_001320703:exon12:c.T1085C:p.I362T,TTC3:NM_001320704:exon12:c.T1019C:p.I340T,TTC3:NM_001330683:exon12:c.T1019C:p.I340T,TTC3:NM_003316:exon12:c.T1019C:p.I340T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0124825034099	.	0.000199681	9.901e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs565122832	3.287e-05	3.352e-05	1.226e-05	5.369e-05	0.0005	2.546e-05	2.251e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.658e-05	0.0005	3.283e-05	3.281e-05	0	6.712e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.238	0.21304	T	0.318	0.33554	T	0.999	0.77913	D	0.991	0.79672	D	0.000022	0.55875	D	0.000000	0.574389	0.32321	D	2.175	0.60977	M	1.18	0.45636	T	-1.06	0.27669	N	0.394	0.43514	-0.8973	0.48264	T	0.118	0.41429	T	10	0.0757463	0.11746	T	0.012483	0.31090	T	0.104	0.29647	0.446	0.50466	0.637519714765	0.63453	0.13715096521318262	0.13639	0.362962845927	0.37937	0.583643436432	0.50598	T	0.016695	0.17012	T	-0.356851	0.04311	T	-0.388458	0.34731	T	0.280738472938538	0.24203	T	0.809319	0.46223	T	0.04787367	0.08254	0.053449895	0.09004	0.04787367	0.08254	0.053449895	0.09003	-3.411	0.15204	T	.	.	0.586	0.68305	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.269520	0.44751	22.0	0.99821336368143421	0.90414	0.70427	0.34586	D	AEFBI	0.103640	0.20759	N	0.326606800872803	0.57516	3.919403	0.355899550784648	0.58865	4.059727	0.228465794838558	0.18437	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.35	3.99	0.45527	1.960000	0.40046	4.087000	0.41779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1643:0.0:0.8357	6.592	0.21847	906	0.23090	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	33	chr21	37121935	.	T	C	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.519;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.604;SOR=0.713	GT:AD:DP:GQ:PL	0/1:55,62:117:99:1448,0,1356	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,20:113:99:0|1:41918930_C_G:280,0,3695:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,20:113:99:0|1:41918930_C_G:280,0,3695:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,20:114:99:0|1:41918930_C_G:277,0,3717:41918930	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,20:113:99:0|1:41918930_C_G:280,0,3675:41918930	10	0	9	0
chr21	44391585	44391585	G	C	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon11:c.G1754C:p.R585P,TRPM2:NM_001320351:exon11:c.G1754C:p.R585P,TRPM2:NM_003307:exon11:c.G1754C:p.R585P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0447060893919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.39820	T	0.213	0.27503	T	0.001	0.12996	B	0.002	0.08700	B	0.218176	0.03435	N	1.645010	1	0.08975	N	1.175	0.29870	L	-0.11	0.64445	T	-2.91	0.62747	D	0.258	0.45803	-0.9815	0.34655	T	0.209	0.56893	T	10	0.13663411	0.25996	T	0.044706	0.61621	D	0.309	0.63055	0.519	0.62066	0.28058544554	0.27657	0.5787414805839569	0.57803	0.203312179577	0.22746	0.315544784069	0.12746	T	0.355078	0.72213	T	0.00127013	0.51829	T	-0.235952	0.51194	T	0.101244606077671	0.12493	T	0.680232	0.28883	T	0.6469023	0.75198	0.3636808	0.61750	0.6469023	0.75200	0.3636808	0.61750	-3.131	0.11656	T	.	.	0.146	0.32299	B	.;.;.;.	.;.;.;.	1.228023	0.16223	12.40	0.92330884350717857	0.21727	0.25762	0.22795	N	AEFDBHCI	0.247317	0.36792	N	-0.836685697514927	0.12380	0.6031045	-0.875989399944844	0.12664	0.6527558	0.98011927572104	0.30100	0.615465	0.37627	0	0.633656	0.55848	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.05	2.25	0.27340	0.002000	0.12962	0.616000	0.20081	-0.177000	0.10537	0.003000	0.16062	0.001000	0.17328	0.002000	0.04165	0.3054:0.0:0.6946:0.0	8.873	0.34488	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	381.33	27	chr21	44391585	.	G	C	381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=637;ExcessHet=0;FS=10.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.543;SOR=2.564	GT:AD:DP:GQ:PL	0/1:11,16:27:99:395,0,222	18	0	1	0
chr22	15710995	15710995	G	C	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon9:c.G1481C:p.S494T	.	423	1096	3	0	0	3	0.00136674	.	.	.	3580913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779170078	2.465e-05	0.0004	1.09e-05	3.856e-05	0.0003	1.805e-05	1.602e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0	7.196e-06	3.315e-05	0.0003	6.567e-05	0.0003	3.854e-05	9.403e-05	0.0013	3.514e-05	2.615e-05	0.0006	0.0004	0	0	6.535e-05	0	0	0	0	4.41e-05	0	0.0013	0.003	0.68238	D	0.253	0.23501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.8	0.25344	T	-1.0	0.26422	N	0.175	0.28381	-1.0267	0.21527	T	0.027	0.11441	T	9	0.034828216	0.01705	T	6.88E-4	0.00418	T	.	.	0.25	0.18757	0.0138822411134	0.00435	0.012820543893616225	0.01241	.	.	0.691581964493	0.65933	T	0.004162	0.03571	T	-0.297998	0.08849	T	-0.66583	0.07878	T	0.0815498456719353	0.10185	T	0.481052	0.14533	T	.	.	.	.	.	.	.	.	-3.762	0.20238	T	.	.	0.094	0.14339	B	.;.	.;.	0.295479	0.06715	3.223	0.69805969305405546	0.09090	0.00403	0.02011	N	AEFI	0.029294	0.02739	N	-1.70659025903079	0.00819	0.03539228	-1.8203145501542	0.00696	0.03100537	1.82287053498263E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-0.456000	0.06829	.	.	-1.647000	0.00831	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4734:0.0:0.3296:0.197	3.004	0.05656	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1199.33	227	chr22	15710995	.	G	C	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.735;DP=4168;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.56;MQRankSum=-2.087;QD=1.35;ReadPosRankSum=-0.361;SOR=0.72	GT:AD:DP:GQ:PL	0/1:752,135:887:99:1213,0,18637	18	0	1	0
chr22	18918346	18918346	G	A	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.C1073T:p.T358M,LOC102724788:NM_001368249:exon11:c.C1397T:p.T466M,LOC102724788:NM_001368250:exon11:c.C1073T:p.T358M,PRODH:NM_016335:exon11:c.C1397T:p.T466M	.	0	1498	23	1	0	25	0.00827541	.	.	YES	19052	Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.0026	.	0.0057	0.0030	0.0035	0.0201	0.0026	0.0032	0.0055	0.0122	0.0050646	783	154602	rs2870984	0.0048	0.0037	0.0047	0.0049	0.0173	0.0046	0.0045	0.0160	0.0154	0.0023	0.0038	0.0106	0.0173	0.0007	0.0079	0.0020	0.0052	0.0058	0.0037	0.0045	0.0035	0.0040	0.0143	0.0031	0.0029	0.0080	0.0062	0.0036	0	0.0038	0.0133	0.0109	0.0014	0.0102	0.0019	0.0026	0.0143	0.01	0.56456	D	0.017	0.60337	D	0.853	0.47048	P	0.352	0.42883	B	0.000032	0.55875	D	0.157576	0.967669	0.38609	A	.	.	.	1.51	0.30937	T	-3.45	0.68764	D	0.449	0.49783	-0.7207	0.59429	T	0.116	0.40942	T	10	0.011515439	0.00251	T	.	.	.	0.161	0.41658	.	.	0.0401082797425	0.02173	0.6173264318784245	0.61664	0.385115291346	0.39804	0.508698225021	0.40040	T	0.353269	0.72058	T	-0.401173	0.02275	T	-0.334754	0.40938	T	0.0778350368241577	0.09707	T	0.952705	0.81989	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32874	B	.;.;.;.	.;.;.;.	4.926528	0.81191	27.5	0.99892332221749813	0.96589	0.89442	0.49909	D	AEFDBI	0.758511	0.69713	D	0.467202557692036	0.65185	4.790913	0.42067817372036	0.62853	4.50817	0.926051994528804	0.26837	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.21	3.1	0.34780	4.616000	0.60900	6.448000	0.55667	0.303000	0.18983	1.000000	0.71638	1.000000	0.68203	0.759000	0.36109	0.0:0.0:0.8108:0.1892	10.854	0.45998	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012639	0.005051	0.012228	0.005882	0.050000	0.034483	0.015528	0.003817	0.05263	1548.83	33	chr22	18918346	.	G	A	1548.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=864;ExcessHet=0.119;FS=5.511;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.89;MQRankSum=-4.343;QD=8.56;ReadPosRankSum=0.943;SOR=1.1	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1324,0,1280	17	0	2	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,179:179:99:.:.:5435,537,0:.	2	12	5	0
chr22	19720192	19720192	A	G	exonic	SEPTIN5	.	nonsynonymous SNV	SEPTIN5:NM_001009939:exon4:c.A343G:p.I115V,SEPTIN5:NM_002688:exon5:c.A316G:p.I106V	.	.	.	.	.	.	.	.	.	.	.	3317721	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.0129220197063	.	.	8.337e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs750343029	6.843e-06	6.84e-06	5.447e-06	8.254e-06	2.319e-05	3.46e-06	2.52e-06	3.85e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	1.656e-05	2.319e-05	3.285e-05	3.283e-05	5.139e-05	1.345e-05	6.541e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.541e-05	0	0	0	0	5.88e-05	0	0	1.0	0.03134	T	1.0	0.01155	T	0.008	0.14655	B	0.16	0.34752	B	0.000000	0.84330	D	0.000000	0.999783	0.49076	D	-0.24	0.03895	N	1.07	0.39586	T	-0.17	0.09627	N	0.312	0.50146	-1.0565	0.12646	T	0.051	0.21728	T	10	0.1095252	0.20436	T	0.012922	0.31907	T	0.085	0.24743	0.55	0.66576	0.231005064126	0.22704	0.7490127476538082	0.74847	0.955832151625	0.72811	.	.	.	0.127106	0.45391	T	-0.250687	0.14014	T	-0.501017	0.22241	T	0.238294959068298	0.22340	T	0.873313	0.58144	D	0.04149321	0.06119	0.05155008	0.08318	0.04149321	0.06119	0.05155008	0.08317	-6.685	0.51697	T	.	.	0.077	0.19032	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.815054	0.55051	23.6	0.81826341969572403	0.13879	0.87808	0.47475	D	AEFDGBHCI	0.442664	0.50030	N	-0.581072146420121	0.19519	1.022257	-0.405736578985348	0.24828	1.361828	0.999999994649114	0.74766	0.706548	0.73137	0	0.0	0.00010	3	0.493711	0.08198	1	0.714379	0.83352	0	.	.	3.89	2.85	0.32333	4.109000	0.57562	9.295000	0.79825	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.9124:0.0:0.0876:0.0	9.243	0.36670	958	0.09170	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1948.33	35	chr22	19720192	.	A	G	1948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.986;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.726;SOR=0.708	GT:AD:DP:GQ:PL	0/1:94,83:177:99:1962,0,2597	18	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:82,24:106:99:760,0,3365	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:85,14:99:99:186,0,2212	9	0	10	0
chr22	24623126	24623126	G	C	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon10:c.G753C:p.E251D,GGT1:NM_013430:exon10:c.G753C:p.E251D,GGT1:NM_013421:exon11:c.G753C:p.E251D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00600105999579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.24	0.24406	T	0.012	0.16265	B	0.03	0.21741	B	0.009004	0.30559	U	0.296342	0.669288	0.33127	D	1.46	0.36832	L	3.06	0.08634	T	-1.96	0.45404	N	0.18	0.20660	-1.0740	0.08556	T	0.017	0.06998	T	10	0.34080076	0.51142	T	0.006001	0.15668	T	0.039	0.10176	0.472	0.54699	0.353785824208	0.34994	0.6613017654218303	0.66067	.	.	0.31980869174	0.13392	T	0.162466	0.50714	T	-0.224382	0.17399	T	-0.560085	0.16370	T	0.20897376537323	0.20899	T	0.840916	0.51656	T	0.28128558	0.51172	0.111431524	0.26879	0.28128558	0.51171	0.111431524	0.26878	-6.789	0.52477	T	.	.	0.123	0.28464	B	.;.;.;.	.;.;.;.	1.524504	0.19571	14.33	0.98838281494584013	0.47068	0.75729	0.37093	D	AEFDBI	0.377154	0.46103	N	-0.388332605157989	0.25883	1.408438	-0.319436045616663	0.27471	1.52458	0.859559951596955	0.25199	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.604944	0.38103	0	.	.	3.67	2.63	0.30420	0.187000	0.16806	1.122000	0.24252	0.651000	0.53179	0.992000	0.37556	1.000000	0.68203	0.355000	0.25773	0.3552:0.0:0.6448:0.0	4.362	0.10643	684	0.59539	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	590.33	31	chr22	24623126	.	G	C	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.389;DP=618;ExcessHet=0;FS=2.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.54;MQRankSum=-1.123;QD=13.73;ReadPosRankSum=-0.373;SOR=0.951	GT:AD:DP:GQ:PL	0/1:17,26:43:99:604,0,429	18	0	1	0
chr22	26616165	26616165	G	T	exonic	CRYBB1	.	nonsynonymous SNV	CRYBB1:NM_001887:exon2:c.C155A:p.A52E	Cataract 17, multiple types	0	1514	6	2	0	10	0.00329164	.	.	.	1291915	Cataract_17_multiple_types	MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.146	0.147467619565	.	0.000798722	0.0006	0	0	0	0	1.499e-05	0.0011	0.0041	0.0004981	77	154602	rs533765538	0.0003	0.0003	0.0002	0.0003	0.0040	0.0002	0.0002	0.0037	0.0035	0	0	0	0	0	0	1.799e-06	0.0003	0.0040	7.878e-05	7.873e-05	2.569e-05	0.0001	0.0025	4.493e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.217	0.19157	T	0.474	0.12107	T	0.002	0.09854	B	0.004	0.10090	B	0.108136	0.19540	U	0.465823	1	0.08975	N	0	0.06538	N	-0.92	0.75108	T	0.29	0.04161	N	0.125	0.11769	-1.0118	0.26353	T	0.195	0.54884	T	10	0.0043132305	0.00087	T	0.147468	0.82949	D	0.146	0.38789	0.326	0.30873	0.479818277033	0.47611	0.64111549455379	0.64046	0.369252935211	0.38454	0.503406047821	0.39302	T	0.038513	0.24867	T	-0.446893	0.01178	T	-0.414441	0.31713	T	0.00885754068946481	0.00110	T	0.221278	0.02853	T	0.079360075	0.18127	0.15448935	0.36257	0.079360075	0.18127	0.15448935	0.36256	-4.855	0.35225	T	0.07140657665154736	0.02840	0.110	0.21163	B	.;.	.;.	0.453531	0.08233	4.975	0.31978565272800363	0.01830	0.01165	0.04195	N	AEFDGBI	0.024493	0.01526	N	-1.86826938970739	0.00399	0.01714069	-1.80201559249826	0.00753	0.03355501	0.99526665000113	0.34034	0.740787	0.97801	0	0.491513	0.07743	0	0.767554	0.98243	0	0.542086	0.14980	0	.	.	3.84	2.8	0.31881	0.852000	0.27417	1.025000	0.23435	-0.955000	0.02012	0.165000	0.23867	0.237000	0.23824	0.005000	0.06747	0.0:0.7064:0.2936:0.0	13.724	0.62229	973	0.05605	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1632.33	40	chr22	26616165	.	G	T	1632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=749;ExcessHet=0;FS=9.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.19;SOR=0.245	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1646,0,1257	18	0	1	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	376.54	96	chr22	27983494	.	C	G	376.54	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-3.531;DP=1659;ExcessHet=1.3;FS=183.163;InbreedingCoeff=-0.2466;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=1.77;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,15:108:28:0|1:27983493_C_G:28,0,3236:27983493	11	0	3	5
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1281.88	98	chr22	27983495	.	C	G	1281.88	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,15:108:28:0|1:27983493_C_G:28,0,3236:27983493	3	0	6	10
chr22	35386919	35386919	G	A	exonic	HMOX1	.	nonsynonymous SNV	HMOX1:NM_002133:exon3:c.G379A:p.E127K	Heme oxygenase-1 deficiency	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0404868811323	.	.	0.0002	0	0	0	0	3.047e-05	0	0.0013	0.0001488	23	154602	rs774342824	4.515e-05	4.583e-05	2.859e-05	6.188e-05	0.0007	3.641e-05	3.322e-05	0.0005	0.0005	2.987e-05	0	0	0	0	0.0002	1.799e-06	4.968e-05	0.0007	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.104	0.51112	T	1.0	0.90584	D	0.94	0.67560	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.395	0.91620	M	1.85	0.24472	T	-3.15	0.64132	D	0.522	0.55193	-0.6361	0.63312	T	0.189	0.53990	T	10	0.37857425	0.54021	T	0.040487	0.59403	D	0.385	0.70194	0.612	0.74535	0.476364732183	0.47263	0.7921535565087376	0.79167	0.207218600624	0.23165	0.601350128651	0.53095	T	0.325708	0.69639	T	-0.164515	0.26068	T	-0.0654389	0.65950	T	0.858907163143158	0.50952	D	0.972903	0.94607	D	0.8613349	0.88188	0.5815945	0.75746	0.8613349	0.88189	0.5815945	0.75747	-11.005	0.79686	D	.	.	0.197	0.43707	B	.;.	.;.	4.940584	0.81535	27.6	0.99913834407880775	0.98238	0.99101	0.91240	D	AEFDGBI	0.950870	0.96492	D	0.496664733260356	0.66893	5.009724	0.412324961363803	0.62332	4.446834	0.999999999999989	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	4.78	0.60666	8.087000	0.89341	8.600000	0.77723	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.1284:0.8716:0.0	16.882	0.85933	958	0.09170	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1353.33	38	chr22	35386919	.	G	A	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.483;SOR=0.659	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1367,0,1361	18	0	1	0
chr22	35410758	35410758	A	C	exonic	MCM5	.	nonsynonymous SNV	MCM5:NM_006739:exon7:c.A767C:p.K256T	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00858644020135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.141	0.34716	T	0.05	0.22331	B	0.112	0.34794	B	0.000018	0.62929	D	0.146725	0.997379	0.43837	D	1.74	0.45129	L	2.46	0.14907	T	-4.06	0.74582	D	0.398	0.47022	-1.0975	0.04407	T	0.042	0.17869	T	10	0.2284407	0.39748	T	0.008586	0.22705	T	0.095	0.27398	0.517	0.61763	0.508672771687	0.50506	0.5671350599437982	0.56641	0.599970325159	0.55094	0.752207815647	0.74772	T	0.309232	0.68128	T	-0.130445	0.31425	T	-0.425152	0.30486	T	0.890423238277435	0.54124	D	0.976602	0.92599	D	0.30747125	0.53566	0.19442132	0.43065	0.30747125	0.53566	0.19442132	0.43064	-8.116	0.61859	D	0.2511603463432727	0.33989	0.182	0.48766	B	.;.;.	.;.;.	3.011066	0.40265	21.1	0.99277670676978569	0.57799	0.77795	0.38293	D	ALL	0.357674	0.44862	N	-0.181791349764637	0.33894	1.928156	-0.0356756469603125	0.38116	2.241113	0.999999998460145	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.32	4.28	0.50183	1.658000	0.36992	5.324000	0.48299	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8564:0.0:0.1436:0.0	9.868	0.40326	946	0.12043	MCM OB domain;MCM OB domain;MCM OB 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	.	.	.	.	.	.	.	.	0.02632	2348.33	34	chr22	35410758	.	A	C	2348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.189;DP=837;ExcessHet=0;FS=1.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.561;SOR=0.885	GT:AD:DP:GQ:PL	0/1:92,89:181:99:2362,0,2537	18	0	1	0
chr22	37723371	37723371	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C815A:p.T272K	Deafness, autosomal recessive 28, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	165838	Autosomal_recessive_nonsyndromic_hearing_loss_28|not_provided	MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00464484305664	0.0012	0.000798722	0.0013	0.0002	0.0004	0	0	0.0022	0	0.0001	0.0013648	211	154602	rs140901235	0.0019	0.0019	0.0019	0.0018	0.0028	0.0018	0.0018	0.0021	0.0021	0.0004	0.0006	0.0043	2.519e-05	9.361e-05	0.0028	0.0022	0.0018	0.0005	0.0012	0.0012	0.0013	0.0011	0.0021	0.0011	0.0010	0.0019	0.0018	0.0003	0	0.0003	0.0032	0	0	0	0.0021	0.0009	0.0008	0.128	0.26965	T	0.018	0.59732	D	0.414	0.35185	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.08	0.20255	T	-0.89	0.24026	N	0.214	0.23884	-1.0299	0.20487	T	0.026	0.11264	T	9	0.0061932504	0.00139	T	0.004645	0.11503	T	0.029	0.06676	.	.	0.339555952218	0.33569	0.07009774652719987	0.06946	0.167212088747	0.18855	0.312932819128	0.12350	T	0.032974	0.22716	T	-0.550518	0.00290	T	-0.568484	0.15589	T	0.00587595227725716	0.00064	T	0.335566	0.07155	T	0.07406218	0.16593	0.07123673	0.15231	0.07406218	0.16593	0.07123673	0.15231	-4.571	0.31805	T	.	.	0.172	0.37783	B	.;.	.;.	0.390479	0.07619	4.284	0.88518785186319515	0.18040	0.17903	0.20036	N	AEFDBI	0.039664	0.05794	N	-0.838717356852208	0.12329	0.6002984	-0.900446420493625	0.12083	0.6195228	0.658293134865331	0.22242	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.586402	0.36253	0	.	.	3.24	2.22	0.27116	1.699000	0.37423	0.585000	0.19752	0.598000	0.34611	0.002000	0.15269	0.160000	0.23254	0.002000	0.04165	0.0:0.8818:0.0:0.1182	8.730	0.33652	910	0.22284	.;.	.	.	.	.	.	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	0.004532	0.000000	0.006793	0.002924	0.000000	0.017241	0.006098	0.000000	0.02632	2737.33	136	chr22	37723371	.	C	A	2737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.35;DP=2155;ExcessHet=0;FS=4.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.063;SOR=0.994	GT:AD:DP:GQ:PL	0/1:120,100:220:99:2751,0,2990	18	0	1	0
chr22	40407266	40407266	C	T	exonic	SGSM3	.	nonsynonymous SNV	SGSM3:NM_001301849:exon11:c.C1117T:p.R373W,SGSM3:NM_001350043:exon11:c.C1105T:p.R369W,SGSM3:NM_001350044:exon11:c.C1117T:p.R373W,SGSM3:NM_001350046:exon11:c.C1105T:p.R369W,SGSM3:NM_001350047:exon11:c.C1105T:p.R369W,SGSM3:NM_001350048:exon11:c.C808T:p.R270W,SGSM3:NM_001350039:exon12:c.C1306T:p.R436W,SGSM3:NM_001350040:exon12:c.C1306T:p.R436W,SGSM3:NM_001350041:exon12:c.C1306T:p.R436W,SGSM3:NM_001350042:exon12:c.C1117T:p.R373W,SGSM3:NM_001350045:exon12:c.C1117T:p.R373W,SGSM3:NM_015705:exon12:c.C1306T:p.R436W	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.139444941226	.	0.000599042	0.0006	0	8.678e-05	0	0	0	0	0.0045	0.000511	79	154602	rs548167730	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0002	0.0039	0.0038	5.974e-05	4.472e-05	0	2.519e-05	0	0.0003	2.158e-05	0.0002	0.0043	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	7.215e-05	0	0	0	0	0	0	2.94e-05	0	0.0062	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000019	0.62929	D	0.116358	1	0.81001	D	2.73	0.79844	M	2.17	0.19020	T	-6.42	0.91268	D	0.887	0.88577	-0.8651	0.50893	T	0.141	0.46035	T	10	0.060114175	0.07334	T	0.139445	0.82192	D	0.377	0.69527	0.466	0.53729	0.319970858106	0.31615	0.7812922865433886	0.78080	0.674172896119	0.59628	0.795959234238	0.81347	T	0.384364	0.74600	T	-0.106566	0.35336	T	0.0745528	0.75214	D	0.267925460727783	0.23658	T	0.986201	0.95317	D	0.73464227	0.79987	0.57844365	0.75570	0.73464227	0.79988	0.57844365	0.75571	-11.493	0.82293	D	.	.	0.785	0.76605	P	.	.	5.505679	0.91630	32	0.99895967007942921	0.96895	0.97019	0.72221	D	AEFBCI	0.818709	0.73990	D	0.294075110675327	0.55847	3.748893	0.222151738031623	0.51078	3.293562	0.999933378173169	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.48	4.47	0.53770	1.997000	0.40406	4.896000	0.45813	-0.178000	0.10482	0.998000	0.41325	1.000000	0.68203	0.795000	0.37519	0.1369:0.8631:0.0:0.0	15.847	0.78680	554	0.71839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2606.33	38	chr22	40407266	.	C	T	2606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=951;ExcessHet=0;FS=9.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.186;SOR=0.319	GT:AD:DP:GQ:PL	0/1:78,95:173:99:2620,0,1792	18	0	1	0
chr22	41149155	41149155	G	A	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon12:c.G2281A:p.G761S,EP300:NM_001429:exon13:c.G2359A:p.G787S	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	257687	Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|not_specified	MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	0.0186976798214	.	0.000399361	0.0003	0.0002	0.0002	0	0	1.498e-05	0	0.0019	0.0002458	38	154602	rs564786569	0.0001	0.0001	6.942e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	8.961e-05	0.0002	0	7.558e-05	0	0.0005	1.169e-05	0.0002	0.0018	0.0001	0.0001	0.0001	0.0001	0.0023	6.523e-05	5.332e-05	0.0013	0.0010	4.827e-05	0	6.555e-05	0	0.0002	0	0	1.471e-05	0	0.0023	0.545	0.06691	T	0.467	0.12351	T	0.614	0.39766	P	0.177	0.35687	B	0.262329	0.15290	N	0.541388	0.999999	0.08975	N	0	0.06538	N	-1.62	0.82347	D	0.08	0.06026	N	0.247	0.27910	-0.7802	0.56291	T	0.209	0.56893	T	10	0.013831556	0.00292	T	0.018698	0.40848	T	0.173	0.43840	0.313	0.28774	0.791059030031	0.78911	0.16855302755779544	0.16775	.	.	0.339284896851	0.16331	T	0.338372	0.70765	T	-0.461073	0.00968	T	-0.441552	0.28634	T	0.0149995088491103	0.00322	T	0.729327	0.34443	T	0.028906114	0.02301	0.04486341	0.05907	0.030345816	0.02682	0.043774564	0.05522	-2.065	0.03436	T	0.0801814176904869	0.04020	0.058	0.00636	B	.	.	2.494504	0.32192	18.97	0.9202276891152873	0.21361	0.51335	0.28872	D	AEFBI	0.067668	0.13314	N	-0.560732323898058	0.20149	1.060039	-0.495576753691855	0.22274	1.20909	0.038073703607303	0.14329	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	-0.572	0.11157	2.496000	0.45006	2.506000	0.33051	0.676000	0.76740	1.000000	0.71638	0.996000	0.32793	0.980000	0.58198	0.6823:0.0:0.3177:0.0	8.441	0.31977	285	0.88719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	985.33	38	chr22	41149155	.	G	A	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.535;DP=794;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-1.153;SOR=0.615	GT:AD:DP:GQ:PL	0/1:59,46:105:99:999,0,1408	18	0	1	0
chr22	42884389	42884389	G	A	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001349974:exon5:c.C659T:p.A220V,PACSIN2:NM_001184970:exon6:c.C782T:p.A261V,PACSIN2:NM_001184971:exon6:c.C782T:p.A261V,PACSIN2:NM_001349968:exon6:c.C782T:p.A261V,PACSIN2:NM_001349969:exon6:c.C782T:p.A261V,PACSIN2:NM_001349970:exon6:c.C782T:p.A261V,PACSIN2:NM_001349971:exon6:c.C782T:p.A261V,PACSIN2:NM_001349972:exon6:c.C782T:p.A261V,PACSIN2:NM_001349973:exon6:c.C782T:p.A261V,PACSIN2:NM_007229:exon6:c.C782T:p.A261V	.	426	1081	14	1	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00758786	0.0054	0.0001	8.642e-05	0	0	0	0.0033	0.0407	0.0046312	716	154602	rs371512988	0.0025	0.0025	0.0014	0.0036	0.0402	0.0024	0.0024	0.0391	0.0387	0.0002	2.318e-05	0	0	0	0.0028	1.621e-05	0.0026	0.0402	0.0011	0.0011	0.0006	0.0017	0.0340	0.0010	0.0009	0.0297	0.0281	4.809e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0340	0.251	0.32296	T	0.257	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	0.196547	0.16709	N	0.638482	0.902093	0.27680	N	0.55	0.14455	N	0.86	0.46777	T	-1.14	0.29323	N	0.187	0.20660	-1.0853	0.06353	T	0.058	0.24279	T	10	0.0025706291	0.00039	T	.	.	.	0.042	0.11227	0.387	0.40788	0.374076547971	0.37021	0.12102410611320182	0.12029	0.333995253611	0.35422	0.287578165531	0.08570	T	0.07842	0.35886	T	-0.593285	0.00160	T	-0.595003	0.13235	T	0.00964490841835265	0.00125	T	0.763624	0.39028	T	0.14006141	0.32329	0.08328184	0.19073	0.14006141	0.32329	0.08328184	0.19073	-5.886	0.45316	T	.	.	0.094	0.14523	B	.;.;.;.;.;.	.;.;.;.;.;.	2.939118	0.39075	20.9	0.98513177286905773	0.42374	0.90827	0.52335	D	AEFDGBI	0.190811	0.31803	N	-0.494908104709387	0.22246	1.186552	-0.335785898918827	0.26953	1.492256	0.999933178920085	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	4.61	0.56724	1.233000	0.32250	8.482000	0.77302	0.672000	0.70159	0.251000	0.24859	1.000000	0.68203	0.743000	0.35541	0.0727:0.0:0.7819:0.1454	9.284	0.36905	745	0.52414	F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.05263	3722.81	34	chr22	42884389	.	G	A	3722.81	.	AC=2;AF=0.053;AN=38;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.24;SOR=1.807	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3750,336,0	18	1	0	0
chr22	45168223	45168223	G	A	exonic	NUP50	.	nonsynonymous SNV	NUP50:NM_007172:exon2:c.G46A:p.D16N	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.028624533217	0.0002	0.000399361	0.0004	0	0.0005	0	0	0.0005	0.0011	0.0008	0.0003881	60	154602	rs200329756	0.0004	0.0004	0.0003	0.0004	0.0071	0.0003	0.0003	0.0054	0.0048	0.0003	0.0006	0.0036	0	0	0.0071	0.0002	0.0007	0.0009	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	2.406e-05	0	0.0003	0.0052	0	0	0.0034	0.0003	0.0014	0.0006	0.087	0.41915	T	0.181	0.92824	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.03	0.55503	M	.	.	.	-2.45	0.77225	N	0.655	0.66529	-0.3179	0.74480	T	0.379	0.73617	T	9	0.030023932	0.01129	T	0.028625	0.51275	D	0.291	0.61040	.	.	0.879945380425	0.87877	0.49857296278270524	0.49778	1.3598936142	0.84301	0.760837972164	0.76053	T	0.500437	0.82103	D	-0.348859	0.04799	T	-0.345375	0.39735	T	0.0672067887736618	0.08253	T	0.947705	0.82069	D	0.49738714	0.66941	0.32702175	0.58603	0.49738714	0.66942	0.32702175	0.58602	-7.934	0.60620	D	.	.	0.448	0.63783	A	.;.;.;.	.;.;.;.	4.617447	0.73285	26.0	0.99031015038463766	0.50808	0.98626	0.84855	D	AEFBI	0.642682	0.61957	D	0.649628321471278	0.76343	6.469283	0.628604231942256	0.77024	6.600774	0.999999992511103	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	4.876000	0.62772	11.682000	0.94235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.941	0.79544	982	0.03397	Nuclear pore complex, NUP2/50/61;Nuclear pore complex, NUP2/50/61;Nuclear pore complex, NUP2/50/61;Nuclear pore complex, NUP2/50/61	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004040	0.005051	0.002717	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1078.33	33	chr22	45168223	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.414;DP=679;ExcessHet=0;FS=0.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-2.391;SOR=0.542	GT:AD:DP:GQ:PL	0/1:27,45:72:99:1092,0,585	18	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	13594.5	82	chr22	49922304	.	C	*	13594.5	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.882;DP=1316;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.13;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,55:118:99:0|1:49922284_CG_C:1851,0,2171:49922284	13	1	5	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1933.34	82	chr22	49922325	.	G	*	1933.34	.	AC=6;AF=0.167;AN=36;BaseQRankSum=1.19;DP=1223;ExcessHet=0.386;FS=1.156;InbreedingCoeff=0.1556;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.36;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,55:118:99:0|1:49922284_CG_C:1851,0,2171:49922284	13	1	4	1
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	15349.3	541	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	15349.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.553;DP=3391;ExcessHet=1.3;FS=51.291;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=50.75;MQRankSum=-0.745;QD=16.7;ReadPosRankSum=3.74;SOR=1.95	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,83:146:99:.:.:3016,0,2357:.	14	0	5	0
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	6010.59	367	chrX	7843933	.	A	*	6010.59	.	AC=2;AF=0.077;AN=26;BaseQRankSum=2.64;DP=3732;ExcessHet=1.4774;FS=7.994;InbreedingCoeff=-0.1206;MLEAC=3;MLEAF=0.115;MQ=46.27;MQRankSum=-6.239;QD=6.95;ReadPosRankSum=-3.753;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:7843916_TGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:174,0,3150:7843916	11	0	2	6
chrX	7843935	7843935	G	0	exonic	VCX	.	.	.	.	1	214	1	0	10	11	0.002331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	3751.21	367	chrX	7843935	.	G	*	3751.21	.	AC=2;AF=0.077;AN=26;BaseQRankSum=0.619;DP=3803;ExcessHet=0.4139;FS=34.487;InbreedingCoeff=0.0077;MLEAC=3;MLEAF=0.115;MQ=47.37;MQRankSum=9.02;QD=7.72;ReadPosRankSum=-1.948;SOR=1.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:7843916_TGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:174,0,3150:7843916	11	0	2	6
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	912.69	367	chrX	7843963	.	G	*	912.69	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.04;DP=4175;ExcessHet=0.4139;FS=2.597;InbreedingCoeff=0.0411;MLEAC=3;MLEAF=0.107;MQ=47.75;MQRankSum=-4.171;QD=1.81;ReadPosRankSum=0.08;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:7843916_TGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:174,0,3150:7843916	12	0	2	5
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	114544.0	389	chrX	7843976	.	C	*	114544.0	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.75;DP=5332;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=3;MLEAF=0.079;MQ=49.19;MQRankSum=-10.87;QD=22.4;ReadPosRankSum=1.33;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,9:68:99:1|0:7843916_TGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:3192,2081,2474:7843916	16	0	3	0
chrX	24311569	24311569	G	A	exonic	SUPT20HL2	.	nonsynonymous SNV	SUPT20HL2:NM_001136233:exon1:c.C1825T:p.R609W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	.	2.827e-05	0	0	0	0	5.181e-05	0	0	1.29e-05	2	154602	rs201136785	2.575e-05	1.967e-05	1.825e-05	3.724e-05	5.039e-05	1.17e-05	7.88e-06	1.355e-05	8.66e-06	0	0	0	0	0	0	3.608e-05	0	5.039e-05	8.843e-06	8.699e-06	1.285e-05	0	1.875e-05	0	0	.	.	0	0	0	0	0	0	0	1.875e-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	.	.	.	.	.	.	.	.	0.05263	1839.81	35	chrX	24311569	.	G	A	1839.81	.	AC=2;AF=0.053;AN=38;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.28;SOR=1.238	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1867,171,0	18	1	0	0
chrX	27822288	27822288	G	A	exonic	MAGEB10	.	nonsynonymous SNV	MAGEB10:NM_182506:exon3:c.G982A:p.V328I	.	431	1057	19	15	0	49	0.0226537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0024	0.00741722	0.0064	0.0008	0.0008	0.0002	0.0046	0.0045	0.0174	0.0311	0.0060931	942	154602	rs146965052	0.0050	0.0050	0.0045	0.0062	0.0317	0.0049	0.0049	0.0304	0.0299	0.0006	0.0005	0.0050	6.622e-05	0.0052	0.0191	0.0037	0.0049	0.0317	0.0034	0.0035	0.0034	0.0034	0.0260	0.0031	0.0030	0.0211	0.0194	0.0006	0	0.0005	0.0057	0.0006	0.0051	0.0229	0.0043	0.0026	0.0260	0.572	0.06145	T	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	4.7	0.01673	T	-0.36	0.13035	N	0.027	0.00571	-0.9027	0.47705	T	0.002	0.00676	T	9	0.002999872	0.00049	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.30905830003244733	0.30818	0.274155545098	0.29911	0.38194924593	0.22533	T	0.003	0.01994	T	-0.97411	0.00000	T	-1.14902	0.00008	T	0.00272581046394871	0.00028	T	0.119788	0.00924	T	0.028556041	0.02212	0.043278653	0.05349	0.028556041	0.02211	0.043278653	0.05349	-4.851	0.35179	T	.	.	0.078	0.07697	B	.;.	.;.	-0.436274	0.02080	0.193	0.44550226678641525	0.03433	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	0.845199729666652	0.24940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.79	-3.16	0.04897	0.067000	0.14378	-0.627000	0.08144	-0.901000	0.02322	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2507:0.0:0.7493:0.0	11.516	0.49773	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	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	0.015862	0.000000	0.009276	0.011858	0.000000	0.047059	0.008850	0.047368	0.1053	2836.39	37	chrX	27822288	.	G	A	2836.39	.	AC=4;AF=0.105;AN=38;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.105;MQ=60;QD=32.98;SOR=1.637	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1233,105,0	17	2	0	0
chrX	49603713	49603713	C	G	exonic	GAGE1	.	nonsynonymous SNV	GAGE1:NM_001040663:exon4:c.C251G:p.T84S	.	412	1099	11	0	0	11	0.00497963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00410800883916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.681e-05	0.0073	0.0001	0	9.096e-05	6.297e-05	5.759e-05	7.39e-05	6.798e-05	3.825e-05	5.77e-05	5.292e-05	0	0	0	9.096e-05	4.467e-05	3.729e-05	0.0001	0.0025	0.0002	0	0.0003	9.037e-05	7.302e-05	0.0002	0.0001	0	0	9.39e-05	0	0	0	0	0.0003	0	0	0.014	0.53172	D	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.55	0.13795	T	-3.42	0.67241	D	0.237	0.26717	-1.0601	0.11731	T	0.076	0.30522	T	9	0.25439787	0.42819	T	0.004108	0.09838	T	0.030	0.07022	0.535	0.64439	0.292062946507	0.28806	0.0059423115391932044	0.00563	0.466828294112	0.46077	0.421271592379	0.28011	T	.	.	.	-0.362168	0.04009	T	-0.758006	0.03185	T	0.78499710559845	0.45365	D	0.370463	0.08742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34405	B	.;.;.	.;.;.	1.578301	0.20196	14.64	0.95630324722524762	0.27411	0.01065	0.03951	N	AEFI	.	.	.	.	.	.	.	.	.	1.20364043837826E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5	0.593	0.16660	0.236000	0.17745	-1.210000	0.06016	0.459000	0.21562	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.7255:0.0:0.2745	3.521	0.07301	361	0.84870	.;.;.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.02632	1114.33	34	chrX	49603713	.	C	G	1114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.867;DP=967;ExcessHet=0;FS=6.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.96;MQRankSum=-0.903;QD=3.68;ReadPosRankSum=-0.584;SOR=1.099	GT:AD:DP:GQ:PL	0/1:228,75:303:99:1128,0,5455	18	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	1/1:58,567:625:75:17446,75,0	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:580,83:663:99:686,0,16722	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:531,97:628:99:.:.:1899,0,16520:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:445,79:524:99:.:.:1574,0,13993:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:60,414:474:99:13686,0,437	0	0	19	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/1:305,67:372:99:1091,0,10214	8	0	10	1
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,56:360:99:0|1:55146247_G_C:1370,0,12474:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,56:348:99:0|1:55146247_G_C:1406,0,12042:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:111,223:334:99:6416,0,3606	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,55:338:99:0|1:55146247_G_C:1426,0,11679:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:52,218:270:99:6888,0,1251	0	0	19	0
chrX	57592664	57592664	G	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.G616A:p.G206R	.	432	1055	35	0	0	35	0.016317	.	.	.	3351554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00644329845832	.	.	0.0014	0.0004	0.0013	0.0024	0.0011	0.0014	0.0062	0.0020	0.0001921	5	26028	rs747364155	0.0006	0.0018	0.0006	0.0006	0.0015	0.0006	0.0006	0.0011	0.0010	0.0004	0.0015	0.0046	0.0011	0.0002	0.0015	0.0005	0.0008	0.0011	0.0004	0.0017	0.0004	0.0004	0.0022	0.0003	0.0003	0.0010	0.0007	9.791e-05	0.0015	0	0.0037	0.0022	0.0003	0	0.0004	0.0007	0	0.47	0.08483	T	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.011697	0.29437	N	0.160870	1	0.08975	N	0.69	0.16971	N	2.81	0.10975	T	-0.91	0.24460	N	0.028	0.00618	-0.9489	0.41160	T	0.012	0.04700	T	10	0.012963623	0.00276	T	0.006443	0.16956	T	0.014	0.01968	0.256	0.19689	0.043077524339	0.03247	0.18998404845993977	0.18916	1.24468813859	0.81636	0.759609699249	0.75871	T	0.028547	0.20653	T	-0.531361	0.00377	T	-1.00104	0.00137	T	0.00039367558201775	0.00003	T	0.377662	0.09049	T	0.067176715	0.14523	0.076588094	0.16976	0.067176715	0.14523	0.076588094	0.16976	-5.085	0.37748	T	.	.	0.108	0.20430	B	.	.	0.033570	0.04519	1.218	0.79293539811230451	0.12676	0.03073	0.07985	N	ALL	.	.	.	.	.	.	.	.	.	0.999999745769581	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.65	1.78	0.23918	-0.187000	0.09652	-1.834000	0.04642	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3435:0.0:0.6565:0.0	4.304	0.10382	434	0.80536	.	.	.	.	.	.	Uncertain significance	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	0.045039	0.041096	0.044527	0.051383	0.142857	0.047059	0.035714	0.036842	0.02778	208.71	38	chrX	57592664	.	G	A	208.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=5.14;DP=1007;ExcessHet=0;FS=21.608;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=53.35;MQRankSum=-5.665;QD=2.35;ReadPosRankSum=-2.229;SOR=4.27	GT:AD:DP:GQ:PL	0/1:77,12:89:99:222,0,2037	17	0	1	1
chrX	67546320	67546320	C	T	exonic	AR	.	nonsynonymous SNV	AR:NM_000044:exon1:c.C1174T:p.P392S,AR:NM_001348061:exon1:c.C1174T:p.P392S,AR:NM_001348063:exon1:c.C1174T:p.P392S,AR:NM_001348064:exon1:c.C1174T:p.P392S	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	5	1467	34	16	0	66	0.022	.	.	YES	213671	AR-related_disorder|not_specified|Androgen_resistance_syndrome|Kennedy_disease|Hypospadias_1,_X-linked|not_provided|Partial_androgen_insensitivity_syndrome	.|MedGen:CN169374|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|MONDO:MONDO:0010384,MedGen:C2678098,OMIM:300633,Orphanet:440|MedGen:C3661900|MONDO:MONDO:0010720,MedGen:C0268301,OMIM:312300,Orphanet:90797	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.766	.	.	0.00741722	0.0080	0.0004	0.0017	0.0004	0	0.0041	0.0128	0.0318	0.0042561	658	154602	rs201934623	0.0033	0.0034	0.0029	0.0041	0.0248	0.0032	0.0032	0.0237	0.0232	0.0002	0.0016	0.0023	3.388e-05	0.0003	0.0096	0.0024	0.0034	0.0248	0.0023	0.0024	0.0020	0.0029	0.0278	0.0021	0.0020	0.0227	0.0209	0.0003	0	0.0029	0.0026	0.0003	0.0002	0.0092	0.0024	0.0046	0.0278	0.023	0.48186	D	0.11	0.40267	T	.	.	.	.	.	.	0.003281	0.35154	N	0.178051	0.894798	0.36033	D	.	.	.	-3.89	0.95984	D	-2.2	0.58085	N	0.071	0.27673	0.648	0.92516	D	0.829	0.94260	D	10	0.0062516034	0.00141	T	.	.	.	0.766	0.92087	.	.	0.9820403104	0.98184	0.6266393693549259	0.62596	0.487470984321	0.47571	0.760729134083	0.76037	T	0.028737	0.24619	T	-0.00920381	0.50376	T	0.232927	0.84812	D	0.017087029842915	0.00455	T	0.876112	0.58915	D	0.09093155	0.21293	0.17065041	0.39189	0.104712844	0.24756	0.14456044	0.34317	-3.087	0.15286	T	0.13172630257173745	0.13980	0.167	0.40065	B	.;.;.;.;.;.	.;.;.;.;.;.	1.920947	0.24395	16.38	0.99829277438465058	0.91112	0.73706	0.36052	D	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999991502785384	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	3.3	0.36912	1.641000	0.36812	2.143000	0.30857	0.585000	0.30472	0.999000	0.42656	1.000000	0.68203	0.901000	0.43729	0.0:0.8107:0.0:0.1893	8.722	0.33611	563	0.71062	.;.;.;.;.;.	.	.	.	.	.	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	0.006267	0.000000	0.003711	0.007937	0.000000	0.000000	0.009050	0.015789	0.05263	1465.81	65	chrX	67546320	.	C	T	1465.81	.	AC=2;AF=0.053;AN=38;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.87;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1493,138,0	18	1	0	0
chrX	101398432	101398432	C	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon6:c.G937T:p.D313Y	Fabry disease, X-linked;Fabry disease, cardiac variant, X-linked	0	1515	3	4	0	11	0.00361723	.	.	YES	25777	Cardiomyopathy|Cardiovascular_phenotype|not_specified|not_provided|Fabry_disease|Hypertrophic_cardiomyopathy|Sudden_unexplained_death	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C0520806	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.614	0.895103895607	0.0029	0.00211921	0.0031	0.0011	0.0017	0	0.0013	0.0044	0.0063	0.0029	0.00315	487	154602	rs28935490	0.0038	0.0038	0.0038	0.0039	0.0044	0.0037	0.0037	0.0042	0.0042	0.0005	0.0020	0.0062	0	0.0008	0.0044	0.0043	0.0033	0.0033	0.0031	0.0032	0.0032	0.0031	0.0053	0.0029	0.0028	0.0048	0.0046	0.0007	0	0.0015	0.0064	0	0.0005	0	0.0053	0.0040	0.0023	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.89	0.63157	P	0.001400	0.39175	N	0.330516	0.755886	0.33982	D	2.485	0.72352	M	-8.15	0.99928	D	-3.18	0.64478	D	0.242	0.27316	1.097	0.99542	D	0.993	0.99826	D	9	0.021395475	0.00511	T	0.895104	0.99207	D	0.614	0.84932	.	.	0.99497889687	0.99492	0.9856763339236793	0.98560	1.90210659146	0.92831	0.335618317127	0.15782	T	0.97888	0.99815	D	-0.114029	0.34105	T	0.0650709	0.74582	D	0.0252911595714227	0.01311	T	0.879712	0.59601	D	0.8621148	0.88248	0.7106251	0.82930	0.91477954	0.92746	0.7168815	0.83289	-3.942	0.22933	T	0.3716853201508746	0.46712	0.150	0.33273	B	.;.	.;.	1.866822	0.23715	16.12	0.98417197864539607	0.41244	0.77115	0.37881	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.99999921453141	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	-5.05	0.02733	0.136000	0.15794	-0.813000	0.07327	-0.214000	0.08267	0.979000	0.35152	0.000000	0.08366	0.963000	0.52385	0.0:0.2038:0.0967:0.6995	10.225	0.42399	125	0.94984	.;.	.	.	.	.	.	Uncertain significance	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	0.000688	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	1848.81	38	chrX	101398432	.	C	A	1848.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.44;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1876,171,0	18	1	0	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	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	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.1579	11282.4	48	chrX	107981733	.	G	C	11282.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.86;DP=1207;ExcessHet=0.0015;FS=1.134;InbreedingCoeff=0.6042;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.359;SOR=0.8	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3328,300,0	15	2	2	0
chrX	109475240	109475240	G	A	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon2:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	0.514224395637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970540009	2.738e-06	2.732e-06	1.362e-06	5.536e-06	0.0005	7.3e-07	2e-07	8.564e-05	3.564e-05	0	0	0	0	0	0.0005	0	0	1.856e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	0.873	0.47975	P	0.616	0.51268	P	0.000036	0.55875	D	0.072732	1	0.81001	D	2.3	0.65703	M	-1.71	0.83157	D	-2.74	0.58248	D	0.251	0.28381	0.328	0.88002	D	0.607	0.86076	D	10	0.537614	0.63537	D	0.514224	0.95348	D	0.616	0.85039	0.743	0.87486	0.768943048965	0.76683	0.41367266245572304	0.41283	0.542254681767	0.51335	0.417810738087	0.27537	T	0.349329	0.71719	T	0.0551934	0.59008	T	-0.158495	0.58488	T	0.979092061519623	0.72655	D	0.660634	0.26999	T	0.5412165	0.69464	0.4470237	0.67796	0.5412165	0.69465	0.4470237	0.67796	-5.927	0.45664	T	.	.	0.221	0.45174	B	.	.	3.597323	0.50793	23.0	0.99881723928170874	0.95733	0.97511	0.75225	D	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79	4.79	0.60909	4.219000	0.58357	6.484000	0.55744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	14.393	0.66561	175	0.93230	Receptor, ligand binding region	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2552.81	33	chrX	109475240	.	G	A	2552.81	.	AC=2;AF=0.053;AN=38;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.73;SOR=0.976	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2580,234,0	18	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:25,13:41:42:42,0,417	2	0	17	0
chrX	136347549	136347549	G	T	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.G3843T:p.K1281N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.00855885068314	9.5e-05	0.0018543	0.0006	0	0.0001	0	0	2.107e-05	0	0.0053	0.0005821	90	154602	rs202020116	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0032	0.0031	0	0	0	0	0	0.0012	7.14e-06	8.697e-05	0.0037	0.0001	0.0001	0.0001	8.768e-05	0.0041	6.863e-05	5.375e-05	0.0023	0.0018	0	0	0	0	0	0	0	3.769e-05	0	0.0041	0.062	0.36912	T	0.382	0.15890	T	0.001	0.07471	B	0.001	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	1.05	0.41058	T	-1.29	0.32387	N	0.052	0.06720	-1.0412	0.16951	T	0.045	0.19356	T	9	0.0042480826	0.00085	T	0.008559	0.22631	T	0.161	0.41658	0.241	0.17371	0.0401082797425	0.02173	0.08273771084589873	0.08208	0.0388868102797	0.04135	0.288540124893	0.08711	T	0.010392	0.09385	T	-0.852732	0.00002	T	-0.998187	0.00142	T	0.0258345094801122	0.01383	T	0.29867	0.05569	T	0.064691015	0.13749	0.075395234	0.16595	0.064691015	0.13749	0.075395234	0.16595	-4.327	0.28554	T	.	.	0.19	0.40842	B	.;.;.	.;.;.	-0.739476	0.01232	0.062	0.36647003556234331	0.02369	0.00808	0.03281	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999819396807034	0.43459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.05	-4.89	0.02875	-0.701000	0.05177	-0.099000	0.11964	-1.561000	0.00947	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3341:0.1464:0.2227:0.2969	0.178	0.00111	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.05263	2759.81	116	chrX	136347549	.	G	T	2759.81	.	AC=2;AF=0.053;AN=38;DP=1969;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.07;SOR=0.876	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2787,242,0	18	1	0	0
chrX	141906175	141906175	G	C	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.G771C:p.Q257H	.	525	919	45	28	5	106	0.0520887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0033	0.00768212	0.0042	0.0022	0.0031	0.0011	0.0039	0.0053	0.0030	0.0060	0.0014215	37	26028	rs143440588	0.0009	0.0017	0.0008	0.0013	0.0055	0.0009	0.0008	0.0047	0.0044	0.0009	0.0010	0	0.0055	9.855e-05	0.0015	0.0006	0.0006	0.0035	0.0010	0.0029	0.0009	0.0011	0.0063	0.0008	0.0007	0.0032	0.0023	0.0010	0	0.0005	0	0.0013	0	0.0092	0.0010	0	0.0063	0.0	0.91255	D	0.005	0.72224	D	0.162	0.28404	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.75	0.19020	N	4.38	0.02255	T	-0.62	0.18248	N	0.06	0.03175	-0.9871	0.33323	T	0.010	0.03492	T	8	0.005740702	0.00128	T	.	.	.	0.139	0.37390	0.062	0.00241	0.0482279557977	0.04254	0.04212803189635986	0.04157	.	.	0.468453377485	0.34467	T	0.004497	0.03907	T	-0.657746	0.00065	T	-0.720947	0.04750	T	0.00912418592773104	0.00115	T	0.29657	0.05494	T	0.14869182	0.33934	0.12055436	0.29093	0.14869182	0.33933	0.12055436	0.29092	-3.916	0.22542	T	.	.	0.269	0.50297	B	.	.	-1.521857	0.00282	0.005	0.29134421010532779	0.01530	0.00511	0.02393	N	AEFBCI	.	.	.	.	.	.	.	.	.	5.517823466455E-4	0.07304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.950000	0.00369	.	.	-6.510000	0.00003	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0E-4:0.3473:0.6526	4.102	0.09491	987	0.02648	.	.	.	.	.	.	Uncertain significance	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	0.003012	0.000000	0.005682	0.005525	0.000000	0.000000	0.000000	0.000000	0.05556	3898.63	163	chrX	141906175	.	G	C	3898.63	.	AC=2;AF=0.056;AN=36;DP=2444;ExcessHet=0;FS=0;InbreedingCoeff=0.8633;MLEAC=2;MLEAF=0.056;MQ=59.54;QD=30.94;SOR=0.826	GT:AD:DP:GQ:PL	1/1:0,126:126:99:3925,374,0	17	1	0	1
chrY	9337966	9337966	C	T	exonic	TSPY1;TSPY10;TSPY3;TSPY4;TSPY8	.	nonsynonymous SNV	TSPY4:NM_001164471:exon1:c.C457T:p.R153C,TSPY3:NM_001077697:exon2:c.C439T:p.R147C,TSPY8:NM_001243721:exon2:c.C439T:p.R147C,TSPY10:NM_001282469:exon2:c.C439T:p.R147C,TSPY10:NM_001320962:exon2:c.C439T:p.R147C,TSPY1:NM_001320964:exon2:c.C178T:p.R60C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.942861970661	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199647885	9.807e-05	0.0002	.	9.807e-05	0.0002	6.726e-05	5.665e-05	6.989e-05	5.828e-05	0	0.0002	0	0	0	0	0.0001	9.485e-05	0.0001	0	0.0003	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.902054	0.27681	N	.	.	.	1.65	0.27650	T	-6.46	0.91436	D	0.105	0.11626	-0.9968	0.30810	T	0.103	0.37869	T	5	0.39564317	0.55206	T	0.942862	0.99598	D	0.054	0.15330	.	.	0.0666544352282	0.05500	0.06584103714838452	0.06523	.	.	.	.	.	0.181022	0.53255	T	-0.337799	0.05541	T	-0.723001	0.04652	T	0.888439655303955	0.53903	D	0.835916	0.50694	T	0.29662415	0.52600	0.37077254	0.62320	0.29662415	0.52600	0.37077254	0.62320	-9.088	0.68261	D	.	.	0.233	0.49903	B	.;.;.	.;.;.	1.757346	0.22356	15.59	0.98952691854340846	0.49170	0.13753	0.18033	N	AEF	.	.	.	.	.	.	.	.	.	0.814854012122898	0.24420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789000	0.26547	.	.	.	.	0.986000	0.36153	0.000000	0.08366	.	.	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	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	52.64	.	chrY	9337966	.	C	T	52.64	.	AC=2;AF=0.111;AN=18;DP=38;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=27;QD=26.32;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:64,6,0	8	1	0	10
chrY	9468575	9468575	C	T	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon4:c.C739T:p.R247C,TSPY1:NM_003308:exon4:c.C739T:p.R247C,TSPY1:NM_001320964:exon5:c.C478T:p.R160C	.	1112	376	34	0	0	34	0.043257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.942448804252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453465763	0	3.698e-05	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.148	0.47581	T	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	.	.	.	2.19	0.61577	M	1.41	0.33412	T	-2.46	0.53736	N	0.091	0.06990	-1.0255	0.21919	T	0.095	0.35924	T	5	0.3254106	0.49852	T	0.942449	0.99595	D	0.077	0.22490	.	.	0.0954503805726	0.09146	0.1224262590712214	0.12169	.	.	.	.	.	0.061559	0.31686	T	-0.594515	0.00157	T	-0.799608	0.01912	T	0.297556161880493	0.24903	T	0.954405	0.82627	D	0.1592242	0.35779	0.26193547	0.51978	0.1592242	0.35779	0.26193547	0.51977	-4.639	0.33968	T	.	.	0.217	0.45359	B	.;.	.;.	2.000986	0.25425	16.76	0.99244968679632095	0.56662	0.00250	0.01379	N	AEF	.	.	.	.	.	.	.	.	.	1.14592207977015E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.248000	0.08872	.	.	0.200000	0.17917	0.007000	0.17678	0.000000	0.08366	0.017000	0.10941	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.15	226.97	.	chrY	9468575	.	C	T	226.97	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.17;DP=373;ExcessHet=0.7463;FS=27.454;InbreedingCoeff=-0.1765;MLEAC=5;MLEAF=0.25;MQ=21.97;MQRankSum=-0.786;QD=1.91;ReadPosRankSum=1.05;SOR=4.644	GT:AD:DP:GQ:PL	0/1:30,10:40:99:127,0,648	7	0	3	9
chrY	21540613	21540613	G	C	exonic	RBMY1A1;RBMY1B;RBMY1D	.	nonsynonymous SNV	RBMY1D:NM_001006120:exon4:c.G229C:p.A77P,RBMY1B:NM_001006121:exon4:c.G229C:p.A77P,RBMY1A1:NM_001320944:exon4:c.G229C:p.A77P,RBMY1B:NM_001320948:exon4:c.G229C:p.A77P,RBMY1D:NM_001320949:exon4:c.G229C:p.A77P,RBMY1A1:NM_005058:exon4:c.G229C:p.A77P,RBMY1D:NM_001320950:exon5:c.G157C:p.A53P	.	1004	499	19	0	0	19	0.0186824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.962498979692	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311459925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24661	T	0.419	0.17064	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	-0.285	0.03692	N	2.39	0.15724	T	-2.5	0.54382	D	0.183	0.19995	.	.	.	.	.	.	.	0.34364584	0.51373	T	0.962499	0.99758	D	.	.	.	.	0.211220785272	0.20719	0.09346906487212094	0.09278	.	.	.	.	.	0.022367	0.17257	T	-0.346774	0.04933	T	-0.735893	0.04065	T	.	.	.	0.775222	0.41560	T	0.59579325	0.72464	0.48096418	0.69942	0.59579325	0.72465	0.48096418	0.69943	-3.755	0.21044	T	.	.	0.296	0.55103	B	.;.;.	.;.;.	0.759604	0.11292	7.918	0.61740261725115464	0.06785	0.05827	0.11767	N	AEF	.	.	.	.	.	.	.	.	.	1.78945847649623E-4	0.05786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392000	0.20527	.	.	-0.720000	0.03816	0.998000	0.41325	0.000000	0.08366	0.090000	0.17789	.	.	.	.	.	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	220.21	.	chrY	21540613	.	G	C	220.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.647;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.1;MQ=22.32;MQRankSum=0.155;QD=6.88;ReadPosRankSum=-2.064;SOR=0.324	GT:AD:DP:GQ:PL	0/1:20,12:32:99:229,0,445	9	0	1	9