Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	PID3559-P	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	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.981	D	0.265	B	0.002	N	1.000	N	1.24	L	-0.02	T	-0.903	T	0.129	T	0.276	1.914	12.36	2.21	0.667	-0.921	6.235	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3781.68	36	chr1	1214100	.	G	A	3781.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.110e-01;DP=932;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-8.580e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:74,97:171:99:2155,0,1495	18	0	3	0
chr1	2596083	2596083	G	A	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon15:c.C1426T:p.R476W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.18	M	-1.01	T	0.573	D	0.687	D	0.605	3.906	19.86	4.31	1.306	5.226	14.449	0.600	0.216175996714	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1004607239	4.789e-06	5.472e-06	6.807e-06	2.75e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	2.237e-05	0	0	0	0.0002	4.497e-06	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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.112824	0.999999	0.58761	D	3.295	0.90403	M	-1.01	0.76168	T	-7.14	0.94073	D	0.616	0.63459	0.573	0.91544	D	0.687	0.89191	D	10	0.9446826	0.93794	D	0.216176	0.87545	D	0.600	0.84183	0.708	0.84418	0.824221523835	0.82255	0.6110595370569311	0.61037	0.714303681493	0.61876	0.42274171114	0.28214	T	0.893224	0.97847	D	0.062004	0.59864	T	-0.0658468	0.65921	T	0.983108341693878	0.74897	D	0.962404	0.85901	D	0.69067246	0.77548	0.54058915	0.73449	0.69067246	0.77550	0.54058915	0.73449	-10.48	0.78695	D	.	.	0.290	0.64141	B	.;.	.;.	4.592140	0.72647	25.9	0.9991676732211624	0.98449	0.97864	0.77703	D	AEFDBI	0.909236	0.86561	D	0.603191985629223	0.73374	5.956064	0.461443652569985	0.65457	4.826004	0.999999889839436	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.24	4.31	0.50718	6.465000	0.73453	3.857000	0.40118	0.676000	0.76740	1.000000	0.71638	0.892000	0.27844	0.144000	0.20092	0.0:0.0:0.8519:0.1481	14.449	0.66949	836	0.38045	Peptidase M13, N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	680.98	36	chr1	2596083	.	G	A	680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=1.77;SOR=0.671	GT:AD:DP:GQ:PL	0/1:50,35:85:99:695,0,1136	20	0	1	0
chr1	5986320	5986337	CGGATGATCTGTGCCAGT	-	splicing	NPHP4	.	.	.	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270141044	1.37e-06	1.368e-06	1.363e-06	1.377e-06	9.001e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.001e-07	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1527.94	32	chr1	5986319	.	CCGGATGATCTGTGCCAGT	C	1527.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.060e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.15;ReadPosRankSum=-2.800e-01;SOR=0.791	GT:AD:DP:GQ:PL	0/1:25,41:66:99:1542,0,889	20	0	1	0
chr1	8359809	8359814	CTCCTT	-	exonic	RERE	.	nonframeshift deletion	RERE:NM_001042682:exon9:c.1906_1911del:p.K636_E637del	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	.	386	1128	5	1	2	9	0.00309324	.	.	719101	Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart|not_provided|RERE-related_disorder	MONDO:MONDO:0014857,MedGen:C4310772,OMIM:616975,Orphanet:494344|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221	.	0.0040	0.0085	0.0059	0.0070	0.0006	0.0034	0.0047	0.0023	0.0011526	30	26028	rs147985313	0.0038	0.0038	0.0039	0.0038	0.0077	0.0038	0.0037	0.0070	0.0067	0.0068	0.0051	0.0025	0.0077	0.0010	0.0031	0.0039	0.0033	0.0023	0.0041	0.0041	0.0045	0.0037	0.0065	0.0038	0.0037	0.0058	0.0056	0.0065	0	0.0039	0.0009	0.0058	0.0003	0	0.0034	0.0066	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2200.94	34	chr1	8359808	.	GCTCCTT	G	2200.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e+00;DP=870;ExcessHet=0.0000;FS=0.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=-8.120e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:55,58:113:99:2215,0,2135	20	0	1	0
chr1	10639131	10639131	-	TCGTCCTCGTCC	exonic	CASZ1	.	nonframeshift insertion	CASZ1:NM_001079843:exon21:c.5090_5091insGGACGAGGACGA:p.D1696_D1697insEDED,	.	.	.	.	.	.	.	.	.	.	.	1598478	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0	0	0	0	0.0047	0	0.0004	0.0001153	3	26028	rs746886067	0.0006	0.0005	0.0006	0.0006	0.0025	0.0005	0.0005	0.0011	0.0008	0.0002	0.0004	0.0160	0	0	0.0025	0.0004	0.0015	0.0002	0.0009	0.0009	0.0009	0.0009	0.0007	0.0008	0.0008	0.0005	0.0005	7.349e-05	0	6.79e-05	0.0229	0	0	0.0071	0.0007	0.0030	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2531.95	15	chr1	10639131	.	G	GTCGTCCTCGTCC	2531.95	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.075e+00;DP=560;ExcessHet=0.0000;FS=6.614;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.33;ReadPosRankSum=0.342;SOR=1.238	GT:AD:DP:GQ:PL	0/1:72,59:131:99:2546,0,2432	20	0	1	0
chr1	10660248	10660248	A	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.T794C:p.V265A	.	.	424	1071	26	1	0	28	0.0129032	.	.	695947	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.084	N	1.000	N	-0.55	N	.	.	-0.985	T	0.015	T	0.012	-2.557	0.003	1.3	0.082	0.831	3.961	0.029	.	0.0069	0.00299521	0.0073	0.0010	0.0046	0	0.0017	0.0115	0.0056	0.0022	0.0069469	1074	154602	rs138985539	0.0081	0.0081	0.0082	0.0080	0.0104	0.0080	0.0079	0.0087	0.0086	0.0016	0.0059	0.0313	0	0.0021	0.0104	0.0088	0.0088	0.0024	0.0070	0.0070	0.0075	0.0065	0.0102	0.0066	0.0065	0.0096	0.0094	0.0015	0	0.0095	0.0297	0.0002	0.0011	0.0306	0.0102	0.0114	0.0021	0.908	0.02477	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.083835	0.20731	N	0.492755	1	0.08975	N	-0.345	0.03330	N	.	.	.	0.52	0.02853	N	0.052	0.02366	-0.9854	0.33735	T	0.015	0.05801	T	9	0.0022799373	0.00033	T	.	.	.	0.029	0.06676	.	.	0.043077524339	0.03247	0.08958754732725842	0.08891	.	.	0.458169311285	0.33059	T	0.111085	0.42630	T	-0.703405	0.00035	T	-0.771493	0.02719	T	0.000453725176605205	0.00004	T	0.349165	0.07749	T	0.0205099	0.00611	0.024355443	0.00453	0.026193097	0.01646	0.024355443	0.00453	-2.53	0.06004	T	.	.	0.051	0.00234	B	.;.	.;.	-0.290436	0.02660	0.340	0.20271689420521952	0.00722	0.04523	0.10152	N	AEFBI	0.045906	0.07563	N	-1.40019804897115	0.02638	0.1167413	-1.31256629560817	0.04267	0.2008946	0.777367603031914	0.23775	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	1.3	0.20778	0.977000	0.29072	0.320000	0.17174	-0.745000	0.03636	0.582000	0.27602	0.000000	0.08366	0.047000	0.14932	0.4216:0.0:0.4186:0.1597	3.961	0.08906	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	0.04762	2997.11	33	chr1	10660248	.	A	G	2997.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.17;DP=1009;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.41;SOR=0.701	GT:AD:DP:GQ:PL	0/1:80,94:174:99:1962,0,1746	19	0	2	0
chr1	15487349	15487349	G	T	exonic	CELA2B	.	nonsynonymous SNV	CELA2B:NM_015849:exon7:c.G704T:p.G235V,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.003	N	0.988	D	-2.81	N	-2.66	D	-0.729	T	0.127	T	0.255	-2.039	0.006	3.63	0.748	1.104	5.081	0.199	0.226521705804	0.0059	0.00139776	0.0048	0.0017	0.0016	0.0005	0.0008	0.0076	0.0022	0.0014	0.0050193	776	154602	rs141194336	0.0072	0.0072	0.0074	0.0070	0.0089	0.0071	0.0070	0.0087	0.0087	0.0012	0.0015	0.0010	0.0005	0.0009	0.0012	0.0089	0.0058	0.0012	0.0044	0.0044	0.0048	0.0041	0.0085	0.0041	0.0040	0.0080	0.0077	0.0012	0	0.0014	0.0009	0.0008	0.0003	0	0.0085	0.0024	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.003371	0.35041	N	0.119730	0.987719	0.40637	D	-0.935	0.01286	N	-2.66	0.90272	D	4.5	0.00036	N	0.295	0.33360	-0.7286	0.59034	T	0.127	0.43442	T	10	0.045677453	0.03666	T	0.226522	0.88048	D	0.199	0.48268	.	.	0.242244723065	0.23846	0.6253154634147269	0.62464	0.381318654859	0.39492	0.301649451256	0.10646	T	0.115191	0.43359	T	-0.366627	0.03768	T	-0.289023	0.45875	T	0.000967562372855269	0.00009	T	0.691431	0.30091	T	0.045571018	0.07481	0.0530779	0.08872	0.045571018	0.07481	0.0530779	0.08872	0.671	0.00180	T	.	.	0.277	0.51014	B	.	.	0.694458	0.10630	7.332	0.64187098920647601	0.07425	0.06624	0.12640	N	AEFDBI	0.119412	0.23307	N	-1.26963941026101	0.04046	0.1818906	-0.99910573799848	0.09805	0.4899911	0.0104447363899148	0.12026	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.77	3.63	0.40741	1.010000	0.29500	-2.055000	0.04281	-0.161000	0.11593	1.000000	0.71638	0.000000	0.08366	0.088000	0.17685	0.0:0.0965:0.1913:0.7123	5.081	0.13993	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	rs141194336	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1555.98	40	chr1	15487349	.	G	T	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.660e-01;DP=1433;ExcessHet=0.0000;FS=1.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=1.46;SOR=0.538	GT:AD:DP:GQ:PL	0/1:57,72:129:99:1570,0,1220	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:156,38:194:99:630,0,4481	3	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:341,55:396:99:386,0,8648	3	0	18	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:365,212:577:99:4243,0,10249	1	0	20	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:451,113:564:99:1415,0,14229	1	0	20	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,16:105:99:.:.:129,0,2351	11	0	10	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,7:19:99:0|1:16579293_A_G:258,0,483:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,7:19:99:0|1:16579293_A_G:258,0,483:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,6:20:99:0|1:16579305_G_A:202,0,570:16579305	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,5:19:99:0|1:16579305_G_A:168,0,573:16579305	8	0	13	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	1619.68	818	chr1	16591991	.	C	T	1619.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.34;DP=7507;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.14;MQRankSum=-1.550e+00;QD=0.81;ReadPosRankSum=-6.030e-01;SOR=0.640	GT:AD:DP:GQ:PL	0/1:448,68:516:99:417,0,10154	18	0	3	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P,	.	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.999	D	0.001	D	.	.	.	.	.	.	-0.707	T	0.205	T	0.394	0.985	9.021	.	0.502	4.380	6.740	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2143	10056.01	467	chr1	16757526	.	C	G	10056.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.907e+00;DP=7504;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=40.50;MQRankSum=-1.159e+00;QD=2.85;ReadPosRankSum=0.494;SOR=0.679	GT:AD:DP:GQ:PL	0/1:130,37:167:99:529,0,3264	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:97,43:140:99:1103,0,3036	2	7	12	0
chr1	16760442	16760442	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.C387A:p.N129K,	.	.	382	1064	76	0	0	76	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	.	.	.	.	.	.	-0.439	T	0.277	T	0.114	1.871	12.22	.	0.502	0.328	6.740	0.281	.	.	.	0.0106	0.0089	0.0060	0	0.0183	0.0138	0.0126	0.0040	3.84e-05	1	26028	rs772310681	0.0016	0.0086	0.0017	0.0015	0.0027	0.0015	0.0015	0.0017	0.0017	0.0004	0.0002	0.0007	0	0.0028	0.0027	0.0018	0.0011	0.0005	0.0009	0.0060	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0008	0.0009	0	0.0017	0	0.0012	0.0020	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	607.1	39	chr1	16760442	.	G	T	607.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.598e+00;DP=3831;ExcessHet=0.1072;FS=0.651;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=44.34;MQRankSum=0.731;QD=1.68;ReadPosRankSum=-3.790e-01;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,2:20:30:0|1:16760442_G_T:30,0,732:16760442	19	0	2	0
chr1	16760445	16760446	AC	-	exonic	MST1L	.	frameshift deletion	MST1L:NM_001271733:exon4:c.383_384del:p.R128Qfs*3,	.	.	382	1066	74	0	0	74	0.0335449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0089	0.0060	0	0.0183	0.0139	0.0127	0.0041	0.001191	31	26028	rs748266310	0.0014	0.0085	0.0015	0.0013	0.0023	0.0013	0.0013	0.0015	0.0015	0.0003	0.0002	0.0007	0	0.0027	0.0023	0.0016	0.0010	0.0005	0.0008	0.0060	0.0008	0.0009	0.0011	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0009	0.0009	0	0.0015	0	0.0011	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	589.07	39	chr1	16760444	.	TAC	T	589.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.72;DP=3844;ExcessHet=0.1072;FS=0.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=44.49;MQRankSum=0.731;QD=1.60;ReadPosRankSum=0.00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,2:20:30:0|1:16760442_G_T:30,0,732:16760442	19	0	2	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H,	.	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	.	.	.	.	.	.	-0.445	T	0.276	T	0.209	2.959	15.86	.	0.502	5.217	6.740	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1905	3282.72	39	chr1	16760446	.	C	T	3282.72	.	AC=8;AF=0.190;AN=42;BaseQRankSum=2.49;DP=5013;ExcessHet=3.5521;FS=14.600;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.190;MQ=45.78;MQRankSum=-1.759e+00;QD=1.55;ReadPosRankSum=-3.770e-01;SOR=2.106	GT:AD:DP:GQ:PL	0/1:13,5:20:99:136,0,348	13	0	8	0
chr1	19239888	19239888	A	G	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon7:c.T818C:p.L273S	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	429	1082	11	0	0	11	0.00505747	.	.	1153394	not_provided|Retinal_dystrophy|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B	MedGen:C3661900|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:0014811,MedGen:C4225172,OMIM:616875	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.979	D	0.79	P	0.000	D	1.000	D	1.67	L	1.39	T	-1.131	T	0.021	T	0.822	4.281	22.4	5.72	2.174	8.671	14.844	0.212	.	0.0002	0.0203674	0.0126	9.626e-05	0.0354	0.0698	0.0014	0.0004	0.0121	0.0282	0.0112547	1740	154602	rs3850531	0.0047	0.0048	0.0043	0.0052	0.0683	0.0047	0.0046	0.0661	0.0653	0.0003	0.0286	0	0.0683	0.0019	0.0014	0.0002	0.0060	0.0266	0.0047	0.0047	0.0039	0.0055	0.0656	0.0044	0.0043	0.0598	0.0576	0.0002	0	0.0114	0	0.0656	0.0008	0	0.0001	0.0028	0.0340	0.096	0.78490	T	0.002	0.79402	D	0.964	0.55854	D	0.621	0.51426	P	0.000096	0.51296	D	0.134805	0.999951	0.52396	D	2.125	0.59049	M	1.39	0.35031	T	-1.69	0.45042	N	0.268	0.46928	-1.1305	0.01758	T	0.021	0.08917	T	10	0.0030947328	0.00051	T	.	.	.	0.212	0.50341	.	.	.	.	0.8386410710141124	0.83824	1.12563053884	0.78449	0.509719252586	0.40184	T	0.016819	0.13832	T	-0.207494	0.19734	T	-0.0173732	0.69202	D	0.0554962634532404	0.06440	T	0.865513	0.56452	D	0.31484368	0.54201	0.21973296	0.46724	0.28136128	0.51179	0.21973296	0.46723	-4.597	0.33015	T	0.3831905074263139	0.47734	0.720	0.78596	P	.;.;.	.;.;.	4.440638	0.68943	25.3	0.99816337348890893	0.89973	0.97460	0.74892	D	AEFBHCI	0.910182	0.86777	D	0.575327708079049	0.71638	5.681263	0.628786310720312	0.77041	6.603354	0.999999990037617	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	8.697000	0.91034	9.354000	0.80321	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	14.844	0.69881	778	0.48011	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3579.11	38	chr1	19239888	.	A	G	3579.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.680e-01;DP=1096;ExcessHet=0.1072;FS=2.266;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.791;SOR=0.579	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1306,0,1260	19	0	2	0
chr1	21978396	21978396	G	A	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.G71A:p.R24H,	.	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.007	N	1.000	N	0.285	N	-2.16	D	-0.632	T	0.420	T	0.304	1.876	12.23	-10.2	-2.082	-2.185	12.317	0.319	0.0371692555097	7.7e-05	.	0.0002	9.612e-05	0	0	0.0008	0.0003	0	6.069e-05	0.000207	32	154602	rs141038744	0.0016	0.0024	0.0015	0.0017	0.0022	0.0016	0.0016	0.0019	0.0018	0.0004	0.0009	0.0011	0.0004	0.0034	0.0016	0.0016	0.0018	0.0022	0.0036	0.0049	0.0037	0.0034	0.0059	0.0033	0.0032	0.0054	0.0052	0.0008	0	0.0016	0.0023	0.0006	0.0044	0	0.0059	0.0033	0.0035	0.358	0.11994	T	0.229	0.25210	T	0.0	0.02946	B	0.0	0.01387	B	0.007306	0.01163	N	2.529540	1	0.08975	N	1.255	0.31814	L	-2.41	0.88533	D	0.6	0.02518	N	0.154	0.15888	-0.6321	0.63481	T	0.420	0.76556	T	10	0.039126813	0.02379	T	0.037169	0.57449	D	0.319	0.64112	.	.	0.0954503805726	0.09146	0.4556730093205391	0.45485	0.205366021206	0.22955	0.253240227699	0.04116	T	0.00303	0.02432	T	-0.0689393	0.41495	T	-0.336803	0.40707	T	0.0574381133510097	0.06760	T	0.0687931	0.00503	T	0.018113418	0.00333	0.022597525	0.00281	0.018113418	0.00333	0.022597525	0.00281	-5.191	0.38850	T	.	.	0.101	0.17615	B	.	.	0.472177	0.08418	5.173	0.87910613318515318	0.17573	0.00578	0.02610	N	AEFBI	0.085482	0.17329	N	-1.81953427079195	0.00499	0.02148352	-1.92661621036719	0.00433	0.01917433	0.994071141636979	0.33476	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	-10.2	0.00305	-0.243000	0.08933	-1.140000	0.06212	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1653:0.2878:0.5469:0.0	12.317	0.54285	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	368.98	39	chr1	21978396	.	G	A	368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.11;DP=862;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.37;MQRankSum=-8.055e+00;QD=5.51;ReadPosRankSum=-2.524e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,13:67:99:0|1:21978396_G_A:383,0,2169:21978396	20	0	1	0
chr1	21978398	21978398	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.C73T:p.P25S,	.	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.002	B	0.000	D	0.992	N	1.245	L	2.31	T	-1.047	T	0.038	T	0.323	2.388	13.94	4.17	1.114	0.941	13.200	0.094	0.0100996723404	.	.	0.0002	0	0	0	0.0008	0.0002	0	6.068e-05	3.84e-05	1	26028	rs769262423	0.0014	0.0022	0.0013	0.0015	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0.0009	0.0011	0.0003	0.0033	0.0016	0.0013	0.0017	0.0021	0.0035	0.0048	0.0036	0.0033	0.0057	0.0032	0.0031	0.0052	0.0051	0.0008	0	0.0015	0.0023	0.0006	0.0045	0	0.0057	0.0033	0.0038	0.052	0.39097	T	0.036	0.52060	D	0.001	0.07471	B	0.002	0.06944	B	0.000056	0.53742	D	0.127744	0.991764	0.23986	N	1.565	0.39561	L	2.31	0.16794	T	-5.7	0.87380	D	0.28	0.31702	-1.0466	0.15361	T	0.038	0.16548	T	10	0.08696371	0.14835	T	0.010	0.26235	T	0.094	0.27141	.	.	0.0611884634855	0.05136	0.7483825438036639	0.74784	0.166043844648	0.18736	0.356677532196	0.18901	T	0.028613	0.20688	T	-0.224454	0.17389	T	-0.560189	0.16359	T	0.120394064784545	0.14468	T	0.257074	0.04045	T	0.14659725	0.33551	0.17140582	0.39321	0.14659725	0.33551	0.17140582	0.39320	-5.632	0.43084	T	.	.	0.123	0.25850	B	.	.	1.775219	0.22574	15.68	0.97385492898801918	0.33696	0.28659	0.23614	N	AEFBI	0.252745	0.37236	N	-0.68952758415734	0.16319	0.8303565	-0.69475238898778	0.17090	0.90722	0.365341940087057	0.19817	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	4.17	0.48303	1.431000	0.34534	1.016000	0.23368	0.524000	0.24156	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8383:0.1617:0.0	13.200	0.59185	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	368.98	39	chr1	21978398	.	C	T	368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.69;DP=861;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.65;MQRankSum=-8.055e+00;QD=5.51;ReadPosRankSum=-2.928e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,13:67:99:0|1:21978396_G_A:383,0,2169:21978396	20	0	1	0
chr1	21978416	21978416	A	C	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.A91C:p.N31H,	.	.	423	1089	10	0	0	10	0.00457038	.	.	2812452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.025	B	0.000	D	0.969	D	2.37	M	2.17	T	-1.055	T	0.072	T	0.275	2.645	14.81	5.1	1.924	1.455	12.832	0.145	0.00896937710721	.	0.00319489	0.0012	0.0003	0.0024	0.0009	0.0017	0.0010	0.0022	0.0019	0.0014295	221	154602	rs138865928	0.0020	0.0028	0.0018	0.0021	0.0039	0.0019	0.0019	0.0036	0.0034	0.0012	0.0027	0.0030	0.0007	0.0037	0.0019	0.0017	0.0025	0.0039	0.0044	0.0054	0.0046	0.0042	0.0066	0.0041	0.0040	0.0061	0.0059	0.0016	0	0.0028	0.0029	0.0019	0.0048	0	0.0066	0.0048	0.0063	0.059	0.37536	T	0.051	0.47828	T	0.003	0.11197	B	0.025	0.20508	B	0.000001	0.62929	D	0.054773	0.969413	0.38726	D	2.375	0.68372	M	2.17	0.19020	T	-3.33	0.66206	D	0.498	0.53093	-1.0550	0.13040	T	0.072	0.29130	T	10	0.026186883	0.00791	T	0.008969	0.23631	T	0.145	0.38592	.	.	0.0806252709748	0.07271	0.71909276535124	0.71852	0.196614953336	0.22022	0.645078599453	0.59286	T	0.376937	0.74022	T	-0.528434	0.00392	T	-0.538619	0.18431	T	0.0555485125125992	0.06450	T	0.563244	0.19836	T	0.39449894	0.60350	0.30128324	0.56161	0.39449894	0.60350	0.30128324	0.56160	-8.037	0.61322	D	.	.	0.320	0.54514	B	.	.	3.541128	0.49734	22.8	0.989372278766526	0.48864	0.59085	0.30818	D	AEFGBI	0.535722	0.55423	D	-0.159271809040071	0.34843	1.993903	-0.080455807497522	0.36199	2.103598	0.00486843319821761	0.10742	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	5.1	0.68917	1.276000	0.32760	7.862000	0.71495	-0.117000	0.14459	0.003000	0.16062	1.000000	0.68203	0.787000	0.37188	1.0:0.0:0.0:0.0	12.832	0.57132	798	0.45050	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	172.98	39	chr1	21978416	.	A	C	172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.71;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.59;MQRankSum=-8.008e+00;QD=2.62;ReadPosRankSum=-2.453e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/1:55,11:66:99:187,0,1304	20	0	1	0
chr1	22863072	22863072	G	C	exonic	EPHB2	.	nonsynonymous SNV	EPHB2:NM_001309192:exon4:c.G847C:p.D283H	.	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.863	P	0.000	D	1.000	D	2.645	M	2.33	T	1.023	D	0.928	D	0.55	3.778	19.18	4.97	2.582	6.520	10.542	0.634	0.297585107024	0.0002	0.000399361	0.0003	9.61e-05	0.0002	0	0	0.0003	0	0.0005	0.0002523	39	154602	rs142113032	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0033	0.0028	5.974e-05	0.0003	0	0	1.872e-05	0.0047	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	4.811e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0008	0.003	0.68238	D	0.011	0.64786	D	0.907	0.50062	P	0.863	0.61398	P	0.000000	0.84330	D	0.000000	0.999867	0.50061	D	2.865	0.83145	M	-4.36	0.97538	D	-3.13	0.63901	D	0.265	0.30004	1.023	0.97584	D	0.928	0.97631	D	10	0.16462514	0.30793	T	0.297585	0.90774	D	0.634	0.85975	.	.	0.902570044861	0.90159	0.6393947624844962	0.63874	0.711923238635	0.61746	0.598686218262	0.52719	T	0.082436	0.56719	T	0.0301825	0.55749	T	0.133539	0.79124	D	0.11474635031325	0.13908	T	0.30317	0.06521	T	0.5821111	0.71723	0.569727	0.75087	0.5821111	0.71724	0.569727	0.75087	-13.397	0.90955	D	.	.	0.293	0.53936	B	.;.;.;.;.	.;.;.;.;.	4.712016	0.75714	26.4	0.99539149090040058	0.70398	0.97714	0.76605	D	AEFDBI	0.784575	0.71522	D	0.645503851374795	0.76078	6.420633	0.603275290510256	0.75179	6.264763	0.999985450061189	0.51787	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	6.831000	0.75116	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0888:0.0:0.9112:0.0	10.542	0.44228	588	0.69043	Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like;.;Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like;.;Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2949.11	33	chr1	22863072	.	G	C	2949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.130;DP=900;ExcessHet=0.1072;FS=1.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.93;SOR=0.812	GT:AD:DP:GQ:PL	0/1:46,48:94:99:992,0,1035	19	0	2	0
chr1	22953867	22953867	-	GC	exonic	LACTBL1	.	frameshift insertion	LACTBL1:NM_001289974:exon8:c.915_916insGC:p.L306Afs*167,	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0006	0	0	0.0002689	7	26028	rs753628430	0.0007	0.0007	0.0007	0.0007	0.0111	0.0007	0.0006	0.0089	0.0081	0.0004	0.0004	0.0002	0	2.085e-05	0.0111	0.0008	0.0010	0.0001	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0003	0.0003	0	9.409e-05	0.0102	0.0011	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1651.94	41	chr1	22953867	.	G	GGC	1651.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.130e-01;DP=895;ExcessHet=0.0000;FS=0.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.21;ReadPosRankSum=0.202;SOR=0.776	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1666,0,1479	20	0	1	0
chr1	26255425	26255425	A	G	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001281517:exon3:c.A310G:p.T104A	.	.	.	.	.	.	.	.	.	.	.	2243468	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.001	B	0.290	N	1.000	N	-0.755	N	2.83	T	-0.989	T	0.008	T	0.062	-0.051	3.751	-7.64	-1.393	-0.501	3.300	0.016	0.005683565051	0.0003	.	0.0004	0	8.637e-05	0	0	0.0007	0	0	0.0003622	56	154602	rs146168523	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	0.0001	0.0001	2.987e-05	4.472e-05	0.0087	0	0	0	0.0002	0.0005	0	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0001	2.414e-05	0	0	0.0084	0	0	0	0.0002	0.0010	0	0.666	0.04616	T	0.633	0.07127	T	0.0	0.02946	B	0.001	0.04355	B	0.289564	0.14793	N	0.679170	0.999997	0.19072	N	0	0.06538	N	2.83	0.10771	T	0.09	0.05917	N	0.04	0.01347	-0.9885	0.32978	T	0.008	0.02638	T	10	0.003345102	0.00058	T	0.005684	0.14712	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.09642365408725817	0.09574	0.0742822433672	0.08328	0.292738497257	0.09322	T	0.003669	0.03081	T	-0.607764	0.00131	T	-0.807658	0.01718	T	0.014733603452376	0.00307	T	0.558444	0.19458	T	0.0155957965	0.00147	0.020111764	0.00119	0.0155957965	0.00147	0.020111764	0.00119	-2.509	0.06323	T	.	.	0.056	0.00505	B	.;.;.	.;.;.	0.156535	0.05477	1.945	0.4828738702871615	0.04017	0.03275	0.08317	N	AEFBI	0.033695	0.04045	N	-1.81260194031805	0.00515	0.02216872	-1.77397991701679	0.00846	0.03780586	0.86823361810661	0.25362	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	-7.64	0.01146	-0.465000	0.06757	-0.402000	0.09404	-0.059000	0.16651	0.024000	0.20007	0.001000	0.17328	0.990000	0.65344	0.2135:0.2958:0.3636:0.1271	3.300	0.06568	453	0.79178	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	989.98	35	chr1	26255425	.	A	G	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.679;DP=762;ExcessHet=0.0000;FS=0.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-9.520e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1004,0,730	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,26,13:100:99:0|1:26282323_A_*:975,0,2431,542,1966,3033:26282323	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:70,13,26:109:99:0|1:26282323_A_*:948,542,3433,0,2342,2803:26282323	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,13,26:117:99:0|1:26282323_A_*:924,542,3769,0,2651,3107:26282323	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,26:117:99:0|1:26282323_A_*:924,1129,4355,0,3205,3107:26282323	1	0	7	0
chr1	26797639	26797639	C	T	exonic	PIGV	.	nonsynonymous SNV	PIGV:NM_001374483:exon3:c.C896T:p.P299L	Hyperphosphatasia with mental retardation syndrome 1, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	194475	Hyperphosphatasia_with_intellectual_disability_syndrome_1|not_provided	MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.646	P	0.204	B	0.000	D	1.000	D	2.24	M	-1.72	D	-0.398	T	0.430	T	0.229	2.947	15.82	2.24	0.335	4.394	7.962	0.356	0.0721480124737	0.0015	0.000399361	0.0013	0.0002	0.0003	0	0.0002	0.0014	0.0022	0.0030	0.0012225	189	154602	rs146969255	0.0015	0.0015	0.0013	0.0016	0.0036	0.0014	0.0014	0.0033	0.0031	0.0003	0.0004	3.826e-05	5.038e-05	0.0001	0.0017	0.0015	0.0011	0.0036	0.0012	0.0012	0.0012	0.0011	0.0025	0.0010	0.0010	0.0018	0.0017	0.0002	0	0.0008	0	0.0002	9.423e-05	0	0.0021	0	0.0025	0.047	0.40319	D	0.006	0.70582	D	0.302	0.32608	B	0.111	0.31539	B	0.000131	0.49741	D	0.178400	1	0.81001	D	2.11	0.58565	M	-1.72	0.83241	D	-2.62	0.56301	D	0.202	0.22357	-0.3981	0.72087	T	0.430	0.77245	T	10	0.015038282	0.00316	T	0.072148	0.71457	D	0.356	0.67691	.	.	0.941066324122	0.94045	0.4431815518374925	0.44236	0.170673729105	0.19233	0.419199436903	0.27726	T	0.706181	0.91582	D	-0.327894	0.06272	T	-0.24282	0.50523	T	0.017845059799162	0.00512	T	0.726827	0.34112	T	0.06703719	0.14481	0.088722244	0.20706	0.06703719	0.14480	0.088722244	0.20705	-3.36	0.14523	T	0.2490897256728289	0.33724	0.119	0.24363	B	.;.	.;.	3.653015	0.51852	23.2	0.98936271677537946	0.48845	0.89682	0.50304	D	AEFDBCI	0.739567	0.68408	D	-0.0763593389326116	0.38432	2.25079	-0.0751647769255206	0.36420	2.119288	0.999546994787967	0.40300	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	5.14	2.24	0.27264	3.727000	0.54711	4.873000	0.45587	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.990000	0.65344	0.0:0.7218:0.1325:0.1456	7.962	0.29236	375	0.84013	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	34	chr1	26797639	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=816;ExcessHet=0.0000;FS=9.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-3.380e-01;SOR=1.040	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1218,0,1162	20	0	1	0
chr1	27550705	27550705	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G1411A:p.V471M	Xia-Gibbs syndrome, Autosomal dominant	YES	419	1101	2	0	0	2	0.000907441	.	.	363798	not_provided|AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome|AHDC1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.907	P	0.008	U	0.999	D	0.55	N	0.34	T	-0.827	T	0.131	T	0.169	3.296	17.07	4.42	1.483	1.636	9.960	0.122	.	0.0079	0.00119808	0.0081	0.0022	0.0029	0	0.0051	0.0132	0.0109	0.0004	0.0059702	923	154602	rs147276945	0.0087	0.0087	0.0089	0.0085	0.0103	0.0086	0.0085	0.0101	0.0101	0.0013	0.0017	0.0195	0.0006	0.0034	0.0012	0.0103	0.0064	0.0003	0.0061	0.0061	0.0063	0.0059	0.0104	0.0058	0.0057	0.0097	0.0095	0.0023	0	0.0020	0.0179	0.0004	0.0022	0	0.0104	0.0047	0.0006	0.002	0.72154	D	0.122	0.35710	T	0.998	0.73220	D	0.907	0.64423	P	0.008091	0.31024	U	0.119263	0.999115	0.46101	D	0.695	0.17993	N	0.34	0.58176	T	-0.47	0.15178	N	0.439	0.47765	-0.8274	0.53467	T	0.131	0.44228	T	10	0.00791198	0.00180	T	.	.	.	0.122	0.33800	.	.	0.202312658747	0.19855	0.75339258385176	0.75286	1.35417442726	0.84148	0.58750295639	0.51141	T	0.043653	0.26569	T	-0.44718	0.01173	T	-0.404089	0.32910	T	0.00975113272520393	0.00128	T	0.777822	0.41150	T	0.11213909	0.26494	0.11305348	0.27281	0.092321746	0.21656	0.11687025	0.28212	-7.211	0.55560	T	.	.	0.212	0.44108	B	.;.;.;.;.	.;.;.;.;.	3.284293	0.45011	22.0	0.99870631301675705	0.94815	0.83379	0.42501	D	AEFBHCI	0.265375	0.38252	N	0.314897223366755	0.56913	3.856865	0.323558041132368	0.56927	3.856949	0.999999599768956	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.32	4.42	0.52775	1.442000	0.34656	4.851000	0.45376	0.589000	0.31548	0.669000	0.28339	1.000000	0.68203	0.961000	0.51904	0.0:0.8379:0.0:0.1621	9.960	0.40861	414	0.81871	.;.;.;.;.	.	.	.	.	rs147276945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	950.98	42	chr1	27550705	.	C	T	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.776;DP=918;ExcessHet=0.0000;FS=2.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.161;SOR=0.920	GT:AD:DP:GQ:PL	0/1:43,41:84:99:965,0,942	20	0	1	0
chr1	32771244	32771244	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1888A:p.A630T	.	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.275	N	1.000	N	1.1	L	2.72	T	-0.986	T	0.001	T	0.079	-0.489	1.751	-3.87	-0.879	-0.954	2.183	0.009	.	0.0019	0.0157748	0.0086	0.0076	0.0002	0.0932	0.0012	0.0011	0.0056	0.0038	0.0075355	1165	154602	rs117872916	0.0032	0.0032	0.0031	0.0033	0.0792	0.0031	0.0031	0.0769	0.0759	0.0067	0.0003	0.0024	0.0792	0.0021	0.0030	0.0004	0.0045	0.0048	0.0053	0.0054	0.0047	0.0059	0.0908	0.0050	0.0049	0.0839	0.0811	0.0053	0	0.0012	0.0026	0.0908	0.0012	0	0.0007	0.0058	0.0057	0.422	0.09776	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.274896	0.15056	N	0.492187	1	0.19781	N	0.345	0.11182	N	2.71	0.12055	T	-0.2	0.11008	N	0.062	0.05414	-0.9860	0.33590	T	0.001	0.00287	T	10	0.0017859936	0.00023	T	.	.	.	0.009	0.00846	.	.	0.196089822672	0.19227	0.1885308462771647	0.18771	0.113547634044	0.12816	0.317226052284	0.13000	T	0.002445	0.01836	T	-0.766764	0.00014	T	-0.796702	0.01986	T	3.34079086314887e-05	0.00000	T	0.535046	0.17917	T	0.026457611	0.01705	0.039930258	0.04200	0.026457611	0.01704	0.039930258	0.04200	-4.141	0.26577	T	.	.	0.064	0.01960	B	.;.;.	.;.;.	-1.056966	0.00693	0.020	0.55504421104957669	0.05356	0.03974	0.09385	N	AEFDBCI	0.062961	0.12137	N	-1.47517868184309	0.02026	0.08905271	-1.57036657309363	0.01839	0.08379932	0.999992884666669	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.64	-3.87	0.03939	-1.747000	0.01926	-1.928000	0.04482	-1.556000	0.00955	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.1257:0.2903:0.1273	2.183	0.03643	308	0.87611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1539.11	38	chr1	32771244	.	G	A	1539.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.550e-01;DP=915;ExcessHet=0.1072;FS=0.567;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=0.190;SOR=0.622	GT:AD:DP:GQ:PL	0/1:41,28:69:99:548,0,892	19	0	2	0
chr1	32964396	32964396	G	A	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon1:c.C290T:p.A97V	.	.	472	1041	9	0	0	9	0.00430416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.266	B	0.063	B	.	.	1.000	N	0.345	N	1.53	T	-1.005	T	0.030	T	0.088	-0.383	2.203	-0.228	-0.041	1.639	3.111	0.038	.	.	0.0115815	0.0097	0	0	0.0667	.	0	0.0417	0.0098	0.0007503	116	154602	rs368813522	0.0022	0.0020	0.0021	0.0023	0.0694	0.0021	0.0021	0.0667	0.0656	4.419e-05	0.0002	0.0028	0.0694	0.0021	0.0013	0.0002	0.0039	0.0051	0.0032	0.0033	0.0025	0.0039	0.0762	0.0030	0.0029	0.0699	0.0675	0	0	0.0002	0.0032	0.0762	0.0009	0	0.0004	0.0039	0.0065	0.301	0.15613	T	0.13	0.34716	T	0.174	0.28827	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.52	0.30669	T	-0.49	0.16393	N	0.075	0.04913	-1.0053	0.28368	T	0.030	0.13023	T	9	0.0017747283	0.00023	T	.	.	.	0.038	0.09825	.	.	0.123314135267	0.11883	0.3987242596299398	0.39787	0.432816247524	0.43450	0.86762201786	0.92227	D	0.123703	0.44825	T	-0.685815	0.00044	T	-0.691958	0.06276	T	0.0108935615067181	0.00156	T	0.336266	0.08539	T	0.030421173	0.02704	0.041678023	0.04792	0.030421173	0.02703	0.041678023	0.04792	-5.973	0.46053	T	.	.	0.102	0.20274	B	.;.;.	.;.;.	1.327328	0.17323	13.09	0.96145430819206823	0.28850	0.10379	0.15902	N	AEFDBCIJ	0.049491	0.08555	N	-1.08968595201596	0.06831	0.3156419	-1.15201343682175	0.06731	0.3250254	0.999999022868977	0.74766	0.495885	0.18260	0	0.56911	0.20461	1	0.608004	0.38603	0	0.621717	0.48901	0	.	.	1.94	-0.228	0.12452	1.168000	0.31468	-1.289000	0.05805	0.223000	0.18093	0.003000	0.16062	0.003000	0.18671	0.112000	0.18829	0.1856:0.2853:0.5291:0.0	3.111	0.05976	542	0.72843	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1555.12	17	chr1	32964396	.	G	A	1555.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.637e+00;DP=559;ExcessHet=0.1072;FS=6.975;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.287;SOR=0.326	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1158,0,1147	19	0	2	0
chr1	32964520	32964520	G	T	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon1:c.C166A:p.P56T	.	.	484	1011	24	3	0	30	0.0146199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.001	B	.	.	1.000	N	0.55	N	1.53	T	-0.992	T	0.035	T	0.149	1.131	9.611	0.671	0.240	0.596	2.988	0.011	0.0905282167101	.	.	0	.	.	.	.	.	.	0	0.0012294	32	26028	rs113914269	0.0114	0.0081	0.0116	0.0111	0.0121	0.0112	0.0111	0.0119	0.0118	0.0011	0.0015	0.0009	0	0.0053	0.0110	0.0121	0.0066	0.0108	0.0069	0.0069	0.0077	0.0061	0.0125	0.0066	0.0064	0.0109	0.0106	0.0021	0.0044	0.0013	0.0015	0	0.0078	0	0.0116	0.0054	0.0125	0.007	0.61437	D	0.548	0.09489	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.52	0.30669	T	0.48	0.03140	N	0.099	0.11769	-0.9923	0.32012	T	0.035	0.14987	T	9	0.0041148067	0.00081	T	0.090528	0.75535	D	0.011	0.01250	.	.	.	.	0.5752773355516083	0.57456	0.48616971444	0.47485	0.859681546688	0.91063	D	0.067101	0.33116	T	-0.598122	0.00150	T	-0.624403	0.10843	T	0.0512993875645606	0.05727	T	0.545245	0.19406	T	0.07603554	0.17170	0.084703125	0.19505	0.07603554	0.17170	0.084703125	0.19504	-6.792	0.52603	T	.	.	0.077	0.08948	B	.;.;.	.;.;.	2.457493	0.31654	18.81	0.93418725365160415	0.23185	0.05231	0.11062	N	AEFDBCI	0.029484	0.02791	N	-0.946736287698288	0.09767	0.4636599	-0.926576949785219	0.11468	0.5844069	0.999999979227953	0.74766	0.495885	0.18260	0	0.171818	0.04012	3	0.608004	0.38603	0	0.621717	0.48901	0	.	.	1.63	0.671	0.17097	0.966000	0.28929	8.356000	0.77021	0.272000	0.18543	0.004000	0.16614	1.000000	0.68203	0.649000	0.32665	0.1941:0.2924:0.5135:0.0	2.988	0.05610	542	0.72843	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	608.53	4	chr1	32964520	.	G	T	608.53	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=226;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0636;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=1.29;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,23:38:99:0|1:32964501_T_G:589,0,269:32964501	19	0	2	0
chr1	34761640	34761640	G	A	exonic	GJB4	.	stopgain	GJB4:NM_153212:exon2:c.G386A:p.W129X,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	YES	0	1511	10	1	0	12	0.00395517	.	.	513242	Erythrokeratodermia_variabilis_et_progressiva_2|not_provided|Erythrokeratodermia_variabilis_et_progressiva_1	MONDO:MONDO:0033012,MedGen:C4479618,OMIM:617524|MedGen:C3661900|MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	6.586	37	4.82	1.440	9.694	14.415	.	.	7.7e-05	.	0.0002	9.619e-05	0.0003	0	0	2.999e-05	0	0.0012	0.0001811	28	154602	rs148182439	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0011	0.0010	0	0.0003	0	0	0	0.0014	0.0001	0.0004	0.0013	9.197e-05	9.193e-05	5.138e-05	0.0001	0.0010	5.527e-05	4.364e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226755	0.76415	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.310761	0.99689	46	0.99600453654681542	0.74160	0.98532	0.83788	D	AEFBHCI	0.341075	0.43768	N	0.889484742481834	0.91235	10.782	0.753270357549602	0.86401	8.877397	0.9999999999969	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	4.82	0.61641	9.827000	0.98313	9.960000	0.82789	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0715:0.0:0.9285:0.0	14.415	0.66717	905	0.23532	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1337.98	37	chr1	34761640	.	G	A	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.656;DP=826;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-3.300e-01;SOR=0.956	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1352,0,1346	20	0	1	0
chr1	36282637	36282637	G	A	exonic	THRAP3	.	nonsynonymous SNV	THRAP3:NM_001321473:exon3:c.G74A:p.R25H	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.991	D	0.000	D	1.000	D	1.245	L	2.27	T	-1.129	T	0.096	T	0.646	4.163	21.5	5.76	2.880	6.676	19.331	0.312	0.0219548418032	.	.	4.942e-05	0	0	0	0	7.492e-05	0	6.057e-05	4.53e-05	7	154602	rs577828247	6.088e-05	6.088e-05	5.989e-05	6.188e-05	0.0001	5.028e-05	4.672e-05	5.597e-05	5.11e-05	0	4.472e-05	0	0.0001	0	0	6.835e-05	3.311e-05	4.638e-05	5.916e-05	5.911e-05	6.426e-05	5.383e-05	0.0002	3.079e-05	2.211e-05	4.765e-05	3.339e-05	2.414e-05	0	0	0	0.0002	0	0	0.0001	0	0	0.0	0.91255	D	0.16	0.31427	T	0.999	0.77913	D	0.991	0.79672	D	0.000410	0.44736	D	0.157745	0.999583	0.47691	D	1.1	0.28011	L	2.27	0.17431	T	-2.17	0.49018	N	0.652	0.66272	-1.1290	0.01830	T	0.096	0.36159	T	10	0.33236295	0.50444	T	0.021955	0.44796	T	0.312	0.63375	0.337	0.32654	0.334885890373	0.33091	0.3445540227078299	0.34368	0.543186546507	0.51402	0.770537376404	0.77505	T	0.574855	0.85983	D	-0.135981	0.30531	T	-0.252808	0.49539	T	0.454236447811127	0.30953	T	0.729627	0.34527	T	0.31902105	0.54557	0.30743137	0.56765	0.31902105	0.54557	0.30743137	0.56764	-7.663	0.58750	D	.	.	0.363	0.66347	A	.;.;.	.;.;.	5.133998	0.85931	28.7	0.99848205627326392	0.92750	0.98152	0.80048	D	AEFGBI	0.669937	0.63719	D	0.757642030367013	0.83404	8.008101	0.784649443880171	0.88707	9.683866	0.999951811738422	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	5.892000	0.69531	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.331	0.94276	132	0.94697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1063.98	38	chr1	36282637	.	G	A	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.335;DP=805;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-6.610e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1078,0,1300	20	0	1	0
chr1	37557737	37557737	A	G	exonic	DNALI1	.	nonsynonymous SNV	DNALI1:NM_003462:exon2:c.A216G:p.I72M,	.	.	.	.	.	.	.	.	.	.	.	2338943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.996	D	0.000	D	1.000	N	2.785	M	0.27	T	-0.847	T	0.198	T	0.777	0.938	8.821	0.181	-0.219	0.062	4.435	0.143	0.0380902021183	0.0015	0.000399361	0.0008	0.0007	0.0002	0	0.0002	0.0013	0	6.072e-05	0.0007438	115	154602	rs144577882	0.0012	0.0012	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0014	0.0004	0.0003	3.83e-05	0	7.49e-05	0	0.0015	0.0012	1.16e-05	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0004	0	0.0008	0	0	0.0002	0	0.0015	0	0	0.028	0.46129	D	0.054	0.47097	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	0.27	0.59176	T	-2.79	0.59059	D	0.747	0.74644	-0.8469	0.52182	T	0.198	0.55258	T	10	0.09365544	0.16590	T	0.03809	0.58011	D	0.421	0.73005	.	.	0.158396225186	0.15383	0.7965954312169465	0.79612	0.213251863673	0.23835	0.619795501232	0.55700	T	.	.	.	-0.19336	0.21767	T	-0.0751519	0.65256	T	0.0782050369736902	0.09755	T	0.918608	0.70760	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.70820	P	.	.	2.490687	0.32138	18.95	0.73247392516863252	0.10259	0.58592	0.30683	D	AEFDBI	0.348809	0.44281	N	-0.292882038865773	0.29422	1.63147	-0.328274319583317	0.27190	1.507	0.99994232174901	0.47345	0.660085	0.49399	0	0.547309	0.14657	0	0.662677	0.59975	0	0.655142	0.61905	0	.	.	5.49	0.181	0.14356	0.081000	0.14677	-0.002000	0.13189	-0.966000	0.01961	0.978000	0.35038	0.220000	0.23707	0.840000	0.39645	0.1516:0.4121:0.0:0.4363	4.435	0.10971	913	0.21160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1029.98	35	chr1	37557737	.	A	G	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-6.160e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1044,0,935	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,4,0:4:12:.:.:127,12,0,127,12,127	0	12	8	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:3,0,82:85:99:.:.:2293,2303,2430,119,246,0	0	2	0	0
chr1	52385197	52385197	T	C	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon10:c.A1547G:p.N516S	Meier-Gorlin syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1387113	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.007	B	0.004	B	0.000	N	0.988	D	0.075	N	0.5	T	-1.082	T	0.059	T	0.239	0.821	8.305	0.404	0.124	1.097	6.471	0.036	0.0053146638039	.	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.88e-05	6	154602	rs764441009	2.394e-05	2.394e-05	2.859e-05	1.925e-05	2.788e-05	1.739e-05	1.539e-05	1.998e-05	1.741e-05	0	2.236e-05	3.827e-05	2.519e-05	0	0	2.788e-05	1.656e-05	0	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.618	0.05341	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.10090	B	0.000215	0.47681	N	0.296501	0.988092	0.40703	D	0.955	0.23872	L	0.5	0.55608	T	0.1	0.05810	N	0.158	0.16725	-1.0822	0.06927	T	0.059	0.24834	T	10	0.10159597	0.18573	T	0.005315	0.13587	T	0.036	0.09122	0.305	0.27485	0.545045102275	0.54158	0.14096665721331053	0.14019	0.120071493571	0.13520	0.304356962442	0.11054	T	0.006982	0.06403	T	-0.28416	0.10232	T	-0.460049	0.26594	T	0.0169686401217248	0.00447	T	0.911709	0.68653	D	0.045984738	0.07621	0.04196151	0.04891	0.045984738	0.07620	0.04196151	0.04890	-4.804	0.34638	T	0.15175776788358813	0.17927	0.059	0.00979	B	.;.	.;.	1.415923	0.18319	13.67	0.83592870932581398	0.14811	0.79086	0.39124	D	AEGBCI	0.151979	0.27657	N	-0.610593395629235	0.18625	0.9684874	-0.421357156893997	0.24372	1.334214	0.00744567541271402	0.11467	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	0.404	0.15574	1.096000	0.30587	-0.796000	0.07394	0.665000	0.62972	0.998000	0.41325	0.013000	0.20296	0.995000	0.73285	0.111:0.211:0.0:0.6781	6.471	0.21209	328	0.86572	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	596.98	40	chr1	52385197	.	T	C	596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.096;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.96;ReadPosRankSum=0.261;SOR=0.770	GT:AD:DP:GQ:PL	0/1:46,29:75:99:611,0,1090	20	0	1	0
chr1	52633572	52633572	G	A	exonic	SHISAL2A	.	nonsynonymous SNV	SHISAL2A:NM_001042693:exon1:c.G79A:p.E27K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.994	D	0.668	P	0.039	U	0.933	D	0.345	N	.	.	-0.933	T	0.124	T	0.165	4.531	24.4	2.47	0.690	9.127	13.031	0.198	0.0144075445727	.	0.000399361	2.94e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs547378101	2.742e-06	2.736e-06	1.364e-06	4.133e-06	3.485e-05	6.4e-07	4.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0	0	1.659e-05	3.485e-05	1.97e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.13	0.26740	T	0.151	0.32355	T	0.994	0.66517	D	0.668	0.53048	P	0.039331	0.24182	U	0.320381	0.933339	0.37051	D	.	.	.	.	.	.	-1.7	0.40468	N	0.234	0.26354	-0.9333	0.43650	T	0.124	0.42862	T	9	0.12950629	0.24642	T	0.014408	0.34508	T	0.198	0.48105	0.384	0.40298	0.110078149338	0.10416	0.610610862983082	0.60993	0.421847818605	0.42694	0.887109160423	0.94895	D	0.03854	0.24874	T	-0.217868	0.18285	T	-0.347129	0.39534	T	0.925468564033508	0.58720	D	0.835916	0.50694	T	0.25295836	0.48315	0.2637905	0.52190	0.25295836	0.48315	0.2637905	0.52189	-7.479	0.57463	T	.	.	0.325	0.54897	B	.	.	5.098496	0.85179	28.5	0.99870084524143332	0.94815	0.97733	0.76740	D	ALL	0.865806	0.78502	D	0.236433785899973	0.52972	3.468304	0.241909893282082	0.52189	3.395548	0.999999854023163	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.44	2.47	0.29113	7.343000	0.78559	7.583000	0.61020	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.1639:0.836:0.0	13.031	0.58249	218	0.91525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1001.98	35	chr1	52633572	.	G	A	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.490e-01;DP=805;ExcessHet=0.0000;FS=1.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=1.97;SOR=0.879	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1016,0,1251	20	0	1	0
chr1	62816649	62816649	T	C	exonic	ATG4C	.	nonsynonymous SNV	ATG4C:NM_032852:exon4:c.T235C:p.F79L	.	.	432	1082	7	1	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.993	D	0.979	D	0.000	D	1.000	D	1.885	L	0.92	T	-0.901	T	0.165	T	0.846	5.094	31	5.31	2.126	7.997	15.559	0.469	0.0160781999949	.	.	0.0001	0	0	0	0	0.0001	0	0.0007	0.0001164	18	154602	rs757638400	9.168e-05	9.166e-05	5.855e-05	0.0001	0.0009	7.892e-05	7.367e-05	0.0007	0.0007	0	0	0	0	0	0.0009	4.137e-05	9.938e-05	0.0009	1.971e-05	1.969e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0002	0.017	0.51853	D	0.031	0.55341	D	0.993	0.65571	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.26	0.64354	M	0.92	0.44461	T	-5.65	0.86988	D	0.92	0.92317	-0.9008	0.47910	T	0.165	0.50209	T	10	0.87655836	0.86948	D	0.016078	0.37157	T	0.469	0.76355	0.89	0.97320	0.664565805711	0.66174	0.8302450778673504	0.82983	0.0881398853638	0.09959	0.818254172802	0.84760	D	0.227963	0.83945	T	-0.0972889	0.36874	T	0.0146702	0.71284	D	0.708102285861969	0.41107	D	0.907009	0.67223	D	0.6956678	0.77820	0.64943975	0.79493	0.6956678	0.77821	0.64943975	0.79494	-8.422	0.63911	D	.	.	0.993	0.96661	P	.;.;.;.	.;.;.;.	4.915025	0.80898	27.4	0.99899789771778691	0.97199	0.98110	0.79682	D	AEFBI	0.888979	0.82264	D	0.717021445291663	0.80748	7.363507	0.709535578001239	0.83103	7.934676	0.999988524869231	0.51787	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	7.674000	0.83146	7.712000	0.66855	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.559	0.75969	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3099.08	33	chr1	62816649	.	T	C	3099.08	.	AC=2;AF=0.048;AN=42;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.24;SOR=0.811	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3127,317,0	20	1	0	0
chr1	64470841	64470841	G	C	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_020925:exon1:c.G97C:p.A33P,	.	.	384	1135	3	0	0	3	0.00131984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	0.929	N	.	.	1.92	T	-0.995	T	0.025	T	0.46	0.823	8.314	1.49	0.022	1.701	11.907	0.135	0.0123775814133	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245684551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4844.08	27	chr1	64470841	.	G	C	4844.08	.	AC=2;AF=0.048;AN=42;DP=643;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9997;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.66;SOR=0.857	GT:AD:DP:GQ:PL	1/1:0,169:169:99:4872,506,0	20	1	0	0
chr1	74199718	74199718	A	T	exonic	FPGT;FPGT-TNNI3K	.	nonsynonymous SNV	FPGT-TNNI3K:NM_001112808:exon2:c.A137T:p.D46V	.	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.25	T	0.274	D	0.593	D	0.879	4.275	22.3	4.9	1.959	8.030	13.826	0.801	0.124791761772	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs200157650	0.0001	0.0001	5.99e-05	0.0001	0.0016	8.915e-05	8.4e-05	0.0014	0.0013	0	0	0	0	0	0.0005	3.597e-06	6.623e-05	0.0016	3.282e-05	3.281e-05	2.569e-05	4.027e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000004	0.62929	D	0.000000	1	0.81001	D	3.015	0.86134	M	0.75	0.80214	T	-8.21	0.96839	D	0.906	0.94077	0.274	0.87137	D	0.593	0.85443	D	10	0.38090742	0.54186	T	0.124792	0.80621	D	0.801	0.93504	0.735	0.86806	0.89821584579	0.89720	0.6816163961021032	0.68100	0.203387455224	0.22757	.	.	.	.	.	.	0.102659	0.64579	D	0.355671	0.90539	D	0.485459995347913	0.32097	T	0.928207	0.76932	D	0.3590659	0.57765	0.29257205	0.55284	0.3590659	0.57765	0.29257205	0.55283	-13.283	0.90494	D	.	.	0.866	0.82527	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.074680	0.84663	28.4	0.99382895399208226	0.61979	0.97990	0.78686	D	AEFDGBHCI	0.911593	0.87107	D	0.715243872711393	0.80630	7.337372	0.684256604315644	0.81182	7.467602	0.999999999999998	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	4.9	4.9	0.63643	7.978000	0.87686	11.175000	0.88104	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.826	0.62844	940	0.13648	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2870.11	35	chr1	74199718	.	A	T	2870.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.797;DP=891;ExcessHet=0.1072;FS=2.983;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-4.630e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:47,68:115:99:1526,0,951	19	0	2	0
chr1	74463486	74463486	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon21:c.T2057C:p.I686T	.	.	426	999	89	8	0	105	0.0499287	.	.	983822	TNNI3K-related_disorder|Atrial_conduction_disease|not_provided	.|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.763	P	0.272	B	0.000	D	1.000	D	2.24	M	-1.58	D	0.007	D	0.428	T	0.732	3.531	18.02	5.91	2.260	7.394	16.002	0.612	.	0.0041	0.0209665	0.0169	0.0061	0.0302	0.0441	0.0219	0.0060	0.0220	0.0415	0.015058	2328	154602	rs3737564	0.0085	0.0085	0.0076	0.0095	0.0415	0.0084	0.0084	0.0398	0.0391	0.0061	0.0254	0.0086	0.0415	0.0209	0.0310	0.0034	0.0136	0.0386	0.0098	0.0098	0.0087	0.0109	0.0443	0.0094	0.0092	0.0394	0.0375	0.0060	0	0.0145	0.0101	0.0409	0.0220	0.0170	0.0042	0.0123	0.0443	0.677	0.78490	T	0.002	0.79402	D	0.684	0.41517	P	0.272	0.39956	B	0.000020	0.62929	D	0.116676	0.999935	0.52935	D	2.225	0.63025	M	-1.52	0.81987	D	1.58	0.67477	N	0.512	0.56403	0.007	0.82391	D	0.428	0.77088	T	10	0.008914053	0.00202	T	.	.	.	0.612	0.84826	.	.	.	.	0.6018879179360921	0.73885	0.0332647967301	0.03475	.	.	.	0.54971	0.84731	D	-0.123018	0.32630	T	0.0819324	0.75706	D	0.0199967337014551	0.00700	T	0.890111	0.62362	D	0.66958565	0.76410	0.6346558	0.78674	0.66958565	0.76412	0.6346558	0.78675	-8.973	0.67523	D	0.2936958081766033	0.39050	0.154	0.45883	B	.;.;.	.;.;.	3.562511	0.50129	22.9	0.99666196559818743	0.78266	0.97744	0.76819	D	AEFGBCIJ	0.860783	0.77871	D	0.518357775504104	0.68177	5.181282	0.592106041842497	0.74370	6.125954	0.999999998736648	0.74766	0.554377	0.28877	0	0.624306	0.53593	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	7.443000	0.79636	3.381000	0.38003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.002	0.80097	893	0.26510	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	931.98	37	chr1	74463486	.	T	C	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.708;DP=799;ExcessHet=0.0000;FS=2.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=-1.146e+00;SOR=0.875	GT:AD:DP:GQ:PL	0/1:54,45:99:99:946,0,1158	20	0	1	0
chr1	74706358	74706358	C	T	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001134759:exon7:c.G517A:p.E173K	.	.	437	1047	36	2	0	40	0.0187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.006	B	0.009	B	0.001	N	0.993	N	0.41	N	3.7	T	-0.967	T	0.021	T	0.172	0.172	4.927	1.91	0.504	1.680	10.032	0.036	.	0.0003	0.00379393	0.0028	9.664e-05	0.0005	0.0006	0	0.0006	0.0011	0.0179	0.002445	378	154602	rs149746412	0.0013	0.0014	0.0007	0.0020	0.0180	0.0013	0.0013	0.0173	0.0170	5.984e-05	0.0003	0.0014	0.0003	5.618e-05	0.0083	0.0002	0.0015	0.0180	0.0008	0.0009	0.0004	0.0013	0.0170	0.0007	0.0007	0.0140	0.0129	0.0001	0	0.0002	0.0009	0.0008	0	0.0068	0.0004	0.0024	0.0170	0.53	0.10909	T	0.701	0.05707	T	0.001	0.07471	B	0.001	0.04355	B	0.001396	0.39175	N	0.254298	0.998912	0.23718	N	0.505	0.13445	N	1.05	0.39990	T	-0.9	0.24244	N	0.097	0.15046	-0.9674	0.37733	T	0.021	0.08963	T	10	0.008682281	0.00197	T	.	.	.	0.036	0.09122	.	.	0.439870908748	0.43606	0.6728538042468933	0.67223	0.112942714915	0.12750	0.30759459734	0.11544	T	0.078006	0.35790	T	-0.543529	0.00319	T	-0.539238	0.18372	T	0.0046506914096409	0.00050	T	0.862114	0.59504	D	0.058851995	0.11889	0.062441003	0.12215	0.058851995	0.11888	0.062441003	0.12215	-7.303	0.58576	T	.	.	0.097	0.16756	B	.;.;.;.	.;.;.;.	1.152326	0.15405	11.83	0.86864422938112251	0.16825	0.43102	0.27024	N	AEFBI	0.073552	0.14716	N	-0.907138259915369	0.10674	0.5112207	-0.818598049181867	0.14045	0.7318515	0.172946808966609	0.17762	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.04	1.91	0.24841	1.368000	0.33820	1.957000	0.29917	-1.089000	0.01541	0.955000	0.33325	0.985000	0.30750	0.483000	0.28633	0.0:0.3499:0.4219:0.2281	10.032	0.41282	673	0.60677	.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3243.11	38	chr1	74706358	.	C	T	3243.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=1010;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=1.13;SOR=0.690	GT:AD:DP:GQ:PL	0/1:83,100:183:99:2277,0,1770	19	0	2	0
chr1	74733258	74733258	C	G	exonic	TYW3	.	nonsynonymous SNV	TYW3:NM_001162916:exon1:c.C14G:p.A5G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.135	B	0.051	B	0.007	N	1.000	N	1.21	L	1.47	T	-1.097	T	0.038	T	0.043	1.410	10.65	3.65	2.373	0.768	9.750	0.059	0.0111027846587	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482245307	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	1.16e-05	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.161	0.23631	T	0.223	0.25670	T	0.053	0.22573	B	0.019	0.18783	B	0.007284	0.31484	N	0.338048	1	0.81001	D	1.445	0.36358	L	0.88	0.46028	T	-1.13	0.29727	N	0.161	0.16864	-1.0973	0.04433	T	0.038	0.16462	T	10	0.10139492	0.18522	T	0.011103	0.28373	T	0.059	0.16972	0.447	0.50629	0.151104730317	0.14643	0.1690662602412085	0.16826	0.107556152289	0.12137	0.373705804348	0.21362	T	0.006799	0.06227	T	-0.286382	0.10002	T	-0.649145	0.09015	T	0.237311884760857	0.22295	T	0.646635	0.25786	T	0.15140831	0.34421	0.20996171	0.45363	0.15140831	0.34421	0.20996171	0.45362	-4.668	0.34603	T	.	.	0.120	0.24800	B	.;.	.;.	1.874762	0.23817	16.16	0.98597128175669213	0.43454	0.14961	0.18674	N	ALL	0.150379	0.27466	N	-0.452724377970408	0.23648	1.271365	-0.388588313695473	0.25336	1.392699	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.6	3.65	0.40985	1.482000	0.35094	1.342000	0.25744	0.524000	0.24156	0.727000	0.28892	0.414000	0.24773	0.135000	0.19760	0.0:0.7707:0.2293:0.0	9.750	0.39640	775	0.48401	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	632.98	43	chr1	74733258	.	C	G	632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=795;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.44;ReadPosRankSum=0.454;SOR=0.824	GT:AD:DP:GQ:PL	0/1:45,30:75:99:647,0,991	20	0	1	0
chr1	86372461	86372461	T	C	exonic	ODF2L	.	nonsynonymous SNV	ODF2L:NM_001366779:exon8:c.A497G:p.E166G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.94	D	0.017	N	1.000	N	1.79	L	1.87	T	-1.036	T	0.095	T	0.451	3.796	19.27	4.04	2.098	0.593	9.469	0.113	0.0182010522593	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1476338454	2.958e-06	1.3e-05	0	5.97e-06	0.0005	6.9e-07	4.7e-07	8.635e-05	3.591e-05	0	0	0	0	0	0.0005	0	0	2.956e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.05	0.45393	D	0.016	0.62352	D	0.998	0.73220	D	0.94	0.67560	D	0.017132	0.27801	N	0.379972	0.973844	0.27257	N	2.64	0.77224	M	1.86	0.83970	T	-4.2	0.76094	D	0.171	0.28849	-1.0365	0.18388	T	0.095	0.35765	T	10	0.19439021	0.35247	T	0.018201	0.40183	T	0.129	0.35316	0.25	0.18757	0.738032634337	0.73568	0.2062531485748921	0.20542	0.064537595183	0.07196	0.44394159317	0.31115	T	0.144284	0.48084	T	0.064419	0.60163	T	-0.145243	0.59662	T	0.932592928409576	0.59875	D	0.882412	0.60266	D	0.1503841	0.34238	0.20070241	0.44014	0.1503841	0.34238	0.20070241	0.44013	-5.44	0.41303	T	.	.	0.127	0.29588	B	.;.;.;.;.;.	.;.;.;.;.;.	3.253830	0.44473	21.9	0.9989460062056571	0.96819	0.10193	0.15767	N	AEFBI	0.126103	0.24290	N	-0.00138647876362714	0.41793	2.506187	0.00341250612994611	0.39875	2.370843	0.00180371195351798	0.08901	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.25	4.04	0.46262	0.281000	0.18568	4.885000	0.45705	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.1586:0.0:0.0:0.8414	9.469	0.37993	682	0.59757	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	564.98	30	chr1	86372461	.	T	C	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.074;DP=435;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-4.670e-01;SOR=0.812	GT:AD:DP:GQ:PL	0/1:40,27:67:99:579,0,933	20	0	1	0
chr1	86443872	86443872	T	C	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon10:c.T1574C:p.M525T,	.	.	426	1077	19	0	0	19	0.00874367	.	.	2808989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.0	B	0.712	N	1.000	N	-0.805	N	1.63	T	-0.956	T	0.009	T	0.052	-0.336	2.407	2.18	0.151	0.520	4.935	0.048	0.00279504262655	0.0025	0.000798722	0.0023	0.0005	0.0020	0	0.0002	0.0036	0	0.0004	0.0022057	341	154602	rs141677634	0.0028	0.0028	0.0028	0.0028	0.0344	0.0027	0.0027	0.0304	0.0289	0.0011	0.0018	0.0198	0	9.36e-05	0.0344	0.0027	0.0036	0.0007	0.0024	0.0024	0.0024	0.0023	0.0028	0.0022	0.0021	0.0025	0.0024	0.0009	0	0.0025	0.0193	0	0.0004	0.0238	0.0028	0.0047	0.0004	0.06	0.37326	T	0.083	0.41405	T	0.0	0.02946	B	0.0	0.01387	B	0.711784	0.06262	N	1.137430	1	0.08975	N	-0.895	0.01383	N	1.63	0.28002	T	-1.71	0.40660	N	0.065	0.03726	-0.9560	0.39916	T	0.009	0.03011	T	10	0.014680237	0.00308	T	0.002795	0.05810	T	0.048	0.13305	.	.	0.0297737177859	0.01360	0.21977182883166022	0.21893	0.073835093282	0.08273	0.238926798105	0.02695	T	0.151326	0.49121	T	-0.691688	0.00041	T	-0.770017	0.02768	T	0.0021961248633299	0.00023	T	0.10409	0.00774	T	0.07954704	0.18177	0.15678556	0.36691	0.07954704	0.18177	0.15678556	0.36690	-1.792	0.02485	T	.	.	0.060	0.00904	B	.	.	-0.018265	0.04159	0.998	0.33741051852509218	0.02026	0.03124	0.08070	N	AEFBI	0.048592	0.08308	N	-1.3147722179655	0.03505	0.1566953	-1.22947741326757	0.05441	0.2592956	0.00841463653783094	0.11672	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.66	2.18	0.26813	0.219000	0.17426	0.270000	0.16646	-0.772000	0.03442	0.002000	0.15269	0.000000	0.08366	0.011000	0.09372	0.1418:0.1892:0.0:0.669	4.935	0.13288	737	0.53483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1481.98	55	chr1	86443872	.	T	C	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=973;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.376e+00;SOR=0.747	GT:AD:DP:GQ:PL	0/1:47,67:114:99:1496,0,1024	20	0	1	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,138,0,0:138:99:.:.:6116,417,0,6116,417,6116,6116,417,6116,6116	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,138,0,0:138:99:.:.:6116,417,0,6116,417,6116,6116,417,6116,6116	0	12	6	0
chr1	92177315	92177315	C	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon3:c.C583G:p.P195A	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.875	P	0.415	B	0.000	D	0.974	D	1.845	L	3.31	T	-0.959	T	0.015	T	0.42	2.231	13.42	5.84	2.779	2.099	15.600	0.099	0.0121243115133	.	.	0.0002	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs760964007	4.573e-05	4.378e-05	3.242e-05	5.94e-05	0.0004	3.665e-05	3.335e-05	0.0002	0.0002	0	0.0002	0	0	0.0002	0.0004	1.39e-05	8.607e-05	0.0003	4.6e-05	4.597e-05	2.57e-05	6.727e-05	0.0003	2.11e-05	1.527e-05	8.884e-05	5.391e-05	0	0	0.0003	0	0	0	0	2.94e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000047	0.53742	D	0.123692	0.973776	0.39051	D	.	.	.	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.015	0.05801	T	10	0.104117215	0.19177	T	0.012124	0.30406	T	0.099	0.28413	0.357	0.35897	0.178374595973	0.17440	0.19336578762205991	0.19254	.	.	0.372476458549	0.21187	T	0.044282	0.26768	T	-0.35781	0.04255	T	-0.433673	0.29519	T	0.141355069319058	0.16391	T	0.777022	0.46793	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.;.;.;.	.;.;.;.	3.593611	0.50721	23.0	0.98661791092470619	0.44345	0.93334	0.57939	D	AEFI	0.273920	0.38922	N	0.352888124462399	0.58891	4.064369	0.396226029125661	0.61332	4.331817	0.0968134834808597	0.16263	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.84	5.84	0.93373	1.599000	0.36361	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.8631:0.1369:0.0	15.600	0.76362	734	0.53889	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1330.98	34	chr1	92177315	.	C	G	1330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.299e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-3.000e-02;SOR=0.652	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1345,0,1824	20	0	1	0
chr1	100484348	100484348	G	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319212:exon10:c.G155A:p.R52Q	Deafness, autosomal recessive 105, Autosomal recessive	YES	438	1058	26	0	0	26	0.0121382	.	.	655019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.064	B	0.011	B	0.013	N	1.000	D	0.52	N	3.18	T	-1.008	T	0.006	T	0.336	0.577	7.114	5.77	2.729	2.551	10.909	0.067	.	0.0010	0.00279553	0.0024	0.0002	0.0004	0	0.0002	0.0019	0.0034	0.0089	0.0020828	322	154602	rs28364897	0.0014	0.0015	0.0012	0.0017	0.0112	0.0014	0.0014	0.0090	0.0082	0.0003	0.0005	0.0178	7.699e-05	7.535e-05	0.0112	0.0006	0.0032	0.0079	0.0013	0.0013	0.0013	0.0012	0.0079	0.0011	0.0011	0.0059	0.0052	9.638e-05	0	0.0003	0.0199	0	9.463e-05	0.0034	0.0010	0.0024	0.0079	0.588	0.05844	T	0.764	0.11691	T	0.007	0.14655	B	0.011	0.15521	B	0.012910	0.29014	N	0.417620	0.799534	0.81001	D	0.495	0.13372	N	2.99	0.09262	T	0.31	0.04022	N	0.086	0.06322	-1.0075	0.27696	T	0.006	0.02093	T	10	0.0040360093	0.00078	T	.	.	.	0.067	0.19503	.	.	0.610390267789	0.60725	0.3191335331216652	0.31826	0.172812368073	0.19455	0.393316864967	0.24136	T	0.012179	0.10748	T	-0.514471	0.00473	T	-0.507354	0.21588	T	0.0158800411563387	0.00374	T	0.929307	0.73951	D	0.0688873	0.15046	0.04700738	0.06676	0.07052366	0.15541	0.05272089	0.08742	-6.47	0.52410	T	0.08458565177691202	0.04682	0.089	0.11989	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.299508	0.45283	22.1	0.81189413631035934	0.13563	0.84773	0.43862	D	AEFBI	0.221071	0.34575	N	-0.281820392719237	0.29850	1.659077	-0.0366804278245337	0.38073	2.237921	0.988745731712769	0.31614	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.919000	0.48534	6.661000	0.56247	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0851:0.0:0.9148:0.0	10.909	0.46307	248	0.90287	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.07143	3486.68	44	chr1	100484348	.	G	A	3486.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.06;DP=975;ExcessHet=0.3300;FS=1.991;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.214;SOR=0.820	GT:AD:DP:GQ:PL	0/1:66,66:132:99:1515,0,1407	18	0	3	0
chr1	103533845	103533845	-	A	exonic	RNPC3	.	frameshift insertion	RNPC3:NM_017619:exon3:c.347dupA:p.R120Kfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	229.63	54	chr1	103533844	.	GA	G,GAA	229.63	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-4.500e-01;DP=1214;ExcessHet=1.1607;FS=2.736;InbreedingCoeff=-0.1291;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=-4.790e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/2:40,4,14:60:99:204,294,1919,0,917,926	16	0	4	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:2,105,0:107:99:2811,270,0,2817,314,2861	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:2,105,0:107:99:2811,270,0,2817,314,2861	1	11	8	0
chr1	109336271	109336271	T	C	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_001205228:exon11:c.A929G:p.E310G	.	.	415	1097	10	0	0	10	0.00453721	.	.	2809057	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.061	B	0.014	B	0.049	N	0.656	N	0.55	N	1.5	T	-1.057	T	0.023	T	0.106	2.034	12.76	5.69	2.158	2.476	14.928	0.066	0.0124711557258	0.0010	0.000798722	0.0011	0.0003	0.0003	0	0.0002	0.0014	0.0033	0.0015	0.0010349	160	154602	rs144141753	0.0013	0.0013	0.0012	0.0013	0.0023	0.0012	0.0012	0.0016	0.0015	0.0002	0.0006	7.654e-05	0	0.0002	0.0023	0.0014	0.0013	0.0019	0.0010	0.0010	0.0009	0.0011	0.0017	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0016	0	0	9.416e-05	0.0034	0.0015	0.0009	0.0017	0.236	0.17940	T	0.134	0.36765	T	0.061	0.23190	B	0.014	0.16862	B	0.048910	0.23209	N	0.480610	0.655873	0.30492	N	0.325	0.10370	N	1.5	0.31205	T	-1.99	0.49846	N	0.173	0.18512	-1.0574	0.12414	T	0.023	0.09923	T	10	0.014367729	0.00302	T	0.012471	0.31071	T	0.066	0.19193	.	.	0.168254554758	0.16434	0.5782027026316144	0.57749	0.288233243293	0.31233	0.273800849915	0.06642	T	0.095323	0.39597	T	-0.57606	0.00204	T	-0.613477	0.11704	T	0.020713245384471	0.00771	T	0.829717	0.49530	T	0.18397753	0.39690	0.27595633	0.53537	0.18397753	0.39690	0.27595633	0.53536	-6.169	0.51554	T	.	.	0.103	0.25100	B	.;.	.;.	3.151140	0.42657	21.6	0.99608174192338039	0.74634	0.93277	0.57788	D	AEFBI	0.644807	0.62093	D	-0.271981791002468	0.30235	1.683944	-0.0847305596107092	0.36019	2.091024	0.79598719877217	0.24100	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.579976	0.35079	0	.	.	5.69	5.69	0.88346	2.305000	0.43324	4.991000	0.46528	0.665000	0.62972	0.977000	0.34929	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	14.928	0.70537	637	0.64373	.;Sortilin, N-terminal|VPS10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1273.98	34	chr1	109336271	.	T	C	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.853e+00;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.657;SOR=0.748	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1288,0,1692	20	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:69,38:111:99:321,0,885	0	0	21	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,18:91:18:0|1:145872713_C_G:18,0,2271:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,18:91:18:0|1:145872713_C_G:18,0,2271:145872713	6	0	14	1
chr1	147624175	147624175	C	T	exonic	BCL9	.	nonsynonymous SNV	BCL9:NM_004326:exon10:c.C3497T:p.P1166L,	.	.	411	1109	2	0	0	2	0.000900901	.	.	2683346	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.137	B	0.121	B	0.004	N	1.000	D	0.895	L	0.24	T	-0.951	T	0.101	T	0.487	2.775	15.24	4.43	2.454	5.386	17.597	0.150	0.0141725798355	0.0002	.	0.0001	0	0.0003	0	0	0.0001	0.0012	7.765e-05	9.06e-05	14	154602	rs139128167	6.89e-05	6.84e-05	5.886e-05	7.907e-05	0.0033	5.754e-05	5.364e-05	0.0022	0.0018	0.0003	0.0001	0	0	0	0.0033	4.521e-05	0.0002	8.258e-05	9.847e-05	9.842e-05	8.993e-05	0.0001	0.0003	6.001e-05	4.875e-05	8.867e-05	5.28e-05	2.405e-05	0	0.0003	0	0	0	0	0.0001	0.0009	0	0.012	0.54683	D	0.016	0.60972	D	0.137	0.27402	B	0.121	0.32300	B	0.003557	0.34793	N	0.275088	1	0.81001	D	1.955	0.52871	M	0.24	0.59583	T	-2.66	0.56945	D	0.599	0.61764	-0.9511	0.40782	T	0.101	0.37468	T	10	0.2859348	0.46176	T	0.014173	0.34105	T	0.150	0.39571	.	.	0.204265027416	0.20035	0.5373702496575625	0.53662	0.0822271247088	0.09269	0.697402358055	0.66769	T	0.404801	0.76116	T	-0.171642	0.24985	T	-0.215028	0.53213	T	0.0746884688869209	0.09294	T	0.948305	0.80045	D	0.20528845	0.42665	0.15510249	0.36373	0.20528845	0.42665	0.15510249	0.36372	-6.44	0.49821	T	.	.	0.104	0.18828	B	.	.	4.172104	0.62744	24.5	0.99623347410051288	0.75533	0.99072	0.90815	D	AEFDBI	0.536312	0.55458	D	0.0616358069222407	0.44679	2.737611	0.210891310199491	0.50450	3.237014	0.999999999084414	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.43	4.43	0.52967	5.467000	0.66468	5.987000	0.52266	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.597	0.87914	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1208.98	34	chr1	147624175	.	C	T	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=804;ExcessHet=0.0000;FS=1.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-2.210e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1223,0,1263	20	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:236,64:300:99:883,0,5772	1	0	20	0
chr1	150159129	150159129	G	A	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_001304723:exon5:c.G320A:p.R107Q	.	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.905	P	0.267	B	0.014	N	0.984	D	1.7	L	0.72	T	-1.061	T	0.070	T	0.343	3.911	19.89	4.97	2.576	3.972	13.188	0.075	.	0.0066	0.00519169	0.0102	0.0021	0.0025	0.0001	0.0194	0.0116	0.0170	0.0160	0.0094307	1458	154602	rs41264971	0.0088	0.0088	0.0084	0.0092	0.0179	0.0087	0.0086	0.0172	0.0169	0.0009	0.0029	0.0022	0.0001	0.0215	0.0094	0.0085	0.0083	0.0179	0.0066	0.0066	0.0067	0.0065	0.0135	0.0063	0.0061	0.0109	0.0099	0.0016	0.0011	0.0021	0.0023	0	0.0193	0.0034	0.0091	0.0038	0.0135	0.054	0.47745	T	0.267	0.31225	T	0.905	0.49920	P	0.267	0.39770	B	0.014129	0.28625	N	0.351400	0.984405	0.40141	D	2.135	0.59519	M	0.72	0.50976	T	-1.43	0.35194	N	0.374	0.41557	-1.0613	0.11434	T	0.070	0.28577	T	10	0.0047944784	0.00101	T	.	.	.	0.075	0.21907	.	.	.	.	0.18990143602419438	0.18908	0.464578811842	0.45924	0.511497855186	0.40431	T	0.030915	0.44076	T	-0.406135	0.02109	T	-0.342536	0.40057	T	0.00607151602267701	0.00067	T	0.808919	0.46506	T	0.106724344	0.25235	0.06900925	0.14484	0.106724344	0.25235	0.06900925	0.14484	-3.939	0.22888	T	.	.	0.102	0.17869	B	.;.	.;.	3.784036	0.54430	23.5	0.99942678426939813	0.99848	0.83582	0.42690	D	ALL	0.714528	0.66698	D	0.357264008198067	0.59123	4.089313	0.408174213897655	0.62074	4.416803	0.99999999999741	0.74766	0.730579	0.87903	0	0.672317	0.65289	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	4.97	4.97	0.65419	3.396000	0.52309	11.733000	0.95036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.1598:0.8402:0.0	13.188	0.59118	330	0.86467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	579.98	35	chr1	150159129	.	G	A	579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=779;ExcessHet=0.0000;FS=0.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-1.627e+00;SOR=0.856	GT:AD:DP:GQ:PL	0/1:34,25:59:99:594,0,743	20	0	1	0
chr1	150629064	150629064	-	A	exonic	ENSA	.	frameshift insertion	ENSA:NM_207045:exon1:c.41dupT:p.E15Rfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1011.94	38	chr1	150629064	.	T	TA	1011.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.520e-01;DP=825;ExcessHet=0.0000;FS=1.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-1.045e+00;SOR=0.466	GT:AD:DP:GQ:PL	0/1:36,33:69:99:1026,0,1141	20	0	1	0
chr1	150823203	150823203	G	C	exonic	ARNT	.	nonsynonymous SNV	ARNT:NM_001197325:exon13:c.C1340G:p.T447S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.618	P	0.245	B	0.000	D	1.000	D	1.41	L	2.18	T	-1.100	T	0.031	T	0.423	3.040	16.15	5.63	2.814	7.732	20.053	0.102	0.0138255976363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.368	0.16570	T	0.477	0.36687	P	0.245	0.38823	B	0.000003	0.62929	D	0.105206	0.999995	0.58761	D	1.275	0.32135	L	2.18	0.18875	T	-2.25	0.50337	N	0.533	0.56145	-1.1003	0.04055	T	0.031	0.13504	T	10	0.35188848	0.52029	T	0.013826	0.33526	T	0.102	0.29158	0.557	0.67547	0.431114715335	0.42728	0.2944380058737869	0.29356	0.548320089044	0.51777	0.604680597782	0.53565	T	0.174712	0.52404	T	-0.0917897	0.37780	T	-0.369626	0.36932	T	0.829880237579346	0.48521	D	0.890911	0.62511	D	0.50772554	0.67546	0.5266784	0.72653	0.50772554	0.67547	0.5266784	0.72654	-5.787	0.45033	T	.	.	0.267	0.51218	B	.;.;.;.	.;.;.;.	4.397633	0.67920	25.2	0.9807955783855552	0.38094	0.98613	0.84704	D	AEFBI	0.897337	0.83940	D	0.258256168962068	0.54048	3.571483	0.420450200219689	0.62840	4.50647	0.999969234503664	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.895000	0.85911	11.844000	0.97886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.053	0.97633	67	0.97183	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	869.98	35	chr1	150823203	.	G	C	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.790e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.232;SOR=0.722	GT:AD:DP:GQ:PL	0/1:22,36:58:99:884,0,514	20	0	1	0
chr1	151045801	151045801	C	T	exonic	BNIPL	.	nonsynonymous SNV	BNIPL:NM_001159642:exon8:c.C610T:p.R204W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.832	P	0.000	D	1.000	D	2.485	M	1.76	T	-0.985	T	0.089	T	0.613	2.652	14.83	4.07	1.292	1.359	10.363	0.235	0.0744329020003	.	.	2.471e-05	9.614e-05	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs764413830	1.437e-05	1.436e-05	1.497e-05	1.375e-05	8.961e-05	9.23e-06	7.84e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	3.744e-05	0	1.259e-05	3.312e-05	0	3.943e-05	3.938e-05	2.571e-05	5.379e-05	0.0001	1.716e-05	1.13e-05	4.733e-05	3.049e-05	0.0001	0	0	0	0	9.445e-05	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.832	0.59730	P	0.000001	0.62929	D	0.055024	0.999863	0.50061	D	2.725	0.79712	M	1.76	0.25996	T	-7.44	0.94872	D	0.799	0.79503	-0.9853	0.33760	T	0.089	0.34271	T	10	0.5268693	0.62959	D	0.074433	0.72040	D	0.235	0.53788	.	.	0.710593507571	0.70806	0.794128529416293	0.79365	1.02964464637	0.75386	0.520278811455	0.41666	T	0.358923	0.72540	T	-0.19219	0.21936	T	-0.234409	0.51343	T	0.984615743160248	0.75865	D	0.945705	0.79334	D	0.925225	0.93761	0.9356964	0.97483	0.925225	0.93761	0.9356964	0.97483	-11.343	0.81506	D	.	.	0.350	0.56586	A	.;.;.	.;.;.	4.554072	0.71695	25.7	0.99895876302571385	0.96895	0.85548	0.44692	D	AEFDBI	0.505257	0.53648	D	0.341550308258676	0.58294	4.000902	0.23361093530973	0.51722	3.352308	0.999992851264735	0.74766	0.421363	0.06395	0	0.547309	0.14657	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	4.99	4.07	0.46726	1.225000	0.32154	1.895000	0.29544	0.596000	0.33519	0.829000	0.30118	0.932000	0.28569	0.278000	0.23967	0.3576:0.6424:0.0:0.0	10.363	0.43191	120	0.95183	.;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	622.98	35	chr1	151045801	.	C	T	622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=767;ExcessHet=0.0000;FS=0.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.81;MQRankSum=0.00;QD=9.58;ReadPosRankSum=0.722;SOR=0.933	GT:AD:DP:GQ:PL	0/1:37,28:65:99:637,0,753	20	0	1	0
chr1	152304741	152304741	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G10145A:p.R3382H,	Ichthyosis vulgaris, Autosomal dominant	.	0	1476	43	3	0	49	0.0163279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.883	P	0.27	B	.	.	1.000	N	1.255	L	5.52	T	-0.975	T	0.001	T	0.117	1.397	10.60	-0.834	-0.105	-0.480	2.986	0.022	0.00462545530395	.	.	0.0020	9.612e-05	0.0004	0	0.0015	0.0014	0.0033	0.0082	0.0005379	14	26028	rs538503381	0.0007	0.0018	0.0006	0.0008	0.0039	0.0006	0.0006	0.0036	0.0035	0.0002	0.0007	0.0005	0	0.0019	0.0034	0.0004	0.0010	0.0039	0.0010	0.0015	0.0009	0.0011	0.0034	0.0008	0.0008	0.0021	0.0018	0.0001	0	0.0015	0.0009	0	0.0009	0.0068	0.0012	0.0010	0.0034	0.149	0.24758	T	.	.	.	0.883	0.48537	P	0.27	0.39872	B	.	.	.	.	1	0.08975	N	1.19	0.30124	L	5.52	0.00903	T	-0.1	0.08495	N	0.108	0.09349	-0.9747	0.36191	T	0.001	0.00287	T	9	0.007396579	0.00168	T	0.004625	0.11440	T	0.022	0.04323	.	.	0.141422826196	0.13715	0.023661763232786695	0.02318	.	.	0.214774474502	0.01030	T	0.014649	0.12428	T	-0.340482	0.05355	T	-0.726855	0.04471	T	0.00516087918524473	0.00056	T	0.467153	0.13745	T	0.022516126	0.00921	0.029107658	0.01212	0.022516126	0.00921	0.029107658	0.01212	-1.949	0.02994	T	.	.	0.089	0.12084	B	.	.	0.306583	0.06821	3.344	0.88431515061627186	0.17971	0.00053	0.00405	N	AEFBI	0.017940	0.00507	N	-0.94943907464144	0.09705	0.4605021	-1.12421512287398	0.07239	0.351394	1.26186836394157E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.24	-0.834	0.10234	-0.588000	0.05867	.	.	-0.380000	0.05395	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.303:0.2384:0.4586	2.986	0.05603	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	956.98	33	chr1	152304741	.	C	T	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.012;DP=4602;ExcessHet=0.0000;FS=10.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.34;MQRankSum=-7.244e+00;QD=8.62;ReadPosRankSum=-2.330e-01;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,29:111:99:0|1:152304734_C_T:971,0,3346:152304734	20	0	1	0
chr1	152304750	152304750	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G10136C:p.R3379T,	Ichthyosis vulgaris, Autosomal dominant	.	0	1478	41	3	0	47	0.015651	.	.	1195851	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.573	P	0.28	B	.	.	1.000	N	1.185	L	5.54	T	-0.982	T	0.001	T	0.155	-0.253	2.782	-0.788	-0.311	-1.202	3.156	0.033	0.00388584276816	.	0.000998403	0.0019	9.61e-05	0.0004	0	0.0015	0.0013	0.0033	0.0077	0.000461	12	26028	rs201591837	0.0005	0.0015	0.0004	0.0006	0.0031	0.0005	0.0005	0.0028	0.0027	0.0001	0.0005	0.0004	0	0.0014	0.0026	0.0003	0.0007	0.0031	0.0008	0.0014	0.0007	0.0009	0.0030	0.0007	0.0006	0.0018	0.0014	0.0001	0	0.0010	0.0003	0	0.0010	0.0034	0.0010	0.0010	0.0030	0.213	0.19430	T	.	.	.	0.573	0.38659	P	0.28	0.40294	B	.	.	.	.	1	0.08975	N	1.135	0.28956	L	5.54	0.00885	T	-0.04	0.07590	N	0.093	0.07262	-0.9823	0.34468	T	0.001	0.00255	T	9	0.007597655	0.00173	T	0.003886	0.09117	T	0.033	0.08068	.	.	0.115124310173	0.11017	0.025666013359611037	0.02517	.	.	0.251855075359	0.03966	T	0.014472	0.12316	T	-0.633111	0.00091	T	-0.68946	0.06420	T	0.0161739120759866	0.00392	T	0.330167	0.06908	T	0.04063355	0.05837	0.04006708	0.04246	0.04063355	0.05836	0.04006708	0.04246	-1.999	0.03177	T	.	.	0.145	0.32054	B	.	.	0.028474	0.04481	1.195	0.58047302028256498	0.05904	0.01253	0.04406	N	AEFBI	0.036869	0.04982	N	-1.21304293304196	0.04809	0.2178675	-1.356998709844	0.03723	0.1743007	1.26306756204176E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.61	-0.788	0.10387	-1.319000	0.02810	.	.	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4795:0.2276:0.293	3.156	0.06116	558	0.71484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	902.98	33	chr1	152304750	.	C	G	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.076e+00;DP=4605;ExcessHet=0.0000;FS=10.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.24;MQRankSum=-8.670e+00;QD=7.92;ReadPosRankSum=-1.875e+00;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,28:114:99:0|1:152304734_C_T:917,0,3507:152304734	20	0	1	0
chr1	152304753	152304753	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G10133A:p.G3378E,	Ichthyosis vulgaris, Autosomal dominant	.	0	1478	41	3	0	47	0.015651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.031	B	0.034	B	.	.	1.000	N	-0.18	N	5.32	T	-0.973	T	0.001	T	0.073	-0.218	2.946	0.936	0.077	-0.079	4.220	0.013	0.00458790294519	.	0.000998403	0.0019	9.61e-05	0.0005	0	0.0015	0.0013	0.0033	0.0074	0.000461	12	26028	rs572712926	0.0004	0.0013	0.0003	0.0004	0.0021	0.0003	0.0003	0.0018	0.0017	8.965e-05	0.0004	0.0003	0	0.0010	0.0021	0.0002	0.0004	0.0020	0.0007	0.0014	0.0007	0.0007	0.0026	0.0006	0.0006	0.0015	0.0012	0.0001	0	0.0010	0.0003	0	0.0009	0.0034	0.0009	0.0010	0.0026	0.958	0.02107	T	.	.	.	0.031	0.20130	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	-0.88	0.01436	N	5.32	0.01079	T	0.39	0.03521	N	0.033	0.00882	-0.9731	0.36540	T	0.001	0.00188	T	9	0.0062407255	0.00141	T	0.004588	0.11346	T	0.013	0.01715	.	.	0.115124310173	0.11017	0.005314283512494033	0.00502	.	.	0.290736794472	0.09030	T	0.014558	0.12369	T	-0.707857	0.00033	T	-0.802794	0.01833	T	0.00166803658036593	0.00017	T	0.338666	0.07278	T	0.03736391	0.04777	0.06571817	0.13359	0.03736391	0.04777	0.06571817	0.13359	-2.589	0.06420	T	.	.	0.078	0.06663	B	.	.	-0.258691	0.02805	0.385	0.55946745466822789	0.05448	0.00031	0.00285	N	AEFBI	0.016056	0.00339	N	-1.53434825808309	0.01628	0.07119062	-1.54400511015104	0.02017	0.09219377	1.2854531983775E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.08	0.936	0.18613	-0.174000	0.09830	.	.	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3986:0.0:0.6014	4.220	0.10006	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	890.98	33	chr1	152304753	.	C	T	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=4609;ExcessHet=0.0000;FS=8.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.33;MQRankSum=-8.861e+00;QD=7.55;ReadPosRankSum=-2.083e+00;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,28:118:99:0|1:152304734_C_T:905,0,3619:152304734	20	0	1	0
chr1	152304765	152304765	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A10121G:p.D3374G,	Ichthyosis vulgaris, Autosomal dominant	.	0	1484	35	3	0	41	0.0136258	.	.	2352417	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.003	B	.	.	1.000	N	-2.535	N	5.49	T	-0.987	T	0.000	T	0.07	-0.139	3.321	-0.877	-0.528	.	0.440	0.044	0.00473787840188	.	.	0.0011	9.61e-05	0.0003	0	0.0008	0.0010	0.0011	0.0035	0.0001921	5	26028	rs753688433	0.0002	0.0010	0.0001	0.0002	0.0012	0.0002	0.0001	0.0009	0.0008	5.976e-05	0.0001	0.0002	0	0.0005	0.0012	8.284e-05	0.0003	0.0011	0.0004	0.0012	0.0004	0.0005	0.0019	0.0004	0.0003	0.0010	0.0008	0.0001	0	0.0006	0.0003	0	0.0004	0.0034	0.0005	0.0005	0.0019	1.0	0.00964	T	.	.	.	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-2.285	0.00100	N	5.49	0.00930	T	0.68	0.02228	N	0.047	0.01911	-0.9868	0.33396	T	0.000	0.00039	T	9	0.012164116	0.00262	T	0.004738	0.11816	T	0.044	0.11924	.	.	0.0806252709748	0.07271	0.01733273350379487	0.01688	.	.	0.264890789986	0.05488	T	0.015755	0.13153	T	-0.704715	0.00034	T	-0.820429	0.01444	T	0.00965315548901425	0.00126	T	0.348865	0.07732	T	0.022342669	0.00891	0.048453115	0.07201	0.022342669	0.00890	0.048453115	0.07200	1.714	0.00068	T	.	.	0.077	0.06525	B	.	.	-0.481773	0.01927	0.162	0.48126424217392599	0.03991	0.00023	0.00238	N	AEFBI	0.011980	0.00119	N	-1.87870017008546	0.00380	0.01631601	-1.81107222392347	0.00724	0.03227847	1.55066592889783E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.45	-0.877	0.10083	-0.743000	0.04950	.	.	-1.011000	0.01765	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1993:0.3416:0.1956:0.2635	0.440	0.00452	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	575.98	33	chr1	152304765	.	T	C	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.488e+00;DP=4611;ExcessHet=0.0000;FS=3.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.17;MQRankSum=-8.796e+00;QD=4.88;ReadPosRankSum=-2.431e+00;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,21:118:99:0|1:152304734_C_T:590,0,3810:152304734	20	0	1	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,55,0:225:99:.:.:903,0,5516,1414,5681,7095	10	0	10	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/1:28,49,0,0:77:99:1842,0,985,1942,1132,3074,1942,1132,3074,3074	3	4	8	2
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:75,29:104:10:10,0,1139	6	0	15	0
chr1	153958458	153958458	C	T	exonic	CRTC2	.	nonsynonymous SNV	CRTC2:NM_181715:exon1:c.G40A:p.A14T,	.	.	335	1185	2	0	0	2	0.00084317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.001	B	0.040	N	0.919	N	0.205	N	1.72	T	-0.976	T	0.011	T	0.061	2.107	13.00	1.95	0.112	0.734	3.051	0.040	0.0142115482014	.	.	1.757e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs769771284	8.214e-06	8.893e-06	4.087e-06	1.238e-05	0.0001	4.38e-06	3.46e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	0	1.658e-05	0.0001	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.18	0.35537	T	0.254	0.25514	T	0.0	0.02946	B	0.001	0.04355	B	0.040408	0.24061	N	0.414158	0.998887	0.27329	N	0	0.06538	N	1.72	0.26588	T	0.68	0.33197	N	0.152	0.15609	-0.9762	0.35860	T	0.011	0.03949	T	10	0.08677277	0.14782	T	0.014212	0.34172	T	0.040	0.10527	0.205	0.12076	0.0675242888579	0.06100	0.6501147416362517	0.64947	0.221196391155	0.24664	0.671936392784	0.63114	T	0.291806	0.66455	T	-0.50437	0.00540	T	-0.70259	0.05685	T	0.0753184381267831	0.09379	T	0.669433	0.29593	T	0.056572344	0.11148	0.10459365	0.25124	0.056572344	0.11148	0.10459365	0.25123	-6.676	0.51629	T	.	.	0.100	0.28778	B	.;.	.;.	0.843043	0.12148	8.698	0.97867399136567368	0.36506	0.54219	0.29562	D	AEFGBHCIJ	0.114945	0.22621	N	-0.876159895964635	0.11411	0.5505516	-0.718093169520175	0.16510	0.873748	0.999999999785677	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.98	1.95	0.25130	1.620000	0.36586	0.515000	0.19114	-0.987000	0.01865	0.986000	0.36153	0.121000	0.22902	0.274000	0.23868	0.1446:0.5616:0.1397:0.1541	3.051	0.05797	69	0.97055	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	633.98	34	chr1	153958458	.	C	T	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=-1.630e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/1:53,32:85:99:648,0,1152	20	0	1	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:2,42,40,0,15,0,0:101:99:3154,1395,1138,1233,0,1456,3047,1438,1487,3230,2318,836,954,2563,2620,3047,1438,1487,3230,2563,3230,3047,1438,1487,3230,2563,3230,3230	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:2,42,40,0,15,0,0:101:99:3154,1395,1138,1233,0,1456,3047,1438,1487,3230,2318,836,954,2563,2620,3047,1438,1487,3230,2563,3230,3047,1438,1487,3230,2563,3230,3230	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:2,42,40,0,15,0,0:101:99:3154,1395,1138,1233,0,1456,3047,1438,1487,3230,2318,836,954,2563,2620,3047,1438,1487,3230,2563,3230,3047,1438,1487,3230,2563,3230,3230	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:2,42,40,0,15,0,0:101:99:3154,1395,1138,1233,0,1456,3047,1438,1487,3230,2318,836,954,2563,2620,3047,1438,1487,3230,2563,3230,3047,1438,1487,3230,2563,3230,3230	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:2,42,40,0,15,0,0:101:99:3154,1395,1138,1233,0,1456,3047,1438,1487,3230,2318,836,954,2563,2620,3047,1438,1487,3230,2563,3230,3047,1438,1487,3230,2563,3230,3230	0	1	0	0
chr1	155029273	155029273	G	C	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon8:c.C1302G:p.D434E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.817	P	0.372	B	0.001	N	0.970	N	2.015	M	1.49	T	-1.050	T	0.033	T	0.687	1.150	9.685	4.17	1.113	1.652	9.942	0.161	0.0139974002674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.0	0.92824	D	0.817	0.45613	P	0.372	0.43610	B	0.001071	0.40389	N	0.167175	0.969994	0.25726	N	2.675	0.78361	M	1.49	0.31470	T	-1.4	0.34596	N	0.727	0.72835	-1.0505	0.14258	T	0.033	0.14290	T	10	0.62417406	0.68147	D	0.013997	0.33816	T	0.161	0.41658	0.674	0.81200	0.17948927462	0.17512	0.6456541934053105	0.64500	0.360637865408	0.37730	0.497379153967	0.38463	T	0.097868	0.40113	T	-0.0086475	0.50455	T	-0.250198	0.49797	T	0.883245944976807	0.53341	D	0.683432	0.29175	T	0.07427531	0.16658	0.08153132	0.18537	0.07427531	0.16658	0.08153132	0.18536	-11.131	0.80371	D	.	.	0.548	0.66682	A	.	.	3.144839	0.42545	21.6	0.92237701208793643	0.21614	0.82894	0.42062	D	AEFBCI	0.381165	0.46353	N	0.0730207930767078	0.45206	2.78113	0.110010546298301	0.45059	2.775942	0.996970439281518	0.35164	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.09	4.17	0.48303	2.040000	0.40824	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0993:0.0:0.9007:0.0	9.942	0.40752	264	0.89640	Dendritic cell-specific transmembrane protein-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	35	chr1	155029273	.	G	C	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.540e-01;DP=794;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=1.95;SOR=0.687	GT:AD:DP:GQ:PL	0/1:44,56:100:99:1212,0,918	20	0	1	0
chr1	158652571	158652571	C	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon23:c.G3271C:p.A1091P,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.007	N	1.000	D	2.35	M	0.21	T	-0.317	T	0.356	T	0.916	4.979	29.1	5.21	2.722	4.962	17.501	0.543	0.189188174775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.006559	0.31955	N	0.000000	1	0.81001	D	3.005	0.85968	M	0.21	0.59983	T	-4.21	0.75776	D	0.867	0.86404	-0.3168	0.74511	T	0.356	0.71881	T	10	0.9235935	0.91710	D	0.189188	0.86047	D	0.543	0.80960	0.752	0.88237	0.847815033353	0.84635	0.8614089977129892	0.86104	0.243668225337	0.26869	0.683357298374	0.64751	T	0.692392	0.91068	D	0.299143	0.82899	D	0.191922	0.82678	D	0.995458364486694	0.87455	D	0.752925	0.37500	T	0.9427935	0.95532	0.9255177	0.96783	0.9427935	0.95532	0.9255177	0.96784	-11.24	0.80958	D	0.7227345628681306	0.80392	0.977	0.90609	P	.;.	.;.	4.288278	0.65375	24.8	0.99780095318702455	0.86693	0.98107	0.79657	D	AEFGBI	0.853602	0.77057	D	0.775340336010476	0.84542	8.31683	0.739224692975231	0.85351	8.554286	0.999999987283579	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	5.242000	0.65211	4.861000	0.45471	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	17.501	0.87628	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	91.9	94	chr1	158652571	.	C	G	91.9	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.158e+00;DP=2340;ExcessHet=0.3300;FS=273.274;InbreedingCoeff=-0.1106;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=0.823;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,26:99:6:.:.:6,0,1160	15	0	3	3
chr1	160164403	160164403	G	-	exonic	ATP1A4	.	frameshift deletion	ATP1A4:NM_144699:exon7:c.1026delG:p.L344Cfs*9,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.118e-05	0	8.637e-05	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs770225721	2.873e-05	2.873e-05	3.131e-05	2.613e-05	0.0001	2.151e-05	1.908e-05	5.805e-05	3.952e-05	0	0.0001	3.826e-05	0	0	0	2.788e-05	1.656e-05	3.478e-05	4.597e-05	4.594e-05	3.854e-05	5.373e-05	0.0003	2.108e-05	1.526e-05	0.0001	8.281e-05	0	0	0.0003	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	907.94	36	chr1	160164402	.	AG	A	907.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.160e-01;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.350e-01;SOR=0.602	GT:AD:DP:GQ:PL	0/1:35,33:68:99:922,0,971	20	0	1	0
chr1	160945264	160945264	G	A	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon8:c.C854T:p.P285L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.951	D	0.004	U	1.000	D	3.1	M	2.6	T	-0.930	T	0.088	T	0.601	2.782	15.26	4.17	2.014	4.255	14.351	0.264	0.00346740517504	7.7e-05	.	1.688e-05	0	0	0	0	1.523e-05	0	6.575e-05	1.29e-05	2	154602	rs372070533	3.417e-05	3.352e-05	3.054e-05	3.784e-05	7.381e-05	2.616e-05	2.357e-05	3.147e-05	2.485e-05	3.184e-05	0	0	0	0	0	3.712e-05	1.689e-05	7.381e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0.0002	0.003	0.68238	D	0.011	0.64786	D	0.994	0.66517	D	0.951	0.68939	D	0.004247	0.33945	U	0.113903	0.999971	0.53665	D	3.48	0.92553	M	2.6	0.13204	T	-7.35	0.94620	D	0.404	0.44474	-0.9303	0.44095	T	0.088	0.34023	T	10	0.4403708	0.58062	T	0.003467	0.07847	T	0.264	0.57741	.	.	0.463672176093	0.45992	0.32992956969676157	0.32905	0.187649354563	0.21084	0.520156681538	0.41648	T	0.209959	0.57032	T	-0.124978	0.32310	T	-0.297318	0.45008	T	0.733626365661621	0.42399	D	0.871813	0.57812	D	0.29728448	0.52659	0.3357113	0.59382	0.29728448	0.52659	0.3357113	0.59381	-6.424	0.49696	T	.	.	0.160	0.35288	B	.	.	2.925576	0.38855	20.8	0.99753891194050281	0.84460	0.77465	0.38091	D	ALL	0.395297	0.47221	N	0.441973494100598	0.63749	4.614716	0.255437700284434	0.52959	3.467414	0.999999999690804	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.17	4.17	0.48303	4.331000	0.59057	1.139000	0.24389	0.526000	0.24426	1.000000	0.71638	0.845000	0.27336	0.203000	0.21983	0.0:0.0:1.0:0.0	14.351	0.66266	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	33	chr1	160945264	.	G	A	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.100e-01;DP=799;ExcessHet=0.0000;FS=1.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=0.774;SOR=0.506	GT:AD:DP:GQ:PL	0/1:53,41:94:99:885,0,1244	20	0	1	0
chr1	161222980	161222980	-	ACGGT	exonic	APOA2	.	stopgain	APOA2:NM_001643:exon3:c.122_123insACCGT:p.T42Pfs*2,	Apolipoprotein A-II deficiency (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	3.84e-05	1	26028	rs751969683	6.84e-06	6.84e-06	9.528e-06	4.125e-06	8.093e-06	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.093e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1229.94	34	chr1	161222980	.	C	CACGGT	1229.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.545;DP=763;ExcessHet=0.0000;FS=3.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.92;ReadPosRankSum=1.51;SOR=1.076	GT:AD:DP:GQ:PL	0/1:33,32:65:99:1244,0,1289	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,70,0:70:99:.:.:2090,208,0,2090,208,2090	2	5	6	0
chr1	176769739	176769739	C	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon16:c.C4456G:p.L1486V,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.243	B	0.084	B	0.008	N	1.000	D	1.95	M	0.8	T	-0.965	T	0.128	T	0.332	2.499	14.32	5.26	1.621	3.566	10.686	0.080	0.00598091918837	.	0.00159744	0.0009	0	0	0	0	0	0	0.0066	0.0007568	117	154602	rs529392985	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	0	0	0	0	0	0.0002	0	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	2.406e-05	0	0	0	0	0	0	0	0	0.0062	0.259	0.16628	T	0.281	0.21612	T	0.243	0.30970	B	0.084	0.29270	B	0.008440	0.30846	N	0.266767	0.96783	0.38620	D	2.52	0.73523	M	0.8	0.48769	T	0.15	0.05310	N	0.474	0.50958	-0.9647	0.38270	T	0.128	0.43605	T	10	0.009782225	0.00220	T	0.005981	0.15608	T	0.080	0.23350	0.493	0.58048	0.503186968135	0.49956	0.5397896276182833	0.53903	0.317629529523	0.34004	0.321066856384	0.13583	T	0.277173	0.64978	T	-0.446204	0.01189	T	-0.411799	0.32018	T	0.0794183740579461	0.09912	T	0.871013	0.57621	D	0.07877099	0.17957	0.075339094	0.16576	0.07877099	0.17957	0.075339094	0.16576	-11.632	0.83012	D	.	.	0.143	0.31558	B	.	.	2.028670	0.25781	16.89	0.98961560782221769	0.49344	0.87979	0.47712	D	AEFBI	0.306519	0.41364	N	0.117830961232743	0.47294	2.957223	0.25453870620679	0.52909	3.462572	0.812679377439708	0.24383	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.17	5.26	0.73479	3.643000	0.54109	0.595000	0.19862	0.597000	0.34315	1.000000	0.71638	0.111000	0.22795	0.995000	0.73285	0.0:0.7991:0.1318:0.0691	10.686	0.45039	729	0.54495	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1437.98	42	chr1	176769739	.	C	G	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=787;ExcessHet=0.0000;FS=5.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=-3.120e-01;SOR=1.205	GT:AD:DP:GQ:PL	0/1:40,57:97:99:1452,0,804	20	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	D	.	.	.	.	.	.	.	.	.	0.905	8.680	3.14	1.963	2.159	6.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	528.34	34	chr1	179903964	.	A	C	528.34	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.394e+00;DP=1049;ExcessHet=1.7912;FS=123.470;InbreedingCoeff=-0.1775;MLEAC=6;MLEAF=0.150;MQ=59.88;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.52;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,16:72:99:0|1:179903957_A_C:142,0,1605:179903957	14	0	6	1
chr1	180825229	180825229	G	A	exonic	XPR1	.	nonsynonymous SNV	XPR1:NM_001135669:exon9:c.G1019A:p.S340N	Basal ganglia calcification, idiopathic, 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.034	B	0.062	B	0.000	D	0.963	N	1.065	L	0.95	T	-1.046	T	0.069	T	0.055	1.617	11.36	4.61	1.327	0.618	4.235	0.126	0.00513232446854	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs550012177	2.736e-06	2.736e-06	0	5.501e-06	3.479e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.479e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.233	0.18122	T	0.309	0.19782	T	0.004	0.20480	B	0.027	0.26930	B	0.000033	0.55875	D	0.191449	0.962535	0.26062	N	1.04	0.26193	L	0.95	0.43279	T	-1.05	0.27463	N	0.196	0.25130	-1.0456	0.15650	T	0.069	0.28346	T	10	0.04782027	0.04150	T	0.005132	0.13032	T	0.126	0.34673	0.486	0.56939	0.043077524339	0.03247	0.2666217005668681	0.26575	0.789032246817	0.65677	0.484620720148	0.36693	T	0.159068	0.50235	T	-0.465977	0.00901	T	-0.670451	0.07580	T	0.197426840662956	0.20273	T	0.667233	0.27634	T	0.13390881	0.31131	0.10566862	0.25406	0.13390881	0.31131	0.10566862	0.25406	-4.369	0.29244	T	0.14714436419790136	0.17029	0.186	0.42448	B	.;.	.;.	1.826417	0.23208	15.93	0.97295778076999428	0.33252	0.27794	0.23376	N	AEFBI	0.136314	0.25694	N	-0.412915621967041	0.25016	1.354905	-0.280100490163027	0.28753	1.60568	0.0247745626186223	0.13602	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.52	4.61	0.56724	0.923000	0.28364	2.552000	0.33269	0.676000	0.76740	0.320000	0.25502	1.000000	0.68203	0.998000	0.85391	0.0792:0.1317:0.5408:0.2483	4.235	0.10073	583	0.69484	EXS, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	821.98	37	chr1	180825229	.	G	A	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.983;DP=802;ExcessHet=0.0000;FS=1.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=-3.650e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/1:64,41:105:99:836,0,1410	20	0	1	0
chr1	182952868	182952868	G	0	exonic	SHCBP1L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1967.41	33	chr1	182952868	.	G	T,*	1967.41	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.32;DP=1005;ExcessHet=0.1072;FS=1.032;InbreedingCoeff=-0.0633;MLEAC=1,1;MLEAF=0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=0.460;SOR=0.776	GT:AD:DP:GQ:PL	0/1:80,75,0:155:99:1981,0,1669,2219,1894,4113	18	0	1	1
chr1	183110556	183110556	A	G	exonic	LAMC1	.	nonsynonymous SNV	LAMC1:NM_002293:exon4:c.A923G:p.K308R,	.	.	415	1103	4	0	0	4	0.00180995	.	.	3210640	LAMC1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.581	P	0.537	P	0.000	N	1.000	D	0.645	N	0.03	T	-0.845	T	0.202	T	0.177	4.066	20.9	4.87	1.815	6.054	14.456	0.188	0.0168773435562	0.0004	0.000199681	0.0006	0.0002	0.0014	0	0	0.0007	0.0033	0	0.0006404	99	154602	rs139092535	0.0005	0.0005	0.0005	0.0006	0.0092	0.0005	0.0005	0.0072	0.0065	0.0005	0.0014	0.0068	0	0	0.0092	0.0004	0.0010	5.798e-05	0.0006	0.0006	0.0007	0.0006	0.0013	0.0005	0.0005	0.0009	0.0007	0.0002	0	0.0013	0.0084	0	0	0.0238	0.0004	0.0024	0.0002	0.467	0.08559	T	0.085	0.54934	T	0.581	0.38837	P	0.537	0.48765	P	0.000000	0.84330	N	0.046632	0.999991	0.58761	D	1.15	0.29295	L	0.03	0.62183	T	-0.99	0.26200	N	0.233	0.26233	-0.8453	0.52291	T	0.202	0.55877	T	10	0.012073934	0.00261	T	0.016877	0.38341	T	0.188	0.46444	.	.	0.626761088415	0.62371	0.5527098187172761	0.55196	0.463862040873	0.45876	0.734150886536	0.72114	T	0.059698	0.31187	T	-0.39801	0.02386	T	-0.385023	0.35133	T	0.0395096673278562	0.03603	T	0.943706	0.78720	D	0.14024384	0.32365	0.12798876	0.30799	0.14024384	0.32365	0.12798876	0.30798	-5.226	0.39205	T	.	.	0.094	0.14293	B	.;.	.;.	3.420855	0.47502	22.5	0.99845275229127561	0.92489	0.96647	0.70197	D	AEFBI	0.723029	0.67277	D	0.0536246997248693	0.44309	2.70734	0.137124146079827	0.46463	2.891925	0.999999981444955	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.719019	0.79029	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	6.071000	0.70862	8.103000	0.76564	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.456	0.66993	451	0.79296	Laminin EGF domain|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	0	0	0	0	0	0	0	0	0	0	0	0.02381	824.98	34	chr1	183110556	.	A	G	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.380e+00;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.50;ReadPosRankSum=-2.083e+00;SOR=0.691	GT:AD:DP:GQ:PL	0/1:81,46:127:99:839,0,1884	20	0	1	0
chr1	196779219	196779219	G	A	exonic	CFHR3	.	nonsynonymous SNV	CFHR3:NM_001166624:exon2:c.G116A:p.R39H	.	.	232	1286	2	2	0	6	0.00232739	.	.	1686156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.695	P	.	.	1.000	N	2.015	M	-0.64	T	-0.779	T	0.284	T	0.339	1.082	9.417	-3.45	-0.484	-0.542	0.342	0.248	0.0180505150821	0.0002	0.000199681	0.0002	0	8.79e-05	0.0005	0	0.0002	0.0012	0	0.0001552	24	154602	rs377742193	0.0002	0.0002	0.0002	0.0001	0.0022	0.0001	0.0001	0.0012	0.0009	0	0.0001	0	0.0002	0	0.0022	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	9.054e-05	7.46e-05	0.0002	0.0001	0	0	0	0	0.0002	0	0	0.0002	0.0005	0.0003	0.12	0.32769	T	0.485	0.32249	T	0.966	0.62325	D	0.637	0.53983	P	.	.	.	.	1	0.08975	N	2.32	0.66415	M	-0.64	0.72125	T	0.23	0.04861	N	0.049	0.17691	-0.7795	0.56331	T	0.284	0.65577	T	9	0.08579424	0.14519	T	0.018051	0.39980	T	0.248	0.55615	.	.	0.728988515233	0.72658	0.4926468735221098	0.49185	0.191058906287	0.21425	0.38585665822	0.23083	T	0.050428	0.28592	T	-0.285711	0.10071	T	-0.347856	0.39450	T	0.0273205277056228	0.01590	T	0.728327	0.34315	T	0.015815971	0.00159	0.016959947	0.00023	0.0080455	0.00000	0.020369785	0.00132	-8.984	0.68191	D	.	.	0.138	0.34580	B	.;.;.;.	.;.;.;.	0.590613	0.09593	6.365	0.98464046904748426	0.41780	0.00057	0.00426	N	AEFDHI	0.116612	0.22879	N	-0.769248923838574	0.14116	0.7005925	-1.03189496735515	0.09087	0.4502267	3.46813612838478E-4	0.06626	0.743674	0.98306	0	0.615948	0.52940	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	2.86	-3.45	0.04479	-0.228000	0.09119	-1.261000	0.05879	-0.345000	0.05644	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3346:0.1998:0.2696:0.1959	0.342	0.00312	535	0.73288	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	1599.71	33	chr1	196779219	.	G	A	1599.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=746;ExcessHet=0.0000;FS=2.247;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-4.400e-01;SOR=0.853	GT:AD:DP:GQ:PL	0/1:59,68:127:99:1613,0,1186	18	0	1	2
chr1	201209540	201209647	GGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	-	exonic	IGFN1	.	nonframeshift deletion	IGFN1:NM_001164586:exon12:c.4647_4754del:p.E1556_S1591del,	.	.	426	1075	15	0	6	21	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0	0	0	0.0073	0	0.0014	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	3.963e-05	0.0004	0.0221	0	0	0.0011	0.0001	0.0017	0.0011	0.0015	0.0012	0.0015	0.0015	0.0029	0.0013	0.0012	0.0014	0.0010	0.0002	0	0.0007	0.0425	0	0	0	0.0003	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7193.51	294	chr1	201209539	.	CGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	GGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG,C	7193.51	.	AC=5,1;AF=0.250,0.050;AN=20;BaseQRankSum=3.28;DP=5820;ExcessHet=1.7912;FS=3.273;InbreedingCoeff=-0.3775;MLEAC=8,2;MLEAF=0.400,0.100;MQ=58.68;MQRankSum=-1.180e+01;QD=4.16;ReadPosRankSum=-5.710e+00;SOR=1.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,25,0:180:99:0|1:201209539_C_G:545,0,6170,1021,6253,7352:201209539	4	0	5	11
chr1	201209552	201209552	A	0	exonic	IGFN1	.	.	.	.	.	427	1062	28	0	5	33	0.0130112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6307.61	317	chr1	201209552	.	A	G,*	6307.61	.	AC=5,1;AF=0.417,0.083;AN=12;BaseQRankSum=-1.020e-01;DP=6709;ExcessHet=1.7912;FS=4.049;InbreedingCoeff=-0.4737;MLEAC=9,2;MLEAF=0.750,0.167;MQ=58.39;MQRankSum=-1.237e+01;QD=3.47;ReadPosRankSum=-6.142e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,37,0:199:99:0|1:201209539_C_G:913,0,6305,1433,6474,8176:201209539	0	0	5	15
chr1	201809175	201809175	A	G	exonic	NAV1	.	nonsynonymous SNV	NAV1:NM_001167738:exon18:c.A3037G:p.M1013V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.004	B	0.003	B	0.003	N	0.960	D	0.205	N	3.34	T	-0.951	T	0.013	T	0.827	1.031	9.210	5.39	2.045	4.107	15.082	0.142	0.0056310173081	.	.	4.942e-05	0	0.0005	0	0	0	0	0	3.88e-05	6	154602	rs747443259	1.163e-05	1.163e-05	8.169e-06	1.513e-05	0.0003	7.09e-06	5.79e-06	0.0001	9.194e-05	0	0.0002	0	0	0	0.0003	4.497e-06	0	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	0.418	0.09896	T	0.591	0.08189	T	0.004	0.12183	B	0.003	0.08700	B	0.002582	0.36278	N	0.305245	0.888125	0.38150	D	0	0.06538	N	3.34	0.06063	T	-0.64	0.22078	N	0.674	0.68169	-0.9509	0.40816	T	0.013	0.05177	T	10	0.26070324	0.43522	T	0.005631	0.14560	T	0.142	0.37995	.	.	0.763179157214	0.76102	0.29321314121344794	0.29234	0.373155265943	0.38788	0.655606746674	0.60782	T	0.032206	0.22383	T	-0.183049	0.23284	T	-0.203154	0.54347	T	0.0632180253661476	0.07666	T	0.790621	0.43364	T	0.10560951	0.24970	0.0978594	0.23311	0.10560951	0.24970	0.0978594	0.23310	-3.019	0.11342	T	.	.	0.096	0.34949	B	.;.;.	.;.;.	3.451954	0.48069	22.6	0.84821331798566346	0.15518	0.96447	0.69184	D	AEFDBI	0.461902	0.51147	N	-0.176364924417373	0.34121	1.943754	0.0491273068236125	0.42030	2.535142	0.957341197313647	0.28298	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	4.117000	0.57623	10.997000	0.84734	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	1.0:0.0:0.0:0.0	15.082	0.71794	294	0.88270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	906.98	38	chr1	201809175	.	A	G	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.770e-01;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.197;SOR=0.626	GT:AD:DP:GQ:PL	0/1:42,47:89:99:921,0,902	20	0	1	0
chr1	202148682	202148682	G	A	exonic	PTPN7	.	nonsynonymous SNV	PTPN7:NM_001364878:exon9:c.C1007T:p.T336M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.13	M	2.18	T	-0.618	T	0.189	T	0.939	4.355	22.9	5.15	2.392	8.926	16.401	0.667	0.300605116737	.	.	1.679e-05	0	8.761e-05	0	0	0	0	6.142e-05	1.29e-05	2	154602	rs781093850	1.574e-05	1.642e-05	1.362e-05	1.788e-05	0.0002	1.048e-05	8.75e-06	1.012e-05	8.35e-06	0	2.238e-05	0	2.52e-05	0	0.0002	1.619e-05	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.034	0.56192	D	1.0	0.90584	D	0.998	0.88582	D	0.000022	0.55875	D	0.000000	0.999899	0.58761	D	.	.	.	2.18	0.18875	T	-5.52	0.85994	D	0.844	0.86191	-0.6181	0.64067	T	0.189	0.54079	T	10	0.87545156	0.86832	D	0.300605	0.90869	D	0.667	0.87625	.	.	0.561027722634	0.55763	0.617582545577373	0.61690	0.679948637296	0.59958	0.770737707615	0.77535	T	0.682228	0.90681	D	0.199236	0.73821	D	0.156069	0.80564	D	0.97398042678833	0.70320	D	0.987701	0.95793	D	.	.	.	.	.	.	.	.	-10.879	0.80002	D	.	.	0.478	0.66996	A	.;.;.	.;.;.	5.500409	0.91581	32	0.99902441421915555	0.97426	0.97180	0.73161	D	AEFBHCI	0.916947	0.88386	D	0.9226995864736	0.92826	11.65263	0.850582954148592	0.93051	11.793	0.999999999571609	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	9.043000	0.93270	11.720000	0.94800	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.401	0.83478	834	0.38640	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	871.98	34	chr1	202148682	.	G	A	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.978;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=1.66;SOR=0.693	GT:AD:DP:GQ:PL	0/1:44,40:84:99:886,0,900	20	0	1	0
chr1	206685381	206685381	G	T	exonic	MAPKAPK2	.	nonsynonymous SNV	MAPKAPK2:NM_004759:exon1:c.G152T:p.G51V	.	.	256	1256	10	0	0	10	0.00396511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.989	D	0.68	P	.	.	1.000	D	0	N	-0.33	T	-0.985	T	0.153	T	0.063	2.513	14.36	2.36	0.546	0.225	9.126	0.127	.	0.0002	0.0279553	0.0136	0	0.0005	0.0001	0	0.0001	0.0024	0.0981	0.0112353	1737	154602	rs146073998	0.0055	0.0055	0.0031	0.0079	0.0857	0.0054	0.0053	0.0840	0.0833	0.0003	0.0001	0	3.245e-05	0	0.0029	0.0001	0.0070	0.0857	0.0033	0.0032	0.0018	0.0048	0.0976	0.0030	0.0029	0.0904	0.0875	0.0002	0	0	0	0	0	0	8.946e-05	0.0005	0.0976	0.06	0.37326	T	0.071	0.47097	T	0.984	0.62824	D	0.68	0.53472	P	.	.	.	.	0.999989	0.54805	D	0.345	0.11182	N	-0.33	0.68754	T	-0.68	0.19509	N	0.041	0.01421	-0.9847	0.33903	T	0.153	0.48222	T	9	0.0013119876	0.00014	T	.	.	.	0.127	0.34888	.	.	.	.	0.175511379790726	0.17470	1.36617559106	0.84444	0.868062615395	0.92291	D	0.130329	0.45915	T	-0.560288	0.00253	T	-0.509048	0.21412	T	0.036292017674448	0.03032	T	0.79922	0.44465	T	0.2844373	0.51471	0.13150962	0.31578	0.2844373	0.51471	0.13150962	0.31577	0.589	0.00195	T	.	.	0.124	0.26042	B	.;.	.;.	2.133326	0.27159	17.37	0.98488490128843242	0.42061	0.13210	0.17726	N	ALL	0.210308	0.33621	N	-0.469745816540533	0.23076	1.23667	-0.507541030825225	0.21948	1.189749	0.999999888101224	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	3.32	2.36	0.28258	0.160000	0.16278	5.140000	0.47705	0.523000	0.23987	0.016000	0.19238	1.000000	0.68203	0.948000	0.49324	0.0:0.4431:0.5569:0.0	9.126	0.35973	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1022.98	42	chr1	206685381	.	G	T	1022.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=810;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.43;SOR=0.547	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1037,0,925	20	0	1	0
chr1	210329072	210329072	G	C	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170587:exon1:c.G62C:p.R21P,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.774	P	.	.	1.000	N	0	N	2.14	T	-1.051	T	0.040	T	0.254	3.024	16.09	1.37	-0.017	0.074	5.454	0.038	0.00928470718782	.	.	0.0019	0	0	0	0	0.0003	0	0.0044	0.0001358	21	154602	rs757118759	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0002	0.0017	0.0016	0	0.0002	0.0010	0	0	0.0008	7.624e-05	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0004	0.0003	2.412e-05	0	0.0007	0.0012	0	0	0	0.0002	0.0005	0.0008	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	2.14	0.19450	T	-0.53	0.16393	N	0.436	0.47487	-1.0513	0.14036	T	0.040	0.17319	T	9	0.0045894384	0.00096	T	0.009285	0.24366	T	0.038	0.09825	0.215	0.13498	0.215109475489	0.21095	0.42814527604079894	0.42731	0.154635715267	0.17468	.	.	.	.	.	.	-0.495205	0.00608	T	-0.490889	0.23298	T	0.0868333156934729	0.10838	T	0.366163	0.08539	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.093	0.14062	B	.	.	1.207552	0.16000	12.25	0.98654475965990152	0.44233	0.03570	0.08781	N	ALL	0.087434	0.17729	N	-0.537937898270118	0.20864	1.103048	-0.711998110538121	0.16662	0.8824934	0.999999972071946	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	3.3	1.37	0.21200	0.096000	0.14986	0.179000	0.15609	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.651000	0.32720	0.2817:0.0:0.7183:0.0	5.454	0.15874	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	565.98	33	chr1	210329072	.	G	C	565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.780;DP=743;ExcessHet=0.0000;FS=1.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.890e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/1:20,24:44:99:580,0,438	20	0	1	0
chr1	211673637	211673637	C	T	exonic	NEK2	.	nonsynonymous SNV	NEK2:NM_001204182:exon3:c.G401A:p.G134D	.	.	431	1084	7	0	0	7	0.00321839	.	.	1002459	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.313	B	0.067	B	0.000	D	1.000	D	0.845	L	-0.71	T	-0.766	T	0.183	T	0.396	3.307	17.12	5.23	2.591	3.078	16.193	0.144	0.014068036672	0.0004	0.00139776	0.0007	0.0010	0.0016	0	0	0.0008	0.0011	0.0001	0.0007503	116	154602	rs146297864	0.0007	0.0007	0.0006	0.0007	0.0099	0.0006	0.0006	0.0078	0.0071	0.0019	0.0019	0.0011	0	3.744e-05	0.0099	0.0006	0.0013	0.0003	0.0007	0.0006	0.0007	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0.0006	0	0.0020	0.0006	0	0	0	0.0005	0.0043	0.0002	0.082	0.33254	T	0.068	0.45318	T	0.001	0.30213	B	0.003	0.27542	B	0.000003	0.62929	D	0.140627	0.999999	0.58761	D	0.92	0.23413	L	-0.73	0.73100	T	-2.31	0.51319	N	0.26	0.29659	-0.7660	0.57077	T	0.183	0.53179	T	10	0.011698395	0.00254	T	0.014068	0.33936	T	0.144	0.38394	.	.	0.712730015121	0.71021	0.4039658871646054	0.40312	0.516391962885	0.49530	0.698876559734	0.66981	T	0.032866	0.52654	T	-0.313888	0.07409	T	-0.236885	0.51101	T	0.023527654371772	0.01086	T	0.763424	0.39120	T	0.42187703	0.62217	0.3635728	0.61742	0.42187703	0.62217	0.3635728	0.61741	-6.84	0.53558	T	.	.	0.261	0.52500	B	.;.;.	.;.;.	2.685011	0.35034	19.79	0.99433556986104144	0.64374	0.93292	0.57827	D	AEFBI	0.476293	0.51977	N	-0.0337977612407845	0.40329	2.393147	0.147076617811273	0.46987	2.93588	0.999999998976107	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	3.177000	0.50572	3.965000	0.40779	0.530000	0.24713	0.986000	0.36153	0.999000	0.35428	0.996000	0.76049	0.0:0.867:0.133:0.0	16.193	0.81824	878	0.29785	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1575.98	63	chr1	211673637	.	C	T	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.268;SOR=0.687	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1590,0,1162	20	0	1	0
chr1	213167885	213167885	C	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001136138:exon6:c.C827A:p.A276D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.525	M	-0.82	T	0.285	D	0.587	D	0.827	4.554	24.6	4.72	1.385	5.871	14.298	0.707	0.224537362519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.736e-06	2.724e-06	2.752e-06	0.0002	6.4e-07	4.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0.0002	0	0	3.487e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.76	0.80626	M	-0.82	0.74053	T	-4.24	0.79915	D	0.753	0.88027	0.285	0.87316	D	0.587	0.85211	D	10	0.840824	0.83239	D	0.224537	0.87955	D	0.707	0.89514	0.506	0.60078	0.919786250494	0.91897	0.5940201403582391	0.59332	0.496641408072	0.48171	0.787792980671	0.80107	T	0.368637	0.73349	T	0.272634	0.80675	D	0.153843	0.80426	D	0.995561122894287	0.87656	D	0.937906	0.76702	D	0.7728378	0.82218	0.6889074	0.81699	0.7728378	0.82220	0.6889074	0.81700	-15.749	0.97423	D	.	.	0.825	0.85713	P	.;.;.;.;.	.;.;.;.;.	4.878869	0.79994	27.2	0.9977364846220742	0.86088	0.96853	0.71294	D	AEFI	0.619124	0.60467	D	0.729461602825787	0.81564	7.551826	0.677955729715748	0.80707	7.359376	0.154568239150446	0.17495	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.63	4.72	0.59248	5.553000	0.66992	5.935000	0.51384	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9294:0.0:0.0706	14.298	0.65878	536	0.73233	MIT|MIT;MIT|MIT;MIT|MIT;MIT|MIT;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	871.98	36	chr1	213167885	.	C	A	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.247;DP=812;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=0.376;SOR=0.803	GT:AD:DP:GQ:PL	0/1:44,40:84:99:886,0,997	20	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.954	D	0.000	D	1.000	D	1.975	M	0.6	T	-0.423	T	0.324	T	0.434	5.220	33	5.46	2.579	8.461	18.965	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	396.55	55	chr1	220074013	.	G	A	396.55	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.491e+00;DP=1720;ExcessHet=2.5830;FS=279.111;InbreedingCoeff=-0.3038;MLEAC=9;MLEAF=0.281;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.665;SOR=11.761	GT:AD:DP:GQ:PL	0/1:66,30:96:49:49,0,995	9	0	7	5
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:44,52,0:103:99:1988,0,1650,2143,1826,4051	8	0	12	0
chr1	225859264	225859264	T	C	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon15:c.A1309G:p.T437A,	.	.	428	1082	12	0	0	12	0.00551471	.	.	1709657	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	1.0	D	0.996	D	0.000	D	1.000	D	3.06	M	1.57	T	-0.603	T	0.236	T	0.799	4.366	23.0	5.24	1.987	5.902	15.121	0.364	0.0165538578836	0.0004	0.000399361	0.0008	0	0.0002	0	0.0015	0.0008	0	0.0016	0.0006662	103	154602	rs149848059	0.0007	0.0007	0.0006	0.0007	0.0033	0.0006	0.0006	0.0022	0.0018	8.961e-05	0.0002	0.0040	0	0.0017	0.0033	0.0005	0.0009	0.0016	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0004	0.0007	0.0005	2.411e-05	0	0.0003	0.0043	0	0.0010	0	0.0006	0.0019	0.0015	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.91	0.84121	M	1.57	0.29342	T	-4.88	0.81350	D	0.741	0.74098	-0.6026	0.64710	T	0.236	0.60355	T	10	0.04238665	0.02983	T	0.016554	0.37860	T	0.364	0.68407	.	.	0.397838977388	0.39401	0.8697822686528869	0.86943	0.745040649288	0.63462	0.623672246933	0.56247	T	0.094788	0.39487	T	-0.200704	0.20704	T	-0.0743041	0.65318	T	0.0936489957348904	0.11644	T	0.999883	0.99972	D	0.80730873	0.84377	0.68790513	0.81642	0.80730873	0.84378	0.68790513	0.81643	-11.597	0.82832	D	0.5821562219136742	0.64898	0.691	0.72585	P	.	.	4.614181	0.73203	26.0	0.99811349838816488	0.89531	0.97909	0.78046	D	AEFBI	0.691830	0.65170	D	0.739429626177363	0.82215	7.707942	0.68285554828568	0.81080	7.443284	0.999174914721863	0.38651	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.883000	0.69466	7.645000	0.63394	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.121	0.72119	749	0.51929	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	39	chr1	225859264	.	T	C	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.521e+00;DP=891;ExcessHet=0.0000;FS=2.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=0.477;SOR=0.692	GT:AD:DP:GQ:PL	0/1:59,47:106:99:937,0,1346	20	0	1	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	12956.77	99	chr1	240207641	.	T	C,*	12956.77	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=0.528;DP=1591;ExcessHet=3.2961;FS=0.558;InbreedingCoeff=-0.1667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=59.90;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.299;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,3,17:51:99:0|1:240207632_G_*:602,606,1916,0,1211,1250:240207632	10	1	8	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5665.43	76	chr1	240207775	.	C	T,*	5665.43	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=0.155;DP=1288;ExcessHet=0.1504;FS=0.973;InbreedingCoeff=0.0933;MLEAC=6,1;MLEAF=0.214,0.036;MQ=55.45;MQRankSum=2.61;QD=21.46;ReadPosRankSum=0.00;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,2,0:12:13:.:.:13,0,237,43,243,286	9	1	3	7
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6200.34	61	chr1	240207785	.	A	T,*	6200.34	.	AC=6,1;AF=0.214,0.036;AN=28;BaseQRankSum=0.505;DP=1124;ExcessHet=0.3860;FS=0.432;InbreedingCoeff=0.0463;MLEAC=8,1;MLEAF=0.286,0.036;MQ=54.15;MQRankSum=1.73;QD=18.13;ReadPosRankSum=0.388;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,3,0:10:49:.:.:49,0,169,69,178,248	8	1	4	7
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	5214.49	31	chr1	240207812	.	G	T,A,*	5214.49	.	AC=11,3,1;AF=0.306,0.083,0.028;AN=36;BaseQRankSum=0.227;DP=776;ExcessHet=1.2994;FS=0.000;InbreedingCoeff=0.0004;MLEAC=12,3,1;MLEAF=0.333,0.083,0.028;MQ=50.73;MQRankSum=1.59;QD=13.61;ReadPosRankSum=-1.507e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,14,0,0:18:99:0|1:240207812_G_T:172,0,139,184,168,352,184,168,352,352:240207812	6	1	7	3
chr1	246857811	246857811	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon30:c.A4136G:p.N1379S	.	.	.	.	.	.	.	.	.	.	.	2271388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.76	T	0.039	B	0.023	B	0.000	U	1.000	N	0.69	N	1.59	T	-1.056	T	0.044	T	0.013	-1.640	0.013	1.16	0.317	0.334	2.749	0.068	0.00290991114503	.	.	2.513e-05	0.0002	0	0	0	1.528e-05	0	0	1.94e-05	3	154602	rs780521481	1.715e-05	1.984e-05	1.503e-05	1.93e-05	6.038e-05	1.178e-05	9.95e-06	1.217e-05	1.033e-05	6.038e-05	0	0	0	0	0	1.894e-05	3.321e-05	0	3.285e-05	3.283e-05	3.854e-05	2.689e-05	4.825e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.825e-05	0	0	0	0	0	0	4.409e-05	0	0	0.901	0.02430	T	0.618	0.07493	T	0.039	0.21116	B	0.023	0.19966	B	0.000000	0.00162	U	53.005000	1	0.08975	N	-0.14	0.04484	N	1.59	0.28836	T	0.16	0.05217	N	0.031	0.02964	-1.0563	0.12698	T	0.044	0.18989	T	10	0.03421524	0.01622	T	0.00291	0.06162	T	0.068	0.19811	.	.	0.206203607746	0.20212	0.0380572177117647	0.03751	0.195364994864	0.21872	0.24326646328	0.03091	T	0.02449	0.18493	T	-0.548411	0.00298	T	-0.788863	0.02196	T	0.00736574585087443	0.00085	T	0.454355	0.12956	T	0.029061588	0.02342	0.022067534	0.00240	0.029061588	0.02341	0.022067534	0.00240	-2.696	0.07269	T	.	.	0.083	0.09143	B	.;.;.	.;.;.	-0.357513	0.02376	0.261	0.21568647802658955	0.00827	0.03594	0.08818	N	AEFBI	0.038066	0.05333	N	-1.18802761590112	0.05181	0.2355502	-1.15917182429936	0.06605	0.3184715	7.44245336226961E-5	0.04552	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.93	1.16	0.19936	0.211000	0.17268	0.324000	0.17215	-0.878000	0.02484	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2555:0.0:0.3377:0.4068	2.749	0.04951	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	968.98	34	chr1	246857811	.	T	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.520e-01;DP=780;ExcessHet=0.0000;FS=3.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=1.57;SOR=0.393	GT:AD:DP:GQ:PL	0/1:34,44:78:99:983,0,733	20	0	1	0
chr2	15394267	15394267	G	A	exonic	NBAS	.	nonsynonymous SNV	NBAS:NM_015909:exon28:c.C3217T:p.R1073C,	Infantile liver failure syndrome 2, Autosomal recessive;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, Autosomal recessive	.	1	1491	29	1	0	31	0.0102887	.	.	490698	NBAS-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.000	D	1.000	D	1.905	M	2.22	T	-0.613	T	0.242	T	0.45	3.050	16.18	4.61	1.320	3.634	13.436	0.115	0.0618808978286	0.0038	0.00119808	0.0042	0.0009	0.0023	0	0.0010	0.0059	0.0038	0.0050	0.0035252	545	154602	rs147322367	0.0053	0.0053	0.0053	0.0054	0.0080	0.0052	0.0052	0.0061	0.0058	0.0008	0.0029	0.0037	7.578e-05	0.0011	0.0080	0.0060	0.0052	0.0049	0.0033	0.0033	0.0036	0.0029	0.0051	0.0030	0.0029	0.0047	0.0045	0.0010	0	0.0045	0.0040	0	0.0009	0.0068	0.0051	0.0010	0.0031	0.018	0.53900	D	0.007	0.69154	D	1.0	0.90584	D	0.976	0.73562	D	0.000001	0.84330	D	0.097198	0.999999	0.58761	D	2.3	0.65703	M	2.22	0.18248	T	-5.2	0.88630	D	0.444	0.48227	-0.6132	0.64271	T	0.242	0.60976	T	10	0.007463306	0.00170	T	0.061881	0.68475	D	0.141	0.37795	.	.	0.300449992093	0.29664	0.348921561372006	0.34806	0.252082498171	0.27777	0.243393883109	0.03104	T	0.571005	0.85795	D	-0.435798	0.01369	T	-0.396574	0.33784	T	0.0492686088679123	0.05372	T	0.966403	0.87711	D	0.32990417	0.55463	0.25607944	0.51302	0.31883046	0.54541	0.25735137	0.51449	-0.978	0.00975	T	0.5773279320448259	0.64425	0.131	0.28145	B	.;.	.;.	4.484245	0.69992	25.5	0.99462206973165612	0.65840	0.89547	0.50081	D	AEFBI	0.409734	0.48089	N	-0.0597948949969929	0.39166	2.305335	-0.0619124647366199	0.36980	2.15911	0.997420820974992	0.35604	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.48	4.61	0.56724	3.393000	0.52286	7.469000	0.59132	-0.119000	0.14319	0.985000	0.35982	0.999000	0.35428	0.946000	0.48989	0.0766:0.0:0.9234:0.0	13.436	0.60534	759	0.50631	Sec39 domain;Sec39 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1278.98	35	chr2	15394267	.	G	A	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.019e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-5.600e-02;SOR=0.718	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1293,0,1094	20	0	1	0
chr2	20667365	20667365	-	GGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGC:p.G50_R51insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/2:0,25,27,0:52:99:1803,1077,1056,599,0,939,1808,1142,1030,2238	3	5	0	10
chr2	20667365	20667365	-	GGCGGCGGCGGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGCGGCGGCGGC:p.G50_R51insGGGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/2:0,25,27,0:52:99:1803,1077,1056,599,0,939,1808,1142,1030,2238	3	5	0	10
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,40:112:99:.:.:309,0,777	7	0	13	1
chr2	37256660	37256660	A	C	splicing	PRKD3	NM_005813:exon17:c.2413+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.676	18.68	5.1	1.921	9.284	14.880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757068723	1.966e-05	7.825e-05	2.231e-05	1.69e-05	7.667e-05	1.257e-05	1.013e-05	1.269e-05	6.54e-06	0	5.836e-05	6.238e-05	7.667e-05	2.926e-05	0	1.553e-05	0	5.63e-05	1.512e-05	0.0001	2.897e-05	0	.	0	0	.	.	0	0.0026	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237809	0.77455	D	0.103819	0.77161	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.323181	0.89347	30	0.99022842983791948	0.50613	0.98862	0.87844	D	AEFBCI	.	.	.	1.10328516966927	0.98194	17.64889	0.935147193996344	0.96930	15.34287	0.999999930790337	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.089874	0.02613	0	0.880061	0.54747	5.1	5.1	0.68917	9.312000	0.95349	11.243000	0.90488	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	1.0:0.0:0.0:0.0	14.880	0.70160	532	0.73501	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	247.33	75	chr2	37256660	.	A	C	247.33	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.233e+00;DP=1462;ExcessHet=0.0000;FS=2.329;InbreedingCoeff=-0.1053;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=3.24;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,9:21:99:0|1:37256628_ATTTT_A:259,0,227:37256628	15	0	1	5
chr2	46994407	46994407	G	T	exonic	TTC7A	.	nonsynonymous SNV	TTC7A:NM_001288951:exon7:c.G894T:p.E298D	Gastrointestinal defects and immunodeficiency syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.001	B	0.024	N	1.000	D	-0.05	N	1.96	T	-1.013	T	0.024	T	0.14	0.305	5.651	-4.69	-0.652	-1.189	5.757	0.046	0.00210108046434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.03060	T	0.802	0.04041	T	0.0	0.02946	B	0.001	0.04355	B	0.024230	0.26299	N	0.407066	1	0.81001	D	-1.555	0.00461	N	1.94	0.29866	T	0.09	0.06739	N	0.211	0.23506	-1.0130	0.25975	T	0.024	0.10103	T	10	0.039106846	0.02376	T	0.002101	0.03882	T	0.046	0.12618	0.286	0.24440	0.0846915920261	0.08053	0.17840872281559927	0.17759	0.0577376648118	0.06392	0.485097527504	0.36759	T	0.028745	0.20752	T	-0.322839	0.06667	T	-0.701513	0.05743	T	0.0541398301720619	0.06213	T	0.763824	0.39073	T	0.037145413	0.04707	0.04084837	0.04509	0.037145413	0.04707	0.04084837	0.04509	-3.658	0.18700	T	0.04325274396848253	0.00477	0.061	0.01834	B	.;.;.	.;.;.	-0.379384	0.02292	0.240	0.74243239005318962	0.10623	0.07361	0.13381	N	AEFBI	0.049288	0.08500	N	-1.20679218406349	0.04899	0.2221412	-1.13117320986967	0.07110	0.3446652	0.999103939240032	0.38452	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.63	-4.69	0.03061	-1.001000	0.03800	-1.934000	0.04472	-0.153000	0.12021	0.094000	0.22667	0.000000	0.08366	0.996000	0.76049	0.2274:0.5333:0.1461:0.0932	5.757	0.17445	676	0.60355	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1518.98	33	chr2	46994407	.	G	T	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.000e-03;DP=852;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=2.33;SOR=0.781	GT:AD:DP:GQ:PL	0/1:70,69:139:99:1533,0,1573	20	0	1	0
chr2	54646341	54646341	A	C	exonic	SPTBN1	.	nonsynonymous SNV	SPTBN1:NM_178313:exon22:c.A4693C:p.I1565L	.	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.002	B	0.001	D	0.962	D	0.37	N	0.94	T	-1.032	T	0.060	T	0.339	1.692	11.62	6.04	2.317	7.279	10.843	0.145	0.00230614389814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.17353	T	0.703	0.06052	T	0.0	0.02946	B	0.002	0.06944	B	0.000578	0.43250	D	0.260506	0.96155	0.38242	D	0.805	0.20218	L	0.94	0.43672	T	0.53	0.02853	N	0.481	0.55453	-1.0325	0.19650	T	0.060	0.25163	T	10	0.30211753	0.47750	T	0.002306	0.04424	T	0.145	0.38592	0.51	0.60693	0.499901089381	0.49625	0.07945207973329803	0.07880	0.35632220145	0.37379	0.495893001556	0.38255	T	0.270472	0.64274	T	-0.124319	0.32420	T	-0.416352	0.31495	T	0.57594864131437	0.35463	D	0.791921	0.47234	T	0.056422353	0.11099	0.061293725	0.11811	0.056422353	0.11099	0.061293725	0.11810	-1.793	0.05006	T	.	.	0.065	0.02927	B	.;.;.	.;.;.	2.691860	0.35142	19.82	0.93646066429826347	0.23528	0.94992	0.63046	D	AEFDBCI	0.871663	0.79318	D	-0.0805591909560225	0.38245	2.237068	0.174576127326665	0.48459	3.061452	0.999999982257131	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	7.268000	0.77870	6.149000	0.54167	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9302:0.0:0.0698:0.0	10.843	0.45931	781	0.47532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	643.98	34	chr2	54646341	.	A	C	643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.479e+00;DP=781;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=0.227;SOR=0.509	GT:AD:DP:GQ:PL	0/1:44,33:77:99:658,0,1101	20	0	1	0
chr2	55025659	55025659	G	T	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.C1822A:p.L608M	.	.	431	1076	13	2	0	17	0.00783771	.	.	697606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.855	P	0.459	P	0.001	N	1.000	N	1.87	L	2.2	T	-0.954	T	0.047	T	0.255	-0.526	1.604	-2.7	-0.414	-0.149	8.820	0.084	.	0.0061	0.00379393	0.0054	0.0010	0.0028	0	0.0020	0.0082	0.0055	0.0025	0.0055756	862	154602	rs80121116	0.0079	0.0079	0.0081	0.0078	0.0091	0.0078	0.0078	0.0089	0.0089	0.0009	0.0036	0.0186	0	0.0023	0.0057	0.0091	0.0075	0.0025	0.0056	0.0056	0.0057	0.0055	0.0086	0.0053	0.0051	0.0081	0.0078	0.0016	0.0011	0.0047	0.0239	0	0.0020	0.0034	0.0086	0.0057	0.0010	0.039	0.45393	D	0.122	0.36365	T	0.855	0.47121	P	0.459	0.46380	P	0.000677	0.00662	N	3.669530	1	0.08975	N	2.25	0.63811	M	2.2	0.18724	T	-0.08	0.08187	N	0.205	0.23758	-0.9536	0.40345	T	0.047	0.20275	T	10	0.0038111806	0.00072	T	.	.	.	0.084	0.24469	.	.	0.171388866994	0.16791	0.07742202268788945	0.07678	0.121087646277	0.13643	0.242997542024	0.03067	T	0.200326	0.55787	T	-0.554311	0.00275	T	-0.562325	0.16159	T	0.0115987356139833	0.00176	T	0.582242	0.21661	T	0.06344893	0.13360	0.050419915	0.07911	0.06344893	0.13359	0.050419915	0.07910	-5.777	0.44373	T	.	.	0.09	0.15070	B	.;.;.;.;.	.;.;.;.;.	0.225672	0.06073	2.518	0.89292706127827759	0.18673	0.10869	0.16249	N	AEFBCI	0.096377	0.19456	N	-0.713090422477892	0.15654	0.7907477	-0.911291229989815	0.11827	0.604934	0.999759432413961	0.42595	0.660377	0.49826	0	0.518115	0.08659	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.45	-2.7	0.05651	-0.139000	0.10338	-0.721000	0.07705	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.1916:0.3586:0.4498:0.0	8.820	0.34182	625	0.65529	.;.;.;.;.	.	.	.	.	rs80121116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	895.98	34	chr2	55025659	.	G	T	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.977;DP=850;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=-1.140e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:58,41:99:99:910,0,1336	20	0	1	0
chr2	55578332	55578332	-	A	exonic	PPP4R3B	.	frameshift insertion	PPP4R3B:NM_001122964:exon10:c.1478dupT:p.L493Ffs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0005	0.0030	0.0019	0	0.0007	0	0.0058	0.0002329	36	154602	rs758042879	0.0004	0.0033	0.0003	0.0005	0.0019	0.0004	0.0003	0.0016	0.0015	0.0005	0.0016	0.0006	0.0005	0.0005	0	0.0003	0.0005	0.0019	2.646e-05	8.554e-05	2.584e-05	2.71e-05	7.28e-05	8.18e-06	5.17e-06	1.93e-05	1.035e-05	7.28e-05	0	0	0	0	0	0	1.479e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	44.94	37	chr2	55578332	.	T	TA	44.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.510e-01;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=-3.180e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:72,11:85:59:59,0,1828	20	0	1	0
chr2	58226763	58226763	G	C	exonic	FANCL	.	nonsynonymous SNV	FANCL:NM_001114636:exon4:c.C238G:p.L80V	Fanconi anemia, complementation group L, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	393060	not_specified|Fanconi_anemia_complementation_group_L|See_cases|Fanconi_anemia	MedGen:CN169374|MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083,Orphanet:84|.|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.999	D	0.000	D	1.000	D	2.165	M	0.33	T	-0.673	T	0.268	T	0.405	3.489	17.84	3.98	0.801	2.456	10.099	0.193	0.0249510211006	.	0.000199681	0.0002	0	8.694e-05	0	0	9.055e-05	0	0.0007	0.0001488	23	154602	rs563513081	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0002	0	0	0	0.0016	0.0001	0.0002	0.0008	0.0001	0.0001	0.0001	9.443e-05	0.0008	7.111e-05	5.764e-05	0.0003	0.0002	0	0	6.563e-05	0	0	0	0.0035	0.0002	0	0.0008	0.186	0.23007	T	0.273	0.92824	T	0.984	0.90584	D	0.867	0.92359	P	0.000000	0.84330	D	0.000000	0.999629	0.81001	D	2.36	0.67893	M	0.33	0.58323	T	-0.94	0.25770	N	0.562	0.58629	-0.6726	0.61711	T	0.268	0.63950	T	10	0.03964907	0.02472	T	0.024951	0.47933	T	0.193	0.47281	0.467	0.53891	0.438806408302	0.43502	0.5484643878156862	0.54772	0.0231559569802	0.02349	0.485911786556	0.36873	T	0.018978	0.43925	T	-0.290201	0.09617	T	-0.271414	0.47677	T	0.156170187254223	0.17584	T	0.856914	0.54589	D	0.102214575	0.24151	0.095297284	0.22595	0.102214575	0.24150	0.095297284	0.22594	-5.033	0.37197	T	0.3585848567382409	0.45521	0.124	0.32251	B	.;.;.;.	.;.;.;.	3.114497	0.42023	21.5	0.99794639016544773	0.88017	0.92338	0.55481	D	AEFBI	0.414703	0.48386	N	0.210454959020322	0.51706	3.349704	0.246389329544082	0.52445	3.419212	0.737416813894213	0.23154	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.77	3.98	0.45383	2.835000	0.47876	2.609000	0.33566	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.158:0.0:0.842:0.0	10.099	0.41666	761	0.50382	Fanconi anemia complex, subunit FancL, WD-repeat containing domain;Fanconi anemia complex, subunit FancL, WD-repeat containing domain;.;Fanconi anemia complex, subunit FancL, WD-repeat containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1288.98	37	chr2	58226763	.	G	C	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.429;DP=887;ExcessHet=0.0000;FS=0.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-2.700e-02;SOR=0.794	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1303,0,1090	20	0	1	0
chr2	64552343	64552343	A	T	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.A869T:p.D290V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.178	B	0.035	B	0.228	N	1.000	N	1.61	L	1.83	T	-1.068	T	0.049	T	0.378	0.344	5.866	4.56	2.333	0.988	5.901	0.066	0.00427403834751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.089	0.41742	T	0.178	0.28960	B	0.022	0.19653	B	0.228406	0.15976	N	0.619600	0.999964	0.18878	N	2	0.54354	M	1.83	0.24841	T	-2.27	0.50666	N	0.175	0.25499	-1.0684	0.09768	T	0.049	0.20868	T	10	0.08213243	0.13521	T	0.004274	0.10341	T	0.066	0.19193	0.282	0.23801	0.15499578495	0.15088	0.1714498197412902	0.17064	0.13547621356	0.15268	0.249381259084	0.03702	T	0.00506	0.04495	T	-0.136607	0.30432	T	-0.434003	0.29482	T	0.121987623177828	0.14623	T	0.728927	0.34400	T	0.10581762	0.25020	0.10537675	0.25329	0.10581762	0.25020	0.10537675	0.25328	-3.159	0.11986	T	.	.	0.091	0.13221	B	.;.;.	.;.;.	1.588265	0.20318	14.69	0.92783860752449809	0.22300	0.14449	0.18409	N	AEFBI	0.049431	0.08538	N	-0.249418212815048	0.31127	1.742279	-0.134857709827774	0.33996	1.950671	0.989540598585569	0.31860	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.78	4.56	0.55644	0.967000	0.28941	2.822000	0.34969	0.691000	0.84096	0.325000	0.25546	0.894000	0.27871	0.997000	0.79791	0.7739:0.0:0.0782:0.1479	5.901	0.18208	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	33	chr2	64552343	.	A	T	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.670e-01;DP=804;ExcessHet=0.0000;FS=1.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-3.470e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1323,0,1255	20	0	1	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/3:56,0,0,7,0,0:63:99:102,271,2466,271,2466,2466,0,2195,2195,2174,271,2466,2466,2195,2466,271,2466,2466,2195,2466,2466	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/3:56,0,0,7,0,0:63:99:102,271,2466,271,2466,2466,0,2195,2195,2174,271,2466,2466,2195,2466,271,2466,2466,2195,2466,2466	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/3:56,0,0,7,0,0:63:99:102,271,2466,271,2466,2466,0,2195,2195,2174,271,2466,2466,2195,2466,271,2466,2466,2195,2466,2466	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/3:56,0,0,7,0,0:63:99:102,271,2466,271,2466,2466,0,2195,2195,2174,271,2466,2466,2195,2466,271,2466,2466,2195,2466,2466	0	4	5	0
chr2	85344162	85344162	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon9:c.G1370A:p.R457Q,	.	.	424	1087	11	0	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.769	P	0.105	B	0.000	D	1.000	D	1.925	M	1.95	T	-1.121	T	0.032	T	0.346	2.247	13.47	4.09	2.491	2.572	6.970	0.098	0.0155128042393	0.0016	0.00199681	0.0038	0.0003	0.0011	0	0.0024	0.0045	0.0044	0.0077	0.0036998	572	154602	rs41289947	0.0041	0.0041	0.0040	0.0043	0.0087	0.0041	0.0040	0.0082	0.0080	0.0004	0.0012	0.0035	0.0001	0.0019	0.0057	0.0043	0.0046	0.0087	0.0028	0.0028	0.0028	0.0028	0.0095	0.0026	0.0025	0.0074	0.0066	0.0005	0	0.0014	0.0035	0.0002	0.0016	0.0034	0.0044	0.0043	0.0095	0.064	0.36509	T	0.188	0.28669	T	0.223	0.30377	B	0.048	0.24975	B	0.000031	0.55875	D	0.131649	0.949612	0.81001	D	1.615	0.41426	L	1.95	0.22474	T	-0.82	0.22508	N	0.298	0.33687	-1.1213	0.02251	T	0.032	0.13723	T	10	0.009657979	0.00217	T	0.015513	0.36282	T	0.098	0.28162	.	.	0.408714661073	0.40485	0.6468904191690816	0.64624	0.082486663882	0.09310	0.23935726285	0.02733	T	0.013445	0.11628	T	-0.467557	0.00881	T	-0.439824	0.28827	T	0.0169089768246889	0.00443	T	0.775222	0.40690	T	0.09430355	0.22168	0.08301302	0.18992	0.09430355	0.22167	0.08301302	0.18992	-4.667	0.33002	T	.	.	0.079	0.07318	B	.	.	3.170586	0.42994	21.6	0.99579536912035771	0.72921	0.71471	0.35027	D	AEFDGBI	0.450311	0.50476	N	0.0263917925922794	0.43058	2.606232	0.0631943486335034	0.42713	2.588429	0.999914047780782	0.45857	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	4.09	0.47038	3.082000	0.49825	0.760000	0.21307	0.520000	0.23804	0.997000	0.40164	0.000000	0.08366	0.029000	0.12982	0.0:0.8086:0.0:0.1914	6.970	0.23822	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	0.04762	2548.08	37	chr2	85344162	.	C	T	2548.08	.	AC=2;AF=0.048;AN=42;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.70;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2576,249,0	20	1	0	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,10:106:99:0|1:94876587_C_A:131,0,3981:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,30:164:99:0|1:94876587_C_A:856,0,5536:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,34:185:99:0|1:94876587_C_A:973,0,6238:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,43:219:99:0|1:94876671_A_G:1265,0,7213:94876671	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,43:219:99:0|1:94876671_A_G:1265,0,7233:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,35:173:99:.:.:673,0,3069	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,12:169:31:0|1:94876737_C_A:31,0,6478:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,12:163:49:0|1:94876737_C_A:49,0,6292:94876737	9	0	12	0
chr2	95108402	95108402	T	C	exonic	MRPS5	.	nonsynonymous SNV	MRPS5:NM_001321995:exon5:c.A173G:p.Y58C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.488	N	1.000	N	-0.205	N	.	.	-1.004	T	0.043	T	0.07	1.280	10.18	-10.7	-1.597	0.093	11.864	0.136	0.00253713059722	.	0.00159744	0.0005	0	8.658e-05	0.0061	0	0	0	0.0001	0.0004204	65	154602	rs200730619	0.0001	0.0001	9.399e-05	0.0001	0.0030	9.542e-05	9.023e-05	0.0026	0.0024	0	2.237e-05	0	0.0030	0	0	1.799e-06	0.0002	0.0003	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0038	0	0	6.533e-05	0	0.0060	0	0	1.47e-05	0.0009	0.0017	0.179	0.22053	T	0.189	0.28575	T	0.0	0.02946	B	0.0	0.01387	B	0.487683	0.05017	N	1.275860	1	0.08975	N	0.49	0.13296	N	.	.	.	0.54	0.02764	N	0.11	0.09631	-1.0036	0.28874	T	0.043	0.18701	T	9	0.009473264	0.00214	T	0.002537	0.05093	T	0.136	0.36778	.	.	0.462982567029	0.45924	0.47109152772083074	0.47028	0.144972252349	0.16379	0.234599769115	0.02325	T	0.008807	0.08060	T	-0.639357	0.00084	T	-0.687443	0.06538	T	0.0243605395120875	0.01191	T	0.708429	0.31914	T	0.0254679	0.01489	0.03159915	0.01773	0.0254679	0.01488	0.03159915	0.01772	-2.864	0.08788	T	.	.	0.059	0.00730	B	.	.	-0.034472	0.04052	0.938	0.55374160883425683	0.05329	0.02632	0.07225	N	AEFBI	0.045979	0.07582	N	-1.68842875784931	0.00884	0.03824251	-1.77556239889096	0.00841	0.03755338	0.998899508076711	0.37915	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.34	-10.7	0.00191	0.163000	0.16338	-2.210000	0.04053	-0.831000	0.02872	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3912:0.4049:0.2039	11.864	0.51762	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	882.98	36	chr2	95108402	.	T	C	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.298;DP=768;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=-5.730e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/1:23,38:61:99:897,0,456	20	0	1	0
chr2	95480387	95480387	A	G	exonic	TRIM43B	.	nonsynonymous SNV	TRIM43B:NM_001164464:exon4:c.T656C:p.M219T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218104095	1.372e-06	1.368e-06	0	2.759e-06	2.341e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.72	0.79541	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2233417	0.39110	T	.	.	.	.	.	.	.	.	.	0.26458714039319003	0.26371	.	.	0.648651003838	0.59794	T	0.096535	0.39844	T	.	.	.	.	.	.	.	.	.	0.340966	0.07383	T	0.06957293	0.15253	0.22052777	0.46831	0.06957293	0.15253	0.22052777	0.46830	-8.695	0.65713	D	.	.	0.645	0.70706	P	.;.	.;.	0.942621	0.13185	9.685	0.41051173677281894	0.02937	0.00432	0.02120	N	AEFI	.	.	.	.	.	.	.	.	.	1.09686028481045E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0436289	0.02737	1.38	0.112	0.13929	0.569000	0.23342	0.342000	0.17391	-1.370000	0.01171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6465:0.0:0.0:0.3535	3.491	0.07200	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	219.98	39	chr2	95480387	.	A	G	219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.790e-01;DP=742;ExcessHet=0.0000;FS=1.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.81;MQRankSum=1.36;QD=6.67;ReadPosRankSum=-4.120e-01;SOR=1.276	GT:AD:DP:GQ:PL	0/1:21,12:33:99:234,0,499	20	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,57:134:99:.:.:1877,0,1774	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,58:169:99:.:.:1145,0,3986	6	0	15	0
chr2	95855506	95855506	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5853C:p.Q1951H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	1.395	L	1.92	T	-1.018	T	0.050	T	0.164	-1.031	0.218	-4.22	-2.242	-0.769	4.02	0.070	0.000751096101869	.	.	1.657e-05	0	0	0	0	3.002e-05	0	0	3.84e-05	1	26028	rs762703281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.92	0.23082	T	-4.52	0.78302	D	0.214	0.23884	-1.0176	0.24495	T	0.050	0.21339	T	7	0.101623595	0.18577	T	7.51E-4	0.00529	T	0.070	0.20419	0.157	0.06070	0.0401082797425	0.02173	0.037177813221972306	0.03664	.	.	.	.	.	0.059557	0.31149	T	-0.24979	0.14124	T	-0.596583	0.13100	T	0.214012049414617	0.21160	T	0.407359	0.10471	T	0.1643707	0.36640	0.17653742	0.40194	0.1643707	0.36639	0.17653742	0.40194	-6.091	0.47035	T	.	.	0.3	0.52985	B	.	.	1.239825	0.16352	12.49	0.53876015467094185	0.05025	0.04613	0.10272	N	AEFI	0.037669	0.05216	N	-1.11973551420413	0.06292	0.2892753	-1.34486909487383	0.03866	0.1812425	0.00126918703602385	0.08390	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-4.22	0.03541	-0.350000	0.07769	-13.525000	0.00453	-0.630000	0.04515	0.898000	0.31380	0.000000	0.08366	0.050000	0.15192	0.1424:0.5468:0.1433:0.1676	4.02	0.09148	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	90.98	387	chr2	95855506	.	T	G	90.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.164e+00;DP=7449;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.72;MQRankSum=-3.121e+00;QD=0.39;ReadPosRankSum=1.38;SOR=0.813	GT:AD:DP:GQ:PL	0/1:202,33:235:99:105,0,4594	20	0	1	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:43,85:128:99:2007,0,852	0	0	21	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T,	.	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,42:64:99:.:.:1255,0,494	0	0	21	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V,	.	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:49,7:56:88:88,0,1731	3	0	18	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R,	.	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.5	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,38:56:99:.:.:993,0,460	0	0	21	0
chr2	95897318	95897318	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon61:c.C3598G:p.L1200V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	2.22	T	-1.001	T	0.122	T	0.245	-3.910	0.001	-1.07	-1.716	-1.163	.	0.050	.	.	.	0.0002	0.0024	0	0	0	0	0	0	3.84e-05	1	26028	rs768944621	7.882e-05	8.904e-05	8.504e-05	7.246e-05	0.0009	6.685e-05	6.22e-05	0.0007	0.0006	0.0009	0.0002	0	0.0002	2.023e-05	0	3.821e-05	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0.0006	0	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1502.98	34	chr2	95897318	.	G	C	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.941e+00;DP=801;ExcessHet=0.0000;FS=1.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.35;MQRankSum=-3.323e+00;QD=12.96;ReadPosRankSum=-2.980e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1517,0,1251	20	0	1	0
chr2	96829126	96829126	C	T	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_199078:exon6:c.C1907T:p.T636I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.006	B	0.007	B	0.233	N	1.000	N	0.69	N	-2.47	D	-0.604	T	0.463	T	0.035	0.922	8.753	1.43	-0.031	-0.045	4.237	0.105	0.152458440712	.	0.00119808	0.0002	0	8.663e-05	0.0031	0	0	0	0.0001	0.0002393	37	154602	rs202016851	7.252e-05	7.251e-05	7.624e-05	6.876e-05	0.0018	6.115e-05	5.7e-05	0.0015	0.0014	0	2.236e-05	0	0.0018	0	0	1.799e-06	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0041	0.0001	0.0001	0.0027	0.0023	0	0	0	0	0.0041	0	0	0	0.0005	0.0008	0.114	0.28646	T	0.123	0.35582	T	0.001	0.13644	B	0.007	0.12992	B	0.232972	0.15878	N	0.555867	1	0.08975	N	1.445	0.36358	L	-2.47	0.90735	D	-1.49	0.41618	N	0.079	0.05414	-0.6039	0.64656	T	0.463	0.79190	T	10	0.0052223206	0.00114	T	0.152458	0.83387	D	0.105	0.29889	.	.	0.139678290688	0.13603	0.26634958492587313	0.26547	.	.	0.290547549725	0.09001	T	0.027258	0.19999	T	-0.490928	0.00642	T	-0.47618	0.24853	T	0.00703052845273075	0.00080	T	0.371663	0.08799	T	0.04255382	0.06474	0.034880005	0.02636	0.04255382	0.06473	0.034880005	0.02635	-6.341	0.49494	T	.	.	0.157	0.34819	B	.;.	.;.	0.590568	0.09593	6.365	0.785135317583463	0.12333	0.10587	0.16052	N	AEFBCI	0.066480	0.13022	N	-1.10045126629788	0.06636	0.3060287	-1.10039613912622	0.07693	0.3752126	0.775809589144228	0.23750	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.44	1.43	0.21585	-0.081000	0.11285	0.134000	0.15084	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.292:0.4973:0.1333:0.0775	4.237	0.10082	127	0.94899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	969.98	40	chr2	96829126	.	C	T	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.200e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-9.270e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:45,48:93:99:984,0,909	20	0	1	0
chr2	96839560	96839560	T	G	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon9:c.A907C:p.T303P,	.	.	415	1103	2	2	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.966	D	0.804	P	0.150	U	1.000	D	0.695	N	-0.19	T	-1.125	T	0.004	T	0.484	4.724	26.3	5.28	2.216	1.777	11.519	0.131	.	.	0.0297524	0.0308	0.0014	0.0014	0.2180	0	0.0004	0.0263	0.0030	0.0052457	811	154602	rs74826568	0.0038	0.0037	0.0038	0.0037	0.1225	0.0037	0.0037	0.1194	0.1182	0.0003	0.0009	0	0.1225	0.0002	0.0003	3.848e-05	0.0064	0.0026	0.0054	0.0054	0.0045	0.0063	0.1418	0.0051	0.0050	0.1333	0.1299	0.0008	0	0.0007	0	0.1418	9.425e-05	0	5.884e-05	0.0052	0.0060	0.003	0.68238	D	0.011	0.64786	D	0.895	0.56202	P	0.368	0.58350	B	0.150258	0.17992	U	0.400420	0.820231	0.35377	D	1.61	0.41143	L	-0.39	0.69158	T	-0.03	0.12472	N	0.25	0.32148	-1.1249	0.02043	T	0.004	0.01365	T	10	0.0027197897	0.00042	T	.	.	.	0.131	0.35738	.	.	.	.	0.4121415988440924	0.41130	0.641846917885	0.57762	0.465603768826	0.34078	T	0.008345	0.07671	T	-0.432211	0.01437	T	-0.249797	0.49838	T	0.0224292232449353	0.00958	T	0.455554	0.13039	T	0.14771564	0.33756	0.22626257	0.47599	0.14771564	0.33755	0.22626257	0.47598	-3.346	0.14338	T	.	.	0.105	0.20819	B	.;.;.	.;.;.	2.861779	0.37813	20.6	0.99508411730336055	0.68499	0.41833	0.26745	N	ALL	0.313650	0.41874	N	0.126669442487198	0.47710	2.992883	0.150056702216517	0.47145	2.949171	0.999999999864316	0.74766	0.536635	0.22144	0	0.57239	0.20480	2	0.489635	0.07774	0	0.645665	0.59343	0	.	.	5.28	5.28	0.74118	1.245000	0.32393	3.260000	0.37085	0.665000	0.62972	0.102000	0.22834	1.000000	0.68203	0.695000	0.33988	0.0:0.0:0.0:1.0	11.519	0.49789	122	0.95130	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1659.11	34	chr2	96839560	.	T	G	1659.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.439;DP=751;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.152;SOR=0.658	GT:AD:DP:GQ:PL	0/1:49,46:95:99:997,0,1050	19	0	2	0
chr2	96861753	96861753	C	T	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon13:c.G1585A:p.V529M,	.	.	0	1517	4	1	0	6	0.00197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.808	P	0.381	B	0.087	N	1.000	N	1.63	L	2.26	T	-1.043	T	0.000	T	0.092	3.370	17.36	-0.075	-0.187	0.609	2.442	0.071	.	7.7e-05	0.0255591	0.0104	0.0008	0.0023	0.1344	0.0002	0.0001	0.0044	0.0025	0.0095988	1484	154602	rs79331914	0.0041	0.0041	0.0042	0.0040	0.1325	0.0040	0.0040	0.1295	0.1283	0.0003	0.0019	0	0.1325	0.0002	0.0002	4.676e-05	0.0062	0.0026	0.0056	0.0056	0.0048	0.0064	0.1456	0.0053	0.0051	0.1370	0.1336	0.0008	0	0.0009	0	0.1456	9.409e-05	0	7.35e-05	0.0047	0.0060	0.113	0.28772	T	0.06	0.45744	T	0.782	0.44333	P	0.381	0.43873	B	0.087278	0.20542	N	0.301246	1	0.08975	N	1.545	0.39105	L	2.26	0.17596	T	-1.03	0.27052	N	0.212	0.23632	-1.0429	0.16443	T	0.000	0.00152	T	10	0.0016003549	0.00019	T	.	.	.	0.071	0.20720	.	.	.	.	0.28134716411572486	0.28047	0.370578501582	0.38572	0.328716754913	0.14739	T	0.109574	0.42356	T	-0.737038	0.00022	T	-0.687661	0.06525	T	0.0269984998289952	0.01544	T	0.777122	0.41012	T	0.034205157	0.03795	0.040132686	0.04266	0.034205157	0.03794	0.040132686	0.04266	-5.785	0.44443	T	.	.	0.104	0.18869	B	.	.	2.480262	0.31981	18.91	0.99516421188153981	0.68979	0.08037	0.14014	N	AEFBCI	0.034359	0.04242	N	-0.4963082972307	0.22201	1.183795	-0.623397178375814	0.18893	1.01128	0.98834267626621	0.31485	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.06	-0.0749	0.13062	0.370000	0.20166	-0.071000	0.12298	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.584000	0.30992	0.1034:0.3398:0.3042:0.2525	2.442	0.04223	115	0.95340	PSI domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2049.11	34	chr2	96861753	.	C	T	2049.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=880;ExcessHet=0.1072;FS=0.551;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.39;SOR=0.620	GT:AD:DP:GQ:PL	0/1:42,26:68:99:579,0,953	19	0	2	0
chr2	99171577	99171577	C	T	exonic	MITD1	.	nonsynonymous SNV	MITD1:NM_001320417:exon3:c.G119A:p.R40H	.	.	488	1033	1	0	0	1	0.000483793	.	.	2331500	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.007	B	0.001	B	0.000	D	1.000	N	1.5	L	0.94	T	0.029	D	0.619	D	0.227	2.665	14.87	3.38	0.546	3.920	8.598	0.293	0.0517328084436	.	0.000199681	0.0001	9.679e-05	0.0010	0	0	3.008e-05	0	0.0002	0.0001164	18	154602	rs547453688	6.915e-05	7.114e-05	7.494e-05	6.33e-05	0.0009	5.785e-05	5.396e-05	0.0007	0.0006	5.983e-05	0.0009	3.833e-05	7.58e-05	0	0.0009	3.6e-05	3.315e-05	0.0001	6.573e-05	6.564e-05	6.428e-05	6.724e-05	0.0003	3.518e-05	2.617e-05	8.879e-05	5.388e-05	0.0001	0	0.0003	0	0	0	0	1.471e-05	0	0	0.102	0.30235	T	0.08	0.41913	T	0.007	0.14184	B	0.001	0.04355	B	0.000130	0.49741	D	0.210070	0.604985	0.81001	N	0	0.06538	N	-2.98	0.92057	D	-0.86	0.25551	N	0.082	0.05799	0.029	0.82838	D	0.619	0.86559	D	10	0.059304476	0.07107	T	0.051733	0.64784	D	0.293	0.61272	.	.	0.966218830229	0.96585	0.20123955559990442	0.20040	0.40725322585	0.41592	0.215082764626	0.01045	T	0.221572	0.58518	T	-0.298596	0.08792	T	-0.258037	0.49020	T	0.0311420736877861	0.02169	T	0.711029	0.32195	T	0.11027216	0.26066	0.08055066	0.18232	0.11027216	0.26065	0.08055066	0.18231	-6.265	0.48445	T	.	.	0.073	0.06756	B	.;.;.	.;.;.	1.723456	0.21940	15.41	0.97442041438061944	0.33982	0.21240	0.21331	N	AEFBI	0.056306	0.10397	N	-0.336488500066247	0.27772	1.526407	-0.1817293133001	0.32207	1.830159	0.995373464573747	0.34093	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.71	3.38	0.37806	3.880000	0.55858	1.426000	0.26406	-0.850000	0.02721	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.1607:0.0:0.8393	8.598	0.32889	266	0.89551	MIT, C-terminal phospholipase D-like domain;MIT, C-terminal phospholipase D-like domain;MIT, C-terminal phospholipase D-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1230.98	33	chr2	99171577	.	C	T	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-6.130e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1245,0,1309	20	0	1	0
chr2	100298868	100298868	G	T	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon7:c.C1444A:p.H482N	.	.	425	1092	5	0	0	5	0.00228415	.	.	2812172	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.016	B	0.002	N	0.822	D	-0.72	N	1.05	T	-1.068	T	0.019	T	0.068	0.598	7.222	2.09	0.876	1.396	8.965	0.049	.	0.0074	0.00319489	0.0074	0.0024	0.0027	0	0.0219	0.0102	0.0033	0.0008	0.0074708	1155	154602	rs116702638	0.0094	0.0094	0.0097	0.0091	0.0107	0.0093	0.0092	0.0105	0.0105	0.0013	0.0038	0.0054	0	0.0193	0.0024	0.0107	0.0067	0.0010	0.0070	0.0070	0.0069	0.0072	0.0098	0.0067	0.0065	0.0091	0.0089	0.0019	0	0.0042	0.0049	0	0.0210	0	0.0098	0.0076	0.0010	0.166	0.23183	T	0.517	0.10572	T	0.003	0.11197	B	0.016	0.17743	B	0.002062	0.37317	N	0.258855	0.715228	0.34796	D	-0.425	0.02884	N	1.05	0.39990	T	-2.17	0.49018	N	0.211	0.23506	-1.0678	0.09903	T	0.019	0.08173	T	10	0.00684464	0.00156	T	.	.	.	0.049	0.13647	.	.	0.295226631146	0.29124	0.32937313727823714	0.32850	0.389715505407	0.40204	0.481564313173	0.36272	T	0.022653	0.17425	T	-0.636122	0.00088	T	-0.675491	0.07261	T	0.0163635422777987	0.00405	T	0.652235	0.26282	T	0.08047845	0.18442	0.09920867	0.23679	0.08047845	0.18442	0.09920867	0.23678	-8.521	0.64568	D	.	.	0.141	0.31023	B	.;.	.;.	0.916531	0.12909	9.421	0.75059455686708343	0.10929	0.57950	0.30511	D	AEFDGBI	0.096426	0.19465	N	-0.818687413691486	0.12834	0.6281359	-0.70805924372528	0.16760	0.8881217	0.999783068285757	0.43007	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.09	2.09	0.26154	1.117000	0.30848	1.121000	0.24244	-0.106000	0.15538	0.911000	0.31706	0.002000	0.18203	0.037000	0.13953	0.0:0.1467:0.5877:0.2655	8.965	0.35031	615	0.66512	Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2654.11	33	chr2	100298868	.	G	T	2654.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.05;DP=919;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.880;SOR=0.702	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1259,0,1727	19	0	2	0
chr2	100990302	100990302	G	A	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon18:c.G1874A:p.R625H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.009	B	0.004	B	0.676	N	1.000	N	0.69	N	3.55	T	-0.929	T	0.013	T	0.187	-0.124	3.391	-0.426	-0.031	0.267	5.355	0.027	0.00545255870143	0.0002	.	8.242e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs200722501	4.788e-05	4.788e-05	5.445e-05	4.125e-05	0.0001	3.86e-05	3.54e-05	4.907e-05	4.281e-05	0	0	0	0.0001	0	0	5.845e-05	0	0	3.287e-05	3.283e-05	2.57e-05	4.037e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.266	0.16251	T	0.135	0.34124	T	0.003	0.11197	B	0.001	0.04355	B	0.675541	0.06061	N	1.174020	1	0.08975	N	0.41	0.12415	N	3.55	0.04746	T	-0.56	0.17003	N	0.043	0.01577	-0.9294	0.44227	T	0.013	0.04890	T	10	0.043991983	0.03307	T	0.005453	0.14015	T	0.027	0.05988	.	.	0.288221626996	0.28429	0.2110849776659986	0.21024	0.349945648708	0.36842	0.225663870573	0.01663	T	0.063928	0.32302	T	-0.452709	0.01089	T	-0.651393	0.08856	T	0.0265884785755812	0.01487	T	0.751225	0.37284	T	0.015105615	0.00122	0.02030998	0.00129	0.015105615	0.00122	0.02030998	0.00129	-2.092	0.03550	T	0.055174013151506635	0.01211	0.061	0.01179	B	.	.	0.586262	0.09550	6.323	0.86187439043811698	0.16370	0.01113	0.04069	N	AEFDBI	0.042033	0.06468	N	-1.04402005189573	0.07705	0.3588688	-1.07961511113839	0.08102	0.3969111	0.951797288235494	0.27978	0.706548	0.73137	0	0.573888	0.26702	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.66	-0.426	0.11700	0.304000	0.18983	1.490000	0.26882	0.676000	0.76740	0.213000	0.24458	0.818000	0.27101	0.027000	0.12703	0.2589:0.3161:0.425:0.0	5.355	0.15361	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1390.98	40	chr2	100990302	.	G	A	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-4.860e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1405,0,1236	20	0	1	0
chr2	102235010	102235010	G	A	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.G985A:p.A329T	.	.	435	1020	65	2	0	69	0.0327169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.964	D	0.595	P	0.049	N	0.564	N	2.125	M	2.75	T	-1.098	T	0.004	T	0.127	3.511	17.94	3.4	1.140	3.205	12.428	0.107	.	0.0036	0.028754	0.0169	0.0013	0.0072	0.0765	0.0009	0.0045	0.0176	0.0584	0.015679	2424	154602	rs75091099	0.0098	0.0098	0.0082	0.0114	0.0652	0.0097	0.0096	0.0631	0.0622	0.0012	0.0067	0.0070	0.0652	0.0007	0.0290	0.0049	0.0116	0.0564	0.0083	0.0083	0.0072	0.0095	0.0707	0.0079	0.0078	0.0647	0.0624	0.0012	0	0.0078	0.0075	0.0707	0.0008	0.0170	0.0057	0.0090	0.0589	0.064	0.44694	T	0.05	0.48855	T	0.964	0.55854	D	0.595	0.50587	P	0.048647	0.23232	N	0.467616	0.57825	0.31234	N	1.39	0.34934	L	2.75	0.11622	T	-2.78	0.59226	D	0.074	0.04790	-1.0976	0.04394	T	0.004	0.01435	T	10	0.0024054945	0.00036	T	.	.	.	0.107	0.30369	.	.	.	.	0.4263791408708797	0.42554	0.220987285755	0.24648	0.283961176872	0.08051	T	0.275429	0.64797	T	-0.632716	0.00092	T	-0.625743	0.10740	T	0.0200631921484089	0.00707	T	0.762324	0.44094	T	0.12541069	0.29400	0.2107837	0.45480	0.12541069	0.29400	0.2107837	0.45479	-9.969	0.76438	D	.	.	0.130	0.34514	B	.;.	.;.	2.545631	0.32935	19.19	0.9987192860215679	0.94989	0.66926	0.33249	D	AEFDBHCI	0.163854	0.29018	N	0.145910387066087	0.48618	3.071912	0.0593109593633821	0.42523	2.573534	0.999999324635554	0.74766	0.55562	0.30534	0	0.61073	0.52368	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.43	3.4	0.38031	3.280000	0.51382	3.752000	0.39687	0.618000	0.50648	0.838000	0.30254	1.000000	0.68203	0.301000	0.24523	0.1128:0.0:0.8872:0.0	12.428	0.54891	818	0.41518	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3682.11	54	chr2	102235010	.	G	A	3682.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.80;DP=968;ExcessHet=0.1072;FS=0.977;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-1.100e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1500,0,1287	19	0	2	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	0/1:58,53,0:111:99:1136,0,1349,1309,1506,2815	3	9	6	2
chr2	107859505	107859505	C	A	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon11:c.C1585A:p.Q529K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.981	D	0.899	P	.	.	0.521	N	2.125	M	0.61	T	-0.488	T	0.242	T	0.607	0.546	6.957	2.6	1.299	6.722	11.866	0.224	0.00893160145094	.	0.000599042	0.0002	0	0	0.0024	0	1.509e-05	0	0	0.0001617	25	154602	rs544450894	2.261e-05	2.257e-05	3.136e-05	1.377e-05	0.0008	1.613e-05	1.419e-05	0.0006	0.0005	0	0	0	0.0008	0	0	0	3.323e-05	0	6.595e-05	7.222e-05	6.451e-05	6.745e-05	0.0015	3.529e-05	2.625e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	2.942e-05	0	0	0.0	0.91255	D	0.009	0.66756	D	0.981	0.59675	D	0.899	0.63802	P	.	.	.	.	0.521369	0.31566	N	2.67	0.78151	M	0.61	0.53516	T	-2.86	0.60188	D	0.842	0.83781	-0.4882	0.69072	T	0.242	0.60976	T	9	0.20537758	0.36762	T	0.008932	0.23535	T	0.224	0.52174	0.386	0.40624	0.225215365344	0.22153	0.3540973771329714	0.35323	.	.	0.678269505501	0.64021	T	0.124903	0.45025	T	-0.281376	0.10522	T	-0.201581	0.54496	T	0.370689297916508	0.27824	T	0.965703	0.87317	D	0.5794217	0.71577	0.6175451	0.77731	0.5794217	0.71578	0.6175451	0.77732	-2.588	0.06413	T	.	.	0.836	0.79019	P	.	.	3.751980	0.53785	23.4	0.84780169375017278	0.15493	0.95677	0.65689	D	AEFI	0.602461	0.59432	D	0.150027438260031	0.48813	3.089029	-0.0377721180348309	0.38022	2.234386	0.0182806054453688	0.13040	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.6	2.6	0.30173	6.836000	0.75141	7.710000	0.66754	0.271000	0.18527	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:1.0:0.0:0.0	11.866	0.51768	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	37	chr2	107859505	.	C	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=996;ExcessHet=0.0000;FS=2.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.08;MQRankSum=-2.240e-01;QD=11.57;ReadPosRankSum=0.681;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,72:152:99:0|1:107859502_A_G:1772,0,1825:107859502	20	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,122,0:122:99:.:.:3563,366,0,3563,366,3563	3	5	3	0
chr2	110118070	110118070	-	T	exonic	MALL	.	frameshift insertion	MALL:NM_001371559:exon1:c.39dupA:p.G14Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs1367001100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0050	0.0034	0.0037	0.0064	0.0033	0.0032	0.0058	0.0055	0.0064	0	0.0028	0.0012	0.0014	0.0065	0.0037	0.0020	0.0035	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	286.01	1	chr2	110118070	.	C	CT	286.01	.	AC=1;AF=0.100;AN=10;BaseQRankSum=-6.660e-01;DP=103;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=1.92;SOR=0.707	GT:AD:DP:GQ:PL	0/1:55,20:94:99:284,0,1298	4	0	1	16
chr2	121736754	121736754	T	C	exonic	NIFK	.	nonsynonymous SNV	NIFK:NM_032390:exon1:c.A97G:p.I33V,	.	.	419	1071	32	0	0	32	0.0147194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.001	B	0.920	N	1.000	N	1.39	L	2.38	T	-0.967	T	0.021	T	0.057	0.358	5.944	-0.361	-0.211	0.124	3.592	0.015	0.00365381184315	0.0005	0.00219649	0.0011	0	0.0011	0	0	0.0012	0.0022	0.0024	0.0010543	163	154602	rs150674424	0.0008	0.0008	0.0006	0.0009	0.0127	0.0007	0.0007	0.0103	0.0095	0.0003	0.0019	0.0003	0	3.744e-05	0.0127	0.0006	0.0016	0.0021	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0.0002	0	0.0068	0.0005	0.0028	0.0021	0.78	0.22920	T	0.72	0.35082	T	0.001	0.07471	B	0.001	0.04355	B	0.919597	0.08496	N	0.962951	1	0.08975	N	0	0.06538	N	2.38	0.15843	T	0.0	0.12661	N	0.05	0.02179	-0.9671	0.37794	T	0.021	0.09009	T	10	0.00405547	0.00079	T	0.003654	0.08402	T	0.015	0.02232	.	.	0.340510301474	0.33666	0.21560032084306935	0.21476	0.0938221672316	0.10595	0.281098932028	0.07646	T	0.012792	0.11182	T	-0.701879	0.00036	T	-0.787144	0.02244	T	0.0225315469418144	0.00969	T	0.318868	0.10241	T	0.032420773	0.03264	0.033643756	0.02295	0.032420773	0.03264	0.033643756	0.02294	-3.715	0.19540	T	.	.	0.073	0.33179	B	.;.	.;.	0.992886	0.13709	10.25	0.76246405758181179	0.11391	0.00590	0.02647	N	ALL	0.019555	0.00689	N	-1.20663186720539	0.04901	0.2222544	-1.28291433113126	0.04661	0.2203831	0.99999999999498	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	-0.361	0.11939	0.123000	0.15536	0.233000	0.16214	0.490000	0.22344	0.006000	0.17386	0.000000	0.08366	0.041000	0.14368	0.0:0.4952:0.2008:0.304	3.592	0.07540	818	0.41518	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3939.66	36	chr2	121736754	.	T	C	3939.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.920e-01;DP=856;ExcessHet=0.0000;FS=1.382;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=-3.960e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/1:43,37:80:99:744,0,968	19	1	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,52,0:127:99:.:.:1053,0,1845,1278,2001,3280	4	10	6	0
chr2	130762402	130762402	G	T	exonic	AMER3	.	nonsynonymous SNV	AMER3:NM_001105193:exon2:c.G330T:p.Q110H	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.99	D	0.923	D	0.616	N	1.000	N	0.895	L	2.18	T	-1.050	T	0.065	T	0.163	1.724	11.72	1.03	-0.029	-0.060	4.780	0.096	0.0031864154185	0.0002	0.000399361	0.0005	0.0001	0.0002	0	0	0.0002	0.0013	0.0024	0.0004398	68	154602	rs369083089	0.0004	0.0004	0.0003	0.0005	0.0023	0.0004	0.0004	0.0020	0.0019	0	0.0002	3.832e-05	0	3.845e-05	0.0004	0.0003	0.0002	0.0023	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	4.808e-05	0	0.0005	0.0003	0	0	0	0.0002	0	0.0021	0.007	0.59928	D	0.062	0.51421	T	0.99	0.63424	D	0.923	0.65830	D	0.616255	0.10820	N	0.797581	0.999975	0.18612	N	0.895	0.22405	L	2.18	0.18875	T	-1.39	0.64132	N	0.111	0.09772	-1.0496	0.14509	T	0.065	0.26948	T	10	0.014009863	0.00295	T	0.003186	0.06966	T	0.096	0.27654	0.703	0.83962	0.32306181527	0.31918	0.18076110469365603	0.17995	0.0364879867005	0.03857	0.423495709896	0.28318	T	0.042857	0.39549	T	-0.54174	0.00327	T	-0.557116	0.16649	T	0.0494349070285999	0.05400	T	0.553945	0.19167	T	0.12171599	0.28617	0.13641785	0.32635	0.12171599	0.28617	0.13641785	0.32634	-3.544	0.17053	T	.	.	0.155	0.34294	B	.;.;.;.	.;.;.;.	1.479478	0.19046	14.06	0.99236389194525254	0.56405	0.14123	0.18235	N	AEFDBI	0.122917	0.23828	N	-0.306492231162555	0.28901	1.598023	-0.481528690701589	0.22663	1.232052	0.0978574383548307	0.16291	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.39	1.03	0.19161	0.048000	0.13962	.	.	0.676000	0.76740	0.549000	0.27338	0.430000	0.24851	0.120000	0.19168	0.3834:0.148:0.4686:0.0	4.780	0.12569	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	845.98	33	chr2	130762402	.	G	T	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=803;ExcessHet=0.0000;FS=0.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=1.89;SOR=0.931	GT:AD:DP:GQ:PL	0/1:33,35:68:99:860,0,807	20	0	1	0
chr2	140350873	140350873	G	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon77:c.C11816G:p.T3939S,	.	.	427	1091	4	0	0	4	0.00182983	.	.	3195795	LRP1B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.997	D	0.97	D	0.000	D	0.999	D	1.78	L	-2.59	D	0.362	D	0.770	D	0.481	3.516	17.96	5.48	2.733	9.275	19.706	0.319	0.104830791566	7.7e-05	.	0.0002	0	8.72e-05	0	0	0.0002	0.0011	0.0002	0.0001552	24	154602	rs139778530	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	8.968e-05	0.0018	0	0	0.0019	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.166e-05	7.718e-05	7.922e-05	6.004e-05	0	0	0.0001	0.0020	0	0	0.0034	0.0001	0.0005	0	0.204	0.20078	T	0.02	0.58613	D	0.997	0.70673	D	0.97	0.72226	D	0.000007	0.62929	D	0.062786	0.999472	0.47197	D	1.04	0.26193	L	-2.59	0.89822	D	-1.61	0.38734	N	0.639	0.65159	0.362	0.88522	D	0.770	0.92167	D	10	0.31495744	0.48932	T	0.104831	0.77961	D	0.538	0.80664	0.341	0.33302	0.518394417877	0.51483	0.5709547180018515	0.57023	0.285637648244	0.30974	0.695107460022	0.66439	T	0.137612	0.47065	T	-0.0611485	0.42727	T	-0.0889435	0.64242	T	0.131688339656085	0.15538	T	0.814918	0.46941	T	0.16915274	0.37415	0.21505639	0.46079	0.16915274	0.37415	0.21505639	0.46079	-3.3	0.13737	T	.	.	0.335	0.55555	B	.	.	3.454578	0.48119	22.6	0.99079100969382783	0.51930	0.99146	0.91905	D	AEFI	0.930685	0.91837	D	0.747453104110559	0.82739	7.837528	0.765358833088256	0.87300	9.174648	0.999999152934207	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	9.365000	0.96546	.	.	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.706	0.96068	936	0.14734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1563.98	34	chr2	140350873	.	G	C	1563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.480e-01;DP=811;ExcessHet=0.0000;FS=0.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-3.100e-02;SOR=0.633	GT:AD:DP:GQ:PL	0/1:57,72:129:99:1578,0,1213	20	0	1	0
chr2	144398984	144398984	G	A	exonic	ZEB2	.	nonsynonymous SNV	ZEB2:NM_001171653:exon7:c.C2131T:p.P711S	Mowat-Wilson syndrome, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	101527	not_specified|Mowat-Wilson_syndrome|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0009341,MedGen:C1856113,OMIM:235730,Orphanet:2152|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.003	B	0.000	D	0.999	D	0.06	N	2.65	T	-1.014	T	0.018	T	0.195	-1.022	0.230	5.04	2.508	4.815	12.160	0.070	.	.	0.00698882	0.0027	9.615e-05	0.0003	0.0001	0	0	0.0022	0.0193	0.0023997	371	154602	rs144154908	0.0012	0.0012	0.0007	0.0017	0.0195	0.0012	0.0012	0.0187	0.0184	5.974e-05	0	0	0	0	0.0012	9.892e-06	0.0014	0.0195	0.0008	0.0008	0.0004	0.0011	0.0241	0.0007	0.0006	0.0205	0.0192	0	0	0	0	0.0002	0	0	0	0	0.0241	0.528	0.07071	T	0.835	0.03674	T	0.001	0.07471	B	0.001	0.04355	B	0.000125	0.49741	D	0.214829	0.999099	0.46054	D	0.46	0.12951	N	2.63	0.12884	T	-0.65	0.18877	N	0.179	0.24260	-1.0138	0.25720	T	0.018	0.07234	T	10	0.004328251	0.00087	T	.	.	.	0.070	0.20419	0.099	0.01433	0.102598925029	0.09809	0.3356665413410724	0.33479	0.708724842934	0.61571	0.646319746971	0.59463	T	0.013473	0.70218	T	-0.578262	0.00198	T	-0.587815	0.13856	T	0.00951147977409587	0.00123	T	0.860314	0.55914	D	0.03296242	0.03421	0.045609538	0.06176	0.030580059	0.02747	0.048962634	0.07382	-3.053	0.10763	T	0.26860644848517057	0.36170	0.107	0.28948	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.051376	0.26077	16.99	0.48451819646568167	0.04044	0.93404	0.58127	D	AEFBCI	0.781181	0.71284	D	-0.242673255659775	0.31396	1.760063	-0.00163318454476123	0.39643	2.353571	0.999999970156495	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	4.896000	0.62911	7.696000	0.66036	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0786:0.0:0.9214:0.0	12.160	0.53406	818	0.41518	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1252.98	35	chr2	144398984	.	G	A	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=931;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.078e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1267,0,1205	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:16,14,4,2:38:99:311,0,324,210,310,799,361,316,603,845	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:16,14,4,2:38:99:311,0,324,210,310,799,361,316,603,845	1	6	10	0
chr2	151531801	151531801	T	G	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon116:c.A16374C:p.Q5458H	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	5	1514	3	0	0	3	0.000989772	.	.	498735	Nemaline_myopathy_2|not_specified	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.977	D	0.945	D	0.000	D	1.000	D	1.41	L	0.82	T	-0.905	T	0.176	T	0.5	4.415	23.4	-1.98	-0.334	0.305	12.811	0.255	0.0376814524712	.	0.000599042	0.0004	0	0	0	0	0	0.0013	0.0033	0.0003105	48	154602	rs542149432	0.0002	0.0002	8.87e-05	0.0003	0.0025	0.0002	0.0001	0.0022	0.0021	0	0	0	0	0	0	1.713e-05	0.0002	0.0025	9.189e-05	9.186e-05	3.853e-05	0.0001	0.0027	5.522e-05	4.36e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.47e-05	0	0.0027	0.063	0.57480	T	0.002	0.83351	D	0.933	0.52105	P	0.866	0.61580	P	0.000004	0.62929	D	0.105016	0.998547	0.45064	D	1.76	0.45711	L	0.82	0.48142	T	-2.19	0.51157	N	0.441	0.52740	-0.9049	0.47458	T	0.176	0.52053	T	10	0.013506621	0.00286	T	0.037681	0.57762	D	0.255	0.56562	0.558	0.67684	0.7439613896	0.74166	0.25442100470547985	0.25356	0.324208047398	0.34584	0.665563344955	0.62205	T	0.036278	0.45935	T	-0.407045	0.02080	T	-0.362395	0.37775	T	0.116429299116135	0.14077	T	0.891911	0.71628	D	0.20497927	0.42625	0.26043993	0.51807	0.21224172	0.43571	0.28166863	0.54149	-5.724	0.43906	T	.	.	0.503	0.64709	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.459043	0.31677	18.81	0.99513931794434551	0.68799	0.87495	0.47053	D	AEFBI	0.331811	0.43141	N	0.0595270006526013	0.44582	2.729605	-0.0116583671145242	0.39186	2.31972	1.43326717728203E-4	0.05573	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.73	-1.98	0.07070	0.402000	0.20690	.	.	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:0.5509:0.0:0.4491	12.811	0.57021	894	0.26265	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1193.98	71	chr2	151531801	.	T	G	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.884e+00;DP=1316;ExcessHet=0.0000;FS=5.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.326;SOR=0.307	GT:AD:DP:GQ:PL	0/1:37,56:93:99:1208,0,900	20	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:76,40:116:99:99,0,1102	3	0	15	3
chr2	160137782	160137782	C	T	exonic	ITGB6	.	nonsynonymous SNV	ITGB6:NM_001282354:exon8:c.G1027A:p.V343M	Amelogenesis imperfecta, type IH, Autosomal recessive	.	427	1025	62	8	0	78	0.0366541	.	.	707793	Amelogenesis_imperfecta_type_1H|not_provided	MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.035	M	-0.45	T	0.169	D	0.481	T	0.699	4.196	21.8	5.2	2.588	3.120	19.113	0.509	.	0.0043	0.00658946	0.0089	0.0014	0.0035	0.0001	0.0012	0.0079	0.0166	0.0287	0.0082793	1280	154602	rs61737764	0.0059	0.0059	0.0051	0.0068	0.0286	0.0058	0.0058	0.0276	0.0273	0.0011	0.0030	0.0084	0.0001	0.0015	0.0277	0.0046	0.0070	0.0286	0.0043	0.0043	0.0039	0.0047	0.0249	0.0040	0.0039	0.0213	0.0199	0.0008	0.0033	0.0032	0.0066	0.0006	0.0012	0.0238	0.0057	0.0071	0.0249	0.003	0.68238	D	0.011	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.345	0.91022	M	-0.45	0.69896	T	-1.8	0.45042	N	0.297	0.34228	0.169	0.85386	D	0.481	0.80170	T	10	0.012100965	0.00261	T	.	.	.	0.509	0.78910	.	.	0.697297187285	0.69468	0.6160951086029223	0.61541	0.0810200920857	0.09117	0.485046923161	0.36752	T	0.771974	0.93904	D	-0.196078	0.21371	T	-0.0327995	0.68183	D	0.0909153406964552	0.11326	T	0.910609	0.69499	D	0.5046076	0.67364	0.3403883	0.59791	0.44955823	0.64013	0.3403883	0.59791	-6.427	0.49884	T	0.7321340703552297	0.81385	0.195	0.41541	B	.;.;.;.;.	.;.;.;.;.	4.120538	0.61586	24.4	0.99910961825783051	0.98022	0.97108	0.72736	D	AEFBI	0.604412	0.59552	D	0.80083389169006	0.86157	8.796558	0.733918385953222	0.84951	8.437762	0.999999989802394	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	3.374000	0.52132	4.071000	0.41665	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	19.113	0.93310	419	0.81524	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3173.68	35	chr2	160137782	.	C	T	3173.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.619e+00;DP=885;ExcessHet=0.3300;FS=8.078;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.212;SOR=0.382	GT:AD:DP:GQ:PL	0/1:36,39:75:99:996,0,855	18	0	3	0
chr2	168996655	168996655	G	A	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon6:c.C457T:p.L153F,	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	.	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.005	B	0.02	B	0.030	N	1.000	N	0.2	N	-2.66	D	-0.647	T	0.428	T	0.111	1.405	10.63	-2.07	-0.256	0.513	11.402	0.235	0.0849301488801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866922858	7.089e-07	6.841e-06	0	1.43e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.20759	T	0.387	0.15650	T	0.005	0.12996	B	0.02	0.19048	B	0.030187	0.25345	N	0.483738	0.999842	0.20103	N	0.28	0.10031	N	-2.66	0.90272	D	-2.49	0.54217	N	0.082	0.05799	-0.6471	0.62840	T	0.428	0.77055	T	10	0.21193233	0.37637	T	0.08493	0.74428	D	0.235	0.53788	0.718	0.85319	0.395894371353	0.39203	0.6412320388184529	0.64058	0.164863425096	0.18598	0.368182957172	0.20570	T	0.639189	0.88914	D	-0.118294	0.33402	T	-0.407697	0.32492	T	0.0792102060446858	0.09885	T	0.687731	0.29668	T	0.10387171	0.24553	0.12084559	0.29160	0.10387171	0.24553	0.12084559	0.29160	-3.945	0.22978	T	0.1056859175718087	0.08407	0.060	0.00949	B	.;.	.;.	-0.140773	0.03405	0.617	0.91905495831988748	0.21226	0.07567	0.13579	N	AEFBI	0.068524	0.13523	N	-1.24575158868994	0.04356	0.1964333	-1.25818246725428	0.05011	0.2377738	0.999738369562293	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.466023	0.07079	0	.	.	5.18	-2.07	0.06873	0.633000	0.24289	0.613000	0.20051	-0.119000	0.14319	0.133000	0.23395	0.025000	0.21018	0.030000	0.13115	0.4934:0.0:0.5066:0.0	11.402	0.49114	752	0.51611	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1179.98	33	chr2	168996655	.	G	A	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.901;DP=853;ExcessHet=0.0000;FS=3.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-9.940e-01;SOR=0.928	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1194,0,1104	20	0	1	0
chr2	169157424	169157424	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11966A:p.C3989Y,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.000	D	1.000	D	1.1	L	-4.52	D	1.092	D	0.933	D	0.956	4.154	21.5	5.88	2.778	7.073	19.823	0.806	0.241548340331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	-4.52	0.97693	D	-9.97	0.98788	D	0.978	0.98840	1.092	0.99320	D	0.933	0.97809	D	10	0.8833375	0.87651	D	0.241548	0.88722	D	0.806	0.93699	0.489	0.57415	0.913727486721	0.91286	0.9963272788796702	0.99630	2.21030123888	0.95757	0.654697299004	0.60652	T	0.59122	0.86761	D	0.547699	0.95668	D	0.548955	0.95604	D	0.999599039554596	0.98068	D	0.99961	0.99838	D	0.95857286	0.97136	0.94939035	0.98363	0.95857286	0.97136	0.94939035	0.98363	-13.597	0.91673	D	.	.	0.987	0.92711	P	.;.	.;.	4.337275	0.66507	25.0	0.99730655281768066	0.82761	0.98691	0.85635	D	AEFBI	0.891640	0.82779	D	0.698004536028874	0.79502	7.091025	0.712999882364409	0.83367	8.00278	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.455000	0.79783	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1014.11	35	chr2	169157424	.	C	T	1014.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.372e+00;DP=811;ExcessHet=0.1072;FS=161.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=-2.470e-01;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,29:109:99:0|1:169157424_C_T:918,0,3252:169157424	19	0	2	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.995	D	0.756	P	0.000	D	1.000	D	0.895	L	-1.6	D	-0.077	T	0.508	D	0.777	4.016	20.6	5.88	2.242	8.453	15.949	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.0625	1021.77	36	chr2	169157427	.	A	G	1021.77	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.196e+00;DP=874;ExcessHet=0.1072;FS=180.188;InbreedingCoeff=-0.1334;MLEAC=3;MLEAF=0.094;MQ=60.00;MQRankSum=0.00;QD=7.00;ReadPosRankSum=-2.800e-02;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,29:108:99:0|1:169157424_C_T:921,0,3230:169157424	14	0	2	5
chr2	169157430	169157430	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11960C:p.F3987S,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.99	D	0.743	P	0.000	D	1.000	D	0.805	L	-1.79	D	-0.037	T	0.497	T	0.833	4.275	22.3	5.88	2.242	8.453	15.949	0.820	0.122439220717	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs61995919	2.186e-06	0.0002	4.374e-06	0	2.902e-06	5.8e-07	1.6e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.902e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.0	0.92824	D	0.99	0.63424	D	0.743	0.55802	P	0.000002	0.62929	D	0.102964	1	0.81001	D	2.74	0.80084	M	-1.79	0.83815	D	-5.18	0.83557	D	0.93	0.93487	-0.0371	0.81481	T	0.497	0.80946	T	10	0.8600701	0.85222	D	0.122439	0.80341	D	0.820	0.94238	0.665	0.80300	0.61012745286	0.60699	0.9427786389111651	0.94258	2.20355478117	0.95687	0.612346053123	0.54648	T	0.344936	0.71339	T	0.305724	0.83417	D	0.201375	0.83202	D	0.992530286312103	0.83038	D	0.530047	0.17581	T	0.5582403	0.70412	0.71140873	0.82975	0.5582403	0.70413	0.71140873	0.82976	-6.333	0.48983	T	.	.	0.965	0.88693	P	.;.	.;.	4.115159	0.61465	24.3	0.99863933463691823	0.94184	0.99146	0.91905	D	AEFBI	0.876095	0.79991	D	0.536490062201209	0.69265	5.332245	0.591566982345825	0.74334	6.11932	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.25	575.39	26	chr2	169157430	.	A	G	575.39	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-5.290e-01;DP=696;ExcessHet=0.1128;FS=181.169;InbreedingCoeff=-0.3334;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=4.05;ReadPosRankSum=0.107;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,24:109:99:0|1:169157424_C_T:871,0,3272:169157424	2	0	2	17
chr2	169157431	169157431	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11959C:p.F3987L,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.043	B	0.014	B	0.000	D	1.000	D	0.46	N	-1.73	D	-0.548	T	0.351	T	0.406	2.878	15.59	5.88	2.242	5.461	15.949	0.338	0.0361222483026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.753e-05	0.0022	0.0001	8.903e-05	0.0001	8.287e-05	7.743e-05	9.794e-05	9.145e-05	3.557e-05	0	0	5.575e-05	0.0001	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.084	0.41239	T	0.043	0.21573	B	0.014	0.16862	B	0.000002	0.62929	D	0.102964	0.999998	0.58761	D	2.045	0.56016	M	-1.73	0.83327	D	-4.13	0.75139	D	0.626	0.64052	-0.5484	0.66847	T	0.351	0.71502	T	10	0.30924746	0.48413	T	0.036122	0.56792	D	0.338	0.66010	0.459	0.52590	0.505559545342	0.50193	0.8869475601486423	0.88663	0.901021167792	0.70643	0.635681688786	0.57951	T	0.353004	0.72036	T	0.0596301	0.59566	T	-0.152122	0.59056	T	0.97569864988327	0.71047	D	0.750125	0.37153	T	0.4331667	0.62959	0.4349336	0.66996	0.4331667	0.62959	0.4349336	0.66996	-5.635	0.43111	T	.	.	0.985	0.92330	P	.;.	.;.	3.238651	0.44194	21.9	0.99575746748544613	0.72682	0.96519	0.69544	D	AEFBI	0.619425	0.60486	D	-0.0799446757033397	0.38272	2.239039	0.131085804566848	0.46146	2.865539	0.990828206028358	0.32281	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	5.781000	0.68615	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.25	578.39	26	chr2	169157431	.	A	G	578.39	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-6.700e-02;DP=694;ExcessHet=0.1128;FS=180.188;InbreedingCoeff=-0.3334;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=4.10;ReadPosRankSum=0.149;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,24:109:99:0|1:169157424_C_T:871,0,3272:169157424	2	0	2	17
chr2	169157433	169157433	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11957C:p.G3986A,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	1.04	L	-1.65	D	0.185	D	0.622	D	0.809	3.779	19.19	5.88	2.778	7.047	19.823	0.685	0.0741312127491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0047	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0004	0	0.0001	7.766e-05	0	0	0.0004	0.0001	9.746e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.054	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.65	0.82625	D	-4.04	0.74427	D	0.875	0.87265	0.185	0.85659	D	0.622	0.86676	D	10	0.8524667	0.84430	D	0.074131	0.71964	D	0.685	0.88490	0.577	0.70217	0.675757427234	0.67301	0.9174403899428152	0.91719	1.7735257329	0.91315	0.485903203487	0.36872	T	0.317913	0.68933	T	0.272253	0.80643	D	0.153296	0.80392	D	0.991292774677277	0.81572	D	0.875412	0.58680	D	0.4754566	0.65624	0.43292475	0.66862	0.4754566	0.65624	0.43292475	0.66862	-8.734	0.65968	D	.	.	0.383	0.58622	A	.;.	.;.	3.800135	0.54746	23.5	0.99552602734415152	0.71211	0.98963	0.89243	D	AEFBI	0.809705	0.73314	D	0.664427782730604	0.77307	6.649371	0.686270369385145	0.81334	7.502817	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	4.890000	0.45755	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	976.96	22	chr2	169157433	.	C	G	976.96	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-8.780e-01;DP=566;ExcessHet=0.1190;FS=161.151;InbreedingCoeff=-0.3523;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=6.65;ReadPosRankSum=0.235;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,29:110:99:0|1:169157424_C_T:868,0,3314:169157424	2	0	2	17
chr2	169157434	169157434	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11956C:p.G3986R,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.04	L	-1.66	D	0.301	D	0.629	D	0.945	4.471	23.9	5.88	2.778	7.047	19.823	0.799	0.118172883463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.487e-05	0.0016	4.341e-05	4.634e-05	6.271e-05	3.572e-05	3.242e-05	4.378e-05	4.003e-05	6.271e-05	0	0	0	0	0	5.582e-05	3.463e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.66	0.82715	D	-5.59	0.86527	D	0.964	0.97426	0.301	0.87568	D	0.629	0.86968	D	10	0.890576	0.88398	D	0.118173	0.79815	D	0.799	0.93425	0.638	0.77470	0.80244631523	0.80060	0.9574406042201115	0.95729	1.86679822297	0.92466	0.568949699402	0.48529	T	0.474796	0.80610	T	0.414005	0.90700	D	0.356913	0.90584	D	0.996428310871124	0.89318	D	0.959004	0.84537	D	0.72273713	0.79314	0.6796857	0.81181	0.72273713	0.79316	0.6796857	0.81182	-7.652	0.58673	D	.	.	0.773	0.76054	P	.;.	.;.	4.159784	0.62465	24.5	0.99916567827365443	0.98449	0.98963	0.89243	D	AEFBI	0.835750	0.75361	D	0.685555810397683	0.78685	6.921854	0.701553584419606	0.82495	7.781566	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3333	581.37	22	chr2	169157434	.	C	G	581.37	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-6.740e-01;DP=565;ExcessHet=0.1190;FS=181.169;InbreedingCoeff=-0.3548;MLEAC=5;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=4.09;ReadPosRankSum=0.340;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,24:110:99:0|1:169157424_C_T:868,0,3314:169157424	1	0	2	18
chr2	169157436	169157436	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11954C:p.G3985A,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	0.895	L	-1.85	D	0.380	D	0.640	D	0.762	2.940	15.80	5.0	1.472	4.231	16.750	0.607	0.094844139814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.963e-05	0.0021	9.586e-05	8.343e-05	0.0001	7.644e-05	7.154e-05	9.486e-05	8.871e-05	3.219e-05	0	3.955e-05	0	0	0	0.0001	7.09e-05	2.388e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.103814	0.999998	0.58761	D	2.815	0.81989	M	-1.85	0.84267	D	-3.44	0.67477	D	0.682	0.68863	0.380	0.88792	D	0.640	0.87434	D	10	0.6728179	0.70815	D	0.094844	0.76324	D	0.607	0.84559	0.496	0.58520	0.827288872919	0.82565	0.8308267525920461	0.83041	1.70071209603	0.90279	0.435361415148	0.29943	T	0.269024	0.64119	T	0.221167	0.75886	D	0.0799145	0.75572	D	0.987110495567322	0.77675	D	0.963604	0.86445	D	0.24565183	0.47526	0.27967104	0.53937	0.24565183	0.47526	0.27967104	0.53936	-6.662	0.51523	T	.	.	0.250	0.48448	B	.;.	.;.	3.405079	0.47205	22.4	0.99252938159557735	0.56924	0.93755	0.59098	D	AEFBI	0.403661	0.47726	N	0.431237016008458	0.63148	4.542994	0.420543337839202	0.62847	4.507159	0.998516418245828	0.37109	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.571000	0.60593	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.8707:0.1293:0.0	16.750	0.85343	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	963.13	28	chr2	169157436	.	C	G	963.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.077e+00;DP=842;ExcessHet=0.1072;FS=160.288;InbreedingCoeff=-0.0507;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.60;ReadPosRankSum=0.012;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,29:109:99:0|1:169157424_C_T:871,0,3272:169157424	19	0	2	0
chr2	169157437	169157437	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11953C:p.G3985R,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	0.55	N	-1.86	D	0.339	D	0.608	D	0.833	3.433	17.61	5.0	1.470	4.256	16.096	0.602	0.203609127207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	0.0002	0	1.38e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.103814	1	0.81001	D	2.815	0.81989	M	-1.86	0.84341	D	-4.75	0.80256	D	0.855	0.85132	0.339	0.88174	D	0.608	0.86081	D	10	0.7769506	0.77537	D	0.203609	0.86885	D	0.602	0.84291	0.524	0.62818	0.774801070231	0.77273	0.9005944074231604	0.90031	1.84831481728	0.92256	0.514880537987	0.40906	T	0.324763	0.69555	T	0.296866	0.82715	D	0.188651	0.82492	D	0.99759715795517	0.91939	D	0.960604	0.85218	D	0.49745262	0.66945	0.3962246	0.64269	0.49745262	0.66946	0.3962246	0.64269	-6.379	0.49345	T	.	.	0.381	0.58505	A	.;.	.;.	3.539775	0.49704	22.8	0.99893898806594628	0.96742	0.97088	0.72619	D	AEFBI	0.648092	0.62303	D	0.376887958852258	0.60170	4.203269	0.37201848805068	0.59845	4.165976	0.99903127065887	0.38264	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.596000	0.60764	5.910000	0.51009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.135:0.865:0.0:0.0	16.096	0.80936	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	966.36	22	chr2	169157437	.	C	G	966.36	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.172e+00;DP=694;ExcessHet=0.1072;FS=181.219;InbreedingCoeff=-0.1238;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=6.95;ReadPosRankSum=0.116;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,24:107:99:.:.:877,0,3188	14	0	2	5
chr2	169674590	169674590	T	-	exonic	CCDC173	.	frameshift deletion	CCDC173:NM_001085447:exon4:c.648delA:p.D217Ifs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1320.94	34	chr2	169674589	.	CT	C	1320.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=736;ExcessHet=0.0000;FS=5.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-7.680e-01;SOR=1.252	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1335,0,1619	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	0/2:67,0,54:121:99:2025,2228,4974,0,2746,2584	10	2	8	0
chr2	178590625	178590625	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon132:c.G33905A:p.R11302Q	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	1516	6	0	0	6	0.00197498	.	.	56333	Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Cardiomyopathy|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	.	.	1.000	D	1.385	L	1.1	T	-0.752	T	0.230	T	0.295	2.822	15.40	6.11	2.906	5.976	20.734	0.310	0.00984408860624	0.0033	0.00119808	0.0038	0.0011	0.0010	0	0.0024	0.0062	0.0022	0.0004	0.0037839	585	154602	rs141973925	0.0047	0.0047	0.0048	0.0045	0.0057	0.0046	0.0045	0.0056	0.0055	0.0010	0.0015	0.0008	0	0.0019	0.0019	0.0057	0.0039	0.0003	0.0029	0.0029	0.0033	0.0025	0.0052	0.0027	0.0026	0.0048	0.0046	0.0007	0	0.0022	0.0012	0	0.0017	0	0.0052	0.0024	0	0.017	0.51248	D	.	.	.	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	1.975	0.53506	M	1.1	0.39050	T	-2.87	0.62343	D	0.422	0.60749	-0.7517	0.57846	T	0.230	0.59546	T	9	0.008304775	0.00188	T	0.009844	0.25653	T	0.310	0.63162	.	.	0.194818534648	0.19098	.	.	0.493090115459	0.47924	0.55912822485	0.47145	T	.	.	.	-0.433933	0.01404	T	-0.393341	0.34160	T	0.0145829211537454	0.00299	T	0.949705	0.81072	D	.	.	.	.	.	.	.	.	-3.638	0.20208	T	.	.	0.299	0.52945	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.521304	0.49360	22.8	0.96765127497267622	0.31013	0.97839	0.77515	D	AEFBI	0.921998	0.89632	D	0.775496218975961	0.84553	8.31964	0.805898633932538	0.90199	10.30045	0.999999999997323	0.74766	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.11	6.11	0.99132	6.058000	0.70754	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.734	0.99718	409	0.82198	.;.;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	1	0	0	0	0	1	0	0.02381	1168.98	71	chr2	178590625	.	C	T	1168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=1208;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=1.63;SOR=0.587	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1183,0,1049	20	0	1	0
chr2	178672473	178672473	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon149:c.G30961A:p.V10321I	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1515	6	0	0	6	0.00197628	.	.	56074	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Tibial_muscular_dystrophy|not_provided|not_specified	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:CN230736|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	D	1.15	L	-0.09	T	-0.865	T	0.164	T	0.126	1.895	12.29	5.19	2.572	1.143	9.275	0.096	0.0295054330711	0.0029	0.000998403	0.0037	0.0010	0.0011	0	0.0024	0.0060	0.0022	0.0001	0.0034152	528	154602	rs202014478	0.0044	0.0044	0.0045	0.0043	0.0053	0.0043	0.0043	0.0052	0.0052	0.0009	0.0015	0.0008	0	0.0019	0.0014	0.0053	0.0035	0.0002	0.0028	0.0028	0.0031	0.0025	0.0050	0.0026	0.0025	0.0046	0.0044	0.0006	0	0.0022	0.0012	0	0.0017	0	0.0050	0.0024	0	0.268	0.16144	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	1.195	0.30194	L	-0.09	0.64818	T	-0.28	0.11547	N	0.094	0.07398	-0.8651	0.50893	T	0.164	0.50094	T	9	0.004096329	0.00080	T	0.029505	0.52003	D	0.096	0.27654	.	.	0.370789594751	0.36692	.	.	0.0686030123765	0.07686	0.452790766954	0.32325	T	.	.	.	-0.542035	0.00326	T	-0.549177	0.17406	T	0.00597533625814752	0.00066	T	0.410359	0.10588	T	.	.	.	.	.	.	.	.	-5.304	0.40190	T	.	.	0.096	0.15430	B	.;.;.;.	.;.;.;.	1.993350	0.25328	16.72	0.96129975553843383	0.28802	0.15508	0.18946	N	AEFBI	0.210716	0.33657	N	-0.250046839986206	0.31101	1.740621	-0.122074926401464	0.34501	1.985312	0.00578402891345855	0.11042	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	0.003000	0.12984	.	.	0.549000	0.26987	0.000000	0.06391	1.000000	0.68203	0.976000	0.56436	0.0:0.7969:0.0:0.2031	9.275	0.36855	399	0.82780	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1341.98	34	chr2	178672473	.	C	T	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=713;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.66;SOR=0.690	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1356,0,976	20	0	1	0
chr2	178747082	178747082	-	TATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG	exonic	TTN	.	nonframeshift insertion	TTN:NM_133379:exon46:c.15317_15318insCTCCACACCCCCAGGAGAGACTCTAGAGCGATA:p.E5112_A5113insTLERYSTPPGE,	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	.	4	1513	5	0	0	5	0.00164962	.	.	56948	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_9|not_provided|TTN-related_disorder|not_specified	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|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0010	0.0010	0	0.0023	0.0057	0.0022	0.0001	0.0002689	7	26028	rs397517815	0.0031	0.0037	0.0032	0.0031	0.0038	0.0030	0.0030	0.0037	0.0037	0.0005	0.0011	0.0005	0	0.0017	0.0012	0.0038	0.0025	6.964e-05	0.0026	0.0027	0.0028	0.0023	0.0046	0.0024	0.0023	0.0042	0.0040	0.0005	0	0.0020	0.0012	0	0.0017	0	0.0046	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1986.94	33	chr2	178747082	.	A	ATATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG	1986.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.382e+00;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.27;ReadPosRankSum=1.34;SOR=0.649	GT:AD:DP:GQ:PL	0/1:41,57:98:99:2001,0,1351	20	0	1	0
chr2	178750222	178750222	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G12178A:p.A4060T,	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	.	.	.	.	.	.	.	.	.	.	1183060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.004	B	.	.	1.000	N	0	N	0.28	T	-1.031	T	0.075	T	0.112	1.138	9.635	2.88	0.844	0.505	4.101	0.028	0.00738157452989	.	.	4.134e-05	0	0	0	0	7.512e-05	0	0	4.53e-05	7	154602	rs770870896	5.817e-05	5.814e-05	5.72e-05	5.916e-05	0.0002	4.812e-05	4.433e-05	6.149e-05	5.655e-05	0	0	0	0	0	0.0002	7.467e-05	1.657e-05	0	3.947e-05	3.938e-05	1.287e-05	6.726e-05	7.366e-05	1.717e-05	1.131e-05	2.851e-05	1.861e-05	0	0	0	0	0	0	0	7.366e-05	0.0005	0	0.204	0.20078	T	0.693	0.05863	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	0.28	0.59037	T	-0.04	0.07590	N	0.059	0.03069	-1.0312	0.20066	T	0.075	0.30242	T	9	0.060110956	0.07331	T	0.007382	0.19576	T	0.028	0.06331	0.373	0.38503	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.405257	0.02138	T	-0.583232	0.14257	T	0.0278445306140882	0.01665	T	0.452755	0.12846	T	.	.	.	.	.	.	.	.	-3.661	0.18744	T	.	.	.	.	.	.	.	0.992733	0.13709	10.25	0.98902598925114982	0.48217	0.11396	0.16606	N	AEFGBI	0.103039	0.20653	N	-0.945897763124768	0.09785	0.4646483	-0.876615715984378	0.12649	0.6518864	0.983591060525443	0.30584	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.76	2.88	0.32617	0.070000	0.14440	.	.	0.599000	0.40250	0.000000	0.06391	0.914000	0.28189	0.015000	0.10482	0.2988:0.4782:0.0:0.2229	4.101	0.09488	341	0.85936	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1314.98	33	chr2	178750222	.	C	T	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.181;DP=1141;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-1.440e+00;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,60:128:99:0|1:178750222_C_T:1329,0,1587:178750222	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:35,0,19:54:37:.:.:37,132,636,0,503,455	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:35,0,19:54:37:.:.:37,132,636,0,503,455	0	0	8	4
chr2	189805814	189805814	-	A	exonic	PMS1	.	frameshift insertion	PMS1:NM_001321049:exon4:c.478dupA:p.L164Vfs*4,	.	.	439	771	31	0	281	312	0.0197076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2849.26	33	chr2	189805813	.	TA	TAA,T	2849.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-9.480e-01;DP=1006;ExcessHet=1.7912;FS=0.538;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=-3.040e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/2:105,15,22:142:99:167,184,2909,0,2223,2720	15	0	5	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:54,23:77:99:156,0,903	0	0	19	2
chr2	199323873	199323873	A	G	exonic	SATB2	.	nonsynonymous SNV	SATB2:NM_001172509:exon9:c.T1472C:p.I491T	Glass syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	0.18	T	-0.329	T	0.376	T	0.851	3.904	19.85	5.96	2.285	9.339	16.448	0.568	0.0425703827274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.497e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	0.15	0.60734	T	-2.26	0.61865	N	0.955	0.97095	-0.3292	0.74156	T	0.376	0.73401	T	10	0.92720294	0.92066	D	0.04257	0.60531	D	0.568	0.82403	0.805	0.92301	0.635899028212	0.63291	0.9604697085027297	0.96032	2.46387727901	0.97434	0.890895605087	0.95371	D	0.479975	0.80916	T	0.261127	0.79633	D	0.137315	0.79369	D	0.908463060855865	0.56306	D	0.992126	0.98962	D	0.41215557	0.61566	0.54178786	0.73517	0.41215557	0.61566	0.54178786	0.73518	-15.097	0.96075	D	0.6709566999866549	0.74590	1.000	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.024745	0.83534	28.1	0.99827830800469564	0.91026	0.99284	0.93939	D	AEFBI	0.927601	0.91051	D	0.846789532133977	0.88924	9.765369	0.849859941436155	0.93007	11.76693	0.999999953588536	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.96	5.96	0.96695	9.325000	0.96006	11.188000	0.88560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.448	0.83801	844	0.36711	CUT domain|CUT domain|CUT domain;.;CUT domain|CUT domain|CUT domain;CUT domain|CUT domain|CUT domain;.;CUT domain|CUT domain|CUT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	76.23	34	chr2	199323873	.	A	G	76.23	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.278e+00;DP=972;ExcessHet=0.1072;FS=179.814;InbreedingCoeff=-0.0476;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=1.54;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,16:112:10:0|1:199323873_A_G:10,0,3087:199323873	19	0	2	0
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/1:30,9,7,0:52:99:100,0,676,119,526,813,230,814,898,1434	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/1:30,9,7,0:52:99:100,0,676,119,526,813,230,814,898,1434	2	0	4	0
chr2	206009583	206009583	T	C	exonic	INO80D	.	nonsynonymous SNV	INO80D:NM_017759:exon9:c.A1754G:p.H585R,	.	.	427	1084	11	0	0	11	0.00504819	.	.	697261	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.199	N	1.000	N	0.69	N	1.54	T	-1.006	T	0.025	T	0.027	0.584	7.154	-0.695	-0.103	1.785	5.579	0.076	.	0.0071	0.00139776	0.0068	0.0014	0.0027	0	0.0153	0.0098	0.0078	0.0006	0.0065458	1012	154602	rs144598064	0.0080	0.0080	0.0080	0.0079	0.0097	0.0078	0.0078	0.0087	0.0086	0.0011	0.0038	0.0093	2.52e-05	0.0153	0.0097	0.0088	0.0073	0.0007	0.0086	0.0086	0.0080	0.0091	0.0118	0.0082	0.0080	0.0112	0.0109	0.0013	0.1075	0.0042	0.0110	0.0002	0.0212	0.0034	0.0118	0.0043	0.0010	0.586	0.05881	T	0.667	0.06365	T	0.0	0.02946	B	0.0	0.01387	B	0.198942	0.16650	N	0.655303	0.999969	0.18878	N	0.55	0.14455	N	1.54	0.30133	T	-0.97	0.25770	N	0.027	0.00571	-1.0057	0.28247	T	0.025	0.10777	T	10	0.0025288165	0.00038	T	.	.	.	0.076	0.22200	.	.	0.043077524339	0.03247	0.07182252728062584	0.07119	0.784832105031	0.65468	0.308417022228	0.11667	T	.	.	.	-0.679744	0.00048	T	-0.735556	0.04080	T	0.00176428672020891	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00625	B	.	.	1.317035	0.17209	13.02	0.64866371886898355	0.07612	0.61749	0.31576	D	AEFBI	0.054014	0.09785	N	-0.945326735392604	0.09798	0.4653177	-0.866453346636752	0.12892	0.6658287	0.117059824760342	0.16792	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	-0.695	0.10723	1.959000	0.40036	0.555000	0.19457	-0.120000	0.14102	1.000000	0.71638	0.954000	0.29108	0.526000	0.29613	0.0:0.2813:0.1337:0.585	5.579	0.16523	638	0.64280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1964.11	36	chr2	206009583	.	T	C	1964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=826;ExcessHet=0.1072;FS=0.575;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-2.720e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/1:48,41:89:99:858,0,1185	19	0	2	0
chr2	206176878	206176878	T	C	exonic	GPR1	.	nonsynonymous SNV	GPR1:NM_001098199:exon3:c.A370G:p.S124G	.	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.51	M	0.59	T	-0.301	T	0.298	T	0.895	4.558	24.7	5.84	2.234	7.907	16.231	0.703	.	0.0064	0.00159744	0.0061	0.0013	0.0025	0	0.0150	0.0087	0.0077	0.0005	0.0059831	925	154602	rs138365581	0.0074	0.0074	0.0075	0.0074	0.0092	0.0073	0.0073	0.0081	0.0081	0.0011	0.0037	0.0069	0	0.0148	0.0092	0.0083	0.0064	0.0007	0.0080	0.0080	0.0073	0.0087	0.0108	0.0076	0.0074	0.0102	0.0099	0.0013	0.1075	0.0039	0.0072	0.0002	0.0209	0	0.0108	0.0043	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.59	0.53943	T	-3.97	0.74051	D	0.893	0.93959	-0.3009	0.74960	T	0.298	0.66914	T	10	0.012977749	0.00277	T	.	.	.	0.703	0.89330	.	.	0.755102455759	0.75288	0.8912139918777888	0.89091	0.151885615318	0.17145	0.560574293137	0.47349	T	0.129223	0.45737	T	-0.0245722	0.48198	T	0.204901	0.83393	D	0.0213724906758188	0.00840	T	.	.	.	0.82972604	0.85883	0.82349724	0.89764	0.82972604	0.85884	0.82349724	0.89764	-8.391	0.63706	D	.	.	0.324	0.54890	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.617720	0.73299	26.0	0.9982713480748433	0.90939	0.98798	0.86991	D	AEFDBI	0.937266	0.93481	D	0.853602016231925	0.89314	9.920547	0.826704792878577	0.91586	10.96202	0.999999998353524	0.74766	0.615755	0.39536	0	0.573888	0.26702	0	0.602189	0.34648	0	0.526803	0.08958	0	.	.	5.84	5.84	0.93373	7.885000	0.85782	7.758000	0.68250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	16.231	0.82165	717	0.55835	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;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	0.02381	1313.98	33	chr2	206176878	.	T	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.140e-01;DP=1254;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.789;SOR=0.669	GT:AD:DP:GQ:PL	0/1:42,58:100:99:1328,0,946	20	0	1	0
chr2	206308643	206308643	A	G	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A4115G:p.D1372G	.	.	.	.	.	.	.	.	.	.	.	2286579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.675	P	0.186	B	.	.	1.000	N	1.525	L	0.58	T	-1.040	T	0.103	T	0.094	1.136	9.628	0.044	0.002	0.056	5.707	0.045	0.0121377284832	.	.	5.832e-05	0	0.0003	0	0	4.522e-05	0.0011	0	4.53e-05	7	154602	rs747341384	4.999e-05	4.994e-05	4.769e-05	5.231e-05	0.0014	4.063e-05	3.738e-05	0.0007	0.0005	2.987e-05	0.0003	0	0	0	0.0014	3.958e-05	9.94e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	5.289e-05	2.836e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.106	0.37872	T	0.675	0.41275	P	0.186	0.36104	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	0.58	0.54149	T	-3.5	0.68178	D	0.066	0.06720	-1.0398	0.17374	T	0.103	0.38069	T	9	0.099188596	0.17983	T	0.012138	0.30444	T	0.045	0.12272	0.157	0.06070	0.305730143919	0.30178	0.07278984605443199	0.07215	0.224327558168	0.24967	0.276559889317	0.07018	T	0.028315	0.33914	T	-0.439016	0.01311	T	-0.566671	0.15756	T	0.130620658397675	0.15440	T	.	.	.	0.076360874	0.17266	0.08782761	0.20439	0.076360874	0.17265	0.08782761	0.20439	-3.911	0.22467	T	.	.	0.102	0.21503	B	.;.;.;.	.;.;.;.	0.545565	0.09141	5.924	0.92398512855108461	0.21810	0.02254	0.06525	N	AEFBI	0.032979	0.03827	N	-0.708036008027068	0.15795	0.7991936	-0.872214299424559	0.12754	0.6579114	9.25399853482627E-5	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	3.63	0.044	0.13543	0.203000	0.17113	0.843000	0.22062	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.021000	0.11733	0.6349:0.0:0.365:0.0	5.707	0.17184	902	0.24074	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1557.98	86	chr2	206308643	.	A	G	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.417;DP=1346;ExcessHet=0.0000;FS=0.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=1.87;SOR=0.757	GT:AD:DP:GQ:PL	0/1:85,69:154:99:1572,0,2004	20	0	1	0
chr2	208124183	208124183	C	A	exonic	CRYGD	.	nonsynonymous SNV	CRYGD:NM_006891:exon2:c.G181T:p.G61C,	Cataract 4, multiple types, Autosomal dominant	.	1	1513	7	1	0	9	0.0029654	.	.	612375	High_myopia|Aculeiform_cataract|not_specified	Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183|Human_Phenotype_Ontology:HP:0010926,MedGen:C1861832|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.255	H	-3.34	D	1.083	D	0.934	D	0.959	3.238	16.85	4.35	2.245	3.732	14.400	0.890	0.480295520724	.	0.000399361	0.0004	0.0022	0.0007	0.0001	0.0002	9.508e-05	0.0012	0.0007	0.0003687	57	154602	rs150857132	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0015	0.0014	0.0019	0.0009	3.828e-05	0.0006	3.786e-05	0.0009	0.0002	0.0005	0.0008	0.0009	0.0009	0.0009	0.0009	0.0020	0.0008	0.0007	0.0017	0.0015	0.0020	0	0.0017	0	0.0017	0	0	0.0001	0.0005	0.0012	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.335	0.98404	H	-3.34	0.93975	D	-8.62	0.97496	D	0.894	0.89353	1.083	0.98974	D	0.934	0.97839	D	10	0.8649771	0.85736	D	0.480296	0.94830	D	0.890	0.96836	.	.	0.971415806667	0.97110	0.8639262326446062	0.86356	0.91937406981	0.71397	0.489978194237	0.37435	T	0.874574	0.97319	D	0.188978	0.72870	D	0.493129	0.94469	D	0.223583431498506	0.21641	T	.	.	.	0.9839782	0.99398	0.9222859	0.96558	0.9839782	0.99398	0.9222859	0.96559	-12.919	0.89026	D	.	.	0.847	0.79595	P	.	.	3.498325	0.48928	22.7	0.99745039141813074	0.83778	0.98347	0.81862	D	AEFDBI	0.789676	0.71880	D	0.698254764658041	0.79516	7.094465	0.508805880472586	0.68580	5.239877	0.999999999714344	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.35	4.35	0.51454	3.938000	0.56295	1.790000	0.28791	0.469000	0.21855	0.986000	0.36153	0.968000	0.29604	0.037000	0.13953	0.0:1.0:0.0:0.0	14.400	0.66603	870	0.31527	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1776.11	34	chr2	208124183	.	C	A	1776.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.93;DP=837;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.24;MQRankSum=-3.761e+00;QD=10.45;ReadPosRankSum=0.139;SOR=0.731	GT:AD:DP:GQ:PL	0/1:45,28:73:99:616,0,985	19	0	2	0
chr2	214809467	214809467	C	T	exonic	BARD1	.	nonsynonymous SNV	BARD1:NM_000465:exon1:c.G103A:p.A35T	.	YES	.	.	.	.	.	.	.	.	.	152693	Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.244	B	0.039	B	0.022	N	1.000	D	1.83	L	-0.8	T	-0.586	T	0.395	T	0.134	4.239	22.1	2.16	1.020	0.235	5.003	0.189	0.507807750043	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587782865	6.856e-07	1.368e-06	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.34800	T	0.395	0.92824	T	0.244	0.31025	B	0.039	0.23607	B	0.021801	0.26758	N	0.409226	0.966421	0.81001	D	1.65	0.42232	L	-0.8	0.85320	T	-0.66	0.19085	N	0.127	0.21449	-0.5864	0.65364	T	0.395	0.74822	T	10	0.17375475	0.32218	T	0.507808	0.95254	D	0.189	0.46613	0.086	0.00867	0.919638224799	0.91882	0.4010686405369734	0.40021	0.169635432466	0.19127	0.727155208588	0.71091	T	0.055216	0.29943	T	-0.0625415	0.42509	T	-0.327613	0.41734	T	0.306891918182373	0.25286	T	0.922308	0.71859	D	0.1703427	0.37603	0.14095776	0.33583	0.1703427	0.37603	0.14095776	0.33582	-4.883	0.37378	T	.	.	0.174	0.52293	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.974323	0.39654	21.0	0.998558161105078	0.93458	0.35967	0.25424	N	ALL	0.108958	0.21658	N	-0.255759901827886	0.30874	1.72569	-0.185048627629466	0.32084	1.821959	0.99999999999724	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.99	2.16	0.26663	0.244000	0.17899	2.503000	0.33037	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.686000	0.33718	0.17:0.6351:0.0:0.1948	5.003	0.13619	869	0.31655	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1394.98	33	chr2	214809467	.	C	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.060e-01;DP=859;ExcessHet=0.0000;FS=3.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.714;SOR=0.453	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1409,0,1698	20	0	1	0
chr2	214990845	214990845	T	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon16:c.A2527T:p.M843L	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	YES	0	1515	7	0	0	7	0.00230491	.	.	612594	Congenital_ichthyosis_of_skin|not_provided|ABCA12-related_disorder	MedGen:C0020758|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.854	P	0.406	B	0.000	D	1.000	D	0.885	L	-1.83	D	-0.338	T	0.335	T	0.676	0.940	8.830	5.91	2.263	5.135	16.347	0.414	0.0207983570593	0.0011	0.00219649	0.0016	0.0026	8.637e-05	0	0	0.0007	0.0011	0.0070	0.0013842	214	154602	rs141077206	0.0007	0.0007	0.0006	0.0009	0.0059	0.0007	0.0007	0.0055	0.0053	0.0017	0.0003	0.0060	0	0	0.0028	0.0002	0.0011	0.0059	0.0011	0.0011	0.0010	0.0011	0.0062	0.0009	0.0009	0.0045	0.0039	0.0019	0	0.0011	0.0043	0	0	0.0034	0.0003	0.0009	0.0062	0.89	0.02483	T	0.286	0.21277	T	0.854	0.47077	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	0.963155	0.38332	D	0.35	0.11930	N	-1.83	0.84122	D	-0.64	0.18670	N	0.519	0.54932	-0.3384	0.73890	T	0.335	0.70223	T	10	0.0123568475	0.00266	T	0.020798	0.43464	T	0.414	0.72479	0.43	0.47843	0.768038034916	0.76591	0.7767034198133183	0.77620	0.233930618868	0.25932	0.53394818306	0.43591	T	0.252747	0.62318	T	-0.187099	0.22685	T	-0.0387803	0.67784	D	0.0445759225380742	0.04524	T	0.814918	0.46941	T	0.42291313	0.62285	0.22326474	0.47199	0.40988615	0.61411	0.25103292	0.50706	-2.465	0.05547	T	0.2979373927463504	0.39509	0.235	0.47016	B	.;.	.;.	3.465486	0.48318	22.6	0.88152865332527308	0.17756	0.92263	0.55310	D	AEFGI	0.511323	0.54000	D	0.00241462213294483	0.41965	2.519734	0.187456525975822	0.49157	3.122493	0.171636058248568	0.17744	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	5.116000	0.64498	7.897000	0.73349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	16.347	0.82972	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	0.02381	1589.98	34	chr2	214990845	.	T	A	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.111e+00;DP=829;ExcessHet=0.0000;FS=2.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.796e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1604,0,1355	20	0	1	0
chr2	215011645	215011645	A	G	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon9:c.T1172C:p.M391T	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.029	B	0.028	B	0.017	N	1.000	D	0.55	N	-2.3	D	-0.399	T	0.429	T	0.505	1.185	9.820	5.28	2.127	5.486	13.015	0.368	0.0705776854373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305898894	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.002	0.79402	D	0.029	0.19866	B	0.019	0.21332	B	0.016772	0.27892	N	0.349673	0.608341	0.32599	D	1.5	0.37844	L	-2.31	0.87750	D	-1.32	0.32991	N	0.341	0.39962	-0.3987	0.72068	T	0.429	0.77173	T	10	0.31070635	0.48546	T	0.070578	0.71041	D	0.368	0.68757	0.417	0.45709	0.756346533954	0.75413	0.7126344256086378	0.71205	0.228942827075	0.25452	0.497549325228	0.38486	T	0.149215	0.48812	T	0.0798106	0.62018	D	-0.123134	0.61545	T	0.180509870325262	0.19267	T	0.656934	0.26653	T	0.19473584	0.41235	0.19033487	0.42431	0.19473584	0.41235	0.19033487	0.42430	-4.133	0.25775	T	0.11768709802947898	0.10779	0.125	0.29367	B	.;.	.;.	2.240007	0.28600	17.85	0.93316308879528076	0.23035	0.98410	0.82490	D	AEFI	0.407035	0.47928	N	-0.182281790770321	0.33874	1.926745	-0.00337634151229583	0.39564	2.347663	0.398246248882696	0.20107	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	5.763000	0.68467	11.216000	0.89583	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.348000	0.25613	1.0:0.0:0.0:0.0	13.015	0.58157	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1558.98	13	chr2	215011645	.	A	G	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=535;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=-1.504e+00;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,42:85:99:0|1:215011645_A_G:1573,0,1639:215011645	20	0	1	0
chr2	215025738	215025738	A	G	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon3:c.T268C:p.S90P	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	YES	6	1507	8	1	0	10	0.00330688	.	.	612595	not_provided|ABCA12-related_disorder|Congenital_ichthyosis_of_skin	MedGen:C3661900|.|MedGen:C0020758	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.006	B	0.299	N	1.000	D	0.205	N	0.59	T	-1.094	T	0.058	T	0.196	1.560	11.17	2.28	0.466	0.791	7.240	0.013	.	7.7e-05	0.00259585	0.0015	0	8.655e-05	0	0	0.0002	0.0011	0.0096	0.0012678	196	154602	rs189141015	0.0007	0.0007	0.0004	0.0009	0.0081	0.0007	0.0006	0.0076	0.0074	2.988e-05	0.0004	0	0	0	0.0030	0.0002	0.0008	0.0081	0.0005	0.0005	0.0005	0.0006	0.0091	0.0004	0.0004	0.0070	0.0062	4.832e-05	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0091	0.213	0.19430	T	0.243	0.25210	T	0.001	0.09854	B	0.002	0.12133	B	0.298807	0.14635	N	0.659470	0.954376	0.26371	N	0.55	0.14455	N	0.59	0.53943	T	-0.88	0.27876	N	0.192	0.21056	-1.0937	0.04944	T	0.058	0.24167	T	10	0.004335612	0.00088	T	.	.	.	0.013	0.01715	.	.	0.465633601861	0.46191	0.5242788157450186	0.52351	0.230863346288	0.25632	0.37533518672	0.21594	T	0.073936	0.34819	T	-0.514878	0.00471	T	-0.50639	0.21688	T	0.00618400272459661	0.00068	T	0.510149	0.16261	T	0.22495826	0.45148	0.19881599	0.43732	0.21770963	0.44260	0.24011555	0.49377	-4.976	0.36579	T	.	.	0.177	0.38640	B	.;.	.;.	1.742373	0.22170	15.51	0.98008265306819853	0.37536	0.48581	0.28239	N	AEFI	0.153102	0.27790	N	-0.616353740891183	0.18452	0.9581336	-0.430063257629103	0.24120	1.319045	2.67201773703917E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	2.28	0.27583	0.793000	0.26604	1.105000	0.24105	-0.041000	0.17446	0.999000	0.42656	0.472000	0.25058	0.974000	0.55675	0.7505:0.0:0.2495:0.0	7.240	0.25269	868	0.31772	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1174.98	41	chr2	215025738	.	A	G	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.380e-01;DP=953;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.560;SOR=0.886	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1189,0,1534	20	0	1	0
chr2	219506704	219506704	G	A	exonic	GMPPA	.	nonsynonymous SNV	GMPPA:NM_001374294:exon13:c.G1169A:p.R390Q	Alacrima, achalasia, and mental retardation syndrome, Autosomal recessive	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.121	B	0.024	B	0.000	D	0.761	D	0.345	N	2.32	T	-1.062	T	0.023	T	0.302	1.898	12.30	4.08	1.977	4.969	7.857	0.060	0.110858009647	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467274040	5.558e-06	1.232e-05	6.929e-06	4.179e-06	0.0003	2.39e-06	1.73e-06	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	2.747e-06	3.356e-05	1.166e-05	1.317e-05	1.314e-05	2.573e-05	0	2.419e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	0	0	0	0	0	1.471e-05	0	0	0.375	0.11370	T	0.478	0.11968	T	0.041	0.26708	B	0.011	0.20255	B	0.000289	0.46274	D	0.137045	0.760725	0.34035	D	0.205	0.09354	N	2.32	0.17271	T	0.05	0.06868	N	0.191	0.29197	-1.0621	0.11239	T	0.023	0.09787	T	10	0.1794127	0.33075	T	0.110858	0.78841	D	0.060	0.17295	0.664	0.80199	0.41219620536	0.40839	0.62835393200078	0.62768	0.463344262132	0.45844	0.666297912598	0.62310	T	0.27163	0.64398	T	-0.0692943	0.41439	T	-0.155166	0.58785	T	0.315845936536789	0.25653	T	0.928707	0.82144	D	0.04058846	0.05820	0.036947172	0.03245	0.04058846	0.05820	0.036947172	0.03244	-4.321	0.28470	T	.	.	0.086	0.10883	B	.;.;.;.;.	.;.;.;.;.	4.529990	0.71108	25.6	0.98701857635669821	0.44924	0.87661	0.47275	D	AEFDBCI	0.638729	0.61704	D	-0.172957234295375	0.34264	1.953623	-0.010969219537068	0.39218	2.322028	0.99991917128053	0.45857	0.730579	0.87903	0	0.724815	0.89359	0	0.749866	0.98131	0	0.714379	0.83352	0	.	.	4.08	4.08	0.46880	6.256000	0.72433	11.751000	0.95409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.1918:0.0:0.8082:0.0	7.857	0.28647	96	0.96030	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1160.98	34	chr2	219506704	.	G	A	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.516;DP=850;ExcessHet=0.0000;FS=0.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-2.470e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1175,0,830	20	0	1	0
chr2	219570260	219570260	C	T	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon1:c.G973A:p.A325T	3-M syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	.	.	1.000	D	2.68	M	-0.29	T	0.133	D	0.523	D	0.368	4.042	20.7	4.8	2.491	3.884	18.023	0.493	0.154848520199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.008	0.67890	D	0.999	0.90584	D	0.996	0.92359	D	.	.	.	.	1	0.81001	D	2.41	0.69639	M	-0.29	0.67712	T	-2.31	0.51319	N	0.354	0.54671	0.133	0.84768	D	0.523	0.82230	D	9	0.45845473	0.59136	T	0.154849	0.83589	D	0.493	0.77910	0.726	0.86024	0.696565107391	0.69394	0.6009250472064176	0.60023	0.644217916361	0.57924	0.810928344727	0.83634	D	0.051462	0.28885	T	-0.00111912	0.51500	T	-0.239384	0.50859	T	0.922293603420258	0.58237	D	0.883612	0.60617	D	0.3017762	0.53064	0.32972023	0.58849	0.3017762	0.53064	0.32972023	0.58848	-7.548	0.57996	D	.	.	0.346	0.56337	A	.;.;.;.	.;.;.;.	4.437535	0.68866	25.3	0.99882739480232596	0.95892	0.81637	0.41001	D	AEFDBHCI	0.539252	0.55630	D	0.617361603723543	0.74271	6.104613	0.527869372558248	0.69874	5.422841	0.999999986791439	0.74766	0.627647	0.40530	0	0.563428	0.19063	0	0.672317	0.60874	0	0.604282	0.37693	0	.	.	4.8	4.8	0.61157	4.019000	0.56893	7.664000	0.64404	0.580000	0.29708	0.994000	0.38300	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	18.023	0.89184	116	0.95299	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	790.98	36	chr2	219570260	.	C	T	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e-01;DP=789;ExcessHet=0.0000;FS=0.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.60;ReadPosRankSum=1.45;SOR=0.605	GT:AD:DP:GQ:PL	0/1:55,37:92:99:805,0,1379	20	0	1	0
chr2	229860502	229860502	C	T	exonic	TRIP12	.	nonsynonymous SNV	TRIP12:NM_001284214:exon3:c.G128A:p.G43E	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.007	B	0.423	U	1.000	N	.	.	0.99	T	-1.088	T	0.054	T	0.213	1.989	12.61	4.04	1.485	5.644	14.793	0.100	0.0197008256156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	2.729e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.66e-05	0	6.576e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.757	0.29823	T	0.663	0.35082	T	.	.	.	.	.	.	0.422779	0.12848	U	0.595364	1	0.81001	D	.	.	.	0.99	0.41750	T	0.05	0.11913	N	0.415	0.45520	-1.0884	0.05804	T	0.054	0.22693	T	9	0.105422735	0.19485	T	0.019701	0.42129	T	0.100	0.28662	0.208	0.12497	0.123314135267	0.11883	0.1507100083719627	0.14992	.	.	.	.	.	0.013644	0.11764	T	-0.177382	0.24125	T	-0.492574	0.23121	T	0.801223576068878	0.46437	D	0.942406	0.78384	D	.	.	.	.	.	.	.	.	-3.247	0.13063	T	.	.	0.199	0.42156	B	.;.;.	.;.;.	4.051384	0.60059	24.2	0.91876856545820851	0.21193	0.85352	0.44476	D	AEFBHCI	0.511462	0.54008	D	-0.365632862297649	0.26702	1.459309	-0.161704188585788	0.32959	1.880461	0.998489645413268	0.37052	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.89	4.04	0.46262	5.748000	0.68333	5.075000	0.47214	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.4391:0.5609:0.0	14.793	0.69482	876	0.30350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1006.98	37	chr2	229860502	.	C	T	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=766;ExcessHet=0.0000;FS=1.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.259;SOR=0.958	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1021,0,1061	20	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,44,0:91:99:.:.:1947,0,1720,1980,1895,3892	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,44,0:91:99:.:.:1947,0,1720,1980,1895,3892	6	4	10	0
chr2	238104792	238104792	G	T	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_194312:exon3:c.G622T:p.A208S,	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.058	B	0.015	B	0.665	N	1.000	N	2.555	M	0.34	T	-0.973	T	0.192	T	0.502	0.163	4.879	0.466	0.026	0.299	4.734	0.214	0.096705560235	.	.	7.798e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs147264039	5.611e-05	6.156e-05	3.894e-05	7.358e-05	0.0019	4.59e-05	4.252e-05	0.0010	0.0007	3.077e-05	2.452e-05	0	0	0	0.0019	6.114e-05	3.394e-05	0	3.285e-05	3.283e-05	3.854e-05	2.689e-05	6.541e-05	1.261e-05	7.98e-06	7.99e-06	2.99e-06	4.824e-05	0	6.541e-05	0	0	0	0	2.94e-05	0	0	0.447	0.09075	T	0.427	0.14412	T	0.058	0.22967	B	0.015	0.17295	B	0.664932	0.06002	N	1.209900	1	0.08975	N	1.15	0.29295	L	0.34	0.58613	T	-0.61	0.18042	N	0.346	0.41459	-0.9730	0.36562	T	0.192	0.54389	T	10	0.19344032	0.35114	T	0.096706	0.76649	D	0.214	0.50650	0.735	0.86806	0.0762999501168	0.06990	0.22303823558015012	0.22218	0.129197832396	0.14567	0.545440077782	0.45214	T	0.004899	0.04322	T	-0.249216	0.14195	T	-0.380423	0.35672	T	0.0132685363304679	0.00237	T	0.647735	0.27458	T	0.09634939	0.22691	0.06429636	0.12864	0.09634939	0.22691	0.06429636	0.12864	-7.378	0.56750	T	.	.	0.156	0.44669	B	.;.	.;.	0.798086	0.11688	8.268	0.9093328550477916	0.20182	0.05126	0.10933	N	AEFDBI	0.062500	0.12019	N	-0.67430289244163	0.16756	0.8565039	-0.72574218351996	0.16321	0.8628196	0.99839218029437	0.36888	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.8	0.466	0.15928	0.397000	0.20608	1.839000	0.29174	0.676000	0.76740	0.000000	0.06391	0.012000	0.20211	0.135000	0.19760	0.0843:0.4019:0.3677:0.1461	4.734	0.12357	970	0.06235	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1580.98	35	chr2	238104792	.	G	T	1580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=0.216;SOR=0.704	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1595,0,1525	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,72,0:75:99:.:.:2980,174,0,2988,217,3032	5	7	8	0
chr2	240891751	240891751	G	A	exonic	MAB21L4	.	nonsynonymous SNV	MAB21L4:NM_001085437:exon2:c.C527T:p.A176V	.	.	419	1089	14	0	0	14	0.00638686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.095	B	0.02	B	0.012	N	1.000	N	1.225	L	2.59	T	-1.029	T	0.024	T	0.223	0.002	4.023	0.325	-0.169	0.575	6.846	0.021	0.0108186377131	0.0005	0.000998403	0.0009	0.0016	0.0007	0	0	0.0007	0.0034	0.0022	0.0007568	117	154602	rs201604905	0.0005	0.0005	0.0004	0.0006	0.0059	0.0005	0.0005	0.0043	0.0038	0.0011	0.0003	0.0028	5.042e-05	0	0.0059	0.0003	0.0010	0.0025	0.0008	0.0008	0.0008	0.0007	0.0016	0.0007	0.0006	0.0013	0.0012	0.0016	0	0.0004	0.0017	0.0002	0	0.0034	0.0004	0.0009	0.0012	0.103	0.31682	T	0.164	0.33442	T	0.078	0.24389	B	0.012	0.16460	B	0.011502	0.29503	N	0.234705	1	0.08975	N	.	.	.	2.59	0.13317	T	-1.77	0.41809	N	0.137	0.13484	-1.0287	0.20876	T	0.024	0.10419	T	10	0.0045983195	0.00096	T	0.010819	0.27789	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.35883695406420824	0.35797	0.0728121074558	0.08157	.	.	.	0.026109	0.19387	T	-0.607646	0.00131	T	-0.651476	0.08851	T	0.00406787252061537	0.00043	T	0.654235	0.26653	T	0.03601277	0.04350	0.046702866	0.06566	0.03601277	0.04350	0.046702866	0.06566	-2.855	0.08701	T	.	.	0.119	0.29941	B	.;.;.	.;.;.	0.580636	0.09490	6.269	0.93161620481933205	0.22814	0.03500	0.08672	N	AEFDBI	0.050115	0.08728	N	-1.03396349406728	0.07906	0.3688617	-1.09987671852482	0.07703	0.3757531	0.745550986779005	0.23279	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.24	0.325	0.15145	-0.372000	0.07559	-0.121000	0.11721	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4148:0.0:0.5852:0.0	6.846	0.23169	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	960.98	34	chr2	240891751	.	G	A	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=1139;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=-1.286e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:55,43:98:99:975,0,1215	20	0	1	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:32,6,27:71:99:554,389,1312,0,521,526	0	0	1	0
chr3	10249268	10249268	G	A	exonic	TATDN2	.	nonsynonymous SNV	TATDN2:NM_014760:exon2:c.G68A:p.R23H,	.	.	427	1078	16	1	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.761	P	.	.	0.592	D	1.87	L	1.33	T	-0.856	T	0.051	T	0.563	4.624	25.3	2.86	0.883	2.289	8.424	0.158	.	0.0002	0.0199681	0.0095	0.0001	0.0009	0.0354	0	0.0003	0.0064	0.0662	0.0083828	1296	154602	rs148376271	0.0040	0.0040	0.0028	0.0052	0.0494	0.0039	0.0039	0.0481	0.0476	0.0003	0.0003	8.363e-05	0.0275	1.916e-05	0.0021	0.0001	0.0059	0.0494	0.0031	0.0032	0.0021	0.0042	0.0570	0.0029	0.0028	0.0514	0.0493	0.0002	0	0.0006	0	0.0330	0	0	0.0002	0.0009	0.0570	0.0	0.91255	D	0.007	0.69154	D	0.999	0.77913	D	0.761	0.56482	P	.	.	.	.	0.591672	0.32461	D	2.35	0.67516	M	1.33	0.35031	T	-1.34	0.33401	N	0.531	0.55972	-0.8563	0.51527	T	0.051	0.21728	T	9	0.0032314062	0.00055	T	.	.	.	0.158	0.41098	.	.	0.548779645056	0.54534	0.23889582964326989	0.23803	0.767720231024	0.64598	0.535856187344	0.43861	T	0.00496	0.04384	T	-0.367149	0.03741	T	-0.262917	0.48532	T	0.0616320266438867	0.07423	T	0.759724	0.38410	T	0.2926532	0.52239	0.4018956	0.64687	0.2926532	0.52238	0.4018956	0.64687	-6.23	0.48165	T	.	.	0.125	0.26451	B	.;.	.;.	4.255123	0.64624	24.7	0.99936507980052913	0.99621	0.55553	0.29893	D	AEFDGBHCI	0.250407	0.37046	N	0.33369196127615	0.57886	3.957777	0.267361713276655	0.53642	3.532272	0.999999999890613	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.77	2.86	0.32427	2.310000	0.43368	5.999000	0.52457	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7667:0.2333	8.424	0.31879	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	42	chr3	10249268	.	G	A	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.032;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=1.65;SOR=0.741	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1028,0,979	20	0	1	0
chr3	12600208	12600208	C	T	exonic	RAF1	.	nonsynonymous SNV	RAF1:NM_001354695:exon7:c.G592A:p.V198M	Cardiomyopathy, dilated, 1NN, Autosomal dominant;LEOPARD syndrome 2;Noonan syndrome 5	.	0	1520	2	0	0	2	0.000657462	.	.	452141	not_specified|Noonan_syndrome_5|LEOPARD_syndrome_2|not_provided|RASopathy|Noonan_syndrome_and_Noonan-related_syndrome	MedGen:CN169374|MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553,Orphanet:648|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554,Orphanet:500|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.689	P	0.186	B	0.016	N	0.999	D	0.345	N	-0.88	T	-0.931	T	0.175	T	0.167	1.923	12.39	2.95	0.346	1.331	9.585	0.063	0.0421732699098	.	0.000199681	4.948e-05	0	0	0	0	1.501e-05	0	0.0003	5.17e-05	8	154602	rs555034652	3.147e-05	3.147e-05	2.722e-05	3.575e-05	0.0003	2.412e-05	2.157e-05	0.0002	0.0001	0	0.0001	0	0	0	0.0002	1.169e-05	6.623e-05	0.0003	4.598e-05	4.594e-05	3.855e-05	5.374e-05	0.0004	2.108e-05	1.526e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0	0.0002	0.237	0.19927	T	0.139	0.33666	T	0.169	0.28678	B	0.011	0.15521	B	0.015695	0.28177	N	0.422396	0.989126	0.45064	D	1.245	0.31408	L	-0.96	0.75553	T	0.08	0.07155	N	0.204	0.26596	-0.9315	0.43918	T	0.175	0.51832	T	10	0.05152732	0.05049	T	0.042173	0.60324	D	0.063	0.18251	0.211	0.12923	0.474368926326	0.47065	0.4039640969301252	0.40312	0.463496485926	0.45855	0.379684746265	0.22212	T	0.39121	0.75119	T	-0.292326	0.09404	T	-0.365534	0.37412	T	0.0260623689014193	0.01415	T	0.451355	0.34901	T	0.047702424	0.08198	0.054515824	0.09390	0.047702424	0.08198	0.054515824	0.09390	-5.528	0.42755	T	0.2261150185209121	0.30557	0.084	0.16670	B	.;.;.	.;.;.	1.218209	0.16117	12.33	0.98423365100985316	0.41309	0.90472	0.51676	D	AEFBI	0.211943	0.33768	N	-0.560426016215235	0.20158	1.060611	-0.432243241880796	0.24057	1.31527	0.998481157267018	0.37052	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.69	2.95	0.33285	1.373000	0.33877	0.271000	0.16657	-0.848000	0.02741	0.820000	0.29989	0.010000	0.20010	0.700000	0.34141	0.0:0.7841:0.0:0.2159	9.585	0.38673	673	0.60677	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1105.98	35	chr3	12600208	.	C	T	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-5.190e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1120,0,837	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/6:0,46,0,0,0,0,48:101:99:4094,2016,1865,4009,2011,3997,4009,2011,3997,3997,4009,2011,3997,3997,3997,4009,2011,3997,3997,3997,3997,1920,0,1916,1916,1916,1916,1771	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/6:0,46,0,0,0,0,48:101:99:4094,2016,1865,4009,2011,3997,4009,2011,3997,3997,4009,2011,3997,3997,3997,4009,2011,3997,3997,3997,3997,1920,0,1916,1916,1916,1916,1771	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/6:0,46,0,0,0,0,48:101:99:4094,2016,1865,4009,2011,3997,4009,2011,3997,3997,4009,2011,3997,3997,3997,4009,2011,3997,3997,3997,3997,1920,0,1916,1916,1916,1916,1771	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/6:0,46,0,0,0,0,48:101:99:4094,2016,1865,4009,2011,3997,4009,2011,3997,3997,4009,2011,3997,3997,3997,4009,2011,3997,3997,3997,3997,1920,0,1916,1916,1916,1916,1771	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/6:0,46,0,0,0,0,48:101:99:4094,2016,1865,4009,2011,3997,4009,2011,3997,3997,4009,2011,3997,3997,3997,4009,2011,3997,3997,3997,3997,1920,0,1916,1916,1916,1916,1771	1	2	2	0
chr3	41754410	41754410	A	G	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon21:c.T1366C:p.Y456H	.	.	427	1085	9	1	0	11	0.00504356	.	.	2210949	ULK4-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.007	B	0.004	B	0.017	U	1.000	D	0.69	N	-0.13	T	-1.018	T	0.112	T	0.38	0.278	5.505	3.97	1.914	3.895	5.164	0.090	0.0141539933439	0.0011	.	0.0006	0.0003	0.0003	0	0	0.0008	0.0011	0.0010	0.0005951	92	154602	rs200312148	0.0008	0.0008	0.0007	0.0008	0.0019	0.0007	0.0007	0.0011	0.0008	0.0002	0.0006	0	0	0	0.0019	0.0009	0.0006	0.0009	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0004	0.0006	0	0	0	0.0008	0.0009	0.0010	0.503	0.07670	T	0.388	0.15602	T	0.007	0.14184	B	0.004	0.10090	B	0.016977	0.27840	U	0.271797	0.997665	0.22562	N	0.92	0.23413	L	-0.13	0.64818	T	-0.57	0.17210	N	0.458	0.49511	-1.0176	0.24495	T	0.112	0.40029	T	10	0.04132268	0.02778	T	0.014154	0.34071	T	0.090	0.26093	.	.	0.451213972277	0.44741	0.2544449249923426	0.25358	0.0428625080513	0.04625	0.509934425354	0.40213	T	0.005714	0.05159	T	-0.342968	0.05185	T	-0.334249	0.40994	T	0.0130988997798538	0.00230	T	0.783222	0.41972	T	0.06377514	0.13463	0.054908097	0.09533	0.06377514	0.13463	0.054908097	0.09532	-5.325	0.40190	T	.	.	0.132	0.28348	B	.	.	1.555082	0.19923	14.50	0.9079094983024093	0.20040	0.50353	0.28643	D	AEFI	0.104464	0.20901	N	-0.463199714713579	0.23293	1.249914	-0.346460815291903	0.26618	1.471486	0.0044859290616563	0.10581	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.11	3.97	0.45241	3.604000	0.53832	4.570000	0.43877	0.756000	0.94297	0.995000	0.38783	0.999000	0.35428	0.682000	0.33600	0.7394:0.0:0.2606:0.0	5.164	0.14403	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	740.98	33	chr3	41754410	.	A	G	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=830;ExcessHet=0.0000;FS=3.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=-2.000e-02;SOR=0.885	GT:AD:DP:GQ:PL	0/1:67,37:104:99:755,0,1480	20	0	1	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/4:22,2,0,0,13:37:99:463,456,1397,537,1370,1442,537,1370,1442,1442,0,791,874,874,826	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/4:22,2,0,0,13:37:99:463,456,1397,537,1370,1442,537,1370,1442,1442,0,791,874,874,826	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/4:22,2,0,0,13:37:99:463,456,1397,537,1370,1442,537,1370,1442,1442,0,791,874,874,826	1	3	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:40,31,0:80:99:1174,0,1541,1304,1648,3002	2	7	11	0
chr3	46992544	46992544	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_015175:exon10:c.G1102A:p.D368N,	Gray platelet syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	889154	Gray_platelet_syndrome	MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.049	B	0.004	B	.	.	1.000	D	1.04	L	0.32	T	-1.034	T	0.134	T	0.036	1.482	10.90	3.6	0.276	4.384	12.796	0.074	0.0137975516883	.	0.000199681	0.0001	0	0	0.0008	0	9.868e-05	0	0	8.41e-05	13	154602	rs528681375	5.464e-05	5.678e-05	4.944e-05	5.991e-05	0.0006	4.459e-05	4.127e-05	0.0004	0.0003	0	2.335e-05	3.887e-05	0.0006	0	0.0002	4.345e-05	5.016e-05	2.403e-05	6.567e-05	7.218e-05	7.71e-05	5.371e-05	0.0006	3.515e-05	2.615e-05	0.0002	8.391e-05	2.405e-05	0	0	0	0.0006	0	0	8.823e-05	0	0	0.148	0.24857	T	.	.	.	0.049	0.22227	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	1.15	0.29295	L	0.32	0.58468	T	-0.8	0.22078	N	0.3	0.33904	-1.0341	0.19141	T	0.134	0.44817	T	9	0.03793022	0.02177	T	0.013798	0.33474	T	0.074	0.21613	.	.	0.176862962021	0.17281	0.10978074502563381	0.10907	0.186497304341	0.20959	0.475858330727	0.35488	T	0.020154	0.15918	T	-0.488667	0.00661	T	-0.560218	0.16355	T	0.0202177542157609	0.00721	T	0.714629	0.32694	T	0.07238068	0.16097	0.08391725	0.19266	0.07238068	0.16097	0.08391725	0.19266	-4.688	0.33258	T	.	.	0.089	0.12323	B	.	.	3.346388	0.46131	22.2	0.93497196533824334	0.23302	0.86192	0.45426	D	AEFBCI	0.344743	0.44013	N	-0.507321752872032	0.21843	1.162146	-0.33905730757233	0.26849	1.485772	0.999971167611489	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.41	3.6	0.40374	4.490000	0.60041	8.442000	0.77197	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1524:0.0:0.8476:0.0	12.796	0.56938	28	0.98252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1076.98	44	chr3	46992544	.	G	A	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.154;DP=867;ExcessHet=0.0000;FS=0.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.96;ReadPosRankSum=0.152;SOR=0.510	GT:AD:DP:GQ:PL	0/1:26,46:72:99:1091,0,495	20	0	1	0
chr3	47248053	47248053	G	T	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon10:c.C868A:p.L290I	.	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.884	P	0.376	B	0.008	N	0.943	N	1.39	L	-0.7	T	-0.910	T	0.184	T	0.318	2.663	14.86	0.137	0.357	0.411	4.905	0.056	0.0216825233634	.	0.000998403	0.0003	0.0003	0	0	0	3.002e-05	0	0.0017	0.0002458	38	154602	rs529971026	0.0001	0.0001	6.263e-05	0.0001	0.0011	9.116e-05	8.646e-05	0.0009	0.0009	0.0001	0	0	0	0	0.0002	4.227e-05	6.624e-05	0.0011	0.0001	0.0001	0.0001	0.0002	0.0023	9.154e-05	7.708e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0	2.941e-05	0	0.0023	0.408	0.10730	T	0.414	0.14369	T	0.097	0.48618	B	0.054	0.43735	B	0.007954	0.31104	N	0.215214	0.999901	0.22206	N	2.39	0.68882	M	-0.7	0.72785	T	-0.33	0.13035	N	0.394	0.43610	-0.9099	0.46867	T	0.184	0.53300	T	10	0.014291495	0.00301	T	0.021683	0.44481	T	0.056	0.15993	.	.	0.723681508034	0.72124	0.16284111919620786	0.16204	0.384670636365	0.39763	0.527569651604	0.42692	T	0.025285	0.18938	T	-0.363713	0.03924	T	-0.340777	0.40257	T	0.0498113212497627	0.05467	T	0.878012	0.59262	D	0.043945458	0.06937	0.035586335	0.02838	0.043945458	0.06937	0.035586335	0.02838	-6.957	0.54085	T	.	.	0.085	0.10014	B	.;.;.;.	.;.;.;.	2.001740	0.25432	16.76	0.98718156432374837	0.45157	0.15799	0.19087	N	AEFDI	0.120524	0.23475	N	-0.433315313138122	0.24309	1.311671	-0.427028778055204	0.24207	1.324339	0.958134907069466	0.28345	0.615465	0.37627	0	0.588066	0.40923	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.93	0.137	0.14085	0.516000	0.22523	1.578000	0.27457	0.618000	0.50648	0.209000	0.24412	0.879000	0.27682	0.996000	0.76049	0.3455:0.1537:0.5008:0.0	4.905	0.13147	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	901.98	33	chr3	47248053	.	G	T	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=798;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.246;SOR=0.968	GT:AD:DP:GQ:PL	0/1:44,39:83:99:916,0,991	20	0	1	0
chr3	47910712	47910712	C	G	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.G3640C:p.E1214Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	N	.	.	2.59	T	-1.053	T	0.048	T	0.038	2.059	12.84	4.24	1.349	1.568	12.668	0.039	0.0128529258903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.769e-05	0.0009	6.039e-05	7.517e-05	0.0002	5.633e-05	5.225e-05	6.57e-05	6.053e-05	0	0	3.979e-05	0	0	0.0002	7.944e-05	8.687e-05	1.266e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.31597	N	.	.	.	2.59	0.13317	T	-0.35	0.12847	N	0.167	0.17691	-1.0527	0.13655	T	0.048	0.20355	T	5	0.09787628	0.17658	T	0.012853	0.31779	T	0.039	0.10176	0.211	0.12923	0.19168177325	0.18762	.	.	.	.	.	.	.	0.022675	0.17443	T	-0.326119	0.06410	T	-0.706224	0.05492	T	0.305331349372864	0.25223	T	0.729327	0.34443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.	.	2.347421	0.30093	18.33	0.98505090803648987	0.42264	0.24800	0.22505	N	AEFGBCI	.	.	.	-0.124211931171064	0.36340	2.099225	-0.149403042939749	0.33432	1.912276	0.999999966076043	0.74766	0.421363	0.06395	0	0.546412	0.12157	0	0.536957	0.11973	0	0.466023	0.07079	0	.	.	5.13	4.24	0.49486	0.771000	0.26294	2.677000	0.33989	0.599000	0.40250	0.001000	0.13787	0.986000	0.30841	0.956000	0.50813	0.0:0.8339:0.1661:0.0	12.668	0.56215	8	0.99202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	176.26	123	chr3	47910712	.	C	G	176.26	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-5.915e+00;DP=2381;ExcessHet=0.1072;FS=208.328;InbreedingCoeff=-0.1454;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=0.74;ReadPosRankSum=-5.470e-01;SOR=9.490	GT:AD:DP:GQ:PL	0/1:74,21:95:12:12,0,1453	13	0	2	6
chr3	48587045	48587045	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon25:c.G3203A:p.R1068H,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	1025344	Epidermolysis_bullosa_pruriginosa|Nonsyndromic_congenital_nail_disorder_8|Recessive_dystrophic_epidermolysis_bullosa|Pretibial_dystrophic_epidermolysis_bullosa|Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin|Transient_bullous_dermolysis_of_the_newborn|Generalized_dominant_dystrophic_epidermolysis_bullosa|Epidermolysis_bullosa_dystrophica|not_provided	MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600,Orphanet:79408,Orphanet:79409|Human_Phenotype_Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850,Orphanet:79410|MONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000|MONDO:MONDO:0007548,MedGen:C1851573,OMIM:131705,Orphanet:79411|MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750,Orphanet:231568|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.039	B	0.015	B	0.166	N	1.000	N	0.345	N	-1.26	T	-0.894	T	0.222	T	0.376	-0.091	3.553	3.78	1.478	0.149	9.416	0.159	0.0438396188647	.	.	4.072e-05	0	0	0	0	4.934e-05	0	8.559e-05	1.94e-05	3	154602	rs753761607	3.09e-05	3.078e-05	1.911e-05	4.282e-05	0.0005	2.356e-05	2.103e-05	0.0001	7.546e-05	0	0	0	2.527e-05	0	0.0005	2.974e-05	8.308e-05	3.525e-05	3.943e-05	3.94e-05	3.854e-05	4.035e-05	7.243e-05	1.715e-05	1.129e-05	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	4.409e-05	0	0	0.262	0.16466	T	0.178	0.29639	T	0.039	0.21116	B	0.015	0.17295	B	0.166465	0.17504	N	0.473189	1	0.08975	N	1.79	0.46772	L	-1.26	0.79176	T	0.05	0.06369	N	0.364	0.40565	-0.8936	0.48614	T	0.222	0.58537	T	10	0.14475682	0.27467	T	0.04384	0.61186	D	0.159	0.41286	0.422	0.46529	0.801463742305	0.79960	0.1513218141200641	0.15054	0.308530585448	0.33167	0.433639913797	0.29706	T	0.220102	0.58329	T	-0.097063	0.36911	T	-0.26471	0.48352	T	0.137529298663139	0.16060	T	0.807119	0.45664	T	0.04785609	0.08248	0.045483217	0.06130	0.04785609	0.08247	0.045483217	0.06129	-3.823	0.21149	T	0.09321713767617702	0.06108	0.096	0.15520	B	.	.	2.676728	0.34910	19.76	0.80287741501779075	0.13132	0.07100	0.13125	N	AEFGBCI	0.064985	0.12650	N	-0.718379452365711	0.15506	0.7819984	-0.647557305567085	0.18278	0.9757433	0.983963802125778	0.30642	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.91	3.78	0.42629	0.979000	0.29098	2.595000	0.33490	0.599000	0.40250	0.039000	0.20931	0.994000	0.32194	0.659000	0.32940	0.0:0.7253:0.0:0.2747	9.416	0.37686	11	0.98996	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	34	chr3	48587045	.	C	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.633;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-6.240e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1461,0,1407	20	0	1	0
chr3	49276802	49276802	A	G	exonic	C3orf62	.	nonsynonymous SNV	C3orf62:NM_198562:exon1:c.T71C:p.L24P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	N	1.000	D	1.04	L	-0.05	T	-0.469	T	0.297	T	0.964	3.862	19.62	4.79	2.002	4.818	10.638	0.574	0.0976643426568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001234	0.39743	N	0.000000	1	0.81001	D	0.695	0.17993	N	-0.05	0.63568	T	-5.92	0.90771	D	0.932	0.93723	-0.4689	0.69763	T	0.297	0.66801	T	10	0.7312801	0.74315	D	0.097664	0.76812	D	0.574	0.82742	0.513	0.61153	0.892291546352	0.89122	0.4564402211925589	0.45562	0.469151182485	0.46230	.	.	.	0.068569	0.42449	T	0.407582	0.90347	D	0.347687	0.90227	D	0.998931109905243	0.95630	D	0.670533	0.27914	T	0.9587947	0.97158	0.9549144	0.98689	0.9587947	0.97159	0.9549144	0.98689	-4.808	0.34685	T	.	.	0.995	0.97238	P	.;.	.;.	4.864225	0.79626	27.1	0.99891001499352317	0.96513	0.70662	0.34683	D	ALL	0.755165	0.69481	D	0.538289608295087	0.69370	5.347536	0.532664595835686	0.70202	5.470455	0.999999999272118	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	4.79	4.79	0.60909	4.803000	0.62240	10.694000	0.83582	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	1.0:0.0:0.0:0.0	10.638	0.44765	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	810.98	40	chr3	49276802	.	A	G	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.933;SOR=0.703	GT:AD:DP:GQ:PL	0/1:49,39:88:99:825,0,1199	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,68,0:68:99:3061,205,0,3061,205,3061	0	4	6	0
chr3	49859623	49859623	T	G	exonic	CAMKV	.	nonsynonymous SNV	CAMKV:NM_024046:exon11:c.A1201C:p.S401R	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.86	P	0.477	P	0.000	D	1.000	N	0.895	L	1.61	T	-0.519	T	0.262	T	0.147	2.088	12.94	5.44	2.288	0.423	13.502	0.083	0.195030138047	.	0.00179712	0.0005	0.0002	0	0	0	9.001e-05	0	0.0035	0.0004786	74	154602	rs556114266	0.0003	0.0003	0.0002	0.0004	0.0030	0.0003	0.0002	0.0027	0.0026	0.0001	6.708e-05	0	0	0	0.0007	0.0001	0.0002	0.0030	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0015	0.0002	0	0	0	0	0	0	7.355e-05	0.0005	0.0031	0.025	0.61437	D	0.436	0.30534	T	0.005	0.40793	B	0.008	0.37471	B	0.000130	0.49741	D	0.000000	0.999882	0.50402	D	0.695	0.17993	N	0.31	0.70249	T	-0.36	0.25118	N	0.296	0.57348	-0.5193	0.67940	T	0.262	0.63264	T	10	0.003497064	0.00062	T	0.19503	0.86397	D	0.083	0.24192	0.178	0.08503	0.433638433634	0.42984	0.457790195700997	0.45697	1.94467123622	0.93298	0.611474514008	0.54524	T	0.068587	0.33494	T	-0.412861	0.01903	T	-0.370438	0.36839	T	0.0374692510630961	0.03239	T	0.747925	0.64678	T	0.13003315	0.30352	0.14038916	0.33465	0.13003315	0.30352	0.14038916	0.33464	-7.079	0.56323	T	.	.	0.378	0.71803	A	.;.;.;.;.;.	.;.;.;.;.;.	4.260774	0.64748	24.7	0.9940618972716414	0.63028	0.18565	0.20312	N	AEFBI	0.111291	0.22039	N	-0.238221747166234	0.31576	1.771949	-0.13443297127721	0.34013	1.951815	0.997067847898917	0.35242	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	2.515000	0.45172	6.127000	0.53864	0.665000	0.62972	0.148000	0.23625	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.502	0.60917	1	0.99630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2039.98	38	chr3	49859623	.	T	G	2039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.656;DP=901;ExcessHet=0.0000;FS=0.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=1.07;SOR=0.651	GT:AD:DP:GQ:PL	0/1:92,94:186:99:2054,0,2106	20	0	1	0
chr3	51980891	51980891	T	G	exonic	ABHD14A	.	nonsynonymous SNV	ABHD14A:NM_015407:exon5:c.T689G:p.L230R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.997	D	0.967	D	0.001	N	1.000	D	2.305	M	1.86	T	-0.920	T	0.154	T	0.619	1.665	11.53	5.41	2.056	4.048	13.687	0.099	0.120629486262	0.0033	0.00159744	0.0022	0.0006	0.0028	0	0.0006	0.0033	0	0.0001	0.0021863	338	154602	rs34149506	0.0036	0.0036	0.0038	0.0035	0.0043	0.0036	0.0035	0.0042	0.0042	0.0007	0.0036	0.0039	0	0.0004	0.0012	0.0043	0.0035	0.0001	0.0026	0.0026	0.0030	0.0023	0.0041	0.0024	0.0023	0.0037	0.0036	0.0012	0	0.0033	0.0040	0	0.0003	0	0.0041	0.0033	0	0.084	0.32929	T	0.1	0.39492	T	0.997	0.70673	D	0.967	0.71530	D	0.001295	0.39521	N	0.174780	1	0.81001	D	1.325	0.33218	L	1.86	0.24285	T	-4.4	0.77308	D	0.627	0.76111	-0.9201	0.45540	T	0.154	0.48412	T	10	0.007946104	0.00180	T	0.120629	0.80121	D	0.331	0.65325	.	.	0.413503789086	0.40968	0.7961541521886043	0.79568	0.801848852689	0.66287	0.462418675423	0.33642	T	0.053913	0.29577	T	-0.47582	0.00783	T	-0.453924	0.27263	T	0.0311500292964689	0.02170	T	0.768923	0.39853	T	0.44093218	0.63462	0.45287392	0.68176	0.44093218	0.63463	0.45287392	0.68177	-8.499	0.64423	D	.	.	0.183	0.39664	B	.;.	.;.	4.123282	0.61646	24.4	0.83215713755770793	0.14604	0.97525	0.75317	D	AEFBI	0.852827	0.76975	D	0.585638061304109	0.72278	5.780577	0.55264155527804	0.71581	5.676735	0.999999685462327	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	4.061000	0.57199	7.834000	0.70237	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.0:1.0	13.687	0.61999	173	0.93306	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1007.98	36	chr3	51980891	.	T	G	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=813;ExcessHet=0.0000;FS=2.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=0.076;SOR=0.763	GT:AD:DP:GQ:PL	0/1:58,48:106:99:1022,0,1379	20	0	1	0
chr3	52487938	52487938	A	G	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon16:c.A2446G:p.M816V,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.015	B	0.005	B	0.035	N	1.000	N	-0.205	N	3.3	T	-0.927	T	0.008	T	0.249	1.312	10.30	0.878	0.317	1.349	7.692	0.038	0.00688532994246	.	0.000199681	1.685e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs543513978	6.85e-06	6.84e-06	2.727e-06	1.102e-05	0.0001	3.46e-06	2.53e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	8.993e-07	0	0.0001	1.316e-05	1.313e-05	1.287e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	7.324e-05	3.041e-05	0	0	0	0	0	0	0	0	0	0.0004	0.469	0.08508	T	0.253	0.23501	T	0.015	0.17086	B	0.005	0.11217	B	0.034701	0.24738	N	0.474446	0.975664	0.25420	N	-0.345	0.03330	N	3.3	0.06368	T	-0.63	0.18459	N	0.223	0.25253	-0.9275	0.44502	T	0.008	0.02801	T	10	0.04497215	0.03514	T	0.006885	0.18205	T	0.038	0.09825	0.187	0.09646	0.200294437569	0.19612	0.3756205951108476	0.37476	0.433384082707	0.43495	0.47547775507	0.35434	T	0.069419	0.33706	T	-0.376412	0.03282	T	-0.574867	0.15006	T	0.0269995156949302	0.01544	T	0.644736	0.25622	T	0.03171753	0.03062	0.056754854	0.10197	0.03171753	0.03062	0.056754854	0.10197	-1.879	0.02755	T	.	.	0.081	0.09868	B	.;.	.;.	1.295172	0.16964	12.87	0.94284897018725011	0.24582	0.77515	0.38121	D	AEFDBCI	0.182554	0.30988	N	-0.587683497738792	0.19317	1.010083	-0.41274194299052	0.24623	1.349381	0.235619066850328	0.18515	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.04	0.878	0.18285	1.641000	0.36812	0.594000	0.19852	0.756000	0.94297	1.000000	0.71638	0.863000	0.27509	0.921000	0.45669	0.6681:0.26:0.0719:0.0	7.692	0.27739	75	0.96833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	984.98	75	chr3	52487938	.	A	G	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.889e+00;DP=1123;ExcessHet=0.0000;FS=6.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=1.17;SOR=0.773	GT:AD:DP:GQ:PL	0/1:49,50:99:99:999,0,1141	20	0	1	0
chr3	64649715	64649715	T	G	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon9:c.A1443C:p.Q481H	.	.	.	.	.	.	.	.	.	.	.	2352939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.983	D	0.000	D	1.000	D	2.84	M	3.9	T	-1.160	T	0.042	T	0.405	3.052	16.18	0.767	0.139	0.203	10.868	0.175	0.028682327217	7.7e-05	.	9.074e-05	0	0.0004	0	0	9e-05	0	0	7.76e-05	12	154602	rs200739198	6.499e-05	6.498e-05	7.079e-05	5.913e-05	0.0004	5.428e-05	5.042e-05	0.0003	0.0002	2.987e-05	0.0004	0.0002	0	0	0.0002	6.115e-05	1.656e-05	0	0.0001	0.0001	0.0001	0.0001	0.0003	6.513e-05	5.324e-05	0.0001	8.291e-05	4.826e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.038	0.48186	D	0.066	0.44501	T	0.439	0.35873	B	0.105	0.31087	B	0.000008	0.62929	D	0.065847	0.999989	0.54805	D	2.98	0.85499	M	3.9	0.03516	T	-3.2	0.64710	D	0.712	0.71498	-1.1597	0.00763	T	0.042	0.17869	T	10	0.51364875	0.62241	D	0.028682	0.51317	D	0.175	0.44197	0.407	0.44066	0.525049811399	0.52150	0.8228237572267979	0.82239	0.659582380596	0.58814	0.578200221062	0.49833	T	0.523841	0.83397	D	-0.375631	0.03318	T	-0.461188	0.26469	T	0.503803849220276	0.32768	D	0.791221	0.44648	T	0.21842512	0.44350	0.20720683	0.44970	0.21842512	0.44349	0.20720683	0.44969	-7.571	0.59581	D	.	.	0.203	0.42806	B	.;.	.;.	2.082647	0.26487	17.14	0.99178141127117148	0.54585	0.87028	0.46447	D	AEFDBI	0.529619	0.55066	D	0.268740782375181	0.54572	3.622406	0.192825457827145	0.49452	3.148293	0.999952851907016	0.48110	0.489673	0.17934	0	0.573888	0.26702	0	0.573078	0.19857	0	0.662433	0.64102	0	.	.	5.9	0.767	0.17627	0.210000	0.17249	-0.074000	0.12261	-0.125000	0.13442	0.983000	0.35670	0.867000	0.27550	0.992000	0.67800	0.0:0.4481:0.0:0.5519	10.868	0.46073	871	0.31377	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1110.98	33	chr3	64649715	.	T	G	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.272;DP=803;ExcessHet=0.0000;FS=2.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=1.38;SOR=0.483	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1125,0,1248	20	0	1	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:232,31:263:99:.:.:109,0,8984	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:202,79:281:99:.:.:2583,0,8097	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,81:335:99:0|1:75736920_C_A:2637,0,10422:75736920	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,78:343:99:0|1:75736920_C_A:2457,0,10839:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:282,142:424:99:2711,0,6746	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:266,162:428:99:3589,0,7676	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:238,201:439:99:4085,0,8929	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,212:430:99:0|1:75737092_C_T:7869,0,8508:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,196:419:99:0|1:75737092_C_T:7559,0,8765:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,188:416:99:0|1:75737092_C_T:7208,0,9008:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,157:363:99:0|1:75737092_C_T:5972,0,8177:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,99:308:99:0|1:75737092_C_T:3528,0,8468:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,26:146:99:.:.:661,0,4831	10	0	11	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,157:290:99:.:.:6139,0,5011	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,161:327:99:0|1:75737590_A_G:6089,0,6446:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,152:318:99:0|1:75737590_A_G:5883,0,6513:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,142:307:99:0|1:75737590_A_G:5466,0,6501:75737590	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,153:316:99:0|1:75737590_A_G:5934,0,6384:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,171:324:99:0|1:75737590_A_G:6720,0,5910:75737590	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,62:249:99:0|1:75737814_C_T:1984,0,7146:75737814	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,24:193:99:0|1:75737881_T_C:360,0,6893:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,22:188:99:0|1:75737881_T_C:326,0,6877:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,22:187:99:0|1:75737881_T_C:329,0,6855:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,5:29:99:0|1:75737994_T_C:138,0,993:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:78:0|1:75737994_T_C:78,0,656:75737994	5	0	13	3
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:102,32:134:99:613,0,2745	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:121,77:198:99:1491,0,2796	0	0	21	0
chr3	97864497	97864497	G	C	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon3:c.G497C:p.G166A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.176	B	0.067	B	.	.	.	.	0.55	N	.	.	-1.021	T	0.060	T	0.033	2.454	14.17	-0.74	-0.080	-0.116	7.318	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.24987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	-1.0208	0.23454	T	0.060	0.25018	T	7	0.055968434	0.06201	T	.	.	.	.	.	0.303	0.27164	0.273938319068	0.27005	0.022292894865064933	0.02181	.	.	0.236989021301	0.02526	T	0.007286	0.06705	T	-0.3578	0.04256	T	-0.751731	0.03418	T	0.085074701965501	0.10623	T	0.439356	0.12115	T	0.03425154	0.03807	0.05392461	0.09175	0.03425154	0.03806	0.05392461	0.09175	-3.511	0.16586	T	.	.	0.106	0.19598	B	.	.	0.974818	0.13522	10.04	0.95084620413448162	0.26140	0.12024	0.17012	N	AEFBI	0.055106	0.10077	N	-1.08820943550069	0.06859	0.3169777	-1.11539344402348	0.07405	0.3601082	0.0786887617552347	0.15796	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.93	-0.74	0.10555	-0.069000	0.11501	-0.399000	0.09423	-0.227000	0.07798	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.4289:0.1226:0.4484:0.0	7.318	0.25687	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1359.98	33	chr3	97864497	.	G	C	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.998;DP=823;ExcessHet=0.0000;FS=3.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=0.334;SOR=0.595	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1374,0,1671	20	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	611.64	118	chr3	98133455	.	GACCCC	G	611.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-8.970e-01;DP=1898;ExcessHet=0.3300;FS=172.190;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.427;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,19:107:99:0|1:98133455_GACCCC_G:218,0,3259:98133455	18	0	3	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,19:107:99:0|1:98133455_GACCCC_G:218,476,3789,0,3313,3259:98133455	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,19:107:99:0|1:98133455_GACCCC_G:218,476,3789,0,3313,3259:98133455	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,19:107:99:0|1:98133455_GACCCC_G:218,476,3789,0,3313,3259:98133455	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,19:107:99:0|1:98133455_GACCCC_G:218,476,3789,0,3313,3259:98133455	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,19:107:99:0|1:98133455_GACCCC_G:218,476,3789,0,3313,3259:98133455	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,18,0,0,0:105:99:0|1:98133455_GACCCC_G:206,461,3731,0,3271,3220,461,3731,3271,3731,461,3731,3271,3731,3731,461,3731,3271,3731,3731,3731:98133455	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,18,0,0,0:105:99:0|1:98133455_GACCCC_G:206,461,3731,0,3271,3220,461,3731,3271,3731,461,3731,3271,3731,3731,461,3731,3271,3731,3731,3731:98133455	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,18,0,0,0:105:99:0|1:98133455_GACCCC_G:206,461,3731,0,3271,3220,461,3731,3271,3731,461,3731,3271,3731,3731,461,3731,3271,3731,3731,3731:98133455	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,18,0,0,0:105:99:0|1:98133455_GACCCC_G:206,461,3731,0,3271,3220,461,3731,3271,3731,461,3731,3271,3731,3731,461,3731,3271,3731,3731,3731:98133455	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,18,0,0,0:105:99:0|1:98133455_GACCCC_G:206,461,3731,0,3271,3220,461,3731,3271,3731,461,3731,3271,3731,3731,461,3731,3271,3731,3731,3731:98133455	0	0	5	10
chr3	98354008	98354008	A	C	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.A155C:p.E52A,	.	.	429	1084	8	1	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.403	B	0.371	B	0.006	U	1.000	N	1.61	L	5.31	T	-1.001	T	0.007	T	0.35	1.444	10.77	4.77	2.115	2.740	12.544	0.131	0.00140944196157	0.0005	0.000599042	0.0009	0.0002	0.0010	0	0	0.0013	0	0.0002	0.0008085	125	154602	rs78965394	0.0006	0.0006	0.0005	0.0006	0.0104	0.0005	0.0005	0.0083	0.0075	0.0002	0.0011	0.0035	0	0	0.0104	0.0005	0.0012	0.0002	0.0007	0.0008	0.0007	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0023	0.0029	0	0	0.0068	0.0007	0.0033	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.403	0.34918	B	0.371	0.43568	B	0.005811	0.32491	U	0.000000	0.999999	0.08975	N	1.36	0.34107	L	5.31	0.01086	T	-4.45	0.77717	D	0.265	0.30004	-1.0006	0.29746	T	0.007	0.02598	T	10	0.00875169	0.00198	T	0.001409	0.02088	T	0.131	0.35738	.	.	0.197625483188	0.19356	0.26452313262500454	0.26365	0.0122577980049	0.01168	0.243384540081	0.03103	T	0.010821	0.09727	T	-0.45709	0.01025	T	-0.496831	0.22677	T	0.0866761713187232	0.10819	T	0.445455	0.12454	T	0.3980649	0.60598	0.36761248	0.62067	0.3980649	0.60599	0.36761248	0.62067	-6.311	0.48809	T	.	.	0.402	0.59694	A	.	.	2.566532	0.33247	19.28	0.99068172431392332	0.51645	0.32527	0.24607	N	AEFI	0.158955	0.28468	N	-0.300306574426165	0.29137	1.613155	-0.372714881764971	0.25814	1.421915	0.698546500615225	0.22669	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	2.440000	0.44513	.	.	0.681000	0.82415	0.007000	0.17678	0.987000	0.30940	0.001000	0.02609	1.0:0.0:0.0:0.0	12.544	0.55536	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1106.98	33	chr3	98354008	.	A	C	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.023e+00;DP=819;ExcessHet=0.0000;FS=1.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=-7.130e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1121,0,1793	20	0	1	0
chr3	99848704	99848704	C	A	exonic	FILIP1L	.	nonsynonymous SNV	FILIP1L:NM_001282794:exon2:c.G2252T:p.G751V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.993	D	0.941	D	0.002	N	1.000	D	1.5	L	2.19	T	-1.059	T	0.117	T	0.616	3.005	16.02	5.3	1.631	6.091	15.376	0.221	0.0210205961072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.112	0.39954	T	0.943	0.65571	P	0.69	0.67658	P	0.001684	0.38271	N	0.116799	1	0.81001	D	2.455	0.71248	M	2.19	0.24285	T	-2.03	0.50502	N	0.383	0.46649	-1.0588	0.12058	T	0.117	0.41209	T	10	0.300	0.47512	T	0.021021	0.43722	T	0.221	0.51721	0.065	0.00293	0.494031935134	0.49039	0.30678518422876133	0.30591	0.359354229553	0.37631	0.511215090752	0.40392	T	0.040282	0.25476	T	-0.0197967	0.48883	T	-0.266213	0.48203	T	0.912601945525207	0.56857	D	0.884911	0.61727	D	0.17421028	0.38213	0.19982028	0.43883	0.17421028	0.38212	0.19982028	0.43882	-5.734	0.47574	T	.	.	0.139	0.30291	B	.;.;.;.;.;.	.;.;.;.;.;.	3.483187	0.48648	22.6	0.99350665158735429	0.60574	0.96390	0.68904	D	AEFBCI	0.859441	0.77712	D	0.538439385329591	0.69380	5.348819	0.576081475447912	0.73230	5.936443	0.999999999999946	0.74766	0.706548	0.73137	0	0.624146	0.53433	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	6.17	5.3	0.74745	6.171000	0.71829	5.999000	0.52457	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.934:0.0:0.066	15.376	0.74319	444	0.79803	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	34	chr3	99848704	.	C	A	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=801;ExcessHet=0.0000;FS=2.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.129;SOR=1.019	GT:AD:DP:GQ:PL	0/1:43,53:96:99:1388,0,943	20	0	1	0
chr3	108398765	108398765	G	A	exonic	MYH15	.	nonsynonymous SNV	MYH15:NM_014981:exon36:c.C5065T:p.R1689C,	.	.	426	1080	15	1	0	17	0.00780891	.	.	708449	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.989	D	.	.	1.000	N	3.205	M	-1.69	D	-0.105	T	0.612	D	0.38	3.087	16.31	-4.34	-0.890	-0.354	6.445	0.287	0.0175268796891	0.0071	0.00339457	0.0063	0.0019	0.0065	0.0002	0.0020	0.0091	0.0044	0.0022	0.0061254	947	154602	rs76478083	0.0079	0.0079	0.0080	0.0079	0.0111	0.0078	0.0078	0.0091	0.0090	0.0015	0.0083	0.0049	5.038e-05	0.0023	0.0111	0.0092	0.0071	0.0022	0.0063	0.0063	0.0063	0.0064	0.0123	0.0060	0.0059	0.0109	0.0103	0.0015	0.0011	0.0123	0.0066	0.0002	0.0027	0.0238	0.0091	0.0099	0.0031	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	0.999966	0.18878	N	3.365	0.91266	M	-1.69	0.82985	D	-6.36	0.91017	D	0.386	0.42737	-0.1052	0.79980	T	0.612	0.86283	D	9	0.016058832	0.00338	T	0.017527	0.39265	T	0.287	0.60574	.	.	0.866806358766	0.86551	0.36932150361077903	0.36846	0.488437407927	0.47645	0.200001746416	0.00457	T	0.632279	0.88618	D	-0.294874	0.09152	T	-0.188951	0.55689	T	0.0747861343621406	0.09306	T	0.952305	0.81786	D	0.30293593	0.53166	0.19586208	0.43285	0.30293593	0.53166	0.19586208	0.43284	-9.033	0.67910	D	.	.	0.096	0.15296	B	.	.	2.368197	0.30382	18.42	0.99748892985188742	0.84077	0.09315	0.15096	N	AEFBI	0.212162	0.33787	N	-0.262901672864685	0.30592	1.707208	-0.60984305547541	0.19240	1.031403	0.0050881057772144	0.10822	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.5	-4.34	0.03412	-0.170000	0.09886	-1.862000	0.04593	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.245:0.0:0.2714:0.4836	6.445	0.21075	321	0.86949	Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2604.08	33	chr3	108398765	.	G	A	2604.08	.	AC=2;AF=0.048;AN=42;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.41;SOR=0.848	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2632,285,0	20	1	0	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/3:0,61,0,8,0,0:69:99:2712,299,110,2742,329,2924,2404,0,2625,2785,2742,329,2924,2625,2924,2742,329,2924,2625,2924,2924	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/3:0,61,0,8,0,0:69:99:2712,299,110,2742,329,2924,2404,0,2625,2785,2742,329,2924,2625,2924,2742,329,2924,2625,2924,2924	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/3:0,61,0,8,0,0:69:99:2712,299,110,2742,329,2924,2404,0,2625,2785,2742,329,2924,2625,2924,2742,329,2924,2625,2924,2924	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/3:0,61,0,8,0,0:69:99:2712,299,110,2742,329,2924,2404,0,2625,2785,2742,329,2924,2625,2924,2742,329,2924,2625,2924,2924	0	4	0	0
chr3	123647309	123647309	T	C	exonic	MYLK	.	nonsynonymous SNV	MYLK:NM_001321309:exon26:c.A4006G:p.I1336V	Aortic aneurysm, familial thoracic 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1460591	Aortic_aneurysm,_familial_thoracic_7|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.597	P	0.269	B	.	.	1.000	D	1.02	L	-0.18	T	-0.754	T	0.186	T	0.362	2.879	15.59	5.38	2.023	6.163	15.396	0.160	0.0161493689211	.	.	1.648e-05	0	8.643e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs756490769	4.104e-06	4.104e-06	6.806e-06	1.375e-06	0.0002	1.48e-06	9.7e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0.0002	2.698e-06	0	0	6.568e-06	6.567e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.004	0.68238	D	0.18	0.30339	T	0.196	0.39250	B	0.063	0.39840	B	.	.	.	.	0.999728	0.48557	D	0.555	0.15161	N	-0.18	0.65747	T	-0.79	0.22508	N	0.478	0.51851	-0.7541	0.57721	T	0.186	0.53631	T	9	0.31451458	0.48892	T	0.016149	0.37263	T	0.160	0.41473	0.669	0.80703	0.869021244668	0.86774	0.4495913349125772	0.44877	1.1300589259	0.78586	0.661642611027	0.61645	T	0.207764	0.56750	T	-0.128888	0.31676	T	-0.247068	0.50106	T	0.619846820831299	0.37200	D	0.806319	0.66280	T	0.28581187	0.51601	0.20253073	0.44286	0.28581187	0.51600	0.20253073	0.44285	-5.671	0.53343	T	0.5186741495085	0.59130	0.228	0.46596	B	.;.;.;.;.;.	.;.;.;.;.;.	3.770609	0.54161	23.5	0.99695888931622878	0.80248	0.96518	0.69540	D	AEFBI	0.852350	0.76925	D	0.158031019137023	0.49191	3.12243	0.308391460364746	0.56030	3.766117	0.99999999056206	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.38	5.38	0.77279	6.142000	0.71508	7.800000	0.69123	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.396	0.74514	551	0.72115	.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain|Myosin Light Chain Kinase 1, Kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain|Myosin Light Chain Kinase 1, Kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1311.98	34	chr3	123647309	.	T	C	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.039e+00;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=-5.990e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/1:66,68:134:99:1326,0,1438	20	0	1	0
chr3	130397612	130397612	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon9:c.G3598A:p.D1200N	.	.	416	1096	10	0	0	10	0.00454133	.	.	2434131	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	.	.	0.975	D	2.125	M	-0.63	T	0.115	D	0.528	D	0.188	3.023	16.08	5.25	2.439	4.881	17.625	0.344	0.0253041525398	.	.	0.0004	0	0	0	0	0.0006	0	0.0003	7.12e-05	11	154602	rs756549440	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0025	0	0.0004	3.985e-05	5.597e-05	0	0.0043	0.0002	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	4.833e-05	0	0.0007	0	0	0	0	0.0004	0.0005	0.0004	0.008	0.58626	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.974656	0.39123	D	.	.	.	-0.63	0.72011	T	-4.38	0.77143	D	0.308	0.34767	0.115	0.84440	D	0.528	0.82468	D	9	0.26076612	0.43529	T	0.025304	0.48284	D	0.344	0.66582	.	.	0.575545942349	0.57224	0.12056601265177987	0.11983	0.085913155872	0.09707	0.522419929504	0.41967	T	0.338649	0.70789	T	-0.317562	0.07100	T	-0.339898	0.40355	T	0.160137083676557	0.17882	T	0.914909	0.69682	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.62276	A	.	.	3.444845	0.47939	22.5	0.99696422554642572	0.80316	0.95215	0.63864	D	AEFI	0.708356	0.66279	D	0.592435550281159	0.72701	5.847416	0.523854329330069	0.69600	5.38345	0.999999989657726	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.037000	0.63964	7.550000	0.60255	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	17.625	0.87994	376	0.83959	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1082.98	33	chr3	130397612	.	G	A	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=785;ExcessHet=0.0000;FS=4.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.479;SOR=1.002	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1097,0,1218	20	0	1	0
chr3	171014539	171014539	C	T	exonic	SLC2A2	.	nonsynonymous SNV	SLC2A2:NM_000340:exon3:c.G301A:p.V101I,	Fanconi-Bickel syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	251005	Monogenic_diabetes|not_specified|Fanconi-Bickel_syndrome|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	3.375	M	-1.15	T	0.344	D	0.580	D	0.548	5.585	35	6.08	2.894	7.369	20.274	0.464	.	0.0002	0.00319489	0.0014	0	0.0008	0.0148	0	0.0004	0.0011	0.0005	0.0013195	204	154602	rs1800572	0.0009	0.0009	0.0009	0.0009	0.0236	0.0009	0.0009	0.0223	0.0218	0	0.0010	0.0059	0.0236	7.488e-05	0.0007	6.655e-05	0.0012	0.0005	0.0009	0.0009	0.0009	0.0008	0.0158	0.0007	0.0007	0.0130	0.0120	0	0	0.0009	0.0063	0.0158	0	0	8.82e-05	0.0019	0.0006	0.001	0.78490	D	0.035	0.52389	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-1.15	0.77964	T	-0.89	0.24026	N	0.545	0.57177	0.344	0.88250	D	0.580	0.84867	D	10	0.01395154	0.00294	T	.	.	.	0.464	0.76023	.	.	0.921795024414	0.92100	0.7767031994767668	0.77620	0.564363956281	0.52821	0.548998773098	0.45716	T	0.414483	0.76802	T	-0.213721	0.18859	T	-0.0680951	0.65762	T	0.0910943406524676	0.11347	T	0.971803	0.89778	D	0.68906474	0.77461	0.7248556	0.83749	0.79933816	0.83864	0.8225538	0.89703	-11.285	0.81198	D	0.6984168083227051	0.77706	0.150	0.33063	B	.	.	4.771730	0.77247	26.7	0.99845895340126201	0.92576	0.96802	0.71018	D	AEFBHCI	0.954597	0.97181	D	1.02276450458692	0.96401	14.65175	0.977051219509457	0.98132	17.50214	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	7.538000	0.80960	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.274	0.98485	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1729.98	38	chr3	171014539	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.893e+00;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.192e+00;SOR=0.686	GT:AD:DP:GQ:PL	0/1:63,81:144:99:1744,0,1368	20	0	1	0
chr3	171644995	171644995	C	T	exonic	PLD1	.	nonsynonymous SNV	PLD1:NM_001130081:exon21:c.G2344A:p.V782M	.	.	431	1084	7	0	0	7	0.00321839	.	.	1249448	PLD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.984	D	0.000	D	1.000	D	2.635	M	1.73	T	-1.020	T	0.049	T	0.842	2.976	15.92	5.72	2.717	4.608	12.052	0.207	.	0.0010	0.0145767	0.0161	0.0012	0.1347	0.0355	0	0.0006	0.0066	0.0017	0.014657	2266	154602	rs2287579	0.0051	0.0051	0.0057	0.0045	0.1137	0.0050	0.0050	0.1111	0.1100	0.0007	0.1137	0.0025	0.0397	0	0.0014	0.0003	0.0039	0.0018	0.0076	0.0075	0.0062	0.0090	0.0576	0.0072	0.0070	0.0544	0.0532	0.0007	0	0.0576	0.0029	0.0351	0	0.0034	0.0004	0.0043	0.0019	0.001	0.78490	D	0.067	0.76473	T	0.999	0.77913	D	0.984	0.76113	D	0.000024	0.55875	D	0.121075	0.999999	0.81001	D	2.735	0.79925	M	1.73	0.26445	T	-2.01	0.48354	N	0.39	0.43126	-1.0198	0.23780	T	0.049	0.20868	T	10	0.003019631	0.00049	T	.	.	.	0.207	0.49555	.	.	.	.	0.8767826776250683	0.87645	0.401222737018	0.41108	0.589160323143	0.51375	T	0.097496	0.40037	T	-0.227545	0.16976	T	0.00749337	0.70820	D	0.0473070720988677	0.05019	T	0.962704	0.86103	D	0.6387032	0.74762	0.47847182	0.69789	0.6180685	0.73661	0.47847182	0.69790	-5.737	0.44022	T	0.5171357077631028	0.58998	0.35	0.66168	A	.;.	.;.	4.136035	0.61934	24.4	0.99855161698190731	0.93368	0.92408	0.55643	D	AEFDBI	0.564673	0.57137	D	0.638965671318064	0.75658	6.344784	0.572680239577176	0.72987	5.897474	0.999999999852445	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.72	5.72	0.89380	4.996000	0.63655	4.816000	0.45080	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.319000	0.24947	0.0:0.9206:0.0:0.0794	12.052	0.52808	949	0.11373	.;Phospholipase D-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	859.98	33	chr3	171644995	.	C	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-4.850e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/1:46,39:85:99:874,0,959	20	0	1	0
chr3	172341158	172341158	C	T	exonic	FNDC3B	.	nonsynonymous SNV	FNDC3B:NM_001135095:exon17:c.C1898T:p.T633I	.	.	434	1087	1	0	0	1	0.00045977	.	.	2731592	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.014	B	0.001	N	0.999	D	1.635	L	0.15	T	-0.918	T	0.158	T	0.461	0.327	5.770	3.68	1.124	2.703	11.180	0.158	0.0160633689192	0.0004	.	0.0001	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs145680877	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	8.944e-05	0	0	0	0	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.241e-05	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0003	0	0	0.171	0.22746	T	0.179	0.29540	T	0.001	0.07471	B	0.014	0.16862	B	0.001110	0.40219	N	0.308632	0.689119	0.33309	D	1.8	0.47472	L	0.15	0.60734	T	0.64	0.02368	N	0.665	0.68777	-0.9183	0.45783	T	0.158	0.49145	T	10	0.40743524	0.55990	T	0.016063	0.37127	T	0.158	0.41098	.	.	0.612009523599	0.60888	0.2363999260440365	0.23554	0.298929906386	0.32271	0.398632824421	0.24878	T	0.071735	0.34281	T	-0.26947	0.11815	T	-0.327292	0.41769	T	0.0803468301892281	0.10031	T	0.79532	0.43818	T	0.038448144	0.05124	0.05298204	0.08836	0.038448144	0.05124	0.05298204	0.08836	-6.351	0.49125	T	.	.	0.171	0.37577	B	.;.;.	.;.;.	1.911625	0.24279	16.34	0.89302401820733535	0.18681	0.87086	0.46521	D	AEFGBI	0.170829	0.29776	N	-0.417151524497013	0.24867	1.345824	-0.37133620137722	0.25855	1.424492	0.99940403625193	0.39524	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.88	3.68	0.41359	2.174000	0.42109	4.092000	0.41811	0.599000	0.40250	0.960000	0.33603	0.999000	0.35428	0.016000	0.10718	0.0:0.824:0.0:0.176	11.180	0.47847	860	0.33753	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	843.98	34	chr3	172341158	.	C	T	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=780;ExcessHet=0.0000;FS=1.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.903;SOR=0.984	GT:AD:DP:GQ:PL	0/1:46,37:83:99:858,0,1063	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.899	P	0.395	B	.	.	1.000	D	0	N	2.26	T	-1.014	T	0.024	T	0.203	2.513	14.36	4.35	1.922	2.333	11.973	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	0.07143	2702.68	37	chr3	179240022	.	T	C	2702.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.814;DP=872;ExcessHet=0.3300;FS=3.961;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.38;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.251;SOR=0.482	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1051,0,999	18	0	3	0
chr3	179250934	179250934	C	T	exonic	KCNMB3	.	startloss	KCNMB3:NM_171829:exon2:c.G3A:p.M1?,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	D	.	.	3.05	T	-1.100	T	0.025	T	.	2.963	15.88	5.2	1.582	2.667	13.467	0.169	0.0311850595628	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs200675679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	3.05	0.08721	T	-0.57	0.17210	N	0.362	0.40364	-1.0996	0.04140	T	0.025	0.10866	T	8	0.8110125	0.80385	D	0.031185	0.53330	D	0.169	0.43123	0.966	0.99667	0.551838628669	0.54841	.	.	.	.	.	.	.	.	.	.	-0.0993981	0.36525	T	-0.380555	0.35657	T	0.538355231285095	0.34043	D	.	.	.	.	.	.	.	.	.	.	.	-7.494	0.57568	T	.	.	.	.	.	.	.	1.871266	0.23769	16.14	0.99443555653142057	0.64921	0.82262	0.41516	D	AEFDBCI	0.271555	0.38738	N	0.384827699892244	0.60598	4.250638	0.395840345935359	0.61309	4.329117	0.999999939280448	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	6.07	5.2	0.71720	2.384000	0.44017	2.097000	0.30581	0.599000	0.40250	0.998000	0.41325	0.994000	0.32194	0.948000	0.49324	0.0:0.9244:0.0:0.0756	13.467	0.60713	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	38	chr3	179250934	.	C	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=-1.514e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:53,35:88:99:819,0,1291	20	0	1	0
chr3	184038270	184038270	C	T	exonic	HTR3D	.	stopgain	HTR3D:NM_182537:exon4:c.C391T:p.R131X	.	.	415	1103	3	1	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	1.634	11.42	-3.69	-0.626	-0.261	0.144	.	.	.	0.000199681	6.596e-05	0	0	0	0	0.0001	0	6.063e-05	6.47e-05	10	154602	rs187259526	7.115e-05	7.114e-05	6.943e-05	7.289e-05	0.0003	5.981e-05	5.589e-05	7.136e-05	6.627e-05	2.987e-05	2.236e-05	0	0	0	0.0003	8.544e-05	6.624e-05	1.159e-05	5.255e-05	5.25e-05	5.14e-05	5.374e-05	0.0001	2.556e-05	1.83e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.565067	0.00237	T	-0.844905	0.01028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.606353	0.95474	35	0.90526566090908256	0.19783	0.06071	0.12043	N	AEFDBCI	0.044392	0.07137	N	-1.10758490258489	0.06507	0.2997444	-1.31684360719839	0.04212	0.1982077	0.205389087088299	0.18174	0.603402	0.35316	0	0.59043	0.45803	0	0.547309	0.15389	0	0.663205	0.64265	0	.	.	3.52	-3.69	0.04162	-0.194000	0.09559	-2.442000	0.03749	-2.974000	0.00147	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3019:0.2414:0.1491:0.3076	0.144	0.00080	238	0.90711	Neurotransmitter-gated ion-channel transmembrane domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	811.98	58	chr3	184038270	.	C	T	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.705;DP=1246;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.92;ReadPosRankSum=0.126;SOR=0.579	GT:AD:DP:GQ:PL	0/1:20,31:51:99:826,0,419	20	0	1	0
chr3	190855735	190855735	C	T	exonic	GMNC	.	nonsynonymous SNV	GMNC:NM_001146686:exon5:c.G565A:p.V189I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.045	M	.	.	-0.154	T	0.438	T	0.327	4.613	25.2	5.72	2.716	4.428	18.882	0.140	0.0105144432234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.147e-07	6.84e-07	0	1.449e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.84330	D	0.000000	0.999935	0.51612	D	2.565	0.75005	M	.	.	.	-0.41	0.14000	N	0.193	0.21188	-0.1542	0.78813	T	0.438	0.77733	T	9	0.35496604	0.52269	T	0.010514	0.27131	T	0.140	0.37593	0.275	0.22687	0.149567049428	0.14543	0.3138135346298689	0.31294	.	.	0.434287399054	0.29796	T	0.02556	0.19086	T	0.00817127	0.52774	T	-0.226039	0.52155	T	0.942868947982788	0.61747	D	0.831417	0.49863	T	0.38119924	0.59403	0.3582548	0.61305	0.38119924	0.59403	0.3582548	0.61304	-4.565	0.31729	T	.	.	0.147	0.32420	B	.	.	3.331981	0.45876	22.2	0.99851449352055133	0.93102	0.96632	0.70119	D	AEFDBI	0.630061	0.61154	D	0.768139982329335	0.84079	8.188984	0.758077983575033	0.86758	8.993407	0.999651602027734	0.41424	0.582742	0.33608	0	0.573888	0.26702	0	0.61531	0.40942	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	4.493000	0.60061	4.920000	0.46033	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.882	0.92329	969	0.06854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1820.98	36	chr3	190855735	.	C	T	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=1.21;SOR=0.719	GT:AD:DP:GQ:PL	0/1:60,75:135:99:1835,0,1347	20	0	1	0
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	1929.74	302	chr3	195778964	.	C	*,T	1929.74	.	AC=5,2;AF=0.192,0.077;AN=26;BaseQRankSum=1.84;DP=7379;ExcessHet=2.9153;FS=0.592;InbreedingCoeff=-0.2440;MLEAC=7,3;MLEAF=0.269,0.115;MQ=57.13;MQRankSum=-5.602e+00;QD=0.71;ReadPosRankSum=-4.412e+00;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:14,0,18:32:26:0|1:195778917_G_C:710,736,816,0,80,26:195778917	6	0	5	8
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1663.5	302	chr3	195778967	.	G	C,*	1663.5	.	AC=2,3;AF=0.083,0.125;AN=24;BaseQRankSum=2.58;DP=7152;ExcessHet=1.3830;FS=0.614;InbreedingCoeff=-0.1308;MLEAC=3,5;MLEAF=0.125,0.208;MQ=58.02;MQRankSum=0.102;QD=0.77;ReadPosRankSum=-1.159e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,17,0:31:29:0|1:195778917_G_C:688,0,29,714,80,794:195778917	7	0	2	9
chr3	195784445	195784445	A	0	exonic	MUC4	.	.	.	.	.	409	1087	13	0	13	26	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	108.94	903	chr3	195784445	.	A	T,*	108.94	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=0.524;DP=21993;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=58.95;MQRankSum=-1.645e+00;QD=0.11;ReadPosRankSum=3.85;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3,0:5:75:0|1:195784439_G_C:120,0,75,126,84,210:195784439	12	0	1	7
chr3	195784560	195784560	A	0	exonic	MUC4	.	.	.	.	.	21	200	1	1	3	6	0.00744417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	118.35	499	chr3	195784560	.	A	G,*	118.35	.	AC=2,1;AF=0.167,0.083;AN=12;DP=11366;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=0.0221;MLEAC=3,2;MLEAF=0.250,0.167;MQ=60.00;QD=0.16;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3,0:3:9:1|1:195784560_A_G:130,9,0,130,9,130:195784560	4	1	0	15
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	77.83	457	chr3	195784575	.	C	G,*	77.83	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.15;DP=11392;ExcessHet=0.0295;FS=1.452;InbreedingCoeff=0.1763;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.55;MQRankSum=8.88;QD=0.03;ReadPosRankSum=5.23;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2,0:2:6:1|1:195784560_A_G:90,6,0,90,6,90:195784560	3	1	0	13
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.44	410	chr3	195784580	.	T	C,*	71.44	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12589;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3872;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2,0:2:6:1|1:195784560_A_G:90,6,0,90,6,90:195784560	13	1	0	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.59	410	chr3	195784583	.	C	G,*	71.59	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12544;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3654;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2,0:2:6:1|1:195784560_A_G:90,6,0,90,6,90:195784560	13	1	0	3
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6,0:6:18:1|1:195785310_G_A:250,18,0,250,18,250:195785310	0	19	0	0
chr3	195785371	195785371	G	0	exonic	MUC4	.	.	.	.	.	5	198	22	0	1	23	0.0526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25396.43	834	chr3	195785371	.	G	A,*	25396.43	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=1.36;DP=14123;ExcessHet=0.5418;FS=3.054;InbreedingCoeff=-0.0202;MLEAC=7,1;MLEAF=0.194,0.028;MQ=56.87;MQRankSum=0.044;QD=6.67;ReadPosRankSum=-2.969e+00;SOR=1.008	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5,0:5:15:1|1:195785310_G_A:225,15,0,225,15,225:195785310	11	1	5	3
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4,0:4:12:1|1:195785310_G_A:180,12,0,180,12,180:195785310	0	15	5	0
chr3	195788539	195788541	GGG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3039_3041del:p.P1014del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.009e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.099e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3,0:21:72:0|1:195788538_AGGG_A:72,0,747,126,756,882:195788538	17	0	1	0
chr3	195788538	195788541	AGGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3,0:21:72:0|1:195788538_AGGG_A:72,0,747,126,756,882:195788538	17	0	1	0
chr3	195788543	195788543	-	GTC	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2->GAC	nonframeshift insertion	MUC4:NM_018406:exon2:c.3036_3037insGAC:p.T1012_S1013insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.099e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.619e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3,0:21:72:0|1:195788538_AGGG_A:72,0,747,126,756,882:195788538	3	0	1	14
chr3	195788543	195788543	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3,0:21:72:0|1:195788538_AGGG_A:72,0,747,126,756,882:195788538	3	0	1	14
chr4	653934	653934	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon4:c.G794A:p.R265Q	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	194288	not_provided|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.999	D	0.000	D	1.000	D	1.78	L	-0.47	T	-0.291	T	0.466	T	0.898	4.982	29.2	5.26	2.449	9.447	16.361	0.577	0.0871653649265	0.0009	0.000599042	0.0012	0.0002	0.0007	0	0	0.0014	0.0011	0.0024	0.0011449	177	154602	rs144562730	0.0011	0.0011	0.0010	0.0012	0.0029	0.0010	0.0010	0.0022	0.0020	2.987e-05	0.0006	0.0003	0	1.882e-05	0.0029	0.0011	0.0011	0.0024	0.0008	0.0008	0.0008	0.0009	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0005	0.0012	0	0	0.0034	0.0014	0	0.0012	0.158	0.23905	T	0.314	0.19539	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.76	0.45711	L	-0.47	0.70133	T	-2.12	0.48184	N	0.898	0.90363	-0.2915	0.75223	T	0.466	0.79394	T	10	0.16307157	0.30545	T	0.087165	0.74882	D	0.577	0.82912	.	.	0.907322125651	0.90639	0.6271360079418107	0.62646	0.638029974731	0.57550	0.719041347504	0.69907	T	0.682089	0.90675	D	0.00553052	0.52414	T	0.22931	0.84636	D	0.0421555607017681	0.04083	T	0.971203	0.89615	D	0.25590616	0.48628	0.1802327	0.40809	0.22691232	0.45381	0.18985724	0.42355	-10.332	0.75875	D	0.3592111516918084	0.45579	0.331	0.60415	B	.;.	.;.	5.511426	0.91687	32	0.99944450236363702	0.99868	0.99109	0.91358	D	AEFDBI	0.932479	0.92291	D	0.727626993757273	0.81445	7.523435	0.729338854430165	0.84606	8.339105	0.999999999928149	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	5.26	5.26	0.73479	9.578000	0.97357	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	16.361	0.83100	799	0.44747	.;GAF domain|GAF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.04762	2973.11	33	chr4	653934	.	G	A	2973.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.56;DP=936;ExcessHet=0.1072;FS=0.954;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-4.710e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:47,39:86:99:884,0,1015	19	0	2	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/2:40,9,11:68:78:176,78,1714,0,1198,1758	12	0	8	0
chr4	2305231	2305231	G	A	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172656:exon7:c.C1019T:p.A340V	.	.	406	1106	10	0	0	10	0.00450045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	2.095	M	-0.19	T	-0.053	T	0.480	T	0.539	3.681	18.70	5.56	2.634	8.870	18.555	0.308	0.222669102875	.	0.00119808	0.0009	0	0	0	0	7.816e-05	0.0035	0.0061	0.0007309	113	154602	rs573489493	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	5.982e-05	0	3.836e-05	0	0	0.0014	5.493e-05	0.0003	0.0058	0.0003	0.0003	0.0002	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	2.404e-05	0	6.53e-05	0.0006	0	0	0	0.0001	0	0.0070	0.0	0.91255	D	0.153	0.39040	T	1.0	0.90584	D	0.997	0.86255	D	0.000020	0.62929	D	0.155307	1	0.81001	D	0.975	0.24501	L	-0.19	0.66652	T	-2.64	0.56630	D	0.534	0.65416	-0.0530	0.81143	T	0.480	0.80134	T	10	0.0087275505	0.00198	T	0.222669	0.87865	D	0.308	0.62947	.	.	0.301078425253	0.29709	0.5189431871291065	0.51817	0.275773141277	0.30057	0.812836289406	0.83927	D	0.136232	0.46849	T	-0.273606	0.11358	T	-0.163458	0.58039	T	0.0984204919618052	0.12183	T	0.940606	0.77652	D	0.47369534	0.65517	0.42079395	0.66031	0.47369534	0.65518	0.42079395	0.66032	-4.864	0.35328	T	.	.	0.254	0.55781	B	.;.;.	.;.;.	3.687881	0.52528	23.2	0.99911936320710293	0.98095	0.99405	0.95607	D	AEFDBI	0.922223	0.89687	D	0.534735445931743	0.69160	5.317517	0.422768040461784	0.62987	4.523736	0.999999999998593	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.56	5.56	0.83678	6.051000	0.70697	8.310000	0.76945	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:1.0:0.0	18.555	0.91032	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1421.98	37	chr4	2305231	.	G	A	1421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.510e-01;DP=1170;ExcessHet=0.0000;FS=2.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.63;ReadPosRankSum=0.377;SOR=0.791	GT:AD:DP:GQ:PL	0/1:34,57:91:99:1436,0,759	20	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.076	16.27	5.94	2.820	8.776	19.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	531.26	142	chr4	2662992	.	G	C	531.26	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.826e+00;DP=2064;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.827;SOR=11.598	GT:AD:DP:GQ:PL	0/1:48,20:68:11:11,0,547	11	0	6	4
chr4	2827265	2827265	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon6:c.C464T:p.A155V	Cherubism, Autosomal dominant	.	0	1501	21	0	0	21	0.00694674	.	.	298178	Fibrous_dysplasia_of_jaw|not_specified|not_provided	MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.994	D	0.006	N	1.000	D	1.79	L	2.09	T	-0.145	T	0.413	T	0.184	2.793	15.30	4.09	1.091	2.734	11.931	0.092	.	0.0056	0.00399361	0.0056	0.0012	0.0024	0	0.0011	0.0088	0.0022	0.0029	0.0055497	858	154602	rs35313240	0.0070	0.0070	0.0071	0.0070	0.0142	0.0069	0.0069	0.0117	0.0108	0.0014	0.0030	0.0051	0	0.0011	0.0142	0.0083	0.0064	0.0025	0.0044	0.0044	0.0049	0.0040	0.0075	0.0041	0.0040	0.0070	0.0068	0.0013	0	0.0031	0.0049	0	0.0012	0.0034	0.0075	0.0066	0.0027	0.009	0.59928	D	0.183	0.51737	T	0.457	0.36287	P	0.223	0.37929	B	0.006187	0.32207	N	0.333978	0.568238	0.32271	D	1.935	0.51832	L	-1.28	0.79571	T	-2.03	0.47514	N	0.215	0.28381	-0.1450	0.79041	T	0.413	0.76074	T	10	0.006905973	0.00157	T	.	.	.	0.092	0.26621	.	.	0.902085970072	0.90110	.	.	0.182245956989	0.20488	0.39841324091	0.24847	T	0.368239	0.73317	T	-0.368846	0.03652	T	-0.294637	0.45289	T	0.0107835674924491	0.00153	T	0.968303	0.89432	D	0.06393285	0.13513	0.09659818	0.22959	0.07389554	0.16544	0.101601526	0.24326	-8.227	0.66771	D	0.12766259741121452	0.13107	0.094	0.18539	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.888414	0.38249	20.7	0.99824003079150081	0.90677	0.85164	0.44274	D	AEFBCI	0.384671	0.46571	N	-0.0690292221457046	0.38758	2.274867	-0.136070640989203	0.33949	1.947432	0.999921016605919	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.94	4.09	0.47038	3.252000	0.51162	2.611000	0.33577	0.535000	0.24933	0.868000	0.30757	0.992000	0.31684	0.364000	0.25977	0.0:0.9138:0.0:0.0862	11.931	0.52133	740	0.53092	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1027.98	34	chr4	2827265	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.968;SOR=0.732	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1042,0,1094	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:8,0,39,0,45,0,0:92:99:.:.:2371,2575,3568,1174,2074,1956,2575,3568,2074,3568,1016,1521,0,1521,1418,2575,3568,2074,3568,1521,3568,2575,3568,2074,3568,1521,3568,3568	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:8,0,39,0,45,0,0:92:99:.:.:2371,2575,3568,1174,2074,1956,2575,3568,2074,3568,1016,1521,0,1521,1418,2575,3568,2074,3568,1521,3568,2575,3568,2074,3568,1521,3568,3568	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:8,0,39,0,45,0,0:92:99:.:.:2371,2575,3568,1174,2074,1956,2575,3568,2074,3568,1016,1521,0,1521,1418,2575,3568,2074,3568,1521,3568,2575,3568,2074,3568,1521,3568,3568	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:8,0,39,0,45,0,0:92:99:.:.:2371,2575,3568,1174,2074,1956,2575,3568,2074,3568,1016,1521,0,1521,1418,2575,3568,2074,3568,1521,3568,2575,3568,2074,3568,1521,3568,3568	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:8,0,39,0,45,0,0:92:99:.:.:2371,2575,3568,1174,2074,1956,2575,3568,2074,3568,1016,1521,0,1521,1418,2575,3568,2074,3568,1521,3568,2575,3568,2074,3568,1521,3568,3568	3	1	1	0
chr4	3473439	3473439	C	T	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001164673:exon3:c.C134T:p.S45L	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	0	1501	20	1	0	22	0.00727513	.	.	193758	not_provided|Fetal_akinesia_deformation_sequence_1|not_specified|Congenital_myasthenic_syndrome_10	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MedGen:CN169374|MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.382	B	0.064	B	0.204	N	1.000	N	1.43	L	-0.89	T	-0.958	T	0.187	T	0.323	1.485	10.91	2.82	0.727	1.561	11.748	0.175	0.0624901798016	0.0053	0.00199681	0.0052	0.0022	0.0014	0.0020	0.0006	0.0076	0.0046	0.0039	0.0050323	778	154602	rs62272670	0.0055	0.0055	0.0055	0.0055	0.0050	0.0054	0.0053	0.0049	0.0048	0.0017	0.0013	0.0503	0.0014	0.0012	0.0041	0.0050	0.0076	0.0050	0.0046	0.0046	0.0049	0.0044	0.0052	0.0044	0.0042	0.0048	0.0046	0.0020	0.0526	0.0008	0.0461	0.0031	0.0008	0	0.0052	0.0043	0.0031	0.668	0.05325	T	0.042	0.50226	D	0.382	0.34403	B	0.064	0.27215	B	0.204107	0.16526	N	0.579443	1	0.08975	N	1.5	0.37844	L	-0.89	0.74793	T	-3.6	0.69357	D	0.538	0.74371	-0.9580	0.39552	T	0.187	0.53691	T	10	0.0065547824	0.00149	T	0.06249	0.68670	D	0.175	0.44197	.	.	0.78300725631	0.78100	0.23450212601361356	0.23365	0.00535340168782	0.00472	0.495576709509	0.38211	T	0.433107	0.78065	T	-0.411266	0.01950	T	-0.358405	0.38238	T	0.0303045756909654	0.02036	T	0.865113	0.56350	D	0.115241185	0.27197	0.18905671	0.42231	0.110617764	0.26144	0.21030135	0.45410	-10.065	0.76680	D	0.5248874870876927	0.59660	0.114	0.22537	B	.;.	.;.	2.934284	0.38996	20.9	0.98852417109926549	0.47322	0.26343	0.22966	N	AEFDBIJ	0.172434	0.29947	N	-0.595213771903651	0.19089	0.9963593	-0.625632798723542	0.18835	1.007964	0.925807394480531	0.26828	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.7	2.82	0.32061	0.707000	0.25379	2.745000	0.34492	0.537000	0.25018	0.000000	0.06391	0.040000	0.21562	0.630000	0.32157	0.0:0.8124:0.1876:0.0	11.748	0.51097	889	0.27310	.;Pleckstrin homology domain|Pleckstrin homology domain|Dok-7, PH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2191.11	61	chr4	3473439	.	C	T	2191.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=848;ExcessHet=0.1072;FS=8.124;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.99;ReadPosRankSum=-6.860e-01;SOR=1.339	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1235,0,626	19	0	2	0
chr4	3500319	3500319	G	A	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001363811:exon7:c.G1177A:p.V393M	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.847	P	0.133	B	0.041	U	1.000	N	.	.	-0.63	T	-0.845	T	0.141	T	0.012	0.642	7.446	0.060	-0.130	2.270	3.249	0.145	0.0043573498316	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs992134227	1.59e-05	1.505e-05	1.855e-05	1.318e-05	0.0002	1.041e-05	8.89e-06	1.043e-05	8.6e-06	0	2.802e-05	0	0	0	0.0002	1.669e-05	1.727e-05	1.262e-05	3.286e-05	3.283e-05	5.139e-05	1.346e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.040639	0.24037	U	0.308282	0.585395	0.31065	N	.	.	.	.	.	.	.	.	.	.	.	-0.8448	0.52325	T	0.141	0.46072	T	9	0.1537332	0.29012	T	0.004357	0.10624	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.846915	0.52723	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	1.824976	0.23188	15.92	0.95418497305744232	0.26894	0.71179	0.34902	D	AEFDBCI	0.140776	0.26276	N	-0.39464798831115	0.25659	1.394527	-0.526605972514418	0.21432	1.159364	0.967096509383019	0.28952	0.59774	0.34471	0	0.514364	0.08380	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	3.19	0.060	0.13649	2.633000	0.46185	0.538000	0.19308	-0.103000	0.15852	0.996000	0.39380	0.001000	0.17328	0.195000	0.21750	0.2938:0.2221:0.4841:0.0	3.249	0.06403	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1238.98	33	chr4	3500319	.	G	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=825;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.644;SOR=0.607	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1253,0,1208	20	0	1	0
chr4	5640776	5640776	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon10:c.G968A:p.S323N	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	0	1501	21	0	0	21	0.00694674	.	.	721018	not_provided|Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	MedGen:C3661900|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.998	D	0.943	D	0.000	D	0.611	N	2.015	M	-1.13	T	-0.589	T	0.051	T	0.301	3.207	16.74	4.25	2.074	2.183	16.006	0.224	0.0411983010116	.	0.00159744	0.0009	9.623e-05	0.0002	0	0.0002	0.0001	0.0011	0.0058	0.0007891	122	154602	rs202093384	0.0005	0.0005	0.0003	0.0007	0.0054	0.0005	0.0005	0.0050	0.0048	5.974e-05	6.708e-05	0	0	0	0.0035	0.0002	0.0007	0.0054	0.0003	0.0003	0.0003	0.0004	0.0066	0.0003	0.0002	0.0048	0.0042	2.406e-05	0	0	0	0	0	0	0.0002	0.0005	0.0066	0.267	0.16198	T	0.083	0.42086	T	0.998	0.73220	D	0.943	0.67921	D	0.000027	0.55875	D	0.068846	0.611081	0.30860	N	2.39	0.68882	M	-1.13	0.77719	T	-1.07	0.27876	N	0.505	0.53708	-0.5889	0.65264	T	0.051	0.21806	T	10	0.009762138	0.00219	T	0.041198	0.59795	D	0.224	0.52174	.	.	0.859301265328	0.85794	0.24030642424541548	0.23944	0.16723517785	0.18862	0.449978023767	0.31940	T	0.403872	0.76050	T	-0.352491	0.04572	T	-0.277048	0.47106	T	0.0594543888086458	0.07082	T	0.786321	0.43180	T	0.18487015	0.39822	0.16306011	0.37845	0.19000372	0.40566	0.1558746	0.36518	-6.123	0.47297	T	.	.	0.327	0.56185	B	.;.	.;.	3.898939	0.56784	23.8	0.99347238664740978	0.60412	0.84233	0.43316	D	AEFBI	0.289735	0.40130	N	0.361466890216439	0.59348	4.113422	0.302342201556127	0.55676	3.731	0.999999986085553	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.25	4.25	0.49658	1.811000	0.38580	5.582000	0.48972	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:1.0:0.0:0.0	16.006	0.80158	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	951.98	44	chr4	5640776	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=887;ExcessHet=0.0000;FS=4.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=2.24;SOR=1.121	GT:AD:DP:GQ:PL	0/1:52,37:89:99:966,0,1162	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:55,16:71:10:10,0,1137	0	0	21	0
chr4	9211832	9211832	A	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A1176T:p.R392S,	.	.	1163	356	1	2	0	5	0.0069735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	N	1.000	N	0.14	N	1.06	T	-1.047	T	0.058	T	0.091	-0.751	0.814	0.337	0.373	1.047	.	0.048	.	.	.	0.0025	0.1053	0	0	0	0.0026	0	0	3.84e-05	1	26028	rs772527028	0.0003	0.0029	0.0003	0.0002	0.0032	0.0002	0.0002	0.0011	0.0006	0.0032	0.0002	0	0	0.0002	0	0.0003	0	0.0002	0	0.0012	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.594	0.05737	T	0.711	0.05506	T	.	.	.	.	.	.	0.017419	0.01465	N	2.715260	0.999997	0.08975	N	-0.305	0.03614	N	1.06	0.39781	T	0.51	0.04091	N	0.167	0.17691	-1.0474	0.15130	T	0.058	0.24279	T	6	0.0042978525	0.00086	T	.	.	.	0.048	0.13305	0.285	0.24280	0.0954503805726	0.09146	0.007080721645171505	0.00675	.	.	0.442511886358	0.30920	T	0.002047	0.01452	T	-0.311873	0.07584	T	-0.68576	0.06637	T	0.00190084663201817	0.00019	T	0.413759	0.10783	T	0.11266872	0.26616	0.08962535	0.20969	0.11266872	0.26616	0.08962535	0.20968	-3.599	0.17842	T	.	.	0.149	0.32874	B	.;.	.;.	0.334718	0.07086	3.657	0.71546181859456126	0.09666	0.03471	0.08627	N	AEFI	0.037047	0.05032	N	-0.82370369791333	0.12706	0.6210558	-0.984100776170731	0.10142	0.5089458	2.19530635383511E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.544000	0.22960	.	.	-0.492000	0.05042	0.011000	0.18532	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1	38.91	141	chr4	9211832	.	A	T	38.91	.	AC=2;AF=0.100;AN=20;DP=141;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3183;MLEAC=2;MLEAF=0.100;MQ=42.00;QD=19.46;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	11
chr4	9782252	9782252	A	G	exonic	DRD5	.	nonsynonymous SNV	DRD5:NM_000798:exon1:c.A223G:p.M75V,	Dystonia, primary cervical (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.012	B	0.003	B	0.000	D	1.000	D	-2.435	N	1.36	T	-1.001	T	0.013	T	0.123	-0.945	0.351	4.01	1.685	7.090	4.668	0.139	0.00130551320981	.	.	1.671e-05	0	0	0	0	3.043e-05	0	0	1.29e-05	2	154602	rs745775968	7.527e-06	7.524e-06	5.447e-06	9.629e-06	8.994e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.012	0.16265	B	0.003	0.08700	B	0.000002	0.62929	D	0.057916	0.781303	0.34270	D	-2.12	0.00150	N	1.36	0.34452	T	1.47	0.00765	N	0.062	0.03392	-1.0012	0.29574	T	0.013	0.05273	T	10	0.10661745	0.19766	T	0.001306	0.01809	T	0.139	0.37390	0.508	0.60386	0.0611884634855	0.05136	0.4239581103860233	0.42312	0.241051324156	0.26636	0.697599947453	0.66797	T	0.077168	0.35591	T	-0.207852	0.19683	T	-0.536342	0.18658	T	0.180571534420127	0.19271	T	0.917708	0.70434	D	0.31113243	0.53884	0.26914346	0.52791	0.31113243	0.53885	0.26914346	0.52790	0.979	0.00135	T	.	.	0.067	0.02488	B	.	.	1.159840	0.15487	11.89	0.79253100906617779	0.12658	0.76640	0.37604	D	AEFDBI	0.436538	0.49671	N	-0.714127520554493	0.15624	0.7890179	-0.40824832799867	0.24755	1.357388	0.999955560894419	0.48110	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	4.01	4.01	0.45821	7.064000	0.76416	.	.	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.7718:0.0:0.2282:0.0	4.668	0.12061	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1334.98	35	chr4	9782252	.	A	G	1334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.770e-01;DP=867;ExcessHet=0.0000;FS=2.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=0.00;QD=8.96;ReadPosRankSum=-1.920e-01;SOR=0.590	GT:AD:DP:GQ:PL	0/1:80,69:149:99:1349,0,1829	20	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGG:p.F488Gfs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.416e-05	0.0011	7.738e-05	7.09e-05	0.0003	6.203e-05	5.787e-05	0.0001	0.0001	0.0003	2.912e-05	0.0002	3.182e-05	4.243e-05	0	7.362e-05	0.0001	1.291e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:50,0,0,0,6:56:94:0|1:15004125_C_CGGGGGGGGGGGGGGGGGGG:94,245,2266,245,2266,2266,245,2266,2266,2266,0,2022,2022,2022,2004:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGG:p.F488Gfs*69	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54e-05	0.0002	1.458e-05	1.623e-05	0.0001	9.9e-06	8.4e-06	2.879e-05	1.498e-05	0.0001	0	4.257e-05	3.181e-05	2.121e-05	0	1.319e-05	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:50,0,0,0,6:56:94:0|1:15004125_C_CGGGGGGGGGGGGGGGGGGG:94,245,2266,245,2266,2266,245,2266,2266,2266,0,2022,2022,2022,2004:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22	.	.	373	1134	5	0	10	15	0.00219974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0031	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	8.738e-05	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	2.584e-05	6.656e-06	0.0001	1.299e-05	0	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:50,0,0,0,6:56:94:0|1:15004125_C_CGGGGGGGGGGGGGGGGGGG:94,245,2266,245,2266,2266,245,2266,2266,2266,0,2022,2022,2022,2004:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGGGGG:p.F488Gfs*70	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	5.542e-05	4.373e-06	2.951e-06	3.623e-05	1.07e-06	7.8e-07	3.1e-07	1.2e-07	3.623e-05	0	4.257e-05	0	0	0	1.885e-06	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:50,0,0,0,6:56:94:0|1:15004125_C_CGGGGGGGGGGGGGGGGGGG:94,245,2266,245,2266,2266,245,2266,2266,2266,0,2022,2022,2022,2004:15004125	16	0	1	0
chr4	17652971	17652971	G	A	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon11:c.C2050T:p.R684C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.01	B	0.003	B	0.211	N	1.000	N	0.945	L	1.27	T	-1.046	T	0.043	T	0.211	2.993	15.98	3.07	0.606	1.369	7.666	0.028	.	.	0.000998403	0.0013	0	0	0	0.0208	0.0025	0	0.0003	0.0003428	53	154602	rs191859569	0.0012	0.0011	0.0011	0.0012	0.0010	0.0011	0.0011	0.0010	0.0010	6.33e-05	0	0	2.798e-05	0.0092	0	0.0010	0.0007	3.786e-05	0.0015	0.0015	0.0013	0.0016	0.0020	0.0013	0.0012	0.0017	0.0016	9.622e-05	0	0	0	0	0.0078	0	0.0020	0	0.0002	0.076	0.34269	T	0.042	0.50226	D	0.01	0.15535	B	0.003	0.08700	B	0.211294	0.16359	N	0.616100	0.999961	0.18878	N	1.9	0.50570	L	1.27	0.36146	T	-3.89	0.72820	D	0.144	0.14480	-1.0461	0.15505	T	0.043	0.18701	T	10	0.0043787956	0.00089	T	.	.	.	0.028	0.06331	.	.	0.242825505644	0.23883	0.2874959723166953	0.28662	.	.	0.32935500145	0.14837	T	0.360953	0.72711	T	-0.528582	0.00392	T	-0.530957	0.19191	T	0.0471548276628772	0.04992	T	0.785621	0.42343	T	0.10337242	0.24434	0.1275654	0.30704	0.10337242	0.24434	0.1275654	0.30704	-8.506	0.64469	D	.	.	0.104	0.18787	B	.	.	3.731058	0.53370	23.4	0.99877269315745776	0.95410	0.22063	0.21619	N	AEFBI	0.086007	0.17438	N	-0.511480135395555	0.21708	1.154039	-0.430397308921925	0.24111	1.318464	3.92250247432376E-4	0.06820	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.83	3.07	0.34476	1.558000	0.35917	4.110000	0.41913	0.676000	0.76740	0.404000	0.26202	0.895000	0.27885	0.990000	0.65344	0.2838:0.0:0.7162:0.0	7.666	0.27595	697	0.58201	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	880.98	34	chr4	17652971	.	G	A	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.900e-01;DP=769;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.312;SOR=0.954	GT:AD:DP:GQ:PL	0/1:40,41:81:99:895,0,863	20	0	1	0
chr4	25664312	25664312	G	A	exonic	SLC34A2	.	nonsynonymous SNV	SLC34A2:NM_001177998:exon4:c.G358A:p.A120T	Pulmonary alveolar microlithiasis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1487913	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.981	D	0.000	D	1.000	D	2.79	M	-2.1	D	0.789	D	0.816	D	0.949	4.991	29.3	5.35	2.678	9.640	19.440	0.927	0.142610414761	.	0.000199681	2.471e-05	0.0002	0	0	0	1.498e-05	0	0	2.59e-05	4	154602	rs565847214	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0002	4.96e-06	3.82e-06	9.89e-06	3.7e-06	5.974e-05	0	0	0	7.488e-05	0.0002	3.597e-06	1.656e-05	1.159e-05	4.6e-05	4.594e-05	6.428e-05	2.689e-05	9.638e-05	2.11e-05	1.527e-05	3.246e-05	1.913e-05	9.638e-05	0	0	0	0	0	0	1.47e-05	0.0009	0	0.002	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.958	0.75168	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	-2.1	0.86146	D	-3.82	0.71997	D	0.926	0.93018	0.789	0.94276	D	0.816	0.93790	D	10	0.94741523	0.94070	D	0.14261	0.82498	D	0.927	0.98229	0.843	0.94784	0.982156109564	0.98196	0.8008649063447094	0.80040	0.852694544068	0.68618	0.488183408976	0.37186	T	0.792446	0.94622	D	0.228844	0.76612	D	0.370377	0.91088	D	0.904381453990936	0.55784	D	0.881212	0.75104	D	0.73592055	0.80059	0.7985064	0.88175	0.73592055	0.80061	0.7985064	0.88176	-9.743	0.72359	D	0.7540178067066432	0.83604	0.334	0.69791	B	.;.;.;.;.;.	.;.;.;.;.;.	4.850508	0.79284	27.1	0.99897273828797384	0.96971	0.99406	0.95621	D	AEFBI	0.918709	0.88816	D	0.939488826527691	0.93555	12.11786	0.888332605070558	0.95042	13.26146	0.999999999999979	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	9.805000	0.98252	7.447000	0.58926	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:0.0:1.0:0.0	19.440	0.94805	929	0.16858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1079.98	38	chr4	25664312	.	G	A	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.421e+00;DP=799;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-8.600e-01;SOR=0.810	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1094,0,1166	20	0	1	0
chr4	38051978	38051978	C	T	exonic	TBC1D1	.	nonsynonymous SNV	TBC1D1:NM_001253912:exon12:c.C1990T:p.P664S,	.	.	411	1094	16	1	0	18	0.00815956	.	.	777448	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.43	T	0.635	P	0.122	B	.	.	1.000	D	.	.	3.62	T	-0.708	T	0.004	T	0.184	2.003	12.66	5.65	2.664	2.969	12.993	0.087	.	.	0.00838658	0.0077	0.0052	0.0068	0.0205	0	0.0007	0.0097	0.0140	0.0013648	211	154602	rs117452860	0.0023	0.0022	0.0020	0.0026	0.0278	0.0022	0.0022	0.0264	0.0258	0.0029	0.0099	0.0021	0.0278	0	0.0082	0.0002	0.0036	0.0153	0.0027	0.0027	0.0028	0.0026	0.0151	0.0025	0.0024	0.0123	0.0113	0.0038	0	0.0051	0.0017	0.0147	0	0	0.0003	0.0024	0.0151	0.299	0.14546	T	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	0.999335	0.81001	D	.	.	.	3.62	0.04399	T	-0.32	0.12283	N	0.774	0.77132	-0.7079	0.60056	T	0.004	0.01192	T	8	0.0065568388	0.00149	T	.	.	.	0.087	0.25287	.	.	0.269111216191	0.26524	.	.	.	.	.	.	.	.	.	.	-0.5521	0.00283	T	-0.554154	0.16929	T	0.0100619775686471	0.00135	T	0.835616	0.50622	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.155	0.34339	B	.	.	2.873209	0.37996	20.6	0.98515519287653175	0.42398	0.86718	0.46059	D	AEFBIJ	0.386185	0.46665	N	0.19164663519664	0.50798	3.266462	0.312551521042106	0.56277	3.79076	0.999999949810211	0.74766	0.744818	0.98587	0	0.546412	0.12157	0	0.732433	0.93434	0	0.447301	0.06993	0	.	.	5.65	5.65	0.86881	5.203000	0.65009	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.9261:0.0:0.0739	12.993	0.58033	772	0.48957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	35	chr4	38051978	.	C	T	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=820;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-2.569e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/1:56,39:95:99:815,0,1202	20	0	1	0
chr4	38773195	38773195	C	T	exonic	TLR10	.	nonsynonymous SNV	TLR10:NM_001017388:exon2:c.G2396A:p.R799Q	.	.	429	1047	46	0	0	46	0.0214953	.	.	2822487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.007	B	0.002	B	0.264	N	1.000	N	0.345	N	2.68	T	-0.986	T	0.014	T	0.094	1.138	9.637	-1.62	-0.307	-0.532	5.535	0.014	0.00187015817586	0.0045	0.00339457	0.0048	0.0005	0.0047	0	0.0009	0.0060	0.0088	0.0080	0.0047735	738	154602	rs4129008	0.0035	0.0036	0.0033	0.0038	0.0134	0.0034	0.0034	0.0109	0.0100	0.0005	0.0040	0.0166	0	0.0007	0.0134	0.0031	0.0055	0.0084	0.0037	0.0037	0.0038	0.0036	0.0108	0.0034	0.0033	0.0084	0.0076	0.0004	0	0.0040	0.0173	0.0002	0.0002	0.0170	0.0050	0.0099	0.0108	0.287	0.15149	T	0.771	0.04461	T	0.007	0.14184	B	0.002	0.06944	B	0.263916	0.03727	N	1.716230	1	0.08975	N	1.245	0.31408	L	2.68	0.12371	T	-0.27	0.11366	N	0.066	0.07398	-0.9860	0.33590	T	0.014	0.05561	T	10	0.0044157505	0.00090	T	0.00187	0.03272	T	0.014	0.01968	.	.	0.18995819373	0.18626	0.1451211992874426	0.14435	0.0599924990014	0.06676	0.165198862553	0.00018	T	0.018991	0.15211	T	-0.679565	0.00048	T	-0.745059	0.03682	T	0.00263097535739466	0.00027	T	0.683132	0.29138	T	0.025159713	0.01423	0.028046945	0.01006	0.025159713	0.01423	0.028046945	0.01006	-3.703	0.19363	T	.	.	0.071	0.03964	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.189900	0.03142	0.507	0.66708251931569984	0.08138	0.00969	0.03707	N	AEFBCI	0.042094	0.06485	N	-1.28919650298075	0.03804	0.1706082	-1.30982611816678	0.04303	0.2026425	0.173269479786867	0.17767	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.99	-1.62	0.07926	-0.865000	0.04358	-6.751000	0.01315	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.1917:0.2908:0.0:0.5175	5.535	0.16296	735	0.53711	.;.;.;.;.;.	.	.	.	.	rs4129008	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1009.98	37	chr4	38773195	.	C	T	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.197;DP=932;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=0.926;SOR=0.786	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1024,0,1190	20	0	1	0
chr4	41982378	41982378	G	A	exonic	DCAF4L1	.	nonsynonymous SNV	DCAF4L1:NM_001029955:exon1:c.G586A:p.A196T,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.898	P	0.137	B	0.001	D	0.634	D	1.995	M	-0.47	T	-0.755	T	0.173	T	0.115	1.900	12.31	0.688	0.635	1.082	3.039	0.204	0.00982608711377	0.0017	0.000399361	0.0011	0.0005	0.0003	0	0	0.0016	0.0022	0.0005	0.0011837	183	154602	rs139209766	0.0017	0.0017	0.0017	0.0017	0.0021	0.0017	0.0016	0.0021	0.0020	0.0004	0.0005	0	0	3.744e-05	0.0021	0.0021	0.0009	0.0004	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0002	0.0003	0	9.423e-05	0	0.0019	0.0014	0.0008	0.096	0.31088	T	0.289	0.21078	T	0.898	0.49442	P	0.137	0.33328	B	0.000784	0.41772	D	0.277345	0.633685	0.32813	D	1.905	0.50856	L	-0.47	0.70133	T	-1.46	0.35792	N	0.2	0.22098	-0.7554	0.57651	T	0.173	0.51579	T	10	0.011575431	0.00252	T	0.009826	0.25631	T	0.204	0.49076	.	.	0.134007934775	0.12933	0.2227637100081241	0.22191	0.855463859066	0.68732	0.322410464287	0.13786	T	0.049877	0.28434	T	-0.472268	0.00823	T	-0.464387	0.26123	T	0.0265638361312182	0.01483	T	0.90061	0.65471	D	0.05825504	0.11696	0.07129384	0.15251	0.05825504	0.11696	0.07129384	0.15251	-4.398	0.29530	T	.	.	0.110	0.21087	B	.	.	1.372553	0.17831	13.39	0.99227718504538742	0.56120	0.23523	0.22103	N	AEFDI	0.045072	0.07329	N	-0.396045955405243	0.25610	1.391463	-0.56531784014552	0.20400	1.098904	0.743928072783988	0.23255	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	0.688	0.688	0.17190	1.173000	0.31529	3.504000	0.38797	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.161000	0.20682	0.3493:0.0:0.6507:0.0	3.039	0.05762	598	0.68232	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	899.98	39	chr4	41982378	.	G	A	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=869;ExcessHet=0.0000;FS=2.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-9.880e-01;SOR=1.061	GT:AD:DP:GQ:PL	0/1:28,36:64:99:914,0,607	20	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.500	N	1.000	N	0.11	N	-1.0	T	-0.935	T	0.210	T	0.088	-2.061	0.006	-1.83	-0.366	-0.114	13.716	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	733.66	116	chr4	53145477	.	T	C	733.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.026e+00;DP=1805;ExcessHet=2.5830;FS=148.015;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=0.708;SOR=11.035	GT:AD:DP:GQ:PL	0/1:78,24:102:71:71,0,1576	14	0	7	0
chr4	54010140	54010140	G	C	exonic	CHIC2	.	nonsynonymous SNV	CHIC2:NM_012110:exon6:c.C453G:p.I151M,	.	.	464	1056	2	0	0	2	0.000946074	.	.	3297032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.956	P	0.671	P	0.000	D	1.000	D	1.905	M	.	.	-0.537	T	0.326	T	0.778	2.749	15.15	5.75	2.701	2.179	14.137	0.131	0.0101022180117	7.7e-05	.	0.0002	0	8.924e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs372598321	0.0001	0.0001	0.0001	0.0001	0.0005	9.727e-05	9.203e-05	0.0001	7.57e-05	0	4.485e-05	0.0020	0	0	0.0005	8.507e-05	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	6.563e-05	0.0017	0	0	0	0.0003	0	0	0.011	0.57480	D	0.03	0.54934	D	0.956	0.54666	P	0.671	0.53151	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	.	.	.	-1.17	0.29933	N	0.741	0.81261	-0.5373	0.67266	T	0.326	0.69461	T	9	0.16647601	0.31087	T	0.010102	0.26235	T	0.247	0.55478	.	.	0.681951388522	0.67924	0.5978692133459061	0.59717	1.5162887928	0.87322	0.861303806305	0.91303	D	0.199137	0.55633	T	-0.0171252	0.49262	T	0.0324592	0.72438	D	0.122984938323498	0.14719	T	0.946705	0.79569	D	0.3291348	0.55400	0.28072757	0.54049	0.3291348	0.55400	0.28072757	0.54048	-3.82	0.21104	T	.	.	0.697	0.72836	P	.;.	.;.	4.424417	0.68558	25.3	0.99662822401717588	0.78074	0.95531	0.65092	D	AEFBI	0.416914	0.48517	N	0.359303483399902	0.59231	4.10099	0.439016316251181	0.64013	4.647249	0.467339828100099	0.20677	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	1.817000	0.38640	9.944000	0.82678	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0715:0.0:0.9285:0.0	14.137	0.64830	683	0.59664	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	975.98	32	chr4	54010140	.	G	C	975.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=684;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.38;ReadPosRankSum=-7.040e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/1:58,46:104:99:990,0,1356	20	0	1	0
chr4	70158722	70158722	-	GCCTGCTGCAGAGGCACCTGT	exonic	PRR27	.	nonframeshift insertion	PRR27:NM_214711:exon3:c.470_471insGCCTGCTGCAGAGGCACCTGT:p.V164_G165insPAAEAPV,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.092e-06	2.091e-06	1.386e-06	2.807e-06	0.0002	5.6e-07	1.5e-07	3.1e-07	1.1e-07	0	0	0	0	0	0.0002	1.834e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1582.11	79	chr4	70158722	.	A	AGCCTGCTGCAGAGGCACCTGT,*	1582.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.141e+00;DP=1077;ExcessHet=0.3300;FS=2.767;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.93;ReadPosRankSum=-1.805e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/1:55,43,0:98:99:1596,0,2163,1764,2292,4057	18	0	1	0
chr4	70158722	70158722	A	0	exonic	PRR27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1582.11	79	chr4	70158722	.	A	AGCCTGCTGCAGAGGCACCTGT,*	1582.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.141e+00;DP=1077;ExcessHet=0.3300;FS=2.767;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.93;ReadPosRankSum=-1.805e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/1:55,43,0:98:99:1596,0,2163,1764,2292,4057	18	0	1	0
chr4	73998577	73998577	C	T	exonic	CXCL5	.	nonsynonymous SNV	CXCL5:NM_002994:exon1:c.G5A:p.S2N,	.	.	378	1141	2	1	0	4	0.00174978	.	.	3243225	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.608	P	0.202	B	0.999	N	1.000	N	1.95	M	.	.	-1.026	T	0.077	T	0.056	2.587	14.61	0.638	-0.100	0.598	3.446	0.049	0.00313136025525	.	.	2.405e-05	0	0	0	0	4.728e-05	0	0	1.29e-05	2	154602	rs200226758	3.769e-05	3.694e-05	3.321e-05	4.224e-05	0.0002	2.952e-05	2.644e-05	3.504e-05	3.162e-05	0	0	0	0	0	0.0002	4.555e-05	5.058e-05	0	4.6e-05	4.597e-05	5.139e-05	4.035e-05	0.0001	2.109e-05	1.527e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.005	0.63226	D	0.129	0.34837	T	0.608	0.39540	P	0.202	0.36942	B	0.998762	0.07951	N	1.000590	1	0.08975	N	2.39	0.68882	M	.	.	.	-0.82	0.22508	N	0.183	0.19861	-1.0260	0.21756	T	0.077	0.30889	T	9	0.14011005	0.26634	T	0.003131	0.06815	T	0.049	0.13647	.	.	0.231231049324	0.22751	0.23375044786846833	0.23290	0.186424899803	0.20951	0.537691831589	0.44119	T	0.102693	0.41065	T	-0.349067	0.04786	T	-0.545538	0.17756	T	0.0991052538156509	0.12258	T	0.389061	0.09624	T	0.12929508	0.30203	0.17316453	0.39624	0.12929508	0.30203	0.17316453	0.39623	-5.64	0.43156	T	.	.	0.114	0.22573	B	.	.	1.038850	0.14191	10.77	0.97755761419083931	0.35776	0.05412	0.11282	N	ALL	0.034772	0.04364	N	-0.612804017205834	0.18559	0.9644808	-0.751556335991391	0.15684	0.8260976	0.999999990443367	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	3.51	0.638	0.16913	0.691000	0.25147	0.015000	0.13501	0.454000	0.21428	0.077000	0.22263	0.000000	0.08366	0.080000	0.17246	0.0:0.5264:0.2164:0.2572	3.446	0.07050	238	0.90711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1439.98	37	chr4	73998577	.	C	T	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.540e-01;DP=927;ExcessHet=0.0000;FS=3.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-2.141e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1454,0,1552	20	0	1	0
chr4	78421883	78421883	C	G	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon34:c.C4561G:p.H1521D	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.033	B	0.021	B	0.012	N	1.000	D	0.205	N	0.96	T	-1.085	T	0.060	T	0.116	1.860	12.18	4.89	2.746	5.522	11.353	0.047	0.0048832159345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.003	0.79402	D	.	.	.	.	.	.	0.011870	0.29372	N	0.370050	0.922299	0.27264	N	0.345	0.11182	N	0.96	0.42888	T	-2.3	0.51157	N	0.197	0.21710	-1.0852	0.06371	T	0.060	0.24981	T	10	0.18576771	0.34012	T	0.004883	0.12255	T	0.047	0.12962	0.247	0.18293	0.533179623451	0.52966	0.362556992458954	0.36169	.	.	0.22927890718	0.01915	T	.	.	.	-0.223453	0.17525	T	-0.558751	0.16493	T	0.521083891391754	0.33405	D	0.764923	0.46649	T	.	.	.	.	.	.	.	.	-3.893	0.32147	T	.	.	0.145	0.32079	B	.;.	.;.	2.430959	0.31276	18.69	0.98311203731865371	0.40144	0.90728	0.52149	D	AEFBI	0.674669	0.64031	D	-0.19537441121222	0.33327	1.889465	-0.00219818898038289	0.39616	2.351646	0.718570249897726	0.22904	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.81	4.89	0.63387	4.505000	0.60141	1.786000	0.28758	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.369000	0.26088	0.3748:0.6252:0.0:0.0	11.353	0.48837	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	33.98	84	chr4	78421883	.	C	G	33.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.060e+00;DP=985;ExcessHet=0.0000;FS=40.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=1.54;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,13:93:48:0|1:78421883_C_G:48,0,3163:78421883	20	0	1	0
chr4	83295427	83295427	G	A	exonic	HPSE	.	nonsynonymous SNV	HPSE:NM_001166498:exon11:c.C1327T:p.R443W	.	.	430	1086	4	2	0	8	0.00366972	.	.	2355865	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.841	P	0.129	N	0.993	N	2.045	M	0.88	T	-0.876	T	0.185	T	0.241	3.093	16.33	3.5	1.482	0.157	2.851	0.101	0.0196557752655	.	0.000199681	0.0001	9.617e-05	0	0.0013	0	2.998e-05	0	0.0002	0.0001229	19	154602	rs200924614	6.776e-05	6.772e-05	5.993e-05	7.567e-05	0.0009	5.673e-05	5.264e-05	0.0007	0.0006	0.0002	0	0	0.0009	0	0.0003	1.44e-05	0.0002	0.0003	7.88e-05	7.875e-05	6.425e-05	9.401e-05	0.0015	4.494e-05	3.51e-05	0.0008	0.0006	2.407e-05	0	0	0	0.0015	0	0	0	0	0.0006	0.096	0.40068	T	0.018	0.59732	D	0.997	0.70673	D	0.517	0.48105	P	0.128609	0.18724	N	0.611242	0.994618	0.23822	N	2.595	0.75868	M	0.85	0.47130	T	-3.28	0.67705	D	0.18	0.36884	-0.8765	0.50036	T	0.185	0.53481	T	10	0.026233643	0.00795	T	0.019656	0.42079	T	0.101	0.28911	.	.	0.394837016283	0.39092	0.5806748098832951	0.57996	0.296062648585	0.31993	0.267074882984	0.05762	T	0.807378	0.95150	D	-0.455078	0.01054	T	-0.472016	0.25300	T	0.204982529697773	0.20688	T	0.924208	0.73726	D	0.22994377	0.45740	0.168974	0.38898	0.22994377	0.45740	0.168974	0.38897	-6.56	0.50747	T	.	.	0.107	0.28892	B	.;.;.;.	.;.;.;.	4.062378	0.60295	24.2	0.99818157903624316	0.90150	0.12602	0.17368	N	AEFI	0.350268	0.44377	N	0.169678926810169	0.49746	3.171634	0.0946756179637461	0.44280	2.712865	0.340013422276003	0.19574	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.39	3.5	0.39181	0.157000	0.16219	4.513000	0.43656	0.616000	0.49467	0.573000	0.27530	1.000000	0.68203	0.970000	0.54328	0.0903:0.1585:0.4223:0.3289	2.851	0.05215	798	0.45050	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1232.98	36	chr4	83295427	.	G	A	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=810;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-7.360e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/1:64,52:116:99:1247,0,1328	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:97,72,0:169:99:1388,0,3549,1683,3765,5448	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:143,0,102:247:99:1|0:87615716_TAGTGACAGCAGCAATAGC_T:3525,3529,9410,0,5643,5192:87615716	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:144,0,102:248:99:1|0:87615716_TAGTGACAGCAGCAATAGC_T:3517,3474,9194,0,5621,5218:87615716	0	2	2	0
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,42,0:156:99:0|1:87615911_A_C:1360,0,4660,1704,4787,6490:87615911	0	3	4	9
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,33,0:153:99:0|1:87615911_A_C:861,0,4948,1222,5039,6261:87615911	0	3	5	9
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,28,0:151:99:0|1:87615911_A_C:724,0,5026,1094,5106,6200:87615911	1	4	4	8
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,22,0:149:99:0|1:87615911_A_C:542,0,5092,924,5159,6083:87615911	0	3	5	9
chr4	88046767	88046767	T	G	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon6:c.T1445G:p.F482C,	Polycystic kidney disease 2	YES	4	1474	41	3	0	47	0.0156928	.	.	221477	not_specified|Autosomal_dominant_polycystic_kidney_disease|Polycystic_kidney_disease|Polycystic_kidney_disease_2|not_provided	MedGen:CN169374|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.519	P	0.586	P	0.001	D	1.000	D	0.895	L	-0.47	T	-0.359	T	0.340	T	0.444	3.759	19.08	5.61	2.130	6.099	15.800	0.185	0.174648661368	0.0024	0.000998403	0.0021	0.0002	0.0018	0	0.0005	0.0032	0.0022	0.0010	0.0020698	320	154602	rs75762896	0.0022	0.0022	0.0022	0.0022	0.0311	0.0021	0.0021	0.0274	0.0259	0.0007	0.0019	0.0095	0	0.0002	0.0311	0.0021	0.0034	0.0012	0.0018	0.0018	0.0020	0.0017	0.0025	0.0017	0.0016	0.0021	0.0020	0.0005	0	0.0025	0.0095	0	0.0002	0.0170	0.0024	0.0057	0.0014	0.005	0.63226	D	0.012	0.63918	D	0.519	0.37512	P	0.586	0.50343	P	0.000986	0.40743	D	0.256644	0.937535	0.81001	D	1.39	0.34934	L	-0.47	0.70133	T	-1.31	0.32791	N	0.366	0.40765	-0.3586	0.73305	T	0.340	0.70575	T	10	0.013403147	0.00284	T	0.174649	0.85097	D	0.185	0.45933	.	.	0.275349458131	0.27150	0.7992809757317741	0.79881	0.628865736307	0.56943	0.429157376289	0.29093	T	0.284679	0.65746	T	-0.300048	0.08654	T	-0.209322	0.53761	T	0.0306232327871647	0.02086	T	0.80282	0.44919	T	0.22798562	0.45510	0.15149388	0.35683	0.32848933	0.55347	0.19268322	0.42796	-7.815	0.59802	D	0.23977873573515104	0.32479	0.088	0.11749	B	.	.	4.653233	0.74191	26.1	0.99382475913230373	0.61935	0.97013	0.72187	D	AEFBI	0.775507	0.70890	D	0.341962011717758	0.58317	4.003165	0.450285093661695	0.64736	4.73565	0.999999796872556	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	6.082000	0.70966	7.856000	0.71202	0.663000	0.56723	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.800	0.78216	489	0.76795	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.04762	2244.11	102	chr4	88046767	.	T	G	2244.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.200e-02;DP=888;ExcessHet=0.1072;FS=5.382;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=1.76;SOR=0.708	GT:AD:DP:GQ:PL	0/1:69,61:130:99:1319,0,1612	19	0	2	0
chr4	89912002	89912002	G	A	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon3:c.G802A:p.D268N	.	.	.	.	.	.	.	.	.	.	.	2335860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.435	B	0.185	B	0.015	N	0.980	N	0.55	N	0.98	T	-0.942	T	0.134	T	0.259	3.128	16.46	3.37	0.794	2.916	9.267	0.021	0.0252644475801	0.0008	0.000599042	0.0008	9.762e-05	0.0006	0	0.0002	0.0014	0	0.0001	0.0008538	132	154602	rs142127543	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0017	0.0017	0.0003	0.0006	0.0028	0	5.63e-05	0	0.0018	0.0011	3.524e-05	0.0012	0.0012	0.0014	0.0010	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0013	0.0038	0	0	0.0034	0.0020	0.0033	0	0.003	0.68238	D	0.019	0.65728	D	0.285	0.32186	B	0.185	0.36047	B	0.015169	0.28322	N	0.334685	0.99076	0.25139	N	1.15	0.29295	L	0.98	0.65378	T	-1.51	0.36787	N	0.54	0.56748	-0.9415	0.42378	T	0.134	0.44720	T	10	0.02394855	0.00643	T	0.025264	0.48245	D	0.021	0.04004	.	.	0.629969601443	0.62694	0.2765121263735884	0.27564	0.0216506402081	0.02158	0.44044393301	0.30636	T	0.09991	0.43057	T	-0.369475	0.03621	T	-0.322516	0.42298	T	0.0177909948238896	0.00508	T	0.881612	0.60121	D	0.17925742	0.38987	0.15039742	0.35470	0.17925742	0.38987	0.15039742	0.35470	-4.531	0.31292	T	.	.	0.158	0.47827	B	.;.;.	.;.;.	3.372122	0.46602	22.3	0.99771566314384019	0.85918	0.87578	0.47163	D	AEFBI	0.344255	0.43980	N	-0.176085917725651	0.34133	1.944545	-0.0718243907107429	0.36561	2.12923	0.597770625437228	0.21700	0.67177	0.52595	0	0.573888	0.26702	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.15	3.37	0.37692	2.974000	0.48964	7.590000	0.61220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.075:0.0:0.7812:0.1438	9.267	0.36810	871	0.31377	EMI domain|EMI domain;EMI domain|EMI domain;EMI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	34	chr4	89912002	.	G	A	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=816;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-2.459e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1261,0,1168	20	0	1	0
chr4	101196010	101196010	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G165C:p.R55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.982	D	0.000	D	1.000	D	3.525	H	3.38	T	0.145	D	0.589	D	0.953	2.042	12.78	2.0	-0.059	-0.164	10.653	0.542	0.353534218001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.017	0.83351	D	0.998	0.73220	D	0.966	0.71341	D	0.000004	0.62929	D	0.056881	0.999911	0.81001	D	3.325	0.90780	M	3.38	0.70365	T	-3.07	0.88065	D	0.939	0.94550	0.145	0.84969	D	0.589	0.85259	D	10	0.5369051	0.63499	D	0.353534	0.92331	D	0.542	0.80901	0.434	0.48500	0.966502697184	0.96614	0.9224824476460386	0.92225	2.40020819914	0.97175	0.78887450695	0.80271	T	0.798026	0.94820	D	0.316579	0.84226	D	0.216967	0.84021	D	0.9861741065979	0.76962	D	0.997517	0.98983	D	0.96387434	0.97668	0.8698088	0.92852	0.96387434	0.97668	0.8698088	0.92853	-3.337	0.99288	T	0.927214547401517	0.96958	0.982	0.97319	P	.;.;.;.;.;.	.;.;.;.;.;.	2.607304	0.33856	19.46	0.98219283723808459	0.39281	0.55150	0.29792	D	AEFBI	0.165597	0.29210	N	0.14515803016552	0.48582	3.068794	0.0200804544599741	0.40649	2.429266	0.99974081000684	0.42466	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.0	0.25495	-0.541000	0.06187	0.576000	0.19656	-0.172000	0.11096	0.180000	0.24064	0.998000	0.33993	0.994000	0.71098	0.0:0.5748:0.0:0.4252	10.653	0.44850	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	197.31	173	chr4	101196010	.	C	G	197.31	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.836e+00;DP=1770;ExcessHet=0.1072;FS=168.437;InbreedingCoeff=-0.0910;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.644;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,26:117:99:0|1:101196010_C_G:134,0,3105:101196010	16	0	2	3
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.988	D	0.000	D	1.000	D	3.525	H	3.41	T	0.511	D	0.660	D	0.889	3.815	19.37	5.65	2.824	7.496	19.084	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	534.79	173	chr4	101196011	.	C	G	534.79	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.373e+00;DP=2716;ExcessHet=1.1607;FS=204.564;InbreedingCoeff=-0.4002;MLEAC=9;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.07;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,26:117:99:0|1:101196010_C_G:134,0,3105:101196010	2	0	5	14
chr4	101196015	101196015	C	T	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G160A:p.G54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.555	H	3.36	T	0.428	D	0.620	D	0.913	3.976	20.4	5.65	2.824	7.496	19.084	0.546	0.357644531789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000059	0.53742	D	0.123284	0.998229	0.81001	D	3.34	0.90961	M	3.36	0.69287	T	-3.81	0.95842	D	0.816	0.81261	0.428	0.89507	D	0.620	0.86597	D	10	0.8419089	0.83347	D	0.357645	0.92431	D	0.546	0.81135	0.377	0.39156	0.864176412091	0.86286	0.9159854526096978	0.91573	2.47311793574	0.97507	0.874480307102	0.93203	D	0.801841	0.94956	D	0.38785	0.89198	D	0.319343	0.89062	D	0.996576365644164	0.89629	D	0.999394	0.99801	D	0.9461721	0.95876	0.856816	0.91963	0.9461721	0.95876	0.856816	0.91963	-3.186	0.92607	T	0.8000097979291737	0.87694	0.993	0.98907	P	.;.;.;.;.;.	.;.;.;.;.;.	4.625357	0.73491	26.0	0.99886075615728065	0.96126	0.97928	0.78194	D	AEFBI	0.904937	0.85584	D	1.01926601861206	0.96308	14.53905	0.951211567613319	0.97440	16.13271	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	120.14	37	chr4	101196015	.	C	T	120.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.324e+00;DP=1755;ExcessHet=0.0000;FS=187.820;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.71;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,25:115:99:0|1:101196010_C_G:130,0,3045:101196010	16	0	1	4
chr4	113353453	113353453	C	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.C4835T:p.T1612I,	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	188391	Cardiac_arrhythmia,_ankyrin-B-related|not_specified|not_provided|Long_QT_syndrome	MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.261	B	0.029	B	0.916	N	1.000	N	0.895	L	0.01	T	-0.997	T	0.152	T	0.165	0.032	4.179	1.51	0.192	0.806	5.334	0.052	0.00853604784637	.	.	3.313e-05	0	0	0	0	6.022e-05	0	0	2.59e-05	4	154602	rs765274871	3.215e-05	3.215e-05	2.723e-05	3.713e-05	0.0045	2.478e-05	2.221e-05	0.0032	0.0027	0	0	0	0	0	0.0045	1.349e-05	9.935e-05	0	3.942e-05	3.937e-05	0	8.062e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.408e-05	0	0.0001	0	0	0	0	2.941e-05	0.0005	0	0.126	0.28646	T	0.224	0.26306	T	.	.	.	.	.	.	0.916476	0.08517	N	0.957023	1	0.08975	N	1.905	0.50856	L	0.01	0.67011	T	-1.41	0.40082	N	0.045	0.01740	-0.9971	0.30728	T	0.152	0.48084	T	10	0.07478729	0.11477	T	0.008536	0.22581	T	0.052	0.14661	.	.	0.371749281113	0.36790	0.22980360053611187	0.22895	0.0841933520624	0.09501	0.286879897118	0.08470	T	0.292698	0.66542	T	-0.267531	0.12033	T	-0.44177	0.28610	T	0.0188347601722691	0.00594	T	0.680232	0.30012	T	0.1392568	0.32175	0.09019861	0.21137	0.1392568	0.32174	0.09019861	0.21137	-3.74	0.19910	T	0.13059851143727447	0.13753	0.106	0.19559	B	.;.;.;.	.;.;.;.	1.110219	0.14954	11.47	0.9309487935157662	0.22720	0.30326	0.24053	N	AEFBI	0.264846	0.38210	N	-0.734172762471051	0.15066	0.7560341	-0.731596293770594	0.16175	0.854443	0.993234356860721	0.33136	0.57788	0.32782	0	0.593476	0.48661	0	0.670488	0.60580	0	0.542086	0.14980	0	.	.	5.4	1.51	0.22094	0.917000	0.28286	0.851000	0.22138	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.3622:0.4543:0.1172:0.0663	5.334	0.15255	648	0.63242	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1646.98	34	chr4	113353453	.	C	T	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.170e-01;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=2.40;SOR=0.664	GT:AD:DP:GQ:PL	0/1:53,73:126:99:1661,0,1113	20	0	1	0
chr4	118338294	118338294	C	T	exonic	PRSS12	.	nonsynonymous SNV	PRSS12:NM_003619:exon2:c.G523A:p.G175S,	Mental retardation, autosomal recessive 1, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	207102	PRSS12-related_disorder|Intellectual_disability,_autosomal_recessive_1|not_specified|not_provided	.|MONDO:MONDO:0009580,MedGen:C1855304,OMIM:249500,Orphanet:88616|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.955	P	0.506	P	0.000	D	0.871	D	2.195	M	0.39	T	-0.647	T	0.148	T	0.257	3.714	18.86	4.51	1.255	2.227	12.535	0.257	0.0576085909179	0.0021	0.00279553	0.0021	0.0061	0.0024	0	0.0003	0.0020	0.0045	0.0016	0.0020116	311	154602	rs145151396	0.0015	0.0015	0.0015	0.0016	0.0085	0.0015	0.0015	0.0066	0.0059	0.0051	0.0025	0.0003	0	0.0004	0.0085	0.0014	0.0021	0.0026	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0041	0.0039	0.0047	0	0.0037	0.0006	0	0.0004	0.0102	0.0019	0.0085	0.0015	0.135	0.26192	T	0.153	0.32144	T	0.955	0.54515	P	0.506	0.47823	P	0.000000	0.84330	D	0.043981	0.871458	0.35571	D	1.94	0.52218	M	0.39	0.57419	T	-3.32	0.66085	D	0.459	0.49602	-0.6475	0.62823	T	0.148	0.47451	T	10	0.010552824	0.00234	T	0.057609	0.67028	D	0.257	0.56827	.	.	0.701269253602	0.69868	0.7165600655479207	0.71599	0.541306599398	0.51292	0.339531034231	0.16368	T	0.195372	0.55143	T	-0.436281	0.01360	T	-0.397683	0.33653	T	0.0364894784524041	0.03067	T	0.743426	0.36288	T	0.24946946	0.47941	0.17024039	0.39118	0.21671711	0.44137	0.16610642	0.38390	-6.266	0.48453	T	.	.	0.090	0.12418	B	.	.	2.795842	0.36766	20.3	0.99489805958635746	0.67403	0.79352	0.39305	D	AEFDBCI	0.372233	0.45796	N	-0.06526069059704	0.38923	2.287261	-0.148774829113755	0.33455	1.913908	0.999999920958629	0.74766	0.740787	0.97801	0	0.588015	0.36545	0	0.709663	0.75317	0	0.673998	0.66042	0	.	.	5.35	4.51	0.54589	2.086000	0.41268	0.488000	0.18872	-0.249000	0.07183	0.999000	0.42656	0.070000	0.22201	0.099000	0.18236	0.0:0.9219:0.0:0.0781	12.535	0.55483	944	0.12746	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2864.11	33	chr4	118338294	.	C	T	2864.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.754;DP=881;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=1.10;SOR=0.724	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1287,0,962	19	0	2	0
chr4	119031018	119031018	G	T	exonic	SYNPO2	.	nonsynonymous SNV	SYNPO2:NM_001128933:exon4:c.G2243T:p.S748I	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	B	0.018	B	0.730	N	1.000	N	0.805	L	2.96	T	-0.972	T	0.019	T	0.254	-0.402	2.119	3.57	1.284	1.780	6.047	0.030	0.015349795521	.	0.000399361	0.0001	0	8.64e-05	0	0	0	0	0.0010	0.00011	17	154602	rs537882356	6.772e-05	6.772e-05	3.131e-05	0.0001	0.0011	5.67e-05	5.26e-05	0.0009	0.0009	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0011	5.914e-05	5.907e-05	3.858e-05	8.063e-05	0.0017	3.078e-05	2.21e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.471e-05	0	0.0017	0.108	0.29420	T	0.11	0.41074	T	0.065	0.23521	B	0.018	0.18489	B	0.729853	0.09864	N	0.873486	0.999999	0.20249	N	0.625	0.15840	N	2.96	0.09542	T	-2.12	0.48184	N	0.128	0.13911	-0.9722	0.36734	T	0.019	0.07939	T	9	0.0074926615	0.00170	T	0.01535	0.36031	T	0.030	0.07022	0.255	0.19533	0.0675242888579	0.06100	0.2504468631828171	0.24958	0.094583282972	0.10679	0.449157118797	0.31828	T	0.023989	0.18210	T	-0.535247	0.00358	T	-0.592062	0.13488	T	0.0229257125004156	0.01014	T	0.718228	0.36937	T	0.09335439	0.21924	0.116317995	0.28080	0.09335439	0.21924	0.116317995	0.28080	-9.726	0.72541	D	.	.	0.156	0.35931	B	.;.;.;.	.;.;.;.	1.667511	0.21262	15.12	0.79334927266339106	0.12695	0.22424	0.21741	N	AEFBI	0.329347	0.42972	N	-0.720909159265025	0.15435	0.7778142	-0.698848725545541	0.16989	0.9013395	0.999977825286422	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.41	3.57	0.40014	1.838000	0.38851	4.945000	0.46240	0.676000	0.76740	0.027000	0.20232	0.991000	0.31484	0.414000	0.27095	0.0769:0.2666:0.5442:0.1123	6.047	0.18990	577	0.69927	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1275.98	36	chr4	119031018	.	G	T	1275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.574;DP=1214;ExcessHet=0.0000;FS=4.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=1.73;SOR=0.679	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1290,0,1466	20	0	1	0
chr4	121045705	121045705	C	T	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon2:c.G133A:p.V45I,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.043	B	0.025	B	0.000	D	1.000	D	1.385	L	.	.	-0.924	T	0.177	T	0.332	2.572	14.56	4.87	2.717	5.562	15.126	0.280	0.00263107353969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.12837	T	0.887	0.92824	T	0.043	0.21573	B	0.025	0.20508	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.835	0.48228	L	.	.	.	-0.18	0.12283	N	0.364	0.40565	-0.9237	0.45041	T	0.177	0.52209	T	9	0.25368458	0.42738	T	0.002631	0.05349	T	0.280	0.59740	0.174	0.08014	0.537125817887	0.53363	0.18076615866330406	0.17995	0.136887808909	0.15440	0.648438453674	0.59764	T	0.028273	0.20519	T	-0.0436997	0.45400	T	-0.300548	0.44667	T	0.785098791122437	0.45371	D	0.775222	0.40690	T	0.11365236	0.26840	0.07460096	0.16336	0.11365236	0.26840	0.07460096	0.16336	-3.705	0.19392	T	.	.	0.073	0.07554	B	.;.;.	.;.;.	2.464038	0.31747	18.83	0.98914586170109975	0.48436	0.95866	0.66491	D	AEFI	0.604146	0.59536	D	0.0135445330183992	0.42470	2.559568	0.20223544383437	0.49971	3.194165	0.999962910084428	0.48965	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	4.87	0.62877	5.608000	0.67336	2.144000	0.30864	0.599000	0.40250	1.000000	0.71638	0.975000	0.29991	0.992000	0.67800	0.0:0.9313:0.0:0.0687	15.126	0.72162	836	0.38045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1399.98	42	chr4	121045705	.	C	T	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.340e-01;DP=903;ExcessHet=0.0000;FS=4.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.67;SOR=0.649	GT:AD:DP:GQ:PL	0/1:50,62:112:99:1414,0,1095	20	0	1	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.921	T	0.161	T	0.943	3.733	18.96	1.26	-0.003	2.018	9.093	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	374.38	39	chr4	127704251	.	G	C	374.38	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.953e+00;DP=1018;ExcessHet=1.1607;FS=220.307;InbreedingCoeff=-0.1538;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.794;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,41:127:99:.:.:166,0,1399	15	0	5	1
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	729.72	57	chr4	134199956	.	C	T	729.72	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.043e+00;DP=1459;ExcessHet=4.7172;FS=120.348;InbreedingCoeff=-0.3900;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=-2.920e-01;SOR=8.830	GT:AD:DP:GQ:PL	0/1:76,19:95:13:13,0,1151	7	0	9	5
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:1,46,0:50:97:2026,97,0,2032,142,2090	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:1,46,0:50:97:2026,97,0,2032,142,2090	0	20	0	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,19:76:99:0|1:140563137_C_G:201,0,1632:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,19:76:99:0|1:140563137_C_G:201,0,1632:140563137	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,107,0:107:99:.:.:3084,320,0,3084,320,3084	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	3/3:0,0,0,156,0:161:99:6924,6930,7079,6930,7079,7079,474,505,505,0,6930,7079,7079,505,7079	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	3/3:0,0,0,156,0:161:99:6924,6930,7079,6930,7079,7079,474,505,505,0,6930,7079,7079,505,7079	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	3/3:0,0,0,156,0:161:99:6924,6930,7079,6930,7079,7079,474,505,505,0,6930,7079,7079,505,7079	0	10	4	0
chr4	176160948	176160948	C	T	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon19:c.C2531T:p.S844F	.	.	442	1077	3	0	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.007	B	0.016	N	0.968	N	1.01	L	0.2	T	-0.959	T	0.103	T	0.366	1.813	12.02	3.88	2.606	3.893	13.792	0.076	0.0151065851596	0.0037	0.000798722	0.0027	0.0008	0.0007	0	0.0045	0.0041	0	0.0004	0.0029236	452	154602	rs147272076	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0055	0.0055	0.0006	0.0010	0.0002	2.527e-05	0.0042	0.0016	0.0056	0.0042	0.0004	0.0033	0.0033	0.0035	0.0032	0.0056	0.0031	0.0030	0.0051	0.0050	0.0010	0.0011	0.0015	0	0	0.0058	0.0034	0.0056	0.0009	0	0.097	0.32141	T	0.171	0.30436	T	0.005	0.12996	B	0.007	0.12992	B	0.016386	0.27990	N	0.373166	0.968317	0.25807	N	1.745	0.45235	L	0.16	0.60854	T	-2.48	0.54059	N	0.271	0.33687	-0.9592	0.39330	T	0.103	0.37994	T	10	0.005960971	0.00134	T	0.015107	0.35650	T	0.076	0.22200	.	.	0.891060594775	0.88998	0.37475044475621455	0.37389	0.114889616539	0.12965	0.376848697662	0.21809	T	0.021153	0.16521	T	-0.379643	0.03132	T	-0.315078	0.43111	T	0.0120658571521454	0.00191	T	0.807619	0.45757	T	0.12978336	0.30302	0.14031762	0.33451	0.12978336	0.30302	0.14031762	0.33450	-7.584	0.59022	D	.	.	0.107	0.20196	B	.;.;.	.;.;.	2.779414	0.36502	20.3	0.89495736102731338	0.18846	0.83866	0.42959	D	AEFI	0.241124	0.36279	N	-0.371410943146938	0.26492	1.446293	-0.312986849446991	0.27679	1.537601	0.992070369991738	0.32709	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.73	3.88	0.43959	4.187000	0.58142	3.980000	0.40897	0.599000	0.40250	0.802000	0.29747	0.281000	0.24108	0.228000	0.22680	0.0:0.9213:0.0:0.0787	13.792	0.62637	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1255.98	33	chr4	176160948	.	C	T	1255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.673;DP=853;ExcessHet=0.0000;FS=1.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-3.330e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/1:69,57:126:99:1270,0,1593	20	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,13:100:9:0|1:176711629_G_C:9,0,3372:176711629	12	0	9	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,13:100:9:0|1:176711629_G_C:9,0,3372:176711629	6	0	11	4
chr4	183674771	183674771	G	A	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon6:c.G619A:p.V207M	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	.	449	1071	2	0	0	2	0.000932836	.	.	563623	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.958	D	0.000	D	1.000	D	2.485	M	.	.	-0.104	T	0.515	D	0.86	5.449	35	5.94	2.807	7.846	20.359	0.642	0.0085678916885	.	0.000199681	8.285e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs201181808	1.456e-05	1.573e-05	1.793e-05	1.115e-05	1.809e-05	9.36e-06	7.94e-06	1.182e-05	9.6e-06	0	0	0	0	0	0	1.809e-05	0	1.217e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.002	0.72154	D	0.006	0.70582	D	0.998	0.77913	D	0.858	0.70027	P	0.000010	0.62929	D	0.109669	1	0.81001	D	2.215	0.62545	M	.	.	.	-2.42	0.53096	N	0.81	0.81162	-0.1042	0.80002	T	0.515	0.81835	D	9	0.7756665	0.77438	D	0.008568	0.22655	T	0.642	0.86384	.	.	0.565975473979	0.56261	0.6224218247981242	0.62175	0.458982957277	0.45497	0.868730247021	0.92386	D	0.244772	0.61396	T	0.314946	0.84109	D	0.32468	0.89288	D	0.869926571846008	0.51985	D	0.968003	0.88371	D	0.32241523	0.54843	0.4253463	0.66346	0.32241523	0.54843	0.4253463	0.66346	-10.134	0.74710	D	0.8403159146604614	0.90899	0.823	0.78398	P	.;.	.;.	4.803346	0.78067	26.8	0.99893749757741279	0.96742	0.97910	0.78054	D	AEFGBI	0.869602	0.79021	D	0.856438079296105	0.89471	9.985738	0.853800972483739	0.93237	11.91123	0.99999999999831	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	7.972000	0.87634	11.687000	0.94301	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.359	0.98850	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	33	chr4	183674771	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=788;ExcessHet=0.0000;FS=2.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-6.420e-01;SOR=0.439	GT:AD:DP:GQ:PL	0/1:52,38:90:99:824,0,1152	20	0	1	0
chr4	186149654	186149654	A	G	exonic	FAM149A	.	nonsynonymous SNV	FAM149A:NM_001367768:exon3:c.A739G:p.T247A,	.	.	435	1062	24	1	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	0.000	N	1.000	D	.	.	2.6	T	-1.044	T	0.029	T	0.138	0.773	8.085	3.0	0.462	2.391	9.377	0.039	0.00990703676183	.	0.000399361	0.0031	0	0	0	0	0.0096	0	0.0007	0.0004916	76	154602	rs201889401	0.0013	0.0010	0.0013	0.0013	0.0243	0.0012	0.0012	0.0206	0.0192	0.0009	0.0007	0.0181	0	0.0002	0.0243	0.0009	0.0033	0.0007	0.0011	0.0011	0.0011	0.0012	0.0009	0.0010	0.0009	0.0007	0.0007	0.0003	0	0.0008	0.0190	0	9.418e-05	0.0408	0.0009	0.0028	0.0002	0.204	0.20078	T	0.115	0.36630	T	.	.	.	.	.	.	0.000294	0.46274	N	0.090016	0.546147	0.81001	D	1.525	0.38595	L	2.6	0.13204	T	-1.56	0.37759	N	0.179	0.19325	-1.0438	0.16177	T	0.029	0.12541	T	7	0.0049763024	0.00107	T	0.009907	0.25811	T	0.039	0.10176	.	.	0.297718772494	0.29385	.	.	.	.	.	.	.	0.011487	0.10242	T	-0.581265	0.00189	T	-0.648256	0.09077	T	0.0354920643922334	0.02892	T	0.537046	0.18049	T	0.09970784	0.23535	0.10389788	0.24941	0.09970784	0.23535	0.10389788	0.24940	-3.579	0.17553	T	.	.	0.067	0.02548	B	.	.	0.988500	0.13663	10.20	0.83580940745577437	0.14805	0.72601	0.35530	D	AEFDBCI	0.285858	0.39839	N	-0.202842861560968	0.33017	1.868527	-0.218034726811474	0.30889	1.743183	0.995565874947447	0.34196	0.533608	0.22052	0	0.61073	0.52368	0	0.26897	0.05253	2	0.584449	0.35598	0	.	.	5.41	3.0	0.33773	2.482000	0.44883	1.511000	0.27024	0.751000	0.87719	0.988000	0.36536	0.377000	0.24597	0.007000	0.07825	0.8536:0.0:0.1464:0.0	9.377	0.37448	689	0.59000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1252.98	34	chr4	186149654	.	A	G	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.700e-01;DP=810;ExcessHet=0.0000;FS=1.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-1.387e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1267,0,1411	20	0	1	0
chr4	186618560	186618560	C	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.G8026C:p.V2676L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.01	B	0.018	B	0.007	N	1.000	N	1.19	L	0.72	T	-1.027	T	0.089	T	0.185	0.222	5.196	1.12	0.058	0.245	10.379	0.043	0.00733828304228	.	0.000199681	3.314e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs557631884	9.578e-06	9.577e-06	2.723e-06	1.65e-05	0.0002	5.56e-06	4.35e-06	7.997e-05	6.236e-05	0	0	0	0	0	0.0002	0	1.656e-05	0.0001	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.167	0.23095	T	0.162	0.31225	T	0.01	0.15535	B	0.018	0.18489	B	0.007045	0.31632	N	0.341183	1	0.08975	N	0.985	0.24966	L	0.72	0.50976	T	-0.64	0.18670	N	0.264	0.29889	-1.0270	0.21429	T	0.089	0.34298	T	10	0.09311214	0.16451	T	0.007338	0.19469	T	0.043	0.11576	0.664	0.80199	0.149567049428	0.14543	0.23989042883634787	0.23903	0.0990663541488	0.11194	0.234075695276	0.02283	T	0.080837	0.36457	T	-0.408768	0.02025	T	-0.532795	0.19008	T	0.023543945489451	0.01088	T	0.905909	0.66829	D	0.026692702	0.01759	0.04272596	0.05155	0.026692702	0.01759	0.04272596	0.05155	-4.78	0.34357	T	.	.	0.114	0.22680	B	.;.	.;.	0.662593	0.10309	7.041	0.86493663700079793	0.16573	0.24148	0.22303	N	AEFBCI	0.178402	0.30567	N	-1.01412642813013	0.08310	0.3891959	-0.9720319844962	0.10417	0.5244832	0.989236500070531	0.31763	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.09	1.12	0.19700	0.305000	0.19006	0.266000	0.16602	-0.898000	0.02344	0.001000	0.13787	0.001000	0.17328	0.552000	0.30221	0.0:0.505:0.0:0.495	10.379	0.43284	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1133.98	125	chr4	186618560	.	C	G	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.820e-01;DP=1747;ExcessHet=0.0000;FS=0.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.308e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1148,0,876	20	0	1	0
chr4	189953067	189953067	G	-	splicing	FRG1	NM_004477:exon4:c.260-1G>-	.	.	.	.	163	1297	62	0	0	62	0.0233434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265231392	9.088e-05	0.0008	7.134e-05	0.0001	0.0010	7.78e-05	7.313e-05	0.0007	0.0006	0.0010	0.0007	0.0001	0.0002	0	0.0005	9.121e-06	5.156e-05	0.0006	0.0002	0.0035	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0005	0.0009	0	6.595e-05	0	0	0	0	2.945e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	777.73	8	chr4	189953066	.	AG	A	777.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=498;ExcessHet=0.3300;FS=2.572;InbreedingCoeff=-0.0692;MLEAC=2;MLEAF=0.048;MQ=52.25;MQRankSum=-3.324e+00;QD=5.33;ReadPosRankSum=1.01;SOR=0.911	GT:AD:DP:GQ:PL	0/1:89,27:116:99:727,0,3243	18	0	3	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:299,52:351:99:337,0,8460	12	0	9	0
chr5	163346	163346	G	A	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon13:c.G3274A:p.D1092N,	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.913	P	0.12	B	.	.	1.000	N	0.695	N	1.47	T	-1.030	T	0.031	T	0.052	0.148	4.797	0.086	-0.474	4.100	5.254	0.168	0.0018484280449	0.0002	0.000998403	0.0007	9.703e-05	0.0003	0.0005	0.0002	0.0005	0.0011	0.0029	0.0007374	114	154602	rs115564310	0.0005	0.0005	0.0005	0.0006	0.0033	0.0005	0.0005	0.0030	0.0029	0.0003	0.0005	3.826e-05	0.0003	0.0002	0.0002	0.0004	0.0005	0.0033	0.0004	0.0004	0.0003	0.0005	0.0031	0.0003	0.0003	0.0019	0.0015	0.0004	0	0.0003	0	0.0008	9.409e-05	0	0.0003	0.0005	0.0031	0.005	0.63226	D	0.322	0.19016	T	0.913	0.50474	P	0.12	0.32230	B	.	.	.	.	0.999694	0.20667	N	1.04	0.26193	L	1.47	0.31987	T	-1.62	0.38924	N	0.099	0.08088	-1.0302	0.20390	T	0.031	0.13286	T	9	0.008468837	0.00192	T	0.001848	0.03219	T	0.168	0.42943	.	.	0.202086224978	0.19791	0.30481180876120373	0.30394	0.252953588297	0.27862	0.441431999207	0.30773	T	0.016338	0.13527	T	-0.605138	0.00136	T	-0.646942	0.09171	T	0.0555186064451544	0.06445	T	0.606739	0.22845	T	0.06872205	0.14994	0.056140784	0.09978	0.06872205	0.14994	0.056140784	0.09978	-4.019	0.24087	T	.	.	0.129	0.27702	B	.;.	.;.	1.382081	0.17934	13.45	0.9277858803814264	0.22294	0.64416	0.32400	D	AEFDGBCI	0.246821	0.36750	N	-0.882564931066548	0.11257	0.5422848	-0.959273630952297	0.10708	0.541073	0.99738141751726	0.35561	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	3.14	0.086	0.13755	4.258000	0.58617	0.538000	0.19308	-1.070000	0.01595	1.000000	0.71638	0.000000	0.08366	0.023000	0.12082	0.1274:0.4048:0.4678:0.0	5.254	0.14855	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	981.98	82	chr5	163346	.	G	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=995;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=0.929;SOR=0.641	GT:AD:DP:GQ:PL	0/1:58,44:102:99:996,0,1160	20	0	1	0
chr5	1219618	1219618	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon10:c.G1492A:p.A498T,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	1497764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.987	D	0.73	P	0.000	D	1.000	D	2.795	M	-1.03	T	0.374	D	0.591	D	0.523	4.309	22.6	4.83	2.221	9.590	17.902	0.619	0.319502544955	.	.	1.658e-05	0	0	0.0001	0	1.513e-05	0	0	1.29e-05	2	154602	rs768027310	2.196e-05	2.463e-05	2.322e-05	2.068e-05	0.0005	1.589e-05	1.36e-05	0.0001	7.541e-05	2.987e-05	0	0	0.0002	0	0.0005	1.799e-05	1.657e-05	0	1.314e-05	1.313e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	0.987	0.61912	D	0.73	0.55268	P	0.000038	0.55875	D	0.156215	0.999999	0.58761	D	2.94	0.84723	M	-1.03	0.76430	T	-3.25	0.65283	D	0.632	0.64563	0.374	0.88704	D	0.591	0.85386	D	10	0.803235	0.79696	D	0.319503	0.91431	D	0.619	0.85196	0.59	0.71874	0.817938731251	0.81622	0.7926223500639376	0.79215	0.752232820691	0.63832	0.608774781227	0.54143	T	0.478554	0.80832	T	-0.103341	0.35872	T	-0.0940698	0.63853	T	0.937600314617157	0.60751	D	0.965203	0.87125	D	0.68819857	0.77414	0.6781067	0.81092	0.68819857	0.77415	0.6781067	0.81093	-9.326	0.69770	D	0.34255454008449604	0.44022	0.566	0.67484	P	.	.	5.116896	0.85570	28.6	0.99878811461485728	0.95572	0.98722	0.86019	D	AEFBI	0.946808	0.95666	D	0.641284231116063	0.75806	6.371489	0.551821057242069	0.71524	5.667985	0.999999999999976	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.83	4.83	0.61880	9.722000	0.98003	9.806000	0.81721	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	17.902	0.88826	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1049.98	45	chr5	1219618	.	G	A	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.990e-01;DP=806;ExcessHet=0.0000;FS=4.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=1.00;SOR=0.352	GT:AD:DP:GQ:PL	0/1:31,46:77:99:1064,0,645	20	0	1	0
chr5	7862999	7862999	-	A	splicing	FASTKD3	NM_024091:exon4:c.1525-2->T	.	.	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00219649	0.0050	0.0019	0.0027	0	0.0011	0.0066	0.0066	0.0059	0.000207	32	154602	rs546325772	0.0072	0.0072	0.0072	0.0071	0.0116	0.0071	0.0070	0.0094	0.0086	0.0013	0.0029	0.0020	0	0.0027	0.0116	0.0082	0.0069	0.0066	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0070	0.0068	0.0013	0	0.0037	0.0020	0	0.0035	0.0272	0.0075	0.0076	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1116.07	28	chr5	7862999	.	T	TA	1116.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=626;ExcessHet=0.1072;FS=2.799;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.438;SOR=1.022	GT:AD:DP:GQ:PL	0/1:25,37:62:99:963,0,592	19	0	2	0
chr5	32107974	32107974	G	A	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon25:c.G8359A:p.A2787T,	.	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.5	M	1.18	T	-0.603	T	0.258	T	0.617	3.988	20.4	5.88	2.778	4.675	17.722	0.271	0.0407713434352	.	.	1.65e-05	0	0	0	0	1.501e-05	0	6.074e-05	1.29e-05	2	154602	rs199744862	2.056e-05	2.052e-05	1.5e-05	2.616e-05	2.612e-05	1.458e-05	1.266e-05	1.833e-05	1.584e-05	0	0	0	0	0	0	2.612e-05	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000030	0.55875	D	0.000000	0.999586	0.47691	D	2.91	0.84121	M	1.18	0.37746	T	-1.89	0.44094	N	0.629	0.64308	-0.6026	0.64710	T	0.258	0.62889	T	10	0.7725844	0.77202	D	0.040771	0.59558	D	0.271	0.58633	0.695	0.83219	0.738404825437	0.73606	0.5793246563514091	0.57861	0.628954868064	0.56951	0.455772340298	0.32732	T	0.148903	0.48767	T	-0.0715521	0.41076	T	-0.232899	0.51490	T	0.837026476860046	0.49086	D	0.928707	0.73770	D	0.22850057	0.45571	0.3602107	0.61467	0.22850057	0.45571	0.3602107	0.61466	-8.958	0.67426	D	.	.	0.336	0.55617	B	.	.	4.644480	0.73970	26.1	0.99878603018792478	0.95491	0.94996	0.63061	D	AEFBI	0.527606	0.54948	D	0.768437782597368	0.84100	8.194321	0.725217139910356	0.84293	8.251943	0.999999987047749	0.74766	0.475973	0.10046	0	0.54472	0.11627	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	5.88	5.88	0.94564	4.820000	0.62361	8.704000	0.78116	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.528000	0.29660	0.0:0.0:1.0:0.0	17.722	0.88260	654	0.62520	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	486.98	33	chr5	32107974	.	G	A	486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.385e+00;DP=763;ExcessHet=0.0000;FS=1.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.80;ReadPosRankSum=-6.620e-01;SOR=0.887	GT:AD:DP:GQ:PL	0/1:95,33:128:99:501,0,2351	20	0	1	0
chr5	34914757	34914757	T	C	exonic	RAD1	.	nonsynonymous SNV	RAD1:NM_002853:exon2:c.A136G:p.K46E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	1.000	N	-0.2	N	2.56	T	-0.934	T	0.011	T	0.284	0.022	4.127	1.99	0.100	0.994	5.5	0.037	0.00390725684627	0.0002	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.88e-05	6	154602	rs369787157	7.593e-05	7.593e-05	5.445e-05	9.763e-05	9.532e-05	6.423e-05	6.004e-05	8.036e-05	7.491e-05	2.987e-05	4.472e-05	0	0	0	0	9.532e-05	1.656e-05	1.159e-05	5.255e-05	5.253e-05	2.569e-05	8.066e-05	0.0001	2.556e-05	1.83e-05	4.764e-05	3.338e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.04636	T	0.0	0.02946	B	0.0	0.01387	B	0.001802	0.37945	N	0.293362	0.999879	0.19925	N	-0.795	0.01629	N	2.56	0.13673	T	1.37	0.00867	N	0.265	0.30004	-0.9341	0.43530	T	0.011	0.04369	T	10	0.061638147	0.07758	T	0.003907	0.09211	T	0.037	0.09474	.	.	0.209622950755	0.20551	0.37596155215312466	0.37510	0.10617641788	0.12004	0.36910545826	0.20703	T	0.015526	0.13004	T	-0.382073	0.03023	T	-0.571263	0.15333	T	0.030154219428794	0.02013	T	0.868313	0.62218	D	0.28496101	0.51520	0.09931071	0.23706	0.28496101	0.51519	0.09931071	0.23705	-5.328	0.40219	T	.	.	0.072	0.35540	B	.;.;.	.;.;.	1.495859	0.19233	14.16	0.80047578070939263	0.13020	0.55061	0.29770	D	ALL	0.088857	0.18012	N	-0.926583109834809	0.10224	0.4875305	-0.781462253426156	0.14950	0.7838173	0.999999999999707	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	5.83	1.99	0.25423	0.997000	0.29333	2.247000	0.31658	0.665000	0.62972	0.708000	0.28703	0.997000	0.33255	0.842000	0.39752	0.0:0.1525:0.2762:0.5713	5.5	0.16114	517	0.74620	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1399.98	33	chr5	34914757	.	T	C	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.830e-01;DP=829;ExcessHet=0.0000;FS=0.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-1.549e+00;SOR=0.585	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1414,0,1484	20	0	1	0
chr5	56176157	56176157	A	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon4:c.T307A:p.Y103N,	.	.	432	1073	14	3	0	20	0.00923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	1.0	D	0.000	D	1.000	D	1.25	L	-0.08	T	-0.638	T	0.313	T	0.87	4.728	26.3	5.31	1.992	7.712	14.921	0.569	0.0581225913984	0.0006	0.000199681	0.0006	0	0.0003	0	0	0.0008	0	0.0013	0.0005886	91	154602	rs150154852	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	5.974e-05	0.0007	0	0	0	0.0047	0.0006	0.0009	0.0013	0.0006	0.0006	0.0005	0.0006	0.0012	0.0005	0.0004	0.0007	0.0006	0.0001	0	0.0008	0	0	0	0	0.0009	0.0014	0.0012	0.016	0.63226	D	0.054	0.47097	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999996	0.58761	D	0.965	0.23975	L	-0.08	0.63911	T	-5.23	0.93927	D	0.826	0.86191	-0.6383	0.63218	T	0.313	0.68300	T	10	0.28848886	0.46431	T	0.058123	0.67208	D	0.569	0.82460	.	.	0.732198053523	0.72981	0.45069754833998027	0.44987	1.02897236375	0.75360	0.790907740593	0.80581	T	0.120591	0.44293	T	0.00145196	0.51855	T	0.193931	0.82790	D	0.100164450217825	0.12375	T	0.938506	0.78031	D	0.7814739	0.82744	0.82325923	0.89748	0.7814739	0.82746	0.82325923	0.89749	-11.747	0.83597	D	.	.	0.853	0.79905	P	.;.;.	.;.;.	4.910569	0.80791	27.4	0.98771492631215552	0.45971	0.97189	0.73214	D	AEFGBIJ	0.880243	0.80676	D	0.535002652593623	0.69173	5.319768	0.557100437409434	0.71893	5.724689	0.999999999968751	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.635259	0.50027	0	.	.	5.31	5.31	0.75063	8.072000	0.89294	11.134000	0.86880	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	14.921	0.70487	268	0.89479	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	906.98	35	chr5	56176157	.	A	T	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.750e-01;DP=787;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=1.06;SOR=0.525	GT:AD:DP:GQ:PL	0/1:42,42:84:99:921,0,943	20	0	1	0
chr5	69509191	69509191	A	G	exonic	OCLN	.	nonsynonymous SNV	OCLN:NM_001205254:exon3:c.A101G:p.H34R	Band-like calcification with simplified gyration and polymicrogyria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.09	B	0.068	B	0.000	D	1.000	D	1.04	L	-0.97	T	-0.718	T	0.274	T	0.554	1.432	10.73	6.04	2.317	2.858	15.571	0.237	0.0122523901426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.231e-05	1.3e-05	1.361e-05	1.1e-05	1.619e-05	7.7e-06	6.35e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.13522	T	0.528	0.10173	T	0.09	0.25173	B	0.068	0.27651	B	0.000009	0.62929	D	0.108710	0.996436	0.81001	D	0.6	0.15550	N	-0.97	0.75670	T	-1.23	0.31170	N	0.225	0.25253	-0.7184	0.59541	T	0.274	0.64525	T	10	0.1652019	0.30885	T	0.012252	0.30654	T	0.237	0.54074	0.224	0.14813	0.724037271485	0.72160	0.6847371328480403	0.68412	0.0665289231981	0.07418	0.61613124609	0.55181	T	0.130833	0.45996	T	0.0227651	0.54755	T	-0.205076	0.54165	T	0.375588268041611	0.28013	T	0.611839	0.23263	T	0.08631524	0.20058	0.11328334	0.27340	0.08631524	0.20058	0.11328334	0.27339	-2.791	0.08101	T	.	.	0.092	0.13783	B	.;.	.;.	2.272502	0.29051	18.00	0.96807951261412895	0.31176	0.93571	0.58581	D	AEFBI	0.293109	0.40381	N	-0.133643317732878	0.35933	2.070357	0.0488868870569282	0.42017	2.53423	0.999999811379483	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.04	6.04	0.98025	2.961000	0.48861	9.392000	0.80586	0.756000	0.94297	0.990000	0.36992	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.571	0.76078	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1576.98	34	chr5	69509191	.	A	G	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.496e+00;DP=855;ExcessHet=0.0000;FS=1.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.937;SOR=0.818	GT:AD:DP:GQ:PL	0/1:74,79:153:99:1591,0,1741	20	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	0/1:41,57,0,0:98:99:2209,0,1418,2332,1593,3924,2332,1593,3924,3924	7	0	1	0
chr5	90614967	90614967	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon2:c.G155A:p.R52H,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	38	1481	3	0	0	3	0.0010118	.	.	269751	Usher_syndrome_type_2C|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.991	D	0.000	D	1.000	D	1.995	M	1.65	T	-0.848	T	0.201	T	0.932	5.405	34	6.07	2.885	8.248	20.659	0.457	0.3838965565	0.0002	.	0.0001	0.0006	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs199798095	9.146e-05	9.166e-05	8.972e-05	9.325e-05	0.0007	7.83e-05	7.36e-05	0.0002	0.0001	6.229e-05	5.042e-05	0	0.0001	1.962e-05	0.0007	0.0001	8.603e-05	1.282e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.1e-05	5.755e-05	5.855e-05	4.248e-05	9.633e-05	0	0.0002	0	0.0002	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.51	0.30937	T	-3.87	0.72594	D	0.686	0.69213	-0.8478	0.52120	T	0.201	0.55695	T	10	0.65599227	0.69877	D	0.383897	0.93035	D	0.457	0.75551	.	.	0.763501283187	0.76134	0.6904474850827335	0.68984	0.290895601099	0.31494	0.55219078064	0.46167	T	0.188388	0.54228	T	0.0651507	0.60254	T	0.149295	0.80138	D	0.905936896800995	0.55981	D	0.921908	0.71628	D	0.37520882	0.58967	0.24945705	0.50517	0.37520882	0.58967	0.24945705	0.50516	-1.812	0.02545	T	.	.	0.181	0.39288	B	.;.;.	.;.;.	4.991109	0.82740	27.9	0.99943770839925428	0.99868	0.94805	0.62390	D	AEFBCI	0.899187	0.84329	D	0.897618414361558	0.91640	10.98821	0.906608666424155	0.95854	14.03795	0.999999999999999	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.024000	0.89145	11.706000	0.94575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.659	0.99629	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	837.98	34	chr5	90614967	.	G	A	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.865e+00;DP=802;ExcessHet=0.0000;FS=2.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.76;ReadPosRankSum=0.729;SOR=0.580	GT:AD:DP:GQ:PL	0/1:77,47:124:99:852,0,1726	20	0	1	0
chr5	90651637	90651637	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon18:c.C3323T:p.T1108I,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	.	1495892	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	1.000	D	2.18	M	1.42	T	-0.726	T	0.207	T	0.906	3.811	19.35	5.49	2.565	5.795	19.358	0.416	0.373445860939	.	.	1.803e-05	0	0	0	0	3.278e-05	0	0	1.29e-05	2	154602	rs773942000	6.87e-07	6.841e-07	0	1.38e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.42	0.33189	T	-3.57	0.68999	D	0.933	0.93841	-0.7262	0.59154	T	0.207	0.56622	T	10	0.7298832	0.74225	D	0.373446	0.92802	D	0.416	0.72631	0.485	0.56780	0.75465191572	0.75242	0.7225374519118919	0.72197	0.281212396395	0.30597	0.574237465858	0.49276	T	0.455139	0.79441	T	0.230908	0.76806	D	0.109393	0.77534	D	0.92324560880661	0.58379	D	0.805419	0.45334	T	0.46687296	0.65098	0.32474974	0.58396	0.46687296	0.65099	0.32474974	0.58395	-6.207	0.47980	T	.	.	0.231	0.46836	B	.;.;.	.;.;.	3.952732	0.57923	23.9	0.99868766501057415	0.94637	0.98477	0.83190	D	AEFBI	0.808831	0.73250	D	0.666880268573508	0.77463	6.679916	0.606303312022192	0.75395	6.303264	1.0	0.98316	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	5.871000	0.69377	7.625000	0.62478	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:1.0:0.0:0.0	19.358	0.94412	700	0.57880	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	713.98	35	chr5	90651637	.	C	T	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=763;ExcessHet=0.0000;FS=4.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.60;ReadPosRankSum=0.959;SOR=1.148	GT:AD:DP:GQ:PL	0/1:48,35:83:99:728,0,1061	20	0	1	0
chr5	111106140	111106140	G	A	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon11:c.G1177A:p.A393T,	Glaucoma 1, open angle, G	.	3	1469	49	1	0	51	0.0170626	.	.	16621	not_provided|Glaucoma_1,_open_angle,_G|Usher_syndrome_type_2C|WDR36-related_disorder	MedGen:C3661900|MedGen:C1835933,OMIM:609887|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.717	P	0.162	B	0.000	D	0.996	A	1.245	L	0.31	T	-0.532	T	0.134	T	0.793	3.677	18.69	4.81	2.698	2.176	11.193	0.257	.	0.0035	0.0103834	0.0085	0.0009	0.0024	0	0.0008	0.0049	0.0077	0.0396	0.0077877	1204	154602	rs35703638	0.0063	0.0063	0.0052	0.0074	0.0396	0.0062	0.0061	0.0384	0.0380	0.0009	0.0021	0.0185	2.529e-05	0.0010	0.0190	0.0041	0.0072	0.0396	0.0046	0.0046	0.0040	0.0052	0.0421	0.0043	0.0042	0.0374	0.0355	0.0007	0	0.0040	0.0191	0.0004	0.0008	0.0068	0.0045	0.0071	0.0421	.	.	.	0.172	0.31427	T	0.717	0.42239	P	0.162	0.34839	B	0.000000	0.84330	D	0.053679	0.981453	0.42740	A	1.065	0.27018	L	-0.22	0.66474	T	-1.01	0.26639	N	0.225	0.25253	-0.5319	0.67469	T	0.134	0.44700	T	9	0.0058906674	0.00132	T	.	.	.	0.257	0.56827	.	.	0.918932208345	0.91811	0.3555309418206018	0.35467	0.0296278266116	0.03046	0.437898874283	0.30291	T	0.111246	0.42658	T	-0.192804	0.21846	T	-0.0204496	0.68999	D	0.00514807261636098	0.00056	T	0.850115	0.53348	D	0.521217	0.68329	0.3595118	0.61409	0.5670011	0.70896	0.32784036	0.58677	-5.778	0.44382	T	0.15303880024046368	0.18173	0.116	0.26978	B	.;.;.	.;.;.	3.060918	0.41109	21.3	0.99769962277605184	0.85834	0.92968	0.56993	D	AEFBI	0.222266	0.34678	N	0.266451796840912	0.54457	3.611202	0.373573685898376	0.59941	4.176374	0.998851764279735	0.37823	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	4.81	0.61401	2.251000	0.42840	7.308000	0.58115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.743:0.257	11.193	0.47921	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-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	0.04762	1807.11	39	chr5	111106140	.	G	A	1807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=880;ExcessHet=0.1072;FS=0.506;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=1.75;SOR=0.736	GT:AD:DP:GQ:PL	0/1:62,34:96:99:750,0,1452	19	0	2	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	0/1:131,91,0,0:222:99:1711,0,3103,2318,3642,7383,2318,3642,7383,7383	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	0/1:107,69,0:181:99:2872,0,4227,3183,4444,7802	3	5	12	0
chr5	131879048	131879048	T	C	exonic	MEIKIN	.	nonsynonymous SNV	MEIKIN:NM_001303622:exon9:c.A704G:p.D235G,	.	.	588	927	7	0	0	7	0.00376142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs142637902	0.0025	0.0010	0.0023	0.0027	0.0109	0.0024	0.0023	0.0066	0.0053	0.0006	0.0011	0.0100	0	0.0003	0.0109	0.0028	0.0032	0.0007	0.0019	0.0019	0.0019	0.0018	0.0025	0.0017	0.0016	0.0022	0.0021	0.0004	0	0.0014	0.0153	0	0.0002	0	0.0025	0.0043	0.0015	.	.	.	0.198	0.46632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.17140	.	.	.	.	.	.	.	0.008296341	0.00188	T	.	.	.	.	.	.	.	0.791150215051	0.78921	0.06455478121640815	0.06394	.	.	.	.	.	0.029936	0.21334	T	-0.464666	0.00919	T	-0.445164	0.28232	T	.	.	.	0.60264	0.22576	T	0.08078398	0.18528	0.20747592	0.45008	0.08078398	0.18528	0.20747592	0.45007	-3.549	0.17125	T	.	.	0.096	0.15296	B	.;.	.;.	2.286476	0.29245	18.06	0.86861445147880934	0.16823	0.44764	0.27390	N	AEFI	.	.	.	.	.	.	.	.	.	1.16063985038244E-4	0.05269	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.111282	0.23731	3.63	1.25	0.20475	0.845000	0.27321	1.300000	0.25468	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.2407:0.0:0.7593	5.148	0.14322	488	0.76887	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	863.98	33	chr5	131879048	.	T	C	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.218e+00;DP=748;ExcessHet=0.0000;FS=3.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.672;SOR=0.414	GT:AD:DP:GQ:PL	0/1:35,39:74:99:878,0,810	20	0	1	0
chr5	135825729	135825729	C	A	exonic	LOC107986453	.	stopgain	LOC107986453:NM_001365196:exon3:c.C485A:p.S162X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.358e-06	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	986.23	99	chr5	135825729	.	C	A,T	986.23	.	AC=2,5;AF=0.091,0.227;AN=22;BaseQRankSum=0.457;DP=99;ExcessHet=0.0678;FS=1.884;InbreedingCoeff=0.1957;MLEAC=2,9;MLEAF=0.091,0.409;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.282e+00;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,32:65:99:.:.:717,816,1636,0,820,724	6	1	0	10
chr5	140671309	140671309	G	C	exonic	DND1	.	nonsynonymous SNV	DND1:NM_194249:exon4:c.C1046G:p.T349S,	.	.	403	1044	75	0	0	75	0.0346741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.001	B	0.988	N	1.000	N	0.55	N	1.54	T	-1.001	T	0.040	T	0.049	1.043	9.262	0.117	0.101	0.583	3.914	0.029	0.00299662886539	.	.	0.0003	0.0001	0	0	0	0.0005	0	0	0.0002135	33	154602	rs201638404	2.076e-05	0.0028	1.515e-05	2.644e-05	0.0019	1.473e-05	1.278e-05	0.0010	0.0008	0	0	3.843e-05	0	9.62e-05	0.0019	9.11e-06	0	4.646e-05	6.594e-06	0.0002	1.289e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.218	0.19090	T	0.063	0.45110	T	0.0	0.02946	B	0.001	0.04355	B	0.987573	0.07881	N	1.006470	1	0.08975	N	0.695	0.17993	N	1.54	0.30133	T	-0.59	0.17624	N	0.037	0.01135	-1.0009	0.29660	T	0.040	0.17362	T	10	0.034810185	0.01704	T	0.002997	0.06427	T	0.029	0.06676	0.1	0.01484	0.161926535498	0.15789	0.40438706048263123	0.40354	0.637984465512	0.57542	0.34559237957	0.17271	T	0.102753	0.41077	T	-0.360183	0.04119	T	-0.755154	0.03289	T	0.0211142783198718	0.00813	T	0.279972	0.04873	T	0.042993844	0.06623	0.025890457	0.00652	0.042993844	0.06622	0.025890457	0.00652	-2.879	0.08935	T	.	.	0.074	0.05017	B	.	.	1.151131	0.15394	11.82	0.72799346766082673	0.10100	0.21105	0.21283	N	AEFDGBCI	0.089470	0.18134	N	-0.982930631239168	0.08968	0.4225575	-0.985513379254524	0.10110	0.5071382	0.999349824977441	0.39222	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.635551	0.53088	0	.	.	4.97	0.117	0.13957	0.698000	0.25249	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.697000	0.34049	0.3271:0.0:0.5115:0.1614	3.914	0.08714	176	0.93188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	312.34	36	chr5	140671309	.	G	C	312.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.57;DP=1033;ExcessHet=0.0000;FS=6.576;InbreedingCoeff=-0.0379;MLEAC=1;MLEAF=0.025;MQ=46.43;MQRankSum=-4.654e+00;QD=12.01;ReadPosRankSum=-2.566e+00;SOR=3.293	GT:AD:DP:GQ:PL	0/1:13,13:26:99:326,0,350	19	0	1	1
chr5	140823093	140823093	G	T	exonic	PCDHA5	.	nonsynonymous SNV	PCDHA5:NM_018908:exon1:c.G1318T:p.V440L	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.091	B	0.349	B	.	.	0.978	N	-0.81	N	0.05	T	-0.930	T	0.102	T	0.232	0.211	5.139	2.09	0.238	-1.796	3.010	0.067	0.0238198111629	0.0002	.	9.098e-05	0.0004	0	0.0001	0	7.529e-05	0	6.061e-05	9.06e-05	14	154602	rs147205231	4.036e-05	4.036e-05	4.629e-05	3.438e-05	0.0002	3.179e-05	2.911e-05	0.0001	8.676e-05	0.0002	2.236e-05	3.828e-05	0	1.875e-05	0	3.867e-05	6.624e-05	1.159e-05	5.911e-05	5.909e-05	3.853e-05	8.066e-05	0.0001	3.076e-05	2.209e-05	6.28e-05	4.297e-05	0.0001	0	0	0	0	0	0	2.94e-05	0.0005	0	0.429	0.09572	T	0.297	0.20551	T	0.091	0.25247	B	0.03	0.42787	B	.	.	.	.	0.977911	0.25282	N	0.625	0.15840	N	0.05	0.61923	T	-2.19	0.49352	N	0.169	0.32591	-0.9298	0.44168	T	0.102	0.37819	T	9	0.04619035	0.03780	T	0.02382	0.46796	T	0.067	0.19503	0.567	0.68901	0.497547018531	0.49389	0.14242149814918673	0.14165	0.436062898333	0.43710	.	.	.	0.007874	0.07247	T	-0.394036	0.02533	T	-0.507589	0.21563	T	0.0305260581874572	0.02071	T	0.60094	0.22456	T	0.08116678	0.18637	0.10627451	0.25563	0.08116678	0.18637	0.10627451	0.25562	-7.54	0.57891	D	.	.	0.1	0.23570	B	.;.;.	.;.;.	1.218248	0.16117	12.33	0.92820302432864887	0.22348	0.10350	0.15881	N	AEFGBHCI	0.167121	0.29377	N	-0.826263893417367	0.12641	0.6174753	-0.710953422374481	0.16689	0.8839897	3.51965224812883E-4	0.06668	0.553676	0.25195	0	0.588015	0.36545	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	3.98	2.09	0.26154	-1.826000	0.01799	.	.	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.306000	0.24642	0.0886:0.1556:0.3383:0.4176	3.010	0.05676	28	0.98252	.;.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2414.98	133	chr5	140823093	.	G	T	2414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.86;DP=2066;ExcessHet=0.0000;FS=1.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=0.246;SOR=0.640	GT:AD:DP:GQ:PL	0/1:129,105:234:99:2429,0,2715	20	0	1	0
chr5	141201261	141201261	T	C	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.T1487C:p.L496P,	.	.	308	1201	13	0	0	13	0.00538302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.29	N	4.64	T	-0.908	T	0.003	T	0.081	-2.193	0.005	-1.34	-0.521	-2.199	0.087	0.039	0.0209242374983	.	.	9.064e-05	9.63e-05	8.637e-05	0	0	0.0001	0	0	1.94e-05	3	154602	rs377311561	0.0001	0.0002	0.0001	0.0001	0.0004	0.0001	9.914e-05	0.0001	0.0001	2.994e-05	6.713e-05	0	2.519e-05	0	0.0004	0.0001	9.956e-05	1.16e-05	0.0002	0.0017	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0	0	0.0035	0.0002	0	0	1.0	0.00964	T	0.869	0.18018	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-0.43	0.02865	N	4.64	0.01799	T	7.16	0.00003	N	0.045	0.01740	-0.9080	0.47097	T	0.003	0.00897	T	9	0.029480934	0.01074	T	0.020924	0.43616	T	0.039	0.10176	0.409	0.44395	0.0716867268079	0.06686	0.12223043496115316	0.12150	0.3628179241	0.37928	0.41848295927	0.27628	T	0.00543	0.04881	T	-0.575806	0.00204	T	-0.795582	0.02015	T	0.050601392995515	0.05605	T	0.0241976	0.00179	T	0.033085153	0.03459	0.054963145	0.09554	0.033085153	0.03458	0.054963145	0.09554	0.83	0.00155	T	.	.	0.039	0.00017	B	.;.	.;.	0.219071	0.06016	2.458	0.033756353656318606	0.00000	0.00365	0.01864	N	AEFDBI	0.047579	0.08025	N	-2.10250754910901	0.00127	0.005417057	-2.11845561951991	0.00170	0.007473022	0.00218433667622579	0.09217	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.3	-1.34	0.08665	-0.097000	0.11010	.	.	-3.265000	0.00102	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2543:0.2255:0.193:0.3272	0.087	0.00033	664	0.61548	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	144.98	199	chr5	141201261	.	T	C	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=1857;ExcessHet=0.0000;FS=30.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.41;MQRankSum=-1.405e+01;QD=0.69;ReadPosRankSum=-3.593e+00;SOR=3.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,21:210:99:0|1:141201247_C_G:159,0,7604:141201247	20	0	1	0
chr5	141225285	141225285	G	A	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.G1780A:p.G594S,	.	.	31	1345	146	0	0	146	0.051481	.	.	2333946	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.126	B	0.037	B	.	.	1.000	N	0.48	N	0.82	T	-1.040	T	0.069	T	0.196	2.281	13.59	1.07	-0.022	1.960	6.374	0.070	0.00812370171638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0002	0.0004	0.0010	0.0003	0.0003	0.0003	0.0003	6.028e-05	4.557e-05	0.0001	0.0003	0.0006	0.0010	0.0003	0.0003	0.0002	2.633e-05	0.0001	3.859e-05	1.348e-05	4.421e-05	8.15e-06	5.15e-06	1.174e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.421e-05	0	0	0.129	0.26852	T	0.231	0.37310	T	0.126	0.26920	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.515	0.13537	N	0.82	0.48142	T	-3.18	0.64478	D	0.034	0.13769	-1.0398	0.17374	T	0.069	0.28147	T	9	0.19781601	0.35727	T	0.008124	0.21521	T	0.070	0.20419	.	.	0.565131857978	0.56177	0.36686842792872654	0.36600	0.245885684845	0.27115	0.580103754997	0.50101	T	0.009182	0.08373	T	-0.211783	0.19127	T	-0.541988	0.18101	T	0.156878933310509	0.17638	T	0.690631	0.30012	T	0.08944512	0.20898	0.1374503	0.32854	0.08944512	0.20898	0.1374503	0.32853	-9.129	0.68523	D	.	.	0.094	0.14523	B	.;.	.;.	2.012059	0.25564	16.81	0.98644404939967945	0.44096	0.16045	0.19205	N	AEFI	0.149542	0.27365	N	-0.635078871570523	0.17897	0.9248997	-0.577513812790395	0.20079	1.080253	5.80256062791124E-5	0.04171	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.03	1.07	0.19399	2.189000	0.42253	.	.	0.565000	0.28586	0.032000	0.20554	0.000000	0.08366	0.950000	0.49671	0.183:0.1562:0.6608:0.0	6.374	0.20703	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	72.04	69	chr5	141225285	.	G	A	72.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=1189;ExcessHet=0.0000;FS=3.040;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.024;MQ=36.28;MQRankSum=1.13;QD=0.75;ReadPosRankSum=-4.570e-01;SOR=1.095	GT:AD:DP:GQ:PL	0/1:83,13:96:86:86,0,2141	20	0	1	0
chr5	141340907	141340907	A	G	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.A1936G:p.I646V	.	.	10	1501	11	0	0	11	0.00365085	.	.	2825333	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	1.000	N	-2.13	N	0.5	T	-0.984	T	0.031	T	0.127	-1.979	0.007	4.28	0.716	4.525	10.260	0.121	0.00829180690256	0.0038	0.00339457	0.0057	0.0044	0.0027	0.0004	0.0038	0.0080	0.0044	0.0032	0.000815	126	154602	rs148082357	0.0066	0.0082	0.0067	0.0065	0.0076	0.0065	0.0064	0.0075	0.0074	0.0033	0.0024	0.0059	0.0004	0.0038	0.0011	0.0076	0.0057	0.0028	0.0065	0.0066	0.0067	0.0063	0.0092	0.0062	0.0060	0.0086	0.0083	0.0048	0	0.0041	0.0098	0.0002	0.0040	0	0.0092	0.0052	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002173	0.37095	N	0.000000	1	0.81001	D	-1.775	0.00311	N	0.5	0.55608	T	0.98	0.01447	N	0.133	0.13626	-0.9838	0.34116	T	0.031	0.13461	T	10	0.004855424	0.00103	T	0.008292	0.21954	T	0.121	0.33580	.	.	0.233150807113	0.22925	0.11226791778901746	0.11155	0.262710229248	0.28831	.	.	.	0.009553	0.08696	T	-0.551813	0.00284	T	-0.556022	0.16753	T	0.00402469210376187	0.00043	T	0.411359	0.11926	T	0.030672263	0.02772	0.04926815	0.07493	0.030672263	0.02771	0.04926815	0.07492	5.498	0.00002	T	.	.	0.055	0.00420	B	.;.	.;.	0.420978	0.07917	4.622	0.38833541151841894	0.02643	0.04777	0.10489	N	AEFBHI	0.029458	0.02782	N	-1.30841991716597	0.03578	0.1600848	-1.06367515432569	0.08424	0.4141547	0.00901567051933321	0.11781	0.549168	0.22868	0	0.588066	0.40923	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.14	4.28	0.50183	3.497000	0.53057	.	.	-0.855000	0.02678	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.222:0.0:0.778:0.0	10.260	0.42602	711	0.56613	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	380.98	33	chr5	141340907	.	A	G	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.899;DP=1160;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.49;MQRankSum=-7.517e+00;QD=3.02;ReadPosRankSum=-2.527e+00;SOR=0.563	GT:AD:DP:GQ:PL	0/1:101,25:126:99:395,0,2735	20	0	1	0
chr5	141346011	141346011	C	G	exonic	PCDHGA3	.	nonsynonymous SNV	PCDHGA3:NM_018916:exon1:c.C1978G:p.L660V	.	.	12	1502	8	0	0	8	0.00265604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.031	B	0.173	B	0.250	U	1.000	N	0.05	N	0.55	T	-1.020	T	0.093	T	0.131	0.574	7.100	4.19	2.566	-0.187	10.097	0.081	0.0112362487732	.	0.000399361	0.0020	0.0005	0.0011	0.0008	0.0010	0.0030	0.0012	0.0005	0.0001921	5	26028	rs201663850	0.0016	0.0055	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0003	0.0004	0.0005	0.0006	0.0001	0.0002	0.0019	0.0010	0.0002	0.0001	0.0002	0.0001	0.0002	0.0004	8.664e-05	7.256e-05	0.0001	7.898e-05	0	0	0.0003	0	0.0004	0	0	0.0002	0	0.0004	0.368	0.11623	T	0.415	0.14326	T	0.025	0.20130	B	0.108	0.35463	B	0.249960	0.15531	U	0.341744	1	0.81001	D	0.675	0.16386	N	0.55	0.54728	T	-1.78	0.42001	N	0.132	0.14622	-1.0205	0.23551	T	0.093	0.35336	T	10	0.017173082	0.00365	T	0.011236	0.28661	T	0.081	0.23632	.	.	0.626812710122	0.62377	0.48724616299732404	0.48644	0.72637774397	0.62510	.	.	.	0.006932	0.06354	T	-0.234225	0.16093	T	-0.574224	0.15064	T	0.0163868849613396	0.00406	T	0.738226	0.39208	T	0.10906483	0.25786	0.10144965	0.24287	0.10906483	0.25786	0.10144965	0.24286	-4.465	0.30428	T	.	.	0.074	0.07507	B	.;.	.;.	1.436983	0.18559	13.80	0.91535529950151895	0.20812	0.17229	0.19746	N	AEFBI	0.093313	0.18882	N	-0.478640912924134	0.22781	1.21889	-0.321958282631181	0.27391	1.519538	0.00585000478085699	0.11059	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.12	4.19	0.48645	-0.303000	0.08249	.	.	0.578000	0.29377	0.000000	0.06391	0.431000	0.24855	0.331000	0.25224	0.1209:0.6637:0.2154:0.0	10.097	0.41655	725	0.54935	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	402.98	33	chr5	141346011	.	C	G	402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.530e+00;DP=1493;ExcessHet=0.0000;FS=2.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.22;MQRankSum=-2.065e+00;QD=1.76;ReadPosRankSum=1.02;SOR=0.896	GT:AD:DP:GQ:PL	0/1:186,43:229:99:417,0,4975	20	0	1	0
chr5	141389277	141389277	C	T	exonic	PCDHGB4	.	nonsynonymous SNV	PCDHGB4:NM_003736:exon1:c.C1393T:p.P465S	.	.	418	1084	20	0	0	20	0.00914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.857	P	0.789	P	.	.	1.000	N	0.84	L	0.73	T	-1.037	T	0.100	T	0.488	1.501	10.97	4.26	2.568	1.240	6.567	0.153	0.0269137542007	0.0059	0.00339457	0.0045	0.0015	0.0030	0	0.0003	0.0066	0.0078	0.0024	0.0001537	4	26028	rs148279287	0.0046	0.0046	0.0046	0.0046	0.0147	0.0045	0.0044	0.0122	0.0113	0.0013	0.0040	0.0064	0	0.0007	0.0147	0.0051	0.0051	0.0020	0.0043	0.0043	0.0045	0.0041	0.0076	0.0040	0.0039	0.0065	0.0060	0.0011	0.0417	0.0076	0.0058	0.0002	0.0006	0.0272	0.0059	0.0043	0.0017	0.305	0.14256	T	0.332	0.26883	T	0.421	0.47240	B	0.376	0.57669	B	.	.	.	.	1	0.81001	D	2.02	0.55341	M	0.73	0.50721	T	-2.66	0.56945	D	0.057	0.19861	-1.0372	0.18171	T	0.100	0.37137	T	9	0.008891255	0.00201	T	0.026914	0.49784	D	0.153	0.40148	.	.	0.559885124835	0.55649	0.26064744022772	0.25978	.	.	.	.	.	0.185007	0.53784	T	-0.406474	0.02098	T	-0.352643	0.38901	T	0.0224358848409932	0.00958	T	0.758124	0.51891	T	0.102983415	0.24337	0.10584765	0.25452	0.102983415	0.24337	0.10584765	0.25452	-6.32	0.48880	T	.	.	0.124	0.29751	B	.;.	.;.	2.664947	0.34729	19.71	0.99520966878309114	0.69222	0.64280	0.32356	D	AEFBI	0.309372	0.41569	N	-0.254240802489209	0.30935	1.729666	-0.313481041660855	0.27663	1.536576	0.950139025234648	0.27880	0.676563	0.55306	0	0.588066	0.40923	0	0.667671	0.60360	0	0.600526	0.37237	0	.	.	5.14	4.26	0.49832	1.097000	0.30600	.	.	0.524000	0.24156	0.021000	0.19753	0.005000	0.19230	0.002000	0.04165	0.1335:0.6591:0.1299:0.0775	6.567	0.21711	754	0.51307	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	566.98	34	chr5	141389277	.	C	T	566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.295;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=-6.130e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:49,27:76:99:581,0,1212	20	0	1	0
chr5	141415225	141415225	T	C	exonic	PCDHGA10	.	nonsynonymous SNV	PCDHGA10:NM_018913:exon1:c.T2050C:p.S684P	.	.	6	1504	12	0	0	12	0.00397351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.001	B	.	.	1.000	N	1.24	L	0.75	T	-1.077	T	0.045	T	0.061	1.193	9.849	-11.1	-1.576	-2.953	3.149	0.024	0.0042821845511	0.0069	0.00259585	0.0055	0.0017	0.0029	0	0.0039	0.0083	0.0022	0.0024	0.005705	882	154602	rs189700811	0.0078	0.0078	0.0079	0.0077	0.0092	0.0077	0.0076	0.0091	0.0090	0.0014	0.0028	0.0070	2.519e-05	0.0045	0.0010	0.0092	0.0066	0.0022	0.0055	0.0055	0.0058	0.0053	0.0090	0.0052	0.0051	0.0085	0.0082	0.0016	0	0.0043	0.0092	0	0.0046	0	0.0090	0.0038	0.0015	0.573	0.06125	T	0.374	0.16280	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	0.75	0.50192	T	-0.27	0.11366	N	0.061	0.03392	-1.0771	0.07922	T	0.045	0.19518	T	9	0.0035395324	0.00063	T	0.004282	0.10373	T	0.024	0.04979	.	.	0.212008924253	0.20833	0.3178876125496318	0.31701	0.598929250536	0.55043	.	.	.	0.00116	0.00668	T	-0.698324	0.00037	T	-0.766476	0.02886	T	0.00130548884503554	0.00013	T	0.050395	0.00358	T	0.04136224	0.06077	0.04469471	0.05848	0.04136224	0.06076	0.04469471	0.05847	-3.218	0.16869	T	.	.	0.060	0.01011	B	.;.	.;.	-2.251075	0.00057	0.001	0.53883161663882129	0.05027	0.02943	0.07767	N	AEFDBCI	0.131593	0.25059	N	-1.602148952853	0.01253	0.05454824	-1.74620261255404	0.00947	0.04242356	0.99999999842082	0.74766	0.676563	0.55306	0	0.627608	0.54475	0	0.723109	0.80598	0	0.600526	0.37237	0	.	.	5.57	-11.1	0.00116	-3.162000	0.00637	.	.	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3138:0.4163:0.1726:0.0973	3.149	0.06093	819	0.41190	.;.	PCDHB19P	Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2150.98	47	chr5	141415225	.	T	C	2150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=1230;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.46;MQRankSum=-3.540e-01;QD=12.08;ReadPosRankSum=-2.335e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/1:93,85:178:99:2165,0,2152	20	0	1	0
chr5	141415642	141415642	-	A	exonic	PCDHGA10	.	frameshift insertion	PCDHGA10:NM_032090:exon1:c.2467dupA:p.I827Dfs*6,	.	.	49	1321	16	0	136	152	0.00601956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	775.05	47	chr5	141415641	.	TA	T,TAA	775.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.308;DP=1080;ExcessHet=0.1072;FS=8.908;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.88;MQRankSum=0.00;QD=5.13;ReadPosRankSum=1.14;SOR=1.384	GT:AD:DP:GQ:PL	0/1:61,13,6:84:99:158,0,1577,241,1400,1879	19	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:62,31:93:99:102,0,819	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,94,0:94:99:.:.:4211,284,0,4211,284,4211	0	12	1	0
chr5	157162863	157162863	G	A	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.C1402T:p.R468W,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.655	P	0.076	B	0.002	N	1.000	D	2.395	M	2.09	T	-0.916	T	0.052	T	0.575	2.358	13.84	3.76	1.241	0.203	10.797	0.153	0.00882769891409	0.0003	0.000199681	0.0005	0	0.0002	0.0001	0.0003	0.0005	0.0011	0.0018	0.0004592	71	154602	rs201705403	0.0003	0.0003	0.0003	0.0004	0.0018	0.0003	0.0003	0.0015	0.0014	2.987e-05	0.0002	0	0.0003	9.363e-05	0	0.0003	0.0002	0.0018	0.0002	0.0002	0.0001	0.0003	0.0012	0.0001	0.0001	0.0005	0.0004	2.407e-05	0	6.538e-05	0	0	9.427e-05	0	0.0003	0	0.0012	0.03	0.45393	D	0.006	0.70582	D	0.655	0.40811	P	0.076	0.28435	B	0.001985	0.37503	N	0.000000	0.648995	0.32946	D	2.14	0.59869	M	2.09	0.20122	T	-5.14	0.83292	D	0.161	0.16864	-0.9165	0.46024	T	0.052	0.22269	T	10	0.026213408	0.00793	T	0.008828	0.23294	T	0.153	0.40148	.	.	0.0806252709748	0.07271	0.07718418315167365	0.07654	0.111349494379	0.12561	0.255142837763	0.04329	T	0.079583	0.36163	T	-0.442311	0.01253	T	-0.421356	0.30919	T	0.0868508181773507	0.10840	T	0.705629	0.31596	T	0.12238805	0.28760	0.16324688	0.37879	0.12238805	0.28760	0.16324688	0.37878	-8.12	0.61886	D	.	.	0.096	0.15296	B	.	.	1.900757	0.24143	16.29	0.98985148102138421	0.49821	0.60793	0.31297	D	AEFBI	0.253025	0.37260	N	-0.0581894020245627	0.39236	2.310644	-0.0869836519490068	0.35927	2.084464	0.159588353195494	0.17572	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	3.76	0.42368	0.338000	0.19599	-0.100000	0.11953	0.676000	0.76740	0.971000	0.34370	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.8103:0.1897	10.797	0.45668	558	0.71484	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1641.98	41	chr5	157162863	.	G	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=1105;ExcessHet=0.0000;FS=3.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.45;SOR=0.446	GT:AD:DP:GQ:PL	0/1:54,72:126:99:1656,0,1089	20	0	1	0
chr5	157333408	157333408	A	G	exonic	CYFIP2	.	nonsynonymous SNV	CYFIP2:NM_001291721:exon20:c.A2269G:p.I757V	.	.	427	1079	16	0	0	16	0.00735971	.	.	1154979	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.938	D	0.000	D	1.000	D	2.27	M	1.65	T	-0.850	T	0.144	T	0.741	5.027	29.7	5.91	2.254	9.288	16.348	0.194	0.011330762991	0.0046	0.00219649	0.0043	0.0015	0.0031	0	0.0003	0.0058	0.0067	0.0044	0.0042884	663	154602	rs139353471	0.0054	0.0054	0.0053	0.0054	0.0061	0.0053	0.0052	0.0060	0.0059	0.0010	0.0033	0.0039	2.519e-05	0.0005	0.0050	0.0061	0.0056	0.0049	0.0037	0.0037	0.0042	0.0031	0.0062	0.0034	0.0033	0.0057	0.0055	0.0011	0.0044	0.0029	0.0029	0	0.0002	0.0068	0.0062	0.0043	0.0033	0.034	0.44358	D	0.04	0.51112	D	0.126	0.62824	B	0.391	0.67350	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	1.65	0.27650	T	-0.9	0.24244	N	0.456	0.51761	-0.8495	0.52003	T	0.144	0.46605	T	10	0.01004681	0.00225	T	0.011331	0.28845	T	0.194	0.47447	.	.	0.47764994848	0.47394	0.7055049682725005	0.70492	1.21500097909	0.80935	0.663239479065	0.61873	T	0.133247	0.46381	T	-0.256503	0.13312	T	-0.130838	0.60901	T	0.0366169381100496	0.03088	T	0.978302	0.92360	D	0.22080095	0.44643	0.27465183	0.53395	0.1473502	0.33688	0.30521056	0.56548	-7.346	0.56522	T	.	.	0.094	0.17232	B	.;.;.;.;.;.	.;.;.;.;.;.	3.853875	0.55844	23.7	0.9992115614483148	0.98787	0.98867	0.87911	D	AEFBI	0.924380	0.90230	D	0.634335483216014	0.75357	6.291878	0.694591455599074	0.81966	7.652217	0.999999999948807	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.91	5.91	0.95240	9.274000	0.94942	11.259000	0.91010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.348	0.83004	777	0.48198	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2794.11	34	chr5	157333408	.	A	G	2794.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.12;DP=900;ExcessHet=0.1072;FS=0.999;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-3.200e-02;SOR=0.798	GT:AD:DP:GQ:PL	0/1:51,44:95:99:991,0,1067	19	0	2	0
chr5	157488315	157488315	G	C	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon21:c.C2500G:p.P834A,	.	.	423	1079	19	1	0	21	0.00963745	.	.	721355	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.82	T	0.884	P	0.334	B	0.001	N	0.986	D	1.04	L	4.9	T	-0.644	T	0.004	T	0.318	2.179	13.24	5.69	2.688	1.646	12.612	0.085	0.020230905109	0.0048	0.00279553	0.0048	0.0017	0.0035	0	0.0005	0.0066	0.0067	0.0045	0.0050064	774	154602	rs11466803	0.0065	0.0065	0.0065	0.0065	0.0074	0.0064	0.0063	0.0073	0.0072	0.0012	0.0040	0.0039	2.519e-05	0.0006	0.0049	0.0074	0.0067	0.0051	0.0042	0.0042	0.0046	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0013	0.0044	0.0040	0.0029	0.0002	0.0003	0.0068	0.0070	0.0052	0.0033	0.475	0.09896	T	0.237	0.31833	T	0.884	0.48618	P	0.301	0.41090	B	0.001106	0.40219	N	0.178465	0.986437	0.40431	D	1.905	0.50856	L	4.88	0.01459	T	-0.9	0.32991	N	0.305	0.38129	-0.6444	0.62957	T	0.004	0.01261	T	10	0.006568253	0.00149	T	0.020231	0.42781	T	0.085	0.24743	.	.	0.554640639675	0.55122	0.09056899518242394	0.08989	0.0720572644519	0.08078	0.380324423313	0.22302	T	0.054484	0.29737	T	-0.50803	0.00515	T	-0.492139	0.23166	T	0.0255115325970825	0.01340	T	0.734827	0.35112	T	0.057618104	0.11489	0.059582334	0.11206	0.057618104	0.11488	0.059582334	0.11206	-4.708	0.33501	T	.	.	0.066	0.03849	B	.;.	.;.	3.365715	0.46485	22.3	0.99301255362280227	0.58650	0.81023	0.40517	D	AEFBI	0.163862	0.29019	N	-0.117450378270477	0.36632	2.120105	0.0181788959327859	0.40559	2.422509	0.999988116002192	0.51787	0.732398	0.92422	0	0.698795	0.70079	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	1.740000	0.37852	11.752000	0.95431	0.618000	0.50648	0.971000	0.34370	1.000000	0.68203	0.749000	0.35751	0.0:0.0:0.7923:0.2077	12.612	0.55915	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2155.11	33	chr5	157488315	.	G	C	2155.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.108;DP=833;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-5.020e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1027,0,1178	19	0	2	0
chr5	160349769	160349769	C	T	exonic	C1QTNF2	.	nonsynonymous SNV	C1QTNF2:NM_001366504:exon3:c.G257A:p.R86Q	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	1.0	D	0.957	D	0.000	D	1.000	D	1.725	L	-3.37	D	0.649	D	0.851	D	0.546	3.252	16.91	5.76	2.734	3.194	19.565	0.441	0.166926099414	.	0.000998403	0.0002	0	0	0	0	1.691e-05	0	0.0020	0.0002264	35	154602	rs577083972	0.0002	0.0002	9.488e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0.0001	3.297e-05	0	0	0	0.0011	1.67e-05	0.0003	0.0024	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0.0001	0	0	0	0	0	0	0.0001	0.0005	0.0029	0.277	0.15665	T	0.572	0.08746	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999953	0.52396	D	.	.	.	-3.37	0.94114	D	-0.29	0.11728	N	0.498	0.53093	0.649	0.92532	D	0.851	0.95042	D	10	0.019938946	0.00452	T	0.166926	0.84542	D	0.441	0.74447	.	.	0.882350742781	0.88119	0.4081150034511589	0.40727	0.0781330664688	0.08789	0.421011686325	0.27975	T	.	.	.	-0.182684	0.23336	T	-0.0410467	0.67630	D	0.0604209743644728	0.07235	T	0.886111	0.61235	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17573	B	.	.	3.875101	0.56290	23.7	0.99737732631055354	0.83264	0.97466	0.74931	D	AEFDBI	0.712371	0.66551	D	0.590315152418763	0.72568	5.826516	0.610014159569355	0.75668	6.351096	0.999999968405293	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	4.152000	0.57887	4.896000	0.45813	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.565	0.95382	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	903.98	20	chr5	160349769	.	C	T	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=675;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=-5.790e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/1:54,44:98:99:918,0,1139	20	0	1	0
chr5	160394911	160394911	A	G	exonic	ZBED8	.	nonsynonymous SNV	ZBED8:NM_022090:exon2:c.T580C:p.Y194H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.649	P	.	.	0.796	N	1.665	L	2.12	T	-1.047	T	0.068	T	0.691	2.585	14.60	3.32	1.759	1.100	8.395	0.120	0.00114366297936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	0.986	0.61523	D	0.649	0.52426	P	.	.	.	.	0.795797	0.29173	N	2.215	0.62545	M	2.12	0.19726	T	-4.53	0.78388	D	0.615	0.64818	-1.0474	0.15130	T	0.068	0.27980	T	9	0.51517534	0.62324	D	0.001144	0.01410	T	0.120	0.33359	0.513	0.61153	0.268211541103	0.26431	0.45617001972535437	0.45535	0.304278428197	0.32738	.	.	.	0.169985	0.51757	T	0.000153477	0.51675	T	-0.237556	0.51036	T	0.970910310745239	0.69124	D	0.578142	0.20837	T	0.4194557	0.62055	0.44931972	0.67946	0.4194557	0.62056	0.44931972	0.67946	-8.271	0.62902	D	.	.	0.599	0.68821	P	.;.	.;.	3.408183	0.47264	22.4	0.99810903587531796	0.89442	0.25609	0.22750	N	AEFBI	0.081275	0.16444	N	0.227559878046663	0.52539	3.427376	0.164109480772986	0.47893	3.012932	0.999536410121253	0.40238	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.32	3.32	0.37134	1.085000	0.30452	6.395000	0.55566	0.756000	0.94297	0.585000	0.27626	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	8.395	0.31714	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1022.98	47	chr5	160394911	.	A	G	1022.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.040e-01;DP=811;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=1.84;SOR=1.059	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1037,0,925	20	0	1	0
chr5	173323265	173323265	G	A	exonic	STC2	.	nonsynonymous SNV	STC2:NM_003714:exon3:c.C460T:p.R154W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.72	P	0.077	N	1.000	N	0	N	.	.	-0.993	T	0.084	T	0.418	3.604	18.34	4.55	1.255	4.249	15.815	0.050	0.0148198081827	.	.	1.653e-05	0	0	0.0001	0.0002	0	0	0	1.29e-05	2	154602	rs148514784	1.026e-05	1.026e-05	1.089e-05	9.625e-06	0.0001	6.16e-06	4.89e-06	4.907e-05	3.165e-05	0	0	0	0.0001	1.872e-05	0	6.295e-06	1.656e-05	1.159e-05	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.422e-05	0	0	0	0	0.003	0.68238	D	0.024	0.56640	D	0.994	0.66517	D	0.72	0.54860	P	0.076943	0.21133	N	0.531595	0.999997	0.08975	N	0	0.06538	N	.	.	.	-2.71	0.57762	D	0.464	0.50056	-0.9933	0.31749	T	0.084	0.32843	T	9	0.39025292	0.54839	T	0.01482	0.35183	T	0.354	0.67510	0.452	0.51448	0.107399877778	0.10242	0.544234228991316	0.54349	1.07548936092	0.76945	0.198353558779	0.00410	T	0.56403	0.85455	D	-0.234934	0.16001	T	-0.283094	0.46486	T	0.522324689734566	0.33451	D	0.941806	0.78262	D	0.097124636	0.22888	0.12052806	0.29086	0.097124636	0.22887	0.12052806	0.29085	-6.061	0.46786	T	.	.	0.124	0.26169	B	.	.	4.409701	0.68213	25.2	0.99905740056866466	0.97651	0.84550	0.43633	D	AEFDBHCI	0.723826	0.67332	D	0.0795683212026607	0.45511	2.806351	0.0635653241932234	0.42731	2.589855	0.999999956542271	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	4.55	0.55429	4.350000	0.59169	4.680000	0.44317	0.676000	0.76740	0.998000	0.41325	0.936000	0.28664	0.853000	0.40368	0.0:0.1411:0.8589:0.0	15.815	0.78370	326	0.86709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1195.98	35	chr5	173323265	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-03;DP=801;ExcessHet=0.0000;FS=0.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.512;SOR=0.781	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1210,0,972	20	0	1	0
chr5	177371917	177371917	G	A	exonic	RGS14	.	nonsynonymous SNV	RGS14:NM_001366617:exon15:c.G1546A:p.D516N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.305	M	-1.23	T	0.267	D	0.597	D	0.329	4.781	26.9	3.95	1.237	8.881	12.738	0.787	0.120656222404	.	0.000399361	0.0001	0	0	0	0	9.068e-05	0	0.0006	0.0001229	19	154602	rs201610540	6.089e-05	6.088e-05	5.582e-05	6.601e-05	0.0007	5.028e-05	4.672e-05	0.0002	0.0002	0	0	0	0	0	0.0007	5.306e-05	0	0.0003	5.91e-05	5.905e-05	2.57e-05	9.399e-05	0.0008	3.075e-05	2.209e-05	0.0003	0.0002	0	0	6.534e-05	0	0	0	0	5.882e-05	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.056042	0.999579	0.47641	D	2.795	0.81503	M	-1.23	0.78860	T	-4.45	0.77717	D	0.862	0.85872	0.267	0.87023	D	0.597	0.85635	D	10	0.8460337	0.83769	D	0.120656	0.80125	D	0.787	0.92948	.	.	0.917147198217	0.91631	0.5458329772373338	0.54509	1.155443928	0.79353	0.809211015701	0.83371	D	0.714046	0.91866	D	-0.129497	0.31579	T	-0.0958302	0.63719	T	0.843783497810364	0.49639	D	0.973303	0.90409	D	0.85362536	0.87604	0.68453556	0.81453	0.85362536	0.87606	0.68453556	0.81454	-9.913	0.73389	D	.	.	0.890	0.82117	P	.	.	5.137568	0.85998	28.8	0.99916615736042225	0.98449	0.98909	0.88484	D	AEFBI	0.922228	0.89690	D	0.740656710563886	0.82294	7.727522	0.677562493562832	0.80678	7.352627	0.999999984963621	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.669	0.65921	0	.	.	4.84	3.95	0.44952	9.006000	0.93125	11.797000	0.96542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8354:0.1646	12.738	0.56607	934	0.15400	GoLoco motif|GoLoco motif|GoLoco motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1658.98	33	chr5	177371917	.	G	A	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=796;ExcessHet=0.0000;FS=1.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.106;SOR=0.590	GT:AD:DP:GQ:PL	0/1:39,69:108:99:1673,0,728	20	0	1	0
chr5	177398108	177398108	G	A	exonic	SLC34A1	.	nonsynonymous SNV	SLC34A1:NM_003052:exon13:c.G1742A:p.R581H,	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	2384193	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.002	B	0.001	B	0.612	N	1.000	N	1.15	L	1.52	T	-1.026	T	0.035	T	0.07	-0.389	2.175	-9.73	-2.150	-2.879	0.897	0.013	0.0039359776929	7.7e-05	0.000199681	8.286e-05	0.0002	0	0	0	0.0001	0	6.136e-05	8.41e-05	13	154602	rs372860328	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.984e-05	0.0001	0.0001	8.973e-05	0	0	0	0	0.0002	0.0001	0.0001	4.641e-05	7.225e-05	7.217e-05	8.997e-05	5.372e-05	0.0001	3.969e-05	3.126e-05	6.27e-05	4.291e-05	0.0001	0	0	0	0	0	0	7.352e-05	0	0	0.555	0.06482	T	0.483	0.11795	T	0.002	0.09854	B	0.001	0.04355	B	0.611841	0.05705	N	1.184600	1	0.08975	N	0.55	0.14455	N	1.52	0.30669	T	-1.39	0.34397	N	0.028	0.00618	-1.0258	0.21821	T	0.035	0.15030	T	10	0.04059413	0.02641	T	0.003936	0.09274	T	0.013	0.01715	.	.	0.158396225186	0.15383	0.15451553734865667	0.15372	0.0819803898389	0.09232	0.226977273822	0.01752	T	0.338306	0.70759	T	-0.582535	0.00186	T	-0.795112	0.02027	T	0.0252109150154793	0.01300	T	0.059894	0.00434	T	0.026137667	0.01633	0.03389053	0.02361	0.026137667	0.01633	0.03389053	0.02361	-4.844	0.35100	T	0.11536642930350614	0.10313	0.064	0.01577	B	.	.	-1.037010	0.00720	0.021	0.77146482750078715	0.11755	0.02841	0.07592	N	AEFBI	0.077511	0.15619	N	-1.70454795529999	0.00826	0.03570588	-1.83090541490132	0.00665	0.02959155	0.999999858334959	0.74766	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.34	-9.73	0.00427	-3.383000	0.00544	-8.467000	0.00965	-0.759000	0.03520	0.000000	0.06391	0.000000	0.08366	0.104000	0.18471	0.3999:0.1955:0.2003:0.2043	0.897	0.01186	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	704.98	34	chr5	177398108	.	G	A	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.660e-01;DP=798;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=2.08;SOR=0.800	GT:AD:DP:GQ:PL	0/1:53,36:89:99:719,0,1199	20	0	1	0
chr5	178119848	178119848	C	T	exonic	N4BP3	.	nonsynonymous SNV	N4BP3:NM_015111:exon2:c.C265T:p.R89W,	.	.	423	1071	28	0	0	28	0.0129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.306	B	0.609	N	0.983	D	1.355	L	6.7	T	-0.170	T	0.002	T	0.419	3.458	17.72	5.5	2.587	2.686	11.920	0.161	.	0.0012	0.00658946	0.0048	0.0004	0.0015	0.0004	0	0.0019	0.0045	0.0254	0.0042173	652	154602	rs146962131	0.0026	0.0026	0.0020	0.0032	0.0227	0.0025	0.0025	0.0219	0.0215	0.0005	0.0013	0.0069	0.0002	0.0002	0.0078	0.0012	0.0035	0.0227	0.0020	0.0020	0.0017	0.0023	0.0228	0.0018	0.0018	0.0194	0.0181	0.0003	0.0362	0.0027	0.0063	0	0	0	0.0012	0.0014	0.0228	0.002	0.72154	D	0.004	0.74150	D	0.99	0.63424	D	0.306	0.41250	B	0.609281	0.10883	N	0.824734	0.98294	0.39953	D	1.355	0.33814	L	6.7	0.00500	T	-3.2	0.64710	D	0.549	0.57518	-0.1695	0.78440	T	0.002	0.00676	T	10	0.006507933	0.00147	T	.	.	.	0.161	0.41658	.	.	0.495573750707	0.49194	0.2948520595669952	0.29398	0.386809144495	0.39969	0.421651661396	0.28065	T	0.190676	0.54529	T	-0.451319	0.01109	T	-0.402812	0.33058	T	0.0434527799513868	0.04320	T	0.878312	0.59309	D	0.122188926	0.28717	0.1339366	0.32105	0.122188926	0.28717	0.1339366	0.32104	-6.308	0.48785	T	.	.	0.183	0.39748	B	.	.	4.428912	0.68660	25.3	0.99880150957412417	0.95653	0.81072	0.40555	D	AEFDBCI	0.501753	0.53446	D	0.375290659665955	0.60084	4.193801	0.434771537558559	0.63744	4.614519	0.999988595682931	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.662433	0.64102	0	.	.	5.5	5.5	0.81386	2.778000	0.47412	4.017000	0.41215	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1739:0.8261:0.0:0.0	11.920	0.52068	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1145.98	38	chr5	178119848	.	C	T	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.271;DP=794;ExcessHet=0.0000;FS=1.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-7.480e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1160,0,1017	20	0	1	0
chr5	178150922	178150922	C	T	exonic	NHP2	.	nonsynonymous SNV	NHP2:NM_017838:exon3:c.G302A:p.R101Q,	Dyskeratosis congenita, autosomal recessive 2, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	239794	Dyskeratosis_congenita|not_specified|not_provided|NHP2-related_disorder	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.004	B	0.005	B	0.000	N	1.000	D	1.32	L	0.44	T	-1.026	T	0.082	T	0.172	2.066	12.87	2.05	0.562	2.601	6.759	0.053	.	0.0075	0.00199681	0.0046	0.0016	0.0034	0	0.0012	0.0073	0.0022	0.0005	0.0048382	748	154602	rs145890370	0.0078	0.0078	0.0079	0.0076	0.0095	0.0077	0.0076	0.0093	0.0093	0.0012	0.0044	0.0020	0	0.0011	0.0045	0.0095	0.0062	0.0007	0.0059	0.0059	0.0063	0.0055	0.0093	0.0056	0.0055	0.0087	0.0084	0.0016	0.0749	0.0067	0.0023	0	0.0004	0.0068	0.0093	0.0085	0.0002	0.138	0.36912	T	0.501	0.12421	T	0.004	0.12183	B	0.005	0.11217	B	0.000021	0.55875	N	0.110503	0.997106	0.81001	D	1.015	0.25427	L	0.44	0.56609	T	-1.05	0.27463	N	0.402	0.44283	-1.0256	0.21886	T	0.082	0.32207	T	10	0.0047282577	0.00100	T	.	.	.	0.053	0.14996	.	.	0.640176730838	0.63721	0.44252186420256223	0.44169	0.462690307121	0.45794	0.326105594635	0.14345	T	0.143268	0.47930	T	-0.472761	0.00817	T	-0.440834	0.28714	T	0.0106979267580685	0.00150	T	0.90181	0.77081	D	0.09478878	0.22293	0.06715297	0.13852	0.09319374	0.21883	0.068979725	0.14474	-6.023	0.46472	T	.	.	0.171	0.38782	B	.;.;.;.	.;.;.;.	3.517982	0.49300	22.8	0.99461422110096132	0.65840	0.87534	0.47104	D	AEFBCI	0.184135	0.31146	N	-0.360114045350746	0.26903	1.471862	-0.272192394900283	0.29019	1.622471	0.999995215711778	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	2.05	0.25860	2.729000	0.46998	3.359000	0.37844	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.698000	0.34080	0.1545:0.6588:0.0:0.1867	6.759	0.22719	929	0.16858	Ribosomal protein L7Ae/L30e/S12e/Gadd45;Ribosomal protein L7Ae/L30e/S12e/Gadd45;Ribosomal protein L7Ae/L30e/S12e/Gadd45;Ribosomal protein L7Ae/L30e/S12e/Gadd45	RMND5B|RP11-423H2.1|RMND5B|NHP2|RMND5B	Artery_Aorta|Brain_Cerebellar_Hemisphere|Cells_Cultured_fibroblasts|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic	NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2|NHP2	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Whole_Blood	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1067.98	34	chr5	178150922	.	C	T	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=800;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.39;SOR=0.844	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1082,0,1119	20	0	1	0
chr5	178931402	178931402	G	C	exonic	ZFP2	.	nonsynonymous SNV	ZFP2:NM_030613:exon5:c.G89C:p.S30T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.0	B	0.313	N	1.000	N	0	N	3.21	T	-0.963	T	0.009	T	0.068	-1.999	0.007	-0.9	-0.078	-0.188	0.963	0.043	0.00151442065933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.05061	T	0.361	0.16914	T	0.0	0.02946	B	0.0	0.01387	B	0.312931	0.14402	N	0.516842	1	0.08975	N	1.005	0.25186	L	3.21	0.07125	T	-0.97	0.25770	N	0.089	0.06720	-0.9627	0.38664	T	0.009	0.03227	T	10	0.056932807	0.06461	T	0.001514	0.02343	T	0.043	0.11576	0.216	0.13643	0.107399877778	0.10242	0.11090236824060135	0.11019	0.0309473511057	0.03205	0.223104715347	0.01497	T	0.025927	0.19289	T	-0.390203	0.02682	T	-0.798276	0.01946	T	0.0595517344772816	0.07098	T	0.00688878	0.00029	T	0.055096593	0.10661	0.048267376	0.07133	0.055096593	0.10660	0.048267376	0.07133	-3.879	0.21988	T	.	.	0.073	0.05188	B	.;.;.	.;.;.	0.242586	0.06227	2.679	0.6127406073401761	0.06668	0.00162	0.00966	N	AEFBCI	0.043497	0.06883	N	-1.10322947722228	0.06585	0.3035718	-1.1184435402082	0.07347	0.3570594	2.75153718579354E-4	0.06300	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.52	-0.9	0.10008	-0.284000	0.08456	-0.347000	0.09772	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.3673:0.1518:0.3257:0.1552	0.963	0.01313	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1245.98	36	chr5	178931402	.	G	C	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.550e-01;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-9.140e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:40,54:94:99:1260,0,881	20	0	1	0
chr5	179345258	179345258	-	GCAGCAGCAGCAGCA	exonic	ADAMTS2	.	nonframeshift insertion	ADAMTS2:NM_014244:exon1:c.70_71insTGCTGCTGCTGCTGC:p.L23_P24insLLLLL	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686341	Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs568040559	2.123e-05	1.574e-05	1.933e-05	2.33e-05	0.0003	1.364e-05	1.157e-05	0.0001	8.041e-05	0.0001	0	0	0.0003	0	0	1.617e-05	0	0	2.04e-05	1.989e-05	1.326e-05	2.791e-05	0.0001	5.42e-06	2.5e-06	2.312e-05	9.26e-06	2.496e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5145.56	17	chr5	179345258	.	G	GGCA,GGCAGCAGCAGCAGCA	5145.56	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-2.730e-01;DP=757;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-2.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:92,70,0:175:99:2529,0,3507,2854,3737,6735	14	0	6	0
chr5	179766127	179766127	G	A	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon2:c.G1117A:p.A373T,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.968	D	0.569	P	0.030	N	0.929	N	1.24	L	1.88	T	-1.063	T	0.052	T	0.1	2.229	13.41	2.05	0.108	1.406	6.068	0.029	0.00705784391548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486672153	7.732e-06	1.3e-05	4.178e-06	1.136e-05	9.979e-05	4.15e-06	3.03e-06	4.88e-05	3.59e-05	0	0	0	0	0	0	9.144e-07	3.418e-05	9.979e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.722	0.05309	T	0.532	0.37747	P	0.079	0.28749	B	0.029832	0.25397	N	0.366248	0.929145	0.27103	N	1.585	0.39878	L	1.88	0.23884	T	-0.11	0.08653	N	0.091	0.06990	-1.0631	0.10997	T	0.052	0.22153	T	10	0.15491086	0.29210	T	0.007058	0.18704	T	0.029	0.06676	0.193	0.10437	0.2338531098	0.23012	0.41701750901651596	0.41617	0.112657539828	0.12719	0.451082408428	0.32092	T	0.347881	0.71594	T	-0.269989	0.11759	T	-0.625597	0.10751	T	0.35590118548102	0.27249	T	.	.	.	0.018038608	0.00326	0.039568305	0.04079	0.018038608	0.00326	0.039568305	0.04078	-4.29	0.28037	T	.	.	0.064	0.01786	B	.	.	1.461042	0.18836	13.95	0.99308587240994672	0.58906	0.93360	0.58009	D	AEFBI	0.233804	0.35666	N	-0.161536616601307	0.34744	1.986996	-0.131670965149399	0.34122	1.959232	0.999680776084353	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	4.88	2.05	0.25860	1.148000	0.31226	2.512000	0.33079	-0.169000	0.11342	0.993000	0.37899	0.997000	0.33255	0.100000	0.18284	0.2227:0.0:0.645:0.1323	6.068	0.19100	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	826.98	33	chr5	179766127	.	G	A	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=788;ExcessHet=0.0000;FS=3.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.015;SOR=1.121	GT:AD:DP:GQ:PL	0/1:40,37:77:99:841,0,722	20	0	1	0
chr6	1611907	1611912	GCGGCG	-	exonic	FOXC1	.	nonframeshift deletion	FOXC1:NM_001453:exon1:c.1462_1467del:p.A494_A495del,	Anterior segment dysgenesis 3, multiple subtypes, Autosomal dominant;Axenfeld-Rieger syndrome, type 3, Autosomal dominant	.	0	223	3	0	0	3	0.00668151	.	.	585646	not_provided|Axenfeld-Rieger_syndrome_type_3	MedGen:C3661900|MONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482,Orphanet:782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0	0	0	0	0.0033	0	0.0026	0.0002781	43	154602	rs771540524	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0023	0.0020	0	0.0004	0.0019	2.8e-05	0	0.0035	0.0003	0.0006	0.0021	0.0004	0.0004	0.0003	0.0004	0.0026	0.0003	0.0003	0.0014	0.0011	5.273e-05	0	0.0005	0.0009	0	0	0.0049	0.0005	0.0005	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3396.07	35	chr6	1611906	.	CGCGGCG	C	3396.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.976;DP=968;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=20.83;ReadPosRankSum=0.469;SOR=0.743	GT:AD:DP:GQ:PL	0/1:37,51:88:99:1995,0,1358	19	0	2	0
chr6	6318558	6318558	A	C	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon2:c.T107G:p.V36G,	Factor XIIIA deficiency, Autosomal recessive	.	5	1516	1	0	0	1	0.000329707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.343	B	0.086	B	0.264	N	0.987	D	0.55	N	-2.18	D	-0.836	T	0.251	T	0.434	0.727	7.867	2.24	0.297	1.611	6.994	0.022	0.0441201192041	.	.	8.239e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs752589234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.377	0.20002	T	0.472	0.12176	T	.	.	.	.	.	.	0.264180	0.03729	N	1.513960	0.987008	0.40520	D	.	.	.	-2.18	0.86722	D	-0.42	0.34397	N	0.343	0.38438	-0.8360	0.52911	T	0.251	0.62061	T	10	0.51120746	0.62107	D	0.04412	0.61328	D	0.293	0.61272	0.719	0.85408	0.565612946506	0.56225	0.5973971835976073	0.59670	0.315469477035	0.33826	0.334423363209	0.15601	T	0.032192	0.22378	T	0.0253228	0.55098	T	-0.201402	0.54513	T	0.0736743761387657	0.09157	T	0.506149	0.16021	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.41962	B	.;.;.	.;.;.	0.953291	0.13297	9.797	0.96087464379585696	0.28674	0.61228	0.31424	D	AEFDBI	0.323817	0.42590	N	-0.809771320134144	0.13059	0.640783	-0.755256463799931	0.15593	0.8208847	0.999974786444924	0.50053	0.615465	0.37627	0	0.633656	0.55848	0	0.298653	0.05632	1	0.542086	0.14980	0	.	.	4.64	2.24	0.27264	1.770000	0.38162	1.460000	0.26674	-0.064000	0.16601	0.897000	0.31356	0.140000	0.23083	0.026000	0.12556	0.815:0.0:0.185:0.0	6.994	0.23951	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1411.98	34	chr6	6318558	.	A	C	1411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=833;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=0.588;SOR=0.787	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1426,0,1256	20	0	1	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:78,49,0,0,0,0:128:99:2215,0,2789,2215,3020,5381,2215,3020,5381,5381,2215,3020,5381,5381,5381,2215,3020,5381,5381,5381,5381	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:78,49,0,0,0,0:128:99:2215,0,2789,2215,3020,5381,2215,3020,5381,5381,2215,3020,5381,5381,5381,2215,3020,5381,5381,5381,5381	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:78,49,0,0,0,0:128:99:2215,0,2789,2215,3020,5381,2215,3020,5381,5381,2215,3020,5381,5381,5381,2215,3020,5381,5381,5381,5381	9	0	3	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:26,9,7:42:68:83,0,296,68,255,375	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:26,9,7:42:68:83,0,296,68,255,375	2	0	6	2
chr6	25861983	25861983	C	T	exonic	SLC17A3	.	nonsynonymous SNV	SLC17A3:NM_001098486:exon4:c.G350A:p.G117D,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.952	D	.	.	1.000	N	2.795	M	0.29	T	-0.866	T	0.237	T	0.214	1.340	10.40	0.663	0.106	0.792	6.659	0.159	0.0248396551696	7.9e-05	.	0.0001	0	0	0	0	5.71e-05	0	0.0005	6.47e-05	10	154602	rs376483140	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	5.98e-05	0	0	0	0	0.0007	0.0001	8.29e-05	0.0004	6.575e-05	6.567e-05	8.997e-05	4.038e-05	0.0004	3.519e-05	2.618e-05	7.296e-05	3.031e-05	4.83e-05	0	0	0	0	0	0	8.821e-05	0	0.0004	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.29	0.58897	T	-0.92	0.24676	N	0.666	0.67477	-0.8664	0.50798	T	0.237	0.60415	T	9	0.5032596	0.61671	D	0.02484	0.47825	T	0.159	0.41286	.	.	0.31077124679	0.30691	0.698621310130499	0.69803	0.135011463616	0.15216	0.287032544613	0.08491	T	.	.	.	-0.377804	0.03216	T	-0.462393	0.26338	T	0.188865751028061	0.19777	T	0.708429	0.31914	T	.	.	.	.	.	.	.	.	-13.18	0.90090	D	.	.	0.804	0.77452	P	.	.	2.503182	0.32318	19.01	0.99406058455332746	0.63028	0.04708	0.10398	N	AEFBI	0.118049	0.23099	N	-0.255219070110164	0.30896	1.727086	-0.533050330275576	0.21258	1.149138	0.00461435799948272	0.10641	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.58	0.663	0.17054	1.004000	0.29423	1.737000	0.28371	-0.178000	0.10482	0.005000	0.17040	0.010000	0.20010	0.071000	0.16709	0.1934:0.43:0.3766:0.0	6.659	0.22193	551	0.72115	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1629.98	34	chr6	25861983	.	C	T	1629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.844;SOR=0.658	GT:AD:DP:GQ:PL	0/1:47,67:114:99:1644,0,982	20	0	1	0
chr6	27957616	27957616	A	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.A376G:p.I126V,	.	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.05	B	0.005	U	0.639	D	1.48	L	0.73	T	-1.065	T	0.042	T	0.313	-0.361	2.299	3.68	1.598	4.748	10.916	0.105	.	0.0005	0.00479233	0.0059	0.0010	0.0007	0.0003	0	0.0002	0.0033	0.0409	0.0048576	751	154602	rs143223456	0.0028	0.0028	0.0014	0.0042	0.0425	0.0027	0.0027	0.0413	0.0409	0.0013	0.0001	0.0007	0.0005	0	0.0102	0.0002	0.0015	0.0425	0.0014	0.0014	0.0009	0.0020	0.0344	0.0013	0.0012	0.0302	0.0285	0.0007	0	6.55e-05	0.0006	0.0019	0	0	8.825e-05	0.0005	0.0344	0.903	0.02407	T	1.0	0.01155	T	0.008	0.14655	B	0.05	0.25278	B	0.004577	0.33608	U	0.000000	0.638709	0.32856	D	0.57	0.15267	N	0.73	0.50721	T	-0.08	0.08187	N	0.508	0.53972	-1.0650	0.10549	T	0.042	0.17869	T	10	0.006839961	0.00155	T	.	.	.	0.105	0.29889	.	.	0.54456359225	0.54111	0.14947189597647004	0.14869	0.0639061766001	0.07121	0.325245440006	0.14215	T	0.005922	0.05364	T	-0.457479	0.01019	T	-0.431387	0.29779	T	0.0305732340930483	0.02079	T	0.622038	0.23930	T	0.06276232	0.13143	0.062467888	0.12226	0.06276232	0.13143	0.062467888	0.12225	-4.159	0.26155	T	.	.	0.097	0.15877	B	.	.	1.988445	0.25265	16.70	0.39403202385802433	0.02717	0.97488	0.75073	D	AEFGBI	0.466915	0.51436	N	-0.377714764813272	0.26264	1.432113	-0.258030348275566	0.29496	1.652963	0.998758606467048	0.37602	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.68	3.68	0.41359	6.849000	0.75212	0.068000	0.14222	0.752000	0.88150	1.000000	0.71638	0.000000	0.08366	0.996000	0.76049	1.0:0.0:0.0:0.0	10.916	0.46346	481	0.77356	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1039.98	33	chr6	27957616	.	A	G	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.535e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.54;ReadPosRankSum=-1.601e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1054,0,1372	20	0	1	0
chr6	28529593	28529593	C	T	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.C230T:p.A77V	.	.	437	1053	31	1	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.966	D	0.356	B	0.841	N	1.000	N	0.515	N	3.12	T	-0.979	T	0.004	T	0.114	1.483	10.91	-0.199	-0.076	-0.360	3.265	0.104	0.0034201727032	0.0014	0.00159744	0.0028	0	0.0015	0.0003	0	0.0025	0.0067	0.0090	0.0023932	370	154602	rs145161873	0.0018	0.0018	0.0014	0.0021	0.0113	0.0017	0.0017	0.0091	0.0086	9.019e-05	0.0013	0.0291	0.0002	0	0.0113	0.0006	0.0038	0.0093	0.0013	0.0013	0.0013	0.0013	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0009	0.0254	0	0	0.0136	0.0006	0.0014	0.0089	0.653	0.19293	T	0.57	0.39190	T	0.068	0.23728	B	0.007	0.12992	B	0.841296	0.07001	N	1.076350	1	0.08975	N	-0.69	0.01958	N	3.12	0.08106	T	0.39	0.22508	N	0.146	0.25499	-0.9785	0.35345	T	0.004	0.01400	T	10	0.0074159503	0.00169	T	0.00342	0.07694	T	0.104	0.29647	.	.	0.197625483188	0.19356	0.1980378864844265	0.19720	0.14692160482	0.16579	0.291478693485	0.09137	T	0.027063	0.19900	T	-0.685696	0.00044	T	-0.750198	0.03478	T	0.025681993804498	0.01363	T	.	.	.	0.123513326	0.29001	0.1075086	0.25882	0.123513326	0.29001	0.1075086	0.25881	-3.861	0.35814	T	.	.	0.109	0.20702	B	.;.	.;.	1.372705	0.17831	13.39	0.95041436406744417	0.26048	0.01455	0.04870	N	AEFBI	0.035921	0.04701	N	-0.934270913760009	0.10048	0.4783497	-0.976882144630471	0.10305	0.5181954	0.304501700985108	0.19223	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	-0.199	0.12571	-0.098000	0.10993	-0.926000	0.06901	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.1861:0.3887:0.0:0.4252	3.265	0.06457	675	0.60470	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1899.11	40	chr6	28529593	.	C	T	1899.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.96;DP=850;ExcessHet=0.1072;FS=1.960;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-5.940e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1066,0,692	19	0	2	0
chr6	29588710	29588710	G	A	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.G766A:p.V256I,	.	.	439	1058	25	0	0	25	0.0116768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.127	B	0.122	B	0.042	N	1.000	N	0.595	N	8.74	T	-1.026	T	0.000	T	0.349	1.344	10.42	4.1	2.095	1.006	6.149	0.103	.	0.0001	0.00599042	0.0067	0.0001	0.0006	0.0005	0	0.0004	0.0034	0.0451	0.0052975	819	154602	rs147023039	0.0030	0.0029	0.0014	0.0046	0.0443	0.0029	0.0029	0.0432	0.0427	3.211e-05	8.969e-05	0.0007	0.0004	0	0.0094	0.0002	0.0012	0.0443	0.0014	0.0014	0.0008	0.0019	0.0365	0.0012	0.0011	0.0321	0.0304	2.406e-05	0	6.533e-05	0.0006	0.0023	0	0	0.0002	0.0005	0.0365	0.21	0.19639	T	0.205	0.27145	T	0.127	0.26966	B	0.122	0.32387	B	0.042437	0.23843	N	0.209202	0.999996	0.58761	D	-0.17	0.04298	N	8.74	0.00084	T	-0.33	0.12472	N	0.178	0.19190	-1.0256	0.21886	T	0.000	0.00039	T	10	0.0038820803	0.00074	T	.	.	.	0.103	0.29403	.	.	0.16115917748	0.15686	0.052412846359074824	0.05183	0.16524632657	0.18640	0.215086326003	0.01045	T	0.002115	0.01518	T	-0.513781	0.00478	T	-0.476479	0.24821	T	0.0367894765877239	0.03119	T	.	.	.	0.06785004	0.14732	0.2535041	0.50999	0.06785004	0.14732	0.2535041	0.50998	-3.542	0.17025	T	.	.	0.089	0.12938	B	.;.	.;.	2.122607	0.27015	17.32	0.97411633701978251	0.33825	0.11678	0.16791	N	AEFBI	0.063953	0.12390	N	-0.379795791006554	0.26189	1.427469	-0.288588738300988	0.28473	1.587876	0.195256041529539	0.18050	0.421363	0.06395	0	0.563428	0.19063	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	4.1	4.1	0.47196	1.328000	0.33364	.	.	0.618000	0.50648	0.001000	0.13787	0.000000	0.08366	0.995000	0.73285	0.2114:0.0:0.7885:0.0	6.149	0.19517	846	0.36215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	796.98	40	chr6	29588710	.	G	A	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=930;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.71;MQRankSum=0.030;QD=12.08;ReadPosRankSum=-8.530e-01;SOR=0.968	GT:AD:DP:GQ:PL	0/1:34,32:66:99:811,0,805	20	0	1	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W	.	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.690	U	0.991	N	3.54	H	5.54	T	-0.994	T	0.009	T	0.742	2.152	13.15	1.87	0.363	0.209	5.323	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	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	0.119	926.44	142	chr6	29942795	.	C	T	926.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-8.950e-01;DP=2773;ExcessHet=1.1607;FS=4.085;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.24;MQRankSum=-6.125e+00;QD=1.24;ReadPosRankSum=2.87;SOR=0.953	GT:AD:DP:GQ:PL	0/1:193,19:212:99:217,0,7777	16	0	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,66,0:144:99:0|1:29942982_T_C:2506,0,3036,2740,3234,5975:29942982	3	4	8	2
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,33,0:118:99:.:.:544,0,2197,798,2296,3095	6	0	13	1
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,43,0:115:99:0|1:31028713_C_T:1515,0,2640,1732,2769,4501:31028713	9	2	8	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,104,0,0:260:99:0|1:31029812_T_G:862,0,5885,1329,6092,7421,1329,6092,7421,7421:31029812	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,104,0,0:260:99:0|1:31029812_T_G:862,0,5885,1329,6092,7421,1329,6092,7421,7421:31029812	8	0	6	2
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5569.5	583	chr6	31029828	.	A	C,*	5569.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-1.683e+00;DP=14086;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.56;MQRankSum=-4.977e+00;QD=1.04;ReadPosRankSum=-8.380e+00;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:173,0,104:277:99:0|1:31029812_T_G:810,1329,8301,0,6972,6765:31029812	14	0	2	1
chr6	31029837	31029839	GTA	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4406_4408del:p.C1469_T1470delinsS	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0	0	0	.	0	0	0.0001	.	.	.	rs775610649	0.0023	0.0032	0.0022	0.0024	0.0049	0.0022	0.0022	0.0043	0.0040	0.0009	0.0049	0.0030	0.0036	0.0157	0.0033	0.0018	0.0031	0.0023	0.0026	0.0070	0.0025	0.0026	0.0036	0.0023	0.0023	0.0028	0.0026	0.0008	0.0046	0.0036	0.0024	0.0004	0.0056	0.0036	0.0031	0.0029	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:173,0,104:277:99:0|1:31029812_T_G:810,1329,8301,0,6972,6765:31029812	15	0	2	0
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:173,0,104:277:99:0|1:31029812_T_G:810,1329,8301,0,6972,6765:31029812	15	0	2	0
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2266.5	583	chr6	31029847	.	T	C,*	2266.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=2.16;DP=13767;ExcessHet=1.7912;FS=0.695;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.71;MQRankSum=-4.957e+00;QD=0.44;ReadPosRankSum=-1.045e+01;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:165,0,86:251:99:0|1:31029812_T_G:688,1184,8113,0,6928,6750:31029812	14	0	2	1
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,26,0:68:99:.:.:609,0,1019,720,1173,2016	4	3	9	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M	.	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.035	B	.	.	1.000	P	2.105	M	5.37	T	-0.965	T	0.002	T	0.376	-0.110	3.463	-1.63	-0.380	0.547	3.715	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	24199.8	109	chr6	31270002	.	C	T	24199.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-8.100e-01;DP=3021;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=59.14;MQRankSum=-1.400e-01;QD=18.73;ReadPosRankSum=-1.480e-01;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,42:90:99:.:.:1619,0,1792	12	1	8	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,109,0:109:99:.:.:3764,327,0,3764,327,3764	0	13	5	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I	.	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.005	B	0.002	U	1.000	P	3.3	M	4.31	T	-1.111	T	0.009	T	0.422	-0.903	0.431	2.67	1.821	0.868	9.019	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	10478.8	66	chr6	31270250	.	C	A	10478.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.683;DP=1987;ExcessHet=1.5138;FS=6.263;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=51.19;MQRankSum=-1.731e+00;QD=13.25;ReadPosRankSum=-1.916e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,27:70:99:0|1:31270188_G_C:867,0,1577:31270188	12	1	8	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,73,0,0:159:99:.:.:2326,0,3380,2585,3600,6185,2585,3600,6185,6185	0	0	16	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,24,0:132:99:0|1:31271337_G_T:673,0,4457,999,4530,5528:31271337	9	2	9	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G,	.	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.017	N	0.986	N	-3.21	N	4.34	T	-1.015	T	0.000	T	0.312	0.549	6.971	1.33	0.182	0.951	7.857	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.2381	3496.72	194	chr6	31355425	.	T	C	3496.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.611;DP=3822;ExcessHet=6.1002;FS=21.379;InbreedingCoeff=-0.3069;MLEAC=10;MLEAF=0.238;MQ=58.03;MQRankSum=-1.346e+01;QD=1.73;ReadPosRankSum=-2.710e-01;SOR=1.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,22:190:59:.:.:59,0,4226	11	0	10	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51,0:51:99:1|1:31356168_A_C:2254,153,0,2254,153,2254:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,31,0:114:99:.:.:825,0,2628,1074,2722,3796	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:2,8,35:45:99:0|1:31356399_C_G:1716,1386,1446,252,0,231:31356399	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:42,0,17:59:99:0|1:31356711_C_CGGAG:587,714,2477,0,1764,1712:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,17,0:61:99:0|1:31356711_C_CGGAG:581,0,1783,714,1834,2548:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:44,0,17:61:99:0|1:31356711_C_CGGAG:581,714,2548,0,1834,1783:31356711	9	1	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,76,0:76:99:1|1:31356739_C_A:3415,229,0,3415,229,3415:31356739	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,167:167:99:1|1:31356809_C_T:7475,7475,7475,503,503,0:31356809	0	5	0	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,73,0,42:115:99:.:.:5313,1798,1543,5107,1798,5072,3102,0,3102,2940	2	2	2	0
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S	.	.	411	1024	80	7	0	94	0.0438842	.	.	3221664	PRRC2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.99	D	0.676	P	0.038	N	0.994	D	0.55	N	4.59	T	-0.646	T	0.006	T	0.53	1.570	11.20	5.63	2.271	2.456	13.654	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2478.11	128	chr6	31637239	.	T	C	2478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.900e-02;DP=1376;ExcessHet=0.1072;FS=0.512;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-1.980e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:38,39:77:99:879,0,862	19	0	2	0
chr6	31710176	31710176	G	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon4:c.G797A:p.G266D	.	.	423	1017	75	7	0	89	0.0419218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.941	N	1.000	N	-0.55	N	2.52	T	-0.911	T	0.005	T	0.078	0.891	8.620	-0.08	-0.177	0.191	5.858	0.024	.	0.0060	0.00838658	0.0106	0.0071	0.0094	0.0014	0.0014	0.0098	0.0139	0.0253	0.0101422	1568	154602	rs61740977	0.0100	0.0100	0.0094	0.0106	0.0983	0.0099	0.0098	0.0916	0.0889	0.0066	0.0103	0.0241	0.0009	0.0009	0.0983	0.0087	0.0136	0.0245	0.0086	0.0086	0.0085	0.0087	0.0176	0.0082	0.0080	0.0146	0.0135	0.0066	0	0.0119	0.0236	0.0023	0.0007	0.0748	0.0088	0.0213	0.0176	0.792	0.18061	T	0.67	0.06305	T	0.0	0.02946	B	0.001	0.04355	B	0.940953	0.08354	N	0.971401	1	0.08975	N	1.385	0.34509	L	2.36	0.16089	T	-0.77	0.26200	N	0.134	0.13055	-0.9108	0.46756	T	0.005	0.01725	T	10	0.0036507547	0.00067	T	.	.	.	0.024	0.04979	.	.	.	.	0.17638048354673985	0.17557	0.0973658497453	0.21457	0.23227712512	0.02141	T	0.002959	0.02360	T	-0.691932	0.00041	T	-0.747765	0.03574	T	0.00386979524127015	0.00041	T	0.379462	0.09138	T	0.04546819	0.07448	0.08063304	0.18256	0.04546819	0.07448	0.08063304	0.18256	-4.892	0.35645	T	.	.	0.107	0.19958	B	.;.	.;.	0.522969	0.08917	5.698	0.70296732587708188	0.09250	0.01871	0.05765	N	AEFGBI	0.059164	0.11153	N	-1.55622397157654	0.01499	0.06542969	-1.50119969325627	0.02335	0.1072508	0.999911762167869	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-0.08	0.13042	0.206000	0.17174	.	.	-0.179000	0.10443	0.009000	0.18154	0.010000	0.20010	0.146000	0.20164	0.353:0.0:0.5128:0.1342	5.858	0.17980	889	0.27310	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs116179487	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1911.11	72	chr6	31710176	.	G	A	1911.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.21;DP=818;ExcessHet=0.1072;FS=3.286;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-1.580e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/1:18,33:51:99:822,0,382	19	0	2	0
chr6	32183681	32183681	G	A	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon3:c.C229T:p.R77C	.	.	425	1046	47	4	0	55	0.0256171	.	.	699533	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.020	N	0.998	N	2.015	M	2.59	T	-1.022	T	0.116	T	0.627	3.609	18.37	4.92	2.755	2.062	12.408	0.210	.	0.0038	0.00379393	0.0062	0.0010	0.0030	0.0012	0.0014	0.0069	0.0069	0.0129	0.0057244	885	154602	rs80096349	0.0060	0.0060	0.0057	0.0063	0.0713	0.0059	0.0059	0.0656	0.0633	0.0011	0.0032	0.0196	0.0008	0.0015	0.0713	0.0055	0.0075	0.0119	0.0040	0.0040	0.0041	0.0040	0.0089	0.0038	0.0037	0.0068	0.0061	0.0008	0	0.0033	0.0170	0.0017	0.0011	0.0510	0.0053	0.0142	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.975	0.73362	D	0.019678	0.27206	N	0.264487	0.997812	0.44218	D	2.555	0.74557	M	2.59	0.76819	T	-3.62	0.74504	D	0.653	0.66358	-1.0224	0.22932	T	0.116	0.41075	T	10	0.009007782	0.00204	T	.	.	.	0.210	0.50028	.	.	0.83781652485	0.83627	0.5061502679306237	0.50537	0.74405189753	0.63417	0.336748540401	0.15951	T	0.125662	0.51579	T	-0.214647	0.18729	T	-0.0707143	0.65576	T	0.0275203706682035	0.01619	T	0.990061	0.96935	D	0.4854292	0.66228	0.12334502	0.29743	0.4854292	0.66229	0.12334502	0.29742	-9.116	0.68440	D	.	.	0.244	0.47827	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.613194	0.73176	25.9	0.99928084643267145	0.99222	0.34279	0.25030	N	AEFDBCI	0.132251	0.25148	N	0.418674211724003	0.62448	4.461013	0.33590809541981	0.57662	3.932906	0.999999993790173	0.74766	0.634777	0.41761	0	0.552637	0.17590	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	5.82	4.92	0.64147	2.130000	0.41687	.	.	0.618000	0.50648	0.090000	0.22578	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8334:0.1665	12.408	0.54783	929	0.16858	.;.;.;.;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1360.98	65	chr6	32183681	.	G	A	1360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e-01;DP=1240;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-5.700e-02;SOR=0.616	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1375,0,1083	20	0	1	0
chr6	32192154	32192154	G	C	exonic	GPSM3	.	nonsynonymous SNV	GPSM3:NM_001276501:exon2:c.C139G:p.H47D	.	.	410	1060	48	4	0	56	0.0257353	.	.	699536	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.004	B	0.357	U	0.788	N	0.55	N	.	.	-1.023	T	0.025	T	0.256	-0.992	0.273	1.81	0.709	1.481	6.930	0.023	.	0.0073	0.0061901	0.0066	0.0098	0.0060	0.0012	0.0013	0.0069	0.0091	0.0108	0.0058925	911	154602	rs148125791	0.0067	0.0066	0.0064	0.0069	0.0808	0.0066	0.0065	0.0744	0.0718	0.0087	0.0067	0.0203	0.0008	0.0015	0.0808	0.0060	0.0089	0.0117	0.0070	0.0070	0.0068	0.0072	0.0091	0.0067	0.0065	0.0080	0.0077	0.0088	0	0.0076	0.0179	0.0017	0.0011	0.0680	0.0059	0.0180	0.0091	0.084	0.32929	T	0.831	0.03852	T	0.001	0.07471	B	0.004	0.10090	B	0.356866	0.13730	U	0.619103	0.788139	0.29257	N	0.805	0.20218	L	.	.	.	0.09	0.06138	N	0.304	0.42050	-1.0233	0.22638	T	0.025	0.10553	T	9	0.004505217	0.00093	T	.	.	.	0.023	0.04649	.	.	0.043077524339	0.03247	0.20364634683512572	0.20281	0.62489570063	0.56679	0.689792633057	0.65676	T	0.013766	0.11844	T	-0.486729	0.00677	T	-0.461541	0.26431	T	0.0015793075113103	0.00016	T	0.59504	0.22051	T	0.07228547	0.16068	0.070643276	0.15035	0.07228547	0.16067	0.070643276	0.15034	-2.883	0.08974	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	1.395790	0.18093	13.54	0.54812258607588749	0.05213	0.28990	0.23703	N	AEFDBHCI	0.298807	0.40802	N	-0.977740949507368	0.09080	0.4283037	-0.945021066886185	0.11039	0.5599214	0.999999359385914	0.74766	0.489673	0.17934	0	0.52208	0.09955	0	0.584781	0.30282	0	0.662433	0.64102	0	.	.	2.69	1.81	0.24139	0.980000	0.29111	.	.	-0.191000	0.09375	0.048000	0.21332	0.426000	0.24831	0.823000	0.38780	0.0:0.0:0.7268:0.2732	6.930	0.23615	934	0.15400	.;.;.	.	.	.	.	rs148125791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	435.98	33	chr6	32192154	.	G	C	435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.751;DP=770;ExcessHet=0.0000;FS=2.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.79;ReadPosRankSum=-5.670e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:35,21:56:99:450,0,839	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:45,44,0,0,0:92:99:1663,0,1669,1824,1842,3802,1824,1842,3802,3802,1824,1842,3802,3802,3802	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:45,44,0,0,0:92:99:1663,0,1669,1824,1842,3802,1824,1842,3802,3802,1824,1842,3802,3802,3802	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:45,44,0,0,0:92:99:1663,0,1669,1824,1842,3802,1824,1842,3802,3802,1824,1842,3802,3802,3802	0	1	4	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:67,0,18:85:99:0|1:32521954_G_C:554,756,3569,0,2813,2759:32521954	9	0	2	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:80,0,18,0:98:99:0|1:32521954_G_C:515,756,4115,0,3359,3305,756,4115,3359,4115:32521954	4	5	4	1
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,48,0,0:126:99:0|1:32530184_T_G:1781,0,3110,2011,3258,5273,2011,3258,5273,5273:32530184	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:77,0,1,48:126:99:0|1:32530184_T_G:1784,2011,5251,1959,5204,5208,0,3236,3194,3089:32530184	0	1	0	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:72,0,15,0:87:99:0|1:32584151_G_A:413,630,3653,0,3023,2978,630,3653,3023,3653:32584151	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:79,0,15:94:99:0|1:32584151_G_A:392,630,3909,0,3279,3234:32584151	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:79,0,15:94:99:0|1:32584151_G_A:392,630,3909,0,3279,3234:32584151	3	0	1	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3600.15	264	chr6	32584318	.	C	*,T	3600.15	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=-8.230e-01;DP=7428;ExcessHet=4.7172;FS=0.567;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.167,0.048;MQ=53.39;MQRankSum=-4.724e+00;QD=1.58;ReadPosRankSum=1.92;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:80,15,45:140:99:0|1:32584303_T_A:1649,1260,4574,0,2729,3224:32584303	12	0	7	0
chr6	32584352	32584352	C	0	exonic	HLA-DRB1	.	.	.	.	.	1	176	25	0	24	49	0.066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3438.47	189	chr6	32584352	.	C	CATGTTTAA,*	3438.47	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=3.60;DP=6521;ExcessHet=1.7912;FS=13.879;InbreedingCoeff=-0.1667;MLEAC=3,3;MLEAF=0.071,0.071;MQ=50.14;MQRankSum=-7.080e+00;QD=3.33;ReadPosRankSum=-2.932e+00;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:52,0,31:83:99:0|1:32584303_T_A:1145,1302,3485,0,2183,2090:32584303	15	0	3	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:49,2,30:81:99:0|1:32584319_G_*:1112,1176,3207,0,1956,1967:32584319	1	9	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.049	B	0.034	B	0.131	N	1.000	N	1.61	L	8.43	T	-0.941	T	0.000	T	0.415	0.078	4.424	2.05	0.270	1.241	5.311	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	10724.01	323	chr6	32589684	.	A	G	10724.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.231e+00;DP=4752;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=49.04;MQRankSum=-7.090e-01;QD=4.29;ReadPosRankSum=0.302;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,43:229:99:0|1:32589684_A_G:1246,0,7660:32589684	12	0	9	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:52,0,11:63:99:0|1:32664911_T_G:305,462,2645,0,2183,2150:32664911	5	3	5	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L	.	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.100	U	0.722	N	2.475	M	8.26	T	-0.988	T	0.001	T	0.485	1.832	12.08	0.064	-0.130	-0.282	10.579	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.2143	7784.99	221	chr6	32664926	.	G	A	7784.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=5.16;DP=5217;ExcessHet=0.9430;FS=0.663;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=58.26;MQRankSum=-8.878e+00;QD=5.88;ReadPosRankSum=-3.053e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,11:60:99:0|1:32664911_T_G:314,0,2024:32664911	13	1	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,85:85:99:1|1:32666523_G_C:3825,3825,3825,256,256,0:32666523	1	1	0	0
chr6	33405564	33405564	C	T	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.C1469T:p.A490V,	.	.	425	1066	29	2	0	33	0.0152425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.21	B	0.066	B	0.011	N	0.998	D	0.595	N	-0.93	T	-0.963	T	0.117	T	0.593	1.280	10.18	5.22	2.720	2.994	9.656	0.274	.	0.0072	0.00858626	0.0095	0.0052	0.0071	0.0127	0.0035	0.0092	0.0066	0.0184	0.0086739	1341	154602	rs7770412	0.0074	0.0074	0.0071	0.0077	0.0178	0.0073	0.0072	0.0150	0.0139	0.0065	0.0079	0.0186	0.0067	0.0024	0.0178	0.0068	0.0083	0.0140	0.0074	0.0074	0.0071	0.0077	0.0124	0.0070	0.0069	0.0099	0.0090	0.0056	0.0132	0.0096	0.0176	0.0073	0.0019	0.0204	0.0080	0.0052	0.0124	0.645	0.04928	T	0.674	0.06225	T	0.21	0.29968	B	0.066	0.27432	B	0.010904	0.29736	N	0.346115	0.998463	0.44953	D	0.49	0.13296	N	-0.93	0.75215	T	0.18	0.05035	N	0.187	0.20395	-0.9628	0.38645	T	0.117	0.41209	T	10	0.0070747435	0.00161	T	.	.	.	0.274	0.59007	.	.	0.81423568031	0.81249	0.16008107338493377	0.15929	0.439190015724	0.43938	0.518590450287	0.41427	T	0.076979	0.35547	T	-0.317038	0.07144	T	-0.215856	0.53135	T	0.0101235349817283	0.00136	T	.	.	.	0.0656567	0.14054	0.101992846	0.24433	0.0656567	0.14054	0.101992846	0.24432	-5.35	0.40435	T	.	.	0.088	0.11606	B	.	.	2.194937	0.27991	17.65	0.90275010401178402	0.19544	0.75607	0.37027	D	AEFBHCI	0.285867	0.39839	N	-0.053084565492623	0.39465	2.327701	0.137089740257219	0.46463	2.891774	0.999999981308219	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.198000	0.42339	4.000000	0.41065	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.967000	0.53440	0.0:0.9081:0.0:0.0919	9.656	0.39087	366	0.84579	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1480.11	33	chr6	33405564	.	C	T	1480.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.200e-02;DP=819;ExcessHet=0.1072;FS=0.629;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-1.260e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:45,24:69:99:436,0,1020	19	0	2	0
chr6	35943976	35943976	C	T	exonic	SLC26A8	.	nonsynonymous SNV	SLC26A8:NM_138718:exon18:c.G2522A:p.R841Q	Spermatogenic failure 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.003	B	0.001	B	0.158	N	1.000	N	-0.145	N	-3.11	D	-0.486	T	0.334	T	0.117	0.930	8.787	-8.64	-1.885	-1.412	11.496	0.214	0.111018889325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	4.104e-06	2.722e-06	4.125e-06	2.987e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	1.159e-05	1.314e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0	0.0002	0.323	0.15665	T	0.328	0.18846	T	0.002	0.11197	B	0.0	0.04355	B	0.158182	0.03017	N	1.748100	1	0.08975	N	0.09	0.08384	N	-3.11	0.94388	D	-0.62	0.18248	N	0.099	0.08786	-0.4860	0.69151	T	0.334	0.70134	T	10	0.07530531	0.11623	T	0.111019	0.78863	D	0.214	0.50650	0.209	0.12639	0.332646915603	0.32870	0.0856976983065456	0.08503	0.243319615468	0.26841	0.178246945143	0.00079	T	0.040327	0.25489	T	-0.12064	0.33019	T	-0.411067	0.32103	T	0.0858097113000814	0.10713	T	0.426357	0.11459	T	0.020523733	0.00614	0.027566524	0.00918	0.020523733	0.00614	0.027566524	0.00918	-2.517	0.05898	T	.	.	0.073	0.11606	B	.;.;.	.;.;.	-0.438324	0.02073	0.191	0.79455541403980023	0.12750	0.00211	0.01201	N	AEFDI	0.032088	0.03557	N	-2.03018149229186	0.00182	0.007798888	-2.09114761793144	0.00195	0.008574081	0.98532660489961	0.30868	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	-8.64	0.00758	-1.347000	0.02739	-2.605000	0.03557	-3.621000	0.00071	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1052:0.1469:0.0:0.7478	11.496	0.49659	513	0.74941	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	922.98	33	chr6	35943976	.	C	T	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=0.267;SOR=0.703	GT:AD:DP:GQ:PL	0/1:55,41:96:99:937,0,1241	20	0	1	0
chr6	35955364	35955364	C	T	exonic	SLC26A8	.	nonsynonymous SNV	SLC26A8:NM_138718:exon15:c.G1705A:p.G569R	Spermatogenic failure 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.996	D	0.906	P	0.624	N	1.000	N	1.32	L	-3.54	D	0.011	D	0.742	D	0.397	2.751	15.16	-0.385	0.075	0.028	2.820	0.284	0.202541720929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.36113	T	0.075	0.43913	T	0.976	0.65571	D	0.9	0.63913	P	0.624424	0.05775	N	1.207050	1	0.08975	N	1.75	0.45442	L	-3.54	0.96047	D	-3.43	0.67359	D	0.227	0.25745	0.011	0.82483	D	0.742	0.91173	D	10	0.2364229	0.40724	T	0.202542	0.86826	D	0.284	0.60219	0.299	0.26522	0.631704462594	0.62868	0.4425650226245702	0.44173	0.347595861932	0.36646	0.315870344639	0.12795	T	0.307994	0.68011	T	0.126074	0.66976	D	-0.0566801	0.66562	D	0.865066587924957	0.51520	D	0.611839	0.23263	T	0.15164201	0.34462	0.22416304	0.47319	0.15164201	0.34462	0.22416304	0.47318	-3.803	0.20849	T	.	.	0.128	0.28521	B	.;.;.	.;.;.	2.144065	0.27302	17.42	0.984715923625473	0.41861	0.01390	0.04723	N	AEFDGBI	0.066455	0.13014	N	-0.530873785761624	0.21088	1.116537	-0.741101899223181	0.15940	0.84091	0.807334950032425	0.24293	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.525792	0.08840	0	.	.	5.01	-0.385	0.11849	0.370000	0.20166	0.144000	0.15210	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3366:0.3644:0.0:0.2989	2.820	0.05131	552	0.72024	STAS domain|STAS domain;.;STAS domain|STAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1598.98	36	chr6	35955364	.	C	T	1598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=0.974;SOR=0.631	GT:AD:DP:GQ:PL	0/1:50,65:115:99:1613,0,1098	20	0	1	0
chr6	36225308	36225308	G	A	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon11:c.G3223A:p.E1075K,	.	.	420	1075	26	1	0	28	0.0128558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.953	D	0.000	D	1.000	N	2.17	M	-0.52	T	-0.445	T	0.413	T	0.81	7.645	39	6.04	2.873	6.608	15.993	0.442	.	0.0083	0.00559105	0.0083	0.0012	0.0049	0	0.0091	0.0105	0.0112	0.0103	0.0082987	1283	154602	rs142171063	0.0094	0.0094	0.0091	0.0097	0.0135	0.0092	0.0092	0.0111	0.0102	0.0020	0.0055	0.0052	0.0002	0.0081	0.0135	0.0102	0.0091	0.0093	0.0075	0.0075	0.0074	0.0076	0.0120	0.0071	0.0070	0.0113	0.0110	0.0014	0.0022	0.0078	0.0052	0.0002	0.0064	0.0170	0.0120	0.0081	0.0074	0.005	0.63226	D	0.086	0.43721	T	0.912	0.50421	P	0.498	0.47596	P	0.000089	0.51296	D	0.129355	0.99986	0.81001	D	1.765	0.45800	L	-0.52	0.70717	T	-2.66	0.58248	D	0.903	0.90363	-0.4452	0.70559	T	0.413	0.76048	T	10	0.013104111	0.00279	T	.	.	.	0.442	0.74518	.	.	0.774720261517	0.77264	0.8641290524401819	0.86376	0.567022438611	0.52971	0.75238609314	0.74798	T	0.162972	0.50785	T	-0.129283	0.31612	T	0.0519048	0.73710	D	0.0249159672370973	0.01261	T	0.935306	0.81731	D	0.64164495	0.74919	0.53257245	0.72991	0.64164495	0.74920	0.53257245	0.72991	-8.051	0.61417	D	.	.	0.266	0.50054	B	.;.;.	.;.;.	5.149429	0.86240	28.8	0.99543335025107649	0.70648	0.86249	0.45493	D	AEFDGBHCI	0.883812	0.81302	D	0.734200740686734	0.81876	7.625519	0.765997048586827	0.87348	9.190829	1.0	0.98316	0.722319	0.85440	0	0.653731	0.59785	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	6.04	0.98025	5.697000	0.67954	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1337:0.8663:0.0	15.993	0.80014	567	0.70732	PWWP domain|PWWP domain|BR140-related, PWWD domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3147.68	34	chr6	36225308	.	G	A	3147.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.718;DP=967;ExcessHet=0.3300;FS=6.133;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-3.360e-01;SOR=1.018	GT:AD:DP:GQ:PL	0/1:51,27:78:99:627,0,1138	18	0	3	0
chr6	38853282	38853282	G	A	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon40:c.G5017A:p.A1673T	.	.	.	.	.	.	.	.	.	.	.	563579	Primary_ciliary_dyskinesia|not_specified	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.974	D	0.000	D	1.000	D	3.035	M	-0.08	T	-0.068	T	0.464	T	0.745	3.946	20.2	5.69	2.683	5.629	19.814	0.521	0.0429374808172	0.0002	.	0.0001	0	0	0	0	4.506e-05	0	0.0007	9.06e-05	14	154602	rs375461103	4.998e-05	4.994e-05	4.087e-05	5.918e-05	0.0005	4.062e-05	3.737e-05	0.0003	0.0003	0	0	0	0	0	0.0003	2.609e-05	4.972e-05	0.0005	4.602e-05	4.598e-05	2.57e-05	6.73e-05	0.0004	2.11e-05	1.528e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	5.881e-05	0.0005	0.0004	0.006	0.61437	D	.	.	.	1.0	0.90584	D	0.974	0.73157	D	0.000014	0.62929	D	0.112224	1	0.81001	D	3.49	0.92661	M	-0.08	0.63911	T	-3.7	0.70553	D	0.684	0.71676	-0.0677	0.80830	T	0.464	0.79279	T	10	0.67665833	0.71031	D	0.042937	0.60723	D	0.521	0.79643	.	.	0.727257869051	0.72483	0.5893406877634692	0.58864	0.552691625033	0.52069	0.519898235798	0.41612	T	0.121234	0.79015	T	-0.0760722	0.40353	T	0.00466967	0.70637	D	0.91444319486618	0.57109	D	0.811819	0.46320	T	0.3430733	0.56523	0.37258485	0.62464	0.3430733	0.56523	0.37258485	0.62463	-8.514	0.64522	D	.	.	0.339	0.56198	B	.;.;.	.;.;.	3.379634	0.46740	22.3	0.99892972195382679	0.96666	0.92466	0.55777	D	AEFBHCI	0.570416	0.57480	D	0.625994132657439	0.74824	6.198671	0.500130322442807	0.68001	5.159996	0.999971706736717	0.50053	0.623552	0.39893	0	0.627178	0.54094	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.69	5.69	0.88346	5.521000	0.66800	11.783000	0.96163	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:1.0:0.0	19.814	0.96556	481	0.77356	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	718.98	33	chr6	38853282	.	G	A	718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=781;ExcessHet=0.0000;FS=1.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=0.665;SOR=0.631	GT:AD:DP:GQ:PL	0/1:60,37:97:99:733,0,1293	20	0	1	0
chr6	38870503	38870503	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon48:c.C6280T:p.H2094Y	.	.	.	.	.	.	.	.	.	.	.	560722	not_specified|Primary_ciliary_dyskinesia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.002	B	0.117	N	1.000	N	0.805	L	2.31	T	-0.953	T	0.012	T	0.145	0.863	8.496	-1.18	-0.084	1.745	12.595	0.061	0.00643512217736	0.0002	.	3.306e-05	0	0	0	0	4.509e-05	0	6.071e-05	2.59e-05	4	154602	rs370226425	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0003	1.238e-05	1.051e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.889e-05	1.656e-05	2.319e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.025	0.49613	D	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.116542	0.19189	N	0.582086	1	0.08975	N	1.525	0.38595	L	2.31	0.16794	T	-1.98	0.47344	N	0.309	0.34874	-0.9532	0.40416	T	0.012	0.04463	T	10	0.13084614	0.24901	T	0.006435	0.16927	T	0.061	0.17616	.	.	0.325263233342	0.32141	0.3707820870680264	0.36992	0.152986545687	0.17264	0.294794678688	0.09627	T	0.030515	0.21612	T	-0.390128	0.02685	T	-0.61664	0.11450	T	0.0315887889093682	0.02241	T	0.489451	0.15024	T	0.10348706	0.24460	0.16955948	0.38999	0.10348706	0.24460	0.16955948	0.38998	-5.267	0.39615	T	.	.	0.094	0.14431	B	.;.;.	.;.;.	1.100504	0.14849	11.38	0.93418225895000939	0.23185	0.70936	0.34799	D	AEFBI	0.213689	0.33924	N	-1.03135783134784	0.07958	0.3715007	-0.976524524527513	0.10313	0.5186597	3.25104257882384E-4	0.06540	0.625279	0.40028	0	0.588015	0.36545	0	0.547309	0.15389	0	0.59522	0.37078	0	.	.	6.06	-1.18	0.09122	1.928000	0.39734	3.865000	0.40157	-0.662000	0.04349	0.890000	0.31197	0.994000	0.32194	0.286000	0.24163	0.3851:0.5162:0.0:0.0987	12.595	0.55817	550	0.72197	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1054.98	34	chr6	38870503	.	C	T	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.490e-01;DP=825;ExcessHet=0.0000;FS=0.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-1.230e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1069,0,1456	20	0	1	0
chr6	38926054	38926054	G	A	splicing	DNAH8	NM_001206927:exon74:c.10963-1G>A;NM_001371:exon73:c.10312-1G>A	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	560845	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.338	22.8	5.86	2.776	8.249	18.380	.	.	0.0002	.	3.304e-05	0	0	0	0	4.504e-05	0	6.124e-05	2.59e-05	4	154602	rs376903331	1.369e-05	1.437e-05	1.226e-05	1.514e-05	1.62e-05	8.94e-06	7.27e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.62e-05	1.657e-05	1.164e-05	2.63e-05	2.627e-05	1.286e-05	4.038e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361263	0.87354	D	0.381783	0.91494	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.407365	0.90527	31	0.99535213927278687	0.70150	0.99587	0.97729	D	AEFBI	.	.	.	1.23872259916876	0.99826	27.81456	1.10626868635484	0.99825	27.79444	0.999998815652887	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.091713	0.02954	0	0.058706	0.01089	0	0.985854	0.93717	5.86	5.86	0.93936	4.710000	0.61563	11.703000	0.94531	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.380	0.90392	648	0.63242	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	611.98	33	chr6	38926054	.	G	A	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=749;ExcessHet=0.0000;FS=2.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=1.00;SOR=1.101	GT:AD:DP:GQ:PL	0/1:28,23:51:99:626,0,640	20	0	1	0
chr6	39314140	39314140	C	T	exonic	KCNK17	.	nonsynonymous SNV	KCNK17:NM_001135111:exon1:c.G181A:p.E61K	.	.	414	1103	5	0	0	5	0.00226142	.	.	699576	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.75	T	0.013	B	0.008	B	0.976	N	1.000	N	0.55	N	0.63	T	-0.983	T	0.026	T	0.214	0.685	7.661	1.51	0.393	0.685	7.971	0.027	.	0.0036	0.00219649	0.0078	0.0003	0.0040	0	0.0325	0.0122	0.0201	0.0008	0.0039197	606	154602	rs61748648	0.0050	0.0051	0.0051	0.0049	0.0051	0.0049	0.0049	0.0050	0.0050	0.0007	0.0031	0.0066	0	0.0196	0.0033	0.0051	0.0045	0.0003	0.0054	0.0054	0.0049	0.0058	0.0062	0.0051	0.0049	0.0057	0.0055	0.0011	0	0.0057	0.0066	0	0.0209	0.0170	0.0062	0.0052	0.0006	0.716	0.07211	T	0.899	0.05380	T	0.004	0.12183	B	0.007	0.12992	B	0.975793	0.07808	N	1.014040	0.99998	0.18612	N	1.39	0.34934	L	0.63	0.53088	T	-0.23	0.10656	N	0.074	0.04790	-0.9827	0.34375	T	0.026	0.11043	T	10	0.007459402	0.00169	T	.	.	.	0.027	0.05988	.	.	0.556183318313	0.55277	0.48916102533944705	0.48836	0.254042563834	0.27974	0.369607567787	0.20775	T	0.017243	0.14102	T	-0.525057	0.00411	T	-0.523956	0.19894	T	0.0105835244960174	0.00148	T	0.654235	0.26451	T	0.037370075	0.04777	0.0457755	0.06235	0.042514	0.06460	0.056164466	0.09985	-5.512	0.41980	T	0.14831022234658806	0.17257	0.116	0.26200	B	.;.	.;.	2.297866	0.29402	18.11	0.96194237010166839	0.29000	0.16684	0.19502	N	AEFDBHI	0.118407	0.23154	N	-0.8156591087898	0.12910	0.6324215	-0.733883307115456	0.16119	0.8511944	0.99110996248119	0.32374	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.49	1.51	0.22094	0.658000	0.24662	0.712000	0.20944	0.596000	0.33519	0.265000	0.24998	0.183000	0.23436	0.991000	0.66497	0.0:0.6024:0.3065:0.091	7.971	0.29291	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1215.98	36	chr6	39314140	.	C	T	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.880e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-7.770e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1230,0,1563	20	0	1	0
chr6	52479786	52479786	A	G	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon9:c.A1639G:p.S547G	.	.	0	1516	6	0	0	6	0.00197498	0.8829	0.608	832062	not_provided|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|not_specified	MedGen:C3661900|MONDO:MONDO:0850093,MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.0	B	0.001	B	0.022	N	1.000	N	0.145	N	-0.08	T	-1.067	T	0.056	T	0.052	0.953	8.885	3.12	0.373	1.625	5.109	0.050	0.00744125407936	.	.	2.486e-05	0	0	0	0	3.013e-05	0	6.087e-05	2.59e-05	4	154602	rs759767484	3.489e-05	3.489e-05	2.995e-05	3.988e-05	0.0003	2.697e-05	2.438e-05	6.094e-05	2.522e-05	0	6.709e-05	0	0	0	0.0003	3.327e-05	6.624e-05	5.797e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.542e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.542e-05	0	0	0	0	4.41e-05	0	0	0.425	0.09806	T	0.424	0.13953	T	0.0	0.02946	B	0.0	0.01387	B	0.021724	0.01558	N	2.072630	1	0.08975	N	0.69	0.16971	N	-0.08	0.67712	T	-0.5	0.15782	N	0.114	0.12484	-1.0667	0.10154	T	0.056	0.23677	T	10	0.047158033	0.03998	T	0.007441	0.19739	T	0.050	0.13987	.	.	0.670669281473	0.66789	0.15334929598202804	0.15256	0.0778385254276	0.08765	0.281792253256	0.07744	T	0.07905	0.36036	T	-0.371774	0.03506	T	-0.574832	0.15009	T	0.0368777886033058	0.03135	T	0.553945	0.19167	T	0.061656132	0.12792	0.05126548	0.08214	0.061656132	0.12792	0.05126548	0.08214	-4.281	0.29408	T	.	.	0.061	0.01271	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.068155	0.26296	17.07	0.73651312735804308	0.10405	0.13295	0.17775	N	AEFBI	0.111863	0.22132	N	-0.917964804609424	0.10422	0.4979471	-0.861467967477348	0.13012	0.6726477	0.571223267379184	0.21494	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.56	3.12	0.34986	2.516000	0.45181	2.108000	0.30643	0.756000	0.94297	0.249000	0.24839	0.948000	0.28948	0.055000	0.15596	0.7557:0.0:0.086:0.1583	5.109	0.14134	882	0.29131	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1075.98	33	chr6	52479786	.	A	G	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.380e-01;DP=798;ExcessHet=0.0000;FS=4.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-1.111e+00;SOR=1.090	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1090,0,1255	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:64,19,14:109:99:261,0,1466,200,1029,1719	6	0	12	1
chr6	63778108	63778108	T	C	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon40:c.A7796G:p.H2599R	Retinitis pigmentosa 25	.	0	1508	13	1	0	15	0.00494886	.	.	438326	Retinitis_pigmentosa_25|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.35	T	0.087	B	0.029	B	0.072	N	1.000	D	0.11	N	-1.49	T	-1.085	T	0.036	T	0.169	1.058	9.321	1.47	0.020	1.000	7.154	0.007	.	0.0079	0.00459265	0.0068	0.0018	0.0024	0	0.0037	0.0082	0	0.0082	0.0019857	307	154602	rs74636274	0.0082	0.0079	0.0084	0.0081	0.0095	0.0081	0.0081	0.0093	0.0093	0.0014	0.0038	0.0013	5.597e-05	0.0026	0.0039	0.0095	0.0055	0.0078	0.0058	0.0058	0.0062	0.0053	0.0093	0.0054	0.0053	0.0087	0.0085	0.0015	0	0.0075	0.0009	0	0.0019	0.0034	0.0093	0.0052	0.0060	0.005	0.63226	D	0.037	0.51737	D	0.087	0.24971	B	0.029	0.21540	B	0.072010	0.21436	N	0.285145	0.999343	0.21331	N	0.92	0.23413	L	-1.52	0.81478	D	-2.26	0.50502	N	0.153	0.15749	-1.0855	0.06316	T	0.036	0.15465	T	10	0.0058834553	0.00132	T	.	.	.	0.119	0.33137	.	.	0.345405024496	0.34151	0.41332976369758667	0.41248	0.0097119950357	0.00885	0.4694917202	0.34610	T	0.033852	0.23084	T	-0.381968	0.03028	T	-0.313486	0.43283	T	0.0200093719752599	0.00702	T	0.573243	0.20505	T	0.11788116	0.27783	0.13753471	0.32870	0.109312065	0.25844	0.1497496	0.35345	-7.51	0.60797	D	0.14717333319769071	0.17034	0.088	0.11893	B	.;.	.;.	1.688403	0.21515	15.23	0.93350850016474618	0.23085	0.67545	0.33472	D	AEFBI	0.101609	0.20403	N	-0.459802705925618	0.23408	1.256894	-0.48992454941763	0.22429	1.218247	0.00732365359616575	0.11439	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.02	1.47	0.21832	1.047000	0.29976	-0.581000	0.08376	0.665000	0.62972	1.000000	0.71638	0.437000	0.24884	0.038000	0.14061	0.0:0.1867:0.0:0.8133	7.154	0.24805	784	0.47045	.;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1651.98	34	chr6	63778108	.	T	C	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.188e+00;DP=825;ExcessHet=0.0000;FS=0.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.594;SOR=0.596	GT:AD:DP:GQ:PL	0/1:66,79:145:99:1666,0,1449	20	0	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/2:0,49,26,0:75:99:2913,974,834,1951,0,2547,2972,1023,2321,3288	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/2:0,49,26,0:75:99:2913,974,834,1951,0,2547,2972,1023,2321,3288	3	8	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,17:53:21:.:.:21,0,436	6	0	13	2
chr6	106539406	106539406	G	A	exonic	CRYBG1	.	stopgain	CRYBG1:NM_001624:exon7:c.G3498A:p.W1166X	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	12.927	46	5.81	2.738	8.825	20.080	.	.	.	0.000199681	3.299e-05	0	0.0003	0	0	1.5e-05	0	0	4.53e-05	7	154602	rs559044700	4.79e-05	4.788e-05	4.221e-05	5.364e-05	0.0002	3.861e-05	3.541e-05	4.365e-05	3.826e-05	2.99e-05	0.0001	0	0	0	0.0002	5.307e-05	3.313e-05	2.32e-05	0.0001	0.0001	0.0002	9.403e-05	0.0009	8.663e-05	7.255e-05	0.0005	0.0004	2.408e-05	0	0.0009	0	0	0	0	8.82e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.105878	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.934	0.93959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447187	0.92355	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	11.095797	0.99901	51	0.99620962391459345	0.75413	0.98395	0.82339	D	AEFBHCI	0.295657	0.40571	N	1.00282049696958	0.95830	14.01051	0.892058723161037	0.95217	13.41667	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	8.988000	0.93066	11.709000	0.94623	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	20.080	0.97771	786	0.46839	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1945.08	35	chr6	106539406	.	G	A	1945.08	.	AC=2;AF=0.048;AN=42;DP=1231;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.60;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,68:68:99:1973,204,0	20	1	0	0
chr6	108664377	108664377	C	T	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.C1544T:p.P515L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	1.0	D	0.997	D	0.000	D	1.000	D	2.16	M	-4.11	D	0.854	D	0.909	D	0.952	2.190	13.28	5.59	2.648	5.666	19.612	0.554	0.0807888065962	7.7e-05	.	0.0001	0	8.715e-05	0	0	9.068e-05	0	0.0004	3.84e-05	1	26028	rs368031979	6.226e-05	6.225e-05	5.446e-05	7.014e-05	0.0002	5.162e-05	4.781e-05	9.792e-05	7.839e-05	5.975e-05	4.473e-05	0	0	0	0	6.206e-05	6.625e-05	0.0002	3.948e-05	3.938e-05	1.287e-05	6.732e-05	8.828e-05	1.717e-05	1.131e-05	3.765e-05	2.577e-05	0	0	0	0	0	0	0	8.828e-05	0	0	0.205	0.22053	T	0.168	0.34716	T	1.0	0.90584	D	0.997	0.86255	D	0.000132	0.49741	D	0.210033	1	0.81001	D	2.74	0.80084	M	-4.11	0.96687	D	-2.22	0.49846	N	0.925	0.92901	0.854	0.95077	D	0.909	0.96969	D	10	0.7627033	0.76468	D	0.080789	0.73539	D	0.554	0.81601	.	.	0.975090296176	0.97481	0.6463950062042642	0.64574	.	.	0.651193261147	0.60155	T	0.752435	0.93227	D	0.299124	0.82898	D	0.492219	0.94458	D	0.19757542014122	0.20281	T	0.931507	0.74506	D	0.057850037	0.11566	0.108533435	0.26145	0.057850037	0.11566	0.108533435	0.26145	-4.204	0.26809	T	.	.	0.514	0.72840	A	.;.;.	.;.;.	4.248790	0.64477	24.7	0.96067676335891439	0.28614	0.96946	0.71809	D	AEFDGBI	0.757825	0.69666	D	0.632370648744041	0.75231	6.269841	0.628483754957236	0.77016	6.599077	0.999999999999943	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	19.612	0.95605	618	0.66225	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1429.08	44	chr6	108664377	.	C	T	1429.08	.	AC=2;AF=0.048;AN=42;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=42.42;QD=26.96;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1457,159,0	20	1	0	0
chr6	110456862	110456862	C	T	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.G209A:p.S70N,	.	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.454	P	0.071	B	0.002	N	1.000	N	1.545	L	1.17	T	-1.071	T	0.062	T	0.036	1.983	12.59	-5.05	-0.921	-0.081	5.523	0.044	0.00876804708803	0.0005	0.000798722	0.0009	9.617e-05	0.0004	0	0	0.0006	0.0044	0.0037	0.0007956	123	154602	rs145653089	0.0006	0.0006	0.0005	0.0007	0.0069	0.0006	0.0005	0.0052	0.0046	8.961e-05	0.0001	0	0	0	0.0069	0.0004	0.0008	0.0038	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0003	0.0022	0.0018	2.406e-05	0	0.0002	0	0	0	0.0034	0.0007	0.0009	0.0035	0.072	0.39575	T	0.077	0.42436	T	0.454	0.36182	P	0.071	0.27960	B	0.001541	0.00798	N	5.930950	1	0.08975	N	0.605	0.15622	N	1.17	0.65192	T	-0.17	0.10833	N	0.078	0.05287	-1.0711	0.09173	T	0.062	0.25923	T	10	0.006997794	0.00159	T	0.008768	0.23147	T	0.044	0.11924	.	.	0.115124310173	0.11017	0.4664323185467218	0.46562	0.015149267968	0.01440	0.209350436926	0.00784	T	0.018852	0.15125	T	-0.607257	0.00132	T	-0.647481	0.09132	T	0.0200073487743766	0.00701	T	0.327067	0.07184	T	0.047845952	0.08244	0.06910523	0.14518	0.047845952	0.08244	0.06910523	0.14517	-6.36	0.49196	T	.	.	0.083	0.09191	B	.;.;.	.;.;.	-0.136266	0.03432	0.628	0.90622664412279952	0.19876	0.09044	0.14877	N	AEFDGBIJ	0.101387	0.20365	N	-0.968869463499155	0.09273	0.4382266	-1.1222374894137	0.07277	0.3533342	0.979797763919298	0.30066	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	-5.05	0.02733	-0.041000	0.12036	-1.420000	0.05482	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2061:0.3793:0.0:0.4146	5.523	0.16230	493	0.76500	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3511.08	33	chr6	110456862	.	C	T	3511.08	.	AC=2;AF=0.048;AN=42;DP=1765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.75;SOR=0.762	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3539,354,0	20	1	0	0
chr6	111580262	111580262	G	T	exonic	TRAF3IP2	.	nonsynonymous SNV	TRAF3IP2:NM_001164281:exon3:c.C957A:p.S319R	.	.	424	1080	16	2	0	20	0.00917431	.	.	521681	Candidiasis,_familial,_8|TRAF3IP2-related_disorder	MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.937	P	0.529	P	0.000	D	1.000	D	1.905	M	1.2	T	-1.112	T	0.058	T	0.581	3.858	19.60	1.77	0.435	0.057	9.803	0.112	0.0105387821715	0.0011	0.000599042	0.0018	0	0.0006	0	0.0002	0.0022	0.0033	0.0038	0.0016171	250	154602	rs146226365	0.0013	0.0013	0.0012	0.0014	0.0087	0.0013	0.0012	0.0068	0.0061	5.982e-05	0.0004	0.0169	0	0.0002	0.0087	0.0008	0.0023	0.0041	0.0012	0.0012	0.0012	0.0012	0.0052	0.0010	0.0010	0.0036	0.0031	9.62e-05	0	0.0005	0.0161	0	0	0	0.0011	0.0043	0.0052	0.01	0.56456	D	0.044	0.50226	D	0.937	0.52445	P	0.529	0.48508	P	0.000322	0.45700	D	0.156174	1	0.81001	D	2.395	0.69210	M	1.2	0.37746	T	-1.28	0.32185	N	0.266	0.30687	-1.1119	0.02912	T	0.058	0.24317	T	10	0.007829368	0.00178	T	0.010539	0.27195	T	0.112	0.31546	0.369	0.37850	0.562580035486	0.55921	0.383433040672227	0.38258	0.248281453922	0.27391	0.36838644743	0.20599	T	0.144915	0.48178	T	-0.374221	0.03386	T	-0.312109	0.43432	T	0.0511625810549959	0.05703	T	0.618838	0.23746	T	0.06632413	0.14260	0.0971476	0.23110	0.09406443	0.22106	0.09396534	0.22219	-3.425	0.16487	T	0.2385391721129201	0.32307	0.247	0.53747	B	.;.;.;.	.;.;.;.	2.820424	0.37150	20.4	0.99794009709139653	0.87928	0.76255	0.37385	D	AEFDBI	0.194552	0.32162	N	0.138979454985184	0.48291	3.043194	0.135237814780427	0.46365	2.883631	0.999994259232576	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.99	1.77	0.23848	0.252000	0.18046	0.085000	0.14440	0.676000	0.76740	0.994000	0.38300	0.071000	0.22219	0.991000	0.66497	0.3261:0.0:0.6739:0.0	9.803	0.39945	386	0.83455	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3016.08	85	chr6	111580262	.	G	T	3016.08	.	AC=2;AF=0.048;AN=42;DP=1636;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=26.93;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3044,335,0	20	1	0	0
chr6	132713848	132713848	G	A	exonic	VNN1	.	nonsynonymous SNV	VNN1:NM_004666:exon1:c.C188T:p.A63V,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.995	D	0.858	P	0.000	D	1.000	D	2.885	M	-2.71	D	0.586	D	0.807	D	0.627	3.526	18.00	5.38	2.536	4.660	17.910	0.568	0.0627516943582	0.0027	0.000399361	0.0015	0.0009	0.0013	0	0	0.0024	0.0011	6.061e-05	0.0015071	233	154602	rs45500693	0.0030	0.0030	0.0031	0.0029	0.0036	0.0029	0.0029	0.0035	0.0035	0.0007	0.0015	0.0001	2.519e-05	0.0001	0.0018	0.0036	0.0044	4.64e-05	0.0021	0.0021	0.0026	0.0015	0.0039	0.0019	0.0018	0.0035	0.0033	0.0004	0	0.0018	0.0003	0	0	0.0034	0.0039	0.0024	0	0.18	0.21968	T	0.848	0.03527	T	0.995	0.67487	D	0.858	0.61127	P	0.000001	0.84330	D	0.000000	0.999696	0.48338	D	3.23	0.89537	M	-2.71	0.90566	D	-2.6	0.55983	D	0.73	0.73105	0.586	0.91710	D	0.807	0.93468	D	10	0.127433	0.24234	T	0.062752	0.68752	D	0.568	0.82403	.	.	0.816748464161	0.81501	0.7735668601487828	0.77306	0.262288518951	0.28792	0.412644565105	0.26822	T	0.137088	0.46982	T	-0.110791	0.34638	T	0.0650298	0.74578	D	0.0760134607553482	0.09470	T	0.857914	0.54791	D	0.7128329	0.78763	0.6987635	0.82256	0.7128329	0.78765	0.6987635	0.82257	-7.949	0.60721	D	.	.	0.121	0.25000	B	.	.	4.943261	0.81600	27.6	0.99818655962279645	0.90150	0.83683	0.42784	D	ALL	0.723012	0.67276	D	0.525380649168869	0.68596	5.238935	0.43835317604288	0.63972	4.64214	0.999999999911807	0.74766	0.428477	0.06694	0	0.491513	0.07743	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.38	5.38	0.77279	6.580000	0.73930	5.713000	0.49433	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	0.0:0.0:1.0:0.0	17.910	0.88847	904	0.23766	Carbon-nitrogen hydrolase|Carbon-nitrogen hydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	34	chr6	132713848	.	G	A	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=810;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-5.480e-01;SOR=0.790	GT:AD:DP:GQ:PL	0/1:59,48:107:99:1034,0,1215	20	0	1	0
chr6	133889460	133889460	C	G	exonic	TCF21	.	nonsynonymous SNV	TCF21:NM_003206:exon1:c.C63G:p.D21E	.	.	413	1103	6	0	0	6	0.00271248	.	.	178172	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.145	B	0.032	B	0.001	D	0.996	D	1.1	L	-3.96	D	-0.414	T	0.497	T	0.111	0.113	4.609	0.582	-0.226	-0.423	4.084	0.228	.	0.0058	0.00319489	0.0057	0.0016	0.0035	0.0003	0.0029	0.0084	0.0033	0.0030	0.0060413	934	154602	rs61729591	0.0090	0.0090	0.0094	0.0086	0.0107	0.0088	0.0088	0.0105	0.0105	0.0012	0.0027	0.0029	0.0003	0.0052	0.0021	0.0107	0.0068	0.0029	0.0059	0.0059	0.0062	0.0056	0.0093	0.0056	0.0054	0.0087	0.0085	0.0025	0	0.0051	0.0040	0.0014	0.0032	0	0.0093	0.0057	0.0027	0.385	0.11015	T	0.603	0.07868	T	0.145	0.27759	B	0.032	0.22131	B	0.000604	0.42945	D	0.158475	0.996346	0.43151	D	0.55	0.14455	N	-3.96	0.96208	D	-0.44	0.14588	N	0.044	0.02088	-0.4144	0.71570	T	0.497	0.80941	T	10	0.0035883188	0.00065	T	.	.	.	0.228	0.52768	0.675	0.81299	0.57609285686	0.57278	0.12210557299167434	0.12137	0.655915216016	0.58620	0.416677057743	0.27380	T	0.155386	0.49710	T	-0.347389	0.04893	T	-0.259453	0.48880	T	0.00153725979355707	0.00015	T	0.581242	0.21054	T	0.041062005	0.05978	0.05931967	0.11114	0.041062005	0.05977	0.05931967	0.11114	-3.565	0.17353	T	.	.	0.082	0.08802	B	.;.	.;.	0.804201	0.11749	8.325	0.903352571463101	0.19600	0.38063	0.25903	N	AEFDBCIJ	0.519618	0.54482	D	-1.0153065045093	0.08286	0.3879572	-0.941706793286172	0.11116	0.5643476	0.999943783620815	0.47345	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.43	0.582	0.16594	-0.402000	0.07284	-1.891000	0.04543	-0.248000	0.07205	0.191000	0.24200	0.000000	0.08366	0.976000	0.56436	0.1606:0.3803:0.0:0.4591	4.084	0.09414	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	0.02381	734.98	35	chr6	133889460	.	C	G	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.378e+00;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.66;ReadPosRankSum=0.959;SOR=0.612	GT:AD:DP:GQ:PL	0/1:55,41:96:99:749,0,1194	20	0	1	0
chr6	137161710	137161710	A	C	exonic	IL22RA2	.	nonsynonymous SNV	IL22RA2:NM_052962:exon2:c.T40G:p.F14V	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.003	B	0.005	B	0.310	N	1.000	N	1.355	L	-0.75	T	-1.049	T	0.102	T	0.13	1.862	12.18	-6.36	-1.302	-0.844	7.658	0.121	.	0.0002	0.00259585	0.0027	0.0003	0.0131	0.0181	0	0.0001	0.0011	0.0004	0.0023027	356	154602	rs147016715	0.0008	0.0008	0.0009	0.0007	0.0140	0.0008	0.0008	0.0130	0.0126	0.0001	0.0119	0.0005	0.0140	0	0.0002	1.799e-05	0.0009	0.0004	0.0011	0.0011	0.0010	0.0013	0.0135	0.0010	0.0010	0.0110	0.0100	0.0001	0	0.0056	0.0003	0.0135	0	0	7.351e-05	0.0024	0.0006	0.407	0.12714	T	0.325	0.18903	T	0.001	0.11197	B	0.003	0.11217	B	0.310221	0.04010	N	1.416160	1	0.08975	N	1.3	0.32576	L	-0.75	0.73311	T	0.19	0.04947	N	0.088	0.06587	-1.0494	0.14565	T	0.102	0.37819	T	10	0.0033814013	0.00059	T	.	.	.	0.121	0.33580	.	.	0.107399877778	0.10242	0.14060482328278712	0.13983	0.0110260002501	0.01025	0.270983994007	0.06270	T	0.014835	0.12555	T	-0.540822	0.00331	T	-0.536004	0.18690	T	0.00118877102816471	0.00012	T	0.475652	0.14239	T	0.041880738	0.06248	0.051515583	0.08307	0.041880738	0.06248	0.051515583	0.08307	-3.062	0.10865	T	.	.	0.054	0.03698	B	.;.;.	.;.;.	-0.191125	0.03136	0.504	0.85248567834554168	0.15776	0.02684	0.07317	N	AEFDGBI	0.095169	0.19232	N	-1.18159869328023	0.05278	0.2402457	-1.27296108999951	0.04799	0.2272579	0.999999925516192	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-6.36	0.01796	-0.846000	0.04444	-0.980000	0.06715	-0.048000	0.17318	0.000000	0.06391	0.000000	0.08366	0.680000	0.33542	0.3203:0.1578:0.5219:0.0	7.658	0.27555	704	0.57414	.;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	0	0	0.02381	971.98	35	chr6	137161710	.	A	C	971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.106;DP=837;ExcessHet=0.0000;FS=0.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=0.447;SOR=0.784	GT:AD:DP:GQ:PL	0/1:55,47:102:99:986,0,1197	20	0	1	0
chr6	150831437	150831437	G	A	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon13:c.G2209A:p.V737M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.855	P	0.2	B	0.257	N	1.000	N	0.69	N	0.27	T	-1.059	T	0.037	T	0.086	0.681	7.644	0.932	0.099	0.114	2.244	0.061	0.0229175938779	7.7e-05	0.000399361	0.0002	0.0002	0.0002	0	0	0.0003	0	0	0.0001617	25	154602	rs202245274	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	0.0001	0.0029	0.0024	8.961e-05	0.0003	0.0008	5.038e-05	0	0.0042	8.183e-05	0.0003	5.797e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.714e-05	0.0001	7.895e-05	4.812e-05	0	0.0002	0.0012	0.0002	0	0.0034	0.0002	0	0	0.004	0.65419	D	0.116	0.36497	T	0.855	0.47121	P	0.2	0.36839	B	0.257070	0.15390	N	0.693156	1	0.08975	N	0.69	0.16971	N	0.27	0.59176	T	-0.57	0.17210	N	0.13	0.12484	-1.0588	0.12058	T	0.037	0.15986	T	10	0.01254946	0.00269	T	0.022918	0.45849	T	0.061	0.17616	.	.	0.501940320817	0.49831	0.15550574358174085	0.15471	.	.	0.359013527632	0.19242	T	0.004357	0.03768	T	-0.417152	0.01784	T	-0.552273	0.17107	T	0.0118844941600412	0.00185	T	0.89971	0.64861	D	0.06195717	0.12888	0.056111157	0.09968	0.06195717	0.12887	0.056111157	0.09967	-4.466	0.30441	T	.	.	0.112	0.21803	B	.;.	.;.	1.483973	0.19096	14.09	0.96781954108990298	0.31079	0.12225	0.17138	N	AEFBI	0.070418	0.13977	N	-0.735350259368441	0.15033	0.7541249	-0.808431585644278	0.14292	0.7459763	0.752254360622494	0.23379	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.636168	0.56350	0	.	.	5.86	0.932	0.18591	0.253000	0.18066	0.474000	0.18740	-0.154000	0.11915	0.000000	0.06391	0.000000	0.08366	0.718000	0.34707	0.244:0.2095:0.4389:0.1076	2.244	0.03780	960	0.08626	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	834.98	100	chr6	150831437	.	G	A	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=1891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=-2.615e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:56,37:93:99:849,0,1319	20	0	1	0
chr6	158074732	158074732	T	G	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_001178088:exon15:c.T1575G:p.S525R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.993	D	0.928	D	0.000	D	1.000	D	1.11	L	-3.62	D	0.296	D	0.735	D	0.592	3.012	16.05	0.159	2.689	0.439	5.061	0.602	0.0255360553826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.84e-07	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.372	0.48336	T	0.993	0.65571	D	0.928	0.66279	D	0.000002	0.62929	D	0.000000	0.897917	0.36102	D	0.475	0.13142	N	-3.62	0.95077	D	-1.54	0.37375	N	0.407	0.51405	0.296	0.87501	D	0.735	0.90944	D	10	0.36703265	0.53183	T	0.025536	0.48504	D	0.602	0.84291	0.404	0.43573	0.890976877463	0.88990	0.6691581130410788	0.66853	0.241334213525	0.26659	0.570595741272	0.48762	T	0.523591	0.85747	D	0.13332	0.67683	D	-0.0462718	0.67276	D	0.638360440731049	0.37968	D	0.862314	0.57956	D	0.10877813	0.25719	0.11578164	0.27951	0.10877813	0.25719	0.11578164	0.27950	-9.854	0.73726	D	.	.	0.564	0.67394	P	.;.;.;.	.;.;.;.	3.307288	0.45428	22.1	0.99473336094190634	0.66472	0.96029	0.67212	D	AEFBI	0.315429	0.42000	N	0.340894364438348	0.58260	3.997292	0.32233210226104	0.56856	3.849515	0.999907783029952	0.45458	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.7	0.159	0.14256	0.308000	0.19071	0.100000	0.14636	-1.508000	0.01019	0.998000	0.41325	0.984000	0.30665	0.890000	0.42831	0.1255:0.3148:0.0:0.5597	5.061	0.13892	958	0.09170	Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;.;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Inositol polyphosphate-related phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	686.98	35	chr6	158074732	.	T	G	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.159e+00;DP=772;ExcessHet=0.0000;FS=1.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=2.26;SOR=0.458	GT:AD:DP:GQ:PL	0/1:47,35:82:99:701,0,1172	20	0	1	0
chr6	158503306	158503306	C	T	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C3643T:p.P1215S,	.	.	431	1075	16	0	0	16	0.00738689	.	.	2828089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.002	B	0.003	B	0.000	D	1.000	D	1.12	L	2.02	T	-1.066	T	0.019	T	0.232	0.240	5.298	3.28	0.711	1.733	15.500	0.044	0.00776409537166	0.0032	0.00159744	0.0025	9.636e-05	0.0016	0.0001	0.0017	0.0030	0.0055	0.0038	0.0023092	357	154602	rs34395018	0.0026	0.0026	0.0026	0.0027	0.0049	0.0026	0.0025	0.0034	0.0033	0.0002	0.0012	0.0140	7.557e-05	0.0015	0.0049	0.0025	0.0030	0.0038	0.0020	0.0020	0.0021	0.0018	0.0058	0.0018	0.0017	0.0041	0.0036	0.0003	0.0022	0.0014	0.0130	0	0.0008	0	0.0026	0.0019	0.0058	0.185	0.21550	T	0.837	0.03642	T	0.002	0.09854	B	0.003	0.08700	B	0.000108	0.50451	D	0.177152	1	0.81001	D	0.95	0.23787	L	2.02	0.21119	T	-0.68	0.19509	N	0.101	0.08366	-1.0660	0.10316	T	0.019	0.07939	T	10	0.0028075874	0.00044	T	0.007764	0.20589	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.4074727361748247	0.40663	0.23410116099	0.25944	0.423403203487	0.28305	T	0.012719	0.11127	T	-0.528079	0.00394	T	-0.531333	0.19154	T	0.00480502856579419	0.00052	T	0.725627	0.33984	T	0.05243216	0.09778	0.08808948	0.20519	0.05243216	0.09777	0.08808948	0.20518	-4.148	0.25995	T	.	.	0.076	0.05979	B	.	.	1.685817	0.21482	15.22	0.86066393770840699	0.16291	0.90874	0.52424	D	AEFDBI	0.191881	0.31906	N	-0.52677038843786	0.21218	1.124423	-0.43622951719758	0.23941	1.308365	0.97568999832254	0.29655	0.706298	0.61202	0	0.577304	0.33150	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.08	3.28	0.36691	1.774000	0.38203	1.394000	0.26140	0.599000	0.40250	0.994000	0.38300	0.974000	0.29927	0.739000	0.35404	0.0:0.738:0.262:0.0	15.500	0.75421	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	675.98	69	chr6	158503306	.	C	T	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=1226;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=0.119;SOR=0.690	GT:AD:DP:GQ:PL	0/1:45,30:75:99:690,0,1043	20	0	1	0
chr6	159246969	159246969	G	C	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon15:c.G4690C:p.D1564H,	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.979	D	0.003	N	1.000	D	1.935	M	3.72	T	-0.653	T	0.275	T	0.54	3.265	16.95	5.54	2.588	5.711	17.237	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0018	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0	0.0002	5.061e-05	1.875e-05	0	0.0003	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.979	0.74454	D	0.002848	0.35836	N	0.234303	0.999957	0.54805	D	2.43	0.70455	M	2.92	0.09915	T	-3.39	0.66896	D	0.55	0.57604	-0.6531	0.62579	T	0.275	0.64629	T	9	0.5588635	0.64674	D	0.033427	0.54974	D	0.155	0.40530	0.211	0.12923	0.716368476681	0.71387	0.5440392449143501	0.54329	0.742978454595	0.63363	0.448153674603	0.31691	T	0.069527	0.33731	T	-0.0790741	0.39866	T	-0.351361	0.39050	T	0.992298901081085	0.82739	D	0.823318	0.48387	T	0.50443697	0.67354	0.484389	0.70152	0.50443697	0.67355	0.484389	0.70153	-9.52	0.70983	D	.	.	0.559	0.67191	A	.	.	6.143375	0.94659	34	0.99444621568533897	0.64971	0.96803	0.71023	D	AEFBI	0.833431	0.75164	D	0.664050852397009	0.77282	6.644672	0.620074757088017	0.76401	6.483862	0.97955389799973	0.30040	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.590000	0.31140	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	429.76	74	chr6	159246969	.	G	C	429.76	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-2.628e+00;DP=1339;ExcessHet=0.6776;FS=353.850;InbreedingCoeff=-0.1265;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.12;ReadPosRankSum=1.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,12:51:74:.:.:74,0,1132	16	0	4	1
chr6	159246970	159246970	G	C	splicing	FNDC1	NM_032532:exon15:c.4690+1G>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.523	14.40	5.54	2.588	5.711	17.237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0099	0.0038	0.0033	0.0043	0.0035	0.0035	0.0042	0.0041	0.0035	0.0001	0.0012	0.0009	0.0008	0.0018	0.0043	0.0031	0.0013	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244542	0.78088	D	0.113491	0.77803	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.933500	0.81364	27.5	0.99449484633040008	0.65223	0.96789	0.70947	D	AEFBI	.	.	.	1.01751420525002	0.96260	14.48223	0.835805092306312	0.92159	11.26917	0.97955389799973	0.30040	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.057018	0.00518	0	0.973979	0.76545	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.523000	0.29544	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	384.68	36	chr6	159246970	.	G	C	384.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.641e+00;DP=989;ExcessHet=0.3300;FS=258.507;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.45;ReadPosRankSum=0.816;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,9:51:43:.:.:43,0,1140	18	0	3	0
chr6	159739015	159739015	A	G	exonic	WTAP	.	nonsynonymous SNV	WTAP:NM_001270531:exon3:c.A56G:p.K19R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.01	B	0.009	B	0.000	D	1.000	D	1.355	L	0.85	T	-1.072	T	0.058	T	0.426	3.613	18.39	5.28	2.111	8.227	14.067	0.133	0.0109381703518	7.7e-05	0.000199681	8.265e-05	0	0	0.0002	0	7.516e-05	0	0.0002	0.00011	17	154602	rs148080007	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0011	0.0010	0	4.492e-05	0	0.0014	0	0.0002	0.0001	0.0001	0.0002	9.851e-05	9.843e-05	0.0001	8.058e-05	0.0012	6.004e-05	4.877e-05	0.0005	0.0003	4.813e-05	0	0	0	0.0012	0	0	0.0001	0	0	0.122	0.27663	T	0.447	0.21011	T	0.01	0.15535	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	0.74	0.50459	T	-0.93	0.24898	N	0.423	0.46274	-1.0723	0.08915	T	0.058	0.24428	T	10	0.09220198	0.16217	T	0.010938	0.28041	T	0.133	0.36157	.	.	0.313793572803	0.30980	0.3136324455266764	0.31276	1.05760609486	0.76358	0.716450512409	0.69529	T	0.171385	0.51949	T	-0.199289	0.20907	T	-0.298339	0.44899	T	0.131871254936676	0.15554	T	0.728327	0.34315	T	0.17593442	0.38478	0.15975225	0.37241	0.17593442	0.38478	0.15975225	0.37241	-4.419	0.32222	T	.	.	0.090	0.14979	B	.;.;.;.;.	.;.;.;.;.	3.419056	0.47462	22.5	0.99740745812546283	0.83482	0.99646	0.98304	D	AEFBI	0.917892	0.88617	D	0.0218037200109731	0.42846	2.589425	0.214016938413239	0.50625	3.252565	0.999999999849163	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.28	5.28	0.74118	7.946000	0.87231	11.026000	0.85008	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.067	0.64363	808	0.43318	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	972.98	33	chr6	159739015	.	A	G	972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.053e+00;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=3.25;SOR=0.733	GT:AD:DP:GQ:PL	0/1:47,48:95:99:987,0,1011	20	0	1	0
chr6	160027227	160027227	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon6:c.C689T:p.P230L,	Hepatocellular carcinoma, somatic	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.001	B	0.356	N	1.000	N	0.64	N	2.47	T	-0.957	T	0.007	T	0.149	1.262	10.12	-2.89	-0.479	-1.246	0.904	0.009	0.00270619618243	7.7e-05	.	2.497e-05	0	0	0	0	4.545e-05	0	0	1.94e-05	3	154602	rs367819391	3.899e-05	3.899e-05	2.722e-05	5.088e-05	0.0002	3.047e-05	2.783e-05	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	3.777e-05	0.0001	8.115e-05	6.568e-06	6.566e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.294	0.14793	T	0.288	0.21144	T	0.001	0.07471	B	0.001	0.04355	B	0.355562	0.04272	N	1.341150	0.999994	0.08975	N	.	.	.	2.47	0.14783	T	-2.66	0.56945	D	0.098	0.07949	-0.9572	0.39699	T	0.007	0.02558	T	10	0.07664204	0.11999	T	0.002706	0.05550	T	0.009	0.00846	.	.	0.200294437569	0.19612	0.29073885813832195	0.28986	0.0941277543069	0.10624	0.234187468886	0.02292	T	0.139657	0.47380	T	-0.463566	0.00934	T	-0.711975	0.05194	T	0.0256856736550977	0.01363	T	0.432757	0.11777	T	0.13939586	0.32201	0.120060965	0.28977	0.13939586	0.32201	0.120060965	0.28976	-5.329	0.40229	T	.	.	0.065	0.01960	B	.;.	.;.	0.222558	0.06049	2.490	0.61167925717414606	0.06642	0.06199	0.12184	N	AEFDBI	0.045898	0.07560	N	-1.29800139599903	0.03700	0.1657461	-1.3344245118023	0.03992	0.1874142	0.9999695066381	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.22	-2.89	0.05326	-1.126000	0.03365	-1.397000	0.05536	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.3086:0.2984:0.2028:0.1902	0.904	0.01200	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1117.98	37	chr6	160027227	.	C	T	1117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.119e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=2.05;SOR=0.765	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1132,0,1135	20	0	1	0
chr6	161139586	161139586	G	A	exonic	AGPAT4	.	nonsynonymous SNV	AGPAT4:NM_020133:exon8:c.C878T:p.T293I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.023	B	0.012	B	0.596	N	1.000	N	0.75	N	1.47	T	-0.974	T	0.019	T	0.032	1.579	11.24	2.59	0.328	0.596	7.564	0.021	0.0119487896446	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479412309	6.843e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	1.97e-05	1.968e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.813e-05	0	0	0	0	0	0	0	0	0.0002	0.227	0.18498	T	0.213	0.26467	T	0.0	0.02946	B	0.001	0.04355	B	0.596028	0.11003	N	0.836229	1	0.08975	N	1.08	0.27187	L	1.47	0.31987	T	-2.0	0.46146	N	0.113	0.10056	-0.9741	0.36323	T	0.019	0.08126	T	10	0.08887109	0.15343	T	0.011949	0.30076	T	0.021	0.04004	0.316	0.29258	0.043077524339	0.03247	0.32973086744049046	0.32886	0.795556768114	0.66026	0.384480178356	0.22890	T	0.112059	0.42804	T	-0.336844	0.05610	T	-0.72163	0.04717	T	0.0938196778297424	0.11664	T	0.419858	0.11135	T	0.048303947	0.08396	0.06462313	0.12978	0.048303947	0.08396	0.06462313	0.12978	-4.636	0.32621	T	.	.	0.075	0.05668	B	.	.	1.620281	0.20694	14.87	0.99132818409249923	0.53302	0.30397	0.24072	N	AEFBCI	0.036488	0.04869	N	-0.492991783003352	0.22309	1.190377	-0.370199737402445	0.25890	1.426607	0.858850227393866	0.25186	0.651	0.46895	0	0.550933	0.16991	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.17	2.59	0.30091	0.647000	0.24500	3.619000	0.39279	0.660000	0.55035	0.690000	0.28531	1.000000	0.68203	0.912000	0.44740	0.3856:0.0:0.6144:0.0	7.564	0.27033	870	0.31527	Acyltransferase, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1440.98	40	chr6	161139586	.	G	A	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.130e-01;DP=812;ExcessHet=0.0000;FS=2.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-9.200e-02;SOR=0.906	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1455,0,1109	20	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,85,1:95:99:1|0:170561949_GCAA_G:2665,0,110,2877,444,5720:170561949	1	15	4	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,114,0,0:139:99:.:.:3651,0,528,3387,780,4971,3387,780,4971,4971	2	1	11	5
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:133,0,12:145:10:.:.:10,346,5122,0,4478,4374	1	1	3	2
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,24:112:56:.:.:56,0,1437	5	0	14	2
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	1/2:0,60,55:117:99:4814,2296,2117,2518,0,2476	12	0	7	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,22,0:50:99:.:.:439,0,579,514,643,1158	0	6	14	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	1/5:9,43,0,0,0,51,0:106:99:3455,1701,2169,3548,2328,4286,3548,2328,4286,4286,3548,2328,4286,4286,4286,1701,0,1848,1848,1848,1633,3548,2328,4286,4286,4286,1848,4286	1	3	5	0
chr7	11831855	11831855	-	GCAGCG	exonic	THSD7A	.	nonframeshift insertion	THSD7A:NM_015204:exon1:c.91_92insCGCTGC:p.L34_L35insPL,	.	.	413	987	26	4	92	126	0.0169323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5652.12	34	chr7	11831843	.	AGCAGCGGCAGCG	A,AGCAGCGGCAGCGGCAGCG	5652.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.293;DP=1040;ExcessHet=0.6776;FS=3.536;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=0.114;SOR=0.537	GT:AD:DP:GQ:PL	0/1:83,71,0:154:99:2667,0,3243,2917,3458,6375	17	0	3	0
chr7	19117046	19117063	GCCGCCGCCGCCGCCCGC	-	exonic	TWIST1	.	nonframeshift deletion	TWIST1:NM_000474:exon1:c.259_276del:p.A87_G92del,	Craniosynostosis 1, Autosomal dominant;Robinow-Sorauf syndrome, Autosomal dominant;Saethre-Chotzen syndrome, Autosomal dominant;Saethre-Chotzen syndrome with eyelid anomalies, Autosomal dominant	.	1	1508	11	1	1	14	0.00429185	.	.	252665	TWIST1-related_craniosynostosis|Saethre-Chotzen_syndrome|not_specified|not_provided	MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440|MONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400,Orphanet:794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0014	0	0	0.0065	0.0014	0.0018	0.0063	0.0004	0.0001921	5	26028	rs544465774	0.0022	0.0022	0.0022	0.0022	0.0167	0.0021	0.0021	0.0155	0.0150	0.0007	0.0030	0.0112	0.0167	0.0111	0.0019	0.0013	0.0047	0.0012	0.0029	0.0029	0.0025	0.0033	0.0228	0.0027	0.0026	0.0194	0.0181	0.0005	0	0.0017	0.0102	0.0228	0.0147	0.0034	0.0012	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2162.94	35	chr7	19117045	.	TGCCGCCGCCGCCGCCCGC	T	2162.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.827;DP=848;ExcessHet=0.0000;FS=0.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.77;ReadPosRankSum=1.33;SOR=0.757	GT:AD:DP:GQ:PL	0/1:72,57:129:99:2177,0,2847	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2015.4	153	chr7	27094574	.	GACCC	G	2015.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.128e+00;DP=1455;ExcessHet=1.1607;FS=134.511;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=2.43;ReadPosRankSum=1.51;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,20:89:99:0|1:27094574_GACCC_G:258,0,2661:27094574	16	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1814.7	153	chr7	27094578	.	C	CGGGG	1814.7	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.330e+00;DP=1572;ExcessHet=1.1607;FS=125.938;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=1.71;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,19:88:99:0|1:27094574_GACCC_G:251,0,2664:27094574	15	0	5	1
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92,0:92:99:.:.:2650,276,0,2650,276,2650	0	18	1	0
chr7	43878181	43878181	C	T	exonic	URGCP	.	nonsynonymous SNV	URGCP:NM_017920:exon5:c.G1255A:p.V419M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.986	D	0.736	P	0.014	N	0.869	N	1.5	L	2.86	T	-1.101	T	0.041	T	0.394	1.342	10.41	3.66	0.662	1.757	9.429	0.049	0.00953175416541	.	0.000199681	4.968e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs549475424	2.599e-05	2.599e-05	1.906e-05	3.3e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0002	0	0	0	0	0	0.0002	4.496e-06	1.656e-05	0.0004	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.003	0.68238	D	0.005	0.72224	D	0.986	0.61523	D	0.736	0.55529	P	0.013793	0.28730	N	0.347831	0.999999	0.08975	N	1.655	0.42436	L	2.86	0.10482	T	-2.53	0.54864	D	0.365	0.42834	-1.1015	0.03914	T	0.041	0.17657	T	10	0.058537155	0.06896	T	0.009532	0.24947	T	0.049	0.13647	0.363	0.36874	0.0954503805726	0.09146	0.5490650803389757	0.54832	1.04732435753	0.76000	0.528758645058	0.42858	T	0.086845	0.37812	T	-0.358845	0.04196	T	-0.442714	0.28504	T	0.52882307767868	0.33690	D	0.875412	0.58680	D	0.122735195	0.28834	0.18796338	0.42059	0.122735195	0.28834	0.18796338	0.42058	-7.417	0.57024	T	.	.	0.312	0.53951	B	.;.;.;.	.;.;.;.	2.515786	0.32499	19.06	0.99326812769823225	0.59622	0.33179	0.24766	N	AEFBI	0.123624	0.23931	N	-0.0858675045998249	0.38011	2.21991	-0.217820904550292	0.30897	1.743666	0.999986275941694	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.48	3.66	0.41111	1.241000	0.32346	1.503000	0.26970	0.549000	0.26987	0.001000	0.13787	0.847000	0.27355	0.794000	0.37478	0.0:0.7753:0.1443:0.0804	9.429	0.37760	769	0.49307	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	875.98	38	chr7	43878181	.	C	T	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.130e-01;DP=969;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-1.016e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:41,41:82:99:890,0,871	20	0	1	0
chr7	44114179	44114181	AGA	-	exonic	AEBP1	.	nonframeshift deletion	AEBP1:NM_001129:exon21:c.3395_3397del:p.K1133del,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0012	0.0010	0.0001	0.0002	0.0010	0.0011	0.0013	0.0011319	175	154602	rs758448838	1.327e-05	0.0059	1.53e-05	1.122e-05	0.0003	8.49e-06	6.84e-06	0.0002	0.0001	0.0003	0	0	0	3.824e-05	0	4.602e-06	1.688e-05	0	2.632e-05	0.0001	2.573e-05	2.694e-05	9.68e-05	8.15e-06	5.15e-06	3.256e-05	1.919e-05	9.68e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	117.94	35	chr7	44114178	.	GAGA	G	117.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=1118;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=-1.730e-01;SOR=0.578	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,10:106:99:0|1:44114178_GAGA_G:132,0,3919:44114178	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:2,94,10:106:99:1|0:44114178_GAGA_G:2925,424,131,2543,0,3900:44114178	8	5	7	0
chr7	45084206	45084206	C	0	exonic	NACAD	.	.	.	.	.	527	929	28	5	33	71	0.0200422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	2190.13	33	chr7	45084206	.	C	T,*	2190.13	.	AC=4,1;AF=0.118,0.029;AN=34;BaseQRankSum=1.42;DP=744;ExcessHet=0.0409;FS=1.942;InbreedingCoeff=0.1581;MLEAC=5,1;MLEAF=0.147,0.029;MQ=50.91;MQRankSum=1.53;QD=12.52;ReadPosRankSum=-2.863e+00;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,17,0:63:99:0|1:45084206_C_T:557,0,1867,696,1918,2614:45084206	13	1	2	4
chr7	45084219	45084338	GAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	-	exonic	NACAD	.	nonframeshift deletion	NACAD:NM_001146334:exon2:c.1842_1961del:p.I625_T664del,	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0061	0	0	0	0.0005	0	0.0004	.	.	.	.	0.0013	0.0015	0.0012	0.0013	0.0048	0.0012	0.0012	0.0038	0.0035	0.0048	0.0017	0.0029	0.0030	0.0040	0.0016	0.0010	0.0018	0.0006	0.0033	0.0017	0.0029	0.0037	0.0160	0.0029	0.0027	0.0132	0.0121	0.0160	0	0.0057	0.0007	0.0025	0.0028	0	0.0011	0.0015	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,21,0:153:99:0|1:45084206_C_T:408,0,5376,805,5439,6244:45084206	17	0	3	0
chr7	45084218	45084338	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	0	exonic	NACAD	.	.	.	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,21,0:153:99:0|1:45084206_C_T:408,0,5376,805,5439,6244:45084206	17	0	3	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	773.64	33	chr7	45084224	.	T	A,*	773.64	.	AC=3,4;AF=0.136,0.182;AN=22;BaseQRankSum=1.67;DP=1143;ExcessHet=0.4362;FS=6.611;InbreedingCoeff=0.0073;MLEAC=5,6;MLEAF=0.227,0.273;MQ=47.16;MQRankSum=-4.237e+00;QD=1.81;ReadPosRankSum=-1.513e+00;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:132,0,21:153:99:0|1:45084206_C_T:408,805,6244,0,5439,5376:45084206	5	1	1	10
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,21,0:67:99:0|1:47829595_G_C:166,0,1049,300,1108,1408:47829595	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,21,0:67:99:0|1:47829595_G_C:166,0,1049,300,1108,1408:47829595	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,21,0:67:99:0|1:47829595_G_C:166,0,1049,300,1108,1408:47829595	0	0	17	1
chr7	48248354	48248354	G	A	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon14:c.G1775A:p.C592Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	1.04	L	-2.47	D	0.510	D	0.701	D	0.426	3.216	16.77	4.28	2.069	2.006	12.570	0.553	0.0405090763225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000029	0.55875	D	0.000000	0.999475	0.21134	N	.	.	.	-2.47	0.88997	D	-3.74	0.71042	D	0.199	0.21969	0.510	0.90681	D	0.701	0.89694	D	10	0.5629109	0.64889	D	0.040509	0.59414	D	0.553	0.81544	0.763	0.89133	0.536194329819	0.53270	0.20827378623272777	0.20743	0.0592235808288	0.06579	0.391275495291	0.23849	T	.	.	.	0.0806119	0.62112	D	-0.121983	0.61640	T	0.978814899921417	0.72514	D	0.508649	0.16166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	0.74850	P	.	.	2.925209	0.38847	20.8	0.9788165720621913	0.36607	0.48633	0.28251	N	AEFBI	0.091991	0.18628	N	0.2128527479661	0.51821	3.36052	0.104618581386167	0.44784	2.753543	0.938660646895407	0.27353	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	4.28	4.28	0.50183	2.312000	0.43386	9.422000	0.80760	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	12.570	0.55679	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	917.98	36	chr7	48248354	.	G	A	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.855e+00;DP=870;ExcessHet=0.0000;FS=1.494;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.85;ReadPosRankSum=-1.440e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:69,48:117:99:932,0,1548	20	0	1	0
chr7	50368103	50368103	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C258G:p.C86W,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.668	P	.	.	1.000	N	.	.	.	.	-1.018	T	0.112	T	0.137	-0.026	3.882	3.1	0.968	0.109	5.968	0.049	0.00633516232254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.992	0.64738	D	0.668	0.53048	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.55	0.68764	D	0.367	0.40864	-1.0175	0.24528	T	0.112	0.40168	T	7	0.22200659	0.38941	T	0.006335	0.16639	T	0.049	0.13647	0.296	0.26041	0.134007934775	0.12933	.	.	.	.	.	.	.	0.208199	0.56807	T	-0.197415	0.21179	T	-0.521349	0.20158	T	0.298957865891781	0.24961	T	0.225777	0.02969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.77631	P	.	.	0.166192	0.05559	2.017	0.58119396721632754	0.05921	0.02436	0.06868	N	AEFGBIJ	0.155410	0.28061	N	-0.424791676120027	0.24603	1.329603	-0.604950428239627	0.19365	1.038678	0.99998324477684	0.51787	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	3.1	0.34780	0.101000	0.15088	-0.142000	0.11507	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.1191:0.0:0.8809	5.968	0.18570	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	31.33	132	chr7	50368103	.	C	G	31.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.278e+00;DP=2389;ExcessHet=0.0000;FS=100.136;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=1.37;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,22:91:45:0|1:50368103_C_G:45,0,1964:50368103	19	0	1	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,22:91:45:0|1:50368103_C_G:45,0,1964:50368103	5	0	11	5
chr7	67018127	67018127	A	G	exonic	TYW1	.	nonsynonymous SNV	TYW1:NM_018264:exon6:c.A845G:p.H282R,	.	.	433	1069	20	0	0	20	0.00926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.082	U	1.000	N	1.245	L	2.35	T	-1.017	T	0.032	T	0.069	0.887	8.600	-3.03	-0.355	0.345	5.299	0.012	0.00492190442855	0.0036	0.00139776	0.0032	0.0007	0.0021	0	0.0006	0.0049	0.0056	0.0017	0.0029624	458	154602	rs151211596	0.0027	0.0027	0.0027	0.0028	0.0177	0.0027	0.0026	0.0149	0.0139	0.0006	0.0021	0.0302	0	0.0008	0.0177	0.0022	0.0049	0.0021	0.0024	0.0024	0.0025	0.0024	0.0027	0.0022	0.0021	0.0021	0.0020	0.0006	0	0.0027	0.0315	0	0.0008	0.0170	0.0024	0.0057	0.0019	0.331	0.13088	T	0.546	0.09588	T	0.0	0.02946	B	0.001	0.04355	B	0.081652	0.02360	U	1.924850	1	0.08975	N	1.475	0.37068	L	2.35	0.16217	T	-1.39	0.34397	N	0.049	0.02088	-1.0174	0.24560	T	0.032	0.13811	T	10	0.004709065	0.00099	T	0.004922	0.12380	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.04465408029003341	0.04409	0.478080639592	0.46894	0.343472421169	0.16957	T	0.015643	0.14377	T	-0.676423	0.00050	T	-0.748402	0.03548	T	0.0079625145633254	0.00094	T	0.338066	0.08996	T	0.02772	0.02005	0.026523776	0.00746	0.02772	0.02005	0.026523776	0.00746	-4.091	0.25157	T	.	.	0.059	0.01668	B	.;.	.;.	-0.533800	0.01761	0.134	0.48357759294823449	0.04029	0.07538	0.13551	N	AEFDBIJ	0.037696	0.05221	N	-1.11572954101098	0.06363	0.2926881	-1.20958980720191	0.05755	0.2751005	0.0327877246785283	0.14072	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.1	-3.03	0.05100	0.755000	0.26070	-3.146000	0.03022	0.522000	0.23927	0.001000	0.13787	0.000000	0.08366	0.039000	0.14166	0.3219:0.4777:0.2005:0.0	5.299	0.15077	911	0.21964	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4289.11	38	chr7	67018127	.	A	G	4289.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.525;DP=1070;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.99;MQRankSum=0.838;QD=11.14;ReadPosRankSum=1.56;SOR=0.679	GT:AD:DP:GQ:PL	0/1:57,38:95:99:823,0,1340	19	0	2	0
chr7	72943489	72943489	A	G	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon12:c.A2701G:p.S901G	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.423	N	1.000	N	-1.15	N	3.71	T	-0.917	T	0.005	T	0.059	-1.225	0.060	0.978	-0.174	0.107	4.033	0.021	0.00546012293411	.	.	0.0009	0.0036	0.0002	0	0	6.083e-05	0.0011	0.0042	0.0001537	4	26028	rs1380695521	0.0004	0.0013	0.0003	0.0005	0.0034	0.0004	0.0004	0.0030	0.0029	0.0013	0.0004	3.856e-05	0.0009	7.501e-05	0.0006	0.0002	0.0005	0.0034	0.0015	0.0044	0.0014	0.0015	0.0040	0.0013	0.0012	0.0030	0.0029	0.0035	0	0.0013	0	0.0018	0.0002	0	0.0004	0.0010	0.0040	0.606	0.05918	T	0.434	0.18071	T	0.0	0.02946	B	0.0	0.01387	B	0.422657	0.12850	N	0.632230	1	0.08975	N	-0.55	0.02420	N	3.48	0.05188	T	0.09	0.06253	N	0.148	0.15046	-0.9170	0.45958	T	0.005	0.01651	T	10	0.0058024228	0.00129	T	0.00546	0.14045	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.07863447964617695	0.07798	.	.	0.404929339886	0.25754	T	0.002654	0.02045	T	-0.373035	0.03443	T	-0.773615	0.02651	T	0.000838523929588718	0.00008	T	0.0657934	0.00711	T	0.035841893	0.04295	0.030205606	0.01449	0.035841893	0.04294	0.030205606	0.01448	-3.479	0.16139	T	.	.	0.046	0.00080	B	.;.;.;.;.	.;.;.;.;.	0.882595	0.12556	9.087	0.62790535422526916	0.07053	0.00857	0.03413	N	AEFBCI	0.034025	0.04142	N	-1.55794901350863	0.01489	0.06498758	-1.50974880423192	0.02269	0.1040785	1.11452900667939E-5	0.02871	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.01	0.978	0.18859	0.169000	0.16457	1.644000	0.27808	-0.609000	0.04591	0.102000	0.22834	0.998000	0.33993	0.066000	0.16387	0.3363:0.3441:0.3196:0.0	4.033	0.09201	441	0.80015	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	82.98	39	chr7	72943489	.	A	G	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=892;ExcessHet=0.0000;FS=19.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.59;MQRankSum=-4.062e+00;QD=1.19;ReadPosRankSum=-1.041e+00;SOR=4.161	GT:AD:DP:GQ:PL	0/1:60,10:70:97:97,0,1438	20	0	1	0
chr7	74338861	74338861	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon3:c.C535T:p.P179S	.	.	430	1063	26	3	0	32	0.0148285	.	.	700213	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.64	T	0.007	B	0.016	B	0.000	D	1.000	D	0.345	N	-0.74	T	-0.838	T	0.210	T	0.199	3.047	16.17	4.92	2.578	7.406	16.914	0.143	.	0.0032	0.00459265	0.0046	0.0012	0.0027	0.0002	0.0003	0.0049	0.0108	0.0099	0.0043014	665	154602	rs61739991	0.0042	0.0042	0.0039	0.0046	0.0123	0.0041	0.0041	0.0100	0.0094	0.0005	0.0032	0.0044	0.0005	0.0004	0.0123	0.0041	0.0050	0.0102	0.0032	0.0032	0.0032	0.0031	0.0116	0.0029	0.0029	0.0092	0.0083	0.0010	0	0.0030	0.0049	0.0006	0.0003	0.0136	0.0045	0.0038	0.0116	0.07	0.35349	T	0.055	0.52060	T	0.007	0.14184	B	0.016	0.17743	B	0.000404	0.44736	D	0.150290	0.999984	0.54805	D	0.695	0.17993	N	-0.74	0.73205	T	-1.74	0.41239	N	0.344	0.40565	-0.8381	0.52773	T	0.210	0.56946	T	10	0.0058303773	0.00130	T	.	.	.	0.143	0.38195	.	.	0.434057395736	0.43027	0.6033479092388576	0.60265	0.7593053508	0.64165	0.618176221848	0.55472	T	0.100807	0.40697	T	-0.41675	0.01795	T	-0.363447	0.37653	T	0.0227129971421767	0.00990	T	0.79822	0.44736	T	0.066992566	0.14466	0.09611729	0.22824	0.066992566	0.14465	0.09611729	0.22824	-1.478	0.01783	T	.	.	0.073	0.10208	B	.;.;.	.;.;.	3.079231	0.41422	21.4	0.99525916157939909	0.69530	0.98437	0.82768	D	AEFDBCIJ	0.799496	0.72574	D	-0.276975217780625	0.30041	1.67133	-0.0949209573397272	0.35600	2.061546	0.999999999999923	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	4.702000	0.61504	4.757000	0.44693	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.391000	0.26581	0.0:1.0:0.0:0.0	16.914	0.86014	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4957.68	85	chr7	74338861	.	C	T	4957.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.163;DP=1599;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.389;SOR=0.652	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1187,0,1240	18	0	3	0
chr7	75494103	75494103	C	T	exonic	SPDYE5	.	nonsynonymous SNV	SPDYE5:NM_001306141:exon1:c.C56T:p.T19M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370679066	1.735e-05	1.779e-05	1.998e-05	1.465e-05	0.0001	1.174e-05	9.87e-06	5.455e-05	3.563e-05	6.345e-05	0.0001	0	0	0	0	1.39e-05	3.461e-05	0	0.0001	0.0001	6.431e-05	0.0002	0.0009	8.678e-05	7.267e-05	0.0006	0.0004	0.0001	0	0.0009	0	0	0	0	0	0	0	.	.	.	0.683	0.06052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.07811	.	.	.	.	.	.	.	0.054041654	0.05692	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.09492469075696154	0.09424	.	.	.	.	.	.	.	.	-0.551056	0.00287	T	-1.02933	0.00091	T	.	.	.	0.472453	0.14032	T	0.03612382	0.04384	0.087640025	0.20384	0.03612382	0.04384	0.087640025	0.20383	-4.863	0.35317	T	.	.	0.075	0.07937	B	.;.	.;.	-0.957906	0.00833	0.028	0.67514338957153119	0.08377	0.00008	0.00134	N	AEFI	.	.	.	.	.	.	.	.	.	3.61477705427234E-5	0.03775	0.162113	0.03585	0	0.105846	0.03286	0	0.175069	0.04249	0	0.082385	0.02281	0	0.049175	0.08855	0.453	0.453	0.15851	-0.004000	0.12813	0.272000	0.16669	-1.105000	0.01501	0.024000	0.20007	0.002000	0.18203	0.008000	0.08271	.	.	.	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	372.98	47	chr7	75494103	.	C	T	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.17;MQRankSum=-3.470e-01;QD=6.66;ReadPosRankSum=-9.580e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:36,20:56:99:387,0,821	20	0	1	0
chr7	77274516	77274518	AAC	-	exonic	CCDC146	.	nonframeshift deletion	CCDC146:NM_020879:exon11:c.1304_1306del:p.Q437del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.344e-05	0	0	0	0	2.583e-05	0	0	3.84e-05	1	26028	rs773176681	3.449e-06	3.42e-06	2.745e-06	4.16e-06	1.186e-05	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.712e-06	1.672e-05	1.186e-05	6.58e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2548.07	35	chr7	77274515	.	GAAC	G	2548.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.642;DP=805;ExcessHet=0.1072;FS=4.815;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=0.229;SOR=1.071	GT:AD:DP:GQ:PL	0/1:67,47:114:99:1717,0,2564	19	0	2	0
chr7	77293069	77293069	G	C	exonic	CCDC146	.	nonsynonymous SNV	CCDC146:NM_020879:exon18:c.G2533C:p.E845Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.783	P	0.36	B	0.000	N	1.000	D	1.845	L	0.97	T	-0.949	T	0.123	T	0.125	2.659	14.85	3.72	1.351	4.352	16.521	0.093	0.0118689613171	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.312e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.068	0.35726	T	0.202	0.27414	T	0.783	0.44368	P	0.36	0.43183	B	0.000002	0.62929	N	0.098890	0.999915	0.51042	D	1.19	0.30124	L	0.97	0.42502	T	-2.07	0.47344	N	0.15	0.15328	-0.9493	0.41092	T	0.123	0.42568	T	10	0.14718333	0.27892	T	0.011869	0.29919	T	0.093	0.26882	0.202	0.11659	0.313210971179	0.30940	0.5065618290665941	0.50578	0.199448872347	0.22341	0.37640196085	0.21745	T	0.006018	0.05459	T	-0.218612	0.18183	T	-0.551798	0.17153	T	0.796661913394928	0.46128	D	0.639136	0.25234	T	0.3131353	0.54055	0.26858756	0.52730	0.3131353	0.54055	0.26858756	0.52729	-7.405	0.56940	T	.	.	0.105	0.19357	B	.	.	4.014475	0.59245	24.1	0.99261574389805107	0.57222	0.86467	0.45753	D	AEFGHCI	0.523852	0.54728	D	0.158557028722422	0.49217	3.124647	0.23325272761807	0.51701	3.350474	0.94373774884694	0.27583	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.66	3.72	0.41857	4.840000	0.62513	4.725000	0.44525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.283:0.717:0.0	16.521	0.84164	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2517.11	33	chr7	77293069	.	G	C	2517.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=900;ExcessHet=0.1072;FS=2.848;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-4.420e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1013,0,1572	19	0	2	0
chr7	80666481	80666481	A	T	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001371080:exon5:c.A275T:p.N92I	Platelet glycoprotein IV deficiency, Autosomal recessive	.	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	3.505	H	-0.76	T	0.604	D	0.677	D	0.8	3.821	19.40	5.01	2.003	5.408	14.694	0.806	0.149068458386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.715	0.94732	H	-0.76	0.73417	T	-8.05	0.96608	D	0.925	0.93018	0.604	0.91952	D	0.677	0.88840	D	9	0.97210133	0.96844	D	0.149068	0.83092	D	0.806	0.93699	0.902	0.97858	0.580153967196	0.57686	0.9502354750495985	0.95006	3.66727572043E-4	0.00038	0.560888648033	0.47394	T	0.522756	0.83341	D	0.249474	0.78552	D	0.120575	0.78273	D	0.999582469463348	0.98022	D	0.968303	0.90741	D	0.9761588	0.98804	0.9415999	0.97872	0.9761588	0.98804	0.9415999	0.97873	-12.811	0.90413	D	0.705515531027337	0.78508	0.516	0.65310	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.839651	0.78995	27.0	0.9934587193798794	0.60371	0.69622	0.34261	D	AEFDBCIJ	0.572060	0.57579	D	0.779006468690267	0.84777	8.38318	0.691471910538916	0.81731	7.595706	0.999999359368932	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.01	5.01	0.66477	5.664000	0.67715	9.340000	0.80208	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	14.694	0.68719	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1171.98	35	chr7	80666481	.	A	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.700e-01;DP=812;ExcessHet=0.0000;FS=4.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=1.83;SOR=0.993	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1186,0,1231	20	0	1	0
chr7	83155170	83155170	G	A	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon2:c.C1471T:p.P491S	.	.	435	1082	4	0	1	5	0.00184502	.	.	1504036	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.937	N	1.32	L	2.46	T	-0.975	T	0.026	T	0.096	-0.161	3.215	-9.62	-2.036	-0.861	3.950	0.019	0.0097888096477	.	.	0.0002	0	0	0	0	3.087e-05	0.0011	0.0014	0.0001682	26	154602	rs767318084	8.063e-05	8.463e-05	5.157e-05	0.0001	0.0012	6.833e-05	6.356e-05	0.0010	0.0009	0	0	0	0	0	0	9.159e-06	5.148e-05	0.0012	4.19e-05	4.11e-05	2.724e-05	5.734e-05	0.0009	1.804e-05	1.188e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.013e-05	0	0.0009	0.243	0.17526	T	0.602	0.09655	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	2.45	0.15028	T	0.28	0.04233	N	0.135	0.14622	-0.9754	0.36037	T	0.026	0.10954	T	9	0.015186787	0.00319	T	0.009789	0.25540	T	0.019	0.03383	.	.	0.082315109003	0.07666	0.09714909841175079	0.09645	0.0512605439313	0.05640	0.258844912052	0.04753	T	.	.	.	-0.675584	0.00051	T	-0.788758	0.02199	T	0.0586373907399931	0.06951	T	0.106289	0.00793	T	0.019583767	0.00492	0.03894228	0.03875	0.019583767	0.00491	0.03894228	0.03875	-1.598	0.01977	T	.	.	0.062	0.01197	B	.;.	.;.	-0.667171	0.01399	0.081	0.81825165134500577	0.13879	0.01829	0.05679	N	AEFI	0.064812	0.12605	N	-1.48617116092876	0.01947	0.08548692	-1.64643695623573	0.01394	0.06300971	0.90687551103925	0.26243	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.81	-9.62	0.00458	-0.359000	0.07683	-11.531000	0.00597	-0.237000	0.07570	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.1996:0.454:0.1901:0.1563	3.950	0.08859	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1296.98	50	chr7	83155170	.	G	A	1296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.266e+00;DP=1125;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=1.08;SOR=0.688	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1311,0,1097	20	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,24:159:99:.:.:105,0,4593	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,33:162:99:.:.:160,0,4581	2	0	19	0
chr7	95409919	95409919	T	C	exonic	PON2	.	nonsynonymous SNV	PON2:NM_000305:exon6:c.A677G:p.N226S	.	.	437	1077	7	1	0	9	0.00416089	.	.	921467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.085	B	0.051	B	0.002	N	0.730	N	1.545	L	1.07	T	-1.031	T	0.069	T	0.044	0.219	5.179	-1.86	-0.180	0.650	6.006	0.044	0.00923354947888	.	0.00179712	0.0013	9.615e-05	0.0007	0	0	0.0001	0.0011	0.0084	0.0011255	174	154602	rs200897774	0.0007	0.0007	0.0004	0.0010	0.0097	0.0006	0.0006	0.0091	0.0089	0.0002	0.0005	3.828e-05	7.562e-05	0	0.0024	3.958e-05	0.0009	0.0097	0.0003	0.0003	0.0003	0.0004	0.0075	0.0003	0.0002	0.0055	0.0049	0.0001	0	0.0003	0	0	0	0	5.88e-05	0	0.0075	0.197	0.21144	T	0.184	0.35840	T	0.085	0.24868	B	0.051	0.25434	B	0.001927	0.37643	N	0.314375	0.730056	0.29838	N	0.965	0.23975	L	1.07	0.39586	T	-1.75	0.41428	N	0.194	0.21969	-1.0308	0.20195	T	0.069	0.28346	T	10	0.008585423	0.00194	T	0.009234	0.24249	T	0.044	0.11924	.	.	0.136095386433	0.13204	0.4477565924489617	0.44693	0.0750845404494	0.08422	0.294665873051	0.09609	T	0.275185	0.64771	T	-0.617057	0.00115	T	-0.653868	0.08685	T	0.00671209480234248	0.00075	T	0.79972	0.46414	T	0.061354306	0.12694	0.07400366	0.16143	0.061354306	0.12693	0.07400366	0.16143	-6.134	0.47387	T	.	.	0.054	0.00321	B	.;.;.;.	.;.;.;.	0.905215	0.12791	9.310	0.91435941211512672	0.20704	0.77254	0.37963	D	AEFBI	0.241856	0.36341	N	-0.644767521248969	0.17612	0.9077851	-0.620694263231787	0.18962	1.015291	0.999714150713502	0.42101	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.62	-1.86	0.07340	0.470000	0.21795	-2.928000	0.03221	-0.123000	0.13640	0.999000	0.42656	0.000000	0.08366	0.879000	0.42020	0.0:0.3391:0.2472:0.4137	6.006	0.18775	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	0.04762	1930.11	33	chr7	95409919	.	T	C	1930.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.842;DP=839;ExcessHet=0.1072;FS=1.150;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.513;SOR=0.809	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1023,0,1069	19	0	2	0
chr7	98851547	98851547	C	T	exonic	TMEM130	.	nonsynonymous SNV	TMEM130:NM_001134451:exon5:c.G574A:p.V192M	.	.	424	1095	3	0	0	3	0.00136799	.	.	2347149	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.996	D	0.875	P	0.002	N	1.000	N	1.61	L	2.39	T	-1.110	T	0.059	T	0.468	1.911	12.35	2.29	1.152	0.915	4.432	0.095	0.0156105316969	0.0003	0.000199681	0.0003	0	0	0	0	0.0003	0.0011	0.0007	0.0002264	35	154602	rs141333258	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0006	0.0001	0.0002	0	0	1.872e-05	0.0014	0.0002	0.0005	0.0008	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	2.408e-05	0.0186	0.0003	0	0	0	0	0.0003	0	0.0008	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.875	0.62107	P	0.001924	0.37643	N	0.170395	0.999996	0.08975	N	2.075	0.57047	M	2.39	0.15724	T	-1.3	0.36385	N	0.439	0.47765	-1.1102	0.03053	T	0.059	0.24834	T	10	0.013188064	0.00281	T	0.015611	0.36438	T	0.095	0.27398	.	.	0.194818534648	0.19098	0.2271477463715872	0.22629	0.694422212937	0.60765	0.503383338451	0.39298	T	0.082652	0.36877	T	-0.408664	0.02029	T	-0.457201	0.26905	T	0.0655597329055533	0.08014	T	0.891911	0.63503	D	0.030327994	0.02677	0.04809929	0.07073	0.030327994	0.02677	0.04809929	0.07073	-5.252	0.39466	T	.	.	0.134	0.34906	B	.;.;.;.	.;.;.;.	3.082382	0.41477	21.4	0.99716269062129848	0.81703	0.12713	0.17435	N	AEFDBI	0.069220	0.13690	N	-0.0383160405159819	0.40125	2.377687	-0.18210738631902	0.32193	1.829202	0.0127276204695258	0.12366	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.16	2.29	0.27658	0.497000	0.22222	1.204000	0.24858	0.581000	0.30040	0.280000	0.25141	0.657000	0.25995	0.021000	0.11733	0.0:0.5809:0.1872:0.232	4.432	0.10958	510	0.75209	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	610.98	40	chr7	98851547	.	C	T	610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=794;ExcessHet=0.0000;FS=0.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=0.191;SOR=0.573	GT:AD:DP:GQ:PL	0/1:51,31:82:99:625,0,1042	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,28:85:99:0|1:100175805_G_C:414,0,1895:100175805	0	0	21	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.925	D	0.126	N	1.000	N	1.04	L	0.47	T	-0.965	T	0.211	T	0.357	2.943	15.81	2.0	0.487	-0.454	3.297	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	128.88	67	chr7	100416308	.	C	G	128.88	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.008e+00;DP=1836;ExcessHet=0.6776;FS=205.333;InbreedingCoeff=-0.1450;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.612;SOR=11.906	GT:AD:DP:GQ:PL	0/1:60,20:80:15:15,0,1000	14	0	4	3
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,40,43:83:99:0|1:100773851_A_G:3457,1180,944,1000,0,755:100773851	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,43,40:83:99:0|1:100773849_CCAT_C:3457,1000,755,1180,0,944:100773849	0	11	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,25,4:126:99:.:.:758,0,3998,882,3905,4943	0	0	19	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,28,0:50:99:.:.:759,0,439,882,583,1769	0	0	5	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:44,9,49:102:99:0|1:100953371_C_A:1889,1654,3545,0,1473,1700:100953371	0	0	19	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,2,0:25:15:0|1:100953535_C_T:15,0,960,84,966,1050:100953535	3	0	15	0
chr7	100958085	100958100	CACCTCACACAGTACT	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.6306_6321del:p.T2103Pfs*57,	.	.	294	1173	54	0	1	55	0.0225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0012	0.0008	0.0012	0.0020	0.0010	0.0010	0.0017	0.0015	0.0010	0.0017	0.0017	0.0020	0.0003	0.0014	0.0010	0.0014	0.0006	0.0045	0.0049	0.0039	0.0053	0.0065	0.0041	0.0039	0.0040	0.0037	0.0048	0	0.0055	0.0053	0.0054	0.0041	0	0.0040	0.0073	0.0065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	414.18	1744	chr7	100958084	.	CCACCTCACACAGTACT	C	414.18	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.422;DP=30515;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.3125;MLEAC=3;MLEAF=0.500;MQ=49.75;MQRankSum=-1.451e+00;QD=34.51;ReadPosRankSum=-9.800e-01;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10:12:54:0|1:100958051_T_C:414,0,54:100958051	2	0	1	18
chr7	100958105	100958139	GCTTCACTTCCTCAATCACCACCTCTGAGATGCCC	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.6326_6360del:p.S2109Ifs*15,	.	.	308	1147	65	2	0	69	0.0292002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0023	0.0021	0.0024	0.0040	0.0022	0.0022	0.0035	0.0033	0.0025	0.0040	0.0030	0.0024	0.0006	0.0020	0.0023	0.0025	0.0011	0.0023	0.0025	0.0021	0.0025	0.0037	0.0021	0.0020	0.0024	0.0022	0.0027	0	0.0026	0.0020	0.0037	0.0020	0	0.0019	0.0033	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	431.94	1754	chr7	100958104	.	AGCTTCACTTCCTCAATCACCACCTCTGAGATGCCC	A	431.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=29809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.93;MQRankSum=-1.866e+00;QD=30.85;ReadPosRankSum=-2.300e-01;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,11:14:93:0|1:100958051_T_C:446,0,93:100958051	20	0	1	0
chr7	100958135	100958135	T	0	exonic	MUC3A	.	.	.	.	.	80	0	58	87	1	233	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	24112.57	1331	chr7	100958135	.	T	C,*	24112.57	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=-1.492e+00;DP=16684;ExcessHet=5.3821;FS=1.190;InbreedingCoeff=0.0278;MLEAC=20,2;MLEAF=1.00,0.111;MQ=59.22;MQRankSum=-1.577e+00;QD=17.65;ReadPosRankSum=1.06;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,11:14:93:0|1:100958051_T_C:446,455,581,0,126,93:100958051	0	3	5	12
chr7	100958157	100958207	CTTCACTTCTTCGATCACCACCACTGAGAACGCCACACACAGTACTCCCAA	-	exonic	MUC3A	.	nonframeshift deletion	MUC3A:NM_005960:exon2:c.6378_6428del:p.N2136_E2152del,	.	.	450	1011	61	0	0	61	0.0292847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0019	0.0020	0.0025	0.0040	0.0022	0.0021	0.0035	0.0033	0.0022	0.0040	0.0028	0.0023	0.0008	0.0024	0.0023	0.0027	0.0013	0.0079	0.0076	0.0074	0.0085	0.0115	0.0072	0.0069	0.0097	0.0090	0.0115	0	0.0093	0.0051	0.0113	0.0097	0	0.0056	0.0145	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	428.94	1446	chr7	100958156	.	GCTTCACTTCTTCGATCACCACCACTGAGAACGCCACACACAGTACTCCCAA	G	428.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=27131;ExcessHet=0.0000;FS=6.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.00;MQRankSum=-6.380e-01;QD=30.64;ReadPosRankSum=1.39;SOR=0.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,11:14:81:0|1:100958051_T_C:443,0,81:100958051	20	0	1	0
chr7	100958283	100958283	G	0	exonic	MUC3A	.	.	.	.	.	1044	288	14	0	176	190	0.0237288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	678.18	690	chr7	100958283	.	G	T,*	678.18	.	AC=1,1;AF=0.250,0.250;AN=4;BaseQRankSum=-2.300e-02;DP=12150;ExcessHet=1.7609;FS=94.798;InbreedingCoeff=0.2063;MLEAC=4,4;MLEAF=1.00,1.00;MQ=51.38;MQRankSum=1.44;QD=3.75;ReadPosRankSum=1.21;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,10:13:78:0|1:100958270_T_C:411,420,529,0,109,78:100958270	0	0	1	19
chr7	100958296	100958326	CACAGGTGGGGGACCACCGAGACCACATCCT	0	exonic	MUC3A	.	.	.	.	.	1113	167	100	11	131	253	0.267544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1430.05	690	chr7	100958296	.	CACAGGTGGGGGACCACCGAGACCACATCCT	C,*	1430.05	.	AC=1,1;AF=0.250,0.250;AN=4;BaseQRankSum=3.59;DP=12197;ExcessHet=1.7609;FS=29.268;InbreedingCoeff=0.2063;MLEAC=4,4;MLEAF=1.00,1.00;MQ=53.84;MQRankSum=-4.130e+00;QD=5.88;ReadPosRankSum=-4.868e+00;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,10:13:78:0|1:100958270_T_C:411,420,529,0,109,78:100958270	0	0	1	19
chr7	100958300	100958300	-	TACTACCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.6521_6522insTACTACCA:p.R2174Sfs*123,	.	.	1224	42	0	12	244	268	0.222222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0005	0.0025	0.0022	0.0051	0.0019	0.0018	0.0017	0.0015	0.0009	0.0023	0.0021	0.0044	0.0077	0.0051	0.0021	0.0016	0.0015	0.0031	0.0097	0.0041	0.0019	0.0077	0.0018	0.0014	0.0022	0.0016	0.0009	0	0.0077	0.0093	0	0	0	0.0044	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7367.84	690	chr7	100958300	.	G	GTACTACCA,GTACTCCCA,*	7367.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;BaseQRankSum=3.93;DP=11684;ExcessHet=0.9691;FS=59.982;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.77;MQRankSum=-1.937e+00;QD=15.48;ReadPosRankSum=-1.200e+00;SOR=1.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:3,0,0,10:13:78:0|1:100958270_T_C:411,420,529,420,529,529,0,109,109,78:100958270	0	0	0	18
chr7	100958300	100958300	G	0	exonic	MUC3A	.	.	.	.	.	218	0	0	4	4	12	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7367.84	690	chr7	100958300	.	G	GTACTACCA,GTACTCCCA,*	7367.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;BaseQRankSum=3.93;DP=11684;ExcessHet=0.9691;FS=59.982;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.77;MQRankSum=-1.937e+00;QD=15.48;ReadPosRankSum=-1.200e+00;SOR=1.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:3,0,0,10:13:78:0|1:100958270_T_C:411,420,529,420,529,529,0,109,109,78:100958270	0	0	0	18
chr7	100958301	100958301	G	0	exonic	MUC3A	.	.	.	.	.	1236	33	0	10	243	263	0.232558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7448.84	690	chr7	100958301	.	G	GCTTCATTTCTTTGATAACCACCTC,GCTTCACTTCTTTGATAACCACCTC,*	7448.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11688;ExcessHet=0.9691;FS=59.903;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.59;MQRankSum=-1.621e+00;QD=15.49;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:3,0,0,10:13:78:0|1:100958270_T_C:411,420,529,420,529,529,0,109,109,78:100958270	0	0	0	18
chr7	100958304	100958304	G	0	exonic	MUC3A	.	.	.	.	.	1234	37	0	13	238	264	0.26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	11635.88	690	chr7	100958304	.	G	A,*	11635.88	.	AC=2,2;AF=0.333,0.333;AN=6;DP=11706;ExcessHet=0.9691;FS=19.376;InbreedingCoeff=0.2364;MLEAC=7,7;MLEAF=1.00,1.00;MQ=49.65;MQRankSum=-3.637e+00;QD=21.91;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,10:13:78:0|1:100958270_T_C:411,420,529,0,109,78:100958270	0	1	0	18
chr7	100958305	100958305	-	ACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.6526_6527insACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA:p.G2176Dfs*68,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0200	0.0006	0.0165	0.0233	0.0342	0.0175	0.0165	0.0214	0.0175	0	0.0048	0.0133	0.0028	0.0486	0.0312	0.0187	0.0291	0.0342	0.0021	0.0022	0	0.0042	0.0062	0.0010	0.0007	0.0011	0.0006	0	0	0.0062	0	0	0	0	0.0028	0	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10738.97	690	chr7	100958305	.	G	GACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,GACCCTGTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,*	10738.97	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11701;ExcessHet=0.9691;FS=26.764;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=49.69;MQRankSum=-5.520e+00;QD=30.42;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:3,0,0,10:13:78:0|1:100958270_T_C:411,420,529,420,529,529,0,109,109,78:100958270	0	0	0	18
chr7	100958305	100958305	G	0	exonic	MUC3A	.	.	.	.	.	1235	37	1	5	244	255	0.129412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10738.97	690	chr7	100958305	.	G	GACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,GACCCTGTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,*	10738.97	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11701;ExcessHet=0.9691;FS=26.764;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=49.69;MQRankSum=-5.520e+00;QD=30.42;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:3,0,0,10:13:78:0|1:100958270_T_C:411,420,529,420,529,529,0,109,109,78:100958270	0	0	0	18
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,61,0:151:99:0|1:100960582_T_A:2280,0,3500,2551,3683,6234:100960582	0	0	15	0
chr7	100992128	100992128	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C1565T:p.T522I,	.	.	395	1126	1	0	0	1	0.000443853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	.	.	1.000	N	0	N	2.74	T	-0.969	T	0.019	T	0.043	-0.151	3.264	0.695	0.662	0.065	7.253	0.059	0.00580978232216	.	0.00159744	0.0028	0	0.0026	0	0	0	0.0042	0.0076	0.0005175	80	154602	rs371055512	0.0005	0.0006	0.0003	0.0007	0.0076	0.0004	0.0004	0.0071	0.0069	6.333e-05	5.619e-05	0	0	0	0.0002	1.854e-06	0.0006	0.0076	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	7.215e-05	0	6.533e-05	0	0	0	0	0	0	0.0077	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.74	0.11730	T	-0.86	0.23372	N	0.038	0.01203	-0.9691	0.37386	T	0.019	0.07939	T	7	0.005603224	0.00124	T	0.00581	0.15101	T	0.059	0.16972	0.321	0.30064	0.0482279557977	0.04254	0.0018342329353403385	0.00169	.	.	0.484391391277	0.36662	T	0.003088	0.02494	T	-0.706253	0.00034	T	-0.782414	0.02381	T	0.0130791852591465	0.00229	T	0.326667	0.06836	T	0.046313137	0.07730	0.06582385	0.13397	0.046313137	0.07730	0.06582385	0.13396	-7.945	0.60694	D	.	.	0.415	0.60421	A	.;.	.;.	1.508359	0.19383	14.23	0.37451046858671216	0.02468	0.00188	0.01093	N	AEFDBI	0.026659	0.02041	N	-0.853019079297758	0.11976	0.5810165	-1.0182411444427	0.09384	0.4665719	4.19233504221828E-5	0.03989	0.554377	0.28877	0	0.626922	0.53725	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.695	0.695	0.17231	0.066000	0.14358	-1.402000	0.05524	-1.076000	0.01581	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9999:0.0:1.0E-4	7.253	0.25333	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1968.98	432	chr7	100992128	.	C	T	1968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.430e-01;DP=10164;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=1.00;QD=6.17;ReadPosRankSum=-5.000e-03;SOR=0.684	GT:AD:DP:GQ:PL	0/1:213,106:319:99:1983,0,4999	20	0	1	0
chr7	101034026	101034026	G	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G2610T:p.M870I,	.	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.001	B	.	.	1.000	N	0.345	N	4.49	T	-0.904	T	0.004	T	0.147	-0.786	0.714	-1.7	-0.225	-3.842	4.921	0.005	.	.	0.00239617	0.0015	9.61e-05	0.0002	0.0001	0	0	0.0022	0.0110	0.0013519	209	154602	rs542330663	0.0007	0.0007	0.0004	0.0010	0.0116	0.0007	0.0007	0.0110	0.0107	0	9.105e-05	0	0	0	0.0005	2.715e-06	0.0008	0.0116	0.0004	0.0004	0.0002	0.0006	0.0119	0.0003	0.0003	0.0094	0.0085	4.828e-05	0	0	0	0.0004	0	0	0	0	0.0119	0.793	0.03175	T	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	4.49	0.02049	T	-0.2	0.10136	N	0.058	0.02964	-0.9044	0.47515	T	0.004	0.01435	T	9	0.0033895671	0.00059	T	.	.	.	0.005	0.00259	0.293	0.25560	0.0138822411134	0.00435	0.00965669003877455	0.00927	.	.	0.288035869598	0.08636	T	0.017574	0.14314	T	-0.705709	0.00034	T	-0.776091	0.02573	T	0.0044548981687799	0.00048	T	0.321068	0.06505	T	0.044918846	0.07262	0.058863923	0.10949	0.044918846	0.07262	0.058863923	0.10948	-3.155	0.11939	T	.	.	0.242	0.47632	B	.	.	-1.081295	0.00663	0.018	0.26402064642526379	0.01263	0.00040	0.00335	N	AEFBI	0.023003	0.01223	N	-1.71357215694324	0.00794	0.03433762	-1.80502343889296	0.00743	0.03312437	1.58845621645457E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	0.852	-1.7	0.07721	-3.170000	0.00633	-10.305000	0.00716	-1.301000	0.01244	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.318:0.682	4.921	0.13224	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	0.02381	1317.98	656	chr7	101034026	.	G	T	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=14117;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-2.110e-01;SOR=0.707	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1332,0,1648	20	0	1	0
chr7	106868873	106868873	G	C	exonic	PIK3CG	.	nonsynonymous SNV	PIK3CG:NM_001282426:exon2:c.G1312C:p.A438P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.009	B	0.006	B	0.054	N	0.999	N	1.52	L	-0.47	T	-0.925	T	0.214	T	0.46	-0.765	0.772	-0.295	-0.362	0.150	10.148	0.144	0.0157302269308	.	.	8.249e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs772698550	1.094e-05	1.094e-05	9.528e-06	1.238e-05	0.0002	6.48e-06	5.24e-06	0.0001	8.645e-05	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.285	0.21343	T	0.009	0.15093	B	0.006	0.12133	B	0.054265	0.22738	N	0.505564	0.998584	0.22057	N	1.79	0.46772	L	-0.47	0.70133	T	-0.8	0.22078	N	0.392	0.44283	-0.9248	0.44886	T	0.214	0.57468	T	10	0.20050484	0.36099	T	0.01573	0.36624	T	0.144	0.38394	0.475	0.55182	0.600052395692	0.59687	0.38066093143476304	0.37981	0.538981638024	0.51144	0.338224768639	0.16172	T	0.506618	0.82473	D	-0.181117	0.23569	T	-0.31641	0.42968	T	0.0818836679106624	0.10227	T	0.89861	0.64536	D	0.12010698	0.28269	0.10853943	0.26148	0.12010698	0.28269	0.10853943	0.26147	-4.033	0.24296	T	.	.	0.093	0.14247	B	.;.;.	.;.;.	0.067508	0.04768	1.387	0.78195316099110701	0.12196	0.61068	0.31377	D	AEFBI	0.308872	0.41533	N	-1.0497473155042	0.07593	0.3532162	-1.0459827684888	0.08790	0.4339704	0.999593804752265	0.40745	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.73	-0.295	0.12192	0.329000	0.19442	0.320000	0.17174	-0.633000	0.04490	0.982000	0.35529	0.188000	0.23474	0.019000	0.11356	0.3937:0.0:0.6063:0.0	10.148	0.41951	274	0.89249	Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain|Phosphatidylinositol 3-kinase, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1033.98	38	chr7	106868873	.	G	C	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.861;DP=1286;ExcessHet=0.0000;FS=0.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=1.34;SOR=0.836	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1048,0,513	20	0	1	0
chr7	128865170	128865170	G	A	exonic	ATP6V1F	.	nonsynonymous SNV	ATP6V1F:NM_001198909:exon2:c.G209A:p.R70H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	0	N	0.9	T	-1.033	T	0.029	T	0.077	0.705	7.757	-6.49	-1.440	-1.086	3.781	0.009	.	.	0.00259585	0.0007	0	0.0149	0	0	0.0003	0	0.0007	0.0005239	81	154602	rs139719863	0.0009	0.0009	0.0010	0.0008	0.0152	0.0009	0.0008	0.0142	0.0138	6.33e-05	0.0152	0	0.0058	0	0	0.0004	0.0008	0.0007	0.0012	0.0012	0.0010	0.0013	0.0078	0.0010	0.0010	0.0067	0.0063	9.626e-05	0	0.0078	0	0.0042	0	0	0.0003	0.0005	0.0021	0.254	0.16903	T	0.226	0.25438	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	0.02	0.06739	N	0.041	0.01421	-1.0328	0.19554	T	0.029	0.12541	T	7	0.0034773946	0.00062	T	.	.	.	0.009	0.00846	.	.	0.311889312631	0.30795	0.5175617733489886	0.51679	0.328214677008	0.34941	0.276774674654	0.07046	T	.	.	.	-0.685422	0.00045	T	-0.743712	0.03736	T	0.00435369686266686	0.00046	T	0.378362	0.09086	T	.	.	.	.	.	.	.	.	-3.829	0.21238	T	.	.	0.084	0.09675	B	.	.	-0.522123	0.01798	0.140	0.57781596749257502	0.05845	0.00124	0.00775	N	AEFBI	0.014420	0.00229	N	-1.27142654698244	0.04024	0.1808481	-1.46875404717839	0.02604	0.12007	0.999999976465914	0.74766	0.614807	0.35715	0	0.552637	0.17590	0	0.616094	0.41390	0	0.491896	0.07777	0	.	.	3.24	-6.49	0.01720	-1.096000	0.03463	-0.387000	0.09501	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2231:0.0:0.3224:0.4545	3.781	0.08200	617	0.66297	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	964.98	33	chr7	128865170	.	G	A	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=815;ExcessHet=0.0000;FS=2.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.54;ReadPosRankSum=2.33;SOR=0.657	GT:AD:DP:GQ:PL	0/1:67,46:113:99:979,0,1375	20	0	1	0
chr7	130024342	130024342	C	T	exonic	ZC3HC1	.	nonsynonymous SNV	ZC3HC1:NM_001282191:exon7:c.G941A:p.R314H	.	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.06	B	0.016	B	0.040	N	0.756	D	1.175	L	0.97	T	-0.993	T	0.086	T	0.249	2.177	13.24	3.66	0.672	2.825	10.239	0.017	0.00798130983087	.	0.000199681	8.244e-05	0	0	0.0002	0	6e-05	0	0.0002	7.12e-05	11	154602	rs532243281	3.831e-05	3.831e-05	3.267e-05	4.4e-05	0.0005	3.025e-05	2.719e-05	0.0001	7.838e-05	2.987e-05	0	0	0.0001	1.873e-05	0.0005	2.158e-05	0.0001	0.0002	4.598e-05	4.593e-05	2.571e-05	6.717e-05	0.0002	2.109e-05	1.526e-05	1.171e-05	6.25e-06	4.813e-05	0	6.552e-05	0	0.0002	0	0	4.411e-05	0	0	0.217	0.24468	T	0.171	0.32040	T	0.056	0.23119	B	0.01	0.17743	B	0.039948	0.24113	N	0.448888	0.755577	0.33978	D	1.445	0.36358	L	0.97	0.50976	T	-0.48	0.30762	N	0.163	0.35938	-0.9932	0.31775	T	0.086	0.33578	T	10	0.02876544	0.01007	T	0.007981	0.21162	T	0.017	0.02790	0.257	0.19845	0.550759897685	0.54733	0.1833811266265072	0.18257	0.380324370331	0.39403	0.334584832191	0.15625	T	0.008458	0.07766	T	-0.359713	0.04146	T	-0.449932	0.27704	T	0.0529311148947372	0.06008	T	0.845515	0.55085	T	0.025749762	0.01548	0.034040794	0.02402	0.025749762	0.01548	0.034040794	0.02401	-4.29	0.30122	T	.	.	0.074	0.12512	B	.;.;.;.	.;.;.;.	3.368502	0.46533	22.3	0.97642918733566575	0.35091	0.78334	0.38631	D	AEFBCI	0.228775	0.35240	N	-0.335032732842041	0.27827	1.529817	-0.176279110505656	0.32412	1.843684	0.998982580487661	0.38135	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	3.66	0.41111	2.999000	0.49161	2.656000	0.33848	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.8356:0.0:0.1644	10.239	0.42479	540	0.73006	Nuclear-interacting partner of ALK/Rsm1-like;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1400.98	34	chr7	130024342	.	C	T	1400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.000e-03;DP=808;ExcessHet=0.0000;FS=3.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=1.47;SOR=0.543	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1415,0,1086	20	0	1	0
chr7	130276689	130276689	T	C	exonic	CPA2	.	nonsynonymous SNV	CPA2:NM_001869:exon7:c.T647C:p.F216S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.53	M	2.83	T	-1.036	T	0.096	T	0.689	3.269	16.97	5.73	2.197	3.072	15.214	0.404	0.0785551842658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000003	0.62929	D	0.062447	0.999967	0.52935	D	2.32	0.66415	M	2.83	0.10771	T	-7.34	0.94594	D	0.661	0.67045	-1.0356	0.18668	T	0.096	0.36263	T	10	0.8845257	0.87775	D	0.078555	0.73031	D	0.404	0.71714	0.733	0.86633	0.680623934228	0.67790	0.8530802209854426	0.85270	0.735993720892	0.62978	0.558810353279	0.47100	T	0.183185	0.53545	T	-0.0035954	0.51156	T	-0.242941	0.50510	T	0.998667597770691	0.94798	D	0.945605	0.79272	D	0.97106665	0.98359	0.9326518	0.97276	0.97106665	0.98359	0.9326518	0.97277	-13.607	0.91709	D	.	.	0.857	0.80150	P	.	.	4.990115	0.82727	27.9	0.9985772734457018	0.93639	0.98471	0.83126	D	AEFDBI	0.860440	0.77830	D	0.624250550076681	0.74711	6.179374	0.558301510314435	0.71977	5.737727	0.999999925132279	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.73	5.73	0.89730	3.067000	0.49706	7.901000	0.73554	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.425000	0.27339	0.0:0.0:0.0:1.0	15.214	0.72940	.	.	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	830.98	49	chr7	130276689	.	T	C	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.950e-01;DP=943;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.62;ReadPosRankSum=-6.140e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/1:67,42:109:99:845,0,1641	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	2/2:2,0,117:119:99:5033,5040,5125,266,351,0	5	3	3	0
chr7	134163425	134163425	G	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon7:c.G824T:p.G275V	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.954	D	0.000	D	1.000	D	2.795	M	-0.21	T	0.022	D	0.451	T	0.532	2.816	15.38	5.94	2.817	4.643	19.116	0.375	0.0442243274613	0.0004	0.00119808	0.0011	0	0.0002	0	0	0.0004	0.0011	0.0065	0.000912	141	154602	rs151096154	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	0	0.0002	0.0029	0	0	0.0026	6.746e-05	0.0006	0.0059	0.0003	0.0003	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0003	0.0035	0.0002	0	0	0.0001	0.0005	0.0046	0.002	0.72154	D	0.007	0.69154	D	0.988	0.62325	D	0.954	0.69447	D	0.000220	0.47681	D	0.187222	0.999999	0.58761	D	2.75	0.80375	M	-0.21	0.66294	T	-6.23	0.90490	D	0.625	0.63968	0.022	0.82694	D	0.451	0.78497	T	10	0.013947934	0.00294	T	0.044224	0.61383	D	0.375	0.69358	.	.	0.759413666507	0.75722	0.5123889596735361	0.51160	0.341207361243	0.36058	0.423825770617	0.28363	T	0.060127	0.31303	T	-0.272933	0.11432	T	-0.162214	0.58151	T	0.130916499232425	0.15466	T	0.806819	0.45619	T	0.9443252	0.95688	0.8603727	0.92204	0.9443252	0.95688	0.8603727	0.92205	-12.855	0.88757	D	.	.	0.452	0.69411	A	.;.	.;.	4.620023	0.73354	26.0	0.9971063638030232	0.81283	0.95142	0.63592	D	AEFGBI	0.446843	0.50273	N	0.690605609038825	0.79018	6.989674	0.614683858076732	0.76004	6.412114	0.999732947377007	0.42341	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.94	5.94	0.96165	5.885000	0.69480	11.848000	0.97994	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.0:0.0:1.0:0.0	19.116	0.93327	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1136.98	33	chr7	134163425	.	G	T	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=1.44;SOR=0.675	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1151,0,1365	20	0	1	0
chr7	138630077	138630077	G	A	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon6:c.C379T:p.R127W	.	.	431	1089	2	0	0	2	0.000917431	.	.	2441014	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.999	D	0.000	D	0.997	D	2.105	M	0.05	T	-0.373	T	0.385	T	0.859	3.013	16.05	3.57	0.795	1.932	13.905	0.454	0.0618871387448	7.7e-05	0.000399361	6.591e-05	0	0	0	0	7.494e-05	0.0011	0.0001	0.0001035	16	154602	rs149009334	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	5.975e-05	2.236e-05	0	5.04e-05	0	0.0005	0.0002	8.28e-05	0.0003	9.196e-05	9.188e-05	0.0001	8.06e-05	0.0002	5.526e-05	4.363e-05	9.049e-05	7.013e-05	0	0	6.541e-05	0	0.0002	0	0	0.0002	0	0.0002	0.121	0.27783	T	0.125	0.43344	T	1.0	0.90584	D	0.992	0.92359	D	0.000002	0.62929	D	0.098369	0.997153	0.43670	D	2.8	0.81625	M	0.05	0.61923	T	-5.11	0.84457	D	0.801	0.81162	-0.3734	0.72857	T	0.385	0.74099	T	10	0.6363182	0.68802	D	0.061887	0.68475	D	0.454	0.75347	.	.	0.52851136469	0.52499	0.9151432436839908	0.91489	0.245332560828	0.27063	0.588881611824	0.51336	T	0.361785	0.72781	T	0.0235253	0.54855	T	0.0922083	0.76392	D	0.917529881000519	0.57540	D	0.949805	0.80758	D	0.38145834	0.59421	0.3419955	0.59932	0.38145834	0.59422	0.3419955	0.59931	-8.097	0.61730	D	.	.	0.340	0.55896	B	.;.;.;.	.;.;.;.	4.816265	0.78400	26.9	0.9982547677539011	0.90764	0.83959	0.43048	D	AEFGBHI	0.556145	0.56630	D	0.442735812739823	0.63792	4.619888	0.386706598515183	0.60745	4.265583	0.993112152133167	0.33090	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.43	3.57	0.40014	1.957000	0.40017	1.993000	0.30087	0.671000	0.69459	1.000000	0.71638	0.987000	0.30940	0.991000	0.66497	0.0:0.0:0.5394:0.4606	13.905	0.63330	908	0.22609	.;Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	866.98	44	chr7	138630077	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=821;ExcessHet=0.0000;FS=6.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.914;SOR=0.668	GT:AD:DP:GQ:PL	0/1:54,40:94:99:881,0,1115	20	0	1	0
chr7	141662700	141662700	C	G	exonic	DENND11	.	nonsynonymous SNV	DENND11:NM_001080392:exon9:c.G1324C:p.G442R,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.687	P	0.000	D	1.000	D	1.935	M	.	.	-0.351	T	0.335	T	0.898	4.236	22.0	5.41	2.522	5.457	19.181	0.730	0.00684999826857	0.0005	0.000599042	0.0012	0.0002	0.0015	0	0.0006	0.0017	0	6.759e-05	0.0011061	171	154602	rs200809072	0.0011	0.0011	0.0012	0.0010	0.0013	0.0010	0.0010	0.0013	0.0012	0.0002	0.0006	3.849e-05	0	0.0003	0.0012	0.0013	0.0010	0.0001	0.0010	0.0010	0.0009	0.0010	0.0020	0.0008	0.0008	0.0014	0.0012	9.626e-05	0	0.0020	0	0	0.0003	0.0034	0.0015	0.0005	0.0002	0.018	0.50676	D	0.005	0.72224	D	.	.	.	.	.	.	0.000012	0.62929	D	0.113394	0.999999	0.58761	D	.	.	.	.	.	.	-1.95	0.47514	N	0.777	0.77413	-0.3513	0.73515	T	0.335	0.70182	T	9	0.19898704	0.35890	T	0.00685	0.18121	T	0.730	0.90545	.	.	0.578650849052	0.57535	0.8491532727978855	0.84877	1.05403310488	0.76262	0.838059425354	0.87798	D	.	.	.	0.0657333	0.60326	T	0.326772	0.89373	D	0.157409325242043	0.17678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.80040	P	.;.	.;.	4.762696	0.77023	26.6	0.99913661080419702	0.98238	0.92155	0.55067	D	AEFDBCI	0.734537	0.68064	D	0.642597860431752	0.75890	6.386702	0.656734980551671	0.79111	7.014251	0.999999999996898	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.41	5.41	0.78313	5.531000	0.66860	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.181	0.93609	674	0.60593	.;Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1122.98	37	chr7	141662700	.	C	G	1122.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.217e+00;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-3.580e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1137,0,1229	20	0	1	0
chr7	142863990	142863990	G	A	exonic	EPHB6	.	nonsynonymous SNV	EPHB6:NM_004445:exon7:c.G190A:p.D64N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.828	P	0.208	B	0.005	N	1.000	D	0.64	N	3.87	T	-0.796	T	0.009	T	0.077	3.992	20.4	4.38	2.548	5.697	14.202	0.123	0.0179069598053	.	.	3.319e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs752294317	2.189e-05	2.189e-05	1.906e-05	2.475e-05	0.0001	1.584e-05	1.356e-05	6.246e-05	4.757e-05	0	0	0	0	0	0	1.799e-05	3.311e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.039	0.42487	D	0.062	0.45318	T	.	.	.	.	.	.	0.005394	0.32840	N	0.139515	0.999999	0.81001	D	.	.	.	3.87	0.03597	T	-2.56	0.55339	D	0.147	0.15046	-0.7962	0.55368	T	0.009	0.03315	T	10	0.24739802	0.42020	T	0.017907	0.39789	T	.	.	0.624	0.75916	0.727204820656	0.72478	0.686426921402895	0.68582	.	.	0.611348867416	0.54507	T	0.013906	0.11938	T	-0.450919	0.01116	T	-0.625812	0.10735	T	0.242211729288101	0.22521	T	0.859714	0.55187	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40602	B	.;.	.;.	4.285285	0.65313	24.8	0.99866240266743844	0.94457	0.97559	0.75543	D	AEFDBI	0.803012	0.72827	D	0.300076683218055	0.56153	3.779659	0.410549730823619	0.62220	4.433975	0.999993145651864	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.579976	0.35079	0	.	.	5.45	4.38	0.52019	5.804000	0.68800	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0853:0.0:0.9147:0.0	14.202	0.65254	720	0.55521	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1335.98	37	chr7	142863990	.	G	A	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.772;DP=1277;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-2.900e-01;SOR=0.778	GT:AD:DP:GQ:PL	0/1:35,55:90:99:1350,0,662	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,77,4,0:81:87:3372,233,0,3220,87,3419,3390,250,3338,3483	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,77,4,0:81:87:3372,233,0,3220,87,3419,3390,250,3338,3483	0	16	2	0
chr7	143398373	143398373	C	T	exonic	EPHA1	.	nonsynonymous SNV	EPHA1:NM_005232:exon7:c.G1412A:p.R471Q,	.	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.015	B	0.008	B	0.228	N	1.000	N	-0.135	N	0.4	T	-1.049	T	0.068	T	0.113	0.097	4.524	3.07	1.164	1.707	7.659	0.038	.	0.0020	0.00259585	0.0029	0.0003	0.0005	0	0.0002	0.0022	0.0011	0.0122	0.0028266	437	154602	rs143535859	0.0027	0.0027	0.0023	0.0031	0.0116	0.0026	0.0026	0.0110	0.0108	0.0003	0.0010	7.652e-05	7.557e-05	1.872e-05	0.0099	0.0024	0.0025	0.0116	0.0018	0.0018	0.0016	0.0019	0.0124	0.0016	0.0015	0.0099	0.0090	0.0004	0	0.0007	0	0	0	0.0136	0.0026	0.0005	0.0124	0.595	0.05720	T	0.797	0.04104	T	0.015	0.17086	B	0.008	0.13708	B	0.228235	0.15980	N	0.562825	0.999999	0.08975	N	-0.51	0.02586	N	0.4	0.57261	T	0.39	0.03521	N	0.154	0.15888	-1.0489	0.14705	T	0.068	0.27845	T	10	0.004873246	0.00104	T	.	.	.	0.038	0.09825	.	.	0.324161360171	0.32030	0.3482857113977316	0.34742	0.163144533903	0.18410	0.267599970102	0.05830	T	0.110907	0.42597	T	-0.557582	0.00262	T	-0.564309	0.15975	T	0.0108359602405479	0.00154	T	.	.	.	0.04821828	0.08370	0.040039677	0.04236	0.04821828	0.08369	0.040039677	0.04236	-4.223	0.27083	T	.	.	0.063	0.01491	B	.	.	2.164478	0.27577	17.51	0.7814562810436716	0.12174	0.24837	0.22516	N	AEFDBCI	0.077329	0.15576	N	-0.776125819730992	0.13934	0.6901381	-0.696361390555974	0.17051	0.9049153	0.999725218714266	0.42220	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.98	3.07	0.34476	0.512000	0.22461	1.726000	0.28294	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.078000	0.17132	0.0:0.7847:0.0:0.2152	7.659	0.27561	819	0.41190	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	0.04762	2755.11	34	chr7	143398373	.	C	T	2755.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=980;ExcessHet=0.1072;FS=1.660;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.021;SOR=0.577	GT:AD:DP:GQ:PL	0/1:48,29:77:99:661,0,1108	19	0	2	0
chr7	144371322	144371322	G	T	splicing	ARHGEF5	NM_005435:exon6:c.3692+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.853	15.50	4.97	2.479	8.842	16.064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353095126	9.292e-06	2.465e-05	8.557e-06	1.003e-05	0.0002	5.19e-06	4e-06	0.0001	7.379e-05	0	0	0	0.0002	0	0	4.723e-06	0	0	7.25e-06	3.309e-05	0	1.499e-05	1.578e-05	0	0	.	.	0	0	0	0	0	0	0	1.578e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309827	0.83734	D	0.207268	0.83523	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.569089	0.92204	32	0.99480854601628144	0.66850	0.99777	0.99392	D	AEFI	.	.	.	1.08894240060588	0.97924	17.04228	0.902735623289106	0.95690	13.86934	0.997347327996303	0.35520	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.057018	0.00518	0	0.972085	0.74386	4.97	4.97	0.65419	9.602000	0.97623	11.865000	0.98423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	16.064	0.80667	949	0.11373	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	42.98	37	chr7	144371322	.	G	T	42.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.86;MQRankSum=0.498;QD=1.26;ReadPosRankSum=-8.520e-01;SOR=0.039	GT:AD:DP:GQ:PL	0/1:29,5:34:57:57,0,791	20	0	1	0
chr7	151024396	151024396	-	C	exonic	ATG9B	.	frameshift insertion	ATG9B:NM_001317056:exon1:c.27dupG:p.R10Efs*139,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	.	0.0024	0.0012	0	0.0025	0	0.0028	0	0.0097	0.0001153	3	26028	rs766474019	0.0009	0.0011	0.0008	0.0010	0.0017	0.0009	0.0008	0.0014	0.0013	0.0006	0.0003	0.0123	0.0002	0.0003	0.0003	0.0007	0.0012	0.0017	0.0008	0.0008	0.0008	0.0008	0.0026	0.0007	0.0006	0.0015	0.0012	0.0005	0	0.0003	0.0125	0.0006	0	0	0.0005	0.0019	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1079.94	49	chr7	151024396	.	T	TC	1079.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.801;DP=1067;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=0.133;SOR=0.619	GT:AD:DP:GQ:PL	0/1:70,49:127:99:1094,0,1771	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:191,149:340:99:2817,0,5844	4	0	17	0
chr7	156684161	156684161	G	A	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350954:exon15:c.C949T:p.L317F	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1501567	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.655	P	0.000	D	1.000	N	1.955	M	1.19	T	-0.830	T	0.165	T	0.615	3.306	17.11	5.09	2.358	4.092	7.000	0.123	0.0118915031738	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444445309	1.095e-05	1.163e-05	1.362e-05	8.255e-06	0.0002	6.48e-06	5.25e-06	5.31e-06	3.88e-06	0	0	0	0	0	0.0002	9.9e-06	6.628e-05	0	6.576e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.116	0.72154	T	0.022	0.57587	D	0.986	0.61523	D	0.655	0.52639	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	0.82	0.48460	T	-0.66	0.45042	N	0.59	0.80083	-0.8299	0.53308	T	0.165	0.50340	T	10	0.3414306	0.53324	T	0.011892	0.29959	T	0.123	0.34020	0.422	0.46529	0.717107461095	0.71462	0.45860034565847346	0.45778	0.533384031208	0.50776	0.700018525124	0.67146	T	0.187829	0.54155	T	-0.00663905	0.50736	T	-0.247313	0.50082	T	0.969504415988922	0.68613	D	0.950605	0.81072	D	0.08893416	0.20763	0.11872298	0.28657	0.08893416	0.20763	0.11872298	0.28656	-6.053	0.46720	T	0.15289125767676198	0.18145	0.134	0.29172	B	.;.;.	.;.;.	4.544327	0.71454	25.7	0.99798671825867225	0.88372	0.92221	0.55216	D	AEFBI	0.509966	0.53921	D	0.383908934280825	0.60551	4.245117	0.445707397034283	0.64440	4.699457	0.985022730521471	0.30815	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	4.137000	0.57773	11.459000	0.92821	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2179:0.0:0.7821:0.0	7.000	0.23982	939	0.14249	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	717.98	40	chr7	156684161	.	G	A	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.55;ReadPosRankSum=-6.310e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/1:49,35:84:99:732,0,1156	20	0	1	0
chr7	158879986	158879986	C	T	exonic	DYNC2I1	.	nonsynonymous SNV	DYNC2I1:NM_001350915:exon5:c.C359T:p.P120L,	.	.	432	1079	9	2	0	13	0.00598802	.	.	692196	Short-rib_thoracic_dysplasia_8_with_or_without_polydactyly	MONDO:MONDO:0014214,MedGen:C3809691,OMIM:615503,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	9.235e-05	0	0.0015	0.000207	32	154602	rs757328480	0.0001	0.0001	7.202e-05	0.0001	0.0012	9.64e-05	9.112e-05	0.0010	0.0009	0	0.0001	0.0008	0	0	0.0004	1.812e-05	0.0003	0.0012	4.602e-05	4.598e-05	2.571e-05	6.727e-05	0.0004	2.11e-05	1.527e-05	7.31e-05	3.036e-05	2.414e-05	0	0	0.0009	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	629.98	45	chr7	158879986	.	C	T	629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=-1.765e+00;SOR=0.784	GT:AD:DP:GQ:PL	0/1:38,27:65:99:644,0,887	20	0	1	0
chr8	8376662	8376662	T	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.A1747T:p.I583F	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.092	B	0.017	B	0.004	N	1.000	N	1.1	L	0.45	T	-1.014	T	0.074	T	0.081	1.974	12.56	-9.63	-1.844	-3.969	7.895	0.054	0.00288425215175	0.0002	0.00119808	0.0004	0.0001	0.0008	0	0.0002	0.0005	0	6.896e-05	0.0003558	55	154602	rs199715689	0.0003	0.0003	0.0003	0.0003	0.0148	0.0003	0.0003	0.0122	0.0113	0.0001	0.0011	0.0008	0	0.0003	0.0148	0.0002	0.0009	0.0001	0.0006	0.0006	0.0006	0.0006	0.0036	0.0005	0.0004	0.0028	0.0026	2.407e-05	0	0.0036	0.0006	0	0.0002	0.0238	0.0002	0.0024	0	.	.	.	0.219	0.25987	T	.	.	.	.	.	.	0.004104	0.01005	N	3.036110	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.129	0.12913	-1.0143	0.25561	T	0.074	0.29897	T	10	0.0061863363	0.00139	T	0.002884	0.06074	T	.	.	.	.	0.0297737177859	0.01360	0.08798614127158923	0.08731	.	.	0.327813446522	0.14604	T	0.017365	0.14179	T	-0.54467	0.00314	T	-0.666123	0.07859	T	0.0101471628432536	0.00137	T	0.324967	0.06659	T	0.08075437	0.18520	0.05260405	0.08700	0.08075437	0.18520	0.05260405	0.08700	-2.493	0.05734	T	.	.	0.089	0.11989	B	.;.	.;.	-1.657511	0.00213	0.003	0.58609239982661432	0.06032	0.10179	0.15756	N	AEFDBHCI	0.100700	0.20242	N	-1.39363087756731	0.02697	0.119468	-1.56685339831651	0.01862	0.08488616	0.999999999945143	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	4.82	-9.63	0.00456	-4.430000	0.00270	-5.041000	0.01874	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0885:0.2829:0.5297:0.0989	7.895	0.28862	925	0.17918	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1160.98	79	chr8	8376662	.	T	A	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.902;DP=1554;ExcessHet=0.0000;FS=0.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.062;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1175,0,914	20	0	1	0
chr8	8377545	8377545	G	C	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.C864G:p.C288W	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.866	P	0.124	N	1.000	D	0.895	L	0.23	T	-0.773	T	0.131	T	0.448	2.144	13.13	4.56	1.433	0.316	11.960	0.270	.	0.0054	0.00579073	0.0022	0.0220	0.0015	0	0.0002	0.0005	0	0.0002	0.0019469	301	154602	rs11988457	0.0008	0.0008	0.0010	0.0007	0.0189	0.0008	0.0008	0.0177	0.0172	0.0189	0.0022	0.0008	0	0.0003	0.0153	0.0002	0.0023	0.0002	0.0060	0.0060	0.0061	0.0059	0.0192	0.0057	0.0056	0.0181	0.0176	0.0192	0	0.0052	0.0006	0	0.0002	0.0238	0.0003	0.0047	0	.	.	.	0.017	0.60337	D	0.995	0.67487	D	0.866	0.61580	P	0.123721	0.18908	N	0.469935	0.999821	0.49512	D	.	.	.	.	.	.	.	.	.	0.569	0.59223	-0.7729	0.56698	T	0.131	0.44228	T	10	0.007582903	0.00172	T	.	.	.	.	.	.	.	0.27479166964	0.27093	0.1795433734291691	0.17873	.	.	0.328255057335	0.14671	T	0.085355	0.37482	T	-0.378741	0.03173	T	-0.301216	0.44596	T	0.0137704659004195	0.00259	T	0.59544	0.22079	T	0.11954502	0.28146	0.1320243	0.31691	0.11954502	0.28146	0.1320243	0.31690	-4.603	0.32209	T	.	.	0.192	0.41078	B	.;.	.;.	1.979992	0.25155	16.66	0.99057821608252516	0.51413	0.47395	0.27973	N	AEFDBHCI	0.274297	0.38951	N	-0.119396313935642	0.36549	2.114085	-0.187402738312455	0.31998	1.816229	0.999999888212797	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	4.56	0.55644	0.781000	0.26435	3.670000	0.39434	-0.114000	0.14653	0.173000	0.23973	1.000000	0.68203	0.031000	0.13245	0.0804:0.0:0.9196:0.0	11.960	0.52293	929	0.16858	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1276.98	39	chr8	8377545	.	G	C	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.089e+00;DP=1055;ExcessHet=0.0000;FS=5.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.620;SOR=0.562	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1291,0,1302	20	0	1	0
chr8	9011616	9011616	A	G	exonic	ERI1	.	nonsynonymous SNV	ERI1:NM_001354635:exon3:c.A128G:p.N43S	.	.	427	1091	3	1	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.898	N	1.000	N	-0.975	N	1.0	T	-0.995	T	0.025	T	0.014	0.711	7.789	-5.81	-1.072	-3.363	5.932	0.031	0.00324236033517	0.0035	0.00119808	0.0037	0.0012	0.0024	0	0.0024	0.0057	0.0011	0.0004	0.0039974	618	154602	rs138826421	0.0054	0.0054	0.0056	0.0053	0.0066	0.0053	0.0053	0.0065	0.0064	0.0008	0.0025	0.0018	7.564e-05	0.0019	0.0007	0.0066	0.0036	0.0006	0.0036	0.0036	0.0036	0.0035	0.0059	0.0033	0.0032	0.0054	0.0052	0.0011	0	0.0039	0.0023	0	0.0022	0	0.0059	0.0033	0	0.707	0.04081	T	0.842	0.03589	T	0.0	0.02946	B	0.0	0.01387	B	0.898435	0.08638	N	0.961988	1	0.08975	N	-1.01	0.01154	N	1.0	0.41392	T	-0.21	0.10308	N	0.038	0.01203	-0.9947	0.31379	T	0.025	0.10777	T	10	0.0024873018	0.00037	T	0.003242	0.07147	T	0.031	0.07369	.	.	0.0551355673512	0.04727	0.23812288902091333	0.23726	0.00755920154266	0.00669	0.291251063347	0.09104	T	0.064149	0.32359	T	-0.731445	0.00023	T	-0.813058	0.01597	T	0.00279867897658616	0.00029	T	0.465053	0.13602	T	0.06421049	0.13600	0.030268077	0.01462	0.05767302	0.11508	0.035051458	0.02684	-2.867	0.08818	T	.	.	0.055	0.00444	B	.;.;.	.;.;.	-2.649391	0.00022	0.001	0.54543769506255324	0.05159	0.10515	0.16001	N	AEBCI	0.112116	0.22174	N	-1.70589463079473	0.00821	0.03549927	-1.63706791353157	0.01444	0.06531839	0.999992110238084	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.79	-5.81	0.02148	-3.302000	0.00576	-5.283000	0.01777	-0.648000	0.04400	0.000000	0.06391	0.000000	0.08366	0.728000	0.35033	0.318:0.0978:0.4798:0.1044	5.932	0.18380	875	0.30485	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1129.98	34	chr8	9011616	.	A	G	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.151e+00;DP=834;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.11;ReadPosRankSum=0.619;SOR=0.819	GT:AD:DP:GQ:PL	0/1:71,53:124:99:1144,0,1793	20	0	1	0
chr8	10622865	10622865	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C337T:p.P113S,	Occult macular dystrophy, Autosomal dominant	.	1	1498	23	0	0	23	0.00761842	.	.	303921	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.073	B	0.045	B	.	.	1.000	N	-0.205	N	-2.17	D	-0.820	T	0.286	T	0.127	0.292	5.580	-3.47	-0.664	-0.189	3.123	0.144	.	0.0002	0.00399361	0.0026	0.0001	0.0005	0	0	0.0004	0.0081	0.0157	0.0021863	338	154602	rs201245739	0.0012	0.0012	0.0007	0.0017	0.0163	0.0011	0.0011	0.0156	0.0153	5.977e-05	0.0001	0.0011	2.52e-05	0	0.0042	0.0002	0.0013	0.0163	0.0007	0.0007	0.0006	0.0008	0.0145	0.0006	0.0006	0.0118	0.0108	7.22e-05	0	0.0005	0.0014	0	0	0	0.0003	0.0019	0.0145	0.143	0.25355	T	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	-2.17	0.86624	D	-2.1	0.47852	N	0.183	0.19861	-0.8200	0.53933	T	0.286	0.65744	T	9	0.00442034	0.00090	T	.	.	.	0.144	0.38394	.	.	0.254244900254	0.25046	0.18994679781171653	0.18912	.	.	0.310086578131	0.11920	T	0.136786	0.46936	T	-0.470472	0.00844	T	-0.435603	0.29302	T	0.0063750555654631	0.00071	T	0.624238	0.24084	T	0.03854926	0.05157	0.071921706	0.15456	0.03854926	0.05156	0.071921706	0.15456	-3.485	0.16223	T	0.14979248067906134	0.17545	0.091	0.12891	B	.	.	0.676226	0.10444	7.166	0.49772977628815207	0.04268	0.05439	0.11314	N	AEFDBI	0.081127	0.16412	N	-1.17843439872053	0.05326	0.2425605	-1.22491323184172	0.05512	0.262831	0.0171898468307943	0.12922	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.74	-3.47	0.04452	-0.236000	0.09019	1.009000	0.23318	0.674000	0.70861	0.000000	0.06391	0.097000	0.22620	0.104000	0.18471	0.4664:0.103:0.3164:0.1143	3.123	0.06012	778	0.48011	Doublecortin 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	0.07143	3412.68	38	chr8	10622865	.	G	A	3412.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.94;DP=910;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-2.280e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1485,0,1479	18	0	3	0
chr8	27289271	27289271	G	A	exonic	TRIM35	.	nonsynonymous SNV	TRIM35:NM_001304495:exon3:c.C676T:p.H226Y	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.013	B	0.003	B	.	.	1.000	N	.	.	-0.13	T	-0.943	T	0.165	T	.	2.270	13.55	5.07	1.517	1.711	10.984	0.040	0.0197493238184	0.0005	0.000798722	0.0001	0.0012	8.676e-05	0	0	6.007e-05	0	0	0.0001682	26	154602	rs112470372	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	9.569e-05	0.0018	0.0016	0.0022	8.946e-05	0	0	0	0.0007	6.476e-05	0.0003	0	0.0007	0.0007	0.0007	0.0006	0.0021	0.0006	0.0005	0.0017	0.0016	0.0021	0	0.0004	0	0	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.021	0.58089	D	0.013	0.16609	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	.	.	.	-0.13	0.64818	T	0.43	0.03297	N	0.32	0.36043	-0.9432	0.42105	T	0.165	0.50340	T	8	0.01551643	0.00326	T	0.019749	0.42191	T	0.040	0.10527	.	.	0.661975707287	0.65914	.	.	.	.	.	.	.	0.007717	0.07108	T	-0.215641	0.18591	T	-0.088387	0.64283	T	0.211772441864014	0.21046	T	0.352165	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24733	B	.	.	0.680609	0.10493	7.206	0.98198645318278277	0.39097	0.92481	0.55812	D	AEFDBI	0.034371	0.04245	N	-0.104113181267482	0.37213	2.161838	0.0632015068175121	0.42715	2.588455	0.997167364875065	0.35335	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.07	0.68106	1.130000	0.31007	0.899000	0.22534	-0.113000	0.14837	1.000000	0.71638	0.999000	0.35428	0.481000	0.28588	0.0856:0.0:0.9144:0.0	10.984	0.46727	626	0.65439	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	37	chr8	27289271	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.600e-01;DP=795;ExcessHet=0.0000;FS=2.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-2.600e-01;SOR=0.448	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1140,0,885	20	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:64,24:88:36:36,0,1140	12	0	9	0
chr8	37965457	37965457	T	C	exonic	ADRB3	.	nonsynonymous SNV	ADRB3:NM_000025:exon1:c.A1013G:p.N338S,	.	.	.	.	.	.	.	.	.	.	.	1037865	not_specified|not_provided|Obesity	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.895	M	0.89	T	-0.518	T	0.273	T	0.353	2.833	15.44	3.51	0.840	7.788	10.069	0.540	0.157660309876	.	.	0.0001	0	0	0	0	0.0003	0	0	3.88e-05	6	154602	rs200277866	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0025	0	0	0.0005	0.0002	0.0004	2.524e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.158e-05	7.711e-05	9.054e-05	7.016e-05	0	0	0.0001	0.0023	0	0	0	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999962	0.52935	D	2.835	0.82492	M	0.89	0.45636	T	-4.83	0.80943	D	0.811	0.80669	-0.5176	0.68004	T	0.273	0.64474	T	10	0.18465862	0.33851	T	0.15766	0.83820	D	0.540	0.80782	.	.	0.886752254221	0.88563	0.7841723744620793	0.78368	1.74758098799	0.90959	0.651255011559	0.60164	T	0.329668	0.69995	T	-0.232131	0.16367	T	-0.281074	0.46695	T	0.393826553880693	0.28710	T	0.983302	0.94339	D	0.8902035	0.90525	0.8625271	0.92352	0.8902035	0.90526	0.8625271	0.92352	-8.355	0.63465	D	.	.	0.634	0.70276	P	.;.	.;.	4.743851	0.76536	26.5	0.99420556734893883	0.63742	0.97333	0.74089	D	AEFDBCI	0.913854	0.87641	D	0.415743525701794	0.62287	4.442172	0.295100828402966	0.55252	3.688486	0.999999685199411	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.66	3.51	0.39297	7.938000	0.87136	6.075000	0.53293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.0795:0.0:0.9205	10.069	0.41497	593	0.68665	.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1249.98	40	chr8	37965457	.	T	C	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.190e-01;DP=907;ExcessHet=0.0000;FS=2.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.719;SOR=0.980	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1264,0,1452	20	0	1	0
chr8	37966018	37966018	T	C	exonic	ADRB3	.	nonsynonymous SNV	ADRB3:NM_000025:exon1:c.A452G:p.K151R,	.	.	.	.	.	.	.	.	.	.	.	1037866	not_specified|not_provided|Obesity	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.924	P	0.823	P	0.000	D	1.000	D	0.38	N	-0.7	T	-0.554	T	0.285	T	0.704	3.556	18.13	4.36	1.956	6.007	13.659	0.514	0.0992408523405	.	.	0.0003	0	0	0	0	0.0006	0	0	0.0001164	18	154602	rs200133226	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0025	0	0	0.0005	0.0002	0.0004	2.444e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.153e-05	7.708e-05	9.049e-05	7.013e-05	0	0	0.0001	0.0023	0	0	0	0.0002	0	0	0.211	0.19569	T	0.229	0.25210	T	0.924	0.51285	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	0.795	0.19620	N	-0.7	0.72785	T	-1.81	0.42575	N	0.167	0.17691	-0.5542	0.66626	T	0.285	0.65715	T	10	0.079853445	0.12895	T	0.099241	0.77075	D	0.514	0.79217	.	.	0.886555134172	0.88543	0.4563522655954418	0.45553	1.77228400373	0.91296	0.602806508541	0.53301	T	0.143419	0.47952	T	-0.0733123	0.40796	T	-0.058371	0.66446	T	0.360432922840118	0.27426	T	0.70223	0.31206	T	0.4981541	0.66987	0.52182186	0.72373	0.4981541	0.66988	0.52182186	0.72374	-2.136	0.03741	T	.	.	0.081	0.08224	B	.	.	3.473046	0.48458	22.6	0.99724996316051195	0.82336	0.95513	0.65020	D	AEFDBHCI	0.870388	0.79134	D	0.232455310624492	0.52776	3.449861	0.249317681600213	0.52612	3.434781	0.999999999922769	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.36	4.36	0.51643	4.174000	0.58050	3.361000	0.37860	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.0:1.0	13.659	0.61829	589	0.68969	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1205.98	40	chr8	37966018	.	T	C	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=914;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.771;SOR=0.542	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1220,0,1414	20	0	1	0
chr8	64581466	64581466	-	GCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.676_677insGCA:p.S234_K235insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/2:120,0,15:135:99:253,615,5498,0,4883,4837	14	1	5	0
chr8	64581464	64581466	GCA	-	exonic	BHLHE22	.	nonframeshift deletion	BHLHE22:NM_152414:exon1:c.674_676del:p.S234del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196	.	0.0185	0.0275	0.0401	0.0357	0.0021	0.0202	0.0070	0.0168	0.0001537	4	26028	rs779312881	0.0007	0.0059	0.0007	0.0008	0.0023	0.0007	0.0007	0.0020	0.0019	0.0014	0.0011	0.0004	0.0014	0.0013	0.0010	0.0005	0.0008	0.0023	0.0005	0.0006	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0005	0.0004	0	0.0011	0	0	0.0006	0.0040	0.0004	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/2:120,0,15:135:99:253,615,5498,0,4883,4837	14	1	5	0
chr8	70148392	70148392	G	C	exonic	NCOA2	.	nonsynonymous SNV	NCOA2:NM_001321713:exon11:c.C2024G:p.A675G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.002	B	0.002	B	0.000	D	1.000	D	0.345	N	4.77	T	-0.789	T	0.004	T	0.236	0.854	8.456	4.74	1.557	3.372	7.666	0.115	0.00414627126838	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.519	0.07283	T	0.459	0.12632	T	0.002	0.09854	B	0.002	0.06944	B	0.000161	0.48594	D	0.216153	0.875697	0.28134	N	0.38	0.12130	N	4.77	0.01563	T	0.38	0.03579	N	0.197	0.21710	-0.7891	0.55782	T	0.004	0.01295	T	10	0.060965538	0.07571	T	0.004146	0.09931	T	0.115	0.32236	0.15	0.05339	0.158540857583	0.15491	0.15747807245067924	0.15668	0.124540925557	0.14028	0.460689425468	0.33405	T	0.042469	0.26194	T	-0.225483	0.17250	T	-0.561667	0.16220	T	0.667978823184967	0.39247	D	0.824718	0.48674	T	0.13418041	0.31184	0.036668926	0.03161	0.13418041	0.31184	0.036668926	0.03160	-2.847	0.08624	T	.	.	0.092	0.13550	B	.	.	3.292443	0.45157	22.1	0.92122298984014095	0.21477	0.89646	0.50244	D	ALL	.	.	.	-0.26262374063078	0.30603	1.70791	-0.0381717452733541	0.38006	2.233125	1.0	0.98316	0.839682	0.99964	0	0.696144	0.67643	0	0.736553	0.94036	0	0.629945	0.49285	0	.	.	5.64	4.74	0.59717	3.448000	0.52706	6.751000	0.56511	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1505:0.1335:0.716:0.0	7.666	0.27598	928	0.17405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	802.98	35	chr8	70148392	.	G	C	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.431e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-2.010e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,39:87:99:817,0,1171	20	0	1	0
chr8	100529590	100529590	G	C	exonic	ANKRD46	.	nonsynonymous SNV	ANKRD46:NM_001270377:exon3:c.C244G:p.L82V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.982	D	0.000	D	1.000	D	2.535	M	0.73	T	0.478	D	0.674	D	0.826	4.417	23.4	4.9	1.456	6.279	14.563	0.596	0.150005866971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0015	0.0001	0.0001	0.0002	9.864e-05	9.277e-05	0.0001	0.0001	0.0002	2.237e-05	7.67e-05	2.521e-05	0	0	0.0001	0.0001	4.648e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.70582	D	0.979	0.59044	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-0.42	0.81559	T	-2.73	0.59226	D	0.725	0.78737	0.478	0.90229	D	0.674	0.88703	D	10	0.8767001	0.87427	D	0.150006	0.83175	D	0.596	0.83965	0.755	0.88484	0.890307275418	0.88922	0.8234338829086948	0.82300	1.55775025529	0.88002	0.872135579586	0.92873	D	0.101322	0.44326	T	0.308324	0.83617	D	0.205109	0.83403	D	0.974698483943939	0.70616	D	0.974603	0.93166	D	0.66677815	0.76261	0.63095033	0.78471	0.66677815	0.76262	0.63095033	0.78472	-7.09	0.54688	T	.	.	0.739	0.74650	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.979340	0.58488	24.0	0.99868500657537906	0.94637	0.91448	0.53554	D	AEFDGBCIJ	0.756888	0.69601	D	0.711921816677299	0.80415	7.288927	0.679696694225148	0.80838	7.389038	0.999999999994741	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	4.9	0.63643	6.387000	0.73118	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0697:0.0:0.9303:0.0	14.563	0.67745	254	0.90023	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	57.73	60	chr8	100529590	.	G	C	57.73	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.680e+00;DP=1369;ExcessHet=0.0000;FS=401.173;InbreedingCoeff=-0.0506;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=1.42;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,36:106:71:.:.:71,0,1232	18	0	1	2
chr8	102560798	102560798	C	0	exonic	ODF1	.	.	.	.	.	436	601	16	0	469	485	0.0131363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2579.11	37	chr8	102560798	.	C	A,*	2579.11	.	AC=2,8;AF=0.053,0.211;AN=38;BaseQRankSum=0.124;DP=2095;ExcessHet=6.5132;FS=3.341;InbreedingCoeff=-0.2972;MLEAC=2,9;MLEAF=0.053,0.237;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=-3.220e-01;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,35,0:92:99:0|1:102560764_C_G:684,0,1324,854,1429,2283:102560764	9	0	2	2
chr8	109389107	109389107	G	T	exonic	PKHD1L1	.	stopgain	PKHD1L1:NM_177531:exon8:c.G652T:p.G218X,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	0.138	N	1.000	A	.	.	.	.	.	.	.	.	.	3.194	16.69	2.18	0.636	2.247	5.731	.	.	.	0.00119808	0.0009	0	0	0	0	4.497e-05	0	0.0062	0.0007374	114	154602	rs574569681	0.0003	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0049	0	0	0	0	0	0.0007	2.073e-05	0.0002	0.0054	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	2.409e-05	0	0	0	0	0	0	5.883e-05	0	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.138045	0.18391	N	0.527164	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.277	0.31365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179258	0.71974	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.672273	0.96750	36	0.98528643686560979	0.42558	0.71689	0.35122	D	AEFBI	0.082631	0.16733	N	0.489436519222419	0.66469	4.954477	0.226895559879209	0.51344	3.317855	0.873602258201884	0.25469	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	2.18	0.26813	1.155000	0.31311	4.436000	0.43368	0.676000	0.76740	0.866000	0.30720	1.000000	0.68203	0.955000	0.50612	0.4578:0.0:0.5422:0.0	5.731	0.17309	706	0.57215	IPT domain|IPT 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	0.02381	1209.98	33	chr8	109389107	.	G	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=-1.229e+00;QD=8.96;ReadPosRankSum=0.473;SOR=0.660	GT:AD:DP:GQ:PL	0/1:82,53:135:99:1224,0,1997	20	0	1	0
chr8	109553899	109553899	A	G	exonic	EBAG9	.	nonsynonymous SNV	EBAG9:NM_001278938:exon3:c.A118G:p.I40V	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.991	D	0.978	D	0.000	D	1.000	D	1.7	L	.	.	-0.679	T	0.266	T	0.474	2.990	15.97	4.41	1.050	8.532	11.030	0.203	0.00246852734255	.	.	8.264e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs748399467	6.86e-06	8.209e-06	5.459e-06	8.277e-06	0.0002	3.47e-06	2.53e-06	1.602e-05	9.43e-06	0	0	0	0	1.874e-05	0.0002	3.601e-06	0	4.721e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.91255	T	0.062	0.92824	T	0.991	0.64070	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	2.295	0.65404	M	.	.	.	-0.04	0.20145	N	0.427	0.47208	-0.6788	0.61428	T	0.266	0.63759	T	9	0.31623957	0.49047	T	0.002469	0.04896	T	0.203	0.48915	0.308	0.27967	0.463873965229	0.46014	0.36764090033591135	0.36678	0.339029982443	0.35864	0.774830341339	0.78148	T	0.126633	0.45314	T	0.109974	0.65349	D	-0.079807	0.64919	T	0.556054353713989	0.34706	D	0.906609	0.67067	D	0.07515457	0.16913	0.05899763	0.10998	0.07515457	0.16913	0.05899763	0.10998	-2.976	0.10245	T	.	.	0.182	0.53214	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.623924	0.51294	23.1	0.99775519828966852	0.86260	0.99233	0.93193	D	AEBI	0.903315	0.85225	D	0.473148415839061	0.65528	4.833809	0.481385882710976	0.66757	4.993869	0.998313151338382	0.36741	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.57	4.41	0.52588	8.572000	0.90544	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9269:0.0:0.0731:0.0	11.030	0.46984	645	0.63593	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1475.98	33	chr8	109553899	.	A	G	1475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.004e+00;DP=839;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-5.340e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/1:68,69:137:99:1490,0,1546	20	0	1	0
chr8	122953992	122953992	G	A	exonic	ZHX2	.	nonsynonymous SNV	ZHX2:NM_014943:exon3:c.G2482A:p.D828N	.	.	.	.	.	.	.	.	.	.	.	3490327	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.76	P	0.054	B	0.050	N	1.000	N	0.345	N	2.17	T	-1.023	T	0.030	T	0.056	2.326	13.73	6.04	2.873	7.580	18.760	0.162	0.0120078792287	.	.	3.532e-05	0	0.0002	0	0	1.565e-05	0	7.709e-05	2.59e-05	4	154602	rs757024481	3.019e-05	3.078e-05	3.138e-05	2.899e-05	0.0002	2.289e-05	2.038e-05	8.908e-05	6.461e-05	0	0.0002	0	2.522e-05	0.0003	0.0002	4.508e-06	4.983e-05	0.0001	5.913e-05	5.91e-05	5.138e-05	6.725e-05	0.0004	3.077e-05	2.21e-05	7.279e-05	3.025e-05	0	0	0	0	0.0002	0.0003	0	4.409e-05	0	0.0004	0.009	0.57480	D	0.036	0.52060	D	0.76	0.43524	P	0.054	0.25828	B	0.050359	0.23079	N	0.427179	0.999961	0.18878	N	0.695	0.17993	N	2.17	0.19020	T	-0.88	0.23808	N	0.204	0.22614	-1.0232	0.22671	T	0.030	0.12892	T	10	0.115163	0.21689	T	0.012008	0.30193	T	0.162	0.41843	0.153	0.05648	0.368183359018	0.36430	0.14450055253521576	0.14373	0.305324348637	0.32837	0.46616140008	0.34154	T	0.053304	0.29406	T	-0.451143	0.01112	T	-0.616513	0.11461	T	0.0842949376629563	0.10527	T	0.722728	0.33613	T	0.08675309	0.20176	0.08119893	0.18433	0.08675309	0.20176	0.08119893	0.18432	-4.652	0.32818	T	.	.	0.093	0.14155	B	.	.	4.110564	0.61357	24.3	0.99832130686804876	0.91370	0.98743	0.86283	D	AEFDGBI	0.748614	0.69031	D	0.162365638489856	0.49400	3.140737	0.277875906175202	0.54249	3.590576	0.999999879491803	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	6.04	6.04	0.98025	7.696000	0.83499	9.932000	0.82588	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.246000	0.23158	0.0:0.0:1.0:0.0	18.760	0.91809	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	33	chr8	122953992	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.909;DP=862;ExcessHet=0.0000;FS=3.982;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-3.880e-01;SOR=1.130	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1212,0,895	20	0	1	0
chr8	126556792	126556792	T	G	exonic	LRATD2	.	nonsynonymous SNV	LRATD2:NM_174911:exon2:c.A598C:p.N200H,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.989	D	0.000	D	1.000	D	2.485	M	3.73	T	-1.153	T	0.053	T	0.57	3.230	16.83	4.86	1.817	8.036	13.683	0.378	0.0320609631762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.046289	0.999701	0.48408	D	1.955	0.52871	M	3.73	0.03982	T	-4.63	0.79229	D	0.903	0.90363	-1.1526	0.00949	T	0.053	0.22578	T	10	0.8760916	0.86900	D	0.032061	0.53984	D	0.378	0.69612	0.662	0.79996	0.716887018219	0.71440	0.9861756027781464	0.98610	1.83737483121	0.92127	0.808780670166	0.83306	D	0.500939	0.82133	D	-0.0603799	0.42849	T	-0.324508	0.42079	T	0.992413699626923	0.82888	D	0.930207	0.74183	D	0.73101425	0.79781	0.63333565	0.78602	0.73101425	0.79782	0.63333565	0.78603	-12.068	0.85180	D	.	.	0.708	0.73272	P	.	.	5.380585	0.90173	31	0.99357211583352845	0.60862	0.95111	0.63478	D	ALL	0.925633	0.90549	D	0.601240910600146	0.73254	5.936079	0.499101966879308	0.67931	5.150564	1.0	0.98316	0.582742	0.33608	0	0.541168	0.11318	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.86	4.86	0.62624	8.014000	0.88267	7.765000	0.68366	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.0:0.0:0.0:1.0	13.683	0.61977	962	0.08456	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1122.98	34	chr8	126556792	.	T	G	1122.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-02;DP=804;ExcessHet=0.0000;FS=1.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-3.600e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1137,0,1188	20	0	1	0
chr8	133102554	133102554	G	A	exonic	SLA	.	nonsynonymous SNV	SLA:NM_001045557:exon1:c.C10T:p.R4W	.	.	426	1088	7	1	0	9	0.00411899	0	0.024	2828538	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.946	P	0.18	B	.	.	1.000	N	.	.	2.16	T	-0.819	T	0.168	T	0.059	2.806	15.34	-4.28	-0.805	0.025	1.683	0.107	.	0.0046	0.00199681	0.0032	0.0023	0.0024	0	0	0.0039	0.0105	0.0029	0.0013001	201	154602	rs186646388	0.0050	0.0048	0.0050	0.0050	0.0058	0.0049	0.0049	0.0057	0.0057	0.0008	0.0017	0.0014	8.394e-05	0.0026	0.0021	0.0058	0.0037	0.0026	0.0037	0.0037	0.0040	0.0034	0.0062	0.0035	0.0034	0.0057	0.0055	0.0012	0.0219	0.0022	0.0017	0.0004	0.0023	0.0068	0.0062	0.0005	0.0021	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.994535	0.81001	D	.	.	.	-1.34	0.79944	T	-0.19	0.14390	N	0.121	0.16308	-0.8188	0.54009	T	0.168	0.50681	T	8	0.00686118	0.00156	T	.	.	.	0.107	0.30369	.	.	0.102598925029	0.09809	.	.	.	.	.	.	.	.	.	.	-0.501485	0.00561	T	-0.482737	0.24156	T	0.0658339253132563	0.08053	T	0.589941	0.21689	T	.	.	.	.	.	.	.	.	-3.926	0.22693	T	.	.	0.222	0.45285	B	.;.	.;.	0.592077	0.09604	6.379	0.9944515399919327	0.64971	0.05817	0.11756	N	AEFDGBCIJ	0.154220	0.27921	N	-0.829297387980121	0.12565	0.6132792	-1.03678240236627	0.08984	0.4445469	0.999999061036408	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.37	-4.28	0.03475	-0.095000	0.11043	-0.640000	0.08082	-0.748000	0.03609	0.033000	0.20612	0.000000	0.08366	0.064000	0.16252	0.1169:0.2026:0.2748:0.4057	1.683	0.02665	829	0.39537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1340.98	39	chr8	133102554	.	G	A	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.782e+00;DP=845;ExcessHet=0.0000;FS=2.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-2.170e-01;SOR=0.429	GT:AD:DP:GQ:PL	0/1:38,57:95:99:1355,0,796	20	0	1	0
chr8	138660465	138660465	G	C	exonic	COL22A1	.	nonsynonymous SNV	COL22A1:NM_152888:exon44:c.C3256G:p.P1086A,	.	.	426	1071	25	0	0	25	0.0115367	.	.	2828545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.998	D	0.000	U	1.000	D	1.51	L	-3.54	D	0.681	D	0.856	D	0.345	2.603	14.67	4.83	2.677	4.807	13.607	0.523	.	0.0037	0.00199681	0.0040	0.0011	0.0039	0	0.0015	0.0048	0.0132	0.0051	0.0037645	582	154602	rs117256395	0.0044	0.0045	0.0043	0.0045	0.0068	0.0043	0.0043	0.0051	0.0046	0.0009	0.0041	0.0062	0	0.0013	0.0068	0.0047	0.0045	0.0050	0.0030	0.0030	0.0033	0.0027	0.0054	0.0028	0.0027	0.0041	0.0039	0.0011	0	0.0028	0.0058	0	0.0008	0.0102	0.0045	0.0024	0.0054	0.086	0.34095	T	0.042	0.50226	D	0.999	0.77913	D	0.998	0.88582	D	0.000140	0.49741	U	0.000000	0.999557	0.47544	D	1.88	0.49984	L	-3.54	0.96496	D	-1.94	0.55025	N	0.46	0.49874	0.681	0.92939	D	0.856	0.95204	D	10	0.017681658	0.00379	T	.	.	.	0.523	0.79765	.	.	0.517322629239	0.51374	0.12309014687166302	0.12235	0.0815505204476	0.09179	0.416055500507	0.27293	T	0.356027	0.72294	T	-0.18383	0.23168	T	-0.0345005	0.68070	D	0.0200992893160268	0.00711	T	0.946905	0.79612	D	0.0936957	0.22012	0.12426999	0.29956	0.0936957	0.22011	0.12426999	0.29955	-7.489	0.59015	T	.	.	0.070	0.06756	B	.;.	.;.	3.409903	0.47294	22.4	0.98547420195322977	0.42795	0.95421	0.64654	D	AEFI	0.395496	0.47233	N	0.570444082780102	0.71337	5.635337	0.557938033373185	0.71950	5.733772	0.048890417617057	0.14785	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	4.098000	0.57478	8.384000	0.77072	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	13.607	0.61520	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	34	chr8	138660465	.	G	C	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=915;ExcessHet=0.0000;FS=4.338;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-1.472e+00;SOR=0.937	GT:AD:DP:GQ:PL	0/1:45,33:78:99:804,0,1046	20	0	1	0
chr8	139910284	139910284	C	G	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon19:c.G2800C:p.D934H	Mental retardation, autosomal recessive 13, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	313276	not_provided|Intellectual_Disability,_Recessive|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN239290|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.997	D	0.000	D	1.000	D	1.845	L	.	.	-0.513	T	0.350	T	0.849	4.401	23.3	5.62	2.659	5.123	18.649	0.180	0.016237788969	7.7e-05	0.000599042	0.0002	0	0	0.0017	0	0.0002	0	0.0002	0.0002005	31	154602	rs144046998	9.44e-05	9.44e-05	0.0001	8.25e-05	0.0014	8.134e-05	7.65e-05	0.0011	0.0010	0	0	0.0007	0.0014	0	0.0002	2.158e-05	0.0002	0.0003	0.0001	0.0001	8.993e-05	0.0001	0.0019	6.507e-05	5.319e-05	0.0010	0.0008	0	0	0	0.0009	0.0019	0	0	1.47e-05	0	0.0004	0.001	0.78490	D	0.022	0.58089	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.051064	0.999999	0.58761	D	2.25	0.63811	M	.	.	.	-3.68	0.70314	D	0.881	0.88027	-0.5130	0.68176	T	0.350	0.71407	T	9	0.12806788	0.24360	T	0.016238	0.37399	T	0.427	0.73445	.	.	0.478144874143	0.47444	0.3884458762403192	0.38759	0.452047251807	0.44938	0.740373373032	0.73028	T	0.299927	0.67243	T	0.0427237	0.57401	T	0.253215	0.85770	D	0.146305330273442	0.16805	T	0.90041	0.65400	D	0.7603334	0.81473	0.71539515	0.83203	0.7603334	0.81474	0.71539515	0.83204	-7.553	0.58604	D	.	.	0.297	0.52784	B	.;.;.;.	.;.;.;.	5.077105	0.84710	28.4	0.99696640447176721	0.80316	0.97763	0.76955	D	AEFDGI	0.779949	0.71199	D	0.445780825537574	0.63963	4.640723	0.525780389728075	0.69730	5.402327	0.999999999917913	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	5.442000	0.66324	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.649	0.91381	963	0.08280	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1181.98	33	chr8	139910284	.	C	G	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.545;DP=808;ExcessHet=0.0000;FS=3.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=2.36;SOR=0.385	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1196,0,1168	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/2:2,131,13:151:99:5880,422,107,5390,0,5751	0	17	0	0
chr8	143929461	143929461	-	CAGCGG	exonic	PLEC	.	nonframeshift insertion	PLEC:NM_201378:exon24:c.2991_2992insCCGCTG:p.L997_D998insPL	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	523735	not_provided|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|not_specified	MedGen:C3661900|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	9.577e-05	0	0.0006	.	.	.	rs782308502	3.535e-05	3.694e-05	1.652e-05	5.443e-05	0.0004	2.732e-05	2.47e-05	0.0003	0.0002	0	2.365e-05	0	0	2.033e-05	0.0004	7.244e-06	0.0001	0.0004	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1749.94	51	chr8	143929461	.	C	CCAGCGG	1749.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.644;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-2.205e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:65,48:113:99:1764,0,2515	20	0	1	0
chr8	144436648	144436648	C	G	exonic	TONSL	.	nonsynonymous SNV	TONSL:NM_013432:exon16:c.G1924C:p.V642L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.012	B	0.006	B	0.011	N	0.773	D	1.04	L	0.95	T	-1.012	T	0.070	T	0.322	1.735	11.76	3.84	2.161	1.450	7.857	0.075	0.00690216641763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.188	0.28669	T	0.012	0.16265	B	0.006	0.12133	B	0.011215	0.29618	N	0.323038	0.773298	0.34177	D	1.555	0.39373	L	0.95	0.43279	T	-0.75	0.21003	N	0.176	0.18920	-1.0124	0.26165	T	0.070	0.28412	T	10	0.099143386	0.17973	T	0.006902	0.18261	T	0.075	0.21907	0.632	0.76810	0.393471546983	0.38961	0.4338471866313662	0.43301	0.138131228328	0.15575	0.444238871336	0.31156	T	0.102352	0.40998	T	-0.174355	0.24579	T	-0.488225	0.23576	T	0.118895815995404	0.14322	T	.	.	.	0.13006118	0.30358	0.1190179	0.28728	0.13006118	0.30358	0.1190179	0.28727	-5.081	0.37706	T	0.4377886948190077	0.52384	0.166	0.36495	B	.	.	2.206659	0.28145	17.70	0.9824467059509201	0.39512	0.57958	0.30514	D	AEFDGBI	0.066676	0.13069	N	-0.236692221481222	0.31638	1.776051	-0.0688072968252069	0.36687	2.138279	0.998989704160399	0.38135	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.73	3.84	0.43422	0.415000	0.20901	2.201000	0.31287	0.599000	0.40250	0.088000	0.22533	1.000000	0.68203	0.995000	0.73285	0.0:0.8064:0.0:0.1936	7.857	0.28653	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1212.98	59	chr8	144436648	.	C	G	1212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.861;DP=1247;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=-7.300e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1227,0,1703	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,96,0:96:99:.:.:3311,288,0,3311,288,3311	3	5	9	0
chr9	25677983	25677983	C	G	exonic	TUSC1	.	nonsynonymous SNV	TUSC1:NM_001004125:exon1:c.G330C:p.Q110H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.996	D	0.002	U	0.829	N	2.16	M	0.63	T	-0.735	T	0.246	T	0.753	3.722	18.90	3.01	0.612	0.999	8.420	0.165	0.755433499798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.996	0.84481	D	0.001897	0.37740	U	0.000000	0.829302	0.28781	N	1.495	0.37439	L	0.63	0.53088	T	-3.12	0.63782	D	0.554	0.57946	-0.7345	0.58735	T	0.246	0.61471	T	10	0.63899016	0.68947	D	0.755433	0.98054	D	0.165	0.42395	0.223	0.14665	0.321108458156	0.31720	0.04184151175331626	0.04129	1.52252279192	0.87447	0.913326382637	0.97775	D	0.122408	0.44605	T	0.0664873	0.60418	T	-0.142272	0.59921	T	0.989806592464447	0.80024	D	0.514549	0.16570	T	0.33074284	0.55531	0.28966406	0.54987	0.33074284	0.55531	0.28966406	0.54986	-5.388	0.40804	T	.	.	0.851	0.79791	P	.	.	3.613059	0.51089	23.0	0.99512726767510995	0.68739	0.53965	0.29500	D	AEFDGBCIJ	0.117060	0.22948	N	0.350131300457776	0.58747	4.048885	0.254976701844875	0.52934	3.464955	0.999998339304314	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.92	3.01	0.33872	0.985000	0.29177	2.948000	0.35699	-0.305000	0.06155	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.8857:0.0:0.1143	8.420	0.31858	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3709.08	61	chr9	25677983	.	C	G	3709.08	.	AC=2;AF=0.048;AN=42;DP=1088;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.07;SOR=0.898	GT:AD:DP:GQ:PL	1/1:0,137:137:99:3737,410,0	20	1	0	0
chr9	33575256	33575256	A	G	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon20:c.A3361G:p.M1121V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs1460338405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0053	0.0006	0.0009	0.0011	0.0007	0.0006	0.0007	0.0006	0.0009	0	0.0008	0.0032	0.0006	0.0009	0	0.0006	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	30.99	2	chr9	33575256	.	A	G	30.99	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.53;DP=73;ExcessHet=0.0000;FS=10.338;InbreedingCoeff=-0.0528;MLEAC=2;MLEAF=0.077;MQ=56.76;MQRankSum=-5.865e+00;QD=0.62;ReadPosRankSum=0.388;SOR=2.261	GT:AD:DP:GQ:PL	0/1:44,6:50:38:38,0,1090	12	0	1	8
chr9	34257193	34257193	G	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon11:c.C2414T:p.P805L,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.001	B	0.684	N	1.000	N	1.935	M	1.61	T	-1.005	T	0.076	T	0.13	0.140	4.752	1.29	-0.024	0.999	5.373	0.063	0.0107570497827	7.7e-05	.	4.118e-05	9.612e-05	8.637e-05	0	0	1.498e-05	0.0022	0	3.23e-05	5	154602	rs373496914	1.368e-05	1.368e-05	1.497e-05	1.238e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	8.994e-06	8.282e-05	1.159e-05	7.878e-05	7.874e-05	5.139e-05	0.0001	0.0005	4.493e-05	3.509e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0.0034	2.94e-05	0.0005	0	0.067	0.35918	T	0.123	0.40267	T	0.002	0.09854	B	0.001	0.04355	B	0.684358	0.06109	N	1.194930	1	0.08975	N	2.28	0.64929	M	1.61	0.28391	T	-2.87	0.61284	D	0.098	0.15888	-1.0046	0.28577	T	0.076	0.30366	T	10	0.073420554	0.11091	T	0.010757	0.27663	T	0.063	0.18251	.	.	0.548145191872	0.54469	0.10893301391510703	0.10822	.	.	0.235316485167	0.02384	T	0.035511	0.23746	T	-0.410511	0.01972	T	-0.645919	0.09243	T	0.0521617010235786	0.05875	T	0.647535	0.25853	T	0.04433079	0.07067	0.051569592	0.08325	0.04433079	0.07066	0.051569592	0.08325	-3.412	0.15697	T	.	.	0.078	0.11269	B	.;.	.;.	1.095417	0.14792	11.33	0.90229914534275313	0.19502	0.08555	0.14468	N	AEFDBI	0.059726	0.11301	N	-0.813611982479327	0.12962	0.6353261	-0.874462478119304	0.12701	0.6548535	0.999931003666328	0.46732	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.24	1.29	0.20717	1.030000	0.29760	2.599000	0.33511	0.676000	0.76740	0.001000	0.13787	0.237000	0.23824	0.019000	0.11356	0.2478:0.1462:0.606:0.0	5.373	0.15454	294	0.88270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2575.08	40	chr9	34257193	.	G	A	2575.08	.	AC=2;AF=0.048;AN=42;DP=1010;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.30;SOR=0.716	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2603,255,0	20	1	0	0
chr9	35079505	35079505	G	A	exonic	FANCG	.	nonsynonymous SNV	FANCG:NM_004629:exon1:c.C20T:p.S7F,	Fanconi anemia, complementation group G	YES	0	1488	33	1	0	35	0.011624	.	.	138097	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_G|not_specified	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013565,MedGen:C3469527,OMIM:614082,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.119	B	0.014	B	.	.	1.000	N	0	N	0.49	T	-0.923	T	0.179	T	0.163	2.019	12.71	2.0	0.325	-0.039	2.869	0.062	.	0.0012	0.00299521	0.0030	0.0002	0.0016	0	0	0.0032	0.0088	0.0073	0.0026972	417	154602	rs35984312	0.0019	0.0019	0.0017	0.0021	0.0088	0.0019	0.0018	0.0069	0.0065	0.0002	0.0017	0.0374	5.038e-05	7.501e-05	0.0088	0.0007	0.0048	0.0072	0.0017	0.0017	0.0015	0.0020	0.0100	0.0015	0.0015	0.0077	0.0069	7.214e-05	0	0.0010	0.0337	0	0	0.0306	0.0010	0.0019	0.0100	0.028	0.46129	D	0.135	0.34837	T	0.119	0.26641	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	0.49	0.78645	T	-0.84	0.24898	N	0.176	0.18920	-0.9232	0.45112	T	0.179	0.52520	T	9	0.0034295917	0.00060	T	.	.	.	0.062	0.17934	.	.	0.824232542968	0.82256	0.12471963206660289	0.12397	0.242843023396	0.26785	0.250848591328	0.03858	T	0.122376	0.44600	T	-0.431514	0.01452	T	-0.388472	0.34731	T	0.00525606276393134	0.00057	T	0.633437	0.24845	T	0.027672175	0.01993	0.03579487	0.02898	0.027433848	0.01935	0.035762858	0.02889	-5.688	0.43587	T	.	.	0.108	0.20547	B	.;.	.;.	1.459592	0.18817	13.94	0.81733467472474131	0.13832	0.02816	0.07548	N	AEFDGBCIJ	0.047551	0.08020	N	-0.927267469867783	0.10208	0.4867032	-0.921733248751573	0.11582	0.5909083	0.999999833832846	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.96	2.0	0.25495	-0.040000	0.12056	-0.007000	0.13116	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1023:0.1673:0.5346:0.1957	2.869	0.05267	94	0.96106	.;.	.	.	.	.	.	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	0.04762	4984.08	38	chr9	35079505	.	G	A	4984.08	.	AC=2;AF=0.048;AN=42;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.81;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,173:173:99:5012,518,0	20	1	0	0
chr9	76706639	76706639	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G5635A:p.V1879M	.	.	425	1090	7	0	0	7	0.00320073	.	.	2697148	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.154	B	0.006	B	0.284	N	1.000	N	0.92	L	0.91	T	-1.039	T	0.068	T	0.33	-0.287	2.628	-5.78	-1.422	-0.130	8.554	0.014	0.0128293184428	0.0005	0.000599042	0.0003	0.0014	0.0004	0	0	0.0002	0.0011	0.0001	0.0002264	35	154602	rs146002268	9.784e-05	9.919e-05	8.577e-05	0.0001	0.0038	8.445e-05	7.922e-05	0.0026	0.0022	0.0013	0.0002	0	0	0	0.0038	3.238e-05	0.0003	0.0002	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0012	0.0011	0.0015	0	0.0003	0	0	0	0	0.0001	0.0005	0.0006	0.432	0.09486	T	0.132	0.36365	T	0.154	0.28120	B	0.006	0.12133	B	0.284052	0.03852	N	1.447790	1	0.08975	N	0.435	0.12660	N	0.91	0.44856	T	-0.06	0.08033	N	0.033	0.01825	-1.0386	0.17740	T	0.068	0.27879	T	10	0.0075345635	0.00171	T	0.012829	0.31741	T	0.055	0.15663	.	.	0.244539031024	0.24083	0.058691474101930936	0.05810	0.0837993937941	0.09449	0.180590450764	0.00099	T	0.004943	0.08886	T	-0.52154	0.00431	T	-0.557311	0.16630	T	0.000750462608823704	0.00007	T	0.587141	0.21465	T	0.02392281	0.01174	0.031684827	0.01792	0.02392281	0.01174	0.031684827	0.01792	-4.565	0.31729	T	.	.	0.075	0.05623	B	.;.;.	.;.;.	-0.342065	0.02439	0.277	0.71718774207177161	0.09725	0.00508	0.02383	N	AEFDBI	0.032344	0.03636	N	-1.32876656143492	0.03350	0.149506	-1.41623204711726	0.03089	0.1434345	0.999812000851098	0.43459	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	6.04	-5.78	0.02169	-0.125000	0.10555	-0.692000	0.07835	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3919:0.336:0.272	8.554	0.32628	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1041.98	106	chr9	76706639	.	C	T	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=2126;ExcessHet=0.0000;FS=6.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.787;SOR=0.759	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1056,0,1190	20	0	1	0
chr9	77238150	77238150	T	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon18:c.T1744A:p.C582S	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.959	D	0.583	P	0.000	D	1.000	D	1.79	L	0.93	T	-0.873	T	0.119	T	0.684	2.314	13.69	5.59	2.127	1.317	3.392	0.229	0.0273674004787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.007	0.69154	D	0.959	0.55135	D	0.583	0.50264	P	0.000346	0.45440	D	0.137195	0.700188	0.33413	D	2.2	0.62015	M	0.93	0.44065	T	-2.6	0.58569	D	0.702	0.72656	-0.8730	0.50302	T	0.119	0.41626	T	10	0.8568966	0.84890	D	0.027367	0.50187	D	0.229	0.52916	0.853	0.95376	0.68145362076	0.67874	0.6540565763120635	0.65341	0.279983359227	0.30479	0.528860270977	0.42873	T	0.361942	0.72793	T	0.00799444	0.52751	T	-0.226293	0.52130	T	0.909263551235199	0.56411	D	0.868313	0.57032	D	0.26598832	0.49669	0.21069777	0.45467	0.26598832	0.49669	0.21069777	0.45466	-9.769	0.72516	D	.	.	0.682	0.72234	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.493977	0.48848	22.7	0.96571617566601686	0.30297	0.77471	0.38094	D	AEFHCI	0.402180	0.47637	N	0.374660178311007	0.60052	4.190096	0.417685461136656	0.62665	4.485944	0.971830820968708	0.29320	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.59	5.59	0.84677	1.341000	0.33512	6.164000	0.54386	0.609000	0.47794	0.998000	0.41325	1.000000	0.68203	0.979000	0.57723	0.1701:0.1834:0.0:0.6465	3.392	0.06868	827	0.39843	.;.;VPS13, repeated coiled region;.;.;.;VPS13, repeated coiled region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1252.98	33	chr9	77238150	.	T	A	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-1.968e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1267,0,1283	20	0	1	0
chr9	83891296	83891296	T	C	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001271927:exon6:c.A1808G:p.K603R	.	.	438	1082	2	0	0	2	0.000923361	0.9997	0.962	2210450	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.996	D	0.99	D	0.000	D	1.000	D	1.95	M	0.75	T	-0.696	T	0.241	T	0.35	3.329	17.20	4.73	1.981	4.839	12.586	0.106	0.0187903755118	.	.	1.655e-05	0	0	0	0	1.501e-05	0	6.062e-05	0.0001537	4	26028	rs750925868	1.097e-05	1.094e-05	6.822e-06	1.517e-05	0.0002	6.5e-06	5.26e-06	3.034e-05	2.063e-05	0	0	0	0	0	0.0002	4.503e-06	6.638e-05	7.066e-05	6.564e-06	6.561e-06	0	1.342e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.157	0.25664	T	0.332	0.18449	T	0.996	0.68779	D	0.846	0.78936	P	0.000026	0.55875	D	0.000000	0.952693	0.37796	D	2.035	0.55589	M	0.75	0.50192	T	-1.21	0.30762	N	0.391	0.43223	-0.6960	0.60629	T	0.241	0.60893	T	10	0.26639718	0.44144	T	0.01879	0.40966	T	0.106	0.30130	0.2	0.11384	0.625049026612	0.62199	0.32311596480707483	0.32224	0.104354662582	0.11803	0.408090800047	0.26193	T	0.004978	0.04407	T	-0.22571	0.17220	T	-0.356487	0.38458	T	0.641431629657745	0.38097	D	0.761124	0.39255	T	0.15925287	0.35784	0.116814576	0.28199	0.15925287	0.35784	0.116814576	0.28198	-2.112	0.03636	T	.	.	0.088	0.17275	B	.;.;.	.;.;.	5.307652	0.89104	29.9	0.99813712715968439	0.89708	0.98379	0.82178	D	AEFGI	0.717919	0.66928	D	0.48559036014126	0.66248	4.925721	0.477872971387667	0.66527	4.963616	0.101694179520624	0.16388	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.73	4.73	0.59485	5.151000	0.64720	7.561000	0.60481	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.586	0.55771	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	882.98	34	chr9	83891296	.	T	C	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=736;ExcessHet=0.0000;FS=7.268;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.50;MQRankSum=-6.093e+00;QD=13.38;ReadPosRankSum=-1.990e+00;SOR=1.688	GT:AD:DP:GQ:PL	0/1:32,34:66:99:897,0,763	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:104,45:149:96:96,0,1644	0	0	21	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:1,18,22,0,0,0:41:99:1424,815,906,641,0,670,1470,912,713,1583,1470,912,713,1583,1583,1470,912,713,1583,1583,1583	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:1,18,22,0,0,0:41:99:1424,815,906,641,0,670,1470,912,713,1583,1470,912,713,1583,1583,1470,912,713,1583,1583,1583	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:1,18,22,0,0,0:41:99:1424,815,906,641,0,670,1470,912,713,1583,1470,912,713,1583,1583,1470,912,713,1583,1583,1583	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:1,18,22,0,0,0:41:99:1424,815,906,641,0,670,1470,912,713,1583,1470,912,713,1583,1583,1470,912,713,1583,1583,1583	1	2	3	0
chr9	96938431	96938431	C	T	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001170741:exon7:c.C1508T:p.T503M,	.	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.078	N	1.000	N	1.61	L	2.66	T	-1.001	T	0.043	T	0.066	0.046	4.255	0.736	0.723	0.121	4.861	0.031	0.000755969560128	.	.	0.0015	0.0091	0	0	0	0.0016	0	0.0002	3.84e-05	1	26028	rs766938596	0.0005	0.0010	0.0005	0.0005	0.0055	0.0004	0.0004	0.0048	0.0045	0.0055	0.0004	0.0006	0.0001	0.0003	0.0020	0.0004	0.0005	0.0001	0.0017	0.0024	0.0018	0.0016	0.0050	0.0015	0.0014	0.0044	0.0042	0.0050	0	0.0011	0.0003	0	0.0008	0	0.0003	0.0005	0.0002	0.113	0.28772	T	0.127	0.35082	T	.	.	.	.	.	.	0.077615	0.02318	N	1.979660	1	0.08975	N	0.99	0.25021	L	2.66	0.12575	T	-1.59	0.38345	N	0.092	0.07125	-1.0013	0.29545	T	0.043	0.18659	T	8	0.006958455	0.00158	T	7.56E-4	0.00529	T	0.031	0.07369	.	.	0.0297737177859	0.01360	0.07896280864985115	0.07831	.	.	0.583758473396	0.50614	T	0.008615	0.07902	T	-0.335898	0.05677	T	-0.720271	0.04783	T	0.00714833768998911	0.00082	T	0.375462	0.08961	T	0.029064903	0.02342	0.054194964	0.09276	0.029064903	0.02341	0.054194964	0.09275	-5.533	0.42176	T	.	.	0.085	0.10208	B	.	.	0.846054	0.12182	8.727	0.88740040113790519	0.18216	0.00296	0.01581	N	AEFGI	0.025075	0.01656	N	-0.623387551675518	0.18244	0.9455722	-0.858944109297307	0.13072	0.6761596	5.44189052869553E-5	0.04171	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.727631	0.95156	0	.	.	0.736	0.736	0.17456	0.037000	0.13728	-20.000000	0.00162	-0.419000	0.05236	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	4.861	0.12944	803	0.44167	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	500.98	46	chr9	96938431	.	C	T	500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.35;MQRankSum=-7.660e-01;QD=5.51;ReadPosRankSum=0.176;SOR=0.788	GT:AD:DP:GQ:PL	0/1:63,28:91:99:515,0,1438	20	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,41:76:99:.:.:1601,1710,3093,0,1396,1319	2	0	1	0
chr9	101670272	101670272	A	C	exonic	GRIN3A	.	nonsynonymous SNV	GRIN3A:NM_133445:exon3:c.T2140G:p.F714V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.66	M	0.74	T	-0.286	T	0.335	T	0.954	4.042	20.7	5.39	2.191	9.284	15.764	0.783	0.157211535968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-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	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	0.74	0.50459	T	-6.52	0.91695	D	0.95	0.95841	-0.2865	0.75362	T	0.335	0.70174	T	10	0.9034866	0.89712	D	0.157212	0.83784	D	0.783	0.92787	0.688	0.82558	0.765804603152	0.76366	0.9345820228013628	0.93438	0.666330335835	0.59191	0.847076773643	0.89172	D	0.725988	0.92293	D	0.287517	0.81952	D	0.175222	0.81719	D	0.998877823352814	0.95438	D	0.919908	0.71037	D	0.8612191	0.88179	0.8369732	0.90639	0.8612191	0.88181	0.8369732	0.90640	-15.917	0.97634	D	.	.	0.975	0.90273	P	.	.	5.036117	0.83793	28.1	0.99112641288365055	0.52776	0.99504	0.96829	D	AEFI	0.894689	0.83392	D	0.882232352305684	0.90861	10.60111	0.841726993174488	0.92525	11.47612	0.999998051289631	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	9.325000	0.96006	11.216000	0.89583	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.764	0.77876	898	0.25240	Ionotropic glutamate receptor|Ionotropic glutamate receptor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	81	chr9	101670272	.	A	C	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.074e+00;DP=1681;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=0.231;SOR=0.603	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1055,0,1453	20	0	1	0
chr9	104791984	104791984	C	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon43:c.G5772C:p.K1924N,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.247	B	0.088	B	0.000	D	1.000	D	1.415	L	-3.17	D	0.200	D	0.664	D	0.234	2.553	14.50	4.92	1.467	0.703	9.087	0.335	0.06221081517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0	5.055e-05	0	0	0.0002	0.0001	4.657e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.091	0.40110	T	0.247	0.31125	B	0.088	0.29688	B	0.000000	0.84330	D	0.045089	0.999755	0.48800	D	1.13	0.28900	L	-3.17	0.93054	D	-1.21	0.30762	N	0.552	0.57775	0.200	0.85915	D	0.664	0.88344	D	10	0.61665916	0.67744	D	0.062211	0.68581	D	0.335	0.65718	0.505	0.59924	0.9309695667	0.93025	0.7757620043553375	0.77526	0.840773140511	0.68051	0.697716891766	0.66815	T	0.417549	0.77016	T	0.0336622	0.56210	T	-0.189423	0.55645	T	0.914153516292572	0.57069	D	0.827217	0.49094	T	0.21141762	0.43466	0.13099158	0.31463	0.21141762	0.43466	0.13099158	0.31462	-2.565	0.06242	T	0.3071058489311145	0.40482	0.557	0.67094	A	.	.	3.371619	0.46592	22.3	0.995040822481701	0.68206	0.88309	0.48179	D	ALL	0.483156	0.52372	N	-0.0355436023887051	0.40251	2.387167	0.105231415740194	0.44815	2.756065	0.999999999999994	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.82	4.92	0.64147	1.071000	0.30278	1.106000	0.24114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.733:0.0:0.267	9.087	0.35749	950	0.11238	ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	133.7	66	chr9	104791984	.	C	G	133.7	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.995e+00;DP=1874;ExcessHet=0.3300;FS=259.479;InbreedingCoeff=-0.0772;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=1.26;SOR=11.043	GT:AD:DP:GQ:PL	0/1:64,30:94:49:49,0,914	18	0	3	0
chr9	113297610	113297610	C	A	exonic	RNF183	.	nonsynonymous SNV	RNF183:NM_001371234:exon2:c.G575T:p.G192V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.963	D	0.023	N	1.000	D	0.345	N	1.81	T	-1.016	T	0.090	T	0.495	2.545	14.47	5.46	2.840	3.169	16.861	0.186	0.017749124244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.963	0.70837	D	0.022784	0.26566	N	0.294563	0.999994	0.58761	D	0.55	0.14455	N	1.81	0.25182	T	-1.91	0.44471	N	0.397	0.49146	-1.0157	0.25110	T	0.090	0.34628	T	10	0.33291066	0.50490	T	0.017749	0.39570	T	0.186	0.46104	0.453	0.51612	0.481915485015	0.47822	0.8401824353595216	0.83978	1.14165798427	0.78952	0.480162739754	0.36079	T	0.007439	0.06846	T	-0.0902804	0.38030	T	-0.367458	0.37185	T	0.861235499382019	0.51164	D	0.572043	0.20399	T	0.31634584	0.54330	0.41733962	0.65790	0.31634584	0.54330	0.41733962	0.65791	-3.656	0.18671	T	.	.	0.241	0.47535	B	.;.;.;.	.;.;.;.	3.282927	0.44992	22.0	0.997061924334678	0.81005	0.95732	0.65918	D	AEFBI	0.601938	0.59399	D	0.396121017251961	0.61212	4.319225	0.399629424281261	0.61540	4.35576	0.999886611100648	0.44867	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	2.742000	0.47109	3.774000	0.39765	0.599000	0.40250	0.658000	0.28243	0.999000	0.35428	0.090000	0.17789	0.0:1.0:0.0:0.0	16.861	0.85884	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	791.98	34	chr9	113297610	.	C	A	791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-8.820e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/1:60,36:96:99:806,0,1448	20	0	1	0
chr9	114330016	114330016	C	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.C112T:p.R38W,	.	.	435	1082	5	0	0	5	0.00230521	0.0016	0.05	2761981	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	0.018	N	1.000	N	-0.22	N	2.25	T	-1.029	T	0.040	T	0.099	0.082	4.442	-5.32	-1.977	-1.636	3.676	0.021	0.00478542452078	0.0002	0.000399361	0.0002	0.0010	0	0	0	9.068e-05	0	0.0005	7.68e-05	2	26028	rs370008862	7.179e-05	7.321e-05	4.428e-05	9.97e-05	0.0006	6.025e-05	5.626e-05	0.0005	0.0004	0.0002	0.0001	0	0	0	0.0004	2.733e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0002	0.0009	8.515e-05	7.012e-05	0.0003	0.0002	0.0003	0	0	0	0	0	0	5.932e-05	0	0.0009	0.284	0.15303	T	0.19	0.28482	T	0.002	0.09854	B	0.001	0.04355	B	0.018297	0.01484	N	2.323500	1	0.08975	N	0.82	0.20857	L	2.25	0.17761	T	1.77	0.00531	N	0.135	0.13198	-1.0293	0.20681	T	0.040	0.17063	T	10	0.009924918	0.00223	T	0.004785	0.11941	T	0.021	0.04004	.	.	0.117506650769	0.11410	0.5673541984152128	0.56663	2.25596430734	0.96136	.	.	.	0.002978	0.02381	T	-0.634372	0.00090	T	-0.792631	0.02093	T	0.0200365446859801	0.00704	T	0.70163	0.31127	T	0.16767883	0.37179	0.058079775	0.10671	0.16767883	0.37178	0.058079775	0.10670	-7.397	0.56883	T	.	.	0.126	0.26638	B	.	.	0.567807	0.09362	6.144	0.74860319409561638	0.10855	0.00155	0.00932	N	AEFDGBI	0.152286	0.27693	N	-1.51004836739312	0.01783	0.07812823	-1.61660698346242	0.01558	0.07059329	0.999999952920055	0.74766	0.559995	0.30671	0	0.514364	0.08380	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.66	-5.32	0.02511	-1.135000	0.03337	-1.769000	0.04759	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.4238:0.1556:0.0:0.4206	3.676	0.07829	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	382.98	34	chr9	114330016	.	C	T	382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-02;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.62;MQRankSum=-1.070e-01;QD=9.34;ReadPosRankSum=0.353;SOR=0.624	GT:AD:DP:GQ:PL	0/1:22,19:41:99:397,0,468	20	0	1	0
chr9	122526449	122526449	A	G	exonic	OR1N1	.	nonsynonymous SNV	OR1N1:NM_012363:exon1:c.T845C:p.M282T,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.366	B	0.032	B	0.001	U	0.807	N	2.3	M	1.2	T	-0.912	T	0.091	T	0.292	0.667	7.571	3.47	1.472	2.057	11.151	0.099	0.00907860615025	.	.	2.712e-05	0	0	0.0001	0	3.125e-05	0	0	1.94e-05	3	154602	rs200831920	7.219e-06	6.84e-06	8.522e-06	5.872e-06	0.0002	3.65e-06	2.66e-06	2.7e-06	1.74e-06	0	0	0	0	0	0.0002	6.499e-06	1.754e-05	1.39e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.025	0.56192	D	0.366	0.34016	B	0.032	0.22131	B	0.000901	0.41231	U	0.000000	0.80671	0.29050	N	0.455	0.12820	N	1.2	0.37405	T	-4.41	0.77391	D	0.145	0.14622	-0.9120	0.46607	T	0.091	0.34765	T	10	0.14468661	0.27455	T	0.009079	0.23893	T	0.099	0.28413	0.58	0.70604	0.362361684037	0.35846	0.2043132918052182	0.20348	0.13041232691	0.14709	0.19962105155	0.00446	T	0.008325	0.07654	T	-0.315938	0.07236	T	-0.510689	0.21244	T	0.227636575698853	0.21839	T	0.517648	0.16760	T	0.22074161	0.44637	0.4116052	0.65387	0.22074161	0.44637	0.4116052	0.65387	-5.953	0.45884	T	.	.	0.314	0.54034	B	.;.	.;.	1.928143	0.24491	16.42	0.86136936568351519	0.16337	0.36479	0.25542	N	AEFDGBI	0.107678	0.21446	N	-0.391782849741099	0.25760	1.400833	-0.463203241662368	0.23176	1.262495	0.942609550180376	0.27529	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.47	3.47	0.38831	1.253000	0.32488	2.635000	0.33717	-0.144000	0.12334	0.000000	0.06391	0.090000	0.22521	0.592000	0.31189	1.0:0.0:0.0:0.0	11.151	0.47685	894	0.26265	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1065.98	35	chr9	122526449	.	A	G	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.175e+00;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.292e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1080,0,1106	20	0	1	0
chr9	127467774	127467774	C	T	exonic	LRSAM1	.	nonsynonymous SNV	LRSAM1:NM_001005374:exon9:c.C563T:p.P188L	Charcot-Marie-Toothe disease, axonal, type 2P, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	458829	Charcot-Marie-Tooth_disease_axonal_type_2P	Gene:431712,MONDO:MONDO:0013753,MedGen:C3280797,OMIM:614436,Orphanet:300319,Orphanet:99941	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	1.0	D	0.999	D	0.000	D	1.000	D	2.215	M	0.96	T	-0.045	T	0.591	D	0.796	3.268	16.97	5.46	2.581	4.183	14.809	0.411	0.310909597252	0.0002	0.000399361	5.766e-05	0.0003	0	0.0001	0	4.094e-05	0	0	5.82e-05	9	154602	rs138830549	3.565e-05	3.625e-05	3.001e-05	4.136e-05	0.0002	2.769e-05	2.507e-05	0.0001	7.236e-05	5.976e-05	4.503e-05	0	0.0002	0	0	2.7e-05	0.0001	3.51e-05	9.845e-05	9.842e-05	8.991e-05	0.0001	0.0005	6e-05	4.874e-05	0.0002	0.0002	0.0001	0	0.0005	0	0.0004	0	0	0	0	0	0.079	0.33753	T	0.185	0.28958	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	0.96	0.79761	T	-8.08	0.96650	D	0.871	0.86833	-0.0455	0.81302	T	0.591	0.85364	D	10	0.8022964	0.79615	D	0.31091	0.91182	D	0.411	0.72252	.	.	0.90866188364	0.90774	0.46995358583002417	0.46914	0.708778403332	0.61575	0.576048374176	0.49529	T	0.411223	0.76573	T	-0.00645679	0.50759	T	0.0729585	0.75107	D	0.857014179229736	0.50781	D	0.89781	0.64256	D	0.33508635	0.55885	0.34157112	0.59894	0.33508635	0.55886	0.34157112	0.59894	-10.392	0.76242	D	0.9255685117039608	0.96852	0.712	0.73625	P	.;.;.;.	.;.;.;.	4.697871	0.75339	26.3	0.99885317291502163	0.96049	0.88811	0.48921	D	AEFDGBI	0.437211	0.49711	N	0.351972554001504	0.58845	4.059205	0.302541633872799	0.55689	3.731755	0.999999985686865	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	4.598000	0.60777	7.654000	0.63860	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.116000	0.19000	0.0:1.0:0.0:0.0	14.809	0.69606	511	0.75131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1056.98	34	chr9	127467774	.	C	T	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.213e+00;DP=841;ExcessHet=0.0000;FS=1.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.343e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1071,0,1043	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,18,10:91:6:.:.:6,0,2191,90,1590,1849	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,24:91:99:.:.:210,0,1028	10	0	10	1
chr9	128101182	128101182	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G348C:p.K116N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.881	P	0.593	P	0.000	D	1.000	D	2.355	M	0.89	T	-0.234	T	0.486	T	0.226	1.878	12.24	-1.27	-0.511	-0.489	13.159	0.278	0.115383419939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.17468	T	0.305	0.20486	T	0.881	0.48446	P	0.593	0.50536	P	0.000000	0.84330	D	0.087699	0.999999	0.81001	D	2.34	0.67151	M	0.89	0.80387	T	-2.66	0.59710	D	0.487	0.55886	-0.2337	0.76790	T	0.486	0.80441	T	10	0.16160071	0.30308	T	0.115383	0.79455	D	0.278	0.59497	0.591	0.71999	0.171220215726	0.16700	0.6806528368207055	0.68004	0.713815710114	0.61846	0.838614344597	0.87883	D	0.305529	0.67778	T	-0.0597631	0.42946	T	-0.323622	0.42176	T	0.529833555221558	0.33728	D	0.947505	0.80370	D	0.42320445	0.62304	0.32403204	0.58331	0.42320445	0.62305	0.32403204	0.58330	-7.747	0.73540	D	.	.	0.558	0.77574	A	.;.;.;.;.	.;.;.;.;.	1.452777	0.18743	13.90	0.98597571278657536	0.43454	0.27556	0.23311	N	AEFGBI	0.195335	0.32238	N	-0.694203406124448	0.16186	0.8224066	-0.713057584978373	0.16636	0.8809873	0.999932680091442	0.46732	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	-1.27	0.08863	-0.472000	0.06702	-0.668000	0.07948	-0.046000	0.17342	0.037000	0.20830	0.000000	0.08366	0.998000	0.85391	0.3502:0.0:0.6498:0.0	13.159	0.58953	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	77.14	127	chr9	128101182	.	G	C	77.14	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.161e+00;DP=1237;ExcessHet=0.6776;FS=115.371;InbreedingCoeff=-0.0994;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.18;ReadPosRankSum=1.27;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,16:119:41:0|1:128101182_G_C:41,0,3893:128101182	17	0	4	0
chr9	128101187	128101187	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G353C:p.R118T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.572	P	0.000	D	1.000	D	2.065	M	-0.7	T	-0.438	T	0.380	T	0.804	2.016	12.70	5.33	2.487	4.398	18.009	0.416	0.0420021043119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.19225	T	0.369	0.16522	T	0.868	0.47740	P	0.572	0.49931	P	0.000000	0.84330	D	0.041945	0.999998	0.81001	D	2.215	0.62545	M	-0.7	0.72785	T	-2.41	0.54546	N	0.667	0.67736	-0.4377	0.70807	T	0.380	0.73692	T	10	0.5000973	0.61497	D	0.042002	0.60234	D	0.416	0.72631	0.61	0.74300	0.200294437569	0.19612	0.8142011479369076	0.81376	0.978056266541	0.73627	0.778474271297	0.78698	T	0.436539	0.78289	T	0.186908	0.72678	D	0.0307039	0.72323	D	0.797435283660889	0.46180	D	0.844516	0.79334	T	0.4251696	0.62434	0.347225	0.60379	0.4251696	0.62435	0.347225	0.60379	-8.202	0.67762	D	.	.	0.415	0.76696	A	.;.;.;.;.	.;.;.;.;.	4.561538	0.71881	25.7	0.93999598795195805	0.24094	0.96966	0.71921	D	AEFGBI	0.764155	0.70104	D	0.177338735965513	0.50112	3.204398	0.295564956828609	0.55281	3.691184	0.999999882866597	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	5.33	0.75683	4.489000	0.60035	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.009	0.89140	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	139.95	128	chr9	128101187	.	G	C	139.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.915e+00;DP=1519;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.933;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,16:116:49:0|1:128101182_G_C:49,0,3843:128101182	17	0	4	0
chr9	128101188	128101188	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G354C:p.R118S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.494	P	0.000	D	1.000	D	2.41	M	-0.72	T	-0.592	T	0.312	T	0.766	2.552	14.49	2.45	1.235	0.510	8.422	0.565	0.0635115361609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0037	0.0001	0.0001	0.0002	9.968e-05	9.425e-05	0.0001	0.0001	0.0002	0	0	2.538e-05	0	0	0.0001	5.152e-05	5.882e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.23007	T	0.36	0.17014	T	0.868	0.47740	P	0.494	0.47478	P	0.000000	0.84330	D	0.041945	1	0.81001	D	2.27	0.64531	M	-0.72	0.72994	T	-2.2	0.50502	N	0.592	0.61172	-0.5924	0.65125	T	0.312	0.68220	T	10	0.42217892	0.56938	T	0.063512	0.68991	D	0.565	0.82232	0.611	0.74418	0.266724437049	0.26276	0.8208935264102138	0.82046	1.10394199327	0.77820	0.748741447926	0.74261	T	0.421327	0.77275	T	0.148143	0.69094	D	-0.02498	0.68702	D	0.774935901165009	0.44738	D	0.959804	0.85511	D	0.35418284	0.57390	0.3380839	0.59591	0.35418284	0.57391	0.3380839	0.59590	-7.65	0.62296	D	.	.	0.623	0.82606	P	.;.;.;.;.	.;.;.;.;.	3.414575	0.47383	22.4	0.99085328864255551	0.52075	0.94030	0.59902	D	AEFGBI	0.643967	0.62039	D	0.0999592402221534	0.46460	2.886059	0.114203922356772	0.45274	2.793509	0.999955091771372	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	2.45	0.28953	0.535000	0.22822	2.384000	0.32503	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.3583:0.0:0.6417:0.0	8.422	0.31866	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	144.95	126	chr9	128101188	.	G	C	144.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.017e+00;DP=1773;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1059;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=0.925;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,16:115:52:0|1:128101182_G_C:52,0,3818:128101182	17	0	4	0
chr9	128258520	128258522	CCT	-	exonic	GOLGA2	.	nonframeshift deletion	GOLGA2:NM_001366246:exon21:c.2105_2107del:p.E703del	.	.	334	916	219	43	10	315	0.142723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6196.26	36	chr9	128258516	.	GCCTCCT	GCCT,G	6196.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.320e-01;DP=932;ExcessHet=1.7912;FS=2.196;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.432;SOR=0.574	GT:AD:DP:GQ:PL	0/1:80,68,6:154:99:2545,0,3084,2554,3056,6002	15	0	5	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S,	.	.	415	1082	24	1	0	26	0.0118721	.	.	458911	not_provided|DYNC2I2-related_disorder|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly	MedGen:C3661900|.|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.402	B	0.119	B	0.000	D	1.000	D	1.91	M	1.65	T	-1.085	T	0.061	T	0.855	3.786	19.22	5.24	2.448	5.565	17.824	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5394.68	36	chr9	128634837	.	C	T	5394.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.857;DP=1077;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.16;SOR=0.664	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1455,0,1331	18	0	3	0
chr9	128797185	128797185	G	A	exonic	TBC1D13	.	nonsynonymous SNV	TBC1D13:NM_001286772:exon7:c.G514A:p.V172M	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.986	D	0.939	D	0.000	D	1.000	D	2.14	M	0.93	T	-0.620	T	0.256	T	0.798	5.260	33	5.46	2.576	9.623	18.291	0.232	0.0270463978813	.	0.000998403	0.0011	0	8.646e-05	0.0001	0	1.5e-05	0	0.0078	0.000912	141	154602	rs539585390	0.0004	0.0004	0.0002	0.0007	0.0071	0.0004	0.0004	0.0066	0.0065	0	2.236e-05	0	0.0002	0	0.0010	6.295e-06	0.0003	0.0071	0.0002	0.0002	6.426e-05	0.0003	0.0064	0.0001	0.0001	0.0047	0.0040	0	0	0	0	0	0	0	0	0	0.0064	0.009	0.59928	D	0.02	0.63109	D	0.986	0.61523	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.755	0.80505	M	0.93	0.44065	T	-1.65	0.39503	N	0.693	0.79406	-0.6195	0.64009	T	0.256	0.62665	T	10	0.009771854	0.00220	T	0.027046	0.49902	D	0.232	0.53354	.	.	0.627396708286	0.62436	0.5342246975075227	0.53347	1.32366704926	0.83499	0.769004106522	0.77275	T	0.096165	0.39769	T	-0.204586	0.20147	T	-0.0618038	0.66206	T	0.137689521291688	0.16074	T	0.966353	0.87680	D	0.22065136	0.44625	0.2631841	0.52121	0.22065136	0.44625	0.2631841	0.52120	-4.208	0.28554	T	.	.	0.555	0.76533	A	.;.	.;.	4.735855	0.76327	26.5	0.9991122385928396	0.98022	0.99236	0.93238	D	AEFDGBI	0.910619	0.86878	D	0.845004885921464	0.88822	9.725112	0.835344122205263	0.92129	11.25341	0.999999999999343	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	9.750000	0.98081	11.701000	0.94500	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.291	0.90072	780	0.47616	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	34	chr9	128797185	.	G	A	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=795;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=0.795;SOR=0.843	GT:AD:DP:GQ:PL	0/1:54,36:90:99:768,0,1287	20	0	1	0
chr9	131477754	131477754	G	A	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon16:c.G2335A:p.E779K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.806	P	0.001	U	1.000	D	1.79	L	4.17	T	-0.542	T	0.319	T	0.495	3.334	17.22	4.98	2.470	6.096	15.773	0.201	0.0225486478875	0.0020	0.000599042	0.0019	0.0005	0	0	0.0019	0.0030	0	0.0006	0.0016947	262	154602	rs192404714	0.0026	0.0026	0.0026	0.0026	0.0032	0.0025	0.0025	0.0031	0.0031	0.0007	0.0004	0.0003	0	0.0010	0	0.0032	0.0016	0.0006	0.0015	0.0015	0.0015	0.0015	0.0029	0.0013	0.0013	0.0026	0.0024	0.0004	0	0.0001	0.0009	0	0.0005	0	0.0029	0.0009	0.0002	0.003	0.68238	D	0.635	0.45961	T	0.993	0.65571	D	0.645	0.52270	P	0.000806	0.41658	U	0.000000	0.549854	0.81001	D	2.56	0.74772	M	4.08	0.03003	T	-1.64	0.57110	N	0.563	0.58713	-0.5421	0.67084	T	0.319	0.68822	T	10	0.009887159	0.00222	T	0.022549	0.45449	T	0.225	0.52323	.	.	0.0934897674506	0.08844	0.3248946040762868	0.32402	0.308008756825	0.33102	0.525519013405	0.42404	T	0.041331	0.25824	T	-0.402523	0.02229	T	-0.353079	0.38852	T	0.039525416748714	0.03604	T	0.945705	0.79334	D	0.26888698	0.49961	0.3543852	0.60984	0.26888698	0.49961	0.3543852	0.60983	-4.681	0.33173	T	.	.	0.206	0.45726	B	.;.	.;.	4.801428	0.78012	26.8	0.99883566726263118	0.95892	0.97474	0.74982	D	AEFDGBHCI	0.569643	0.57434	D	0.252800915797597	0.53778	3.545254	0.266345524611879	0.53586	3.526682	0.999999999723198	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	4.744000	0.61813	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.403000	0.26849	0.0:0.0:1.0:0.0	15.773	0.77955	483	0.77230	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	266.98	29	chr9	131477754	.	G	A	266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=715;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.34;ReadPosRankSum=1.50;SOR=0.512	GT:AD:DP:GQ:PL	0/1:18,14:32:99:281,0,359	20	0	1	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,81,0:81:99:2324,243,0,2324,243,2324	0	17	3	0
chr9	136466267	136466267	G	T	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon6:c.C4125A:p.H1375Q	.	.	427	1091	3	1	0	5	0.00228624	.	.	700894	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.054	B	0.047	B	0.010	N	1.000	D	0.585	N	2.16	T	-1.029	T	0.041	T	0.23	-1.486	0.018	-6.73	-1.156	-1.702	5.290	0.035	.	0.0047	0.00519169	0.0041	0.0159	0.0108	0.0008	0	0.0039	0.0083	0.0002	0.0026778	414	154602	rs116048441	0.0023	0.0023	0.0024	0.0022	0.0187	0.0022	0.0022	0.0158	0.0148	0.0108	0.0072	0.0015	2.626e-05	3.992e-05	0.0187	0.0019	0.0059	0.0001	0.0054	0.0054	0.0054	0.0054	0.0113	0.0051	0.0049	0.0099	0.0094	0.0101	0	0.0113	0.0020	0	0	0.0408	0.0026	0.0156	0	0.608	0.05501	T	1.0	0.06621	T	0.0	0.02946	B	0.001	0.04355	B	0.009909	0.30147	N	0.406569	0.999959	0.19072	N	.	.	.	2.16	0.26301	T	-0.32	0.13611	N	0.109	0.14905	-1.0291	0.20746	T	0.041	0.17742	T	10	0.0039989054	0.00077	T	.	.	.	0.035	0.08770	0.137	0.04097	0.31316556289	0.30919	0.26355508398637184	0.26268	0.0721005396549	0.08083	0.255093038082	0.04324	T	0.005021	0.04451	T	-0.609521	0.00128	T	-0.637923	0.09821	T	0.000112901098238404	0.00001	T	0.738626	0.37241	T	0.022645678	0.00943	0.030883446	0.01601	0.022645678	0.00943	0.030883446	0.01601	-2.775	0.07955	T	.	.	0.107	0.19998	B	.;.;.;.;.	.;.;.;.;.	-1.471208	0.00313	0.005	0.31869288946564767	0.01818	0.05875	0.11823	N	AEFDGBI	0.036968	0.05009	N	-1.1057342698732	0.06540	0.3013556	-1.27390133933766	0.04786	0.226603	0.994154081489646	0.33512	0.706548	0.73137	0	0.702456	0.74545	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	5.69	-6.73	0.01586	-1.663000	0.02070	-1.283000	0.05821	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.2644:0.4873:0.0978:0.1505	5.290	0.15030	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	940.98	34	chr9	136466267	.	G	T	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=812;ExcessHet=0.0000;FS=1.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=2.13;SOR=0.954	GT:AD:DP:GQ:PL	0/1:48,43:91:99:955,0,1170	20	0	1	0
chr9	136853605	136853605	C	T	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon4:c.C389T:p.S130L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.887	P	0.259	B	0.063	N	0.995	N	3.41	M	4.03	T	-0.991	T	0.027	T	0.368	2.518	14.38	4.52	2.064	2.149	14.712	0.150	0.0262065967981	.	.	1.702e-05	0	0	0	0	3.13e-05	0	0	1.29e-05	2	154602	rs755274526	1.233e-05	1.231e-05	1.635e-05	8.259e-06	5.974e-05	7.7e-06	6.36e-06	9.89e-06	3.88e-06	5.974e-05	2.236e-05	0.0002	0	0	0	9.893e-06	0	0	3.944e-05	3.94e-05	6.426e-05	1.346e-05	7.24e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	4.412e-05	0	0	0.071	0.53172	T	0.005	0.72224	D	0.887	0.48784	P	0.259	0.39405	B	0.062827	0.22069	N	0.386473	0.999579	0.23504	N	3.63	0.94006	H	4.03	0.03149	T	-4.5	0.78135	D	0.743	0.74280	-0.9914	0.32244	T	0.027	0.11485	T	10	0.9273427	0.92080	D	0.026207	0.49134	D	0.150	0.39571	0.835	0.94294	0.19670166235	0.19296	0.77437673468557	0.77387	0.185548957451	0.20862	0.455315053463	0.32670	T	0.182592	0.53465	T	-0.171792	0.24963	T	-0.401678	0.33188	T	0.943548858165741	0.61881	D	0.873313	0.58144	D	0.28857464	0.51859	0.2325595	0.48420	0.28857464	0.51859	0.2325595	0.48419	-4.225	0.33622	T	.	.	0.601	0.68913	P	.;.	.;.	3.619350	0.51212	23.1	0.99870156957603717	0.94815	0.50624	0.28706	D	AEFDGBCI	0.136359	0.25699	N	0.188383741633578	0.50643	3.252212	0.0697936382388288	0.43040	2.613974	0.999999789389592	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.52	4.52	0.54797	2.328000	0.43526	7.425000	0.58746	0.549000	0.26987	0.904000	0.31524	1.000000	0.68203	0.015000	0.10482	0.0:1.0:0.0:0.0	14.712	0.68853	964	0.07719	.;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	34	chr9	136853605	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=811;ExcessHet=0.0000;FS=4.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.935;SOR=0.937	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1315,0,941	20	0	1	0
chr9	136994963	136994963	-	T	exonic	CLIC3	.	frameshift insertion	CLIC3:NM_004669:exon5:c.518dupA:p.D173Efs*75,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897554800	0.0001	0.0001	0.0001	0.0001	0.0013	9.591e-05	9.033e-05	0.0005	0.0003	0.0005	0.0005	0	0	0	0.0013	9.126e-05	0.0003	0	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0010	0.0008	0.0004	0	0.0014	0	0	0	0.0068	7.382e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2372.94	25	chr9	136994963	.	G	GT	2372.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=820;ExcessHet=0.0000;FS=4.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=0.186;SOR=0.685	GT:AD:DP:GQ:PL	0/1:86,77:163:99:2387,0,2730	20	0	1	0
chr9	136995001	136995001	G	T	exonic	CLIC3	.	nonsynonymous SNV	CLIC3:NM_004669:exon5:c.C481A:p.R161S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.665	M	-3.34	D	0.937	D	0.880	D	0.511	4.396	23.3	4.28	2.196	1.725	11.725	0.719	0.797126124766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.955e-06	4.104e-06	1.455e-06	4.503e-06	3.756e-06	6.9e-07	4.7e-07	8.8e-07	5.9e-07	0	0	0	0	0	0	3.756e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999429	0.47006	D	3.145	0.88303	M	-3.34	0.93975	D	-5.51	0.85921	D	0.379	0.42050	0.937	0.96201	D	0.880	0.96018	D	10	0.6999692	0.72381	D	0.797126	0.98411	D	0.719	0.90056	0.443	0.49975	0.96170463862	0.96129	0.8071269675331062	0.80667	1.63632663427	0.89315	0.555182158947	0.46587	T	0.468625	0.80249	T	0.175567	0.71635	D	0.014413	0.71269	D	0.994342803955078	0.85578	D	0.988918	0.96255	D	0.9515174	0.96420	0.7834878	0.87242	0.9515174	0.96420	0.7834878	0.87243	-9.74	0.72341	D	.	.	0.935	0.85458	P	.	.	4.602660	0.72918	25.9	0.99752771176264565	0.84382	0.77194	0.37928	D	AEFDGBCIJ	0.637332	0.61615	D	0.603741292895103	0.73412	5.961729	0.518398929978473	0.69230	5.330644	0.99999998241323	0.74766	0.608966	0.35542	0	0.550933	0.16991	0	0.578056	0.29568	0	0.505526	0.08623	0	.	.	4.28	4.28	0.50183	1.468000	0.34941	8.255000	0.76867	0.524000	0.24156	0.975000	0.34726	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.8232:0.1768	11.725	0.50968	976	0.04745	Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1681.98	29	chr9	136995001	.	G	T	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.580e-01;DP=862;ExcessHet=0.0000;FS=4.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.881;SOR=0.935	GT:AD:DP:GQ:PL	0/1:88,80:168:99:1696,0,1892	20	0	1	0
chr9	137478118	137478118	G	A	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon24:c.C2723T:p.P908L	.	.	324	1190	8	0	0	8	0.00335008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.876	P	0.000	D	1.000	D	2.175	M	1.9	T	-1.158	T	0.005	T	0.661	2.892	15.64	4.67	2.130	9.077	16.550	0.306	.	0.0008	0.0259585	0.0158	0.0016	0	0.2107	0	0.0015	0.0128	0.0085	0.0055756	862	154602	rs3812499	0.0042	0.0044	0.0044	0.0041	0.1444	0.0041	0.0041	0.1406	0.1391	0.0008	0.0003	0	0.1444	0.0019	0.0014	0.0005	0.0077	0.0026	0.0053	0.0053	0.0044	0.0062	0.1200	0.0050	0.0049	0.1122	0.1091	0.0017	0	0.0007	0	0.1200	0.0017	0.0034	0.0006	0.0047	0.0077	0.004	0.68238	D	0.013	0.63109	D	0.894	0.90584	P	0.217	0.62173	B	0.000026	0.55875	D	0.121229	1	0.81001	D	2.455	0.71248	M	1.9	0.23486	T	-5.69	0.87300	D	0.458	0.52563	-1.1583	0.00798	T	0.005	0.01833	T	10	0.0019916296	0.00028	T	.	.	.	0.306	0.62729	.	.	0.185906805712	0.18197	0.5196086035143735	0.51883	0.620131027719	0.56338	0.619185328484	0.55614	T	0.073525	0.34717	T	-0.390055	0.02688	T	-0.189244	0.55661	T	0.0993701841965336	0.12288	T	0.945605	0.79272	D	0.21578923	0.44021	0.21654856	0.46286	0.21578923	0.44021	0.21654856	0.46285	-10.372	0.77002	D	.	.	0.198	0.42052	B	.;.	.;.	3.199308	0.43497	21.7	0.99785641736046971	0.87219	0.98323	0.81627	D	AEFBI	0.830953	0.74958	D	0.455707512464366	0.64529	4.709303	0.441788912800956	0.64189	4.668694	0.999999999224715	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	9.257000	0.94725	5.644000	0.49159	0.676000	0.76740	1.000000	0.71638	0.996000	0.32793	0.054000	0.15518	0.0:0.0:1.0:0.0	16.550	0.84320	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	858.98	34	chr9	137478118	.	G	A	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=805;ExcessHet=0.0000;FS=1.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=1.62;SOR=0.928	GT:AD:DP:GQ:PL	0/1:59,39:98:99:873,0,1193	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:106,0,54:162:99:0|1:138023721_AG_A:1832,1951,6433,0,4339,4091:138023721	7	0	2	0
chr10	4965968	4965968	C	T	exonic	AKR1C1	.	nonsynonymous SNV	AKR1C1:NM_001353:exon2:c.C139T:p.R47C,	.	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.873	P	0.483	P	0.024	N	0.878	D	3.655	H	1.6	T	-0.419	T	0.156	T	0.852	1.555	11.15	2.48	1.388	1.946	10.670	0.262	0.00427414024983	.	.	4.945e-05	9.612e-05	0	0	0	4.499e-05	0	0.0001	3.88e-05	6	154602	rs748193660	2.805e-05	2.873e-05	2.859e-05	2.75e-05	0.0003	2.087e-05	1.878e-05	6.092e-05	2.521e-05	5.974e-05	4.472e-05	3.826e-05	0	0	0.0003	2.338e-05	3.312e-05	6.957e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.59928	D	0.025	0.59732	D	0.602	0.39365	P	0.362	0.43260	B	0.023621	0.26410	N	0.313238	0.614507	0.35700	D	3.765	0.95136	H	1.6	0.28604	T	-6.26	0.91956	D	0.896	0.90138	-0.4188	0.71431	T	0.156	0.48738	T	10	0.8860956	0.87938	D	0.004274	0.10341	T	0.262	0.57482	.	.	0.407082143382	0.40323	0.6759258879280716	0.67530	0.192679911477	0.21596	.	.	.	0.198416	0.55539	T	0.0181031	0.54125	T	-0.00911872	0.69742	D	0.838940322399139	0.49240	D	0.892211	0.62852	D	0.3603881	0.57865	0.26395923	0.52209	0.3603881	0.57866	0.26395923	0.52208	-8.232	0.62640	D	.	.	0.217	0.44732	B	.;.	.;.	4.437041	0.68853	25.3	0.9724104116454575	0.32996	0.60823	0.31306	D	AEFBCI	0.602237	0.59418	D	-0.0717022077095819	0.38638	2.266001	-0.266318641194852	0.29216	1.635045	0.999997416465997	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	2.48	2.48	0.29194	3.062000	0.49664	0.395000	0.17934	0.454000	0.21428	1.000000	0.71638	0.000000	0.08366	0.041000	0.14368	0.0:1.0:0.0:0.0	10.670	0.44946	982	0.03397	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1141.98	35	chr10	4965968	.	C	T	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=829;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.70;MQRankSum=0.653;QD=9.14;ReadPosRankSum=-1.742e+00;SOR=0.590	GT:AD:DP:GQ:PL	0/1:75,50:125:99:1156,0,1646	20	0	1	0
chr10	11869742	11869742	C	T	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon4:c.C644T:p.S215F,	.	.	433	1076	12	1	0	14	0.00646353	.	.	701203	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.200	N	1.000	N	1.585	L	2.94	T	-1.098	T	0.059	T	0.219	2.038	12.77	4.36	1.175	3.014	8.478	0.095	.	0.0013	0.000798722	0.0039	0.0007	0.0014	0	0	0.0055	0.0142	0.0030	0.0016171	250	154602	rs202165239	0.0019	0.0019	0.0018	0.0020	0.0141	0.0018	0.0018	0.0116	0.0107	0.0007	0.0015	0.0101	2.623e-05	0.0005	0.0141	0.0017	0.0030	0.0016	0.0015	0.0015	0.0016	0.0015	0.0020	0.0014	0.0013	0.0017	0.0016	0.0008	0	0.0014	0.0069	0	0.0002	0.0068	0.0020	0.0024	0.0017	0.003	0.78490	D	0.019	0.69154	D	1.0	0.90584	D	0.992	0.80445	D	0.199891	0.16627	N	0.577811	1	0.08975	N	1.935	0.51832	L	2.94	0.09728	T	-4.17	0.75456	D	0.363	0.40465	-1.0979	0.04354	T	0.059	0.24834	T	10	0.0041597784	0.00082	T	.	.	.	0.095	0.27398	.	.	0.235038932564	0.23097	0.5359679039050605	0.53521	0.563577242842	0.52783	0.45169839263	0.32176	T	0.161999	0.50924	T	-0.522592	0.00425	T	-0.528991	0.19387	T	0.0587870695192566	0.06975	T	0.678032	0.28700	T	0.11915857	0.28061	0.12752092	0.30696	0.11915857	0.28061	0.12752092	0.30695	-5.742	0.44066	T	.	.	0.18	0.44501	B	.;.;.	.;.;.	2.885363	0.38196	20.7	0.99623531757544137	0.75594	0.59199	0.30849	D	AEFBCI	0.144572	0.26757	N	0.0895070835867669	0.45974	2.845134	-0.0541702527094756	0.37310	2.18283	0.999990852442698	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.584781	0.30282	0	0.699875	0.68795	0	.	.	5.29	4.36	0.51643	3.377000	0.52156	3.797000	0.39853	0.465000	0.21702	0.189000	0.24175	0.995000	0.32472	0.007000	0.07825	0.0:0.7625:0.1562:0.0813	8.478	0.32186	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3458.11	130	chr10	11869742	.	C	T	3458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=1097;ExcessHet=0.1072;FS=0.896;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.458;SOR=0.761	GT:AD:DP:GQ:PL	0/1:81,76:157:99:1684,0,1862	19	0	2	0
chr10	11952138	11952138	T	C	exonic	UPF2	.	nonsynonymous SNV	UPF2:NM_015542:exon15:c.A2962G:p.K988E	.	.	444	1077	1	0	0	1	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.442	B	0.029	B	0.000	D	1.000	D	1.995	M	0.78	T	-0.958	T	0.122	T	0.521	2.829	15.42	5.22	2.101	3.818	15.380	0.138	0.0101012543804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.045	0.49390	D	0.442	0.35927	B	0.029	0.21540	B	0.000001	0.84330	D	0.053599	0.999212	0.81001	D	1.975	0.53506	M	0.78	0.49358	T	-2.15	0.48687	N	0.504	0.53620	-0.9581	0.39534	T	0.122	0.42293	T	10	0.35982198	0.52641	T	0.010101	0.26235	T	0.138	0.37187	0.43	0.47843	0.651350520813	0.64845	0.26331739593153514	0.26244	0.897491480537	0.70508	0.699629426003	0.67090	T	0.14495	0.48183	T	-0.0415993	0.45711	T	-0.297531	0.44985	T	0.684527933597565	0.39995	D	0.967403	0.88196	D	0.45836252	0.64569	0.37356398	0.62540	0.45836252	0.64570	0.37356398	0.62540	-9.292	0.69557	D	.	.	0.377	0.59285	A	.;.;.	.;.;.	3.964255	0.58165	23.9	0.99771481501527071	0.85918	0.93125	0.57392	D	AEFBI	0.415510	0.48434	N	0.125002330975397	0.47630	2.986132	0.239401120904388	0.52048	3.382454	0.991398492457592	0.32474	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	3.784000	0.55122	7.846000	0.70742	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.380	0.74369	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1335.98	33	chr10	11952138	.	T	C	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.309e+00;DP=862;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.73;ReadPosRankSum=0.189;SOR=0.790	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1350,0,1886	20	0	1	0
chr10	18536163	18536163	G	C	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_000724:exon11:c.G1104C:p.M368I	Brugada syndrome 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.944	P	0.938	D	0.000	D	1.000	D	1.45	L	1.09	T	-0.053	T	0.590	D	0.895	3.864	19.63	5.64	2.673	9.869	19.706	0.540	0.0283733843996	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552801377	1.375e-06	1.368e-06	1.368e-06	1.382e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	6.658e-06	6.61e-06	0	1.367e-05	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.22	0.20381	T	0.224	0.39340	T	0.143	0.41631	B	0.119	0.56161	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	-1.47	0.81067	T	-1.8	0.44852	N	0.813	0.90704	-0.0532	0.81139	T	0.590	0.85307	D	10	0.75537765	0.75943	D	0.028373	0.51063	D	0.540	0.80782	0.649	0.78648	0.8788160096	0.87763	0.7833074846426112	0.78281	0.820667099347	0.67152	0.865553855896	0.91927	D	0.169209	0.51650	T	0.346897	0.86298	D	0.260517	0.86118	D	0.787799056788273	0.45545	D	0.562644	0.46414	T	0.35659793	0.57576	0.34408775	0.60111	0.35659793	0.57577	0.34408775	0.60110	-9.718	0.75852	D	0.263918007934929	0.35599	0.870	0.90737	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.801493	0.54779	23.5	0.9932168537594227	0.59393	0.99286	0.93967	D	AEFDGBI	0.925267	0.90454	D	0.342624388631807	0.58351	4.00683	0.496098373966294	0.67732	5.123447	0.999999999770068	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.64	5.64	0.86480	10.003000	0.99689	11.800000	0.96626	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.706	0.96066	952	0.10565	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase/L-type calcium channel beta subunit;.;.;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase/L-type calcium channel beta subunit;.;.;.;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	459.98	35	chr10	18536163	.	G	C	459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e+00;DP=773;ExcessHet=0.0000;FS=2.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.57;ReadPosRankSum=-4.900e-02;SOR=0.402	GT:AD:DP:GQ:PL	0/1:44,26:70:99:474,0,1077	20	0	1	0
chr10	27219780	27219780	C	T	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301252:exon4:c.G241A:p.E81K	.	.	.	.	.	.	.	.	.	.	.	1156406	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.999	D	0.000	D	1.000	D	1.995	M	2.24	T	0.195	D	0.619	D	0.84	4.712	26.2	5.82	2.744	5.237	20.090	0.150	.	.	0.00279553	0.0006	0	0	0.0067	0	0	0	0.0005	0.0005498	85	154602	rs187831118	0.0002	0.0002	0.0002	0.0002	0.0055	0.0002	0.0002	0.0049	0.0047	5.974e-05	0	0	0.0055	0	0	3.597e-06	0.0004	0.0003	0.0004	0.0004	0.0003	0.0005	0.0108	0.0003	0.0003	0.0085	0.0077	2.406e-05	0	0	0	0.0108	0	0	1.47e-05	0.0005	0.0002	0.217	0.55530	T	0.194	0.37589	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.088743	0.999989	0.58761	D	2.46	0.71463	M	-1.77	0.83660	D	-1.61	0.42001	N	0.683	0.68950	0.195	0.85827	D	0.619	0.86572	D	10	0.008734107	0.00198	T	.	.	.	0.150	0.39571	.	.	0.900373628898	0.89938	0.1741435717926579	0.17333	0.570475705165	0.53203	0.61469233036	0.54979	T	0.02164	0.17591	T	-0.0176852	0.49182	T	0.207793	0.83548	D	0.0907421878946646	0.11306	T	0.966403	0.89831	D	0.26098585	0.49156	0.30352083	0.56383	0.2262312	0.45300	0.32600424	0.58510	-6.838	0.54129	T	0.27352174704676635	0.36757	0.315	0.63258	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.897387	0.80468	27.3	0.99931413979516326	0.99387	0.94964	0.62946	D	AEFBI	0.608228	0.59789	D	0.75256814956233	0.83073	7.922528	0.754768603611843	0.86511	8.913314	0.999992713874871	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	5.333000	0.65692	7.540000	0.60069	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.090	0.97813	740	0.53092	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	906.98	35	chr10	27219780	.	C	T	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.290e-01;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=2.41;SOR=0.720	GT:AD:DP:GQ:PL	0/1:51,41:92:99:921,0,1112	20	0	1	0
chr10	38056438	38056438	A	G	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.A2332G:p.I778V	.	.	.	.	.	.	.	.	.	.	.	2358111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.027	B	0.025	B	0.826	N	0.999	N	0	N	3.52	T	-0.939	T	0.013	T	0.038	1.404	10.63	0.685	0.018	1.737	5.199	0.065	0.000693494977257	0.0002	.	9.075e-05	9.63e-05	8.658e-05	0	0	0.0001	0	0	8.41e-05	13	154602	rs143139967	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0.0001	3.828e-05	0	0	0.0002	0.0003	0.0003	1.159e-05	0.0001	0.0001	8.99e-05	0.0001	0.0002	7.575e-05	6.28e-05	9.047e-05	7.011e-05	9.648e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.012	0.54683	D	0.018	0.74150	D	0.01	0.15535	B	0.007	0.12992	B	0.826215	0.06913	N	1.121610	0.999075	0.21650	N	1.295	0.32453	L	3.21	0.07125	T	0.55	0.02721	N	0.043	0.03502	-0.9393	0.42727	T	0.013	0.05081	T	10	0.059818447	0.07250	T	6.93E-4	0.00418	T	0.065	0.18881	.	.	0.0762999501168	0.06990	0.020887726050497886	0.02041	0.0303460491513	0.03137	0.233572721481	0.02243	T	0.005262	0.04708	T	-0.557451	0.00263	T	-0.743682	0.03737	T	0.0232850610274876	0.01057	T	0.0509949	0.00415	T	0.02648288	0.01711	0.03654749	0.03125	0.02648288	0.01711	0.03654749	0.03125	-4.195	0.27627	T	.	.	0.075	0.07460	B	.;.;.;.;.	.;.;.;.;.	0.787271	0.11578	8.168	0.730361656412156	0.10184	0.08222	0.14179	N	AEFBCI	0.157179	0.28265	N	-1.12230406128613	0.06248	0.2870981	-1.11008666556778	0.07507	0.3654136	0.0568773713040206	0.15071	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.92	0.685	0.17173	0.905000	0.28127	-0.520000	0.08695	-0.217000	0.08171	0.027000	0.20232	0.000000	0.08366	0.343000	0.25501	0.8294:0.0:0.1706:0.0	5.199	0.14578	675	0.60470	Zinc finger C2H2-type;Zinc finger C2H2-type;.;.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1117.98	39	chr10	38056438	.	A	G	1117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=919;ExcessHet=0.0000;FS=1.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=0.148;SOR=0.836	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1132,0,1601	20	0	1	0
chr10	42820554	42820554	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon17:c.G2816A:p.R939Q,	.	.	453	1068	1	0	0	1	0.000467946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.996	D	0.914	D	0.000	D	1.000	D	1.48	L	2.35	T	-1.155	T	0.077	T	0.662	4.505	24.2	4.97	2.470	5.473	12.082	0.177	0.0110307179541	.	.	8.515e-06	0	0	0	0	1.552e-05	0	0	6.5e-06	1	154602	rs1044440	1.234e-05	1.3e-05	1.227e-05	1.24e-05	1.529e-05	7.71e-06	6.36e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.529e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.071	0.43531	T	0.996	0.68779	D	0.914	0.64984	D	0.000066	0.52346	D	0.128731	0.999904	0.50806	D	1.53	0.38800	L	2.35	0.16217	T	-2.46	0.53736	N	0.47	0.50598	-1.1555	0.00870	T	0.077	0.30706	T	10	0.47941104	0.60340	T	0.011031	0.28229	T	0.177	0.44549	.	.	0.675300716726	0.67254	0.5205642857640582	0.51979	0.212747302599	0.23780	0.726085960865	0.70934	T	0.050852	0.28712	T	-0.0389782	0.46099	T	-0.293766	0.45379	T	0.924179971218109	0.58521	D	0.89581	0.63671	D	0.14898258	0.33986	0.094158806	0.22275	0.14898258	0.33986	0.094158806	0.22274	-7.433	0.57137	T	.	.	0.153	0.33868	B	.	.	5.505369	0.91630	32	0.9995388088129733	0.99963	0.96011	0.67131	D	AEFBI	0.602207	0.59416	D	0.59734337018288	0.73009	5.896482	0.59821396032564	0.74812	6.201102	0.996455845120292	0.34757	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	5.652000	0.67632	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0798:0.0:0.9202:0.0	12.082	0.52976	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1455.98	37	chr10	42820554	.	G	A	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.110e-01;DP=817;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.93;MQRankSum=-1.225e+00;QD=16.74;ReadPosRankSum=0.329;SOR=0.704	GT:AD:DP:GQ:PL	0/1:29,58:87:99:1470,0,573	20	0	1	0
chr10	47502771	47502771	T	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A1358T:p.K453I,	.	.	448	1070	4	0	0	4	0.00186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412375757	0.0002	0.0008	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	3.047e-05	2.325e-05	0	0.0003	3.837e-05	0.0002	2.578e-05	0.0002	0.0028	0.0002	0.0011	0.0001	0.0003	0.0030	0.0001	0.0001	0.0018	0.0014	5.018e-05	0	0	0	0.0010	9.962e-05	0	0.0001	0	0.0030	0.014	0.53172	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.53	0.14038	T	-6.68	0.92391	D	0.238	0.26837	.	.	.	.	.	.	.	0.15134957	0.28609	T	.	.	.	.	.	.	.	.	.	0.05648739249400953	0.05589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.947805	0.79866	D	.	.	.	.	.	.	.	.	-10.462	0.76628	D	.	.	0.354	0.56851	A	.	.	2.279772	0.29148	18.03	.	.	.	.	.	.	0.235327	0.35795	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.916000	0.48511	2.302000	0.32024	0.161000	0.17719	1.000000	0.71638	0.994000	0.32194	0.009000	0.08673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	76.11	43	chr10	47502771	.	T	A	76.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.112;DP=2031;ExcessHet=0.1072;FS=2.133;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.33;MQRankSum=-4.421e+00;QD=0.48;ReadPosRankSum=-2.281e+00;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,6:48:44:0|1:47502771_T_A:44,0,1724:47502771	19	0	2	0
chr10	48163552	48163552	T	A	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001042512:exon5:c.A690T:p.E230D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.014	B	0.017	B	.	.	1.000	N	0.55	N	3.58	T	-1.040	T	0.098	T	0.132	0.340	5.842	-1.59	-0.551	-0.048	0.907	0.016	.	.	0.000399361	0.0007	0	0	0	0	0	0	0.0161	3.88e-05	6	154602	rs527236490	0.0001	9.039e-05	8.924e-05	0.0001	0.0010	9.194e-05	8.635e-05	0.0008	0.0007	0	0	0	0	0	0	4.936e-05	2.171e-05	0.0010	6.089e-05	5.925e-05	7.925e-05	4.162e-05	0.0009	3.16e-05	2.37e-05	0.0003	0.0002	0	0	6.715e-05	0	0	0	0	5.963e-05	0	0.0009	0.068	0.35726	T	0.151	0.32355	T	0.001	0.07471	B	0.005	0.12992	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	-0.06	0.64264	T	-0.63	0.18459	N	0.07	0.04307	-1.0399	0.17343	T	0.098	0.36651	T	9	0.00519076	0.00113	T	.	.	.	0.016	0.02506	0.12	0.02719	0.206339911435	0.20273	0.14408801365579846	0.14331	1.58527486452	0.88454	0.552466034889	0.46206	T	0.014911	0.12608	T	-0.460519	0.00976	T	-0.536247	0.18666	T	0.0235513781962464	0.01090	T	0.535046	0.17917	T	0.03551511	0.04193	0.04854307	0.07233	0.03551511	0.04193	0.04854307	0.07232	-3.687	0.19127	T	.	.	0.101	0.19235	B	.;.;.	.;.;.	0.356204	0.07293	3.898	0.94297104564700296	0.24603	0.01591	0.05172	N	AEFI	0.049663	0.08602	N	-1.13344821311263	0.06056	0.2777937	-1.17202550774957	0.06381	0.3069543	1.82790937063416E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	-1.59	0.08003	-0.105000	0.10876	0.079000	0.14366	-0.137000	0.12594	0.003000	0.16062	0.000000	0.08366	0.129000	0.19529	0.1694:0.3174:0.1738:0.3394	0.907	0.01206	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	380.98	34	chr10	48163552	.	T	A	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=707;ExcessHet=0.0000;FS=2.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.63;MQRankSum=-2.360e-01;QD=15.24;ReadPosRankSum=-3.050e-01;SOR=0.352	GT:AD:DP:GQ:PL	0/1:10,15:25:99:395,0,251	20	0	1	0
chr10	49132145	49132145	C	T	exonic	FAM170B	.	nonsynonymous SNV	FAM170B:NM_001164484:exon2:c.G320A:p.C107Y,	.	.	434	1014	71	3	0	77	0.0365796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.627	P	0.255	B	0.070	N	1.000	N	1.445	L	0.99	T	-1.058	T	0.050	T	0.231	0.232	5.254	0.695	0.271	0.435	1.061	0.056	.	0.0059	0.0325479	0.0536	0.0125	0.0049	0.0033	0	0.0094	0.0309	0.1208	0.0091331	1412	154602	rs41280539	0.0098	0.0094	0.0066	0.0130	0.1154	0.0096	0.0096	0.1134	0.1126	0.0159	0.0063	0.0220	0.0037	0	0.0479	0.0019	0.0137	0.1154	0.0099	0.0099	0.0080	0.0118	0.1161	0.0094	0.0093	0.1082	0.1050	0.0128	0.0329	0.0054	0.0271	0.0015	9.411e-05	0.0238	0.0023	0.0132	0.1161	0.117	0.28271	T	0.183	0.29153	T	0.627	0.40110	P	0.255	0.39216	B	0.070243	0.21551	N	0.438857	1	0.08975	N	1.89	0.50145	L	0.99	0.41750	T	-1.48	0.36189	N	0.078	0.05287	-1.0581	0.12235	T	0.050	0.21456	T	10	0.0017475188	0.00022	T	.	.	.	0.056	0.15993	.	.	.	.	0.36407451914370714	0.36321	.	.	0.465958029032	0.34127	T	0.011081	0.09929	T	-0.607948	0.00130	T	-0.549335	0.17389	T	0.00768038339090971	0.00089	T	0.523848	0.17156	T	0.07181237	0.15928	0.122336216	0.29510	0.07181237	0.15927	0.122336216	0.29509	-3.745	0.19985	T	.	.	0.210	0.43707	B	.	.	1.883759	0.23925	16.20	0.83146344675201278	0.14567	0.04853	0.10588	N	AEFDBCI	0.045601	0.07476	N	-0.557464624572793	0.20250	1.066141	-0.675040824452409	0.17586	0.9357502	0.99684125480696	0.35056	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.12	0.695	0.17231	0.530000	0.22742	0.576000	0.19656	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.327000	0.25133	0.1854:0.4277:0.1803:0.2066	1.061	0.01500	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.04762	2333.11	72	chr10	49132145	.	C	T	2333.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=1343;ExcessHet=0.1072;FS=1.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=-6.290e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1075,0,1317	19	0	2	0
chr10	51697904	51697918	TGTATACCTCCTCCT	-	exonic	CSTF2T	.	nonframeshift deletion	CSTF2T:NM_015235:exon1:c.1632_1646del:p.G546_G550del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.00798722	0.0023	0.0087	0.0004	0.0154	0	0.0002	0	0.0025	0.0002689	7	26028	rs539295286	0.0013	0.0013	0.0013	0.0013	0.0207	0.0013	0.0012	0.0195	0.0191	0.0105	0.0007	3.842e-05	0.0207	0.0002	0.0016	0.0003	0.0017	0.0025	0.0040	0.0040	0.0040	0.0039	0.0178	0.0037	0.0036	0.0149	0.0138	0.0111	0	0.0005	0	0.0178	9.42e-05	0.0136	0.0004	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1392.94	36	chr10	51697903	.	CTGTATACCTCCTCCT	C	1392.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=-1.790e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:47,37:84:99:1407,0,1829	20	0	1	0
chr10	91460471	91460471	C	T	exonic	HECTD2	.	nonsynonymous SNV	HECTD2:NM_001284274:exon3:c.C313T:p.R105C	.	.	.	.	.	.	.	.	.	.	.	2714000	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.412	B	0.071	B	0.000	D	1.000	D	1.5	L	0.88	T	-0.878	T	0.147	T	0.638	2.002	12.65	5.39	2.502	4.872	12.164	0.123	0.0379393475035	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.064e-05	1.94e-05	3	154602	rs746716912	6.854e-06	8.209e-06	6.819e-06	6.888e-06	0.0009	3.47e-06	2.53e-06	0.0003	0.0002	0	0	0	0	0	0.0009	1.801e-06	0	3.496e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.41637	D	0.086	0.41074	T	0.032	0.20242	B	0.003	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	0.87	0.60485	T	-1.78	0.77143	N	0.549	0.63968	-0.8783	0.49896	T	0.147	0.47237	T	10	0.30337492	0.47869	T	0.037939	0.57921	D	0.123	0.34020	0.291	0.25241	0.221890330934	0.21812	0.5075602979203562	0.50678	0.669254724744	0.59332	0.568578541279	0.48477	T	0.019074	0.22201	T	0.0416591	0.57262	T	-0.177936	0.56714	T	0.434840172529221	0.30239	T	0.945605	0.79272	D	0.18918838	0.40449	0.08638435	0.20010	0.18918838	0.40449	0.08638435	0.20009	-5.665	0.43381	T	.	.	0.151	0.40730	B	.;.;.	.;.;.	4.398443	0.67945	25.2	0.98605365144544677	0.43559	0.91991	0.54704	D	AEFBI	0.582676	0.58220	D	0.041117662038863	0.43736	2.660657	0.17632871720819	0.48553	3.069693	0.384985509690398	0.19994	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.39	5.39	0.77615	4.927000	0.63141	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.9205:0.0:0.0795	12.164	0.53424	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	742.98	33	chr10	91460471	.	C	T	742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.677;DP=805;ExcessHet=0.0000;FS=3.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=1.08;SOR=1.103	GT:AD:DP:GQ:PL	0/1:70,38:108:99:757,0,1576	20	0	1	0
chr10	91924080	91924080	G	A	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon1:c.G4A:p.A2T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.924	P	0.827	P	0.369	N	1.000	D	0.345	N	-2.64	D	-0.249	T	0.667	D	0.453	2.076	12.90	4.87	2.673	3.880	13.714	0.308	0.257560416481	.	.	4.834e-05	0	0	0	0.0008	1.746e-05	0	0	3.23e-05	5	154602	rs768069784	1.716e-05	1.71e-05	1.912e-05	1.518e-05	1.801e-06	1.178e-05	9.96e-06	3e-07	1.1e-07	0	0	0	0	0.0004	0	1.801e-06	4.986e-05	0	2.627e-05	2.626e-05	0	5.377e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0.0004	0	0	0	0	0.338	0.12796	T	0.677	0.06166	T	0.924	0.51285	P	0.827	0.59428	P	0.369350	0.04352	N	1.427800	0.760265	0.34030	D	0.975	0.24501	L	-2.64	0.90147	D	0.06	0.06253	N	0.299	0.33796	-0.2491	0.76384	T	0.667	0.88464	D	10	0.26980904	0.44509	T	0.25756	0.89374	D	0.308	0.62947	0.235	0.16457	0.772278745835	0.77019	0.2640749129952928	0.26320	0.467549981504	0.46130	0.789775013924	0.80409	T	0.084996	0.37402	T	0.0884912	0.63018	D	-0.110665	0.62558	T	0.246657092814819	0.22723	T	0.874613	0.58533	D	0.17055058	0.37636	0.23796746	0.49107	0.17055058	0.37636	0.23796746	0.49106	-3.996	0.23744	T	.	.	0.550	0.66790	A	.	.	3.593751	0.50721	23.0	0.97349783419247471	0.33515	0.86883	0.46264	D	ALL	0.181476	0.30879	N	0.250626386748515	0.53669	3.534872	0.330521481217481	0.57339	3.899435	0.999999999998988	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.87	4.87	0.62877	3.904000	0.56038	11.310000	0.92434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	13.714	0.62163	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	985.98	34	chr10	91924080	.	G	A	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.693e+00;DP=790;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=2.15;SOR=0.601	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1000,0,981	20	0	1	0
chr10	95922076	95922076	G	T	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon3:c.G97T:p.D33Y	.	.	.	.	.	.	.	.	.	0.9999	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.923	D	0.749	N	0.979	N	1.79	L	.	.	-0.935	T	0.204	T	0.385	2.949	15.83	3.35	2.150	2.310	10.501	0.137	.	.	.	4.675e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs751636654	2.541e-05	2.601e-05	2.667e-05	2.413e-05	2.925e-05	1.829e-05	1.614e-05	2.074e-05	1.8e-05	0	0	0	0	2.041e-05	0	2.925e-05	5.378e-05	0	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	0.006	0.61437	D	0.003	0.76473	D	.	.	.	.	.	.	0.749431	0.09712	N	0.849158	0.978627	0.25236	N	.	.	.	.	.	.	-5.71	0.87457	D	0.233	0.26233	-0.9352	0.43364	T	0.204	0.56155	T	9	0.19189572	0.34895	T	0.001619	0.02625	T	0.137	0.36984	0.253	0.19223	0.402326594622	0.39847	.	.	.	.	.	.	.	.	.	.	-0.171004	0.25083	T	-0.28711	0.46072	T	0.653179824352264	0.38599	D	0.535046	0.18749	T	.	.	.	.	.	.	.	.	-2.612	0.06595	T	.	.	0.135	0.33039	B	.;.;.	.;.;.	5.304033	0.89044	29.8	0.99545488689171091	0.70773	0.81712	0.41061	D	AEFI	0.311117	0.41694	N	0.463115120137917	0.64952	4.761668	0.388817219766666	0.60875	4.280148	6.55235120969845E-4	0.07551	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.35	3.35	0.37468	2.331000	0.43552	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	10.501	0.43994	731	0.54177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	36	chr10	95922076	.	G	T	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.197;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.16;SOR=0.636	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1205,0,1067	20	0	1	0
chr10	95968845	95968845	T	G	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon15:c.T1588G:p.F530V,	.	.	655	864	3	0	0	3	0.0017331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0065	0.0027	0	0	0	0.0101	0	0	0.0008603	133	154602	rs181236559	0.0062	0.0047	0.0062	0.0062	0.0067	0.0061	0.0061	0.0065	0.0065	0.0007	0.0013	0.0126	0	0.0026	0.0010	0.0067	0.0059	0.0024	0.0044	0.0044	0.0049	0.0039	0.0070	0.0041	0.0040	0.0065	0.0063	0.0011	0.0330	0.0024	0.0115	0	0.0025	0	0.0070	0.0038	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010572404	0.00235	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0912962	0.37863	T	0.102056	0.77044	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.466838	0.69576	25.4	0.88001636755590185	0.17642	0.94966	0.62953	D	AEFBI	0.611778	0.60010	D	.	.	.	.	.	.	0.0144758488422357	0.12601	0.078448	0.01964	0	0.097471	0.02872	0	0.063197	0.01477	0	0.058706	0.01089	0	.	.	5.39	5.39	0.77615	4.852000	0.62602	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.941	0.57739	714	0.56256	CC2D2A, N-terminal, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1558.98	34	chr10	95968845	.	T	G	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.560e-01;DP=854;ExcessHet=0.0000;FS=1.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-1.277e+00;SOR=0.549	GT:AD:DP:GQ:PL	0/1:75,75:150:99:1573,0,1589	20	0	1	0
chr10	97366167	97366167	C	T	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001284337:exon26:c.G3158A:p.R1053Q	.	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	3.04	M	0.88	T	-0.191	T	0.353	T	0.825	5.112	32	4.28	1.163	7.318	13.697	0.425	.	0.0031	0.00159744	0.0046	0.0019	0.0045	0	0.0133	0.0051	0.0088	0.0031	0.004366	675	154602	rs139305944	0.0049	0.0050	0.0050	0.0049	0.0050	0.0048	0.0048	0.0049	0.0049	0.0008	0.0024	0.0108	0	0.0130	0.0005	0.0050	0.0048	0.0031	0.0039	0.0039	0.0034	0.0045	0.0048	0.0037	0.0036	0.0044	0.0042	0.0010	0.0132	0.0006	0.0072	0	0.0154	0	0.0048	0.0014	0.0029	0.004	0.65419	D	0.005	0.92824	D	1.0	0.90584	D	0.982	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.88	0.46412	T	-3.37	0.66896	D	0.925	0.92901	-0.1909	0.77905	T	0.353	0.71619	T	10	0.01132524	0.00248	T	.	.	.	0.425	0.73299	.	.	0.793235099267	0.79131	0.6268899746400892	0.62621	0.725541865451	0.62459	0.48590940237	0.36872	T	0.371251	0.73565	T	-0.153168	0.27816	T	0.00802426	0.70855	D	0.0336146618345535	0.02573	T	0.977902	0.92154	D	0.51728725	0.68103	0.35235226	0.60814	0.51728725	0.68104	0.35235226	0.60814	-10.074	0.74354	D	.	.	0.593	0.68570	P	.;.;.;.;.	.;.;.;.;.	5.480452	0.91376	32	0.99946734142647831	0.99913	0.96391	0.68909	D	AEFDBCIJ	0.866318	0.78570	D	0.757458941356287	0.83390	8.004957	0.674876147030588	0.80476	7.307179	0.999999999976639	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.19	4.28	0.50183	7.185000	0.77253	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.8451:0.1549:0.0	13.697	0.62065	442	0.79946	.;.;.;.;.	RRP12	Muscle_Skeletal	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1383.98	34	chr10	97366167	.	C	T	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=1058;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=2.42;SOR=0.582	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1398,0,978	20	0	1	0
chr10	101003626	101003627	GG	-	exonic	LZTS2	.	frameshift deletion	LZTS2:NM_001318099:exon3:c.528_529del:p.G177Qfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2109.94	35	chr10	101003625	.	AGG	A	2109.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=840;ExcessHet=0.0000;FS=0.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.75;ReadPosRankSum=-8.250e-01;SOR=0.588	GT:AD:DP:GQ:PL	0/1:70,56:126:99:2124,0,2771	20	0	1	0
chr10	103602846	103602846	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon9:c.G2015A:p.G672E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	1.0	D	1.0	D	0.000	D	1.000	D	1.59	L	0.12	T	-0.619	T	0.334	T	0.856	2.592	14.63	5.07	2.373	7.696	18.514	0.309	0.0680676990307	.	0.000399361	0.0003	0	0	0	0	0	0	0.0022	0.0002523	39	154602	rs531825547	0.0001	0.0001	7.759e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0002	0	0.0001	0.0022	7.877e-05	7.874e-05	6.423e-05	9.398e-05	0.0025	4.493e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.003	0.68238	D	0.066	0.44501	T	1.0	0.90584	D	0.999	0.97372	D	0.000002	0.62929	D	0.104145	0.999984	0.81001	D	1.995	0.54099	M	-0.06	0.63568	T	-1.62	0.38924	N	0.639	0.65930	-0.6189	0.64034	T	0.334	0.70092	T	10	0.053387642	0.05521	T	0.068068	0.70348	D	0.309	0.63055	0.21	0.12781	0.76236827946	0.76020	0.260344945684699	0.25948	1.26890067579	0.82231	0.751176536083	0.74620	T	0.047789	0.27827	T	-0.0689483	0.41495	T	0.122017	0.78369	D	0.251189642343874	0.22926	T	0.951905	0.81545	D	0.34354958	0.56560	0.4569093	0.68437	0.34354958	0.56560	0.4569093	0.68437	-4.305	0.28246	T	.	.	0.309	0.58346	B	.;.	.;.	3.992171	0.58767	24.0	0.99584069888829507	0.73218	0.97783	0.77101	D	AEFGBCI	0.904012	0.85379	D	0.251135197924912	0.53694	3.537309	0.180101385052429	0.48756	3.087453	0.999999999999987	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.07	5.07	0.68106	5.790000	0.68684	7.441000	0.58873	0.524000	0.24156	0.999000	0.42656	1.000000	0.68203	0.216000	0.22352	0.0:1.0:0.0:0.0	18.514	0.90880	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	726.98	35	chr10	103602846	.	C	T	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1260;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=-4.300e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,32:79:99:741,0,1090	20	0	1	0
chr10	114290299	114290299	G	C	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon13:c.G2182C:p.V728L	.	.	437	1079	6	0	0	6	0.00277264	.	.	712176	VWA2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.819	P	0.272	B	0.065	N	0.980	D	.	.	-3.0	D	-0.363	T	0.431	T	0.251	1.433	10.73	-1.47	-0.137	0.312	10.348	0.283	0.0479908215589	.	0.00119808	0.0032	0.0011	0	0	0.0017	0.0068	0.0052	0.0014	0.0012225	189	154602	rs45560935	0.0071	0.0068	0.0072	0.0070	0.0084	0.0070	0.0070	0.0082	0.0082	0.0009	0.0030	0.0077	2.798e-05	0.0012	0.0032	0.0084	0.0065	0.0018	0.0042	0.0042	0.0045	0.0039	0.0073	0.0039	0.0038	0.0067	0.0065	0.0012	0	0.0033	0.0049	0	0.0010	0	0.0073	0.0052	0.0010	0.062	0.36912	T	0.08	0.41913	T	0.819	0.45682	P	0.272	0.39956	B	0.065105	0.21904	N	0.461364	0.999974	0.18612	N	1.425	0.35738	L	-3.0	0.92158	D	-0.77	0.21429	N	0.235	0.26475	-0.3627	0.73183	T	0.431	0.77258	T	9	0.010863394	0.00240	T	0.047991	0.63174	D	0.283	0.60100	.	.	0.256283259241	0.25257	0.5600709737082584	0.55934	.	.	0.328970015049	0.14778	T	0.133824	0.46473	T	-0.332222	0.05945	T	-0.243451	0.50462	T	0.00259579810364478	0.00027	T	0.643636	0.25529	T	0.06709533	0.14499	0.08920413	0.20845	0.06709533	0.14498	0.08920413	0.20844	-3.533	0.16897	T	0.206353611543292	0.27553	0.118	0.24088	B	.	.	0.803261	0.11738	8.316	0.91708217591352614	0.21002	0.22141	0.21645	N	AEFDGBCI	0.294190	0.40463	N	-0.884419530040341	0.11212	0.5398869	-0.998199850672625	0.09825	0.491107	0.0831568253700793	0.15920	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.65	-1.47	0.08312	0.330000	0.19460	-1.448000	0.05416	-0.667000	0.04321	0.023000	0.19925	0.000000	0.08366	0.431000	0.27472	0.5818:0.0:0.4182:0.0	10.348	0.43102	628	0.65206	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	CTB-1144G6.6	Nerve_Tibial	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1048.98	38	chr10	114290299	.	G	C	1048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e-01;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.859;SOR=0.649	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1063,0,945	20	0	1	0
chr10	114843794	114843794	G	C	exonic	FAM160B1	.	nonsynonymous SNV	FAM160B1:NM_001135051:exon7:c.G870C:p.L290F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.996	D	0.000	D	1.000	D	2.215	M	1.14	T	-0.795	T	0.191	T	0.918	3.583	18.25	3.5	1.243	1.761	10.083	0.382	0.0173601911742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.049	0.57587	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999984	0.54805	D	2.835	0.82492	M	1.14	0.38397	T	-3.06	0.63090	D	0.838	0.83371	-0.7954	0.55415	T	0.191	0.54345	T	10	0.91353416	0.90717	D	0.01736	0.39027	T	0.382	0.69946	0.796	0.91657	0.248133497653	0.24425	0.611043452488678	0.61036	0.944440780139	0.72360	0.68622469902	0.65162	T	0.23652	0.60401	T	0.231773	0.76887	D	0.0951501	0.76587	D	0.98065297524046	0.73477	D	0.944805	0.79065	D	0.25616938	0.48655	0.2083563	0.45134	0.25616938	0.48655	0.2083563	0.45133	-9.628	0.72188	D	.	.	0.884	0.81715	P	.;.	.;.	3.770863	0.54161	23.5	0.99892491037754727	0.96589	0.97421	0.74643	D	AEFBI	0.394079	0.47148	N	0.494664052619514	0.66777	4.99426	0.427617215727367	0.63292	4.560032	0.0220720276217538	0.13402	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.39	3.5	0.39181	1.808000	0.38550	3.520000	0.38893	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.216:0.0:0.784:0.0	10.083	0.41574	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1338.98	40	chr10	114843794	.	G	C	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.49;SOR=0.676	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1353,0,1206	20	0	1	0
chr10	117197673	117197673	T	C	exonic	KCNK18	.	nonsynonymous SNV	KCNK18:NM_181840:exon1:c.T185C:p.L62S,	.	.	412	1109	1	0	0	1	0.000450653	.	.	1431201	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.944	P	0.523	P	0.003	N	1.000	N	0.975	L	2.17	T	-1.078	T	0.048	T	0.765	3.082	16.29	4.27	2.153	3.383	11.651	0.204	0.0076744775964	.	.	4.962e-05	0	0.0004	0	0	1.503e-05	0	0	3.88e-05	6	154602	rs753262034	2.189e-05	2.189e-05	2.722e-05	1.65e-05	0.0007	1.584e-05	1.356e-05	0.0005	0.0004	0	0.0007	0	0	0	0	1.799e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	6.547e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.547e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.004	0.74150	D	0.944	0.53183	P	0.523	0.48316	P	0.003071	0.35480	N	0.176999	0.999813	0.20249	N	1.79	0.46772	L	2.17	0.19020	T	-2.06	0.47175	N	0.617	0.63289	-1.0777	0.07801	T	0.048	0.20315	T	10	0.56633765	0.65071	D	0.007674	0.20352	T	0.204	0.49076	0.616	0.75000	0.487701854612	0.48403	0.663403665954034	0.66277	0.318806332412	0.34097	0.508586704731	0.40024	T	0.186221	0.53944	T	-0.250522	0.14034	T	-0.215666	0.53153	T	0.236112028995633	0.22240	T	0.446155	0.12501	T	0.17367041	0.38129	0.20845546	0.45148	0.17367041	0.38128	0.20845546	0.45147	-2.854	0.08691	T	.	.	0.345	0.56218	A	.	.	4.223804	0.63913	24.6	0.99656298880353478	0.77631	0.74959	0.36683	D	AEFDBI	0.142550	0.26502	N	0.00274066321671305	0.41980	2.520881	-0.0522068302754752	0.37394	2.188929	0.0632421796428056	0.15289	0.500041	0.20204	0	0.59043	0.45803	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	4.27	4.27	0.50009	3.067000	0.49706	5.830000	0.50156	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.424000	0.27317	0.0:0.0:0.0:1.0	11.651	0.50548	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	818.98	36	chr10	117197673	.	T	C	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.710e+00;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=1.62;SOR=0.603	GT:AD:DP:GQ:PL	0/1:42,42:84:99:833,0,1002	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,16:108:99:0|1:117341045_A_G:122,0,3151:117341045	4	0	10	7
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,2,58,0:60:99:.:.:2506,1949,1922,189,121,0,2302,1979,193,2247	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,2,58,0:60:99:.:.:2506,1949,1922,189,121,0,2302,1979,193,2247	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,105:185:99:0|1:124989533_G_A:4139,0,2932:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:90,94:184:99:3138,0,2808	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:98,78:176:99:1680,0,2878	2	0	13	6
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V	.	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.194	B	0.09	B	0.000	D	0.999	D	0.55	N	-1.7	D	-0.359	T	0.375	T	0.715	2.521	14.39	5.12	2.665	5.242	16.928	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2443.96	41	chr10	124989594	.	G	A	2443.96	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.716e+00;DP=2367;ExcessHet=2.5830;FS=12.019;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.211;MQ=55.23;MQRankSum=-7.172e+00;QD=2.31;ReadPosRankSum=-2.830e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,50:148:99:0|1:124989594_G_A:1685,0,3943:124989594	12	0	7	2
chr10	124989627	124989627	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.G1433A:p.G478D	.	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.889	P	0.000	D	1.000	D	1.245	L	-1.74	D	0.393	D	0.651	D	0.954	3.383	17.41	5.12	2.665	3.457	18.759	0.633	.	.	.	0.0174	0.0503	0.0155	0.0143	0.0191	0.0155	0.0156	0.0054	3.84e-05	1	26028	rs756741005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.78490	D	0.311	0.58089	T	0.161	0.56581	B	0.15	0.63100	B	0.000027	0.55875	D	0.119212	0.999998	0.58761	D	1.59	0.40313	L	-1.74	0.84919	D	-2.96	0.61722	D	0.248	0.54845	0.393	0.88992	D	0.651	0.87858	D	10	0.009252697	0.00209	T	.	.	.	0.633	0.85924	.	.	.	.	0.8531506460556879	0.85277	2.23748090164	0.95990	0.790876150131	0.80577	T	0.271821	0.64418	T	0.385229	0.89043	D	0.315578	0.88905	D	0.110486913242678	0.13473	T	0.878612	0.59406	D	0.52087295	0.68309	0.5648171	0.74813	0.52087295	0.68310	0.5648171	0.74814	-8.377	0.68810	D	.	.	0.795	0.77066	P	.;.;.;.;.;.	.;.;.;.;.;.	5.178409	0.86818	29.0	0.99443947313824621	0.64921	0.87848	0.47530	D	AEFDGBCI	0.627834	0.61015	D	0.286557793114462	0.55466	3.710699	0.387575918321906	0.60798	4.271533	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	2.340000	0.43631	7.687000	0.65600	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.759	0.91807	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	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	254.72	41	chr10	124989627	.	C	T	254.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=1200;ExcessHet=0.0000;FS=3.171;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=55.01;MQRankSum=-6.779e+00;QD=2.11;ReadPosRankSum=-1.485e+00;SOR=1.069	GT:AD:DP:GQ:PL	0/1:100,21:121:99:268,0,3117	18	0	1	2
chr10	124989642	124989642	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.G1418A:p.G473E	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.982	D	0.000	D	1.000	D	1.65	L	-1.75	D	0.389	D	0.695	D	0.871	4.461	23.8	5.12	2.665	4.426	18.759	0.611	0.07707971714	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1048828483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.78490	D	0.018	0.67890	D	0.991	0.90584	D	0.792	0.75477	P	0.000101	0.50451	D	0.176385	1	0.81001	D	2.08	0.57402	M	-1.75	0.84701	D	-3.6	0.69357	D	0.659	0.80278	0.389	0.88933	D	0.695	0.89492	D	10	0.67974395	0.71207	D	0.07708	0.72685	D	0.611	0.84773	0.365	0.37199	0.91561547213	0.91476	0.7843493184838983	0.78385	2.12843697498	0.95139	0.786594867706	0.79925	T	0.54921	0.84705	D	0.367818	0.87864	D	0.290568	0.87709	D	0.984691321849823	0.75919	D	0.910909	0.68443	D	0.7335251	0.79923	0.69394624	0.81984	0.7335251	0.79925	0.69394624	0.81985	-8.712	0.71362	D	.	.	0.791	0.76874	P	.;.;.;.;.;.	.;.;.;.;.;.	4.756883	0.76871	26.6	0.99781115016290312	0.86780	0.91532	0.53727	D	AEFDGBCIJ	0.796139	0.72336	D	0.62297357779019	0.74631	6.165	0.626955353454448	0.76904	6.577776	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	4.646000	0.61108	4.866000	0.45518	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.759	0.91807	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	334.72	41	chr10	124989642	.	C	T	334.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=1211;ExcessHet=0.0000;FS=1.012;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.08;MQRankSum=-6.175e+00;QD=2.86;ReadPosRankSum=-2.569e+00;SOR=0.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,16:117:99:0|1:124989641_C_G:348,0,4152:124989641	18	0	1	2
chr10	124989648	124989648	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.T1412G:p.M471R	.	.	425	1093	3	1	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.959	D	0.628	P	0.000	D	1.000	D	0.345	N	-1.61	D	-0.049	T	0.421	T	0.849	2.548	14.48	5.12	2.153	8.651	15.094	0.574	0.0174957163766	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs909045814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.186	0.46632	T	0.017	0.55135	B	0.053	0.51677	B	0.000071	0.52346	D	0.192375	0.999969	0.52935	D	0.895	0.22405	L	-1.61	0.82897	D	-2.23	0.50012	N	0.635	0.72120	-0.0486	0.81236	T	0.421	0.76630	T	10	0.59502995	0.66593	D	0.017496	0.39223	T	0.574	0.82742	0.265	0.21103	0.967162653852	0.96681	0.8635126747086387	0.86315	2.117318429	0.94984	0.66468167305	0.62079	T	0.226225	0.59119	T	0.349441	0.86470	D	0.264172	0.86291	D	0.870904505252838	0.52080	D	0.59464	0.23746	T	0.7757546	0.82394	0.6730268	0.80808	0.7757546	0.82395	0.6730268	0.80809	-5.558	0.47338	T	.	.	0.640	0.70527	P	.;.;.;.;.;.	.;.;.;.;.;.	5.085184	0.84888	28.4	0.97884800017334472	0.36628	0.95835	0.66357	D	AEFDGBCIJ	0.939906	0.94113	D	0.217206954155925	0.52034	3.380147	0.373018425192579	0.59905	4.172661	0.999999999999634	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	8.840000	0.91757	6.143000	0.54081	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.094	0.71887	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	352.72	41	chr10	124989648	.	A	C	352.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=1217;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.76;MQRankSum=-7.193e+00;QD=3.18;ReadPosRankSum=-3.257e+00;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,16:111:99:0|1:124989641_C_G:366,0,3926:124989641	18	0	1	2
chr10	124989657	124989657	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1403delC:p.P468Lfs*14	.	.	425	1094	2	1	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	344.94	41	chr10	124989656	.	AG	A	344.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=1042;ExcessHet=0.0000;FS=1.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.73;MQRankSum=-8.727e+00;QD=3.29;ReadPosRankSum=-3.913e+00;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,15:105:99:0|1:124989641_C_G:359,0,3688:124989641	20	0	1	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,22:106:99:0|1:124994489_T_G:671,0,3441:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,26:117:99:0|1:124994489_T_G:812,0,3723:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,26:115:99:0|1:124994489_T_G:818,0,3639:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,53:159:99:0|1:124994523_G_A:1846,0,4070:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:113,56:169:99:992,0,2644	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:110,66:176:99:1235,0,2636	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,70:181:99:0|1:124994577_C_A:2605,0,4252:124994577	0	0	21	0
chr10	125002983	125002983	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A539C:p.D180A	.	.	450	846	218	8	0	234	0.121495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.926	D	0.000	D	1.000	D	3.07	M	-3.5	D	1.048	D	0.913	D	0.987	3.567	18.18	4.68	1.879	8.040	14.428	0.948	0.596276217237	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796433756	6.844e-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	0.006	0.70582	D	0.997	0.70673	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-3.5	0.94658	D	-7.18	0.94786	D	0.995	0.99954	1.048	0.98073	D	0.913	0.97116	D	10	0.98108125	0.98114	D	0.596276	0.96430	D	0.948	0.98990	0.847	0.95025	0.985246513857	0.98508	0.9901502538290843	0.99010	2.21030123888	0.95757	0.827131271362	0.86123	D	0.80395	0.95030	D	0.531082	0.95186	D	0.525086	0.95114	D	0.997385203838348	0.91430	D	0.69753	0.30746	T	0.9735778	0.98583	0.92888653	0.97017	0.9735778	0.98583	0.92888653	0.97018	-12.406	0.90114	D	.	.	0.981	0.91385	P	.;.;.;.;.;.	.;.;.;.;.;.	5.332404	0.89486	30	0.99357061535026048	0.60820	0.97620	0.75953	D	AEFDGBCI	0.936879	0.93385	D	0.65147023026997	0.76465	6.491341	0.533343637265574	0.70246	5.477253	0.999999999999824	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	8.017000	0.88732	7.781000	0.68671	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.428	0.66804	926	0.17793	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	390.62	94	chr10	125002983	.	T	G	390.62	.	AC=1;AF=0.038;AN=26;BaseQRankSum=0.285;DP=2387;ExcessHet=0.0000;FS=5.481;InbreedingCoeff=-0.1351;MLEAC=1;MLEAF=0.038;MQ=54.99;MQRankSum=-5.501e+00;QD=6.40;ReadPosRankSum=-6.530e-01;SOR=1.132	GT:AD:DP:GQ:PL	0/1:40,21:61:99:401,0,1367	12	0	1	8
chr10	125003003	125003003	-	GCCA	exonic	CTBP2	.	frameshift insertion	CTBP2:NM_001363508:exon3:c.518_519insTGGC:p.S174Gfs*5	.	.	408	1041	73	0	0	73	0.0338747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	268.07	94	chr10	125003003	.	G	GGCCA	268.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.970e-01;DP=2467;ExcessHet=0.1072;FS=1.838;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.70;MQRankSum=-4.479e+00;QD=1.48;ReadPosRankSum=2.08;SOR=0.611	GT:AD:DP:GQ:PL	0/1:56,10:66:64:64,0,2094	19	0	2	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.328	B	0.722	P	0.000	D	1.000	D	1.225	L	0.49	T	-0.750	T	0.204	T	0.848	1.968	12.54	-0.385	0.050	-0.041	9.404	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,13,10:74:94:.:.:551,0,1942,94,1755,2078	9	0	4	7
chr10	125003007	125003010	ATCC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon3:c.512_515del:p.R171Qfs*155	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,13,10:74:94:.:.:551,0,1942,94,1755,2078	9	0	4	7
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.269	B	0.279	B	0.000	D	1.000	D	0.59	N	0.75	T	-0.924	T	0.114	T	0.644	1.971	12.55	4.94	1.998	8.040	14.902	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,13,10:72:94:0|1:125003008_T_C:557,0,1898,94,1705,1994:125003008	9	0	4	7
chr10	125003008	125003008	T	0	exonic	CTBP2	.	.	.	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,13,10:72:94:0|1:125003008_T_C:557,0,1898,94,1705,1994:125003008	9	0	4	7
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.955	D	0.000	D	1.000	D	2.595	M	0.74	T	-0.368	T	0.302	T	0.95	3.888	19.76	4.04	1.230	7.818	13.592	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,13,10:72:94:0|1:125003008_T_C:557,0,1898,94,1705,1994:125003008	8	0	5	7
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,13,10:72:94:0|1:125003008_T_C:557,0,1898,94,1705,1994:125003008	8	0	5	7
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N	.	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.89	P	0.000	N	1.000	D	1.515	L	0.72	T	-0.828	T	0.177	T	0.518	2.828	15.42	4.03	1.204	2.555	6.007	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	1327.89	96	chr10	125003036	.	C	A	1327.89	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-2.315e+00;DP=2688;ExcessHet=1.1607;FS=7.390;InbreedingCoeff=-0.2539;MLEAC=7;MLEAF=0.250;MQ=56.90;MQRankSum=-6.218e+00;QD=2.82;ReadPosRankSum=1.58;SOR=1.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,22:74:99:0|1:125003036_C_A:767,0,2117:125003036	9	0	5	7
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S	.	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.041	B	0.069	B	0.000	N	0.999	D	1.21	L	-1.93	D	-0.330	T	0.453	T	0.622	2.408	14.01	3.79	0.824	5.018	11.226	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1345.64	103	chr10	125003062	.	T	A	1345.64	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.762e+00;DP=2793;ExcessHet=1.7912;FS=10.332;InbreedingCoeff=-0.3044;MLEAC=8;MLEAF=0.286;MQ=57.06;MQRankSum=-6.687e+00;QD=2.31;ReadPosRankSum=1.25;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,20:82:99:0|1:125003062_T_A:649,0,2543:125003062	8	0	6	7
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F	.	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.946	D	0.000	N	1.000	D	1.455	L	0.6	T	-0.651	T	0.246	T	0.862	4.563	24.7	3.79	0.824	8.033	11.226	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1343.45	102	chr10	125003065	.	T	A	1343.45	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.729e+00;DP=2798;ExcessHet=1.7912;FS=10.427;InbreedingCoeff=-0.3097;MLEAC=8;MLEAF=0.286;MQ=57.07;MQRankSum=-6.630e+00;QD=2.30;ReadPosRankSum=1.20;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,20:80:99:0|1:125003062_T_A:655,0,2459:125003062	8	0	6	7
chr10	125003091	125003091	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.C431T:p.A144V	.	.	423	874	217	8	0	233	0.117617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.948	D	0.000	D	1.000	D	1.525	L	0.64	T	-0.734	T	0.234	T	0.93	3.734	18.96	4.68	2.317	9.869	17.956	0.428	0.0396646121041	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3198935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.04	0.53788	D	0.997	0.70673	D	0.9	0.67350	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.64	0.52867	T	-3.59	0.72353	D	0.83	0.86404	-0.7342	0.58751	T	0.234	0.60063	T	10	0.85133255	0.84313	D	0.039665	0.58940	D	0.428	0.73517	0.615	0.74884	0.805301142055	0.80348	0.9739020719154817	0.97380	1.79913636405	0.91619	0.833252906799	0.87062	D	0.558733	0.85191	D	0.278003	0.81145	D	0.161556	0.80903	D	0.981222689151764	0.73791	D	0.836316	0.50742	T	0.71443444	0.78852	0.29747087	0.55780	0.71443444	0.78854	0.29747087	0.55779	-11.965	0.84680	D	.	.	0.991	0.94980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.805965	0.78137	26.8	0.99882348519737318	0.95813	0.98748	0.86347	D	AEFDGBCI	0.955612	0.97357	D	0.457477404135832	0.64629	4.721769	0.367611348405123	0.59576	4.136584	1.0	0.98316	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	10.003000	0.99689	11.683000	0.94248	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.956	0.88988	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	231.67	104	chr10	125003091	.	G	A	231.67	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.91;DP=2468;ExcessHet=0.0000;FS=2.411;InbreedingCoeff=-0.1370;MLEAC=1;MLEAF=0.038;MQ=56.54;MQRankSum=-5.782e+00;QD=3.22;ReadPosRankSum=-2.481e+00;SOR=1.067	GT:AD:DP:GQ:PL	0/1:57,15:72:99:242,0,1656	12	0	1	8
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E	.	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.34	B	0.426	B	0.000	D	1.000	D	2.07	M	0.84	T	-0.808	T	0.168	T	0.718	2.749	15.15	-4.33	-0.867	-0.788	14.997	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	355.62	71	chr10	125003368	.	G	C	355.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.397;DP=1891;ExcessHet=0.6776;FS=7.526;InbreedingCoeff=-0.1824;MLEAC=5;MLEAF=0.156;MQ=59.18;MQRankSum=-9.875e+00;QD=0.84;ReadPosRankSum=-2.533e+00;SOR=2.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,15:153:99:0|1:125003365_C_A:154,0,5571:125003365	12	0	4	5
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17	.	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1000.95	71	chr10	125003381	.	AC	A	1000.95	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.186e+00;DP=1911;ExcessHet=2.5830;FS=6.426;InbreedingCoeff=-0.2047;MLEAC=7;MLEAF=0.167;MQ=59.12;MQRankSum=-9.613e+00;QD=1.33;ReadPosRankSum=-1.280e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,21:166:99:0|1:125003381_AC_A:405,0,6004:125003381	14	0	7	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D	.	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.421	B	0.528	P	0.000	D	1.000	D	2.77	M	0.68	T	-0.558	T	0.255	T	0.827	4.931	28.6	3.8	1.098	3.317	13.510	0.261	0.0418347474684	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs74705267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.088	0.62352	T	0.043	0.35387	B	0.17	0.48482	B	0.000054	0.53742	D	0.195283	0.999999	0.58761	D	0.98	0.24916	L	0.68	0.51952	T	-2.71	0.59710	D	0.686	0.73555	-0.5581	0.66476	T	0.255	0.62530	T	10	0.56158	0.64817	D	0.041835	0.60142	D	0.261	0.57352	0.434	0.48500	0.881554203603	0.88039	0.972171025341375	0.97206	1.7143308071	0.90477	0.748663306236	0.74250	T	0.62925	0.88488	D	0.139244	0.68253	D	-0.0377626	0.67852	D	0.957904279232025	0.65131	D	0.844016	0.52137	T	0.77675706	0.82455	0.4746194	0.69552	0.77675706	0.82456	0.4746194	0.69552	-14.274	0.93913	D	.	.	0.998	0.98268	P	.;.;.;.;.;.	.;.;.;.;.;.	4.166684	0.62622	24.5	0.99797317996392532	0.88283	0.94867	0.62605	D	AEFDGBHCI	0.781566	0.71311	D	0.172151716873866	0.49864	3.182254	0.205790313476848	0.50167	3.211761	0.999999999997825	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.8	0.42887	5.029000	0.63903	1.014000	0.23354	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9225:0.0:0.0775	13.510	0.60961	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	64.02	71	chr10	125003410	.	C	G	64.02	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.960e+00;DP=1870;ExcessHet=0.1072;FS=11.938;InbreedingCoeff=-0.1198;MLEAC=2;MLEAF=0.063;MQ=59.00;MQRankSum=-9.078e+00;QD=0.25;ReadPosRankSum=1.71;SOR=1.794	GT:AD:DP:GQ:PL	0/1:145,23:168:62:62,0,3581	14	0	2	5
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V	.	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.971	D	0.000	D	1.000	D	1.955	M	0.56	T	-0.711	T	0.257	T	0.772	1.617	11.36	1.83	0.176	2.720	9.074	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	1450.32	72	chr10	125003448	.	G	C	1450.32	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-9.980e-01;DP=1678;ExcessHet=3.5521;FS=10.491;InbreedingCoeff=-0.3485;MLEAC=10;MLEAF=0.313;MQ=59.04;MQRankSum=-7.966e+00;QD=2.01;ReadPosRankSum=1.23;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,23:152:99:0|1:125003425_G_C:577,0,5347:125003425	8	0	8	5
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L	.	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.955	M	0.4	T	-0.394	T	0.310	T	0.845	3.342	17.25	3.81	1.107	9.869	15.129	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.1	67	chr10	125003450	.	G	A	661.1	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.342e+00;DP=1603;ExcessHet=2.5830;FS=2.196;InbreedingCoeff=-0.2922;MLEAC=8;MLEAF=0.250;MQ=59.24;MQRankSum=-8.454e+00;QD=1.06;ReadPosRankSum=0.993;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,13:139:99:0|1:125003425_G_C:167,0,5252:125003425	9	0	7	5
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19	.	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	626.51	67	chr10	125003453	.	CG	C	626.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.108e+00;DP=1598;ExcessHet=2.5830;FS=2.198;InbreedingCoeff=-0.1999;MLEAC=7;MLEAF=0.167;MQ=59.25;MQRankSum=-8.630e+00;QD=0.99;ReadPosRankSum=0.814;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,13:142:99:0|1:125003425_G_C:158,0,5378:125003425	14	0	7	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N	.	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.926	P	0.711	P	0.000	D	1.000	D	1.24	L	-1.65	D	0.171	D	0.548	D	0.535	3.112	16.40	4.72	2.350	9.476	18.050	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.11	63	chr10	125003460	.	G	T	661.11	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.362e+00;DP=1555;ExcessHet=2.5830;FS=3.478;InbreedingCoeff=-0.2923;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.513e+00;QD=1.08;ReadPosRankSum=0.369;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,13:136:99:0|1:125003425_G_C:176,0,5126:125003425	9	0	7	5
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T	.	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.766	P	0.000	D	1.000	D	1.67	L	-2.02	D	0.518	D	0.688	D	0.829	3.996	20.5	4.72	2.350	9.750	18.050	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	704.07	63	chr10	125003466	.	G	T	704.07	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-1.194e+00;DP=1529;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2613;MLEAC=8;MLEAF=0.222;MQ=59.27;MQRankSum=-8.513e+00;QD=1.19;ReadPosRankSum=0.161;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,13:135:99:0|1:125003425_G_C:179,0,5073:125003425	11	0	7	3
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V	.	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.674	P	0.000	D	1.000	D	1.795	L	-2.03	D	0.404	D	0.665	D	0.926	3.651	18.56	4.72	2.350	5.914	18.050	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	682.08	63	chr10	125003468	.	C	A	682.08	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-9.480e-01;DP=1516;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2727;MLEAC=8;MLEAF=0.235;MQ=59.27;MQRankSum=-8.454e+00;QD=1.16;ReadPosRankSum=-3.400e-02;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,13:133:99:0|1:125003425_G_C:185,0,4969:125003425	10	0	7	4
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K	.	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.936	P	0.548	P	0.000	N	1.000	D	1.795	L	-1.74	D	-0.145	T	0.509	D	0.535	2.434	14.10	2.83	0.513	1.589	5.756	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	672.89	63	chr10	125003470	.	G	T	672.89	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.170e-01;DP=1506;ExcessHet=2.5830;FS=6.678;InbreedingCoeff=-0.2894;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.448e+00;QD=1.17;ReadPosRankSum=-2.280e-01;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,13:132:99:0|1:125003425_G_C:188,0,4927:125003425	9	0	7	5
chr10	125027456	125027456	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.C304G:p.R102G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.712	P	0.324	B	0.097	N	1.000	D	.	.	-3.56	D	0.617	D	0.770	D	0.186	1.872	12.22	3.77	1.298	4.681	12.990	0.288	0.116373301519	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1006155042	2.052e-06	2.052e-06	0	4.125e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	0	2.319e-05	6.572e-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	0.001	0.78490	D	0.058	0.46182	T	0.712	0.42110	P	0.324	0.41853	B	0.096695	0.20063	N	0.467443	0.999998	0.58761	D	.	.	.	-3.56	0.94869	D	-1.28	0.32185	N	0.597	0.61596	0.617	0.92124	D	0.770	0.92164	D	9	0.5918185	0.66423	D	0.116373	0.79584	D	0.288	0.60691	0.388	0.40951	0.636924601929	0.63393	0.20390693612027488	0.20307	0.17519669607	0.19726	0.35252571106	0.18293	T	.	.	.	0.0698074	0.60826	D	-0.137503	0.60333	T	0.987030446529388	0.77612	D	0.513749	0.16498	T	.	.	.	.	.	.	.	.	-3.304	0.13789	T	.	.	0.081	0.08081	B	.	.	2.827871	0.37270	20.5	0.98879162432663714	0.47788	0.86418	0.45694	D	AEFBCI	0.584333	0.58320	D	0.0530078823376662	0.44281	2.705006	0.02358062451027	0.40811	2.441683	0.999999431778422	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.37387	0.06007	3	0.491896	0.07777	0	.	.	4.7	3.77	0.42499	5.051000	0.64074	7.399000	0.58563	0.676000	0.76740	0.991000	0.37257	0.999000	0.35428	0.291000	0.24285	0.0:0.0:0.7069:0.2931	12.990	0.58015	919	0.19497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	903.98	42	chr10	125027456	.	G	C	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.662;DP=921;ExcessHet=0.0000;FS=1.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-5.890e-01;SOR=1.005	GT:AD:DP:GQ:PL	0/1:40,42:82:99:918,0,810	20	0	1	0
chr10	131311544	131311544	G	A	exonic	TCERG1L	.	nonsynonymous SNV	TCERG1L:NM_174937:exon1:c.C92T:p.A31V,	.	.	437	1072	12	1	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.573	P	0.053	B	.	.	0.920	N	0.695	N	1.48	T	-1.068	T	0.040	T	0.316	2.786	15.28	2.66	1.354	1.888	8.723	0.038	0.0103016307603	.	0.000399361	0	0	.	0	.	0	.	0	0.0008837	23	26028	rs528370146	0.0018	0.0016	0.0018	0.0018	0.0140	0.0017	0.0017	0.0104	0.0092	0.0004	0.0040	0.0026	0	0	0.0140	0.0018	0.0023	0.0009	0.0019	0.0020	0.0021	0.0018	0.0055	0.0018	0.0017	0.0045	0.0042	0.0004	0	0.0055	0.0021	0	0	0.0069	0.0026	0.0034	0.0006	0.003	0.68238	D	0.036	0.52060	D	0.573	0.38659	P	0.053	0.25678	B	.	.	.	.	0.920061	0.27314	N	1.67	0.42885	L	1.48	0.31731	T	-0.95	0.25332	N	0.167	0.17691	-1.0680	0.09858	T	0.040	0.17277	T	9	0.00785923	0.00178	T	0.010302	0.26676	T	0.038	0.09825	.	.	0.487983534966	0.48431	0.2656238514096568	0.26475	0.104354662582	0.11803	0.895799040794	0.95960	D	0.005823	0.05268	T	-0.473914	0.00804	T	-0.456257	0.27007	T	0.111455697579555	0.13573	T	0.483152	0.14651	T	0.12336879	0.28970	0.31764078	0.57738	0.12336879	0.28969	0.31764078	0.57737	-4.689	0.33270	T	.	.	0.149	0.33016	B	.	.	3.143727	0.42526	21.6	0.99770446606773044	0.85834	0.11268	0.16521	N	AEFDBCI	0.044133	0.07064	N	-0.401997479963527	0.25399	1.378473	-0.402560823985777	0.24921	1.367502	0.999263294661866	0.38940	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.562822	0.20929	0	.	.	2.66	2.66	0.30672	1.031000	0.29773	7.732000	0.67763	0.358000	0.20042	0.024000	0.20007	1.000000	0.68203	0.103000	0.18424	0.0:0.0:1.0:0.0	8.723	0.33611	972	0.05671	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	35	chr10	131311544	.	G	A	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.159;DP=539;ExcessHet=0.0000;FS=3.875;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-1.890e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1119,0,848	20	0	1	0
chr10	132349040	132349040	C	T	exonic	LRRC27	.	nonsynonymous SNV	LRRC27:NM_001143759:exon7:c.C1004T:p.A335V,	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.921	P	0.147	B	.	.	1.000	N	.	.	2.23	T	-1.014	T	0.023	T	0.052	0.732	7.889	0.472	0.497	-0.977	.	0.032	0.000811324249157	.	0.000998403	0.0015	0.0002	0	0	0	9.225e-05	0.0048	0.0097	0.0008667	134	154602	rs200609882	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0005	0.0070	0.0068	0	0	0	0	0	0.0005	5.413e-05	0.0006	0.0075	0.0003	0.0003	7.711e-05	0.0006	0.0091	0.0002	0.0002	0.0070	0.0062	4.816e-05	0	0	0	0	0	0	0	0.0005	0.0091	0.246	0.17353	T	0.546	0.09555	T	0.921	0.51088	P	0.147	0.34014	B	.	.	.	.	1	0.08975	N	.	.	.	2.23	0.18083	T	-0.3	0.11913	N	0.134	0.13055	-1.0143	0.25561	T	0.023	0.09832	T	7	0.0052143037	0.00113	T	8.11E-4	0.00649	T	0.032	0.07718	0.162	0.06618	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.741107	0.00020	T	-0.833181	0.01207	T	0.00947545713807323	0.00122	T	0.354665	0.08016	T	.	.	.	.	.	.	.	.	-3.294	0.13660	T	.	.	0.082	0.08609	B	.	.	-0.114436	0.03555	0.685	0.93581291835216007	0.23428	0.00170	0.01006	N	AEFDBI	0.025769	0.01823	N	-0.743469303993756	0.14812	0.7410047	-0.979979032468418	0.10236	0.514204	0.00177229323147523	0.08872	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	0.472	0.472	0.15969	-1.973000	0.01591	-3.090000	0.03070	-1.248000	0.01305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0.02381	582.98	35	chr10	132349040	.	C	T	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.415;DP=784;ExcessHet=0.0000;FS=1.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.382;SOR=0.484	GT:AD:DP:GQ:PL	0/1:59,31:90:99:597,0,1265	20	0	1	0
chr10	132922556	132922556	G	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1409A:p.T470N,	.	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	.	.	.	.	0.752	N	1.000	N	.	.	3.04	T	-1.010	T	0.027	T	0.022	-2.182	0.005	-0.649	-0.226	0.165	6.353	0.029	.	.	0.00978435	0.0177	0.0037	0.0146	0	0	0.0107	0.0195	0.0251	0.0033311	515	154602	rs41301115	0.0105	0.0100	0.0099	0.0111	0.0279	0.0103	0.0103	0.0269	0.0266	0.0013	0.0072	0.0096	5.598e-05	0.0070	0.0101	0.0101	0.0106	0.0279	0.0079	0.0079	0.0072	0.0087	0.0296	0.0076	0.0074	0.0256	0.0241	0.0015	0	0.0092	0.0104	0	0.0090	0.0068	0.0105	0.0066	0.0296	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.752325	0.09690	N	0.860345	1	0.08975	N	.	.	.	3.04	0.08810	T	1.45	0.00785	N	0.025	0.00485	-1.0095	0.27074	T	0.027	0.11441	T	7	0.0035613477	0.00064	T	.	.	.	0.029	0.06676	.	.	.	.	0.09840789490100733	0.09771	0.124680466888	0.14042	0.364000618458	0.19967	T	0.003978	0.03393	T	-0.770917	0.00013	T	-0.859196	0.00851	T	0.00565307856650111	0.00062	T	0.393561	0.09813	T	0.03946856	0.05456	0.04422583	0.05683	0.03946856	0.05456	0.04422583	0.05683	-4.835	0.34997	T	.	.	0.065	0.02038	B	.	.	-0.983138	0.00795	0.026	0.20066372410375613	0.00705	0.03741	0.09041	N	AEFDBI	0.044977	0.07303	N	-0.843404712010184	0.12212	0.593932	-0.952104417135243	0.10874	0.5505145	0.0965582444146482	0.16256	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.28	-0.649	0.10885	-0.188000	0.09638	-1.355000	0.05637	-0.854000	0.02687	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.1079:0.5276:0.3645	6.353	0.20592	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2860.11	37	chr10	132922556	.	G	T	2860.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.69;DP=1339;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.060;SOR=0.707	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1505,0,2580	19	0	2	0
chr10	133270502	133270503	AT	-	exonic	ADAM8	.	frameshift deletion	ADAM8:NM_001164490:exon15:c.1525_1526del:p.M509Vfs*35	.	.	415	1092	15	0	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.000798722	0.0025	0.0012	0.0008	0.0022	0.0005	0.0038	0.0023	0.0005	0.0003842	10	26028	rs375995290	0.0025	0.0025	0.0025	0.0025	0.0061	0.0024	0.0024	0.0045	0.0039	0.0011	0.0012	0.0144	0.0010	0.0006	0.0061	0.0025	0.0032	0.0007	0.0026	0.0026	0.0028	0.0023	0.0032	0.0024	0.0023	0.0029	0.0027	0.0011	0.0186	0.0023	0.0127	0.0025	0.0007	0.0102	0.0032	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1511.94	35	chr10	133270501	.	CAT	C	1511.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.580e-01;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.61;ReadPosRankSum=-9.720e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/1:51,40:91:99:1526,0,2021	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/2:296,30,52:378:99:1183,856,13561,0,11054,12109	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:630,0,0,76:706:99:0|1:1017458_AGG_A:1259,2806,29017,2806,29017,29017,0,26358,26358,26130:1017458	0	0	4	1
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	810.88	546	chr11	1017465	.	C	A,*	810.88	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.140e-01;DP=13242;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,6;MLEAF=0.059,0.176;MQ=55.99;MQRankSum=-7.141e+00;QD=0.16;ReadPosRankSum=-2.532e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:630,0,76:706:99:0|1:1017458_AGG_A:1259,2806,29017,0,26358,26130:1017458	10	0	2	4
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:630,0,0,76:706:99:0|1:1017458_AGG_A:1259,2806,29017,2806,29017,29017,0,26358,26358,26130:1017458	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:630,0,76:706:99:0|1:1017458_AGG_A:1259,2806,29017,0,26358,26130:1017458	6	0	6	6
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:630,0,76:706:99:0|1:1017458_AGG_A:1259,2806,29017,0,26358,26130:1017458	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:630,0,76:706:99:0|1:1017458_AGG_A:1259,2806,29017,0,26358,26130:1017458	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:630,0,76:706:99:0|1:1017458_AGG_A:1259,2806,29017,0,26358,26130:1017458	1	0	13	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:630,76,0:706:99:0|1:1017458_AGG_A:1259,0,26130,2806,26358,29017:1017458	11	0	4	5
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P,	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.967	D	0.915	D	.	.	1.000	N	1.65	L	1.92	T	-1.035	T	0.084	T	0.142	1.872	12.22	-1.4	-0.326	0.060	2.878	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	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	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:630,76,0:706:99:0|1:1017458_AGG_A:1259,0,26130,2806,26358,29017:1017458	11	0	4	5
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:392,0,67:461:99:0|1:1017477_CTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTG_*:1723,2594,18886,0,16423,16213:1017477	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:392,0,67:461:99:0|1:1017477_CTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTG_*:1723,2594,18886,0,16423,16213:1017477	3	0	9	6
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:392,0,67:461:99:0|1:1017477_CTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTG_*:1723,2594,18886,0,16423,16213:1017477	3	0	12	1
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:392,0,67:461:99:0|1:1017477_CTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTG_*:1723,2594,18886,0,16423,16213:1017477	3	0	10	5
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4405.44	578	chr11	1017522	.	T	G,*	4405.44	.	AC=3,3;AF=0.100,0.100;AN=30;BaseQRankSum=1.48;DP=13418;ExcessHet=1.7912;FS=0.769;InbreedingCoeff=-0.2727;MLEAC=4,4;MLEAF=0.133,0.133;MQ=56.24;MQRankSum=-6.364e+00;QD=1.00;ReadPosRankSum=3.23;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:503,0,67:572:99:0|1:1017477_CTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTG_*:1389,2594,23488,0,21025,20816:1017477	9	0	3	6
chr11	1017528	1017528	T	0	exonic	MUC6	.	.	.	.	.	354	989	176	0	3	179	0.0817084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	489.22	578	chr11	1017528	.	T	A,*	489.22	.	AC=1,4;AF=0.031,0.125;AN=32;BaseQRankSum=9.03;DP=14270;ExcessHet=1.1607;FS=1.683;InbreedingCoeff=-0.2174;MLEAC=1,5;MLEAF=0.031,0.156;MQ=56.06;MQRankSum=-7.771e+00;QD=0.11;ReadPosRankSum=0.365;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:503,0,67:572:99:0|1:1017477_CTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTG_*:1389,2594,23488,0,21025,20816:1017477	11	0	1	5
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:503,0,67:572:99:0|1:1017477_CTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTG_*:1389,2594,23488,0,21025,20816:1017477	5	0	7	5
chr11	1017618	1017618	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,82,0:430:99:0|1:1017608_ACTGGTGGTCACTGTCATTGGTGGG_A:2220,0,14320,3267,14566,17834:1017608	7	0	4	9
chr11	1017618	1017618	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5183C:p.V1728A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.05	B	0.056	B	.	.	1.000	N	-0.895	N	2.26	T	-1.011	T	0.011	T	0.079	-3.136	0.001	-1.99	-5.487	-0.903	1.423	0.009	0.000784335526871	.	.	0.0002	0.0002	9.974e-05	0.0008	0.0002	0.0002	0	0.0001	0.0001423	22	154602	rs771325542	1.709e-06	4.822e-05	3.385e-06	0	0.0001	0	0	.	.	0	0.0001	0	0	0	0	0	0	0	0	0.0062	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.606	0.07791	T	0.05	0.22331	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.26	0.17596	T	0.09	0.05917	N	0.027	0.00571	-1.0109	0.26635	T	0.011	0.04134	T	9	0.010313988	0.00230	T	7.84E-4	0.00588	T	0.009	0.00846	.	.	0.0920862733494	0.08535	0.15508797170922747	0.15429	0.107656789803	0.12148	0.185074135661	0.00150	T	0.010255	0.09278	T	-0.295601	0.09080	T	-0.662387	0.08105	T	0.100785257858674	0.12443	T	.	.	.	0.017920928	0.00315	0.04538112	0.06095	0.017920928	0.00315	0.04538112	0.06094	-3.12	0.11527	T	.	.	0.072	0.04396	B	.	.	-1.046194	0.00708	0.021	0.27223928687474153	0.01341	0.00232	0.01297	N	AEFDGBCI	0.016358	0.00363	N	-2.72768374869058	0.00004	0.0002017786	-2.7868546645432	0.00005	0.0002182202	0.999999999999978	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-6.899000	0.00063	-6.778000	0.01309	-2.766000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2741:0.39:0.1507:0.1853	1.423	0.02177	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,82,0:430:99:0|1:1017608_ACTGGTGGTCACTGTCATTGGTGGG_A:2220,0,14320,3267,14566,17834:1017608	7	0	4	9
chr11	1017619	1017619	C	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,82,0:430:99:0|1:1017608_ACTGGTGGTCACTGTCATTGGTGGG_A:2220,0,14320,3267,14566,17834:1017608	15	0	4	1
chr11	1017619	1017619	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5182C:p.V1728L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.136	B	0.085	B	.	.	1.000	N	0	N	2.25	T	-0.970	T	0.017	T	0.071	-1.798	0.009	-1.99	-1.752	-5.547	3.869	0.004	0.000880914591661	.	.	0.0002	0.0002	8.892e-05	0.0007	0.0002	0.0002	0	0.0002	0.0001488	23	154602	rs776923183	1.601e-06	2.244e-05	3.143e-06	0	3.571e-05	2.7e-07	1e-07	.	.	3.571e-05	0	0	0	0	0	0	0	1.57e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.106	0.29688	T	0.691	0.05901	T	0.136	0.27347	B	0.085	0.29395	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.25	0.17761	T	-0.41	0.14000	N	0.072	0.04547	-0.9699	0.37220	T	0.017	0.07140	T	9	0.021094084	0.00498	T	8.81E-4	0.00800	T	0.004	0.00165	0.228	0.15406	0.110078149338	0.10416	0.16479799696447842	0.16399	0.087332336583	0.09842	0.185904532671	0.00161	T	0.025306	0.18949	T	-0.284345	0.10212	T	-0.646218	0.09221	T	0.115778049627493	0.14013	T	.	.	.	0.0501816	0.09025	0.06939536	0.14615	0.0501816	0.09025	0.06939536	0.14614	-0.985	0.00983	T	.	.	0.113	0.22208	B	.	.	-0.830553	0.01048	0.045	0.33187604895552741	0.01963	0.01051	0.03915	N	AEFDGBCI	0.030689	0.03138	N	-1.66755186315791	0.00963	0.04174298	-1.77929018143564	0.00828	0.03696766	0.99999848616586	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-3.035000	0.00699	-2.364000	0.03847	-1.720000	0.00730	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1769:0.4115:0.4116	3.869	0.08535	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,82,0:430:99:0|1:1017608_ACTGGTGGTCACTGTCATTGGTGGG_A:2220,0,14320,3267,14566,17834:1017608	15	0	4	1
chr11	1017620	1017620	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1963.06	470	chr11	1017620	.	T	*,C	1963.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-3.394e+00;DP=13014;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.571e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,82,0:430:99:0|1:1017608_ACTGGTGGTCACTGTCATTGGTGGG_A:2220,0,14320,3267,14566,17834:1017608	7	0	4	9
chr11	1017692	1017738	ATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5063_5109del:p.A1688Gfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16762.0	917	chr11	1017691	.	CATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	GATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG,C	16762.0	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-6.300e-02;DP=18038;ExcessHet=1.3000;FS=0.588;InbreedingCoeff=-0.3004;MLEAC=8,2;MLEAF=0.571,0.143;MQ=58.84;MQRankSum=-1.154e+01;QD=5.26;ReadPosRankSum=-2.329e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,107,0:372:99:0|1:1017608_ACTGGTGGTCACTGTCATTGGTGGG_A:2014,0,8923,2808,9193,12001:1017608	2	0	4	14
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3631.68	115	chr11	1075685	.	C	T	3631.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.770e-01;DP=922;ExcessHet=0.3300;FS=1.394;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.010e-01;SOR=0.791	GT:AD:DP:GQ:PL	0/1:47,34:81:99:692,0,1138	18	0	3	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,150,0:151:99:1|1:1095948_C_G:5895,446,0,5897,451,5903:1095948	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,145,0,0:145:99:1|1:1095948_C_G:5684,434,0,5684,434,5684,5684,434,5684,5684:1095948	0	19	0	0
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,81,0,0:416:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1755,0,13390,2762,13632,16395,2762,13632,16395,16395:1096141	13	0	5	1
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,81,0,0:416:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1755,0,13390,2762,13632,16395,2762,13632,16395,16395:1096141	13	0	5	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/2:201,44,81:326:99:1861,429,8252,0,6126,13922	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,132,0:247:99:.:.:4435,0,7500,5494,8314,18658	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,132,0:247:99:.:.:4435,0,7500,5494,8314,18658	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:199,44,81:324:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2073,675,8445,0,6112,11295:1096141	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:199,0,44:324:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1398,2194,11814,0,8220,7770:1096141	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,44,0:324:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1398,0,7770,2194,8220,11814:1096141	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,44,0:324:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1398,0,7770,2194,8220,11814:1096141	1	0	11	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,44,0:324:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1398,0,7770,2194,8220,11814:1096141	0	0	11	8
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,44,0:324:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1398,0,7770,2194,8220,11814:1096141	0	0	8	11
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,44,0:324:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:1398,0,7770,2194,8220,11814:1096141	0	0	8	11
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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1019.33	106	chr11	1096645	.	C	A	1019.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.489e+00;DP=2338;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=54.50;MQRankSum=0.852;QD=10.73;ReadPosRankSum=-4.440e-01;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,50:95:99:0|1:1096645_C_A:1033,0,971:1096645	19	0	1	1
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,72,0:72:99:1|1:1096645_C_A:2614,216,0,2614,216,2614:1096645	0	19	0	0
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3942.28	175	chr11	1097542	.	C	T,*	3942.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.89;DP=3986;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=53.25;MQRankSum=-9.900e-01;QD=7.17;ReadPosRankSum=-1.372e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,89,0:186:99:.:.:1849,0,2217,2304,2353,5528	18	0	2	0
chr11	1097542	1097542	C	0	exonic	MUC2	.	.	.	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3942.28	175	chr11	1097542	.	C	T,*	3942.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.89;DP=3986;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=53.25;MQRankSum=-9.900e-01;QD=7.17;ReadPosRankSum=-1.372e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,89,0:186:99:.:.:1849,0,2217,2304,2353,5528	18	0	2	0
chr11	1097584	1097584	C	0	exonic	MUC2	.	.	.	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:150,0,12:162:25:.:.:25,479,6332,0,5599,5492	5	0	2	12
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:150,0,12:162:25:.:.:25,479,6332,0,5599,5492	5	0	2	12
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,164,0:164:99:.:.:4349,490,0,4349,490,4349	0	15	0	0
chr11	1099659	1099659	-	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	417	1094	10	0	1	11	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0	0	0	0.0002	0	0.0006	3.84e-05	1	26028	rs774060881	0.0012	0.0012	0.0011	0.0013	0.0053	0.0011	0.0011	0.0046	0.0044	0.0020	0.0013	0.0022	0.0053	0.0019	0.0008	0.0009	0.0019	0.0023	0.0013	0.0014	0.0012	0.0014	0.0014	0.0011	0.0011	0.0012	0.0011	0.0014	0	0.0012	0.0020	0.0004	0.0008	0	0.0014	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	8962.51	420	chr11	1099659	.	A	AC	8962.51	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.540e-01;DP=7033;ExcessHet=0.1072;FS=5.323;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=58.05;MQRankSum=-7.987e+00;QD=11.75;ReadPosRankSum=3.23;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,102:284:99:0|1:1099659_A_AC:3631,0,7272:1099659	17	0	2	2
chr11	1099661	1099661	-	CTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	exonic	MUC2	.	unknown	UNKNOWN,	.	.	445	603	462	1	11	475	0.277844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	.	0.0006	0.0013	0.0006	0.0007	0.0032	0.0006	0.0006	0.0026	0.0024	0.0014	0.0005	0.0010	0.0032	0.0007	0.0006	0.0004	0.0010	0.0012	0.0015	0.0019	0.0012	0.0018	0.0019	0.0013	0.0012	0.0015	0.0013	0.0019	0	0.0011	0.0026	0.0006	0.0010	0	0.0015	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	23720.71	427	chr11	1099661	.	A	C,ACTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	23720.71	.	AC=4,2;AF=0.143,0.071;AN=28;BaseQRankSum=0.167;DP=7139;ExcessHet=1.7912;FS=4.643;InbreedingCoeff=-0.2923;MLEAC=5,3;MLEAF=0.179,0.107;MQ=58.74;MQRankSum=-9.005e+00;QD=9.92;ReadPosRankSum=1.55;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:189,0,115:304:99:0|1:1099659_A_AC:3750,4325,12078,0,7753,7423:1099659	8	0	4	7
chr11	1164457	1164457	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon9:c.G1054A:p.A352T,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.004	B	0.008	B	.	.	.	.	0.975	L	-2.72	D	-0.659	T	0.424	T	0.193	-2.266	0.004	-3.8	-1.262	-4.485	0.82	0.254	.	.	.	1.855e-05	0	0	0.0001	0	1.69e-05	0	0	1.29e-05	2	154602	rs79652017	5.755e-05	5.883e-05	6.407e-05	5.097e-05	6.837e-05	4.75e-05	4.373e-05	5.599e-05	5.112e-05	0	2.244e-05	0	0	0	0	6.837e-05	0.0001	0	3.943e-05	3.94e-05	3.854e-05	4.035e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	4.41e-05	0	0	.	.	.	0.615	0.07568	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	-0.6588	0.62329	T	0.424	0.76843	T	8	0.04771945	0.04127	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.5128507024590909	0.51207	.	.	.	.	.	0.076424	0.35416	T	-0.377494	0.03230	T	-0.607562	0.12184	T	0.0296324434389402	0.01933	T	.	.	.	0.014783213	0.00108	0.07252558	0.15656	0.014783213	0.00107	0.07252558	0.15656	-3.152	0.11903	T	.	.	0.064	0.01645	B	.	.	-0.473271	0.01953	0.168	0.57026317870541587	0.05679	0.00964	0.03693	N	AEFDBI	0.038249	0.05385	N	-1.88213309350233	0.00374	0.01605197	-1.96923837553061	0.00355	0.01568102	0.133434359732838	0.17135	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.68	-3.8	0.04025	-3.400000	0.00537	-7.356000	0.01174	-0.802000	0.03151	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3668:0.1068:0.2631:0.2633	0.82	0.01039	.	.	Trypsin Inhibitor-like, cysteine rich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1056.98	40	chr11	1164457	.	G	A	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=938;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.478e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1071,0,929	20	0	1	0
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:153,0,52:205:99:0|1:1185018_A_C:1723,2183,8608,0,6424,6268:1185018	7	0	3	5
chr11	1191078	1191078	T	0	exonic	MUC5AC	.	.	.	.	.	444	1027	30	0	21	51	0.0143954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1149.45	693	chr11	1191078	.	T	C,*	1149.45	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=1.85;DP=14543;ExcessHet=0.3300;FS=0.851;InbreedingCoeff=-0.1200;MLEAC=2,1;MLEAF=0.056,0.028;MQ=57.97;MQRankSum=-1.375e+01;QD=0.40;ReadPosRankSum=5.91;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:252,35,0:287:99:.:.:143,0,5970,897,6075,6972	15	0	2	3
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G,	.	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.006	B	0.004	B	.	.	1.000	N	2.015	M	2.45	T	-0.984	T	0.040	T	0.06	0.243	5.315	-1.97	-0.202	0.106	5.827	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	4885.11	84	chr11	1243062	.	C	G	4885.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.863;DP=2602;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=50.59;MQRankSum=-1.111e+00;QD=12.31;ReadPosRankSum=0.594;SOR=0.789	GT:AD:DP:GQ:PL	0/1:85,100:185:99:2304,0,1809	19	0	2	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	D	0.246	B	0.088	B	.	.	1.000	N	1.59	L	1.98	T	-1.027	T	0.054	T	0.147	0.724	7.849	1.6	0.208	0.103	7.308	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	0.02381	3119.98	37	chr11	1243709	.	A	T	3119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.452;DP=1412;ExcessHet=0.0000;FS=3.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.52;MQRankSum=1.70;QD=11.82;ReadPosRankSum=1.05;SOR=0.860	GT:AD:DP:GQ:PL	0/1:133,131:264:99:3134,0,3232	20	0	1	0
chr11	1249171	1249171	G	0	exonic	MUC5B	.	.	.	.	.	465	977	67	1	12	81	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1165.22	39	chr11	1249171	.	G	A,*	1165.22	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=2.22;DP=1559;ExcessHet=1.1607;FS=9.281;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=52.13;MQRankSum=-6.057e+00;QD=1.63;ReadPosRankSum=1.43;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,33,0:222:99:0|1:1249152_C_G:269,0,6758,836,6856,7692:1249152	16	0	3	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,77,0:165:99:.:.:1395,0,4782,1916,4153,6225	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,77,0:165:99:.:.:1395,0,4782,1916,4153,6225	11	0	8	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:110,0,77:187:99:1|0:1630376_G_*:2257,2010,7615,0,4674,4763:1630376	3	3	5	0
chr11	5342819	5342819	G	C	exonic	OR51B5	.	nonsynonymous SNV	OR51B5:NM_001005567:exon5:c.C706G:p.L236V,	.	.	436	1059	23	4	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.968	D	0.177	N	1.000	N	2.755	M	8.65	T	-0.952	T	0.001	T	0.265	2.592	14.63	2.06	0.295	-0.539	7.043	0.130	0.00581998553089	0.0019	0.000599042	0.0025	0.0006	0.0012	0	0.0012	0.0026	0.0033	0.0063	0.002348	363	154602	rs140543559	0.0029	0.0029	0.0028	0.0029	0.0068	0.0028	0.0028	0.0064	0.0062	0.0003	0.0009	0.0007	2.519e-05	0.0012	0.0066	0.0030	0.0027	0.0068	0.0019	0.0019	0.0017	0.0021	0.0068	0.0017	0.0016	0.0050	0.0044	0.0005	0	0.0016	0.0009	0	0.0015	0.0068	0.0027	0.0024	0.0068	0.02	0.49613	D	0.018	0.59732	D	0.997	0.70673	D	0.968	0.71741	D	0.177258	0.17202	N	0.415917	1	0.81001	D	2.785	0.81254	M	8.65	0.00144	T	-2.53	0.54864	D	0.11	0.09631	-0.9521	0.40608	T	0.001	0.00438	T	10	0.005307317	0.00116	T	0.00582	0.15131	T	0.130	0.35528	.	.	0.274366138417	0.27033	0.022311389364349156	0.02183	0.0136984243272	0.01312	0.18676237762	0.00173	T	0.009763	0.08869	T	-0.56003	0.00254	T	-0.573635	0.15117	T	0.0331144742684216	0.02490	T	0.961004	0.85375	D	0.092088416	0.21594	0.17780884	0.40407	0.092088416	0.21594	0.17780884	0.40407	-6.222	0.48101	T	.	.	0.124	0.26010	B	.	.	1.331477	0.17365	13.12	0.99798359245562285	0.88372	0.44720	0.27380	N	AEFGBI	0.307269	0.41419	N	0.166970966708866	0.49619	3.16022	-0.00928002046424085	0.39294	2.327644	0.0308478271183786	0.13968	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	2.06	0.25932	-1.192000	0.03161	.	.	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.4306:0.0:0.5694:0.0	7.043	0.24212	870	0.31527	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	34	chr11	5342819	.	G	C	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-03;DP=852;ExcessHet=0.0000;FS=0.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=-4.230e-01;SOR=0.718	GT:AD:DP:GQ:PL	0/1:80,58:138:99:1213,0,1850	20	0	1	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,117,0,0,0:117:99:.:.:5101,5101,5101,354,354,0,5101,5101,354,5101,5101,5101,354,5101,5101,5101,5101,354,5101,5101,5101	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,117,0,0,0:117:99:.:.:5101,5101,5101,354,354,0,5101,5101,354,5101,5101,5101,354,5101,5101,5101,5101,354,5101,5101,5101	0	5	0	0
chr11	6557386	6557386	-	GAG	exonic	DNHD1	.	nonframeshift insertion	DNHD1:NM_144666:exon25:c.8091_8092insGAG:p.E2703_R2704insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2318.05	86	chr11	6557383	.	TGAG	TGAGGAG,T	2318.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.149;DP=1347;ExcessHet=0.1072;FS=0.543;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.318;SOR=0.616	GT:AD:DP:GQ:PL	0/2:78,0,9:87:99:143,378,3603,0,3225,3197	19	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.922	P	0.583	P	.	.	1.000	N	0.895	L	-0.82	T	-0.736	T	0.305	T	0.179	1.460	10.83	4.27	2.202	2.147	12.045	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	723.45	41	chr11	6564079	.	G	C	723.45	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.656e+00;DP=1725;ExcessHet=6.1002;FS=193.467;InbreedingCoeff=-0.4201;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.74;SOR=11.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,27:94:88:.:.:88,0,995	7	0	10	4
chr11	6892050	6892050	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A451G:p.S151G,	.	.	434	1057	31	0	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.784	P	0.527	P	0.000	D	0.997	N	0.89	L	1.24	T	-1.062	T	0.056	T	0.156	2.054	12.83	5.12	2.291	0.025	8.541	0.093	0.003817604036	0.0042	0.00179712	0.0040	0.0011	0.0033	0.0001	0.0020	0.0048	0.0055	0.0059	0.0038357	593	154602	rs74917712	0.0047	0.0047	0.0046	0.0048	0.0134	0.0046	0.0046	0.0110	0.0101	0.0008	0.0039	0.0093	2.519e-05	0.0019	0.0134	0.0049	0.0049	0.0062	0.0039	0.0039	0.0038	0.0040	0.0061	0.0036	0.0035	0.0051	0.0048	0.0010	0	0.0061	0.0104	0.0004	0.0018	0.0034	0.0053	0.0061	0.0050	0.132	0.26519	T	0.271	0.22291	T	0.784	0.44396	P	0.527	0.48453	P	0.000019	0.62929	D	0.000000	0.996695	0.22933	N	1	0.25136	L	1.24	0.36691	T	-3.59	0.69236	D	0.09	0.06854	-1.0621	0.11239	T	0.056	0.23677	T	10	0.009351373	0.00211	T	0.003818	0.08930	T	0.093	0.26882	.	.	0.667396578862	0.66459	0.22614904341023914	0.22529	0.0160720979478	0.01538	0.267553925514	0.05824	T	0.007197	0.06615	T	-0.551367	0.00286	T	-0.562996	0.16097	T	0.0497815433916849	0.05462	T	0.60064	0.22426	T	0.36737594	0.58390	0.2915325	0.55178	0.36737594	0.58390	0.2915325	0.55177	-4.217	0.26997	T	.	.	0.072	0.04316	B	.	.	2.830404	0.37313	20.5	0.99226097246895772	0.56057	0.10633	0.16084	N	AEFGBI	0.062217	0.11946	N	-0.0295373959221345	0.40522	2.407833	0.00228593108559329	0.39823	2.367003	0.0155712046616577	0.12730	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	0.196000	0.16979	0.182000	0.15643	0.646000	0.52725	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1719:0.0:0.0:0.8281	8.541	0.32551	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6005.68	44	chr11	6892050	.	T	C	6005.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.734e+00;DP=1982;ExcessHet=0.3300;FS=0.519;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.592;SOR=0.745	GT:AD:DP:GQ:PL	0/1:63,48:111:99:899,0,1588	18	0	3	0
chr11	8640492	8640492	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.C1448T:p.P483L,	.	.	442	1057	22	1	0	24	0.0112254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.067	B	0.018	B	0.001	D	0.996	D	2.075	M	2.4	T	-1.074	T	0.052	T	0.299	2.228	13.41	4.14	2.151	0.000	14.764	0.077	0.0122945728011	.	0.000599042	0.0021	0.0017	0.0030	0	0	0.0041	0.0044	0.0006	0.0005627	87	154602	rs200180407	0.0016	0.0015	0.0015	0.0016	0.0244	0.0015	0.0015	0.0209	0.0196	0.0010	0.0056	0.0130	2.846e-05	6.199e-05	0.0244	0.0010	0.0043	0.0013	0.0019	0.0019	0.0018	0.0019	0.0047	0.0017	0.0016	0.0038	0.0035	0.0005	0	0.0047	0.0150	0	0	0.0387	0.0016	0.0078	0.0007	0.0	0.91255	D	0.004	0.74150	D	0.067	0.23653	B	0.018	0.18489	B	0.000525	0.43581	D	0.000000	0.996231	0.43090	D	1.1	0.28011	L	2.4	0.15608	T	-1.61	0.38734	N	0.287	0.37197	-1.0743	0.08493	T	0.052	0.22192	T	10	0.007167518	0.00163	T	0.012295	0.30730	T	0.077	0.22490	.	.	0.40528724903	0.40140	0.19159180296249653	0.19077	.	.	0.625356137753	0.56486	T	0.005053	0.04483	T	-0.497353	0.00592	T	-0.485823	0.23831	T	0.0608751208973345	0.07305	T	0.59564	0.22695	T	0.17800525	0.38797	0.34425545	0.60125	0.17800525	0.38797	0.34425545	0.60125	-4.563	0.31703	T	.	.	0.101	0.25689	B	.;.;.	.;.;.	3.088275	0.41569	21.4	0.94994902572322137	0.25950	0.95810	0.66250	D	AEFDBI	0.154279	0.27928	N	-0.0227403274774952	0.40828	2.431368	0.0716012061328867	0.43128	2.621004	0.999993948386023	0.74766	0.608966	0.35542	0	0.653731	0.59785	0	0.769059	0.98459	0	0.727631	0.95156	0	.	.	4.14	4.14	0.47821	2.996000	0.49137	6.801000	0.56627	0.616000	0.49467	0.995000	0.38783	1.000000	0.68203	0.737000	0.35335	0.0:0.0:1.0:0.0	14.764	0.69247	363	0.84772	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1604.11	33	chr11	8640492	.	G	A	1604.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.41;DP=795;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,32:66:99:690,0,712	19	0	2	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:0,0,9,3,6,0,0:18:99:.:.:677,640,623,227,230,183,511,495,111,484,351,338,0,210,316,640,623,230,495,338,623,640,623,230,495,338,623,623	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:0,0,9,3,6,0,0:18:99:.:.:677,640,623,227,230,183,511,495,111,484,351,338,0,210,316,640,623,230,495,338,623,640,623,230,495,338,623,623	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:0,0,9,3,6,0,0:18:99:.:.:677,640,623,227,230,183,511,495,111,484,351,338,0,210,316,640,623,230,495,338,623,640,623,230,495,338,623,623	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:0,0,9,3,6,0,0:18:99:.:.:677,640,623,227,230,183,511,495,111,484,351,338,0,210,316,640,623,230,495,338,623,640,623,230,495,338,623,623	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:0,0,9,3,6,0,0:18:99:.:.:677,640,623,227,230,183,511,495,111,484,351,338,0,210,316,640,623,230,495,338,623,640,623,230,495,338,623,623	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	2/4:0,0,9,3,6,0,0:18:99:.:.:677,640,623,227,230,183,511,495,111,484,351,338,0,210,316,640,623,230,495,338,623,640,623,230,495,338,623,623	6	0	4	0
chr11	14498910	14498910	C	T	exonic	COPB1	.	nonsynonymous SNV	COPB1:NM_001144061:exon2:c.G19A:p.V7I	.	.	.	.	.	.	.	.	.	.	.	2431328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.006	B	0.004	B	0.000	D	1.000	D	-0.205	N	0.99	T	-1.103	T	0.058	T	0.4	3.307	17.11	4.94	1.468	7.818	16.995	0.173	0.0199273320411	.	.	1.675e-05	0	0	0.0001	0	1.523e-05	0	0	1.29e-05	2	154602	rs774061544	1.647e-05	1.984e-05	1.365e-05	1.933e-05	0.0007	1.114e-05	9.37e-06	0.0002	0.0001	3.009e-05	0	0	0.0003	0	0.0007	2.701e-06	8.301e-05	0	4.623e-05	4.604e-05	7.739e-05	1.354e-05	0.0014	2.119e-05	1.533e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0	0.207	0.19854	T	0.517	0.25591	T	0.006	0.13644	B	0.004	0.10090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.63	0.15941	N	0.99	0.41750	T	-0.64	0.19297	N	0.617	0.64563	-1.1030	0.03747	T	0.058	0.24167	T	10	0.0844799	0.14165	T	0.019927	0.42414	T	0.173	0.43840	0.221	0.14371	0.397490039902	0.39361	0.4280402443609473	0.42721	0.625182808285	0.56699	0.850654840469	0.89714	D	0.183074	0.53529	T	-0.271847	0.11552	T	-0.358966	0.38173	T	0.341344982385635	0.26677	T	0.952105	0.86318	D	0.18128951	0.39292	0.12781943	0.30762	0.18128951	0.39292	0.12781943	0.30761	-4.802	0.34615	T	.	.	0.067	0.02765	B	.;.;.;.;.	.;.;.;.;.	3.738883	0.53529	23.4	0.98843194090250075	0.47152	0.95605	0.65391	D	AEFBCI	0.893021	0.83054	D	-0.34575835015851	0.27429	1.504769	-0.0868488049382321	0.35932	2.084863	0.999999999988489	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.86	4.94	0.64645	7.701000	0.83543	7.690000	0.65738	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8724:0.1276:0.0	16.995	0.86238	309	0.87553	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	830.98	33	chr11	14498910	.	C	T	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.39;ReadPosRankSum=1.42;SOR=0.742	GT:AD:DP:GQ:PL	0/1:62,37:99:99:845,0,1325	20	0	1	0
chr11	17611374	17611374	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon35:c.C6110T:p.A2037V	Deafness, autosomal recessive 18B, Autosomal recessive	.	8	1506	8	0	0	8	0.00264901	.	.	230135	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_18B|not_specified|Meniere_disease|OTOG-related_disorder	MedGen:C3661900|MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.43	T	0.972	D	0.367	B	0.955	N	1.000	N	1.7	L	2.77	T	-1.016	T	0.027	T	0.037	1.507	10.99	1.18	0.067	0.039	6.788	0.055	.	.	0.00339457	0.0037	0.0058	0.0075	0	0	0.0015	0	0.0066	0.0006727	104	154602	rs61736002	0.0014	0.0013	0.0013	0.0015	0.0063	0.0014	0.0013	0.0047	0.0044	0.0042	0.0050	0.0025	5.628e-05	0	0.0063	0.0009	0.0030	0.0050	0.0024	0.0024	0.0023	0.0026	0.0073	0.0022	0.0021	0.0060	0.0056	0.0033	0	0.0071	0.0014	0	0	0.0102	0.0010	0.0043	0.0073	0.201	0.20306	T	0.065	0.44702	T	.	.	.	.	.	.	0.955210	0.08260	N	0.979822	1	0.08975	N	2.245	0.63543	M	2.34	0.16351	T	-0.4	0.13805	N	0.041	0.01421	-1.0159	0.25045	T	0.027	0.11618	T	10	0.004099995	0.00081	T	.	.	.	0.055	0.15663	.	.	0.0297737177859	0.01360	0.4108811085175969	0.41004	.	.	0.271751970053	0.06371	T	0.021941	0.17000	T	-0.704935	0.00034	T	-0.784689	0.02315	T	0.00436496151355306	0.00047	T	0.59614	0.22137	T	0.020414932	0.00599	0.041731935	0.04809	0.021152996	0.00703	0.04009719	0.04256	-4.2	0.26751	T	.	.	0.094	0.14431	B	.;.	.;.	0.892266	0.12656	9.182	0.97933854420936772	0.36978	0.03860	0.09219	N	AEFDBI	0.051649	0.09146	N	-0.706393868893595	0.15842	0.801962	-0.858077467460739	0.13093	0.6773549	3.52298344120681E-4	0.06668	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.12	1.18	0.20058	0.368000	0.20132	0.375000	0.17719	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.6111:0.0:0.3889	6.788	0.22869	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	1	0	1	0	0.02381	769.98	61	chr11	17611374	.	C	T	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.500e-01;DP=1216;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=0.041;SOR=0.847	GT:AD:DP:GQ:PL	0/1:57,39:96:99:784,0,1280	20	0	1	0
chr11	18247969	18247969	T	C	exonic	SAA2;SAA2-SAA4	.	nonsynonymous SNV	SAA2:NM_001127380:exon2:c.A43G:p.S15G	.	.	424	1069	29	0	0	29	0.0133826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.017	N	1.000	N	.	.	3.35	T	-0.962	T	0.017	T	0.087	-0.006	3.984	2.08	0.510	0.167	4.536	0.019	0.00177383205572	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs712021	0.0002	0.0018	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	6.772e-05	0	0.0006	0.0004	0	5.609e-05	0.0002	0.0024	0.0005	0.0036	0.0003	0.0006	0.0016	0.0004	0.0003	0.0007	0.0005	0.0006	0	0.0003	0	0.0006	0.0007	0	0.0004	0.0005	0.0016	1.0	0.00964	T	0.654	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.017200	0.27786	N	0.327305	1	0.08975	N	-2.83	0.00022	N	2.15	0.19990	T	2.7	0.00304	N	0.133	0.12913	-0.9615	0.38897	T	0.017	0.06950	T	9	0.030165315	0.01143	T	0.001774	0.03012	T	0.019	0.03383	.	.	0.0401082797425	0.02173	0.04139099236084914	0.24331	1.5434244008	0.87773	0.351255208254	0.18106	T	0.075674	0.35233	T	-0.350743	0.04680	T	-0.741595	0.03823	T	0.0246311460941919	0.01225	T	0.184981	0.05950	T	0.028958477	0.02314	0.0413899	0.04694	0.028958477	0.02313	0.0413899	0.04694	-3.826	0.21193	T	.	.	0.047	0.00069	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.457001	0.08270	5.012	0.60941765000311832	0.06586	0.00054	0.00410	N	AEFDGBI	0.047508	0.08007	N	-1.0549573913247	0.07491	0.3481452	-1.03460989437403	0.09029	0.4470526	0.754955816509007	0.23418	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.2	2.08	0.26079	0.227000	0.17575	0.987000	0.23166	-0.808000	0.03092	0.374000	0.25957	0.004000	0.18990	0.035000	0.13729	0.3892:0.5034:0.0:0.1073	4.536	0.11435	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	74.11	34	chr11	18247969	.	T	C	74.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.25;DP=942;ExcessHet=0.1072;FS=76.986;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=48.11;MQRankSum=-5.092e+00;QD=0.27;ReadPosRankSum=-1.295e+00;SOR=6.739	GT:AD:DP:GQ:PL	0/1:110,14:124:73:73,0,2682	19	0	2	0
chr11	18721615	18721617	AGG	-	exonic	IGSF22	.	nonframeshift deletion	IGSF22:NM_173588:exon4:c.296_298del:p.S99del,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.28e-05	0	8.639e-05	0	0	0.0001	0	0	3.84e-05	1	26028	rs765812234	3.762e-05	3.762e-05	2.995e-05	4.538e-05	0.0002	2.959e-05	2.655e-05	9.75e-05	6.95e-05	0.0002	0	0.0002	0	0	0.0002	3.147e-05	8.279e-05	1.159e-05	3.284e-05	3.283e-05	6.421e-05	0	7.232e-05	1.26e-05	7.98e-06	1.918e-05	1.031e-05	7.232e-05	0	6.539e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2221.94	33	chr11	18721614	.	CAGG	C	2221.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.536e+00;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.36;ReadPosRankSum=-5.170e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:46,58:104:99:2236,0,1716	20	0	1	0
chr11	18724164	18724164	C	T	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon2:c.G73A:p.V25M,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.297	B	0.015	B	0.371	N	1.000	N	0.345	N	0.66	T	-1.078	T	0.051	T	0.118	2.096	12.96	-3.6	-0.691	-1.672	7.433	0.008	0.00737729565619	7.9e-05	.	9.121e-05	0	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs181361635	4.173e-05	4.173e-05	2.859e-05	5.501e-05	0.0002	3.311e-05	3.001e-05	3.983e-05	2.373e-05	0.0001	0	0.0002	0	0	0.0002	3.418e-05	0.0001	5.799e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	9.652e-05	1.715e-05	1.129e-05	3.249e-05	1.915e-05	9.652e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.075	0.34444	T	0.0	0.92824	D	.	.	.	.	.	.	0.370830	0.13530	N	0.554268	0.999675	0.20721	N	.	.	.	0.66	0.52416	T	-0.31	0.12099	N	0.257	0.29081	-1.0784	0.07661	T	0.051	0.21844	T	10	0.04636213	0.03818	T	0.007377	0.19576	T	0.008	0.00669	.	.	0.18274738541	0.17906	0.06988123832336775	0.06926	0.222977863819	0.24826	0.28389364481	0.08041	T	.	.	.	-0.416756	0.01795	T	-0.631867	0.10273	T	0.0509332461117495	0.05663	T	0.465553	0.13627	T	.	.	.	.	.	.	.	.	-3.784	0.20566	T	.	.	0.203	0.42848	B	.	.	-0.011113	0.04206	1.026	0.95930175862903944	0.28214	0.02200	0.06422	N	AEFDBHI	0.053315	0.09597	N	-1.11478893595298	0.06379	0.2934936	-1.05849042995056	0.08530	0.4198869	0.999682371374983	0.41756	0.608966	0.35542	0	0.586423	0.34054	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	5.84	-3.6	0.04277	-1.675000	0.02049	-4.348000	0.02204	-0.817000	0.03001	0.002000	0.15269	0.000000	0.08366	0.991000	0.66497	0.0:0.3868:0.1115:0.5016	7.433	0.26311	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1297.98	33	chr11	18724164	.	C	T	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=800;ExcessHet=0.0000;FS=1.543;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.518;SOR=0.868	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1312,0,979	20	0	1	0
chr11	22829341	22829341	G	T	exonic	SVIP	.	nonsynonymous SNV	SVIP:NM_001320340:exon1:c.C14A:p.A5E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459546382	0	6.32e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	40	chr11	22829341	.	G	T	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.266;DP=939;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.964;SOR=0.705	GT:AD:DP:GQ:PL	0/1:81,57:138:99:1148,0,1708	20	0	1	0
chr11	31783490	31783490	T	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.T1241C:p.M414T,	.	.	424	1094	4	0	0	4	0.00182482	.	.	693005	ELP4-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.001	B	.	.	1.000	N	1.1	L	1.04	T	-1.000	T	0.067	T	0.079	0.770	8.068	-4.72	-0.765	0.718	10.270	0.045	0.00463023244741	0.0015	.	0.0008	0.0006	8.643e-05	0	0.0005	0.0012	0.0011	0.0005	0.0008991	139	154602	rs200018893	0.0015	0.0015	0.0016	0.0014	0.0018	0.0014	0.0014	0.0017	0.0017	0.0002	0.0002	0	0	0.0006	0.0012	0.0018	0.0011	0.0006	0.0010	0.0010	0.0011	0.0008	0.0017	0.0008	0.0008	0.0015	0.0014	0.0004	0	0.0003	0	0	0.0005	0	0.0017	0	0	0.597	0.05686	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.19072	N	.	.	.	1.09	0.39223	T	0.03	0.06612	N	.	.	-0.9999	0.29945	T	0.067	0.27708	T	9	0.0116990805	0.00254	T	0.00463	0.11472	T	0.045	0.12272	.	.	0.128392430309	0.12331	.	.	0.0564535729519	0.06238	0.282495081425	0.07842	T	0.006188	0.05627	T	-0.646184	0.00076	T	-0.700022	0.05824	T	0.000848177014579988	0.00008	T	0.475352	0.14216	T	0.053250786	0.10048	0.088017575	0.20495	0.053250786	0.10048	0.088017575	0.20494	-2.225	0.04163	T	.	.	0.088	0.11701	B	.;.	.;.	0.369904	0.07422	4.053	0.56455259051439732	0.05556	0.12454	0.17279	N	AEFDIJ	0.013766	0.00195	N	-1.03786454232493	0.07828	0.3649684	-1.00873588633329	0.09592	0.4781257	0.00782027977440591	0.11550	0.626454	0.40138	0	0.659464	0.62310	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.73	-4.72	0.03032	0.715000	0.25493	-1.826000	0.04656	-0.120000	0.14102	0.653000	0.28198	0.000000	0.08366	0.992000	0.67800	0.0:0.5858:0.2339:0.1803	10.270	0.42658	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1193.98	33	chr11	31783490	.	T	C	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.329e+00;DP=803;ExcessHet=0.0000;FS=4.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-2.520e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1208,0,1054	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	1/3:2,6,9,15:40:20:607,281,442,244,179,257,243,0,20,190	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	1/3:2,6,9,15:40:20:607,281,442,244,179,257,243,0,20,190	0	0	0	0
chr11	49192828	49192828	G	C	exonic	FOLH1	.	nonsynonymous SNV	FOLH1:NM_001014986:exon4:c.C478G:p.P160A	.	.	463	1054	5	0	0	5	0.0023663	.	.	712871	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.917	P	0.657	P	0.000	D	1.000	D	2.52	M	1.03	T	-0.653	T	0.189	T	0.477	3.371	17.36	3.45	1.781	8.457	12.517	0.279	0.0334816123843	0.0015	0.000998403	0.0035	0.0002	0.0022	0	0.0079	0.0047	0.0033	0.0017	0.0006145	95	154602	rs138510346	0.0039	0.0042	0.0040	0.0037	0.0043	0.0038	0.0037	0.0042	0.0042	0.0005	0.0013	3.852e-05	2.537e-05	0.0086	0.0016	0.0043	0.0030	0.0013	0.0032	0.0032	0.0033	0.0031	0.0046	0.0029	0.0028	0.0042	0.0040	0.0007	0	0.0026	0	0	0.0083	0.0034	0.0046	0.0043	0.0012	0.015	0.52492	D	0.015	0.64786	D	0.075	0.50750	B	0.038	0.52725	B	0.000156	0.49130	D	0.000000	1	0.81001	D	2.825	0.82220	M	1.03	0.40469	T	-6.94	0.93440	D	0.838	0.83371	-0.6533	0.62570	T	0.189	0.53945	T	10	0.018302143	0.00397	T	0.033482	0.55009	D	0.279	0.59619	.	.	0.683316155328	0.68061	0.6973406176964458	0.69675	0.569308612202	0.53113	0.521155118942	0.41788	T	0.55239	0.84867	D	-0.347778	0.04868	T	-0.270001	0.47818	T	0.132768351035852	0.15636	T	0.783622	0.43226	T	0.76210475	0.81577	0.4250139	0.66323	0.76210475	0.81579	0.4250139	0.66323	-8.787	0.67161	D	.	.	0.108	0.24767	B	.;.;.;.	.;.;.;.	3.596932	0.50782	23.0	0.98679965718486551	0.44596	0.97944	0.78319	D	AEFI	0.898715	0.84230	D	0.325325132468063	0.57451	3.912528	0.336023360209232	0.57668	3.933618	0.373759461738529	0.19895	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	3.45	0.38602	8.626000	0.90739	.	.	0.458000	0.21545	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	12.517	0.55385	199	0.92292	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	954.98	33	chr11	49192828	.	G	C	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=807;ExcessHet=0.0000;FS=4.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.23;MQRankSum=-6.592e+00;QD=8.45;ReadPosRankSum=-1.724e+00;SOR=1.179	GT:AD:DP:GQ:PL	0/1:70,43:113:99:969,0,1595	20	0	1	0
chr11	55554765	55554765	G	T	exonic	OR4C15	.	nonsynonymous SNV	OR4C15:NM_001001920:exon1:c.G297T:p.Q99H,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	4.21	H	7.19	T	-1.130	T	0.007	T	0.738	2.616	14.71	-4.14	-0.736	-0.028	7.823	0.189	.	.	0.00339457	0.0011	0	8.682e-05	0	0	1.499e-05	0	0.0082	0.0010479	162	154602	rs184437553	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	2.988e-05	0	0	0	0	0.0005	9.893e-06	0.0004	0.0080	0.0003	0.0003	0.0001	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0	0	0	0	0	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999961	0.18878	N	3.875	0.95948	H	7.19	0.00436	T	-4.91	0.81595	D	0.599	0.61764	-1.1303	0.01768	T	0.007	0.02321	T	9	0.006790757	0.00154	T	.	.	.	0.189	0.46613	0.559	0.67821	0.355865052028	0.35192	0.37778764640709717	0.37693	.	.	0.324215501547	0.14058	T	.	.	.	-0.336128	0.05661	T	-0.250051	0.49812	T	0.339203419742848	0.26592	T	0.863614	0.55989	D	0.13918972	0.32161	0.21557908	0.46152	0.13918972	0.32161	0.21557908	0.46151	-9.465	0.70641	D	.	.	0.774	0.76103	P	.;.	.;.	1.948595	0.24753	16.51	0.99238533778407345	0.56469	0.11286	0.16533	N	AEFI	0.078134	0.15758	N	-0.0710765434837261	0.38665	2.268065	-0.418310716788469	0.24460	1.339542	7.52482475400162E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	-4.14	0.03628	-0.310000	0.08175	-5.365000	0.01746	0.485000	0.22221	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.4776:0.1069:0.4156:0.0	7.823	0.28460	145	0.94217	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	0	0	0	1	0	0	0	0.02381	1066.98	135	chr11	55554765	.	G	T	1066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.340e-01;DP=1754;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=2.42;SOR=0.653	GT:AD:DP:GQ:PL	0/1:67,49:116:99:1081,0,1705	20	0	1	0
chr11	56346906	56346906	A	G	exonic	OR8K1	.	nonsynonymous SNV	OR8K1:NM_001002907:exon1:c.A868G:p.M290V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.733	P	0.081	B	0.000	D	1.000	N	1.575	L	1.23	T	-0.981	T	0.057	T	0.361	0.754	7.996	3.88	0.756	0.829	4.668	0.076	0.00487757422009	.	.	2.477e-05	0	0	0	0	1.502e-05	0	0.0001	2.59e-05	4	154602	rs750177755	1.984e-05	1.984e-05	1.906e-05	2.063e-05	0.0001	1.392e-05	1.204e-05	7.999e-05	6.237e-05	0	0	0	0	0	0	1.439e-05	1.656e-05	0.0001	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	0.045	0.40832	D	0.013	0.63109	D	0.733	0.42736	P	0.081	0.28987	B	0.000012	0.62929	D	0.000000	1	0.08975	N	2.055	0.56616	M	1.23	0.36872	T	-3.48	0.67941	D	0.229	0.25745	-0.9814	0.34678	T	0.057	0.23828	T	10	0.09685162	0.17402	T	0.004878	0.12255	T	0.076	0.22200	0.439	0.49321	0.299770980665	0.29595	0.13065554007477065	0.12990	0.0177545150975	0.01741	0.197076112032	0.00377	T	0.007618	0.07015	T	-0.325837	0.06431	T	-0.46915	0.25609	T	0.336925446987152	0.26501	T	.	.	.	0.3682145	0.58452	0.4908993	0.70548	0.3682145	0.58453	0.4908993	0.70548	-5.757	0.44198	T	.	.	0.085	0.10400	B	.	.	1.555674	0.19930	14.51	0.93343054448435947	0.23073	0.08418	0.14350	N	AEFGI	0.056325	0.10403	N	-0.209053320010625	0.32763	1.851294	-0.20854581434578	0.31227	1.765342	3.75557531342139E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	3.88	0.43959	-0.048000	0.11898	.	.	-0.154000	0.11915	0.000000	0.06391	0.291000	0.24165	0.902000	0.43815	0.7028:0.0:0.1565:0.1407	4.668	0.12061	190	0.92594	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1424.98	45	chr11	56346906	.	A	G	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.305;DP=934;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.672;SOR=0.536	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1439,0,1287	20	0	1	0
chr11	60024972	60024972	C	G	exonic	OOSP4B	.	nonsynonymous SNV	OOSP4B:NM_001368161:exon2:c.C302G:p.T101S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs560285775	0.0012	0.0005	0.0011	0.0012	0.0016	0.0011	0.0010	0.0014	0.0014	0	0.0005	0.0001	0	0.0007	0	0.0016	0.0007	0	0.0008	0.0008	0.0008	0.0007	0.0015	0.0006	0.0006	0.0013	0.0012	0.0001	0	0.0001	0.0003	0.0002	9.436e-05	0	0.0015	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07175374	0.10621	T	.	.	.	.	.	.	.	.	.	0.0014541248420841051	0.00134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03200602	0.03145	0.069666065	0.14707	0.03200602	0.03144	0.069666065	0.14707	-3.224	0.12776	T	.	.	0.140	0.30660	B	.	.	-0.472612	0.01957	0.168	0.4297835191285489	0.03204	0.00261	0.01428	N	AEFI	.	.	.	.	.	.	.	.	.	9.46776892822059E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.0448725	0.03863	2.21	-3.34	0.04635	-0.695000	0.05211	-1.018000	0.06590	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.2839:0.3952:0.3209	3.762	0.08130	804	0.43891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1997.79	151	chr11	60024972	.	C	G	1997.79	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.885;DP=151;ExcessHet=0.0000;FS=1.340;MLEAC=4;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.277;SOR=0.863	GT:AD:DP:GQ:PL	0/1:58,87:145:99:1995,0,1139	3	0	1	17
chr11	60386730	60386730	G	A	exonic	MS4A7	.	nonsynonymous SNV	MS4A7:NM_206938:exon3:c.G161A:p.G54E	.	.	.	.	.	.	.	.	.	.	.	2346822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.185	M	2.02	T	0.190	D	0.528	D	0.896	1.713	11.69	3.81	2.132	3.602	11.412	0.449	0.0703340838963	0.0005	.	0.0004	9.614e-05	0.0003	0	0	0.0006	0.0022	0.0005	0.0004075	63	154602	rs36102108	0.0008	0.0008	0.0008	0.0007	0.0010	0.0008	0.0007	0.0009	0.0009	8.972e-05	0.0002	0	0	0	0	0.0010	0.0006	0.0004	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	0.0001	0	0	0	0	0	0	0.0007	0	0.0002	0.002	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	0.999995	0.58761	D	3.775	0.95212	H	2.02	0.69287	T	-7.44	0.96495	D	0.803	0.79889	0.190	0.85734	D	0.528	0.82453	D	10	0.62197685	0.68029	D	0.070334	0.70974	D	0.449	0.75004	.	.	0.811427828562	0.80966	0.8517652799886791	0.85138	0.233751173166	0.25910	0.402386009693	0.25401	T	0.249537	0.61951	T	0.0240561	0.54928	T	0.237151	0.85012	D	0.434992611408234	0.30245	T	0.788221	0.42759	T	0.91629344	0.92889	0.8361018	0.90583	0.91629344	0.92890	0.8361018	0.90583	-9.009	0.67756	D	.	.	0.894	0.82369	P	.;.;.;.;.	.;.;.;.;.	3.905753	0.56920	23.8	0.9905670037821741	0.51390	0.62983	0.31948	D	AEFBI	0.294447	0.40482	N	0.395960456902336	0.61204	4.318251	0.17431901744681	0.48444	3.060253	0.798273050782624	0.24139	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.81	3.81	0.43020	4.002000	0.56766	8.504000	0.77368	0.676000	0.76740	0.980000	0.35271	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	11.412	0.49171	826	0.39940	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	33	chr11	60386730	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.250e-01;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=1.33;SOR=0.668	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1218,0,1408	20	0	1	0
chr11	61259093	61259093	G	A	exonic	VWCE	.	nonsynonymous SNV	VWCE:NM_152718:exon20:c.C2450T:p.P817L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.019	B	0.002	B	0.150	N	1.000	N	1.7	L	3.27	T	-0.904	T	0.226	T	0.139	1.285	10.20	2.48	0.384	-0.741	6.773	0.014	.	.	0.00419329	0.0038	0.0002	8.663e-05	0	0	6.02e-05	0.0090	0.0269	0.0032276	499	154602	rs199774187	0.0017	0.0017	0.0009	0.0025	0.0261	0.0016	0.0016	0.0252	0.0248	0.0002	8.944e-05	0	0	1.872e-05	0.0010	5.216e-05	0.0020	0.0261	0.0008	0.0008	0.0004	0.0012	0.0233	0.0007	0.0006	0.0198	0.0185	0.0002	0	0	0	0	0	0.0034	1.47e-05	0	0.0233	0.062	0.36912	T	0.108	0.39645	T	0.019	0.17989	B	0.002	0.06944	B	0.150235	0.17992	N	0.409242	1	0.08975	N	1.055	0.26876	L	-0.57	0.71307	T	-1.59	0.46337	N	0.06	0.05037	-0.9041	0.47550	T	0.226	0.59083	T	10	0.0034775436	0.00062	T	.	.	.	0.014	0.01968	.	.	0.0611884634855	0.05136	0.2673556967037624	0.26648	0.207961850794	0.23260	0.268343091011	0.05925	T	0.014221	0.19032	T	-0.527152	0.00399	T	-0.509722	0.21343	T	0.0132216412871336	0.00235	T	0.463654	0.15494	T	0.03173548	0.03068	0.039300587	0.03991	0.023720885	0.01136	0.03907875	0.03920	-4.521	0.31162	T	.	.	0.084	0.09723	B	.;.;.	.;.;.	0.110370	0.05098	1.633	0.58570857526824205	0.06023	0.02995	0.07855	N	AEFDBI	0.053315	0.09597	N	-1.00735335399968	0.08451	0.396264	-1.05196771491435	0.08666	0.4272234	0.240926205521004	0.18570	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.42	2.48	0.29194	-0.868000	0.04345	-0.886000	0.07046	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1019:0.1956:0.7025:0.0	6.773	0.22789	549	0.72275	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1916.11	33	chr11	61259093	.	G	A	1916.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.78;DP=858;ExcessHet=0.1072;FS=1.958;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-9.800e-02;SOR=0.752	GT:AD:DP:GQ:PL	0/1:34,23:57:99:631,0,743	19	0	2	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,30:111:99:0|1:61740527_G_C:361,0,2224:61740527	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,30:109:99:0|1:61740527_G_C:366,0,2210:61740527	0	0	21	0
chr11	62664850	62664850	C	T	exonic	C11orf98;LBHD1	.	nonsynonymous SNV	C11orf98:NM_001286086:exon2:c.G163A:p.A55T	.	.	430	1091	1	0	0	1	0.000458085	0.0003	0.042	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.739	P	0.221	B	.	.	0.998	N	0.345	N	.	.	-1.076	T	0.038	T	0.396	1.940	12.44	2.94	0.722	0.783	6.347	0.021	0.0165875810886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.074e-07	1.368e-06	1.399e-06	0	9.201e-07	0	0	.	.	0	0	0	0	0	0	9.201e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.48186	D	0.085	0.42086	T	0.739	0.42933	P	0.221	0.37837	B	.	.	.	.	0.999147	0.22310	N	.	.	.	.	.	.	-4.81	0.80767	D	0.551	0.61172	-1.0758	0.08184	T	0.038	0.16333	T	8	0.26549524	0.44046	T	0.016588	0.37919	T	0.156	0.40720	0.047	0.00071	0.0138822411134	0.00435	0.015516402913256832	0.01507	0.0222234791578	0.02231	.	.	.	0.068938	0.33583	T	0.00896629	0.52884	T	-0.224897	0.52264	T	0.538087785243988	0.34033	D	0.446155	0.12501	T	0.28340375	0.51372	0.38772935	0.63634	0.28340375	0.51372	0.38772935	0.63634	-4.618	0.32410	T	.	.	0.263	0.49731	B	.;.;.	.;.;.	3.310298	0.45477	22.1	0.99153766430860901	0.53903	0.43307	0.27069	N	ALL	0.296475	0.40631	N	-0.38901818966673	0.25859	1.406909	-0.341902129841093	0.26759	1.48022	0.99999999991775	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.84	2.94	0.33188	0.832000	0.27143	.	.	-0.813000	0.03045	0.947000	0.32937	0.998000	0.33993	0.647000	0.32611	0.3318:0.5818:0.0:0.0864	6.347	0.20558	388	0.83355	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	359.98	38	chr11	62664850	.	C	T	359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.697;DP=766;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.145;SOR=1.264	GT:AD:DP:GQ:PL	0/1:35,19:54:99:374,0,777	20	0	1	0
chr11	63544767	63544767	G	A	exonic	PLAAT4	.	nonsynonymous SNV	PLAAT4:NM_004585:exon3:c.G265A:p.V89M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.911	D	0.491	N	1.000	N	2.325	M	1.93	T	-0.956	T	0.128	T	0.094	2.169	13.21	-1.52	-0.245	-0.398	6.823	0.076	0.00257810523988	8.1e-05	.	0.0001	0	8.639e-05	0	0	0.0002	0	6.056e-05	0.0001035	16	154602	rs374650684	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.236e-05	0	2.519e-05	0	0	0.0003	0.0001	2.319e-05	4.599e-05	4.597e-05	6.423e-05	2.689e-05	7.349e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	4.824e-05	0	0	0	0	0	0	7.349e-05	0	0	0.02	0.49613	D	0.219	0.49120	T	0.997	0.70673	D	0.911	0.64720	D	0.490804	0.05035	N	1.335590	1	0.08975	N	2.555	0.74557	M	1.93	0.22881	T	-1.66	0.41239	N	0.063	0.24135	-0.9555	0.40006	T	0.128	0.43503	T	10	0.119201005	0.22553	T	0.002578	0.05206	T	0.076	0.22200	.	.	0.12205267543	0.11705	0.366874803917683	0.36601	0.621815741039	0.56462	0.297786176205	0.10072	T	0.080508	0.36379	T	-0.474653	0.00795	T	-0.650283	0.08934	T	0.105553224682808	0.12957	T	0.219378	0.16166	T	0.04798367	0.08291	0.065290086	0.13212	0.04798367	0.08291	0.065290086	0.13212	-6.644	0.54179	T	.	.	0.180	0.39203	B	.;.;.	.;.;.	0.755616	0.11254	7.882	0.99427341613417186	0.64081	0.03612	0.08845	N	AEFDGBI	0.196812	0.32377	N	-0.506191687243517	0.21879	1.164366	-0.786015236952775	0.14838	0.7773837	0.0264716350308232	0.13714	0.626454	0.40138	0	0.80507	0.99744	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.29	-1.52	0.08181	-0.459000	0.06805	-2.768000	0.03381	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1807:0.3935:0.4258:0.0	6.823	0.23052	515	0.74782	.;LRAT-like domain;LRAT-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	926.98	34	chr11	63544767	.	G	A	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.166e+00;DP=802;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.571;SOR=0.784	GT:AD:DP:GQ:PL	0/1:48,44:92:99:941,0,1043	20	0	1	0
chr11	63765837	63765837	C	T	exonic	C11orf95	.	nonsynonymous SNV	C11orf95:NM_001144936:exon2:c.G607A:p.G203S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.49e-06	1.984e-05	2.918e-06	0	1.435e-05	2.5e-07	9e-08	.	.	0	0	0	0	0	0	0	1.79e-05	1.435e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32675	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-0.69	0.01958	N	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.043070644	0.03119	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.17983362552255222	0.17902	.	.	.	.	.	0.008744	0.08010	T	-0.264244	0.12407	T	-0.617345	0.11395	T	.	.	.	0.578742	0.20864	T	0.03402783	0.03740	0.09061341	0.21259	0.03402783	0.03740	0.09061341	0.21258	-5.027	0.37132	T	.	.	0.058	0.00647	B	.	.	-0.070240	0.03821	0.815	0.66538621673332365	0.08088	0.01517	0.05008	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.998002453845092	0.36301	0.156188	0.03335	0	0.108256	0.03340	2	0.076361	0.02342	2	0.221052	0.04502	0	0.142776	0.26883	4.58	-1.04	0.09555	-0.239000	0.08983	-0.204000	0.10916	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5771:0.0:0.4229	8.047	0.29717	561	0.71236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	36.98	34	chr11	63765837	.	C	T	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.322e+00;DP=721;ExcessHet=0.0000;FS=3.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.49;SOR=0.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:63765837_C_T:51,0,445:63765837	20	0	1	0
chr11	63765845	63765845	T	C	exonic	C11orf95	.	nonsynonymous SNV	C11orf95:NM_001144936:exon2:c.A599G:p.E200G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410661200	6.067e-06	7.569e-05	2.967e-06	9.31e-06	5.766e-06	2.61e-06	1.89e-06	2.07e-06	1.36e-06	0	0	0	0	2.456e-05	0	5.766e-06	1.828e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.61642	D	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.213	0.23758	.	.	.	.	.	.	.	0.049518704	0.04552	T	.	.	.	.	.	.	.	0.117506650769	0.11410	0.3624302438577537	0.36157	.	.	.	.	.	0.025406	0.19004	T	-0.0653304	0.42072	T	-0.331619	0.41290	T	.	.	.	0.537446	0.18074	T	0.141736	0.32647	0.27861717	0.53824	0.141736	0.32647	0.27861717	0.53823	-4.571	0.31805	T	.	.	0.089	0.12181	B	.	.	2.945737	0.39182	20.9	0.65179202644400647	0.07700	0.16136	0.19248	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.995044692152635	0.33924	0.156188	0.03335	0	0.108256	0.03340	2	0.076361	0.02342	2	0.221052	0.04502	0	0.131079	0.25843	4.58	2.25	0.27340	1.035000	0.29824	4.105000	0.41886	0.580000	0.29708	0.013000	0.18845	1.000000	0.68203	0.046000	0.14843	0.0:0.1968:0.0:0.8032	6.942	0.23675	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	36.98	34	chr11	63765845	.	T	C	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.569e+00;DP=721;ExcessHet=0.0000;FS=3.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.29;SOR=0.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:63765837_C_T:51,0,445:63765837	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/3:50,3,0,38:91:99:1372,1435,3629,1548,3565,3666,0,1928,2053,1929	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/3:50,3,0,38:91:99:1372,1435,3629,1548,3565,3666,0,1928,2053,1929	10	0	4	0
chr11	65864799	65864799	T	A	exonic	MUS81	.	nonsynonymous SNV	MUS81:NM_001350283:exon12:c.T1259A:p.L420Q	.	.	.	.	.	.	.	.	.	.	.	2203496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	1.000	D	2.97	M	1.98	T	-0.693	T	0.191	T	0.947	4.056	20.8	4.68	1.007	5.380	11.396	0.531	0.112276966369	7.7e-05	.	7.512e-05	0	8.72e-05	0	0	9.11e-05	0	0.0001	6.47e-05	10	154602	rs369437234	2.807e-05	2.873e-05	2.043e-05	3.578e-05	0.0003	2.088e-05	1.879e-05	6.092e-05	2.521e-05	0	4.473e-05	0.0003	0	0	0.0003	1.979e-05	9.937e-05	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	1.72	0.26588	T	-5.43	0.86836	D	0.82	0.81957	-0.6933	0.60754	T	0.191	0.54301	T	10	0.7915462	0.78704	D	0.112277	0.79036	D	0.531	0.80247	.	.	0.781694995975	0.77968	0.7782769532952336	0.77777	0.539398488263	0.51172	0.638493299484	0.58349	T	0.643245	0.89085	D	0.145063	0.68805	D	0.152124	0.80319	D	0.765152037143707	0.44151	D	0.865313	0.56692	D	0.9584632	0.97125	0.8217088	0.89648	0.9584632	0.97126	0.8217088	0.89649	-12.833	0.88663	D	.	.	0.643	0.72540	P	.;.	.;.	4.838313	0.78968	27.0	0.99294931310135481	0.58397	0.94928	0.62818	D	AEFBCI	0.743058	0.68648	D	0.675733812892264	0.78042	6.792642	0.601886626346142	0.75076	6.247	0.999999943704468	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.82	4.68	0.58319	7.136000	0.76885	7.847000	0.70787	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.1517:0.8483	11.396	0.49084	237	0.90758	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1200.98	39	chr11	65864799	.	T	A	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=836;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.66;ReadPosRankSum=0.675;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,32:68:99:0|1:65864791_G_T:1215,0,1375:65864791	20	0	1	0
chr11	65883572	65883572	G	A	exonic	CTSW	.	nonsynonymous SNV	CTSW:NM_001335:exon10:c.G1085A:p.R362H,	.	.	.	.	.	.	.	.	.	.	.	3246349	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.969	D	0.806	P	0.337	N	1.000	N	0.895	L	-0.79	T	-0.744	T	0.318	T	0.302	3.336	17.23	0.271	0.140	-0.048	6.223	0.237	0.0258788413338	.	.	7.416e-05	0	8.637e-05	0	0	8.995e-05	0	0.0001	6.47e-05	10	154602	rs760246700	4.173e-05	4.241e-05	3.812e-05	4.538e-05	0.0007	3.31e-05	3.001e-05	0.0002	0.0001	2.987e-05	4.473e-05	0.0003	0	0	0.0007	3.238e-05	0.0001	2.319e-05	3.944e-05	3.94e-05	2.57e-05	5.383e-05	6.55e-05	1.716e-05	1.13e-05	1.972e-05	1.125e-05	0	0	6.55e-05	0	0	0	0	5.882e-05	0.0005	0	0.323	0.13436	T	0.03	0.54159	D	0.969	0.56768	D	0.806	0.58437	P	0.337371	0.14018	N	0.647331	1	0.19486	N	0.695	0.17993	N	-0.79	0.73739	T	-1.18	0.30140	N	0.223	0.25006	-0.7441	0.58242	T	0.318	0.68744	T	10	0.24328187	0.41539	T	0.025879	0.48826	D	0.237	0.54074	0.574	0.69826	0.691303702142	0.68865	0.5949632909665622	0.59426	0.0898432174179	0.10143	0.276976495981	0.07074	T	0.147844	0.48612	T	-0.238813	0.15499	T	-0.389132	0.34653	T	0.214769408106804	0.21200	T	0.613539	0.23382	T	0.03248062	0.03282	0.03513442	0.02707	0.03248062	0.03281	0.03513442	0.02707	-4.552	0.31563	T	.	.	0.128	0.27192	B	.	.	2.071850	0.26345	17.09	0.99740129504231712	0.83409	0.05318	0.11169	N	AEFGBI	0.142588	0.26507	N	-0.4114688664884	0.25066	1.357997	-0.593902567601813	0.19651	1.055304	0.999852595158402	0.44174	0.460665	0.09802	0	0.577304	0.33150	0	0.572659	0.19721	0	0.491896	0.07777	0	.	.	5.18	0.271	0.14894	-0.045000	0.11957	0.008000	0.13396	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.0965:0.0:0.3491:0.5544	6.223	0.19907	239	0.90673	Peptidase C1A, papain C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1064.98	33	chr11	65883572	.	G	A	1064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.920e-01;DP=854;ExcessHet=0.0000;FS=2.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.334e+00;SOR=0.466	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1079,0,1171	20	0	1	0
chr11	66043162	66043162	T	A	exonic	GAL3ST3	.	nonsynonymous SNV	GAL3ST3:NM_033036:exon3:c.A641T:p.E214V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.918	P	0.604	P	0.000	D	1.000	D	1.34	L	2.34	T	-1.146	T	0.051	T	0.246	3.965	20.3	4.51	1.800	5.065	12.099	0.085	0.0301918597068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.14	0.33554	T	0.918	0.50838	P	0.604	0.50922	P	0.000082	0.51296	D	0.090432	0.99958	0.47691	D	1.675	0.43121	L	2.34	0.16351	T	-2.63	0.56466	D	0.135	0.19728	-1.1457	0.01159	T	0.051	0.21883	T	10	0.28215906	0.45793	T	0.030192	0.52551	D	0.085	0.24743	0.434	0.48500	0.576146575425	0.57282	0.7041189549668719	0.70353	1.67543599293	0.89921	0.729408562183	0.71419	T	0.011988	0.10611	T	-0.173835	0.24656	T	-0.487479	0.23655	T	0.981696248054504	0.74058	D	0.713629	0.32527	T	0.39131463	0.60125	0.24809694	0.50354	0.39131463	0.60126	0.24809694	0.50353	-3.831	0.21268	T	.	.	0.657	0.71221	P	.;.	.;.	4.303885	0.65734	24.9	0.98988377576585085	0.49882	0.99061	0.90654	D	AEFDGBHCI	0.679008	0.64318	D	0.339300806915904	0.58177	3.988516	0.354996453620849	0.58809	4.053879	0.999999999834287	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.51	4.51	0.54589	4.957000	0.63358	4.153000	0.42161	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:0.0:1.0	12.099	0.53072	199	0.92292	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1026.98	48	chr11	66043162	.	T	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-02;DP=853;ExcessHet=0.0000;FS=2.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=0.653;SOR=0.768	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1041,0,1325	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	0/3:52,0,0,34:89:99:1431,1590,3735,1590,3735,3735,0,2145,2145,2028	5	4	8	0
chr11	67455491	67455491	C	T	exonic	CABP4	.	nonsynonymous SNV	CABP4:NM_145200:exon1:c.C68T:p.A23V,	Cone-rod synaptic disorder, congenital nonprogressive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1641434	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	0.128	N	1.000	N	-0.695	N	-0.24	T	-1.035	T	0.084	T	0.05	0.588	7.173	-4.66	-1.092	-0.976	3.488	0.058	0.042586688134	7.8e-05	.	4.637e-05	0	0.0001	0	0	6.234e-05	0	0	3.23e-05	5	154602	rs371921931	4.259e-05	4.378e-05	3.278e-05	5.251e-05	0.0006	3.39e-05	3.077e-05	0.0005	0.0004	0	0.0006	0	0	1.926e-05	0.0004	2.342e-05	4.987e-05	2.346e-05	0.0003	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0017	0.0015	0	0	0.0023	0	0	0	0	5.881e-05	0	0	0.435	0.09401	T	0.286	0.21277	T	0.0	0.02946	B	0.0	0.01387	B	0.128297	0.02786	N	1.907910	1	0.08975	N	-0.255	0.03828	N	-0.24	0.66834	T	-0.27	0.11366	N	0.064	0.03613	-1.0351	0.18825	T	0.084	0.32900	T	10	0.01634577	0.00344	T	0.042587	0.60541	D	0.058	0.16647	.	.	0.43656330218	0.43278	0.1658108290071858	0.16501	0.067115271227	0.07497	0.339542806149	0.16370	T	0.070778	0.34046	T	-0.561919	0.00247	T	-0.676184	0.07219	T	0.00933659782798271	0.00119	T	0.447355	0.12562	T	0.020712702	0.00640	0.02943353	0.01280	0.019550644	0.00488	0.03239536	0.01968	-4.592	0.32071	T	.	.	0.076	0.06114	B	.	.	-0.448678	0.02037	0.184	0.64071664964472164	0.07394	0.00515	0.02406	N	AEFBI	0.034178	0.04190	N	-1.48093347379676	0.01984	0.08716396	-1.49994510465426	0.02345	0.1077259	0.85262374496987	0.25073	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.62	-4.66	0.03090	-0.868000	0.04345	-4.376000	0.02188	-0.427000	0.05212	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.4265:0.2544:0.0:0.3191	3.488	0.07189	698	0.58074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	839.98	33	chr11	67455491	.	C	T	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=766;ExcessHet=0.0000;FS=0.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-5.410e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/1:31,36:67:99:854,0,740	20	0	1	0
chr11	67489405	67489405	G	A	exonic	AIP	.	nonsynonymous SNV	AIP:NM_001302959:exon3:c.G241A:p.A81T	Pituitary adenoma, ACTH-secreting, Autosomal recessive;Pituitary adenoma, growth hormone-secreting, Autosomal dominant, Somatic mutation;Pituitary adenoma, prolactin-secreting	.	0	1521	1	0	0	1	0.000328623	.	.	1047425	Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.037	B	0.007	B	0.000	D	0.955	D	-0.345	N	-2.84	D	-0.247	T	0.475	T	0.229	3.328	17.19	5.54	2.601	4.419	18.038	0.312	0.137261162603	.	.	8.439e-06	0	0	0	0	0	0	6.069e-05	6.5e-06	1	154602	rs751771656	6.162e-06	6.156e-06	8.175e-06	4.129e-06	1.159e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	0.034	0.52727	D	.	.	.	.	.	.	0.000129	0.49741	D	0.130688	0.954768	0.37893	D	.	.	.	-2.84	0.91305	D	-0.12	0.08809	N	0.21	0.23380	-0.2469	0.76443	T	0.475	0.79852	T	10	0.25717762	0.43130	T	0.137261	0.81975	D	0.312	0.63375	0.477	0.55502	0.581869756922	0.57858	0.2766826255512786	0.27581	0.345502311902	0.36457	0.33363199234	0.15482	T	0.01604	0.13338	T	-0.060767	0.42788	T	-0.22821	0.51945	T	0.344336162694068	0.26796	T	0.750125	0.37153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.04316	B	.;.	.;.	3.851858	0.55800	23.7	0.99804453340787813	0.88906	0.91025	0.52714	D	AEFGBCI	0.763160	0.70035	D	-0.136109987679002	0.35828	2.062922	0.107447825690376	0.44928	2.765222	0.999999693871104	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.518000	0.60227	6.679000	0.56304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:1.0:0.0	18.038	0.89233	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	34	chr11	67489405	.	G	A	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=766;ExcessHet=0.0000;FS=3.410;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.31;ReadPosRankSum=-2.500e-02;SOR=1.153	GT:AD:DP:GQ:PL	0/1:46,24:70:99:456,0,1048	20	0	1	0
chr11	72710473	72710473	C	T	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon8:c.G593A:p.R198H	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.011	B	0.008	B	0.369	N	1.000	N	1.355	L	-0.05	T	-0.928	T	0.161	T	0.144	2.234	13.43	-3.95	-0.546	-1.821	13.678	0.084	0.0306769736226	.	.	3.305e-05	0	0.0002	0	0	0	0.0011	6.057e-05	2.59e-05	4	154602	rs750813767	3.078e-05	3.078e-05	2.45e-05	3.713e-05	0.0007	2.347e-05	2.095e-05	0.0002	0.0001	8.961e-05	8.945e-05	0	0	0	0.0007	2.248e-05	1.656e-05	9.275e-05	5.259e-05	5.253e-05	5.139e-05	5.384e-05	0.0001	2.558e-05	1.831e-05	2.847e-05	1.858e-05	2.414e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.097	0.33923	T	0.133	0.34359	T	0.002	0.15914	B	0.002	0.13708	B	0.368513	0.13563	N	0.723627	0.999997	0.08975	N	0.625	0.15840	N	-0.05	0.63403	T	-2.41	0.54702	N	0.158	0.24883	-0.9279	0.44444	T	0.161	0.49615	T	10	0.06933373	0.09933	T	0.030677	0.52936	D	0.084	0.24469	0.49	0.57573	0.139678290688	0.13603	0.32059180304512275	0.31972	0.393755123033	0.40548	0.272009730339	0.06404	T	0.337501	0.70688	T	-0.35679	0.04315	T	-0.524579	0.19831	T	0.0576463270975936	0.06792	T	0.785621	0.42343	T	0.042336345	0.06401	0.06178913	0.11986	0.042336345	0.06400	0.06178913	0.11985	-10.532	0.77060	D	.	.	0.061	0.17232	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.577418	0.01634	0.113	0.99175941338875895	0.54527	0.05117	0.10921	N	AEFBCI	0.056065	0.10334	N	-0.988214362440379	0.08854	0.4167916	-1.05064882878232	0.08694	0.4287125	0.942981737392071	0.27547	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	-3.95	0.03844	-1.875000	0.01726	-8.430000	0.00971	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.0:0.2553:0.0:0.7447	13.678	0.61945	452	0.79239	.;.;.;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1243.98	40	chr11	72710473	.	C	T	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=829;ExcessHet=0.0000;FS=2.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-6.800e-01;SOR=0.915	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1258,0,1393	20	0	1	0
chr11	73311687	73311687	G	A	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.G3049A:p.G1017S,	.	.	.	.	.	.	.	.	.	.	.	2425432	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.004	B	0.003	B	0.256	N	1.000	N	0.205	N	0.51	T	-1.036	T	0.078	T	0.072	1.098	9.479	1.66	0.643	1.039	9.341	0.036	0.0130843412648	7.7e-05	.	5.001e-05	0	0	0	0	6.091e-05	0	0.0001	5.17e-05	8	154602	rs377437143	3.627e-05	3.694e-05	3.269e-05	3.99e-05	4.496e-05	2.829e-05	2.566e-05	3.459e-05	3.121e-05	0	0	0	0	0	0	4.496e-05	1.656e-05	2.319e-05	5.913e-05	5.91e-05	7.707e-05	4.034e-05	0.0002	3.077e-05	2.21e-05	5.841e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.449	0.09022	T	0.677	0.06166	T	0.004	0.12183	B	0.003	0.08700	B	0.255833	0.15414	N	0.606749	1	0.08975	N	0.11	0.08516	N	0.51	0.55439	T	0.29	0.04161	N	0.082	0.05799	-1.0365	0.18388	T	0.078	0.31133	T	10	0.04190576	0.02889	T	0.013084	0.32199	T	0.036	0.09122	.	.	0.359705090764	0.35578	0.22936051750225495	0.22851	0.381911273025	0.39535	0.310047626495	0.11914	T	0.007962	0.07329	T	-0.376578	0.03273	T	-0.597177	0.13048	T	0.0449091900364645	0.04586	T	0.675032	0.28342	T	0.035405096	0.04159	0.033773147	0.02329	0.035405096	0.04159	0.033773147	0.02329	-3.149	0.11867	T	.	.	0.072	0.04396	B	.	.	1.340480	0.17468	13.18	0.97495966938565359	0.34267	0.55449	0.29867	D	AEFDGBHI	0.219047	0.34398	N	-0.784073452564689	0.13725	0.6782061	-0.72573207465776	0.16321	0.8628338	0.999990074916056	0.74766	0.740716	0.97744	0	0.586065	0.33999	0	0.0	0.00061	3	0.638787	0.57140	0	.	.	5.29	1.66	0.23081	1.071000	0.30278	2.050000	0.30341	0.676000	0.76740	0.672000	0.28366	0.974000	0.29927	0.041000	0.14368	0.3209:0.0:0.6791:0.0	9.341	0.37238	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1176.98	44	chr11	73311687	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-1.048e+00;SOR=0.629	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1191,0,1245	20	0	1	0
chr11	75429936	75429936	G	A	exonic	KLHL35	.	nonsynonymous SNV	KLHL35:NM_001039548:exon1:c.C694T:p.R232C,	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.939	D	0.195	N	1.000	N	2.145	M	-0.41	T	-0.733	T	0.360	T	0.455	3.280	17.01	2.34	0.436	2.030	4.365	0.262	0.641029159092	.	0.000998403	0.0025	0	0.0063	0	0	0	0	0.0037	0.0002781	43	154602	rs551557850	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0026	0.0025	3.835e-05	0.0002	0	3.548e-05	0	0.0012	9.353e-05	0.0005	0.0029	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	0	0	6.544e-05	0	0.0002	0	0.0034	5.885e-05	0.0009	0.0035	0.205	0.22573	T	0.15	0.37589	T	.	.	.	.	.	.	0.195368	0.16738	N	0.578564	0.999891	0.19781	N	.	.	.	-0.41	0.69413	T	-1.34	0.38345	N	0.152	0.20262	-0.7333	0.58796	T	0.360	0.72163	T	10	0.0089455545	0.00202	T	0.641029	0.96940	D	0.262	0.57482	.	.	0.441844919209	0.43804	0.36996556112159346	0.36910	0.0983695897329	0.11110	0.905556023121	0.97033	D	0.27249	0.64488	T	-0.333613	0.05843	T	-0.25598	0.49223	T	0.150394034648191	0.17135	T	0.813919	0.46746	T	0.1207513	0.28409	0.12527245	0.30185	0.1207513	0.28408	0.12527245	0.30185	-8.129	0.61946	D	.	.	0.164	0.44579	B	.;.	.;.	4.183772	0.63000	24.5	0.99801720000296634	0.88639	0.72560	0.35511	D	ALL	0.459403	0.51002	N	0.320569898658909	0.57205	3.887029	0.232744350982989	0.51673	3.347849	0.999999999997827	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.24	2.34	0.28071	2.205000	0.42407	4.507000	0.43632	0.562000	0.28470	0.695000	0.28578	1.000000	0.68203	0.959000	0.51448	0.203:0.1891:0.608:0.0	4.365	0.10655	773	0.48803	BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2886.11	33	chr11	75429936	.	G	A	2886.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=895;ExcessHet=0.1072;FS=0.985;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.921;SOR=0.636	GT:AD:DP:GQ:PL	0/1:89,68:157:99:1670,0,2107	19	0	2	0
chr11	76140770	76140770	G	T	exonic	UVRAG	.	nonsynonymous SNV	UVRAG:NM_003369:exon15:c.G1457T:p.G486V,	.	.	425	1087	9	1	0	11	0.00503432	.	.	713182	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.328	B	0.104	B	0.034	N	1.000	D	0.345	N	0.78	T	-1.093	T	0.068	T	0.32	0.315	5.708	3.56	0.731	3.185	9.638	0.026	0.0106957493487	0.0034	0.000798722	0.0027	0.0004	0.0015	0	0.0020	0.0038	0.0034	0.0019	0.0027102	419	154602	rs77892162	0.0039	0.0039	0.0040	0.0039	0.0070	0.0038	0.0038	0.0052	0.0047	0.0005	0.0021	0.0056	0	0.0017	0.0070	0.0045	0.0035	0.0020	0.0028	0.0028	0.0027	0.0029	0.0042	0.0026	0.0025	0.0038	0.0037	0.0005	0	0.0034	0.0052	0	0.0025	0	0.0042	0.0052	0.0019	0.224	0.20002	T	0.224	0.26306	T	0.003	0.11197	B	0.003	0.08700	B	0.033922	0.24835	N	0.473930	0.999971	0.54805	D	1.59	0.40313	L	0.78	0.49358	T	-0.4	0.17003	N	0.114	0.13484	-1.0935	0.04974	T	0.068	0.27743	T	10	0.004639685	0.00097	T	0.010696	0.27536	T	0.026	0.05648	.	.	0.151262610727	0.14761	0.3647018448476487	0.36384	0.367113579311	0.38276	0.390290260315	0.23710	T	0.026451	0.29465	T	-0.434226	0.01398	T	-0.395007	0.33966	T	0.00994888201454697	0.00132	T	0.825817	0.48860	T	0.03862857	0.05182	0.057142876	0.10335	0.03862857	0.05182	0.057142876	0.10334	-3.981	0.24713	T	.	.	0.091	0.28492	B	.;.;.;.;.	.;.;.;.;.	2.649948	0.34500	19.64	0.85211953798192897	0.15754	0.79742	0.39574	D	AEFBCI	0.153697	0.27860	N	-0.378172690215141	0.26248	1.431094	-0.243420116895128	0.29997	1.685314	0.526620576436642	0.21141	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.54	3.56	0.39892	3.247000	0.51123	4.446000	0.43404	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.405000	0.26894	0.0:0.1387:0.5743:0.287	9.638	0.38989	380	0.83728	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1540.98	34	chr11	76140770	.	G	T	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.816e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.085;SOR=0.689	GT:AD:DP:GQ:PL	0/1:49,71:120:99:1555,0,1014	20	0	1	0
chr11	76546239	76546239	G	A	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon20:c.G3719A:p.R1240H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.147	B	0.009	B	0.081	N	1.000	D	-0.345	N	.	.	-1.038	T	0.074	T	0.619	2.002	12.65	5.15	1.574	2.296	9.398	0.130	0.00233498266096	.	.	5.001e-05	9.972e-05	0	0	0.0003	1.515e-05	0	0.0001	3.88e-05	6	154602	rs775396242	1.3e-05	1.3e-05	9.529e-06	1.65e-05	8.961e-05	8.31e-06	6.7e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	5.617e-05	0	7.195e-06	3.311e-05	3.479e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.414e-05	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0.0002	0	0	0	0	0.185	0.35726	T	0.167	0.31527	T	0.004	0.12183	B	0.001	0.04355	B	0.080972	0.20893	N	0.543300	0.981828	0.81001	D	0	0.06538	N	.	.	.	-1.23	0.31170	N	0.251	0.28381	-1.0385	0.17771	T	0.074	0.29834	T	9	0.12562853	0.23875	T	0.002335	0.04507	T	0.286	0.60456	.	.	0.0934897674506	0.08844	0.14878667684364474	0.14800	0.0791623941424	0.08904	.	.	.	0.028114	0.30280	T	-0.0929815	0.37582	T	-0.18981	0.55608	T	0.0807030722498894	0.10077	T	0.927007	0.75150	D	0.037908927	0.04951	0.04186062	0.04853	0.037908927	0.04951	0.04186062	0.04853	-2.899	0.09133	T	.	.	0.094	0.17785	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.603582	0.50915	23.0	0.97012862812725997	0.31993	0.76864	0.37733	D	AEFDGBI	0.151838	0.27639	N	0.0463649084956424	0.43974	2.68012	0.20240812210572	0.49980	3.195016	0.565082174451065	0.21446	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.06	5.15	0.70287	2.336000	0.43597	8.665000	0.77987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2226:0.0:0.7774:0.0	9.398	0.37578	840	0.37365	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1204.98	34	chr11	76546239	.	G	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=-2.420e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1219,0,1472	20	0	1	0
chr11	86415120	86415120	C	G	exonic	CCDC81	.	nonsynonymous SNV	CCDC81:NM_021827:exon12:c.C1228G:p.P410A	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.006	B	0.025	N	1.000	N	0	N	1.1	T	-1.078	T	0.042	T	0.083	-0.279	2.664	-10.4	-1.585	-0.876	6.643	0.019	0.00788518401802	0.0002	0.000399361	0.0007	0	0	0	0	0.0002	0.0022	0.0044	0.0005951	92	154602	rs145739398	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0034	0.0033	0	0	0	0	7.488e-05	0.0007	0.0001	0.0004	0.0038	0.0002	0.0002	0.0002	0.0003	0.0044	0.0002	0.0001	0.0029	0.0024	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0044	0.944	0.03451	T	0.758	0.12211	T	0.0	0.09854	B	0.001	0.12133	B	0.024586	0.01614	N	1.935030	1	0.08975	N	0	0.06538	N	1.1	0.39050	T	0.06	0.09627	N	0.148	0.21839	-1.0778	0.07781	T	0.042	0.18243	T	9	0.0034432411	0.00061	T	0.007885	0.20903	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.03840143848920956	0.03786	0.133221467651	0.15002	0.210078492761	0.00815	T	8.0E-4	0.00390	T	-0.661201	0.00062	T	-0.723702	0.04619	T	0.00709212495462494	0.00081	T	0.0611939	0.00449	T	0.018393952	0.00360	0.031389177	0.01720	0.018393952	0.00360	0.031389177	0.01720	-3.405	0.18553	T	.	.	0.06	0.00934	B	.;.;.	.;.;.	-2.438294	0.00037	0.001	0.2216645138397858	0.00879	0.00454	0.02197	N	AEFDBI	0.020198	0.00774	N	-1.92257031304594	0.00308	0.01324657	-1.9876045438552	0.00325	0.01436125	0.999850099849719	0.44174	0.553676	0.25195	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.86	-10.4	0.00257	-0.857000	0.04394	-5.790000	0.01595	-1.776000	0.00658	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.134:0.1535:0.6442:0.0684	6.643	0.22108	861	0.33516	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	924.98	41	chr11	86415120	.	C	G	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.177e+00;DP=811;ExcessHet=0.0000;FS=1.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=1.16;SOR=0.484	GT:AD:DP:GQ:PL	0/1:53,48:101:99:939,0,1284	20	0	1	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.924	P	0.649	P	0.001	D	0.906	D	1.1	L	1.33	T	-1.000	T	0.090	T	0.504	2.394	13.96	4.98	1.502	4.230	10.392	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	351.81	55	chr11	94618061	.	G	C	351.81	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.574e+00;DP=1213;ExcessHet=1.7912;FS=147.073;InbreedingCoeff=-0.2177;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.407;SOR=10.626	GT:AD:DP:GQ:PL	0/1:50,25:75:79:79,0,702	14	0	6	1
chr11	95026776	95026776	T	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1219G:p.F407V,	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.003	B	.	.	1.000	N	0.345	N	1.77	T	-0.989	T	0.019	T	0.132	-0.476	1.807	-1.49	-0.428	-0.016	2.449	0.003	.	0.0072	0.00279553	0.0059	0.0006	0.0099	0	0	0.0068	0	0.0065	0.0020116	311	154602	rs143234858	0.0104	0.0098	0.0105	0.0102	0.0120	0.0102	0.0102	0.0118	0.0117	0.0016	0.0037	0.0005	0	0.0107	0.0026	0.0120	0.0085	0.0047	0.0068	0.0068	0.0074	0.0061	0.0113	0.0064	0.0063	0.0107	0.0104	0.0019	0	0.0032	0.0009	0	0.0093	0.0034	0.0113	0.0066	0.0033	0.436	0.09374	T	0.333	0.18395	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.77	0.25841	T	0.79	0.01893	N	0.097	0.07811	-0.9890	0.32853	T	0.019	0.07846	T	9	0.004265785	0.00085	T	.	.	.	0.003	0.00094	.	.	0.043077524339	0.03247	0.15765746771663278	0.15686	0.463039974516	0.45817	0.356590986252	0.18889	T	0.001397	0.00857	T	-0.666727	0.00057	T	-0.719452	0.04823	T	0.000738389523539531	0.00007	T	0.217178	0.02724	T	0.02557602	0.01512	0.033147153	0.02162	0.02557602	0.01512	0.033147153	0.02161	-2.47	0.05580	T	.	.	0.080	0.07650	B	.	.	-0.385564	0.02267	0.234	0.33409785763846811	0.01988	0.00132	0.00814	N	AEFDBI	0.024669	0.01565	N	-1.29220034184438	0.03768	0.168928	-1.37451679846921	0.03525	0.1646331	0.536882318896718	0.21221	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	-1.49	0.08259	-0.394000	0.07357	-4.566000	0.02092	-1.134000	0.01451	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4209:0.3167:0.2625	2.449	0.04238	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5363.68	39	chr11	95026776	.	T	G	5363.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.501;DP=1182;ExcessHet=0.3300;FS=2.431;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-3.490e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:43,62:105:99:1452,0,963	18	0	3	0
chr11	95835367	95835367	A	G	exonic	MTMR2	.	nonsynonymous SNV	MTMR2:NM_016156:exon15:c.T1855C:p.S619P	Charcot-Marie-Tooth disease, type 4B1, Autosomal recessive	.	1	1477	40	4	0	48	0.0159893	.	.	231812	MTMR2-related_disorder|not_provided|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4B1|Charcot-Marie-Tooth_disease_type_4	.|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0011066,MedGen:C1832399,OMIM:601382,Orphanet:99955|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.002	B	0.002	B	0.000	D	1.000	D	1.355	L	-3.63	D	0.193	D	0.736	D	0.442	2.317	13.70	6.17	2.371	1.288	7.011	0.372	.	0.0016	0.00399361	0.0030	9.634e-05	0.0011	0	0.0017	0.0026	0.0022	0.0101	0.0029301	453	154602	rs116750638	0.0021	0.0021	0.0018	0.0025	0.0098	0.0021	0.0020	0.0093	0.0091	0.0002	0.0013	0.0033	5.039e-05	0.0021	0.0059	0.0016	0.0024	0.0098	0.0020	0.0020	0.0020	0.0021	0.0133	0.0018	0.0018	0.0107	0.0097	0.0004	0	0.0020	0.0055	0.0002	0.0008	0.0102	0.0024	0.0009	0.0133	0.069	0.35537	T	0.248	0.23845	T	0.002	0.09854	B	0.002	0.06944	B	0.000091	0.51296	D	0.202843	0.998256	0.48079	D	1.67	0.42885	L	-3.63	0.95984	D	-2.28	0.50830	N	0.125	0.13769	0.193	0.85786	D	0.736	0.90983	D	10	0.0077272058	0.00175	T	.	.	.	0.372	0.69102	.	.	0.944764497742	0.94418	0.5595205592317944	0.55879	0.467842068209	0.46150	0.568110406399	0.48410	T	0.491021	0.81557	T	-0.17215	0.24910	T	-0.0122396	0.69539	D	0.0243959395278633	0.01194	T	0.907509	0.67274	D	0.33594596	0.55954	0.4682053	0.69152	0.28237277	0.51275	0.46881017	0.69190	-6.111	0.48824	T	.	.	0.319	0.58197	B	.;.;.;.;.	.;.;.;.;.	3.875525	0.56290	23.7	0.99573003205197541	0.72501	0.89537	0.50064	D	AEFBI	0.462859	0.51202	N	-0.0352593490406058	0.40263	2.388136	0.162877497370997	0.47829	3.007267	0.99999953904504	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	1.278000	0.32784	6.912000	0.56902	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.652:0.122:0.0:0.226	7.011	0.24042	909	0.22467	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1199.98	33	chr11	95835367	.	A	G	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.650e-01;DP=826;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.51;ReadPosRankSum=-1.658e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/1:81,60:141:99:1214,0,1835	20	0	1	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,52,4:122:99:.:.:1016,0,2414,1223,2077,4090	0	17	3	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N	.	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.005	B	0.513	N	1.000	N	1.445	L	1.81	T	-1.009	T	0.043	T	0.068	-0.245	2.822	-1.45	-0.064	-1.395	0.874	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4390.11	34	chr11	96384356	.	C	T	4390.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1130;ExcessHet=0.1072;FS=4.407;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=2.60;SOR=0.636	GT:AD:DP:GQ:PL	0/1:83,77:160:99:1751,0,1636	19	0	2	0
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.74	M	.	.	0.160	D	0.554	D	0.856	3.217	16.78	5.85	2.773	4.349	19.761	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	.	.	.	.	.	.	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	0.08333	189.24	70	chr11	102083149	.	C	T	189.24	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.124e+00;DP=957;ExcessHet=0.3300;FS=358.384;InbreedingCoeff=-0.1253;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=-1.140e-01;SOR=8.862	GT:AD:DP:GQ:PL	0/1:72,30:102:56:56,0,1120	15	0	3	3
chr11	103996064	103996064	C	T	splicing	PDGFD	NM_033135:exon3:c.492+1G>A;NM_025208:exon3:c.510+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.548	24.6	5.97	2.831	7.487	20.406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457921	0.92833	D	0.419996	0.92744	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.648634	0.92795	33	0.99558094896803184	0.71583	0.98479	0.83212	D	AEFDGIJ	.	.	.	1.22267967803679	0.99731	25.92947	1.09129805062731	0.99742	26.108	0.999999999969578	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.989814	0.98528	5.97	5.97	0.96935	7.568000	0.81546	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.406	0.99010	892	0.26670	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1238.98	39	chr11	103996064	.	C	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.723;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=0.691;SOR=0.726	GT:AD:DP:GQ:PL	0/1:33,49:82:99:1253,0,737	20	0	1	0
chr11	108331989	108331989	A	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon52:c.A7740C:p.R2580S	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	YES	.	.	.	.	.	.	.	.	.	132905	not_provided|Ovarian_cancer|Familial_cancer_of_breast|ATM-related_disorder|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.003	B	0.000	D	1.000	D	2.045	M	-1.2	T	-0.713	T	0.317	T	0.598	0.742	7.937	2.08	0.604	0.760	6.687	0.363	0.10685354457	.	0.000599042	4.13e-05	0	0.0002	0	0	4.508e-05	0	0	5.82e-05	9	154602	rs199915459	6.089e-05	6.088e-05	6.126e-05	6.051e-05	0.0005	5.028e-05	4.672e-05	0.0004	0.0003	0.0001	0.0005	0	0	0	0.0002	3.777e-05	0.0003	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0020	0.0002	0.0002	0.0015	0.0013	7.215e-05	0	0.0020	0	0	0	0	8.819e-05	0.0024	0	0.132	0.26519	T	0.841	0.03600	T	0.001	0.07471	B	0.003	0.08700	B	0.000070	0.52346	D	0.186382	1	0.81001	D	2.71	0.79292	M	-1.2	0.78537	T	-0.98	0.25986	N	0.345	0.52386	-0.7134	0.59786	T	0.317	0.68637	T	10	0.026328593	0.00802	T	0.106854	0.78266	D	0.363	0.68319	0.496	0.58520	0.757967309945	0.75577	0.5729483782031736	0.57222	0.142587795851	0.16085	0.447275221348	0.31573	T	0.050935	0.28737	T	-0.156566	0.27288	T	-0.160952	0.58266	T	0.03757357264184	0.03256	T	0.680832	0.28956	T	0.16546224	0.36820	0.13712975	0.32785	0.16546224	0.36819	0.13712975	0.32784	-3.618	0.18118	T	.	.	0.285	0.51772	B	.;.	.;.	2.195376	0.27999	17.65	0.85510436981201221	0.15938	0.79418	0.39350	D	AEFBI	0.244151	0.36531	N	-0.581005209925124	0.19521	1.022373	-0.502902102901758	0.22074	1.197187	0.00516952995343374	0.10849	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.08	0.26079	0.807000	0.26800	1.281000	0.25351	-0.151000	0.12117	0.991000	0.37257	1.000000	0.68203	0.706000	0.34326	0.4928:0.0:0.5072:0.0	6.687	0.22340	147	0.94143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1305.98	34	chr11	108331989	.	A	C	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.792;DP=806;ExcessHet=0.0000;FS=4.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=7.000e-03;SOR=1.107	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1320,0,1364	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,131:131:99:.:.:5591,5591,5591,402,402,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,131:131:99:.:.:5591,5591,5591,402,402,0	1	0	0	0
chr11	119278646	119278648	ATG	-	exonic	CBL	.	nonframeshift deletion	CBL:NM_005188:exon9:c.1364_1366del:p.D460del,	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	567080	RASopathy|CBL-related_disorder	MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0012	0.0005	0.0009	0.0003	0.0007	0.0011	0.0002	0.0005498	85	154602	rs756238702	5.577e-05	0.0032	7.539e-05	3.597e-05	6.432e-05	4.573e-05	4.182e-05	5.199e-05	4.773e-05	3.008e-05	2.241e-05	3.846e-05	0	1.879e-05	0	6.432e-05	4.997e-05	3.487e-05	0	6.567e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	224.94	35	chr11	119278645	.	TATG	T	224.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.439;DP=833;ExcessHet=0.0000;FS=1.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.96;ReadPosRankSum=1.13;SOR=0.742	GT:AD:DP:GQ:PL	0/1:102,13:115:99:239,0,4161	20	0	1	0
chr11	121589294	121589294	T	G	exonic	SORL1	.	nonsynonymous SNV	SORL1:NM_003105:exon29:c.T3982G:p.F1328V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	2732976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.4	B	0.174	B	0.000	D	1.000	D	0	N	-3.67	D	0.073	D	0.592	D	0.408	2.953	15.85	5.62	2.129	1.839	10.217	0.387	0.0810184033986	.	0.000199681	7.413e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs548397390	2.6e-05	2.599e-05	1.226e-05	3.989e-05	0.0004	1.933e-05	1.693e-05	0.0003	0.0003	0	0	0	0	0	0	0	1.657e-05	0.0004	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.118	0.41364	T	0.042	0.50226	D	0.4	0.34852	B	0.174	0.35540	B	0.000002	0.62929	D	0.060345	0.959578	0.40024	D	0.365	0.12025	N	-3.67	0.95247	D	-2.73	0.58569	D	0.47	0.52208	0.073	0.83685	D	0.592	0.85412	D	10	0.12043622	0.22813	T	0.081018	0.73590	D	0.387	0.70358	0.478	0.55663	0.830931794557	0.82933	0.6467726630533859	0.64612	0.376818543332	0.39122	0.498202800751	0.38578	T	0.391079	0.75109	T	-0.0815589	0.39462	T	-0.0387742	0.67784	D	0.149803399215827	0.17088	T	0.837416	0.50983	T	0.26605707	0.49676	0.23284309	0.48457	0.26605707	0.49676	0.23284309	0.48456	-10.845	0.78801	D	.	.	0.113	0.40794	B	.;.;.;.	.;.;.;.	2.887656	0.38231	20.7	0.98573260778832772	0.43141	0.91138	0.52935	D	AEFGBHCI	0.391466	0.46990	N	-0.097867166347057	0.37485	2.181523	0.0898116327917083	0.44035	2.693094	0.999999956788911	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	1.832000	0.38791	0.660000	0.20495	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0737:0.0:0.9263	10.217	0.42354	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	35	chr11	121589294	.	T	G	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.550e-01;DP=784;ExcessHet=0.0000;FS=3.892;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=1.04;SOR=0.931	GT:AD:DP:GQ:PL	0/1:46,44:90:99:937,0,1009	20	0	1	0
chr11	123994528	123994528	C	T	exonic	OR10G6	.	nonsynonymous SNV	OR10G6:NM_001355219:exon1:c.G634A:p.D212N,	.	.	795	712	14	1	0	16	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0131	0.0026	0	0	0.0161	0.0169	0	0.0088	0.0027102	419	154602	rs17128087	0.0125	0.0059	0.0126	0.0125	0.0156	0.0121	0.0120	0.0151	0.0148	0.0015	0.0085	0.0084	0	0.0116	0.0077	0.0156	0.0116	0.0096	0.0100	0.0100	0.0105	0.0094	0.0154	0.0096	0.0094	0.0146	0.0143	0.0028	0	0.0086	0.0087	0.0002	0.0108	0.0170	0.0154	0.0123	0.0097	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.16725	.	.	.	.	.	.	.	0.0054508448	0.00120	T	.	.	.	.	.	.	.	.	.	0.12436243897469361	0.12362	.	.	.	.	.	0.019733	0.15664	T	-0.438119	0.01327	T	-0.388478	0.34729	T	.	.	.	0.953705	0.82322	D	0.066010684	0.14162	0.1682235	0.38766	0.066010684	0.14161	0.1682235	0.38765	-5.832	0.44852	T	.	.	0.145	0.31882	B	.	.	2.654133	0.34565	19.66	0.74879977236506545	0.10862	0.02657	0.07269	N	AEFBI	0.036726	0.04940	N	.	.	.	.	.	.	1.40757368021625E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.062806	0.01542	0	.	.	4.58	3.66	0.41111	-0.329000	0.07978	0.369000	0.17657	0.551000	0.28136	0.000000	0.06391	0.004000	0.18990	0.457000	0.28051	0.0:0.7748:0.1435:0.0817	9.499	0.38171	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4507.66	34	chr11	123994528	.	C	T	4507.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.65;DP=1618;ExcessHet=0.0000;FS=9.525;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.10;ReadPosRankSum=-1.890e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/1:52,32:84:99:732,0,1204	19	1	1	0
chr11	128911903	128911903	G	A	exonic	KCNJ5	.	nonsynonymous SNV	KCNJ5:NM_000890:exon2:c.G630A:p.M210I	Hyperaldosteronism, familial, type III, Autosomal dominant;Long QT syndrome 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	398090	Long_QT_syndrome|Cardiovascular_phenotype|KCNJ5-related_disorder|not_provided	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	0.001	N	0.829	D	1.365	L	-3.27	D	0.107	D	0.655	D	0.216	2.480	14.25	3.55	0.635	3.558	8.968	0.257	0.0439209214881	7.7e-05	.	0.0002	9.63e-05	0.0003	0	0	0.0002	0	0	0.0001552	24	154602	rs138295501	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	3.007e-05	0.0004	0	2.529e-05	7.505e-05	0.0002	0.0003	0.0001	0	0.0002	0.0002	0.0002	9.415e-05	0.0003	0.0001	8.72e-05	0.0002	0.0001	0	0	0.0001	0	0	0.0002	0	0.0003	0.0005	0	0.049	0.39820	D	0.328	0.18675	T	0.0	0.02946	B	0.001	0.04355	B	0.001073	0.40389	N	0.335648	0.829307	0.34893	D	1.87	0.49600	L	-3.27	0.93640	D	-1.33	0.33197	N	0.143	0.15749	0.107	0.84299	D	0.655	0.87996	D	10	0.30572316	0.48087	T	0.043921	0.61232	D	0.257	0.56827	0.335	0.32329	0.893781738591	0.89273	0.6676337146101283	0.66701	0.454560597318	0.45146	0.473201572895	0.35120	T	0.752302	0.93222	D	-0.209399	0.19463	T	-0.222407	0.52505	T	0.084808121546178	0.10591	T	0.827217	0.49094	T	0.26455805	0.49523	0.26899308	0.52775	0.24216089	0.47140	0.25116685	0.50721	-4.195	0.26679	T	0.2477488827798661	0.33548	0.198	0.44148	B	.;.;.	.;.;.	2.662045	0.34679	19.69	0.98244750650111856	0.39512	0.93545	0.58509	D	AEFDBI	0.477668	0.52056	N	-0.176409682515904	0.34119	1.943622	-0.0278317245449377	0.38462	2.266445	0.923051323216169	0.26730	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.46	3.55	0.39770	3.654000	0.54193	6.629000	0.56146	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0691:0.0:0.664:0.267	8.968	0.35048	417	0.81662	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	868.98	138	chr11	128911903	.	G	A	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=2841;ExcessHet=0.0000;FS=3.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=0.378;SOR=0.897	GT:AD:DP:GQ:PL	0/1:30,37:67:99:883,0,685	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/1:2,24,0:26:29:689,29,0,695,72,739	3	7	5	0
chr12	558560	558560	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon18:c.G2660C:p.G887A,	.	.	414	1085	23	0	0	23	0.0104879	.	.	3185142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.091	B	0.119	B	0.048	N	0.998	N	1.725	L	1.21	T	-1.025	T	0.054	T	0.554	0.531	6.874	4.85	2.385	2.734	14.012	0.116	0.00940082659047	0.0048	0.00319489	0.0041	0.0008	0.0033	0	0.0005	0.0054	0.0022	0.0052	0.0010737	166	154602	rs61730392	0.0049	0.0049	0.0048	0.0051	0.0180	0.0048	0.0048	0.0152	0.0142	0.0006	0.0026	0.0090	0	0.0005	0.0180	0.0053	0.0051	0.0060	0.0039	0.0039	0.0040	0.0038	0.0064	0.0036	0.0035	0.0056	0.0055	0.0009	0	0.0039	0.0078	0.0004	0.0003	0.0340	0.0061	0.0038	0.0064	0.173	0.22573	T	0.051	0.47828	T	0.091	0.25247	B	0.119	0.32162	B	0.047531	0.23336	N	0.450561	0.997748	0.22526	N	2.085	0.57729	M	1.21	0.37230	T	-3.07	0.63207	D	0.339	0.38027	-1.0250	0.22083	T	0.054	0.22959	T	10	0.007891625	0.00179	T	0.009401	0.24646	T	0.116	0.32463	.	.	0.382592752248	0.37866	0.5573434413093522	0.55661	0.285283984109	0.30940	0.503007769585	0.39247	T	0.025108	0.18839	T	-0.405663	0.02124	T	-0.345095	0.39767	T	0.0327530080428687	0.02430	T	0.80202	0.44827	T	0.14915045	0.34016	0.19425906	0.43039	0.14915045	0.34016	0.19425906	0.43038	-7.163	0.55215	T	.	.	0.107	0.20235	B	.	.	3.297854	0.45254	22.1	0.91282640441553953	0.20542	0.74996	0.36702	D	AEFGBI	0.154587	0.27964	N	-0.184703900682098	0.33770	1.919788	-0.127708451940447	0.34277	1.969932	0.999954154224236	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.85	4.85	0.62375	2.341000	0.43640	4.424000	0.43326	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.433000	0.27516	0.0:0.1514:0.8486:0.0	14.012	0.64021	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	0.04762	2322.11	33	chr12	558560	.	G	C	2322.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.09;DP=883;ExcessHet=0.1072;FS=6.257;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-1.121e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1499,0,995	19	0	2	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,22:78:60:.:.:60,0,742	3	0	18	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:3,16,112,0,0:131:99:4513,4154,4382,336,0,308,4579,4349,561,4848,4579,4349,561,4848,4848	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:3,16,112,0,0:131:99:4513,4154,4382,336,0,308,4579,4349,561,4848,4579,4349,561,4848,4848	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:3,16,112,0,0:131:99:4513,4154,4382,336,0,308,4579,4349,561,4848,4579,4349,561,4848,4848	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:3,16,112,0,0:131:99:4513,4154,4382,336,0,308,4579,4349,561,4848,4579,4349,561,4848,4848	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:47,0,1,0,16,0,0:116:99:.:.:437,617,2669,559,2477,2460,617,2669,2477,2669,0,1883,1723,1883,1772,617,2669,2477,2669,1883,2669,617,2669,2477,2669,1883,2669,2669	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:47,0,1,0,16,0,0:116:99:.:.:437,617,2669,559,2477,2460,617,2669,2477,2669,0,1883,1723,1883,1772,617,2669,2477,2669,1883,2669,617,2669,2477,2669,1883,2669,2669	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:47,0,1,0,16,0,0:116:99:.:.:437,617,2669,559,2477,2460,617,2669,2477,2669,0,1883,1723,1883,1772,617,2669,2477,2669,1883,2669,617,2669,2477,2669,1883,2669,2669	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:47,0,1,0,16,0,0:116:99:.:.:437,617,2669,559,2477,2460,617,2669,2477,2669,0,1883,1723,1883,1772,617,2669,2477,2669,1883,2669,617,2669,2477,2669,1883,2669,2669	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:47,0,1,0,16,0,0:116:99:.:.:437,617,2669,559,2477,2460,617,2669,2477,2669,0,1883,1723,1883,1772,617,2669,2477,2669,1883,2669,617,2669,2477,2669,1883,2669,2669	1	0	2	0
chr12	9832369	9832369	G	A	exonic	KLRF1	.	nonsynonymous SNV	KLRF1:NM_001291822:exon2:c.G139A:p.V47M	.	.	446	1012	61	3	0	67	0.0320421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	B	0.033	B	0.722	N	1.000	N	0.55	N	4.79	T	-1.063	T	0.059	T	0.133	-2.679	0	-2.27	-0.970	-0.703	5.229	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2074.68	34	chr12	9832369	.	G	A	2074.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.803;DP=806;ExcessHet=0.3300;FS=0.538;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.572;SOR=0.718	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1120,0,856	18	0	3	0
chr12	9913600	9913600	T	C	exonic	CLEC2A	.	nonsynonymous SNV	CLEC2A:NM_001130711:exon5:c.A491G:p.K164R,	.	.	437	1072	11	2	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.402	B	0.109	B	.	.	1.000	N	0.78	N	2.35	T	-0.990	T	0.016	T	0.133	0.587	7.170	1.25	0.332	0.496	4.496	0.021	.	0.0066	0.00239617	0.0091	0.0020	0.0028	0	0	0.0127	0.0054	0.0080	0.0025938	401	154602	rs117696017	0.0102	0.0098	0.0104	0.0100	0.0114	0.0101	0.0100	0.0112	0.0111	0.0013	0.0026	0.0218	2.801e-05	0.0048	0.0035	0.0114	0.0096	0.0067	0.0067	0.0067	0.0071	0.0063	0.0108	0.0064	0.0062	0.0101	0.0099	0.0016	0	0.0042	0.0208	0	0.0032	0.0068	0.0108	0.0095	0.0060	0.267	0.16198	T	0.368	0.16570	T	0.402	0.34891	B	0.109	0.31370	B	.	.	.	.	1	0.81001	D	0.83	0.20963	L	2.35	0.16217	T	-1.53	0.37178	N	0.099	0.08088	-0.9903	0.32525	T	0.016	0.06711	T	9	0.0060467124	0.00136	T	.	.	.	0.021	0.04004	.	.	0.0297737177859	0.01360	0.09731355210531162	0.09662	.	.	0.382892340422	0.22667	T	0.00837	0.07688	T	-0.638096	0.00085	T	-0.678969	0.07047	T	0.00301807329912236	0.00032	T	0.435856	0.11948	T	0.16606027	0.36917	0.106602326	0.25648	0.16606027	0.36917	0.106602326	0.25647	-4.001	0.23819	T	.	.	0.118	0.24123	B	.	.	1.693210	0.21574	15.26	0.98001735796983991	0.37483	0.04837	0.10567	N	AEFBI	0.044682	0.07219	N	-0.697510789656441	0.16092	0.8168537	-0.711678765115019	0.16670	0.8829586	1.70989053125919E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.51	1.25	0.20475	0.122000	0.15515	-0.037000	0.12718	0.609000	0.47794	0.018000	0.19461	0.000000	0.08366	0.043000	0.14563	0.2917:0.0:0.0:0.7083	4.496	0.11248	874	0.30607	C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	KLRF2|CLEC2A|KLRF2|CLEC2A|DDX12P|CLECL1	Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Whole_Blood	CLEC2D|CLEC2A|CLEC2A	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs117696017	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1034.98	34	chr12	9913600	.	T	C	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.87;SOR=0.693	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1049,0,980	20	0	1	0
chr12	11353347	11353347	T	0	exonic	PRB1	.	.	.	.	.	9	207	2	0	8	10	0.00480769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3832.93	201	chr12	11353347	.	T	C,*	3832.93	.	AC=2,3;AF=0.067,0.100;AN=30;BaseQRankSum=1.82;DP=4251;ExcessHet=0.0840;FS=5.948;InbreedingCoeff=0.3842;MLEAC=3,4;MLEAF=0.100,0.133;MQ=54.28;MQRankSum=2.23;QD=4.99;ReadPosRankSum=2.17;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,80:209:99:0|1:11353310_CGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATTGGGAACTTCGGGACTTGTCTCCTTGTGG_C:507,894,5636,0,4742,4583:11353310	11	0	2	6
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,80:209:99:0|1:11353310_CGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATTGGGAACTTCGGGACTTGTCTCCTTGTGG_C:507,894,5636,0,4742,4583:11353310	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,80:209:99:0|1:11353310_CGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATTGGGAACTTCGGGACTTGTCTCCTTGTGG_C:507,894,5636,0,4742,4583:11353310	0	8	4	7
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE,	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,80:209:99:0|1:11353310_CGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATTGGGAACTTCGGGACTTGTCTCCTTGTGG_C:507,894,5636,0,4742,4583:11353310	8	3	1	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,80:209:99:0|1:11353310_CGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATTGGGAACTTCGGGACTTGTCTCCTTGTGG_C:507,894,5636,0,4742,4583:11353310	8	3	1	7
chr12	11393566	11393566	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.G512A:p.R171Q	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.032	B	0.001	B	0.485	N	1.000	N	-1.385	N	3.69	T	-0.916	T	0.002	T	0.032	0.126	4.680	-0.371	-0.261	-1.783	4.731	0.015	.	0.0103	.	0.0072	0.0023	0.0052	0.0002	0.0015	0.0111	0.0056	0.0019	0.0053788	140	26028	rs192416830	0.0030	0.0031	0.0028	0.0031	0.0034	0.0029	0.0029	0.0033	0.0032	0.0008	0.0020	0.0036	0.0003	0.0016	0.0009	0.0034	0.0041	0.0010	0.0026	0.0029	0.0027	0.0025	0.0045	0.0024	0.0023	0.0040	0.0038	0.0007	0	0.0021	0.0023	0	0.0009	0	0.0045	0.0006	0	.	.	.	0.509	0.10857	T	.	.	.	.	.	.	0.484767	0.12125	N	0.536286	0.999876	0.19925	N	.	.	.	3.69	0.04114	T	0.26	0.04380	N	0.083	0.05929	-0.9161	0.46076	T	0.002	0.00615	T	10	0.0057946444	0.00129	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.04404440905227383	0.04348	0.075177927071	0.08431	.	.	.	.	.	.	-0.81108	0.00006	T	-0.922242	0.00367	T	0.00081045146348787	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07318	B	.	.	-0.189255	0.03145	0.508	0.60636780483411012	0.06511	0.00038	0.00324	N	AEFBI	0.013902	0.00201	N	-1.57540296048971	0.01392	0.06067434	-1.58340619829168	0.01757	0.07990812	2.16792815031699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.3	-0.371	0.11902	-1.075000	0.03534	-3.948000	0.02434	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2173:0.0:0.7827	4.731	0.12344	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	691.98	39	chr12	11393566	.	C	T	691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=4061;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.69;MQRankSum=-9.793e+00;QD=2.08;ReadPosRankSum=-4.100e-02;SOR=0.691	GT:AD:DP:GQ:PL	0/1:271,61:332:99:706,0,6065	20	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	.	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.4	M	1.14	T	-0.338	T	0.280	T	0.724	3.966	20.3	3.05	1.535	6.995	11.616	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1	441.68	95	chr12	31091731	.	C	T	441.68	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.645e+00;DP=2064;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1259;MLEAC=4;MLEAF=0.100;MQ=48.01;MQRankSum=-5.652e+00;QD=0.79;ReadPosRankSum=-2.792e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:106,20:126:99:137,0,2600	16	0	4	1
chr12	31981001	31981001	T	C	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.T46C:p.Y16H,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.98	D	0.946	N	1.000	N	0.975	L	3.07	T	-1.032	T	0.057	T	0.557	3.035	16.13	4.26	0.887	1.309	4.802	0.152	0.00745944780428	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757422762	4.106e-06	4.104e-06	1.362e-06	6.878e-06	0.0002	1.48e-06	9.7e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	4.969e-05	0	6.569e-06	6.566e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.945961	0.08321	N	0.968830	1	0.08975	N	1.79	0.46772	L	3.07	0.11839	T	-5.0	0.82341	D	0.528	0.55713	-1.0325	0.19650	T	0.057	0.23791	T	10	0.186252	0.34081	T	0.007459	0.19792	T	0.152	0.39956	0.333	0.32005	0.198526703765	0.19489	0.50357226142392	0.50279	0.0533634687779	0.05882	0.440320253372	0.30620	T	0.04875	0.28108	T	-0.0972748	0.36874	T	-0.377505	0.36013	T	0.891945064067841	0.54297	D	0.768923	0.42759	T	0.26343736	0.49408	0.21754229	0.46424	0.26343736	0.49408	0.21754229	0.46423	-4.093	0.25187	T	.	.	0.198	0.58399	B	.;.;.	.;.;.	3.182908	0.43212	21.7	0.99507975409651694	0.68440	0.21157	0.21301	N	AEFBI	0.073345	0.14667	N	-0.137942919163689	0.35748	2.057384	-0.282826778927027	0.28663	1.599924	0.963025805950087	0.28662	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.26	0.49832	1.426000	0.34478	2.332000	0.32201	0.665000	0.62972	0.788000	0.29570	0.951000	0.29025	0.797000	0.37605	0.2077:0.0872:0.0:0.7051	4.802	0.12668	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1166.98	33	chr12	31981001	.	T	C	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=910;ExcessHet=0.0000;FS=3.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-4.510e-01;SOR=1.084	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1181,0,1086	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,31,8:120:8:.:.:8,0,1229,155,1231,1443	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,31,8:120:8:.:.:8,0,1229,155,1231,1443	2	0	14	4
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,162,0:162:99:4440,486,0,4440,486,4440	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	1/1:0,156,0:156:99:4361,467,0,4361,467,4361	4	9	7	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	8717.76	817	chr12	40486405	.	G	A,GCTAGGGTGACAGAGAGTACTGGACTA	8717.76	.	AC=4,1;AF=0.222,0.056;AN=18;BaseQRankSum=4.98;DP=21353;ExcessHet=1.1607;FS=43.706;InbreedingCoeff=-0.3381;MLEAC=6,2;MLEAF=0.333,0.111;MQ=57.88;MQRankSum=-2.929e+01;QD=2.24;ReadPosRankSum=-4.094e+00;SOR=4.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,7,0:66:2:.:.:2,0,1503,179,1523,1702	4	0	4	12
chr12	40486506	40486506	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:58,0,11,0:69:99:0|1:40486506_A_T:287,462,2887,0,2425,2392,462,2887,2425,2887:40486506	3	0	1	10
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:58,0,11,0:69:99:0|1:40486506_A_T:287,462,2887,0,2425,2392,462,2887,2425,2887:40486506	3	0	1	10
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17618.27	872	chr12	40486507	.	G	C,*	17618.27	.	AC=5,3;AF=0.227,0.136;AN=22;BaseQRankSum=2.35;DP=22462;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=7,4;MLEAF=0.318,0.182;MQ=57.78;MQRankSum=1.47;QD=2.22;ReadPosRankSum=-2.460e+00;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,11,0:69:99:0|1:40486506_A_T:287,0,2392,462,2425,2887:40486506	3	0	5	10
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	22747.23	860	chr12	40486514	.	G	A,*	22747.23	.	AC=7,2;AF=0.350,0.100;AN=20;BaseQRankSum=1.88;DP=22874;ExcessHet=4.7172;FS=5.882;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.550,0.150;MQ=58.09;MQRankSum=0.489;QD=2.52;ReadPosRankSum=-6.295e+00;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,8,0:68:99:0|1:40486506_A_T:155,0,2444,336,2469,2804:40486506	1	0	7	11
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	6754.42	821	chr12	40488214	.	G	T,*	6754.42	.	AC=4,2;AF=0.125,0.063;AN=32;BaseQRankSum=4.72;DP=14240;ExcessHet=1.8958;FS=4.372;InbreedingCoeff=-0.1785;MLEAC=5,2;MLEAF=0.156,0.063;MQ=58.50;MQRankSum=-1.232e+01;QD=1.41;ReadPosRankSum=-7.774e+00;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,7,0:89:47:0|1:40488162_G_A:47,0,3422,294,3443,3737:40488162	10	0	4	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85,5,0:90:49:.:.:3513,256,0,3358,49,3645,3558,259,3527,3691	3	6	5	3
chr12	40490286	40490286	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	595	902	19	0	6	25	0.0104224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186244381	1.359e-06	0.0003	2.527e-06	0	6.872e-05	0	0	.	.	6.872e-05	0	0	0	0	0	0	0	0	0.0003	0.0084	0.0002	0.0003	0.0018	0.0002	0.0002	0.0011	0.0009	0.0001	0.0016	0.0018	0	0.0009	0.0001	0	4.372e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	666.72	777	chr12	40490286	.	C	T	666.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-5.846e+00;DP=17211;ExcessHet=0.3300;FS=3.772;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=52.62;MQRankSum=-1.049e+01;QD=0.38;ReadPosRankSum=-1.430e-01;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,17:110:99:0|1:40490286_C_T:434,0,3824:40490286	17	0	3	1
chr12	40490287	40490287	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	589	899	19	0	15	34	0.0104568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314271449	1.355e-06	0.0003	2.518e-06	0	6.852e-05	0	0	.	.	6.852e-05	0	0	0	0	0	0	0	0	0.0002	0.0076	0.0002	0.0003	0.0014	0.0002	0.0001	0.0009	0.0007	9.404e-05	0.0015	0.0014	0	0.0006	0.0001	0	5.854e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	669.72	777	chr12	40490287	.	A	G	669.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-4.922e+00;DP=17206;ExcessHet=0.3300;FS=1.632;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=52.61;MQRankSum=-6.204e+00;QD=0.38;ReadPosRankSum=-2.000e-01;SOR=0.870	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,17:110:99:0|1:40490286_C_T:434,0,3824:40490286	17	0	3	1
chr12	40490314	40490314	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	563	950	6	0	3	9	0.00314795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288006956	1.368e-06	8.01e-05	2.541e-06	0	1.497e-06	0	0	.	.	0	0	0	0	0	0	1.497e-06	0	0	0.0002	0.0076	0.0003	0.0001	0.0007	0.0001	0.0001	0.0004	0.0003	0.0002	0.0012	0.0007	0	0	0.0004	0	7.813e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	283.02	519	chr12	40490314	.	A	G	283.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.146e+00;DP=15022;ExcessHet=0.0000;FS=4.946;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=52.06;MQRankSum=-5.159e+00;QD=2.38;ReadPosRankSum=-2.327e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/1:83,36:119:99:295,0,3281	15	0	1	5
chr12	40490343	40490343	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	0	221	1	0	4	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1313257363	1.227e-06	0.0009	0	2.657e-06	.	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0.0010	0.0030	0.0011	0.0009	0.0016	0.0009	0.0008	0.0014	0.0013	0.0002	0.0024	0.0010	0	0	0.0011	0	0.0016	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	120.98	519	chr12	40490343	.	G	A	120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=13214;ExcessHet=0.0000;FS=9.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.93;MQRankSum=-7.225e+00;QD=1.01;ReadPosRankSum=0.532;SOR=1.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,11:120:99:0|1:40490286_C_T:135,0,4470:40490286	20	0	1	0
chr12	40490355	40490355	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487050672	0	4.307e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.122e-05	0.0007	4.037e-05	4.211e-05	0.0002	1.78e-05	1.172e-05	5.633e-05	3.031e-05	2.469e-05	0	0.0002	0	0	0	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	127.98	519	chr12	40490355	.	C	T	127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=13210;ExcessHet=0.0000;FS=9.028;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.70;MQRankSum=-7.960e+00;QD=1.09;ReadPosRankSum=-1.457e+00;SOR=1.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,11:117:99:0|1:40490286_C_T:142,0,4384:40490286	20	0	1	0
chr12	40565511	40565511	G	C	splicing	MUC19	NM_173600:exon168:c.23992-2G>C	.	.	.	.	448	1068	6	0	0	6	0.00280112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.879	15.59	5.42	1.003	2.617	8.527	.	.	.	.	6.048e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs754425938	3.994e-05	3.147e-05	3.066e-05	4.958e-05	0.0011	3.061e-05	2.738e-05	0.0004	0.0003	0	0	0	0	0	0.0011	3.367e-05	0.0002	1.312e-05	5.255e-05	5.251e-05	2.571e-05	8.061e-05	7.351e-05	2.557e-05	1.83e-05	2.847e-05	1.858e-05	2.407e-05	0	0	0	0	0	0.0034	7.351e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1227.98	34	chr12	40565511	.	G	C	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.896;DP=835;ExcessHet=0.0000;FS=4.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-1.165e+00;SOR=1.037	GT:AD:DP:GQ:PL	0/1:75,60:135:99:1242,0,1572	20	0	1	0
chr12	45292920	45292920	T	A	exonic	ANO6	.	startloss	ANO6:NM_001142678:exon1:c.T2A:p.M1?,	Scott syndrome, Autosomal recessive	.	0	1510	11	1	0	13	0.00428619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.006	B	0.009	B	.	.	1.000	N	.	.	-0.27	T	-0.890	T	0.174	T	0.169	2.617	14.71	2.33	1.338	0.481	6.604	0.051	0.150544180496	0.0015	0.00179712	0.0020	0	0	0	0	0.0018	0.0053	0.0029	0.0005951	92	154602	rs12822001	0.0019	0.0018	0.0019	0.0019	0.0032	0.0018	0.0018	0.0021	0.0020	0.0003	0.0009	0.0005	2.799e-05	0.0008	0.0032	0.0021	0.0016	0.0023	0.0011	0.0011	0.0011	0.0011	0.0025	0.0009	0.0009	0.0015	0.0014	0.0003	0	0.0003	0.0003	0.0002	0.0004	0.0136	0.0018	0.0028	0.0025	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.27	0.67367	T	0.43	0.03297	N	0.286	0.32370	-0.8901	0.48925	T	0.174	0.51785	T	8	0.006794691	0.00154	T	0.150544	0.83221	D	0.051	0.14325	.	.	0.227260227426	0.22338	.	.	.	.	.	.	.	.	.	.	-0.386899	0.02816	T	-0.334078	0.41014	T	0.102484657793171	0.12628	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-6.039	0.46604	T	.	.	.	.	.	.	.	1.369736	0.17795	13.37	0.9294030930789221	0.22508	0.03581	0.08799	N	ALL	0.009413	0.00054	N	-0.683514204085586	0.16492	0.840696	-0.728882169161523	0.16243	0.8583549	0.999996774318743	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.55458	0.18720	0	0.677812	0.66336	0	.	.	2.33	2.33	0.27981	0.469000	0.21779	-0.235000	0.10642	0.665000	0.62972	0.006000	0.17386	0.000000	0.08366	0.967000	0.53440	0.0:0.0:0.0:1.0	6.604	0.21909	740	0.53092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	36	chr12	45292920	.	T	A	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e-01;DP=788;ExcessHet=0.0000;FS=1.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.089;SOR=0.661	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1264,0,1081	20	0	1	0
chr12	45439818	45439818	C	G	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001142679:exon20:c.C2670G:p.D890E,	Scott syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.55	T	-1.047	T	0.119	T	0.035	0.562	7.039	-2.23	-0.648	-1.249	3.396	0.038	0.00974770263844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0039	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	4.069e-05	5.662e-05	0	0	0.0003	0.0002	9.079e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.55	0.71068	T	0.72	0.02099	N	0.103	0.08646	-1.0467	0.15332	T	0.119	0.41735	T	9	0.040973663	0.02713	T	0.009748	0.25449	T	0.038	0.09825	0.297	0.26202	0.221734844693	0.21761	.	.	.	.	.	.	.	.	.	.	-0.252914	0.13744	T	-0.60107	0.12721	T	0.0346802229247811	0.02754	T	0.192181	0.02062	T	.	.	.	.	.	.	.	.	-3.694	0.19230	T	.	.	0.159	0.35247	B	.	.	0.313626	0.06887	3.422	0.42230997187820268	0.03099	0.00592	0.02653	N	AEFBI	0.026279	0.01945	N	-1.72133448649868	0.00769	0.03320854	-1.77678337462465	0.00836	0.03736014	0.867500058919336	0.25347	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.22	-2.23	0.06539	-0.913000	0.04150	-2.612000	0.03549	-0.585000	0.04679	0.000000	0.06391	0.000000	0.08366	0.513000	0.29313	0.0:0.3519:0.2105:0.4377	3.396	0.06880	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	480.11	138	chr12	45439818	.	C	G	480.11	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.045e+00;DP=1884;ExcessHet=0.3300;FS=215.676;InbreedingCoeff=-0.0848;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=3.46;SOR=10.597	GT:AD:DP:GQ:PL	0/1:67,19:95:99:173,0,1037	18	0	3	0
chr12	52473676	52473676	T	C	exonic	KRT6C	.	nonsynonymous SNV	KRT6C:NM_173086:exon1:c.A62G:p.N21S,	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.663	N	1.000	N	-0.735	N	-0.89	T	-0.995	T	0.126	T	0.071	-1.274	0.044	2.04	0.780	-0.443	7.055	0.145	0.0237197188592	.	.	0.0004	0.0020	0.0004	0.0002	0	0.0002	0	0.0002	3.84e-05	1	26028	rs757116227	0.0023	0.0086	0.0023	0.0023	0.0218	0.0023	0.0022	0.0204	0.0199	0.0218	0.0141	0.0002	0.0037	7.506e-05	0.0031	0.0011	0.0027	0.0066	0.0029	0.0094	0.0027	0.0032	0.0087	0.0027	0.0026	0.0079	0.0076	0.0087	0	0.0033	0	0.0022	9.535e-05	0	0.0004	0.0010	0.0036	1.0	0.00964	T	0.54	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	0.663456	0.10407	N	0.860801	1	0.08975	N	-0.64	0.02118	N	-0.89	0.74793	T	1.21	0.01064	N	0.075	0.04913	-0.9952	0.31245	T	0.126	0.43070	T	10	0.016490638	0.00348	T	0.02372	0.46692	T	0.145	0.38592	.	.	0.370240404367	0.36630	0.03666397461304288	0.03613	1.29320391004	0.82848	0.433197557926	0.29646	T	0.004361	0.03768	T	-0.249183	0.14198	T	-0.595711	0.13174	T	0.00825019784137431	0.00099	T	0.0964904	0.00716	T	0.03286239	0.03392	0.03956325	0.04079	0.03286239	0.03391	0.03956325	0.04078	2.324	0.00038	T	.	.	0.043	0.00028	B	.	.	0.054250	0.04668	1.318	0.61138517215947952	0.06635	0.01666	0.05334	N	AEFBI	0.024479	0.01522	N	-1.23179637125951	0.04545	0.2053596	-1.1414974819975	0.06922	0.3348353	8.84291523541453E-4	0.07960	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.93	2.04	0.25787	-0.605000	0.05757	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.233000	0.22815	0.0:0.6453:0.2451:0.1096	7.055	0.24274	682	0.59757	Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	463.75	43	chr12	52473676	.	T	C	463.75	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.778;DP=1014;ExcessHet=0.3300;FS=41.120;InbreedingCoeff=-0.0732;MLEAC=2;MLEAF=0.048;MQ=49.95;MQRankSum=-3.997e+00;QD=1.47;ReadPosRankSum=-1.084e+00;SOR=2.019	GT:AD:DP:GQ:PL	0/1:101,28:129:99:423,0,2524	18	0	3	0
chr12	52548250	52548250	T	C	exonic	KRT71	.	nonsynonymous SNV	KRT71:NM_033448:exon5:c.A880G:p.N294D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.006	B	0.162	N	1.000	N	0.02	N	-0.89	T	-1.002	T	0.115	T	0.011	-0.117	3.425	0.24	0.018	-0.115	1.622	0.081	0.00512002215865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.05106	T	0.801	0.04054	T	0.0	0.02946	B	0.006	0.12133	B	0.161566	0.17647	N	0.468625	1	0.08975	N	-0.67	0.02046	N	-0.89	0.74793	T	-0.41	0.14000	N	0.207	0.22998	-1.0019	0.29372	T	0.115	0.40763	T	10	0.09029421	0.15716	T	0.00512	0.13001	T	0.081	0.23632	0.439	0.49321	0.420570264827	0.41677	0.07892131652301321	0.07827	0.103124469384	0.11663	0.276208102703	0.06969	T	0.17122	0.51926	T	-0.265103	0.12308	T	-0.618579	0.11297	T	0.052764967083931	0.05979	T	0.156584	0.01380	T	0.099944495	0.23592	0.043668333	0.05483	0.099944495	0.23592	0.043668333	0.05483	-5.93	0.45690	T	0.07733515736959765	0.03613	0.072	0.04316	B	.	.	1.628222	0.20790	14.91	0.77099051680011654	0.11736	0.04335	0.09896	N	AEFDBI	0.080321	0.16236	N	-1.11272090459569	0.06415	0.2952631	-1.04230595215641	0.08868	0.4381646	0.77498683379545	0.23737	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.3	0.24	0.14750	0.729000	0.25696	.	.	0.644000	0.52426	0.272000	0.25065	0.018000	0.20648	0.780000	0.36908	0.1662:0.4516:0.1675:0.2148	1.622	0.02552	856	0.34373	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	848.98	47	chr12	52548250	.	T	C	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.511e+00;DP=1172;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=0.039;SOR=0.746	GT:AD:DP:GQ:PL	0/1:55,44:99:99:863,0,1249	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,13,0:98:99:0|1:52949249_G_A:290,0,3530,546,3569,4115:52949249	0	0	20	0
chr12	53158552	53158552	A	T	exonic	CSAD	.	nonsynonymous SNV	CSAD:NM_001244706:exon8:c.T742A:p.F248I	.	.	427	1094	1	0	0	1	0.00045683	.	.	2673111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.988	D	0.000	D	1.000	D	2.67	M	1.2	T	-0.200	T	0.397	T	0.703	3.994	20.5	4.49	2.027	8.593	13.215	0.365	0.161049203376	0.0002	0.000199681	0.0003	0	8.652e-05	0	0	0.0002	0.0033	0.0008	0.0002717	42	154602	rs201988379	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0003	0.0007	0.0007	3.006e-05	8.951e-05	3.828e-05	0	0	0.0012	0.0003	0.0006	0.0009	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	7.292e-05	0	6.554e-05	0	0	0	0	0.0004	0.0005	0.0008	0.001	0.78490	D	0.013	0.63109	D	0.999	0.77913	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.345	0.91022	M	1.2	0.37405	T	-5.4	0.85103	D	0.698	0.78737	-0.1999	0.77674	T	0.397	0.74909	T	10	0.27375472	0.44925	T	0.161049	0.84092	D	0.365	0.68495	.	.	0.473853734676	0.47014	0.7748335612118213	0.77433	0.733123328434	0.62824	0.608102798462	0.54047	T	0.678335	0.90527	D	-0.146627	0.28840	T	-0.052218	0.66871	D	0.519829070477394	0.33359	D	0.907809	0.73907	D	0.82307833	0.85428	0.6452673	0.79261	0.82307833	0.85429	0.6452673	0.79262	-12.205	0.86458	D	.	.	0.295	0.60437	B	.;.;.;.	.;.;.;.	4.859584	0.79503	27.1	0.98221933429762986	0.39307	0.98287	0.81280	D	AEFDBHCI	0.916247	0.88217	D	0.421247462437126	0.62590	4.477611	0.42199202551575	0.62939	4.517962	0.999999999856316	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	4.49	4.49	0.54177	8.919000	0.92353	9.350000	0.80289	0.727000	0.85467	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	13.215	0.59282	774	0.48577	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	33	chr12	53158552	.	A	T	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=817;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.227;SOR=0.665	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1163,0,1198	20	0	1	0
chr12	53171972	53171972	C	T	exonic	CSAD	.	nonsynonymous SNV	CSAD:NM_001244705:exon7:c.G361A:p.A121T	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.961	D	0.000	D	1.000	D	3.425	M	1.11	T	0.424	D	0.595	D	0.875	5.286	33	4.96	2.484	5.647	17.353	0.469	0.04230201479	.	0.000199681	8.272e-06	0	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs138203066	1.3e-05	1.368e-05	8.17e-06	1.788e-05	5.976e-05	8.32e-06	6.7e-06	9.9e-06	6.42e-06	5.976e-05	0	0	2.519e-05	0	0	1.349e-05	1.656e-05	0	6.576e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.495	0.92709	M	1.11	0.38883	T	-2.51	0.54546	D	0.703	0.73916	0.424	0.89452	D	0.595	0.85534	D	10	0.5738438	0.65468	D	0.042302	0.60393	D	0.469	0.76355	.	.	0.555277862696	0.55187	0.9115866123841866	0.91132	0.54758036057	0.51724	0.661323726177	0.61598	T	0.559584	0.93268	D	0.199764	0.73869	D	0.112817	0.77760	D	0.992093980312347	0.82494	D	0.972103	0.89869	D	0.7688288	0.81978	0.6788753	0.81136	0.7688288	0.81979	0.6788753	0.81137	-9.309	0.70179	D	.	.	0.753	0.79004	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.916642	0.80938	27.4	0.9993610445293295	0.99621	0.94928	0.62818	D	AEFBHCI	0.702493	0.65885	D	0.530974383142651	0.68932	5.285678	0.51950329261461	0.69303	5.341217	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.383324	0.06259	0	0.635551	0.53088	0	.	.	4.96	4.96	0.65153	3.847000	0.55604	5.950000	0.51632	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.862000	0.40904	0.0:1.0:0.0:0.0	17.353	0.87218	689	0.59000	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1077.98	33	chr12	53171972	.	C	T	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.036;DP=782;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.346e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1092,0,850	20	0	1	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/2:50,10,13:77:99:186,128,1412,0,886,1165	11	0	9	0
chr12	56155190	56155190	A	G	exonic	MYL6B	.	nonsynonymous SNV	MYL6B:NM_001199629:exon4:c.A338G:p.K113R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.789	P	0.641	P	0.000	N	1.000	D	1.93	M	-1.31	T	-0.176	T	0.488	T	0.404	2.599	14.65	3.12	0.793	3.374	8.888	0.438	0.0486275299414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.26852	T	0.193	0.28860	T	0.434	0.35666	B	0.1	0.30674	B	0.000032	0.55875	N	0.155077	0.999587	0.47691	D	1.985	0.53793	M	-1.31	0.79666	T	-1.74	0.41239	N	0.273	0.31140	-0.1760	0.78281	T	0.488	0.80501	T	10	0.30700853	0.48207	T	0.048628	0.63456	D	0.438	0.74235	0.394	0.41935	0.81928443034	0.81758	0.4015392931818259	0.40069	0.127017458091	0.14312	0.515929877758	0.41053	T	0.143245	0.47927	T	0.0313461	0.55903	T	-0.19275	0.55332	T	0.790457010269165	0.45720	D	0.807619	0.47426	T	0.17981397	0.39071	0.17145996	0.39329	0.17981397	0.39070	0.17145996	0.39328	-6.936	0.53566	T	.	.	0.078	0.18456	B	.;.;.	.;.;.	3.603974	0.50915	23.0	0.99486892780881975	0.67235	0.93232	0.57670	D	AEFBI	0.734276	0.68046	D	0.103798677832372	0.46639	2.901251	0.121019812777228	0.45625	2.822404	0.999999315977184	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.28	3.12	0.34986	1.655000	0.36960	8.069000	0.76432	0.669000	0.69127	0.726000	0.28882	1.000000	0.68203	0.998000	0.85391	0.9077:0.0:0.0923:0.0	8.888	0.34573	253	0.90069	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	641.98	33	chr12	56155190	.	A	G	641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.660e-01;DP=779;ExcessHet=0.0000;FS=5.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.73;ReadPosRankSum=0.594;SOR=1.263	GT:AD:DP:GQ:PL	0/1:51,32:83:99:656,0,1190	20	0	1	0
chr12	69589489	69589489	G	A	exonic	CCT2	.	nonsynonymous SNV	CCT2:NM_001198842:exon7:c.G310A:p.D104N	.	.	.	.	.	.	.	.	.	.	.	1940243	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.012	B	0.026	B	0.000	D	1.000	D	0.535	N	-1.16	T	-0.762	T	0.265	T	0.115	2.717	15.05	6.07	2.884	5.995	14.751	0.303	0.0270601701004	7.7e-05	.	3.405e-05	0	0	0	0	6.221e-05	0	0	2.59e-05	4	154602	rs368079574	0.0001	0.0001	0.0001	0.0001	0.0002	9.877e-05	9.286e-05	0.0001	0.0001	2.988e-05	0	0	0	0	0.0002	0.0001	3.313e-05	2.32e-05	3.944e-05	3.941e-05	6.426e-05	1.346e-05	0.0001	1.716e-05	1.13e-05	2.262e-05	1.032e-05	7.242e-05	0	0.0001	0	0	0	0	1.471e-05	0	0	0.45	0.10148	T	0.333	0.18675	T	0.0	0.16265	B	0.011	0.20792	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.985	0.24966	L	-1.16	0.78082	T	-2.39	0.52612	N	0.397	0.45331	-0.7617	0.57313	T	0.265	0.63641	T	9	0.20184529	0.36283	T	0.02706	0.49911	D	0.303	0.62400	.	.	0.327946701059	0.32395	0.5527145008689935	0.55197	0.288619852598	0.31269	0.483582735062	0.36550	T	0.489675	0.81480	T	-0.218733	0.18165	T	-0.366067	0.37348	T	0.162692264295064	0.18068	T	0.891311	0.62583	D	0.26125774	0.49184	0.14473751	0.34353	0.26125774	0.49184	0.14473751	0.34352	-6.704	0.52148	T	.	.	0.088	0.12084	B	.;.;.	.;.;.	3.307812	0.45438	22.1	0.99675015693284696	0.78846	0.96630	0.70109	D	AEFBCI	0.824111	0.74407	D	0.0505399087645766	0.44168	2.695763	0.290202819706132	0.54966	3.660275	0.999999490904629	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.163000	0.71702	6.656000	0.56232	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0684:0.0:0.9316:0.0	14.751	0.69147	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1101.98	33	chr12	69589489	.	G	A	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=794;ExcessHet=0.0000;FS=1.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.425;SOR=0.902	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1116,0,867	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:5,5,10,4:30:9:197,46,244,0,10,69,187,90,9,368	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:5,5,10,4:30:9:197,46,244,0,10,69,187,90,9,368	3	0	8	0
chr12	71566906	71566906	A	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon10:c.A992G:p.Q331R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.006	B	0.012	N	0.978	D	0.075	N	5.58	T	-1.075	T	0.026	T	0.455	0.067	4.364	4.52	1.083	3.854	11.824	0.072	.	0.0005	0.00778754	0.0023	0.0012	8.679e-05	0.0307	0	0	0.0011	0.0004	0.0023221	359	154602	rs150655850	0.0007	0.0007	0.0007	0.0007	0.0191	0.0007	0.0006	0.0180	0.0175	0.0005	2.237e-05	0	0.0191	0	0	2.8e-05	0.0025	0.0005	0.0014	0.0014	0.0012	0.0016	0.0324	0.0013	0.0012	0.0284	0.0269	0.0009	0	6.544e-05	0	0.0324	0	0	4.412e-05	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.012065	0.29301	N	0.299629	0.978118	0.39431	D	-0.3	0.03631	N	5.58	0.41750	T	0.49	0.03521	N	0.526	0.55540	-1.0751	0.08328	T	0.026	0.11043	T	10	0.005159676	0.00112	T	.	.	.	0.072	0.21020	.	.	0.625762239502	0.62271	0.4160102817848351	0.41517	0.0659921320514	0.07365	0.519661903381	0.41579	T	0.076458	0.35424	T	-0.476118	0.00780	T	-0.430227	0.29911	T	0.0100332286049004	0.00134	T	0.579642	0.26183	T	0.18594132	0.39979	0.117359824	0.28330	0.18594132	0.39979	0.117359824	0.28329	-1.742	0.04446	T	.	.	0.079	0.09143	B	.;.;.	.;.;.	2.273401	0.29059	18.00	0.47804246023521174	0.03938	0.80701	0.40272	D	AEFDBHCI	0.550862	0.56317	D	-0.444727216300926	0.23919	1.287887	-0.199244393914788	0.31564	1.787526	0.99968561515664	0.41756	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.67	4.52	0.54797	5.261000	0.65314	5.986000	0.52250	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9314:0.0:0.0686:0.0	11.824	0.51532	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	0.02381	638.98	38	chr12	71566906	.	A	G	638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.152e+00;DP=914;ExcessHet=0.0000;FS=2.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=1.18;SOR=0.420	GT:AD:DP:GQ:PL	0/1:60,34:94:99:653,0,1507	20	0	1	0
chr12	80238950	80238950	C	T	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon10:c.C890T:p.P297L	Deafness, autosomal recessive 84B, Autosomal recessive	.	14	1505	3	0	0	3	0.000995685	.	.	230350	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	D	2.475	M	2.23	T	-0.938	T	0.129	T	0.518	4.294	22.5	5.24	2.617	6.460	19.189	0.233	0.0450128080052	0.0014	0.00139776	0.0019	0.0002	0.0012	0	0.0053	0.0026	0.0014	0.0002	0.0014618	226	154602	rs200050988	0.0014	0.0014	0.0015	0.0014	0.0015	0.0014	0.0013	0.0014	0.0014	0.0001	0.0006	0.0002	0	0.0055	0.0002	0.0015	0.0019	0.0002	0.0011	0.0011	0.0011	0.0012	0.0014	0.0010	0.0010	0.0012	0.0011	7.224e-05	0	0.0008	0	0	0.0058	0	0.0014	0.0005	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.22	0.18248	T	-8.04	0.96594	D	0.735	0.73555	-0.9377	0.42979	T	0.129	0.43767	T	7	0.012156695	0.00262	T	0.045013	0.61774	D	0.233	0.53499	.	.	0.215869574891	0.21205	0.7067513157466023	0.70617	0.185581070917	0.20870	0.585480034351	0.50858	T	.	.	.	-0.38128	0.03059	T	-0.327722	0.41722	T	0.110839074367325	0.13510	T	0.787321	0.42620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.65754	A	.;.;.	.;.;.	4.349357	0.66796	25.0	0.99867896818046775	0.94547	0.98674	0.85428	D	AEFI	0.590971	0.58725	D	0.557030498872722	0.70512	5.512256	0.596324842406309	0.74675	6.17768	0.184417142226932	0.17915	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.645665	0.59343	0	.	.	5.24	5.24	0.72863	6.265000	0.72498	7.655000	0.63911	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.189	0.93643	510	0.75209	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	1	0	0	0	0	1	0	0.02381	1035.98	36	chr12	80238950	.	C	T	1035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.864;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.605e+00;SOR=0.735	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1050,0,889	20	0	1	0
chr12	96743786	96743786	C	T	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon54:c.C7433T:p.T2478I	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.02	B	0.016	B	0.000	D	0.885	N	0.95	L	.	.	-1.038	T	0.083	T	0.306	0.279	5.510	3.45	1.327	1.405	10.394	0.080	0.00342403572207	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311522490	8.211e-06	8.209e-06	6.808e-06	9.628e-06	6.714e-05	4.38e-06	3.46e-06	1.781e-05	8.93e-06	0	6.714e-05	0	0	0	0	4.497e-06	6.625e-05	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0001	5.24e-06	2.45e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.348	0.12386	T	0.138	0.33780	T	.	.	.	.	.	.	0.000055	0.53742	D	0.120612	0.885179	0.27980	N	.	.	.	.	.	.	-2.07	0.47344	N	0.324	0.36464	-1.0385	0.17771	T	0.083	0.32499	T	9	0.10783225	0.20047	T	0.003424	0.07694	T	0.080	0.23350	.	.	0.0482279557977	0.04254	0.45945689023105674	0.45863	0.0374687606016	0.03975	.	.	.	0.048456	0.28023	T	-0.233397	0.16201	T	-0.397188	0.33711	T	0.0924310194330893	0.11503	T	0.558444	0.19458	T	0.09084096	0.21269	0.11673028	0.28180	0.09084096	0.21269	0.11673028	0.28179	-3.646	0.18524	T	.	.	0.145	0.31857	B	.	.	1.724929	0.21960	15.42	0.97041557043122095	0.32113	0.59622	0.30966	D	AEFDGBIJ	0.059415	0.11219	N	-0.446483569771261	0.23860	1.284265	-0.317743975529392	0.27525	1.527986	0.770196814214407	0.23659	0.516213	0.21343	1	0.588015	0.36545	0	0.573888	0.23631	0	0.704051	0.69138	0	.	.	5.52	3.45	0.38602	1.459000	0.34844	2.168000	0.31032	0.599000	0.40250	0.874000	0.30870	0.979000	0.30280	0.088000	0.17685	0.0:0.791:0.0:0.209	10.394	0.43374	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	34	chr12	96743786	.	C	T	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=827;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.725;SOR=0.641	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1316,0,1405	20	0	1	0
chr12	98533078	98533078	G	A	exonic	TMPO	.	nonsynonymous SNV	TMPO:NM_003276:exon4:c.G821A:p.R274K,	.	.	0	1521	1	0	0	1	0.000328623	.	.	53840	not_specified|TMPO-related_disorder|Loeys-Dietz_syndrome_2|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168,Orphanet:558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.97	T	0.002	B	0.004	B	0.152	N	1.000	D	0.345	N	1.68	T	-1.049	T	0.028	T	0.059	-1.890	0.008	2.57	0.766	0.779	8.300	0.024	0.00548624604785	0.0029	0.00179712	0.0023	0.0014	0.0029	0	0.0011	0.0030	0.0022	0.0017	0.002542	393	154602	rs139700737	0.0045	0.0045	0.0046	0.0043	0.0052	0.0044	0.0043	0.0050	0.0050	0.0005	0.0033	0.0050	2.519e-05	0.0015	0.0003	0.0052	0.0047	0.0013	0.0028	0.0028	0.0032	0.0025	0.0039	0.0026	0.0025	0.0035	0.0033	0.0011	0.0473	0.0026	0.0043	0.0002	0.0004	0	0.0039	0.0033	0.0021	0.764	0.03441	T	0.88	0.03223	T	0.002	0.09854	B	0.004	0.10090	B	0.152315	0.17927	N	0.531595	1	0.81001	D	0.345	0.11182	N	1.68	0.27184	T	0.3	0.04091	N	0.063	0.03502	-1.0490	0.14677	T	0.028	0.11838	T	10	0.0032045841	0.00054	T	0.005486	0.14106	T	0.024	0.04979	.	.	0.112648838833	0.10856	0.10324057779625055	0.10254	0.0686091453099	0.07686	0.25190705061	0.03971	T	0.073548	0.34725	T	-0.628031	0.00098	T	-0.672704	0.07436	T	0.000670149374572627	0.00006	T	0.354465	0.08000	T	0.08222497	0.18932	0.07160606	0.15352	0.08222497	0.18931	0.07160606	0.15352	-2.729	0.07549	T	0.12962181454388585	0.13557	0.071	0.04041	B	.	.	1.384487	0.17965	13.47	0.57532277172836876	0.05790	0.53441	0.29372	D	AEFGBHCI	0.070750	0.14057	N	-0.681313829775218	0.16555	0.8444639	-0.52235465254689	0.21546	1.16613	0.999990547342771	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.46	2.57	0.29928	0.793000	0.26604	1.886000	0.29485	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.930000	0.46718	0.2661:0.0:0.7339:0.0	8.300	0.31166	822	0.40702	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1145.98	36	chr12	98533078	.	G	A	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=1201;ExcessHet=0.0000;FS=0.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-8.780e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1160,0,1303	20	0	1	0
chr12	108702805	108702805	G	A	exonic	CORO1C	.	nonsynonymous SNV	CORO1C:NM_001105237:exon1:c.C145T:p.R49C,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.001	B	.	.	0.837	N	.	.	0.0	T	-0.961	T	0.131	T	0.05	0.699	7.729	-0.774	-0.006	-0.255	3.578	0.068	0.0267399795889	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757863204	4.866e-05	4.788e-05	4.015e-05	5.739e-05	0.0002	3.887e-05	3.553e-05	4.229e-05	3.867e-05	6.423e-05	2.909e-05	0	0	0	0.0002	5.392e-05	5.213e-05	2.548e-05	4.601e-05	4.597e-05	1.285e-05	8.073e-05	7.35e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	2.414e-05	0	6.551e-05	0	0	0	0	7.35e-05	0	0	0.018	0.63226	D	0.085	0.41074	T	.	.	.	.	.	.	.	.	.	.	0.999976	0.28686	N	.	.	.	-0.15	0.65192	T	0.35	0.05706	N	0.111	0.09772	-0.9614	0.38916	T	0.131	0.44208	T	8	0.082533896	0.13631	T	0.02674	0.49621	D	0.068	0.19811	0.525	0.62967	0.187035705434	0.18338	0.27722016411051936	0.27635	.	.	0.466047406197	0.34139	T	.	.	.	-0.390161	0.02684	T	-0.601244	0.12707	T	0.0504458099603653	0.05577	T	0.284972	0.08000	T	.	.	.	.	.	.	.	.	-4.082	0.25024	T	.	.	0.187	0.46470	B	.;.	.;.	0.809793	0.11805	8.378	0.9040305555448187	0.19664	0.33709	0.24893	N	AEFDBCIJ	0.068568	0.13532	N	-0.852420998881912	0.11991	0.5818011	-0.874256973609776	0.12706	0.6551371	0.999917799302274	0.45857	0.45559	0.09716	2	0.519925	0.08708	0	0.491513	0.07944	0	0.322989	0.05693	1	.	.	4.79	-0.774	0.10437	-0.204000	0.09426	0.908000	0.22604	-0.113000	0.14837	0.875000	0.30889	0.896000	0.27899	0.786000	0.37147	0.3957:0.0:0.4222:0.182	3.578	0.07493	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	548.98	33	chr12	108702805	.	G	A	548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.85;ReadPosRankSum=-5.780e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:38,24:62:99:563,0,777	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,125:125:99:.:.:5066,4664,4669,376,373,0	2	0	0	0
chr12	117761028	117761028	G	C	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon4:c.C969G:p.D323E,	.	.	433	1051	35	3	0	41	0.0191321	.	.	1590532	not_provided|KSR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.24	T	0.015	B	0.01	B	0.000	N	0.882	D	1.735	L	0.64	T	-1.102	T	0.065	T	0.216	1.664	11.52	-2.89	-1.082	-2.640	6.890	0.110	.	0.0025	0.0103834	0.0082	0.0002	0.0036	0.0001	0.0002	0.0037	0.0068	0.0414	0.0071927	1112	154602	rs141457085	0.0043	0.0043	0.0032	0.0056	0.0402	0.0043	0.0042	0.0391	0.0386	0.0004	0.0030	0.0071	0.0001	0.0002	0.0236	0.0019	0.0057	0.0402	0.0032	0.0032	0.0029	0.0035	0.0342	0.0030	0.0029	0.0299	0.0283	0.0005	0.0044	0.0041	0.0086	0.0004	0.0003	0.0340	0.0027	0.0057	0.0342	0.383	0.11085	T	0.519	0.10714	T	0.015	0.17086	B	0.01	0.14941	B	0.000015	0.62929	N	0.111914	0.881963	0.35769	D	0.815	0.20815	L	0.64	0.52867	T	-1.16	0.29727	N	0.212	0.23632	-1.1020	0.03857	T	0.065	0.26948	T	10	0.0028678179	0.00046	T	.	.	.	0.110	0.31079	0.289	0.24921	0.390598846067	0.38674	0.3763064201691893	0.37544	0.643779572933	0.57903	0.589513301849	0.51426	T	0.296005	0.66865	T	-0.589331	0.00169	T	-0.590034	0.13662	T	0.00410477713333887	0.00044	T	0.70223	0.31206	T	0.05982418	0.12203	0.0596812	0.11241	0.05982418	0.12202	0.0596812	0.11241	-3.052	0.10752	T	.	.	0.073	0.08705	B	.;.	.;.	-0.802662	0.01101	0.050	0.95443789358171249	0.26955	0.19524	0.20694	N	AEFDBI	0.369826	0.45641	N	-0.958532844071779	0.09502	0.450003	-0.952319441677368	0.10869	0.5502401	0.0015609673761638	0.08639	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.23	-2.89	0.05326	-2.914000	0.00763	-6.349000	0.01424	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.4978:0.2198:0.2823:0.0	6.890	0.23403	872	0.31118	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2477.92	34	chr12	117761028	.	G	C	2477.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.20;DP=829;ExcessHet=0.6776;FS=0.499;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.681;SOR=0.645	GT:AD:DP:GQ:PL	0/1:33,35:68:99:809,0,608	17	0	4	0
chr12	118027967	118027967	A	G	exonic	RFC5	.	nonsynonymous SNV	RFC5:NM_001206801:exon9:c.A799G:p.K267E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.902	P	0.793	P	0.000	D	1.000	D	3.23	M	0.91	T	-0.518	T	0.270	T	0.893	4.905	28.3	5.25	2.200	9.003	14.286	0.426	0.0377701280935	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418286502	5.504e-06	6.158e-06	4.111e-06	6.908e-06	5.432e-06	2.37e-06	1.71e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.432e-06	3.327e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.026	0.55759	D	0.763	0.43659	P	0.61	0.51087	P	0.000002	0.62929	D	0.098571	1	0.81001	D	3.53	0.93071	H	0.91	0.44856	T	-2.53	0.54864	D	0.732	0.73375	-0.5177	0.68000	T	0.270	0.64130	T	10	0.80264807	0.79645	D	0.03777	0.57818	D	0.426	0.73372	0.619	0.75347	0.597622584896	0.59442	0.8510696912669029	0.85068	0.776708306032	0.65073	0.727913379669	0.71202	T	0.279593	0.65227	T	0.261056	0.79627	D	0.152698	0.80355	D	0.931297659873962	0.59657	D	0.958204	0.84269	D	0.90402645	0.91745	0.7510635	0.85286	0.90402645	0.91746	0.7510635	0.85287	-13.305	0.91380	D	.	.	0.818	0.78148	P	.;.	.;.	5.147240	0.86196	28.8	0.99866989488545377	0.94457	0.97798	0.77211	D	AEFBCI	0.909885	0.86709	D	0.736230775527691	0.82007	7.657168	0.715491728337761	0.83553	8.052462	0.999996736622781	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	8.977000	0.93019	11.194000	0.88775	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.286	0.65794	942	0.12992	Replication factor C, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	919.98	34	chr12	118027967	.	A	G	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.807e+00;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=0.243;SOR=0.748	GT:AD:DP:GQ:PL	0/1:55,45:100:99:934,0,1336	20	0	1	0
chr12	118068526	118068528	TCC	-	exonic	VSIG10	.	nonframeshift deletion	VSIG10:NM_019086:exon8:c.1416_1418del:p.E474del,	.	.	0	151	56	5	14	80	0.179348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16579.07	36	chr12	118068522	.	TTCCTCC	T,TTCC	16579.07	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-4.740e-01;DP=1421;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=6,3;MLEAF=0.143,0.071;MQ=60.00;MQRankSum=0.00;QD=22.40;ReadPosRankSum=0.739;SOR=0.686	GT:AD:DP:GQ:PL	0/2:25,0,4:29:93:93,168,1207,0,1038,1026	13	1	4	0
chr12	118136331	118136331	T	A	exonic	PEBP1	.	nonsynonymous SNV	PEBP1:NM_002567:exon1:c.T122A:p.L41Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	D	1.000	D	3.965	H	0.66	T	0.204	D	0.442	T	0.782	4.959	28.9	4.75	2.009	5.335	14.415	0.603	0.0837160611628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000692	0.42383	D	0.209933	0.999998	0.58761	D	4.41	0.98683	H	0.66	0.52416	T	-5.44	0.85397	D	0.823	0.81857	0.204	0.85969	D	0.442	0.77958	T	10	0.90303564	0.89666	D	0.083716	0.74175	D	0.603	0.84345	0.736	0.86892	0.866932225768	0.86563	0.7847290960723274	0.78423	1.0828414072	0.77184	0.769858717918	0.77403	T	0.90314	0.98116	D	0.182635	0.72284	D	0.0245664	0.71925	D	0.999649405479431	0.98300	D	0.987501	0.95747	D	0.95646113	0.96921	0.9278886	0.96949	0.95646113	0.96921	0.9278886	0.96949	-11.136	0.80398	D	.	.	0.824	0.78442	P	.	.	5.385746	0.90245	31	0.99016216282334002	0.50484	0.94109	0.60139	D	ALL	0.862481	0.78078	D	0.841820630608287	0.88638	9.653934	0.724520798186129	0.84239	8.237426	0.999999999999998	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.75	4.75	0.59954	5.332000	0.65686	7.675000	0.64997	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	14.415	0.66714	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	927.98	33	chr12	118136331	.	T	A	927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=770;ExcessHet=0.0000;FS=3.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.478;SOR=1.068	GT:AD:DP:GQ:PL	0/1:39,37:76:99:942,0,899	20	0	1	0
chr12	120516635	120516635	A	G	exonic	COQ5	.	nonsynonymous SNV	COQ5:NM_032314:exon3:c.T506C:p.V169A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.936	D	0.000	D	1.000	D	1.12	L	1.13	T	-0.388	T	0.320	T	0.595	4.792	27.0	5.41	2.051	8.983	15.112	0.491	0.0354852189291	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs778498312	4.788e-06	4.788e-06	6.806e-06	2.75e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	1.314e-05	1.313e-05	0	2.691e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.78490	D	0.001	0.83351	D	0.995	0.67487	D	0.936	0.67150	D	0.000066	0.52346	D	0.167290	1	0.81001	D	0.97	0.24054	L	0.06	0.65006	T	-3.87	0.72594	D	0.542	0.56919	-0.3882	0.72398	T	0.320	0.68882	T	10	0.70942676	0.72948	D	0.035485	0.56377	D	0.491	0.77783	0.516	0.61611	0.780469985497	0.77844	0.8303746082175123	0.82996	0.666500385418	0.59201	0.373076289892	0.21273	T	0.318594	0.68995	T	0.073763	0.61303	D	-0.116335	0.62101	T	0.977594435214996	0.71919	D	0.959104	0.85028	D	0.72020644	0.79173	0.75371045	0.85443	0.72020644	0.79174	0.75371045	0.85444	-14.501	0.94571	D	.	.	0.656	0.72927	P	.;.;.;.	.;.;.;.	4.408800	0.68188	25.2	0.99879541098562419	0.95572	0.99160	0.92113	D	AEFDBI	0.900322	0.84571	D	0.669502799540413	0.77634	6.712918	0.691940816053327	0.81768	7.604179	0.999969022352475	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	9.310000	0.95328	11.007000	0.84821	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	1.0:0.0:0.0:0.0	15.112	0.72039	577	0.69927	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1030.98	34	chr12	120516635	.	A	G	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=825;ExcessHet=0.0000;FS=2.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=1.07;SOR=0.462	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1045,0,1141	20	0	1	0
chr12	120640719	120640719	C	T	exonic	CABP1	.	nonsynonymous SNV	CABP1:NM_001033677:exon1:c.C34T:p.P12S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.588	P	0.283	B	.	.	1.000	D	0	N	-1.1	T	-0.766	T	0.195	T	0.161	3.580	18.24	1.71	1.462	1.110	4.714	0.237	0.93541662256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341149712	1.256e-05	3.489e-05	1.466e-05	1.021e-05	0.0004	7.01e-06	5.4e-06	0.0002	0.0001	0	0	0	0.0004	0	0	3.366e-06	4.997e-05	0	6.657e-06	6.574e-06	1.3e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.588	0.38987	P	0.283	0.40424	B	.	.	.	.	0.99964	0.20820	N	0	0.06538	N	-1.1	0.77336	T	-0.15	0.09297	N	0.252	0.28498	-0.7656	0.57099	T	0.195	0.54927	T	9	0.20381647	0.36550	T	0.935417	0.99537	D	0.237	0.54074	0.199	0.11247	0.043077524339	0.03247	0.1987134934351964	0.19788	1.16506249173	0.79592	0.924051880836	0.98616	D	0.009145	0.08348	T	-0.0677523	0.41686	T	-0.335098	0.40900	T	0.487600114258946	0.32176	T	0.553645	0.19140	T	0.106478974	0.25176	0.15613858	0.36570	0.106478974	0.25176	0.15613858	0.36569	-3.625	0.18219	T	.	.	0.147	0.32348	B	.	.	4.585226	0.72471	25.8	0.9981551262181021	0.89885	0.08122	0.14089	N	AEFDBCIJ	0.053507	0.09647	N	-0.21131668483614	0.32668	1.845	-0.163541737214967	0.32891	1.87578	0.993520857858215	0.33249	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	2.64	1.71	0.23429	1.080000	0.30390	4.199000	0.42456	0.430000	0.20916	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8121:0.0:0.1879	4.714	0.12266	264	0.89640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1516.04	12	chr12	120640719	.	C	T	1516.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=332;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0285;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=-6.500e-02;SOR=0.722	GT:AD:DP:GQ:PL	0/1:34,62:96:99:1530,0,705	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:13,5,7,0,0,0:36:11:244,11,428,0,362,558,307,479,518,802,307,479,518,802,802,307,479,518,802,802,802	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:13,5,7,0,0,0:36:11:244,11,428,0,362,558,307,479,518,802,307,479,518,802,802,307,479,518,802,802,802	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:13,5,7,0,0,0:36:11:244,11,428,0,362,558,307,479,518,802,307,479,518,802,802,307,479,518,802,802,802	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:13,5,7,0,0,0:36:11:244,11,428,0,362,558,307,479,518,802,307,479,518,802,802,307,479,518,802,802,802	4	0	0	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	3/3:3,0,2,99,0:111:99:2660,2955,4518,2964,4696,5622,187,369,316,0,2955,4518,4696,369,4518	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	3/3:3,0,2,99,0:111:99:2660,2955,4518,2964,4696,5622,187,369,316,0,2955,4518,4696,369,4518	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	3/3:3,0,2,99,0:111:99:2660,2955,4518,2964,4696,5622,187,369,316,0,2955,4518,4696,369,4518	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	3/3:3,0,2,99,0:111:99:2660,2955,4518,2964,4696,5622,187,369,316,0,2955,4518,4696,369,4518	0	1	2	0
chr12	129074683	129074683	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2492T:p.S831L,	.	.	424	1039	58	1	0	60	0.0280636	.	.	702224	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.086	N	1.000	N	-0.69	N	3.72	T	-1.001	T	0.007	T	0.06	-2.185	0.005	-2.15	-0.525	-0.083	0.365	0.025	.	0.0065	0.00239617	0.0077	0.0013	0.0063	0	0.0074	0.0104	0.0132	0.0056	0.0074967	1159	154602	rs140762080	0.0084	0.0084	0.0083	0.0084	0.0534	0.0082	0.0082	0.0485	0.0466	0.0024	0.0068	0.0300	2.519e-05	0.0068	0.0534	0.0083	0.0102	0.0062	0.0069	0.0070	0.0070	0.0069	0.0090	0.0066	0.0065	0.0084	0.0082	0.0020	0	0.0075	0.0251	0.0002	0.0082	0.0578	0.0090	0.0128	0.0062	0.636	0.05452	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	0.086311	0.02407	N	1.932640	1	0.08975	N	-1.21	0.00826	N	2.93	0.09822	T	-0.43	0.17834	N	0.048	0.01999	-1.0013	0.29545	T	0.007	0.02360	T	9	0.005143881	0.00112	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.15545238082319554	0.15466	0.210139789538	0.23496	0.204422041774	0.00596	T	0.004765	0.04174	T	-0.732468	0.00023	T	-0.817667	0.01500	T	0.000768673486481051	0.00007	T	0.107489	0.00805	T	0.028566381	0.02214	0.021326654	0.00188	0.028566381	0.02214	0.021326654	0.00188	-4.989	0.36720	T	.	.	0.054	0.00375	B	.;.	.;.	0.246131	0.06257	2.713	0.12776534085229038	0.00232	0.01860	0.05742	N	AEFBI	0.059169	0.11156	N	-1.48779133580879	0.01936	0.08496802	-1.48934994486925	0.02431	0.1117993	2.7351116049582E-5	0.03498	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	-2.15	0.06705	0.051000	0.14025	-0.599000	0.08280	-0.531000	0.04959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3823:0.2003:0.2121:0.2054	0.365	0.00345	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5278.11	33	chr12	129074683	.	G	A	5278.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.048;DP=1192;ExcessHet=0.1072;FS=4.047;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.89;SOR=0.742	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1607,0,1732	19	0	2	0
chr12	129074806	129074806	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2369T:p.T790M,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.809	P	0.002	N	1.000	N	2.015	M	2.53	T	-1.088	T	0.062	T	0.247	-0.791	0.701	4.2	2.033	1.613	7.774	0.065	0.0116475414448	.	0.000199681	7.413e-05	0	8.637e-05	0.0001	0	1.498e-05	0	0.0004	7.12e-05	11	154602	rs542438666	4.036e-05	4.036e-05	4.628e-05	3.438e-05	0.0001	3.178e-05	2.91e-05	6.246e-05	4.757e-05	0	8.944e-05	0	2.519e-05	0	0	3.687e-05	4.967e-05	0.0001	4.6e-05	4.594e-05	5.143e-05	4.033e-05	0.0004	2.109e-05	1.527e-05	7.315e-05	3.038e-05	2.409e-05	0	6.543e-05	0	0	0	0	4.41e-05	0	0.0004	0.232	0.18246	T	0.39	0.15506	T	0.532	0.67487	P	0.08	0.58564	B	0.001551	0.38671	N	0.206643	1	0.08975	N	2.52	0.73523	M	2.53	0.14038	T	-1.27	0.37759	N	0.191	0.21056	-1.0877	0.05925	T	0.062	0.25672	T	9	0.055736035	0.06139	T	0.011648	0.29486	T	0.065	0.18881	0.341	0.33302	0.117191471859	0.11215	0.35542534552833716	0.35456	0.597061582168	0.54914	0.536660790443	0.43974	T	0.01098	0.09851	T	-0.415938	0.01816	T	-0.539051	0.18389	T	0.189735278487206	0.19828	T	0.454055	0.45238	T	0.034039885	0.03743	0.06345408	0.12572	0.034039885	0.03743	0.06345408	0.12571	-5.145	0.41255	T	.	.	0.075	0.05491	B	.;.	.;.	2.867023	0.37901	20.6	0.42275651951550053	0.03105	0.39158	0.26150	N	AEFBI	0.101890	0.20453	N	-0.0886962222585448	0.37886	2.210829	-0.182918229158849	0.32164	1.827188	2.23968697445346E-4	0.06048	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	4.2	0.48814	1.181000	0.31626	2.965000	0.35773	0.676000	0.76740	0.615000	0.27871	0.988000	0.31051	0.288000	0.24212	0.0934:0.1798:0.7268:0.0	7.774	0.28191	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1633.98	33	chr12	129074806	.	G	A	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.006e+00;DP=1062;ExcessHet=0.0000;FS=1.399;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-1.233e+00;SOR=0.538	GT:AD:DP:GQ:PL	0/1:57,74:131:99:1648,0,1207	20	0	1	0
chr12	132062526	132062526	-	GCA	exonic	EP400	.	nonframeshift insertion	EP400:NM_015409:exon47:c.8159_8160insGCA:p.Q2748_T2749insQ,	.	.	350	929	220	16	7	259	0.119431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:106,50,0:156:99:899,0,2690,1217,2839,4057	15	0	5	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del,	.	.	350	929	220	16	7	259	0.119431	.	.	3198656	EP400-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:106,50,0:156:99:899,0,2690,1217,2839,4057	15	0	5	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,20,0,0,0:58:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC_A:669,0,1471,783,1541,2324,783,1541,2324,2324,783,1541,2324,2324,2324:132148890	4	2	6	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	0/1:21,23,4,0:52:99:495,0,444,436,484,1185,569,526,1028,1099	1	1	4	0
chr13	23809908	23809908	A	G	exonic	MIPEP	.	nonsynonymous SNV	MIPEP:NM_005932:exon15:c.T1670C:p.M557T,	Combined oxidative phosphorylation deficiency 31, Autosomal recessive	.	465	1047	10	0	0	10	0.00475285	.	.	622420	Lethal_left_ventricular_non-compaction-seizures-hypotonia-cataract-developmental_delay_syndrome|not_provided	MONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228,Orphanet:478049|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.121	B	0.292	B	0.000	D	1.000	D	1.985	M	3.14	T	-1.134	T	0.030	T	0.901	2.188	13.27	6.05	2.320	7.314	14.116	0.421	0.0106449931067	0.0008	0.000199681	0.0010	9.628e-05	0.0006	0	0	0.0008	0.0033	0.0036	0.0009314	144	154602	rs139684349	0.0008	0.0008	0.0007	0.0009	0.0041	0.0007	0.0007	0.0037	0.0036	5.975e-05	0.0002	0	5.045e-05	5.625e-05	0.0019	0.0006	0.0007	0.0041	0.0004	0.0004	0.0004	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	7.218e-05	0	0.0002	0	0	0.0002	0	0.0005	0.0005	0.0041	0.002	0.72154	D	0.005	0.72224	D	0.121	0.26708	B	0.292	0.40739	B	0.000000	0.84330	D	0.000000	0.999879	0.50225	D	2.4	0.69460	M	3.14	0.07920	T	-3.91	0.73042	D	0.91	0.91162	-1.1337	0.01613	T	0.030	0.12848	T	10	0.037929982	0.02177	T	0.010645	0.27409	T	0.421	0.73005	.	.	0.51627217869	0.51271	0.8046808324524232	0.80422	0.143410302846	0.16189	0.561334729195	0.47455	T	0.21153	0.57232	T	-0.128537	0.31733	T	0.0411159	0.73001	D	0.0877914923201039	0.10953	T	0.863614	0.55989	D	0.76766264	0.81908	0.7324693	0.84190	0.76766264	0.81909	0.7324693	0.84191	-10.125	0.74657	D	0.4163511021214496	0.50581	0.404	0.59777	A	.	.	4.008421	0.59116	24.1	0.9851137449125229	0.42349	0.97203	0.73298	D	AEFGBI	0.820070	0.74094	D	0.285100144833084	0.55393	3.703365	0.406944287069491	0.61997	4.408003	0.99999999980958	0.74766	0.706298	0.61202	0	0.688494	0.66719	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.05	6.05	0.98156	7.434000	0.79550	9.306000	0.79917	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	1.0:0.0:0.0:0.0	14.116	0.64686	895	0.25842	Peptidase M3A/M3B catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	33	chr13	23809908	.	A	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.720e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-2.050e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1141,0,980	20	0	1	0
chr13	24688355	24688355	C	G	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon4:c.C265G:p.R89G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.568	P	0.577	P	0.097	N	1.000	D	3.27	M	-1.32	T	0.509	D	0.680	D	0.459	2.677	14.91	5.14	2.666	1.835	16.155	0.453	0.0375955262089	.	.	.	.	.	.	.	.	.	.	.	.	.	rs371217996	8.894e-06	8.893e-06	6.807e-06	1.1e-05	0.0005	4.96e-06	3.82e-06	0.0001	7.555e-05	0	0	0	0	0	0.0005	8.094e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.02	0.58613	D	0.473	0.38507	P	0.577	0.50090	P	0.097288	0.20034	N	0.484292	0.99996	0.52935	D	3.82	0.95555	H	-1.32	0.79761	T	-4.96	0.81985	D	0.613	0.62950	0.509	0.90671	D	0.680	0.88937	D	10	0.73601544	0.74625	D	0.037596	0.57714	D	0.453	0.75279	0.635	0.77142	0.907358655382	0.90643	0.6047894473554423	0.60409	0.436277347098	0.43726	0.188112184405	0.00193	T	0.798246	0.94827	D	0.0813889	0.62203	D	-0.120867	0.61732	T	0.977983355522156	0.72104	D	0.976052	0.91638	D	0.668795	0.76368	0.7272885	0.83889	0.668795	0.76369	0.7272885	0.83890	-11.502	0.82341	D	.	.	0.229	0.49461	B	.;.	.;.	3.598184	0.50813	23.0	0.99205883869792755	0.55442	0.85708	0.44870	D	AEFDBI	0.344611	0.44004	N	0.162422439060192	0.49403	3.140984	0.0730577996544043	0.43200	2.626653	0.999999955575365	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.467745	0.07146	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	1.927000	0.39724	1.407000	0.26247	0.599000	0.40250	0.243000	0.24778	0.001000	0.17328	0.288000	0.24212	0.0:1.0:0.0:0.0	16.155	0.81462	975	0.05339	.;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1267.98	33	chr13	24688355	.	C	G	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.500e-02;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.285;SOR=0.648	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1282,0,1252	20	0	1	0
chr13	24698688	24698688	G	A	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon12:c.G1561A:p.G521S	.	.	395	1100	26	1	0	28	0.0125673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.002	B	0.001	B	0.000	N	0.996	N	0.435	N	-1.19	T	-0.864	T	0.249	T	0.078	1.676	11.56	5.02	2.780	6.751	13.284	0.299	.	0.0086	0.00539137	0.0076	0.0017	0.0041	0	0.0035	0.0085	0.01	0.0152	0.0076325	1180	154602	rs61740542	0.0093	0.0093	0.0091	0.0095	0.0179	0.0092	0.0091	0.0151	0.0141	0.0016	0.0061	0.0035	5.038e-05	0.0042	0.0179	0.0099	0.0096	0.0151	0.0065	0.0065	0.0068	0.0061	0.0127	0.0061	0.0060	0.0101	0.0092	0.0023	0	0.0105	0.0037	0	0.0025	0.0170	0.0088	0.0095	0.0127	0.059	0.37536	T	0.577	0.08594	T	0.002	0.09854	B	0.001	0.04355	B	0.000151	0.00484	N	3.128430	0.996481	0.23000	N	-0.395	0.03011	N	-1.19	0.78427	T	0.77	0.01949	N	0.187	0.20395	-0.8639	0.50981	T	0.249	0.61843	T	10	0.0066615343	0.00151	T	.	.	.	0.299	0.61955	.	.	0.87750021672	0.87630	0.5026235197756048	0.50184	0.218433882186	0.24383	0.435220569372	0.29924	T	0.171121	0.51912	T	-0.479358	0.00746	T	-0.449017	0.27806	T	0.0240620524642196	0.01153	T	0.833717	0.50261	T	0.07455334	0.16739	0.10153284	0.24308	0.07455334	0.16739	0.10153284	0.24308	-2.807	0.08248	T	.	.	0.074	0.04889	B	.;.	.;.	3.802122	0.54790	23.5	0.9807235541002699	0.38038	0.98237	0.80812	D	AEFDBI	0.687592	0.64888	D	-0.128686786996681	0.36145	2.085475	0.0429670881514521	0.41734	2.512213	0.998707492329551	0.37498	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.87	5.02	0.66742	6.716000	0.74519	9.975000	0.82886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0785:0.0:0.9215:0.0	13.284	0.59666	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1051.98	37	chr13	24698688	.	G	A	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=799;ExcessHet=0.0000;FS=3.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-1.594e+00;SOR=1.101	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1066,0,1047	20	0	1	0
chr13	24706425	24706425	C	A	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon15:c.C2149A:p.Q717K	.	.	50	1444	28	0	0	28	0.00960219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.05	L	-3.84	D	0.820	D	0.836	D	0.314	4.976	29.1	5.79	2.727	7.726	17.517	0.698	.	0.0086	0.00539137	0.0075	0.0017	0.0041	0	0.0035	0.0085	0.0099	0.0153	0.0077101	1192	154602	rs61998252	0.0092	0.0092	0.0090	0.0094	0.0182	0.0091	0.0090	0.0154	0.0143	0.0016	0.0061	0.0035	5.038e-05	0.0042	0.0182	0.0097	0.0095	0.0150	0.0064	0.0064	0.0067	0.0061	0.0129	0.0061	0.0060	0.0103	0.0094	0.0023	0	0.0104	0.0037	0	0.0024	0.0170	0.0088	0.0095	0.0129	0.0	0.91255	D	0.17	0.30436	T	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	1	0.81001	D	1.155	0.29575	L	-3.84	0.95826	D	-3.15	0.64132	D	0.777	0.77413	0.820	0.94657	D	0.836	0.94514	D	10	0.014782906	0.00311	T	.	.	.	0.698	0.89099	.	.	0.967406648624	0.96705	0.672687463921611	0.67206	0.941639018701	0.72234	0.680625915527	0.64358	T	0.874764	0.97325	D	-0.154589	0.27595	T	0.0174908	0.71468	D	0.0238445642850442	0.01125	T	0.972203	0.89922	D	0.75096107	0.80924	0.66239905	0.80214	0.75096107	0.80925	0.66239905	0.80215	-12.283	0.86366	D	.	.	0.179	0.42848	B	.;.	.;.	4.039287	0.59786	24.1	0.99597209159881028	0.73983	0.98369	0.82077	D	AEFBI	0.918231	0.88699	D	0.724002362018944	0.81204	7.468144	0.752245816033621	0.86324	8.852937	0.999999999707617	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	7.813000	0.84661	4.912000	0.45962	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:1.0:0.0:0.0	17.517	0.87673	975	0.05339	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3148.11	39	chr13	24706425	.	C	A	3148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.120e-01;DP=944;ExcessHet=0.1072;FS=0.440;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=0.228;SOR=0.739	GT:AD:DP:GQ:PL	0/1:58,67:125:99:1412,0,1183	19	0	2	0
chr13	24868679	24868679	A	G	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon31:c.A4229G:p.Y1410C	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.023	B	0.413	N	0.995	N	1.445	L	3.46	T	-1.021	T	0.038	T	0.362	0.450	6.441	-6.08	-0.807	0.394	4.926	0.062	0.00413184904094	0.0002	0.000199681	4.942e-05	9.612e-05	8.637e-05	0	0	2.997e-05	0	0.0001	4.53e-05	7	154602	rs149803278	1.726e-05	1.984e-05	1.513e-05	1.94e-05	0.0003	1.185e-05	1.001e-05	0.0002	0.0001	0.0003	2.237e-05	0	2.526e-05	0	0	6.363e-06	8.339e-05	1.163e-05	5.256e-05	5.25e-05	5.142e-05	5.374e-05	0.0002	2.557e-05	1.83e-05	3.244e-05	1.911e-05	9.63e-05	0	6.535e-05	0	0	0	0	2.941e-05	0	0.0002	0.187	0.25055	T	0.132	0.35455	T	0.004	0.12183	B	0.023	0.19966	B	0.413332	0.12967	N	0.721459	1	0.08975	N	1.975	0.53506	M	3.33	0.23884	T	-3.36	0.68298	D	0.142	0.14196	-1.0214	0.23259	T	0.038	0.16376	T	10	0.061771303	0.07797	T	0.004132	0.09900	T	0.062	0.17934	.	.	0.0675242888579	0.06100	0.4903659908549865	0.48956	0.272769607499	0.29784	0.448964416981	0.31801	T	0.381599	0.74388	T	-0.344102	0.05109	T	-0.495387	0.22827	T	0.0461154034451073	0.04804	T	0.675632	0.28627	T	0.106961034	0.25292	0.14498673	0.34403	0.106961034	0.25291	0.14498673	0.34402	-4.238	0.27298	T	.	.	0.135	0.29450	B	.;.;.	.;.;.	1.246194	0.16423	12.53	0.6672399873706687	0.08143	0.28869	0.23670	N	AEFBI	0.081109	0.16408	N	-1.13995113959194	0.05947	0.2724913	-1.13722123548726	0.06999	0.3388829	0.970534603855141	0.29215	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.93	-6.08	0.01969	0.470000	0.21795	2.594000	0.33484	-0.641000	0.04447	0.843000	0.30332	0.931000	0.28545	0.691000	0.33868	0.3023:0.0875:0.0635:0.5466	4.926	0.13246	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1241.98	50	chr13	24868679	.	A	G	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.380e-01;DP=1142;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.742;SOR=0.871	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1256,0,1098	20	0	1	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,41,0:207:99:0|1:25097005_A_G:1182,0,6847,1682,6970,8652:25097005	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:166,0,41:207:99:0|1:25097005_A_G:1182,1682,8652,0,6970,6847:25097005	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:166,0,41:207:99:0|1:25097005_A_G:1182,1682,8652,0,6970,6847:25097005	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,40,0:204:99:0|1:25097005_A_G:1182,0,6619,1675,6740,8415:25097005	4	0	16	0
chr13	36438747	36438747	A	G	exonic	CCNA1	.	nonsynonymous SNV	CCNA1:NM_001111045:exon5:c.A770G:p.Y257C	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.18	H	2.16	T	-0.403	T	0.230	T	0.923	2.986	15.96	4.13	0.925	7.115	11.727	0.520	0.0714429863132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.355	0.91145	M	2.16	0.19166	T	-8.69	0.97617	D	0.872	0.86941	-0.4033	0.71923	T	0.230	0.59620	T	10	0.9608975	0.95498	D	0.071443	0.71270	D	0.520	0.79583	0.831	0.94042	0.81422016521	0.81247	0.675421110659819	0.67480	1.37292038186	0.84581	0.680161058903	0.64291	T	0.302442	0.67484	T	0.25221	0.78808	D	0.124506	0.78531	D	0.997956871986389	0.92847	D	0.98969	0.96662	D	0.81496716	0.84883	0.7185796	0.83386	0.81496716	0.84884	0.7185796	0.83387	-9.233	0.69185	D	.	.	0.857	0.80167	P	.;.;.;.	.;.;.;.	5.175494	0.86765	29.0	0.99535809565871658	0.70150	0.97243	0.73538	D	AEDBI	0.835457	0.75336	D	0.617847111495403	0.74303	6.109863	0.405668489240856	0.61915	4.398784	0.999999997562069	0.74766	0.706298	0.61202	0	0.475579	0.06741	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.33	4.13	0.47661	7.166000	0.77118	11.221000	0.89777	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.8675:0.0:0.0:0.1325	11.727	0.50984	905	0.23532	.;.;Cyclin, N-terminal|Cyclin, N-terminal|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1153.98	36	chr13	36438747	.	A	G	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.474e+00;DP=797;ExcessHet=0.0000;FS=0.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.581;SOR=0.734	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1168,0,1175	20	0	1	0
chr13	38691375	38691375	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.G4031A:p.R1344H,	Fraser syndrome, Autosomal recessive	YES	2	1496	24	0	0	24	0.00795756	.	.	334576	FREM2-related_disorder|Isolated_cryptophthalmia|Fraser_syndrome_2|Congenital_anomaly_of_kidney_and_urinary_tract|not_provided|not_specified|Congenital_diaphragmatic_hernia	.|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.527	P	0.085	B	0.000	D	1.000	D	1.275	L	0.57	T	-0.999	T	0.122	T	0.741	3.091	16.32	5.81	2.746	7.985	17.017	0.218	0.00828160330622	0.0019	0.00199681	0.0037	0.0008	0.0010	0.0001	0.0056	0.0036	0.0055	0.0090	0.003454	534	154602	rs143044921	0.0030	0.0030	0.0028	0.0033	0.0093	0.0030	0.0029	0.0088	0.0086	0.0005	0.0009	0.0015	2.519e-05	0.0063	0.0049	0.0027	0.0032	0.0093	0.0025	0.0025	0.0023	0.0028	0.0050	0.0023	0.0022	0.0034	0.0033	0.0003	0	0.0014	0.0020	0.0002	0.0055	0.0068	0.0038	0.0009	0.0050	0.191	0.21066	T	0.194	0.28120	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.57	0.54347	T	-2.35	0.51968	N	0.649	0.66016	-0.9987	0.30283	T	0.122	0.42357	T	10	0.00933212	0.00211	T	0.008282	0.21928	T	0.218	0.51265	.	.	0.574670332726	0.57135	0.5975888075421643	0.59689	0.194995630506	0.21838	0.400006681681	0.25069	T	.	.	.	-0.223529	0.17514	T	-0.0864691	0.64427	T	0.0267143234646331	0.01504	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23360	B	.	.	4.336853	0.66495	25.0	0.99908027591708826	0.97801	0.98242	0.80858	D	AEFBI	0.877977	0.80295	D	0.325135943766178	0.57442	3.911485	0.481565071732744	0.66771	4.995424	0.999999999820025	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	8.113000	0.89423	9.943000	0.82671	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1269:0.8731:0.0	17.017	0.86294	938	0.14419	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2860.11	37	chr13	38691375	.	G	A	2860.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.21;DP=1330;ExcessHet=0.1072;FS=3.289;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.38;SOR=0.813	GT:AD:DP:GQ:PL	0/1:75,58:133:99:1377,0,1622	19	0	2	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,40:108:99:.:.:414,0,1002	0	0	20	1
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.971	D	0.825	P	0.910	N	0.739	N	2.18	M	0.83	T	-0.884	T	0.220	T	0.154	2.402	13.99	3.16	0.775	0.044	7.319	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	275.26	20	chr13	44965897	.	C	G	275.26	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-8.290e-01;DP=490;ExcessHet=0.3300;FS=224.614;InbreedingCoeff=-0.1660;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.00;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,23:92:99:.:.:146,0,2024	13	0	3	5
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	0/1:97,39:136:48:48,0,1525	8	0	10	3
chr13	110456857	110456857	-	GTGCGT	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.867_868insACGCAC:p.Q289_G290insTH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs761893253	0.0011	0.0006	0.0010	0.0011	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0.0003	0.0010	0	0.0005	0	0.0012	0.0008	0.0018	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0003	0.0004	0.0004	2.433e-05	0	0.0002	0.0006	0	0.0006	0	0.0005	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2752.94	68	chr13	110456857	.	C	CGTGCGT	2752.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-02;DP=1571;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.70;MQRankSum=-2.863e+00;QD=14.80;ReadPosRankSum=-1.619e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,75:186:99:0|1:110456810_G_A:2767,0,4404:110456810	20	0	1	0
chr13	110456862	110456862	-	TGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.862_863insTGCACGGCATCAGCCCCACGGACGCCTGGGGTCCCA:p.Q287_T288insMHGISPTDAWGP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs759360698	0.0010	0.0007	0.0009	0.0011	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0003	0.0009	0	0.0004	0	0.0011	0.0007	0.0019	0.0004	0.0004	0.0005	0.0003	0.0010	0.0003	0.0003	0.0004	0.0004	2.584e-05	0	0.0002	0.0006	0	0.0006	0	0.0006	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2674.94	68	chr13	110456862	.	G	GTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	2674.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.860;DP=1391;ExcessHet=0.0000;FS=2.716;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=56.32;MQRankSum=-3.167e+00;QD=15.20;ReadPosRankSum=-1.448e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/1:111,65:176:99:2689,0,4392	20	0	1	0
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,34,0:114:99:1|0:110456810_G_A:783,0,3211,1024,3310,4334:110456810	0	0	8	12
chr13	110456968	110456968	C	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.757delG:p.D253Tfs*105,	.	.	337	1183	1	1	0	3	0.00126636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs753573551	9.671e-06	0.0004	0	1.7e-05	6.003e-06	2.57e-06	7.1e-07	.	.	0	0	0	0	0.0001	0	6.003e-06	0	0	0.0009	0.0026	0.0010	0.0008	0.0020	0.0007	0.0007	0.0010	0.0008	0.0003	0	0.0016	0.0011	0.0015	0.0008	0	0.0010	0	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	404.16	47	chr13	110456967	.	TC	T	404.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=792;ExcessHet=0.1072;FS=44.071;InbreedingCoeff=-0.0529;MLEAC=2;MLEAF=0.048;MQ=44.95;MQRankSum=0.935;QD=2.87;ReadPosRankSum=-4.060e+00;SOR=3.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,13:107:99:1|0:110456810_G_A:200,0,3749:110456810	19	0	2	0
chr13	110719251	110719251	G	C	exonic	ING1	.	nonsynonymous SNV	ING1:NM_001267728:exon2:c.G108C:p.E36D	Squamous cell carcinoma, head and neck, somatic	.	8	1509	4	1	0	6	0.00198413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.129	B	0.14	B	0.004	N	1.000	N	-0.055	N	0.84	T	-0.970	T	0.045	T	0.054	-1.809	0.009	-6.52	-0.941	-1.095	8.676	0.024	0.00633789217804	0.0005	0.000599042	0.0009	0	0.0003	0	0	0.0010	0	0.0020	0.0007115	110	154602	rs138276642	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0017	0.0016	0	6.708e-05	0.0134	0	0	0.0012	9.083e-05	0.0013	0.0020	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0	0	0	0.0182	0	0	0	0.0001	0	0.0021	1.0	0.16738	T	0.895	0.15602	T	0.0	0.02946	B	0.002	0.06944	B	0.003665	0.34636	N	0.332010	1	0.81001	D	.	.	.	0.84	0.47477	T	0.04	0.10308	N	0.111	0.09772	-0.9697	0.37262	T	0.045	0.19275	T	10	0.003244102	0.00055	T	0.006338	0.16668	T	0.024	0.04979	0.338	0.32816	0.254244900254	0.25046	0.05736288601001435	0.05677	1.03796569451	0.75674	0.530464112759	0.43100	T	0.025902	0.19278	T	-0.645014	0.00078	T	-0.706558	0.05475	T	0.0160968410488355	0.00387	T	0.806819	0.45805	T	.	.	.	.	.	.	.	.	-3.995	0.23729	T	.	.	0.056	0.09288	B	.;.;.;.	.;.;.;.	-0.505994	0.01848	0.148	0.1955308789083853	0.00665	0.09699	0.15396	N	AEFDBCI	0.044636	0.07205	N	-1.41968783469531	0.02466	0.1089312	-1.4647385711663	0.02639	0.1217504	0.999999890866248	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.13	-6.52	0.01703	-1.070000	0.03551	-3.663000	0.02622	0.526000	0.24426	0.017000	0.19353	0.000000	0.08366	0.351000	0.25682	0.1068:0.6016:0.1721:0.1195	8.676	0.33343	982	0.03397	.;.;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2185.11	34	chr13	110719251	.	G	C	2185.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.944;DP=861;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.66;SOR=0.667	GT:AD:DP:GQ:PL	0/1:34,41:75:99:868,0,686	19	0	2	0
chr13	112068499	112068567	GCGGCCGCCGCCGCCGCCGCTGCGGGCGGCGCGCACCAGAACTCGGCCGTGGCGGCGGCGGCGGCGGCG	-	exonic	SOX1	.	nonframeshift deletion	SOX1:NM_005986:exon1:c.841_909del:p.A284_A306del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0072	0.0015	0.0020	0.0205	0.0017	0.0016	0.0158	0.0141	0.0015	0.0205	0.0045	0.0149	0.0470	0.0057	0.0013	0.0024	0.0005	0	6.854e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	857.95	24	chr13	112068498	.	CGCGGCCGCCGCCGCCGCCGCTGCGGGCGGCGCGCACCAGAACTCGGCCGTGGCGGCGGCGGCGGCGGCG	C	857.95	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=616;ExcessHet=0.0000;FS=5.952;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=-1.440e-01;SOR=1.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,26:98:99:0|1:112068498_CGCGGCCGCCGCCGCCGCCGCTGCGGGCGGCGCGCACCAGAACTCGGCCGTGGCGGCGGCGGCGGCGGCG_C:872,0,2846:112068498	20	0	1	0
chr14	19868573	19868573	C	T	exonic	OR4K3	.	unknown	UNKNOWN,	.	.	864	655	3	0	0	3	0.00228484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs537642452	0.0002	0.0001	0.0003	0.0001	0.0011	0.0002	0.0001	0.0003	0.0002	0	0.0005	0	0	0	0.0011	0.0002	0.0002	0.0010	0.0001	0.0002	0.0001	0.0002	0.0017	9.741e-05	8.255e-05	0.0008	0.0006	7.221e-05	0	0.0001	0	0	0	0	0.0001	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	708.98	118	chr14	19868573	.	C	T	708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=5070;ExcessHet=0.0000;FS=9.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.86;ReadPosRankSum=-6.350e-01;SOR=1.023	GT:AD:DP:GQ:PL	0/1:199,49:248:99:723,0,4838	20	0	1	0
chr14	19876640	19876640	G	A	exonic	OR4K2	.	nonsynonymous SNV	OR4K2:NM_001005501:exon1:c.G373A:p.A125T,	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.972	D	3.87	H	5.55	T	-1.129	T	0.026	T	0.618	4.386	23.2	5.12	2.660	6.011	16.106	0.294	0.00381403962977	0.0002	.	0.0007	0	0.0006	0	0	0.0006	0	0.0022	0.0005498	85	154602	rs199718838	0.0003	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0015	0.0014	2.987e-05	0.0008	0.0051	5.038e-05	0	0.0014	0.0001	0.0006	0.0017	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	4.811e-05	0	0.0002	0.0055	0	0	0	0.0002	0	0.0014	0.0	0.91255	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000152	0.49130	D	0.000000	0.971681	0.38889	D	3.915	0.96218	H	5.55	0.00874	T	-3.96	0.73579	D	0.72	0.72209	-1.1290	0.01830	T	0.026	0.11176	T	10	0.013000846	0.00277	T	0.003814	0.08899	T	0.294	0.61388	.	.	0.694030465916	0.69139	0.25058669426675756	0.24972	6.02644642598E-4	0.00059	0.398348093033	0.24838	T	0.013997	0.11998	T	-0.315633	0.07261	T	-0.232946	0.51486	T	0.162378281321249	0.18046	T	0.906609	0.67067	D	0.93937844	0.95184	0.92388666	0.96671	0.93937844	0.95185	0.92388666	0.96671	-9.306	0.69645	D	.	.	0.390	0.58988	A	.;.	.;.	4.892654	0.80347	27.3	0.99911372261861997	0.98095	0.97918	0.78116	D	AEFGI	0.556003	0.56621	D	0.955400145024306	0.94196	12.57404	0.859443093134322	0.93554	12.12126	0.999992226678659	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	7.924000	0.86974	9.222000	0.79302	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	16.106	0.81029	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	744.98	71	chr14	19876640	.	G	A	744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.508e+00;DP=1395;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.62;ReadPosRankSum=0.221;SOR=0.652	GT:AD:DP:GQ:PL	0/1:224,60:284:99:759,0,5428	20	0	1	0
chr14	21085797	21085797	C	T	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon19:c.C1927T:p.P643S	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.017	B	0.018	B	0.002	N	0.996	N	1.275	L	2.77	T	-1.054	T	0.023	T	0.191	0.611	7.289	4.44	2.586	0.097	7.849	0.085	0.00476066575157	.	.	8.264e-06	0	8.655e-05	0	0	0	0	0	6.5e-06	1	154602	rs748474481	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.47	0.08483	T	0.263	0.22828	T	0.017	0.17573	B	0.008	0.13708	B	0.002029	0.37411	N	0.123853	0.996459	0.23010	N	1.245	0.31408	L	2.77	0.11407	T	0.01	0.06868	N	0.27	0.30574	-1.0535	0.13440	T	0.023	0.09650	T	10	0.047242522	0.04017	T	0.004761	0.11879	T	0.085	0.24743	0.437	0.48993	0.322510055762	0.31862	0.47025139822132767	0.46944	0.245885684845	0.27115	0.448224335909	0.31701	T	0.00601	0.05450	T	-0.393706	0.02546	T	-0.63418	0.10099	T	0.112266914238153	0.13656	T	0.739226	0.35772	T	0.060136758	0.12305	0.051012747	0.08125	0.060136758	0.12304	0.051012747	0.08124	-5.958	0.45926	T	.	.	0.106	0.19639	B	.	.	2.305630	0.29507	18.14	0.92519096907926357	0.21960	0.11659	0.16779	N	AEFBCI	0.088514	0.17944	N	-0.277573789612731	0.30017	1.669823	-0.150602342809032	0.33387	1.909164	0.999999983223754	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.52	4.44	0.53164	-0.011000	0.12659	3.314000	0.37488	0.599000	0.40250	0.000000	0.06391	0.998000	0.33993	0.996000	0.76049	0.0:0.7341:0.1685:0.0974	7.849	0.28606	958	0.09170	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1874.98	34	chr14	21085797	.	C	T	1874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=856;ExcessHet=0.0000;FS=0.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.635;SOR=0.781	GT:AD:DP:GQ:PL	0/1:70,84:154:99:1889,0,1417	20	0	1	0
chr14	21087989	21087989	C	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278530:exon21:c.C2123A:p.S708Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.991	D	0.000	D	0.931	D	0.55	N	4.07	T	-1.012	T	0.023	T	0.747	3.580	18.24	5.36	2.524	3.549	14.571	0.183	0.0124564039043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	0.998	0.73220	D	0.991	0.79672	D	0.000256	0.46924	D	0.000000	0.931029	0.36976	D	0.55	0.14455	N	3.96	0.03354	T	-0.98	0.25986	N	0.527	0.55626	-1.0120	0.26291	T	0.023	0.09741	T	10	0.38054192	0.54160	T	0.012456	0.31052	T	0.183	0.45592	0.303	0.27164	0.459552425292	0.45580	0.5397186517066594	0.53896	0.977210706382	0.73603	0.657819867134	0.61098	T	0.028837	0.20796	T	0.0273104	0.55364	T	-0.198547	0.54783	T	0.861373841762543	0.51177	D	0.862114	0.55677	D	0.47522867	0.65610	0.49140364	0.70578	0.47522867	0.65610	0.49140364	0.70579	-6.436	0.49790	T	.	.	0.324	0.54789	B	.	.	5.596804	0.92423	32	0.99484363296827039	0.67069	0.71828	0.35183	D	AEFDBHCIJ	0.695956	0.65445	D	0.547130734265843	0.69908	5.424259	0.58261050408274	0.73694	6.012518	0.999999999999864	0.74766	0.722319	0.85440	0	0.626922	0.53725	0	0.698795	0.65105	0	0.463824	0.07026	1	.	.	5.36	5.36	0.76624	3.599000	0.53795	7.736000	0.67890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	14.571	0.67800	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	451.98	42	chr14	21087989	.	C	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=-7.220e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:54,25:79:99:466,0,1283	20	0	1	0
chr14	21325898	21325898	G	A	exonic	RPGRIP1	.	nonsynonymous SNV	RPGRIP1:NM_001377948:exon7:c.G1361A:p.R454Q	Cone-rod dystrophy 13;Leber congenital amaurosis 6	.	0	1506	15	1	0	17	0.00561241	.	.	693453	Leber_congenital_amaurosis_6|Cone-rod_dystrophy_13|not_provided|RPGRIP1-related_disorder	MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65|MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.87	T	0.398	B	0.04	B	0.287	N	1.000	N	0.37	N	-0.33	T	-0.744	T	0.284	T	0.662	-0.405	2.107	-6.62	-1.404	-2.075	15.125	0.490	0.0322246945111	0.0002	0.000798722	0.0011	0.0004	0.0003	0	0	0.0003	0.0011	0.0067	0.0009638	149	154602	rs190490019	0.0006	0.0006	0.0004	0.0008	0.0064	0.0006	0.0006	0.0060	0.0058	0.0002	0.0003	0	0	3.745e-05	0.0050	0.0002	0.0007	0.0064	0.0004	0.0004	0.0004	0.0005	0.0054	0.0003	0.0003	0.0038	0.0032	0.0003	0.0022	0.0002	0	0	0	0.0102	0.0003	0	0.0054	1.0	0.00964	T	0.541	0.09725	T	0.349	0.33622	B	0.032	0.22131	B	0.286809	0.14842	N	0.684772	0.999906	0.50806	D	0.44	0.12706	N	-2.27	0.87433	D	-0.84	0.22944	N	0.187	0.20395	-0.7438	0.58257	T	0.284	0.65586	T	10	0.006747812	0.00153	T	0.032225	0.54110	D	0.490	0.77720	.	.	0.475272412942	0.47157	0.3015833549836947	0.30071	0.0805848671954	0.09068	0.191362947226	0.00250	T	0.032141	0.34889	T	-0.280589	0.10605	T	-0.17335	0.57136	T	0.00918810290993421	0.00116	T	0.686231	0.30012	T	0.04214113	0.06338	0.06329578	0.12517	0.04487034	0.07249	0.053364787	0.08975	-5.598	0.42774	T	0.11389275314824104	0.10018	0.066	0.02829	B	.;.;.	.;.;.	-0.875070	0.00968	0.038	0.7542875413159863	0.11071	0.02542	0.07062	N	AEFGBI	0.086511	0.17540	N	-1.46759665035174	0.02082	0.09157344	-1.46362393799583	0.02649	0.1222133	0.999992836418719	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.71	-6.62	0.01646	-2.780000	0.00843	-5.372000	0.01743	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.920000	0.45560	0.6499:0.0:0.3501:0.0	15.125	0.72152	952	0.10565	C2 domain;C2 domain;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	1	0	0	1	0	0	0	0.02381	987.98	39	chr14	21325898	.	G	A	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=815;ExcessHet=0.0000;FS=1.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.748;SOR=0.525	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1002,0,1180	20	0	1	0
chr14	21525225	21525225	G	A	exonic	SALL2	.	nonsynonymous SNV	SALL2:NM_001364564:exon2:c.C497T:p.P166L	.	.	410	1088	23	1	0	25	0.0113585	.	.	714061	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.3	T	0.076	B	0.005	B	0.043	U	0.998	N	1.04	L	0.96	T	-0.828	T	0.191	T	0.354	0.575	7.104	3.55	1.078	-1.096	5.375	0.068	.	0.0045	0.00678914	0.0074	0.0015	0.0015	0.0150	0.0062	0.0083	0.0011	0.0084	0.0069986	1082	154602	rs144885457	0.0071	0.0071	0.0069	0.0073	0.0191	0.0070	0.0069	0.0179	0.0175	0.0011	0.0018	0.0039	0.0191	0.0062	0.0064	0.0072	0.0059	0.0079	0.0053	0.0053	0.0052	0.0055	0.0151	0.0050	0.0049	0.0124	0.0114	0.0014	0	0.0031	0.0026	0.0151	0.0061	0.0102	0.0074	0.0047	0.0085	0.006	0.61437	D	0.062	0.76473	T	.	.	.	.	.	.	0.042520	0.23835	U	0.208574	1	0.22536	N	.	.	.	0.96	0.42888	T	-0.54	0.16598	N	0.369	0.41063	-0.8278	0.53442	T	0.191	0.54315	T	10	0.0059674084	0.00134	T	.	.	.	0.068	0.19811	.	.	0.483521307902	0.47985	0.2965859705162703	0.29571	.	.	0.647013247013	0.59561	T	0.014523	0.12349	T	-0.483676	0.00704	T	-0.45457	0.27194	T	0.00542632714867944	0.00059	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.36254	B	.;.	.;.	3.522548	0.49381	22.8	0.9901226572476084	0.50399	0.58440	0.30642	D	AEFBCI	0.203746	0.33023	N	-0.554175389964988	0.20352	1.07229	-0.519018234792732	0.21637	1.171429	0.999947545010057	0.47345	0.627647	0.40530	0	0.588015	0.36545	0	0.672317	0.60874	0	0.586402	0.36253	0	.	.	4.46	3.55	0.39770	0.128000	0.15636	9.916000	0.82466	0.672000	0.70159	0.111000	0.23011	1.000000	0.68203	0.946000	0.48989	0.1017:0.0:0.6959:0.2024	5.375	0.15460	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	740.98	41	chr14	21525225	.	G	A	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=921;ExcessHet=0.0000;FS=2.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-1.846e+00;SOR=0.857	GT:AD:DP:GQ:PL	0/1:26,32:58:99:755,0,588	20	0	1	0
chr14	23301730	23301730	G	T	exonic	PPP1R3E	.	nonsynonymous SNV	PPP1R3E:NM_001276318:exon2:c.C546A:p.D182E,	.	.	381	1140	1	0	0	1	0.000438404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.006	U	1.000	D	.	.	-0.0	T	-0.413	T	0.319	T	0.549	4.768	26.8	4.76	2.472	1.328	10.310	0.354	0.922734118274	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs930997612	0.0001	0.0001	0.0001	9.023e-05	0.0003	9.382e-05	8.793e-05	0.0001	0.0001	0	5.081e-05	4.7e-05	0	0	0.0003	0.0001	1.943e-05	0	4.611e-05	4.599e-05	6.437e-05	2.698e-05	8.832e-05	2.114e-05	1.53e-05	3.766e-05	2.578e-05	0	0	6.559e-05	0	0	0	0	8.832e-05	0	0	0.009	0.57480	D	0.013	0.63109	D	.	.	.	.	.	.	0.005615	0.32654	U	0.114014	0.999663	0.48141	D	0.69	0.16971	N	-0.0	0.62608	T	-1.32	0.32991	N	0.388	0.42931	-0.4127	0.71624	T	0.319	0.68839	T	7	0.4323878	0.57575	T	0.922734	0.99433	D	0.354	0.67510	0.571	0.69431	0.348983352498	0.34513	0.4911857667655528	0.49039	.	.	0.951057434082	0.99773	D	0.063089	0.32086	T	-0.0443099	0.45307	T	-0.107116	0.62840	T	0.450525492429733	0.30817	T	0.50025	0.15636	T	0.30167073	0.53054	0.3513654	0.60731	0.30167073	0.53054	0.3513654	0.60730	-7.723	0.59167	D	.	.	0.837	0.79086	P	.	.	4.609409	0.73081	25.9	0.99661730720406283	0.78011	0.72126	0.35315	D	ALL	0.364503	0.45302	N	0.26071795204723	0.54170	3.583379	0.315907232019369	0.56475	3.81078	1.0	0.98316	0.024636	0.00146	3	0.374146	0.05931	1	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.76	4.76	0.60189	1.747000	0.37925	9.372000	0.80454	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0918:0.0:0.9082:0.0	10.310	0.42887	814	0.42100	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1517.98	34	chr14	23301730	.	G	T	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.259;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=0.130;SOR=0.724	GT:AD:DP:GQ:PL	0/1:87,69:156:99:1532,0,2047	20	0	1	0
chr14	23559828	23559828	C	T	exonic	AP1G2	.	nonsynonymous SNV	AP1G2:NM_001354675:exon19:c.G1136A:p.R379H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.97	D	0.000	D	1.000	D	2.775	M	0.72	T	-0.725	T	0.057	T	0.637	4.484	24.0	5.04	1.506	1.613	13.184	0.362	.	0.0005	0.0111821	0.0075	9.796e-05	0.0002	0.0517	0.0369	0.0028	0.0113	0.0012	0.0064747	1001	154602	rs74849041	0.0032	0.0032	0.0033	0.0032	0.0519	0.0031	0.0031	0.0500	0.0493	2.987e-05	4.472e-05	0.0023	0.0519	0.0343	0.0009	0.0003	0.0039	0.0016	0.0050	0.0050	0.0033	0.0069	0.0552	0.0047	0.0046	0.0500	0.0479	2.407e-05	0	0.0003	0.0040	0.0552	0.0369	0	0.0007	0.0033	0.0035	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	0.999434	0.81001	D	3.165	0.88605	M	0.72	0.50976	T	-3.56	0.68880	D	0.444	0.48411	-0.7248	0.59224	T	0.057	0.23866	T	10	0.012876421	0.00275	T	.	.	.	0.362	0.68230	.	.	0.396044805602	0.39223	0.6023810311381542	0.60169	0.185147739358	0.20815	0.370988547802	0.20974	T	0.485867	0.81259	T	-0.288247	0.09813	T	-0.145843	0.59609	T	0.0875436066255725	0.10923	T	0.845215	0.52386	T	0.8003318	0.83926	0.684596	0.81456	0.8003318	0.83928	0.684596	0.81457	-10.379	0.76149	D	.	.	0.177	0.38640	B	.;.	.;.	4.762872	0.77023	26.6	0.9995605048267151	0.99975	0.59363	0.30895	D	AEFDBHCI	0.272572	0.38818	N	0.650681087010033	0.76415	6.481859	0.59938112490599	0.74895	6.215647	0.99999998584646	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.93	5.04	0.67293	1.446000	0.34701	4.021000	0.41251	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8402:0.1598:0.0	13.184	0.59093	516	0.74704	Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain|Gamma-adaptin ear (GAE) domain|Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain;Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain|Gamma-adaptin ear (GAE) domain|Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain	.	.	.	.	rs74849041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1115.98	35	chr14	23559828	.	C	T	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-2.640e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1130,0,1492	20	0	1	0
chr14	24097052	24097052	G	A	exonic	PCK2	.	nonsynonymous SNV	PCK2:NM_001018073:exon2:c.G190A:p.D64N	PEPCK deficiency, mitochondrial, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	550003	PCK2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.05	D	0.159	B	0.203	B	0.000	N	1.000	D	2.245	M	2.57	T	-1.132	T	0.026	T	0.048	3.780	19.19	3.7	0.812	6.344	10.423	0.152	.	0.0058	0.00658946	0.0018	0.0178	0.0011	0	0	0.0002	0	0.0001	0.0017594	272	154602	rs10132601	0.0006	0.0006	0.0007	0.0006	0.0187	0.0006	0.0006	0.0175	0.0170	0.0187	0.0011	0	0	3.745e-05	0.0045	0.0001	0.0017	9.275e-05	0.0050	0.0051	0.0056	0.0045	0.0173	0.0047	0.0046	0.0162	0.0158	0.0173	0	0.0018	0	0	9.464e-05	0.0136	0.0001	0.0047	0	0.05	0.40832	D	0.032	0.53426	D	0.159	0.28304	B	0.203	0.37000	B	0.000016	0.62929	N	0.151424	1	0.81001	D	2.66	0.77858	M	2.57	0.13552	T	-2.58	0.60188	D	0.358	0.40665	-1.1316	0.01707	T	0.026	0.11176	T	10	0.011896849	0.00258	T	.	.	.	0.152	0.39956	.	.	0.387689773709	0.38380	0.8162389029905812	0.81579	0.0594577164127	0.06608	0.569153487682	0.48558	T	0.010581	0.51232	T	-0.599105	0.00148	T	-0.618413	0.11309	T	0.088638744409447	0.11055	T	.	.	.	0.16078733	0.36043	0.28085598	0.54063	0.14253193	0.32796	0.2322279	0.48376	-9.647	0.74586	D	.	.	0.103	0.18331	B	.;.;.	.;.;.	3.396670	0.47056	22.4	0.99636177358624989	0.76387	0.94546	0.61516	D	AEFBHCI	0.906408	0.85914	D	-0.0438646951985743	0.39877	2.358832	0.0644143350021404	0.42774	2.593154	0.9999999870033	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.696144	0.63334	0	0.683762	0.67416	0	.	.	5.52	3.7	0.41607	6.508000	0.73632	6.602000	0.56060	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.1606:0.0:0.8394:0.0	10.423	0.43546	883	0.28872	Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal;Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal;Phosphoenolpyruvate carboxykinase, GTP-utilising, 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	0.02381	769.98	34	chr14	24097052	.	G	A	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=802;ExcessHet=0.0000;FS=2.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.20;ReadPosRankSum=0.751;SOR=1.022	GT:AD:DP:GQ:PL	0/1:68,39:107:99:784,0,1486	20	0	1	0
chr14	24211446	24211446	C	T	exonic	CHMP4A	.	nonsynonymous SNV	CHMP4A:NM_014169:exon3:c.G328A:p.A110T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.99	D	0.036	N	1.000	D	2.3	M	-0.66	T	-0.480	T	0.323	T	0.423	4.781	26.9	3.7	1.163	5.447	10.338	0.207	0.0156446769504	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455433984	6.854e-07	1.368e-06	0	1.379e-06	9.012e-07	0	0	.	.	0	0	0	0	0	0	9.012e-07	0	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	0.039	0.42783	D	0.007	0.76473	D	0.999	0.77913	D	0.99	0.78936	D	0.036459	0.24520	N	0.290138	0.985021	0.40226	D	2	0.54354	M	-0.66	0.72348	T	-0.03	0.66549	N	0.567	0.59053	-0.4804	0.69352	T	0.323	0.69221	T	10	0.6363141	0.68802	D	0.015645	0.36500	T	0.499	0.78288	0.709	0.84509	0.551261960702	0.54783	.	.	0.0804777048085	0.09054	0.470874667168	0.34801	T	0.48722	0.81337	T	0.0339066	0.56243	T	-0.189072	0.55677	T	0.768654205446276	0.44358	D	.	.	.	0.12418626	0.29144	0.45296592	0.68182	0.12418626	0.29144	0.45296592	0.68182	-5.314	0.40081	T	.	.	0.179	0.39081	B	.;.;.;.;.	.;.;.;.;.	4.101809	0.61165	24.3	0.99926661056033572	0.99103	0.86707	0.46045	D	AEFDBHCI	0.694693	0.65361	D	0.294177038330491	0.55852	3.749426	0.305739495709424	0.55877	3.750494	0.999999998077919	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.59	3.7	0.41607	6.017000	0.70457	1.216000	0.24942	0.599000	0.40250	1.000000	0.71638	0.961000	0.29326	0.996000	0.76049	0.0:0.9033:0.0:0.0967	10.338	0.43044	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	533.98	34	chr14	24211446	.	C	T	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=763;ExcessHet=0.0000;FS=1.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=1.32;SOR=0.871	GT:AD:DP:GQ:PL	0/1:31,24:55:99:548,0,749	20	0	1	0
chr14	24507429	24507429	C	G	exonic	CMA1	.	nonsynonymous SNV	CMA1:NM_001836:exon2:c.G136C:p.G46R,	.	.	424	1064	32	2	0	36	0.0166359	.	.	725649	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.96	D	0.54	P	0.727	N	1.000	N	0.965	L	0.22	T	-0.910	T	0.121	T	0.316	1.707	11.67	-1.23	-0.338	0.051	8.535	0.152	0.0772632775056	0.0043	0.00279553	0.0045	0.0010	0.0041	0	0.0085	0.0058	0.0077	0.0023	0.0043078	666	154602	rs5246	0.0041	0.0041	0.0040	0.0042	0.0160	0.0040	0.0040	0.0133	0.0123	0.0009	0.0031	0.0085	0	0.0106	0.0160	0.0040	0.0040	0.0032	0.0038	0.0039	0.0037	0.0040	0.0052	0.0036	0.0035	0.0048	0.0046	0.0009	0.0022	0.0024	0.0078	0	0.0087	0.0204	0.0052	0.0081	0.0023	0.022	0.48642	D	0.124	0.35455	T	0.96	0.55278	D	0.54	0.48825	P	0.727327	0.06349	N	1.155740	1	0.08975	N	1.62	0.41497	L	0.22	0.59851	T	-4.26	0.76174	D	0.279	0.31590	-0.9096	0.46904	T	0.121	0.42187	T	10	0.0063990355	0.00145	T	0.077263	0.72728	D	0.152	0.39956	.	.	0.747323469624	0.74504	0.6557552196420782	0.65511	0.0036760046655	0.00316	0.349411666393	0.17835	T	0.490062	0.81502	T	-0.461918	0.00956	T	-0.434509	0.29423	T	0.0694968769853934	0.08580	T	0.465653	0.13651	T	0.44510096	0.63730	0.2611371	0.51887	0.44510096	0.63730	0.2611371	0.51886	-6.875	0.53114	T	.	.	0.269	0.50306	B	.	.	1.191773	0.15830	12.13	0.94053190833927425	0.24183	0.04018	0.09450	N	AEFBI	0.056840	0.10539	N	-0.545693039121945	0.20618	1.088279	-0.739930919868381	0.15970	0.8425658	0.00271298208751002	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	-1.23	0.08977	0.250000	0.18007	-0.238000	0.10617	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4815:0.0:0.5185	8.535	0.32521	754	0.51307	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1081.98	33	chr14	24507429	.	C	G	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-2.210e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/1:85,56:141:99:1096,0,1825	20	0	1	0
chr14	29927493	29927493	A	G	exonic	PRKD1	.	nonsynonymous SNV	PRKD1:NM_001330069:exon1:c.T20C:p.L7P	Congenital heart defects and ectodermal dysplasia, Autosomal dominant	.	401	1119	2	0	0	2	0.000892857	.	.	714101	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.072	B	0.018	B	0.397	U	0.998	D	0.69	N	-0.27	T	-0.974	T	0.154	T	0.326	3.882	19.73	1.5	0.162	2.888	7.499	0.083	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0004334	67	154602	rs572057574	0.0088	0.0068	0.0090	0.0087	0.0098	0.0087	0.0086	0.0096	0.0096	0.0013	0.0072	0.0011	0	0.0018	0.0014	0.0098	0.0071	0.0009	0.0057	0.0057	0.0062	0.0052	0.0095	0.0054	0.0053	0.0089	0.0086	0.0016	0	0.0083	0.0015	0	0.0007	0	0.0095	0.0058	0	0.008	0.59928	D	0.101	0.38596	T	0.072	0.23997	B	0.018	0.18489	B	0.396750	0.13180	U	0.495864	0.998481	0.44980	D	0.205	0.09354	N	-0.27	0.67367	T	-0.34	0.12661	N	0.254	0.33578	-0.9736	0.36431	T	0.154	0.48395	T	10	0.005440235	0.00120	T	.	.	.	0.083	0.24192	.	.	0.73311368528	0.73073	0.5186790449170657	0.51790	0.56031135281	0.52562	0.905458211899	0.97023	D	0.21377	0.57518	T	-0.384045	0.02937	T	-0.314043	0.43222	T	0.134112943779498	0.15756	T	0.516748	0.16663	T	0.22486922	0.45137	0.36244598	0.61650	0.22486922	0.45137	0.36244598	0.61650	-1.974	0.03084	T	.	.	0.095	0.20663	B	.;.;.	.;.;.	2.969381	0.39573	21.0	0.96856753053056177	0.31365	0.47947	0.28097	N	AEFDBHCIJ	0.147009	0.27058	N	-0.489292202021359	0.22431	1.197694	-0.424094961264549	0.24292	1.329446	0.999968933408618	0.48965	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	2.71	1.5	0.22029	1.342000	0.33524	3.468000	0.38561	0.485000	0.22221	0.057000	0.21666	1.000000	0.68203	0.958000	0.51230	0.807:0.0:0.0:0.193	7.499	0.26678	932	0.16191	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	891.15	29	chr14	29927493	.	A	G	891.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=546;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0328;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.089e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/1:46,41:87:99:905,0,1015	20	0	1	0
chr14	39180577	39180577	A	G	exonic	PNN	.	nonsynonymous SNV	PNN:NM_002687:exon9:c.A868G:p.M290V,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.001	B	0.001	B	0.000	N	1.000	D	1.43	L	1.56	T	-1.105	T	0.033	T	0.236	0.408	6.217	4.82	1.074	0.378	10.479	0.081	.	0.0002	0.00599042	0.0014	0.0008	0.0003	0.0177	0	0.0001	0	0	0.0013907	215	154602	rs142700275	0.0004	0.0004	0.0004	0.0004	0.0091	0.0004	0.0004	0.0083	0.0080	0.0006	0.0002	0.0010	0.0091	0	0.0002	0.0001	0.0006	8.12e-05	0.0011	0.0011	0.0011	0.0010	0.0181	0.0009	0.0009	0.0152	0.0141	0.0010	0	0.0010	0.0014	0.0181	0	0	8.82e-05	0	0	0.211	0.19569	T	0.495	0.11371	T	0.001	0.07471	B	0.001	0.04355	B	0.000215	0.47681	N	0.284712	0.87894	0.28082	N	1.295	0.32453	L	1.56	0.29602	T	-0.66	0.19085	N	0.088	0.06587	-1.1052	0.03517	T	0.033	0.14160	T	10	0.0067246556	0.00153	T	.	.	.	0.081	0.23632	.	.	0.282179105231	0.27821	0.31383347508777176	0.31296	0.0769748553419	0.08643	0.486395388842	0.36939	T	0.186395	0.53968	T	-0.554821	0.00273	T	-0.554802	0.16867	T	0.0111974259272471	0.00164	T	0.766923	0.39491	T	0.10452359	0.24711	0.14277308	0.33955	0.10452359	0.24711	0.14277308	0.33954	-2.361	0.04900	T	.	.	0.06	0.00934	B	.	.	1.922993	0.24423	16.39	0.9406844084491679	0.24209	0.94228	0.60504	D	AEFDBHCI	0.252500	0.37217	N	-0.241266926687858	0.31454	1.763822	-0.0640812625810818	0.36887	2.152507	0.999999966395041	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.97	4.82	0.61641	0.471000	0.21811	5.313000	0.48269	0.756000	0.94297	0.940000	0.32642	1.000000	0.68203	1.000000	0.97212	0.8658:0.0:0.1342:0.0	10.479	0.43867	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1380.98	38	chr14	39180577	.	A	G	1380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-03;DP=817;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.630;SOR=0.824	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1395,0,1390	20	0	1	0
chr14	45224519	45224519	T	-	exonic	MIS18BP1	.	frameshift deletion	MIS18BP1:NM_018353:exon11:c.2068delA:p.S690Vfs*10,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	.	0.0040	0.0024	0.0008	0.0032	0	0.0054	0.0034	0.0034	0.0036869	570	154602	rs758089467	9.752e-05	0.0026	9.356e-05	0.0001	0.0008	8.401e-05	7.936e-05	0.0006	0.0005	0.0002	0.0008	0.0002	7.624e-05	0.0001	0	5.079e-05	6.697e-05	0.0003	1.981e-05	8.545e-05	2.581e-05	1.352e-05	4.837e-05	5.27e-06	2.46e-06	8.02e-06	3e-06	4.837e-05	0	0	0	0	9.593e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.94	34	chr14	45224518	.	CT	C	52.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.798e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=2.00;SOR=0.656	GT:AD:DP:GQ:PL	0/1:104,14:118:67:67,0,2635	20	0	1	0
chr14	49607898	49607898	T	A	exonic	LRR1	.	nonsynonymous SNV	LRR1:NM_152329:exon3:c.T781A:p.L261M,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	3.15	M	1.65	T	-0.730	T	0.214	T	0.693	3.095	16.34	3.54	0.469	0.588	9.006	0.333	0.0305055834414	.	.	4.133e-05	0	0	0	0	3.003e-05	0	0.0002	3.23e-05	5	154602	rs781311885	1.506e-05	1.505e-05	1.362e-05	1.652e-05	0.0002	9.86e-06	8.42e-06	0.0001	9.455e-05	0	0	0	0	0	0	4.499e-06	1.657e-05	0.0002	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.103	0.30097	T	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	2.825	0.82220	M	1.65	0.27650	T	-1.47	0.35991	N	0.824	0.81957	-0.7299	0.58969	T	0.214	0.57494	T	10	0.6525771	0.69688	D	0.030506	0.52803	D	0.333	0.65522	0.515	0.61459	0.401042353794	0.39719	0.5008727393091121	0.50009	0.577624100393	0.53677	0.51382625103	0.40758	T	0.086177	0.37667	T	-0.128776	0.31694	T	-0.219154	0.52818	T	0.428757756948471	0.30015	T	0.733627	0.34942	T	0.20456639	0.42571	0.16144137	0.37551	0.20456639	0.42570	0.16144137	0.37550	-7.111	0.54839	T	.	.	0.204	0.42920	B	.	.	3.230762	0.44060	21.9	0.99445408331715957	0.64971	0.95175	0.63714	D	AEFBI	0.425660	0.49033	N	0.51730566394863	0.68112	5.172719	0.424133418055681	0.63073	4.53393	0.999023279786998	0.38237	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	3.54	0.39650	0.596000	0.23744	0.939000	0.22838	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0:0.3729:0.0:0.6271	9.006	0.35273	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1988.98	35	chr14	49607898	.	T	A	1988.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=836;ExcessHet=0.0000;FS=4.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=-1.468e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/1:48,74:122:99:2003,0,1062	20	0	1	0
chr14	49633744	49633744	C	T	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.G1406A:p.C469Y	Ciliary dyskinesia, primary, 10	.	0	1439	78	5	0	88	0.0296696	.	.	222368	not_specified|Primary_ciliary_dyskinesia_10|Primary_ciliary_dyskinesia	MedGen:CN169374|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-0.55	N	2.6	T	-0.960	T	0.008	T	0.08	0.774	8.086	0.702	0.012	0.553	1.895	0.050	.	0.0048	0.0071885	0.0090	0.0012	0.0022	0	0.0111	0.0074	0.0079	0.0313	0.007225	1117	154602	rs150737854	0.0063	0.0063	0.0056	0.0070	0.0260	0.0062	0.0061	0.0251	0.0247	0.0005	0.0021	0.0098	5.063e-05	0.0077	0.0122	0.0052	0.0065	0.0260	0.0049	0.0049	0.0046	0.0053	0.0296	0.0046	0.0045	0.0257	0.0242	0.0008	0	0.0017	0.0107	0	0.0108	0.0204	0.0056	0.0061	0.0296	0.668	0.06606	T	0.086	0.41405	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.35	0.16217	T	-1.81	0.43149	N	0.097	0.09490	-0.9595	0.39274	T	0.008	0.02926	T	9	0.0032324195	0.00055	T	.	.	.	0.050	0.13987	.	.	0.0920862733494	0.08535	0.35599943241304355	0.35513	0.864262301777	0.69126	0.400492340326	0.25137	T	0.002222	0.01623	T	-0.708825	0.00032	T	-0.771358	0.02724	T	0.00361660849296668	0.00038	T	0.40306	0.12390	T	0.052102983	0.09669	0.13561133	0.32465	0.06224304	0.12978	0.13561133	0.32464	-5.743	0.44688	T	.	.	0.085	0.17827	B	.;.	.;.	0.204867	0.05893	2.332	0.78549104697280792	0.12349	0.02355	0.06716	N	AEFDGBHCI	0.100536	0.20212	N	-1.6742740473712	0.00937	0.04058094	-1.6234713818447	0.01518	0.06877383	0.99999999999542	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.77	0.702	0.17269	0.309000	0.19094	-0.505000	0.08779	-1.252000	0.01301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2261:0.4659:0.1879:0.1201	1.895	0.03058	835	0.38313	PIH1 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	1	0	0	0	0.02381	943.98	35	chr14	49633744	.	C	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.510;SOR=0.622	GT:AD:DP:GQ:PL	0/1:52,42:94:99:958,0,1181	20	0	1	0
chr14	50635274	50635274	T	C	exonic	SAV1	.	nonsynonymous SNV	SAV1:NM_021818:exon5:c.A1061G:p.Y354C,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.165	M	0.03	T	-0.249	T	0.396	T	0.951	3.137	16.49	4.63	1.015	7.982	11.009	0.597	0.163569778594	.	.	.	.	.	.	.	.	.	.	.	.	.	rs183580977	6.157e-06	6.156e-06	6.806e-06	5.5e-06	1.159e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.344e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	-0.04	0.63240	T	-8.23	0.96869	D	0.901	0.90138	-0.2490	0.76387	T	0.396	0.74894	T	10	0.8079663	0.80113	D	0.16357	0.84288	D	0.597	0.84019	0.602	0.73346	0.621259842134	0.61818	0.8391051411044915	0.83870	1.05013647246	0.76117	0.836032629013	0.87488	D	0.242277	0.94178	T	0.295435	0.82599	D	0.283449	0.87308	D	0.997708439826965	0.92212	D	0.970603	0.89432	D	0.9449438	0.95751	0.7593293	0.85780	0.9449438	0.95752	0.7593293	0.85781	-10.499	0.76842	D	.	.	0.970	0.91385	P	.;.	.;.	5.031576	0.83695	28.1	0.9969016520633438	0.79909	0.98343	0.81823	D	AEFDBIJ	0.935399	0.93019	D	0.479690613540591	0.65907	4.881699	0.431356718039966	0.63529	4.588376	0.666526977312295	0.22328	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	4.63	0.57175	7.958000	0.87417	7.842000	0.70572	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0728:0.0:0.9272	11.009	0.46868	388	0.83355	SARAH domain;SARAH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	33	chr14	50635274	.	T	C	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.445e+00;DP=841;ExcessHet=0.0000;FS=2.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-3.540e-01;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,80:153:99:1670,0,1584	20	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:61,20:81:45:45,0,1301	0	0	21	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,87,0:87:99:3753,263,0,3753,263,3753	0	19	0	0
chr14	73537506	73537506	G	A	exonic	ACOT1	.	nonsynonymous SNV	ACOT1:NM_001037161:exon1:c.G85A:p.E29K,	.	.	648	868	4	2	0	8	0.00458716	.	.	3226475	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.89	T	0.026	B	0.026	B	0.898	N	1.000	N	1.79	L	-0.43	T	-0.939	T	0.210	T	0.153	-0.531	1.583	0.386	0.178	-0.072	10.151	0.106	.	.	0.00159744	0.0051	0	0.0021	0	0	0.0112	0.0161	0.0002	0.0023027	356	154602	rs199573594	0.0096	0.0083	0.0100	0.0092	0.0112	0.0094	0.0094	0.0110	0.0110	0.0011	0.0062	0.0005	0.0002	0.0011	0.0100	0.0112	0.0099	0.0005	0.0049	0.0049	0.0058	0.0039	0.0089	0.0046	0.0044	0.0082	0.0079	0.0011	0.0049	0.0042	0.0004	0	0.0009	0	0.0089	0.0074	0	0.801	0.03109	T	0.876	0.03259	T	0.026	0.19406	B	0.026	0.20792	B	0.897836	0.07336	N	1.051240	1	0.18612	N	1.7	0.43825	L	-0.43	0.69657	T	-1.8	0.42384	N	0.1	0.18920	-0.9394	0.42711	T	0.210	0.56959	T	10	0.009623647	0.00217	T	.	.	.	0.106	0.30130	.	.	0.630694134536	0.62767	0.40214598987614136	0.40130	.	.	.	.	.	0.016078	0.13357	T	-0.463165	0.00939	T	-0.462708	0.26305	T	0.00552911268839982	0.00060	T	0.706729	0.31713	T	0.14606303	0.33453	0.107366465	0.25846	0.104068615	0.24600	0.107366465	0.25846	-6.493	0.50232	T	.	.	0.112	0.26607	B	.;.	.;.	1.638830	0.20919	14.97	0.95307806750916324	0.26636	0.08050	0.14025	N	AEFDGBHCI	0.100197	0.20152	N	-0.941287422301615	0.09890	0.4700974	-0.949700321708785	0.10929	0.5536961	0.999999713235436	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.694767	0.63188	0	0.581474	0.35302	0	.	.	3.65	0.386	0.15477	-0.150000	0.10174	0.928000	0.22757	0.479000	0.22080	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0893:0.5348:0.3759:0.0	10.151	0.41969	260	0.89800	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase;Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase	.	.	.	.	.	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	0.05263	6664.56	34	chr14	73537506	.	G	A	6664.56	.	AC=2;AF=0.053;AN=38;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.053;MQ=51.29;QD=30.43;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,219:219:99:6691,657,0	18	1	0	2
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,44,0:52:99:.:.:1773,0,204,1902,400,2858	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,44,2:52:99:.:.:1773,0,204,1813,272,3491	6	6	8	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:45,21:66:99:110,0,704	9	0	10	2
chr14	91313430	91313430	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon15:c.C2386T:p.R796C,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1896057	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.966	D	0.462	P	0.219	U	1.000	D	0.69	N	2.45	T	-1.117	T	0.035	T	0.15	3.296	17.07	3.19	0.500	1.504	12.248	0.084	0.0201088312853	0.0002	0.00119808	0.0004	0.0003	0	0.0002	0	1.592e-05	0	0.0026	0.0003493	54	154602	rs372425024	0.0002	0.0002	7.662e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0.0001	0	3.83e-05	0.0002	2.116e-05	0.0002	4.498e-06	6.632e-05	0.0024	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0015	0.0002	0	6.538e-05	0	0.0002	0	0	1.47e-05	0	0.0031	0.004	0.65419	D	0.031	0.53788	D	0.966	0.56202	D	0.462	0.46509	P	0.218724	0.16189	U	0.479009	0.841894	0.35080	D	1.245	0.31408	L	2.45	0.15028	T	-3.2	0.64710	D	0.329	0.36989	-1.1170	0.02531	T	0.035	0.15074	T	10	0.009217441	0.00208	T	0.020109	0.42635	T	0.084	0.24469	.	.	0.544694838355	0.54123	0.13105521680799925	0.13030	0.373316049332	0.38799	0.361972868443	0.19674	T	0.159548	0.50303	T	-0.548198	0.00299	T	-0.566082	0.15810	T	0.120197781471755	0.14450	T	0.917308	0.70348	D	0.13160464	0.30671	0.12832913	0.30877	0.13160464	0.30671	0.12832913	0.30876	-7.519	0.57744	D	.	.	0.095	0.14842	B	.	.	3.581599	0.50496	23.0	0.99895589365529125	0.96895	0.90465	0.51663	D	AEFBI	0.395893	0.47258	N	0.0576891050861872	0.44496	2.722669	0.0805587703379823	0.43573	2.656169	0.980140119628749	0.30103	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.29	3.19	0.35720	1.516000	0.35463	1.262000	0.25237	0.575000	0.29119	0.984000	0.35821	0.836000	0.27257	0.746000	0.35646	0.0:0.0:0.487:0.513	12.248	0.53898	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	895.98	33	chr14	91313430	.	G	A	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.075;DP=858;ExcessHet=0.0000;FS=6.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=0.106;SOR=0.677	GT:AD:DP:GQ:PL	0/1:55,42:97:99:910,0,1281	20	0	1	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:65,0,0,0,0,17,0:102:99:.:.:1715,1731,4278,1731,4278,4278,1731,4278,4278,4278,1731,4278,4278,4278,4278,0,2596,2596,2596,2596,2419,1731,4278,4278,4278,4278,2596,4278	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,44:152:99:.:.:200,0,1754	0	0	21	0
chr14	96264409	96264409	C	T	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.C727T:p.R243C,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.981	D	0.806	P	0.395	U	1.000	N	1.845	L	0.97	T	-0.990	T	0.090	T	0.12	1.336	10.39	-0.811	-0.040	0.288	4.023	0.069	.	0.0031	0.00299521	0.0008	0.0091	0.0003	0.0002	0	1.499e-05	0	6.056e-05	0.0007762	120	154602	rs113666900	0.0003	0.0003	0.0003	0.0002	0.0095	0.0003	0.0003	0.0087	0.0083	0.0095	0.0006	0	0.0004	0	0.0002	6.295e-06	0.0009	0.0001	0.0022	0.0022	0.0022	0.0022	0.0074	0.0020	0.0019	0.0067	0.0064	0.0074	0	0.0010	0	0	0	0	2.94e-05	0.0033	0	0.103	0.30097	T	0.189	0.28575	T	0.981	0.59675	D	0.806	0.58437	P	0.394511	0.04497	U	1.530460	1	0.08975	N	2.33	0.66821	M	0.97	0.42502	T	-0.86	0.23372	N	0.116	0.10483	-0.9896	0.32702	T	0.090	0.34573	T	10	0.004810989	0.00102	T	.	.	.	0.069	0.20116	.	.	0.478755181577	0.47503	0.34933940209969166	0.34847	0.252138644839	0.27782	0.26308169961	0.05262	T	0.248824	0.61868	T	-0.608572	0.00129	T	-0.639841	0.09680	T	0.022645550104574	0.00981	T	0.538946	0.18179	T	0.07321025	0.16342	0.04784402	0.06980	0.07321025	0.16342	0.04784402	0.06980	-5.969	0.46019	T	.	.	0.171	0.37596	B	.;.	.;.	1.551294	0.19880	14.48	0.99084205341349818	0.52051	0.15708	0.19043	N	AEFGBCI	.	.	.	-0.636901861134691	0.17844	0.921654	-0.858825256146252	0.13076	0.6763231	0.999908001424146	0.45458	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.04	-0.811	0.10310	0.770000	0.26280	-0.707000	0.07768	-1.640000	0.00841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1191:0.5641:0.1046:0.2122	4.023	0.09159	976	0.04745	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	0	0	0	1	0	0	0	0.02381	948.98	38	chr14	96264409	.	C	T	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=985;ExcessHet=0.0000;FS=4.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=-4.020e-01;SOR=1.218	GT:AD:DP:GQ:PL	0/1:53,37:90:99:963,0,1204	20	0	1	0
chr14	104886737	104886737	G	A	exonic	CEP170B	.	nonsynonymous SNV	CEP170B:NM_015005:exon11:c.G2288A:p.R763Q	.	.	415	1105	2	0	0	2	0.000904159	.	.	3296670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.529	P	0.032	B	0.816	N	1.000	N	1.265	L	1.86	T	-1.028	T	0.038	T	0.041	0.618	7.325	-0.24	0.004	0.263	5.571	0.028	0.025208723885	0.0002	0.000399361	0.0007	0.0003	8.758e-05	0	0.0008	0.0007	0.0012	0.0016	0.0005692	88	154602	rs200431109	0.0006	0.0006	0.0006	0.0006	0.0015	0.0006	0.0005	0.0013	0.0012	0.0003	0.0002	0	0	0.0008	0.0002	0.0006	0.0004	0.0015	0.0004	0.0004	0.0005	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0003	0	0	0.0011	0	0.0005	0	0.0006	0.063	0.45393	T	0.3	0.24694	T	0.529	0.37682	P	0.032	0.22131	B	0.815892	0.06855	N	1.089080	1	0.08975	N	1.5	0.37844	L	1.86	0.24285	T	-1.75	0.41428	N	0.177	0.19055	-1.0279	0.21136	T	0.038	0.16419	T	10	0.016482383	0.00348	T	0.025209	0.48187	D	0.028	0.06331	.	.	0.138757226776	0.13463	0.4080324598705859	0.40719	0.226315904183	0.25184	0.440001904964	0.30577	T	0.021524	0.16743	T	-0.638431	0.00085	T	-0.730372	0.04311	T	0.00732170579154679	0.00084	T	0.693131	0.30283	T	.	.	.	.	.	.	.	.	-3.671	0.18891	T	.	.	0.073	0.05231	B	.;.;.	.;.;.	1.003193	0.13816	10.37	0.98434569306308251	0.41442	0.14216	0.18285	N	AEFDBI	0.062110	0.11917	N	-0.818104872728579	0.12848	0.6289607	-0.881375509242024	0.12535	0.6453795	0.213287040740641	0.18266	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.5	-0.24	0.12403	0.014000	0.13228	0.511000	0.19080	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3576:0.1534:0.4889:0.0	5.571	0.16482	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1341.98	39	chr14	104886737	.	G	A	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=857;ExcessHet=0.0000;FS=2.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.474;SOR=1.030	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1356,0,912	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,54,0:151:99:0|1:104946204_C_T:1914,0,3890,2206,4053,6259:104946204	1	7	12	0
chr14	104950335	104950335	G	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4816A:p.L1606I	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.855	P	0.804	P	.	.	1.000	N	1.7	L	4.64	T	-1.052	T	0.011	T	0.105	2.141	13.11	-4.7	-1.024	-5.204	5.962	0.059	0.00327716983238	0.0011	0.00119808	0.0006	0.0021	0.0007	0.0024	0.0002	0.0003	0.0023	0.0003	0.0005757	89	154602	rs184622740	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	0.0016	0.0004	0	0.0018	0.0001	0.0005	0.0002	0.0005	0.0005	0.0009	0.0010	0.0008	0.0009	0.0043	0.0007	0.0007	0.0029	0.0024	0.0019	0	0.0003	0	0.0043	0.0002	0	0.0003	0.0015	0.0004	0.309	0.14064	T	0.32	0.19131	T	0.855	0.47121	P	0.804	0.58350	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.64	0.01799	T	0.68	0.02228	N	0.11	0.09631	-1.0523	0.13763	T	0.011	0.03903	T	9	0.0070287883	0.00160	T	0.003277	0.07268	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.0015801848915612286	0.00146	.	.	0.205192834139	0.00623	T	0.02176	0.16890	T	-0.646939	0.00076	T	-0.707607	0.05420	T	0.025258632386768	0.01307	T	0.462854	0.13445	T	0.054099653	0.10333	0.037322722	0.03361	0.054099653	0.10333	0.037322722	0.03361	-8.388	0.63686	D	.	.	0.067	0.02458	B	.	.	0.181943	0.05692	2.140	0.97699678831370107	0.35430	0.01399	0.04744	N	AEFBI	.	.	.	-0.830902448808071	0.12525	0.611064	-1.11279352235807	0.07455	0.3626933	0.00107900956696758	0.08194	0.67177	0.52595	0	0.573888	0.26702	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	3.97	-4.7	0.03051	-2.242000	0.01278	0.000000	0.13247	0.617000	0.49538	0.000000	0.06391	0.007000	0.19602	0.006000	0.07323	0.0841:0.5059:0.2797:0.1303	5.962	0.18541	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3758.98	367	chr14	104950335	.	G	T	3758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=6875;ExcessHet=0.0000;FS=2.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.00;QD=16.06;ReadPosRankSum=-4.680e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,101:234:99:0|1:104950312_G_A:3773,0,5279:104950312	20	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:256,52,55:363:99:.:.:1236,0,9888,921,5811,8640	10	0	7	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,59,52:240:99:.:.:2044,0,4499,564,2736,9167	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,110,0:213:99:0|1:20534635_TCC_*:3800,0,3964,4543,4466,10856:20534635	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:155,0,66:222:99:0|1:20534610_CTTCTCCTCCTGCTCCCGTAT_C:1962,2544,10034,0,6451,6015:20534610	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,66,0:222:99:0|1:20534610_CTTCTCCTCCTGCTCCCGTAT_C:1962,0,6015,2544,6451,10034:20534610	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,66,0:222:99:0|1:20534610_CTTCTCCTCCTGCTCCCGTAT_C:1962,0,6015,2544,6451,10034:20534610	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:155,0,66:222:99:0|1:20534610_CTTCTCCTCCTGCTCCCGTAT_C:1962,2544,10034,0,6451,6015:20534610	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:155,0,66:222:99:0|1:20534610_CTTCTCCTCCTGCTCCCGTAT_C:1962,2544,10034,0,6451,6015:20534610	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,66,0:222:99:0|1:20534610_CTTCTCCTCCTGCTCCCGTAT_C:1962,0,6015,2544,6451,10034:20534610	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,66,0:222:99:0|1:20534610_CTTCTCCTCCTGCTCCCGTAT_C:1962,0,6015,2544,6451,10034:20534610	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,60,0:218:99:0|1:20534635_TCC_*:1937,0,5978,2417,6180,8692:20534635	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:151,0,60:218:99:0|1:20534635_TCC_*:1937,2417,8692,0,6180,5978:20534635	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,60,0:218:99:0|1:20534635_TCC_*:1937,0,5978,2417,6180,8692:20534635	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:151,0,60:218:99:0|1:20534635_TCC_*:1937,2417,8692,0,6180,5978:20534635	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:151,0,60:218:99:0|1:20534635_TCC_*:1937,2417,8692,0,6180,5978:20534635	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:151,0,60:218:99:0|1:20534635_TCC_*:1937,2417,8692,0,6180,5978:20534635	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,60,0:218:99:0|1:20534635_TCC_*:1937,0,5978,2417,6180,8692:20534635	5	0	10	2
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:73,37,59:169:91:.:.:1285,91,3770,0,423,1576	0	0	2	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/2:0,47,41:88:99:2802,1018,869,1381,0,1133	0	10	0	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.974	D	0.014	N	0.997	N	.	.	0.86	T	-0.312	T	0.279	T	0.74	2.736	15.11	5.96	2.285	2.823	11.519	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2973.31	80	chr15	33066576	.	A	G	2973.31	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.410e-01;DP=1903;ExcessHet=3.5521;FS=152.585;InbreedingCoeff=-0.4238;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=3.75;ReadPosRankSum=0.714;SOR=10.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,21:72:99:0|1:33066574_C_T:401,0,1885:33066574	4	0	8	9
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.986	D	0.799	P	0.001	D	.	.	.	.	0.34	T	-0.655	T	0.195	T	0.183	2.701	14.99	3.06	0.846	0.241	5.341	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	3066.26	80	chr15	33066577	.	C	G	3066.26	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-6.420e-01;DP=1917;ExcessHet=4.7172;FS=160.684;InbreedingCoeff=-0.4737;MLEAC=12;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.55;ReadPosRankSum=0.903;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,21:74:99:0|1:33066574_C_T:395,0,1969:33066574	3	0	9	9
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	.	.	.	.	-0.38	T	0.078	D	0.453	T	0.277	2.615	14.70	4.1	0.875	-0.168	10.418	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	945.24	59	chr15	33066580	.	C	G	945.24	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-2.314e+00;DP=1836;ExcessHet=0.6776;FS=128.085;InbreedingCoeff=-0.2756;MLEAC=6;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.546;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,21:76:99:0|1:33066574_C_T:389,0,1987:33066574	8	0	4	9
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.803	P	0.000	D	1.000	N	.	.	1.03	T	-0.682	T	0.170	T	0.554	2.292	13.62	4.1	0.872	0.096	10.665	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1538	573.81	76	chr15	33066583	.	C	G,T	573.81	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-1.984e+00;DP=1824;ExcessHet=0.6776;FS=218.128;InbreedingCoeff=-0.2205;MLEAC=2,3;MLEAF=0.077,0.115;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=0.751;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:53,8,13:74:83:.:.:242,83,2253,0,1830,1927	9	0	2	8
chr15	34386683	34386683	G	C	exonic	GOLGA8A	.	nonsynonymous SNV	GOLGA8A:NM_181077:exon3:c.C227G:p.A76G	.	.	433	1071	18	0	0	18	0.00833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.82	P	0.547	P	.	.	1.000	D	0.895	L	-1.6	D	-0.559	T	0.385	T	0.239	0.368	5.995	-0.758	-0.707	0.636	.	0.284	0.0276511903843	0.0025	0.00119808	0.0050	0.0002	0.0061	0	0.0005	0.0073	0.0083	0.0014	0.0033182	513	154602	rs147015251	0.0031	0.0031	0.0031	0.0031	0.0043	0.0030	0.0030	0.0034	0.0034	0.0005	0.0035	0.0015	0	0.0010	0.0043	0.0035	0.0035	0.0008	0.0023	0.0023	0.0026	0.0021	0.0036	0.0021	0.0020	0.0033	0.0031	0.0004	0	0.0036	0.0009	0	0.0004	0	0.0036	0.0042	0.0007	0.191	0.21066	T	0.001	0.83351	D	0.82	0.45712	P	0.547	0.49095	P	.	.	.	.	0.84846	0.81001	D	0.975	0.24501	L	-1.6	0.82165	D	-2.02	0.46503	N	0.187	0.20395	-0.5592	0.66434	T	0.385	0.74061	T	8	0.0067261457	0.00153	T	0.027651	0.50434	D	0.284	0.60219	.	.	0.0675242888579	0.06100	0.055086836975987694	0.05449	.	.	0.517082571983	0.41215	T	0.044783	0.26921	T	-0.0511765	0.44268	T	-0.311288	0.43520	T	0.0369417013381279	0.03145	T	0.731927	0.34732	T	0.0720071	0.15984	0.10224714	0.24501	0.0720071	0.15984	0.10224714	0.24501	-3.751	0.29174	T	.	.	0.152	0.34449	B	.;.	.;.	1.141957	0.15295	11.74	0.73675039743892579	0.10414	0.12394	0.17242	N	AEFGI	0.083212	0.16856	N	-0.878016777294063	0.11367	0.5481656	-1.07448622400461	0.08204	0.4023935	7.44786149421456E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	0.379	-0.758	0.10492	0.788000	0.26533	1.777000	0.28684	-0.865000	0.02600	1.000000	0.71638	0.187000	0.23467	0.001000	0.02609	.	.	.	679	0.60090	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	166.98	34	chr15	34386683	.	G	C	166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.670;DP=761;ExcessHet=0.0000;FS=3.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.55;MQRankSum=-2.021e+00;QD=3.48;ReadPosRankSum=0.405;SOR=1.392	GT:AD:DP:GQ:PL	0/1:37,11:48:99:181,0,910	20	0	1	0
chr15	40282013	40282013	C	A	exonic	ANKRD63	.	nonsynonymous SNV	ANKRD63:NM_001190479:exon1:c.G574T:p.D192Y,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	.	.	1.000	D	0.345	N	0.92	T	-1.033	T	0.072	T	0.65	1.990	12.61	3.32	1.681	1.892	9.993	0.145	0.402360561025	.	0.00199681	.	.	.	.	.	.	.	.	0.00146	38	26028	rs572210203	0.0043	0.0034	0.0042	0.0044	0.0056	0.0042	0.0041	0.0048	0.0045	0.0006	0.0015	0.0016	0	0.0114	0.0011	0.0044	0.0026	0.0056	0.0037	0.0037	0.0032	0.0042	0.0044	0.0034	0.0033	0.0039	0.0038	0.0009	0	0.0034	0.0012	0.0002	0.0141	0	0.0044	0.0014	0.0037	0.001	0.78490	D	0.449	0.12993	T	.	.	.	.	.	.	.	.	.	.	0.909791	0.36381	D	0	0.06538	N	0.92	0.44461	T	-0.38	0.13418	N	0.42	0.45992	-1.0333	0.19395	T	0.072	0.29227	T	7	0.0075303614	0.00171	T	0.402361	0.93425	D	0.145	0.38592	.	.	.	.	0.5309691836472932	0.53020	.	.	0.954644918442	0.99839	D	0.015308	0.12863	T	-0.326588	0.06374	T	-0.242042	0.50600	T	0.287603742991469	0.24489	T	0.559044	0.19511	T	0.1921481	0.40872	0.41043988	0.65304	0.1921481	0.40872	0.41043988	0.65304	-6.39	0.49432	T	.	.	0.308	0.53610	B	.	.	3.793136	0.54605	23.5	0.97779828318649908	0.35925	0.88353	0.48242	D	AEFDBCI	0.251277	0.37117	N	-0.137613655691965	0.35763	2.058375	-0.0937219625594848	0.35649	2.064984	0.999998760555972	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.32	3.32	0.37134	3.556000	0.53480	5.474000	0.48705	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.0:1.0:0.0:0.0	9.993	0.41057	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	889.98	23	chr15	40282013	.	C	A	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.039;DP=520;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=3.000e-03;SOR=0.712	GT:AD:DP:GQ:PL	0/1:71,44:115:99:904,0,1629	20	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	5832.96	33	chr15	40356171	.	T	C,*	5832.96	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.782;DP=1060;ExcessHet=0.7503;FS=26.034;InbreedingCoeff=0.0319;MLEAC=8,3;MLEAF=0.267,0.100;MQ=59.86;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-8.330e-01;SOR=1.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,42,0:81:99:0|1:40356171_T_C:1434,0,1491,1551,1617,3168:40356171	8	1	4	6
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4456.62	33	chr15	40356195	.	T	C,*	4456.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=-1.037e+00;DP=1008;ExcessHet=0.5418;FS=9.495;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.85;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.283e+00;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,37,0:78:99:0|1:40356171_T_C:1066,0,1606,1189,1701,2891:40356171	8	1	4	6
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4344.62	33	chr15	40356196	.	G	C,*	4344.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.941;DP=999;ExcessHet=0.5418;FS=8.160;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.84;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.374e+00;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,37,0:77:99:0|1:40356171_T_C:1069,0,1584,1189,1680,2869:40356171	8	1	4	6
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	4345.87	33	chr15	40356197	.	G	A,*	4345.87	.	AC=6,2;AF=0.176,0.059;AN=34;BaseQRankSum=0.00;DP=1001;ExcessHet=0.5418;FS=8.243;InbreedingCoeff=-0.0558;MLEAC=7,2;MLEAF=0.206,0.059;MQ=59.84;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.551e+00;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,37,0:77:99:0|1:40356171_T_C:1069,0,1584,1189,1680,2869:40356171	10	1	4	4
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,66,0:113:99:.:.:1444,0,1053,1585,1235,2820	9	2	9	0
chr15	42746183	42746183	T	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon15:c.A3347C:p.Q1116P,	Spinocerebellar ataxia 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.806	P	0.000	D	1.000	D	0.55	N	1.01	T	-0.887	T	0.130	T	0.678	3.980	20.4	5.13	2.156	5.330	15.111	0.195	0.035873130348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.319	0.23776	T	0.996	0.68779	D	0.806	0.58437	P	0.000002	0.62929	D	0.059816	0.999949	0.51968	D	1.78	0.46185	L	1.01	0.41058	T	-0.91	0.24460	N	0.725	0.72656	-0.8869	0.49198	T	0.130	0.43968	T	10	0.28069976	0.45646	T	0.035873	0.56631	D	0.195	0.47612	0.173	0.07894	0.128874641272	0.12493	0.4226094165837903	0.42177	0.913198446343	0.71136	0.711121976376	0.68755	T	0.107967	0.42061	T	0.0327064	0.56084	T	-0.190796	0.55515	T	0.903732359409332	0.55702	D	0.849515	0.53247	T	0.41250783	0.61589	0.39406314	0.64109	0.41250783	0.61590	0.39406314	0.64109	-3.093	0.11216	T	.	.	0.487	0.69182	A	.;.	.;.	4.417543	0.68392	25.2	0.99435211211867525	0.64472	0.94850	0.62546	D	AEFBI	0.787298	0.71712	D	0.478401239212423	0.65830	4.872159	0.524168255278128	0.69622	5.386518	0.9999864681754	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	5.646000	0.67590	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.111	0.72032	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1141.98	34	chr15	42746183	.	T	G	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e+00;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=2.95;SOR=0.692	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1156,0,1507	20	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:54,31:85:67:67,0,873	4	0	13	4
chr15	52757757	52757757	G	T	exonic	ONECUT1	.	nonsynonymous SNV	ONECUT1:NM_004498:exon2:c.C1196A:p.T399N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.898	P	0.983	D	0.000	D	1.000	D	2.715	M	-3.96	D	1.195	D	0.947	D	0.516	2.413	14.03	6.16	2.937	9.476	19.848	0.738	0.208087383357	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951270492	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.898	0.49442	P	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.705	0.79137	M	-3.96	0.96208	D	-4.53	0.78388	D	0.829	0.82458	1.195	0.99968	D	0.947	0.98273	D	10	0.932786	0.92614	D	0.208087	0.87127	D	0.738	0.90895	0.461	0.52916	0.986078760388	0.98593	0.9025947465761972	0.90231	1.63181678604	0.89233	0.893016397953	0.95631	D	0.967888	0.99628	D	0.429832	0.91524	D	0.379648	0.91419	D	0.933224260807037	0.59982	D	0.989801	0.96720	D	0.808886	0.84480	0.72491807	0.83753	0.808886	0.84481	0.72491807	0.83754	-9.696	0.72072	D	.	.	0.999	0.97850	P	.	.	4.565023	0.71974	25.8	0.94630844896090471	0.25218	0.99044	0.90407	D	AEFBI	0.941518	0.94490	D	0.990109827375225	0.95432	13.61422	0.984825478814731	0.98312	17.94185	0.999999999451423	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	6.16	6.16	0.99302	9.602000	0.97623	10.004000	0.83058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.848	0.96719	410	0.82135	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	36	chr15	52757757	.	G	T	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.617;SOR=0.713	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1244,0,1280	20	0	1	0
chr15	58771970	58771970	A	G	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon1:c.A575G:p.N192S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.458	P	0.121	B	0.226	N	0.980	D	0.55	N	0.81	T	-1.018	T	0.047	T	0.02	1.522	11.04	-0.069	0.110	2.974	1.750	0.130	0.00546663764909	8.3e-05	.	7.332e-05	0	0.0003	0	0	6.341e-05	0	0	5.17e-05	8	154602	rs368984789	4.574e-05	4.925e-05	5.436e-05	3.695e-05	0.0001	3.677e-05	3.35e-05	5.054e-05	3.263e-05	9.302e-05	0.0001	0	0.0001	9.688e-05	0	4.022e-05	1.706e-05	3.813e-05	5.253e-05	5.25e-05	5.14e-05	5.371e-05	9.617e-05	2.556e-05	1.829e-05	3.241e-05	1.909e-05	9.617e-05	0	6.536e-05	0	0	0	0	4.411e-05	0	0	0.128	0.27194	T	0.483	0.11795	T	0.329	0.36312	B	0.057	0.32300	B	0.226274	0.16021	N	0.624920	0.979595	0.39578	D	.	.	.	0.84	0.48460	T	-0.92	0.24676	N	0.442	0.48042	-1.0181	0.24334	T	0.047	0.19998	T	10	0.06487107	0.08669	T	0.005467	0.14075	T	0.130	0.35528	.	.	0.199424873507	0.19547	0.137803877499157	0.13704	0.09024269904	0.10180	0.586895227432	0.51056	T	0.014383	0.12256	T	-0.483089	0.00710	T	-0.662401	0.08105	T	0.0364027189356911	0.03051	T	0.829717	0.49530	T	0.060628165	0.12462	0.06764972	0.14024	0.060628165	0.12461	0.06764972	0.14024	-1.546	0.01861	T	.	.	0.061	0.03231	B	.;.	.;.	2.788049	0.36639	20.3	0.83091231121808828	0.14537	0.55573	0.29898	D	AEFDGBHCI	0.371851	0.45771	N	-0.517958031383939	0.21500	1.141403	-0.428611642531477	0.24161	1.321576	0.999999777651831	0.74766	0.468429	0.09910	2	0.56911	0.20461	1	0.504199	0.09095	0	0.249971	0.05119	0	.	.	3.59	-0.0687	0.13087	2.715000	0.46879	.	.	0.665000	0.62972	1.000000	0.71638	0.995000	0.32472	0.995000	0.73285	0.555:0.1483:0.1521:0.1445	1.750	0.02791	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1042.98	33	chr15	58771970	.	A	G	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.394e+00;DP=811;ExcessHet=0.0000;FS=5.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-1.620e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1057,0,1049	20	0	1	0
chr15	63597516	63597516	G	A	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon1:c.G124A:p.V42M	.	.	435	1084	3	0	0	3	0.00138185	.	.	3442491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.04	L	-0.02	T	-0.328	T	0.348	T	0.866	3.983	20.4	5.39	2.526	9.731	19.189	0.526	0.0772033709326	7.7e-05	.	3.301e-05	0	0	0	0	6.007e-05	0	0	2.59e-05	4	154602	rs367605652	2.052e-05	2.052e-05	1.634e-05	2.475e-05	0.0005	1.456e-05	1.264e-05	0.0001	7.541e-05	2.987e-05	0.0001	0	5.038e-05	0	0.0005	1.619e-05	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	-0.02	0.62918	T	.	.	.	0.613	0.82559	-0.3281	0.74188	T	0.348	0.71249	T	10	0.56838185	0.65180	D	0.077203	0.72714	D	0.526	0.79947	.	.	0.602107291794	0.59893	0.5983892764624129	0.59769	0.745215368808	0.63480	0.589835584164	0.51470	T	0.164209	0.50958	T	0.108105	0.65154	D	0.14321	0.79751	D	0.624632000923157	0.37396	D	0.854215	0.54045	D	0.33035746	0.55501	0.3368268	0.59480	0.33035746	0.55501	0.3368268	0.59480	-9.151	0.68664	D	.	.	0.867	0.80705	P	.;.;.	.;.;.	4.792489	0.77791	26.8	0.99887189055905468	0.96204	0.96880	0.71442	D	AEFDBCIJ	0.937467	0.93530	D	0.650923674793274	0.76429	6.484809	0.636744391311684	0.77627	6.715922	1.0	0.98316	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.664235	0.64389	0	.	.	5.39	5.39	0.77615	9.864000	0.98442	7.388000	0.58495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	19.189	0.93643	627	0.65350	F-box domain;F-box domain;F-box 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	0.07143	3462.68	34	chr15	63597516	.	G	A	3462.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.47;DP=921;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.262;SOR=0.712	GT:AD:DP:GQ:PL	0/1:48,29:77:99:714,0,1088	18	0	3	0
chr15	63664532	63664532	C	T	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon43:c.G8618A:p.R2873H,	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2379316	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.987	D	0.000	D	1.000	D	1.245	L	1.31	T	-0.830	T	0.188	T	0.592	5.412	34	5.79	2.718	6.833	20.024	0.202	0.00663208622017	.	.	4.977e-05	0	0	0	0	0	0.0011	0.0003	4.53e-05	7	154602	rs765684383	3.422e-05	3.489e-05	2.179e-05	4.678e-05	0.0004	2.633e-05	2.376e-05	0.0003	0.0002	0	0	0	0	0	0	1.17e-05	6.628e-05	0.0004	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.009	0.57480	D	0.033	0.53072	D	0.999	0.77913	D	0.987	0.77487	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.31	0.35405	T	-1.58	0.38151	N	0.52	0.55019	-0.8297	0.53320	T	0.188	0.53812	T	10	0.36691743	0.53174	T	0.006632	0.17501	T	0.202	0.48754	0.298	0.26362	0.082315109003	0.07666	0.29761447399619695	0.29674	1.21465745961	0.80914	0.645125389099	0.59293	T	0.208297	0.56819	T	-0.231248	0.16483	T	-0.273756	0.47440	T	0.291430998382597	0.24649	T	0.959604	0.84807	D	0.12137458	0.28542	0.1441639	0.34235	0.12137458	0.28541	0.1441639	0.34234	-4.853	0.35202	T	.	.	0.309	0.53679	B	.	.	4.955970	0.81901	27.7	0.99938026481180797	0.99698	0.99080	0.90931	D	AEFBIJ	0.723183	0.67288	D	0.737517997346614	0.82090	7.677476	0.758891244641027	0.86819	9.013	0.999999999999907	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	6.910000	0.75564	7.700000	0.66237	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	20.024	0.97513	729	0.54495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1163.98	33	chr15	63664532	.	C	T	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.168;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-1.011e+00;SOR=0.646	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1178,0,776	20	0	1	0
chr15	63923312	63923312	C	T	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon10:c.G890A:p.R297Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0031100870877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917136596	2.53e-05	2.394e-05	3.139e-05	1.904e-05	0.0004	1.837e-05	1.626e-05	6.171e-05	2.551e-05	0	0	0	0	0.0005	0.0004	1.205e-05	6.91e-05	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.044	0.41096	D	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	0.99998	0.18612	N	.	.	.	1.1	0.39050	T	-1.42	0.34992	N	0.039	0.01577	.	.	.	.	.	.	.	0.07122028	0.10468	T	0.00311	0.06756	T	.	.	.	.	0.648148160414	0.64522	0.14700382363788703	0.14622	.	.	.	.	.	.	.	.	-0.369255	0.03631	T	-0.768186	0.02828	T	.	.	.	0.381662	0.09243	T	.	.	.	.	.	.	.	.	-3.833	0.21298	T	.	.	0.062	0.01367	B	.;.	.;.	-0.275816	0.02725	0.360	0.94838881359185334	0.25627	0.03355	0.08444	N	AEFGBI	0.132994	0.25250	N	.	.	.	.	.	.	0.999909495814905	0.45458	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.01	0.892	0.18364	-0.331000	0.07958	-8.249000	0.01002	-0.182000	0.10109	0.023000	0.19925	0.000000	0.08366	0.133000	0.19684	0.0:0.4605:0.0:0.5395	8.572	0.32737	117	0.95266	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1245.98	39	chr15	63923312	.	C	T	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.107;DP=930;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=1.06;SOR=0.727	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1260,0,869	20	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.029	B	0.033	B	0.056	N	1.000	D	0.49	N	1.3	T	-1.076	T	0.043	T	0.166	2.434	14.10	2.44	0.229	0.607	5.619	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	421.01	75	chr15	66326260	.	C	G	421.01	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.199e+00;DP=1586;ExcessHet=2.5830;FS=250.229;InbreedingCoeff=-0.2058;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.02;SOR=10.704	GT:AD:DP:GQ:PL	0/1:72,24:96:99:118,0,1339	14	0	7	0
chr15	70054601	70054601	T	C	exonic	TLE3	.	nonsynonymous SNV	TLE3:NM_001282982:exon14:c.A1453G:p.I485V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.993	D	0.997	D	0.000	D	1.000	D	1.17	L	2.81	T	-1.146	T	0.053	T	0.365	4.406	23.4	4.09	1.719	7.767	12.905	0.189	0.0311391837335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323461192	2.738e-06	2.736e-06	4.086e-06	1.376e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.028	0.46910	D	0.132	0.34716	T	0.992	0.64738	D	0.947	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.2	0.30300	L	2.81	0.10975	T	-0.89	0.25770	N	0.615	0.66101	-1.1462	0.01143	T	0.053	0.22462	T	10	0.6234511	0.68108	D	0.031139	0.53292	D	0.189	0.46613	0.68	0.81788	0.0675242888579	0.06100	0.434431064721576	0.43360	2.30277208736	0.96484	0.816132426262	0.84435	D	0.297203	0.66981	T	-0.107745	0.35141	T	-0.392545	0.34253	T	0.806735932826996	0.46817	D	0.967103	0.88824	D	0.18231168	0.39444	0.15348159	0.36065	0.18231168	0.39444	0.15348159	0.36064	-8.816	0.66830	D	.	.	0.139	0.38569	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.063706	0.84412	28.3	0.99859282785423176	0.93820	0.98879	0.88076	D	AEFDGBCI	0.937758	0.93598	D	0.483514615117778	0.66126	4.91013	0.475182317970882	0.66349	4.940624	0.999999995765682	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	7.917000	0.86906	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.905	0.57540	964	0.07719	WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	883.98	43	chr15	70054601	.	T	C	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.196e+00;DP=830;ExcessHet=0.0000;FS=1.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-3.200e-02;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,41:77:99:1|0:70054584_C_T:898,0,1315:70054584	20	0	1	0
chr15	70666926	70666926	T	G	exonic	UACA	.	nonsynonymous SNV	UACA:NM_001008224:exon16:c.A3719C:p.K1240T	.	.	471	1048	3	0	0	3	0.00142925	.	.	2332563	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.19	M	1.37	T	-0.547	T	0.262	T	0.467	3.957	20.2	5.65	2.150	3.777	15.869	0.170	0.0214618556312	0.0004	0.000199681	0.0003	0	0.0010	0	0	0.0003	0.0011	0.0003	0.0002846	44	154602	rs201992560	0.0002	0.0002	0.0002	0.0003	0.0045	0.0002	0.0002	0.0032	0.0027	0.0001	0.0009	0.0007	0	0	0.0045	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	7.215e-05	0	0.0009	0.0006	0	0	0	0.0002	0.0019	0.0006	0.007	0.61437	D	0.31	0.19972	T	1.0	0.90584	D	0.962	0.77976	D	0.000003	0.62929	D	0.000000	0.999852	0.52396	D	2.455	0.71248	M	0.87	0.46412	T	-2.94	0.66665	D	0.384	0.49146	-0.5473	0.66889	T	0.262	0.63339	T	10	0.077677935	0.12290	T	0.021462	0.44231	T	0.170	0.43303	.	.	0.657831228669	0.65496	0.276158913110639	0.27528	0.278827445462	0.30363	0.443385481834	0.31039	T	0.485916	0.81262	T	-0.309534	0.07790	T	-0.306556	0.44028	T	0.136977359652519	0.16012	T	0.90061	0.65471	D	0.38341534	0.59562	0.30277595	0.56309	0.38341534	0.59563	0.30277595	0.56308	-6.843	0.52878	T	.	.	0.141	0.35034	B	.;.;.;.	.;.;.;.	3.964730	0.58176	23.9	0.99755973861452096	0.84615	0.95273	0.64083	D	AEFDGBCI	0.674249	0.64004	D	0.687173453351296	0.78792	6.94343	0.667096150376396	0.79890	7.178879	0.999999999998095	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.659464	0.59346	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	3.761000	0.54954	4.164000	0.42229	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.869	0.78872	956	0.09877	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	33	chr15	70666926	.	T	G	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.07;ReadPosRankSum=-1.338e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/1:58,44:102:99:939,0,1462	20	0	1	0
chr15	82344935	82344935	G	0	exonic	GOLGA6L10	.	.	.	.	.	531	861	98	1	31	131	0.0548847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	326.23	37	chr15	82344935	.	G	A,*	326.23	.	AC=1,5;AF=0.025,0.125;AN=40;DP=1617;ExcessHet=1.8958;FS=22.164;InbreedingCoeff=-0.0857;MLEAC=1,5;MLEAF=0.025,0.125;MQ=34.00;QD=0.61;SOR=1.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:4,0,14:18:34:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:34,46,181,0,135,118:82344920	14	0	1	1
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	976.39	35	chr15	82344942	.	T	C,*	976.39	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.59;DP=1794;ExcessHet=0.5718;FS=29.828;InbreedingCoeff=-0.0755;MLEAC=4,9;MLEAF=0.250,0.563;MQ=47.54;MQRankSum=-4.628e+00;QD=1.84;ReadPosRankSum=1.21;SOR=1.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:4,0,14:18:34:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:34,46,181,0,135,118:82344920	2	1	0	13
chr15	82344983	82344983	A	0	exonic	GOLGA6L10	.	.	.	.	.	756	655	109	0	2	111	0.0768147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	49.01	27	chr15	82344983	.	A	*,G	49.01	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=-9.670e-01;DP=1596;ExcessHet=0.1504;FS=28.441;InbreedingCoeff=0.0481;MLEAC=6,1;MLEAF=0.200,0.033;MQ=38.57;MQRankSum=0.118;QD=0.10;ReadPosRankSum=-5.820e-01;SOR=1.570	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,12,2:15:22:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:103,63,66,22,0,58:82344920	10	0	4	6
chr15	82344984	82344984	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.58	9	chr15	82344984	.	C	*,T	48.58	.	AC=6,1;AF=0.188,0.031;AN=32;BaseQRankSum=-9.670e-01;DP=1652;ExcessHet=0.3087;FS=24.087;InbreedingCoeff=-0.0422;MLEAC=7,1;MLEAF=0.219,0.031;MQ=46.42;MQRankSum=0.118;QD=0.08;ReadPosRankSum=-4.680e-01;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,12,2:15:22:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:103,63,66,22,0,58:82344920	10	0	5	5
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/2:25,3,5:33:28:28,45,650,0,496,578	8	0	5	0
chr15	84025279	84025279	G	A	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon27:c.G4499A:p.G1500D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.987	D	0.002	N	0.995	D	2.58	M	-0.46	T	0.102	D	0.510	D	0.825	4.251	22.1	5.15	2.661	5.487	15.931	0.526	0.0490906224194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.002	0.79402	D	0.997	0.70673	D	0.949	0.77487	D	0.002038	0.37411	N	0.000000	0.995215	0.42592	D	3.185	0.88900	M	-0.46	0.70014	T	-4.05	0.74504	D	0.834	0.84401	0.102	0.84209	D	0.510	0.81608	D	10	0.98589414	0.98867	D	0.049091	0.63663	D	0.526	0.79947	0.966	0.99667	0.878826326238	0.87764	0.9115437569249368	0.91128	0.657816371367	0.58715	0.492614626884	0.37801	T	0.088066	0.38079	T	0.222153	0.75979	D	0.0813314	0.75668	D	0.996220529079437	0.88912	D	0.813919	0.46746	T	0.4115704	0.61526	0.43397337	0.66932	0.4115704	0.61526	0.43397337	0.66933	-8.283	0.62982	D	.	.	0.225	0.57665	B	.;.	.;.	4.413212	0.68290	25.2	0.99787313170124292	0.87308	0.92694	0.56318	D	AEFDGI	0.618511	0.60429	D	0.668465073037519	0.77567	6.69983	0.573489107101812	0.73044	5.906726	0.965308700839249	0.28822	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	5.632000	0.67493	9.265000	0.79590	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:0.0:1.0:0.0	15.931	0.79444	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1047.98	37	chr15	84025279	.	G	A	1047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.195;DP=788;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-5.740e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1062,0,968	20	0	1	0
chr15	84858226	84858226	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C3488T:p.A1163V,	.	.	.	.	.	.	.	.	.	.	.	1191723	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.994	D	0.000	D	0.999	D	2.175	M	-1.22	T	0.210	D	0.606	D	0.359	5.159	32	5.79	2.742	3.683	15.541	0.378	0.344173268938	.	.	8.491e-05	0	0	0	0	0.0002	0	0	4.53e-05	7	154602	rs755941827	7.403e-05	7.456e-05	7.909e-05	6.892e-05	0.0002	6.261e-05	5.819e-05	7.407e-05	6.805e-05	0	0	0	0	1.884e-05	0.0002	8.823e-05	8.296e-05	3.501e-05	2.631e-05	2.627e-05	2.571e-05	2.693e-05	5.883e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.883e-05	0	0	0.001	0.78490	D	0.012	0.63918	D	0.999	0.77913	D	0.994	0.82059	D	0.000259	0.46924	D	0.186252	0.998616	0.45166	D	2.615	0.76484	M	-1.22	0.78752	T	-2.04	0.46842	N	0.463	0.49965	0.210	0.86071	D	0.606	0.86034	D	10	0.43774632	0.57902	T	0.344173	0.92096	D	0.378	0.69612	0.287	0.24601	0.870092529206	0.86883	0.5307756042158425	0.53001	0.543955468731	0.51462	0.796879529953	0.81488	T	0.184126	0.53669	T	-0.0683471	0.41591	T	-0.13628	0.60439	T	0.427091603731134	0.29953	T	0.932107	0.74696	D	0.22431338	0.45070	0.27860174	0.53822	0.22431338	0.45070	0.27860174	0.53821	-6.084	0.46977	T	.	.	0.510	0.65042	A	.	.	4.645910	0.74011	26.1	0.999331460139671	0.99488	0.90311	0.51386	D	AEFDGBI	0.436931	0.49694	N	0.728723772931375	0.81518	7.540435	0.716756190302495	0.83653	8.078021	0.99999999999985	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	5.465000	0.66456	7.539000	0.60051	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	15.541	0.75790	641	0.64016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	933.98	45	chr15	84858226	.	C	T	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.710e-01;DP=855;ExcessHet=0.0000;FS=8.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.342;SOR=0.789	GT:AD:DP:GQ:PL	0/1:31,40:71:99:948,0,723	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	1/1:0,88,0:88:99:2519,264,0,2519,264,2519	0	11	9	0
chr15	88626703	88626703	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon2:c.G494A:p.R165Q,	.	.	420	1090	12	0	0	12	0.00547445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.426	B	0.135	B	0.340	N	1.000	N	1.26	L	2.13	T	-1.039	T	0.035	T	0.183	2.386	13.94	3.1	1.080	0.266	3.987	0.018	.	.	0.0121805	0.0050	0	0.0002	0	0	6.108e-05	0.0068	0.0357	0.0044372	686	154602	rs200899445	0.0022	0.0022	0.0012	0.0032	0.0340	0.0021	0.0021	0.0330	0.0326	0	4.472e-05	0	7.557e-05	0	0.0029	5.486e-05	0.0024	0.0340	0.0012	0.0012	0.0007	0.0018	0.0377	0.0011	0.0010	0.0332	0.0315	4.81e-05	0	0	0	0.0002	0	0	1.47e-05	0.0009	0.0377	0.122	0.38633	T	0.198	0.46406	T	0.426	0.35504	B	0.135	0.33210	B	0.339945	0.13979	N	0.615929	1	0.08975	N	1.255	0.31814	L	2.13	0.19588	T	-1.82	0.44284	N	0.211	0.23506	-1.0389	0.17648	T	0.035	0.14943	T	10	0.0020347834	0.00029	T	.	.	.	0.018	0.03083	0.444	0.50139	0.165133752707	0.16062	0.24645600362431594	0.24559	0.100238913073	0.11331	0.280011594296	0.07494	T	0.025509	0.28454	T	-0.572887	0.00213	T	-0.569926	0.15456	T	0.0195877320220199	0.00661	T	0.783522	0.45286	T	0.077798955	0.17678	0.093652986	0.22132	0.077798955	0.17678	0.093652986	0.22131	-8.102	0.61764	D	.	.	0.079	0.12371	B	.;.	.;.	2.157721	0.27490	17.48	0.99757228965615097	0.84772	0.13591	0.17943	N	AEFBCI	0.071638	0.14270	N	-0.357069559436553	0.27013	1.478788	-0.295603272592338	0.28243	1.573179	0.999997118940257	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.32	3.1	0.34780	0.241000	0.17843	1.471000	0.26753	0.654000	0.53741	0.000000	0.06391	0.115000	0.22839	0.995000	0.73285	0.2925:0.1791:0.5283:0.0	3.987	0.09010	915	0.20917	Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	37	chr15	88626703	.	G	A	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=921;ExcessHet=0.0000;FS=2.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-2.180e-01;SOR=1.004	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1141,0,1105	20	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,70,85:157:99:.:.:5173,3186,4187,1865,0,2592	0	0	0	0
chr15	101065824	101065824	C	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon32:c.C5387A:p.P1796H,	.	.	8	1496	17	1	0	19	0.0063102	.	.	714310	Osteosclerotic_metaphyseal_dysplasia|LRRK1-related_disorder|not_provided	MONDO:MONDO:0014080,MedGen:C3554665,OMIM:615198,Orphanet:500548|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.102	B	0.078	B	0.620	N	1.000	N	0.895	L	-0.62	T	-0.951	T	0.139	T	0.201	0.812	8.266	2.39	0.729	0.512	2.879	0.109	.	0.0061	0.00359425	0.0052	0.0015	0.0032	0	0.0027	0.0078	0.0090	0.0020	0.0052457	811	154602	rs34876840	0.0073	0.0073	0.0073	0.0072	0.0085	0.0072	0.0071	0.0084	0.0083	0.0016	0.0038	0.0054	2.519e-05	0.0033	0.0078	0.0085	0.0068	0.0023	0.0054	0.0054	0.0058	0.0050	0.0093	0.0051	0.0050	0.0087	0.0085	0.0016	0	0.0038	0.0046	0	0.0027	0	0.0093	0.0047	0.0029	0.072	0.34982	T	0.139	0.33666	T	0.102	0.25827	B	0.078	0.28627	B	0.620128	0.10786	N	0.851070	1	0.08975	N	1.245	0.31408	L	-0.62	0.71895	T	-0.75	0.21003	N	0.282	0.31925	-0.9511	0.40782	T	0.139	0.45734	T	10	0.004338801	0.00088	T	.	.	.	0.109	0.30843	.	.	0.825207846642	0.82355	0.16525511268245346	0.16445	0.604833836903	0.55405	0.271727979183	0.06368	T	0.013598	0.11729	T	-0.450204	0.01126	T	-0.410068	0.32218	T	0.00675985559278786	0.00076	T	0.417558	0.11011	T	0.044869	0.07246	0.04704456	0.06690	0.044869	0.07245	0.04704456	0.06690	-4.501	0.30902	T	.	.	0.083	0.09336	B	.	.	0.662888	0.10314	7.044	0.98318536786935773	0.40212	0.43952	0.27212	N	AEFDBCI	.	.	.	-0.772657777270142	0.14025	0.6953917	-0.78439514408433	0.14878	0.7796571	0.998318858286701	0.36741	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.7	2.39	0.28492	0.993000	0.29281	0.368000	0.17646	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4378:0.2424:0.3199	2.879	0.05294	870	0.31527	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1491.98	35	chr15	101065824	.	C	A	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.256;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1506,0,1198	20	0	1	0
chr15	101805780	101805780	C	T	exonic	OR4F6	.	nonsynonymous SNV	OR4F6:NM_001005326:exon1:c.C61T:p.R21W,	.	.	.	.	.	.	.	.	.	.	.	2716439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	0.009	N	1.000	N	-0.09	N	9.32	T	-0.948	T	0.000	T	0.263	-2.731	0	0.821	0.019	-0.331	2.779	0.035	0.00067276817553	.	.	5.772e-05	0	0.0003	0	0	4.501e-05	0	6.075e-05	4.53e-05	7	154602	rs769055061	4.72e-05	4.788e-05	5.717e-05	3.713e-05	0.0002	3.794e-05	3.476e-05	0.0001	9.193e-05	5.974e-05	0.0002	0	0	1.872e-05	0.0002	4.407e-05	0	6.956e-05	5.254e-05	5.25e-05	7.71e-05	2.687e-05	0.0004	2.556e-05	1.829e-05	7.296e-05	3.031e-05	2.407e-05	0	6.535e-05	0	0	0	0	5.882e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.009242	0.30447	N	0.157021	1	0.08975	N	0.23	0.09627	N	9.32	0.00010	T	7.84	0.00002	N	0.152	0.15609	-0.9477	0.41364	T	0.000	0.00039	T	10	0.020404547	0.00470	T	6.73E-4	0.00383	T	0.035	0.08770	.	.	0.248417906384	0.24464	0.16251423615115232	0.16171	0.0131259181495	0.01263	0.231544956565	0.02084	T	0.00751	0.06912	T	-0.508559	0.00511	T	-0.670727	0.07562	T	0.0214448994595937	0.00847	T	0.19798	0.02209	T	0.06197243	0.12894	0.029969422	0.01396	0.06197243	0.12894	0.029969422	0.01396	-4.458	0.30335	T	.	.	0.056	0.00461	B	.	.	0.117961	0.05162	1.680	0.54315182677749918	0.05113	0.00584	0.02629	N	AEFDBHI	0.035979	0.04719	N	-1.44836422549175	0.02230	0.09823166	-1.40841708587119	0.03167	0.1472088	1.26078161008509E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.68	0.821	0.17938	-0.862000	0.04371	-0.199000	0.10963	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.3219:0.1803:0.0:0.4977	2.779	0.05027	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	985.98	37	chr15	101805780	.	C	T	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.079e+00;DP=803;ExcessHet=0.0000;FS=1.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=0.261;SOR=0.534	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1000,0,1390	20	0	1	0
chr16	286691	286691	G	A	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon9:c.G1378A:p.G460S,	.	.	419	1088	14	1	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.036	B	0.035	B	0.000	N	0.801	N	0.525	N	3.9	T	-0.959	T	0.018	T	0.164	-2.080	0.006	1.21	-0.136	0.694	10.267	0.084	0.0383303803874	0.0022	0.00219649	0.0025	0.0002	0.0042	0.0001	0	0.0031	0.0046	0.0020	0.0023868	369	154602	rs113159258	0.0028	0.0028	0.0028	0.0028	0.0095	0.0027	0.0027	0.0075	0.0068	0.0004	0.0037	0.0173	0.0005	9.587e-05	0.0095	0.0027	0.0039	0.0015	0.0022	0.0022	0.0023	0.0021	0.0026	0.0020	0.0019	0.0023	0.0021	0.0009	0	0.0024	0.0193	0.0004	0	0.0034	0.0026	0.0038	0.0017	1.0	0.02338	T	1.0	0.15939	T	0.036	0.20732	B	0.035	0.22741	B	0.000111	0.50451	N	0.132033	0.801241	0.29112	N	0.595	0.15482	N	2.1	0.19990	T	0.64	0.02368	N	0.284	0.32148	-0.9592	0.39330	T	0.018	0.07565	T	10	0.015334785	0.00322	T	0.03833	0.58156	D	0.084	0.24469	.	.	0.183819452728	0.17975	0.7156520723905825	0.71508	.	.	0.306856572628	0.11431	T	0.018431	0.14860	T	-0.586981	0.00175	T	-0.617407	0.11389	T	0.000101227000413928	0.00001	T	0.661834	0.31558	T	0.031681966	0.03051	0.059995644	0.11353	0.031681966	0.03051	0.059995644	0.11353	-4.031	0.27811	T	.	.	0.098	0.47578	B	.;.;.	.;.;.	0.940317	0.13162	9.661	0.77956233680537812	0.12094	0.33354	0.24808	N	AEFDGBCI	0.286743	0.39905	N	-1.39456267348947	0.02689	0.119077	-1.34582563010309	0.03855	0.1806923	0.00228291425139696	0.09294	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.35	1.21	0.20240	0.717000	0.25523	0.824000	0.21882	-1.676000	0.00793	0.433000	0.26432	0.189000	0.23482	0.015000	0.10482	0.3163:0.0:0.6837:0.0	10.267	0.42637	763	0.50172	Thioredoxin domain|Thioredoxin domain;.;Thioredoxin domain|Thioredoxin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	619.98	40	chr16	286691	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.375;DP=964;ExcessHet=0.0000;FS=1.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.05;ReadPosRankSum=1.29;SOR=0.977	GT:AD:DP:GQ:PL	0/1:57,31:88:99:634,0,1325	20	0	1	0
chr16	346382	346382	G	A	exonic	AXIN1	.	nonsynonymous SNV	AXIN1:NM_003502:exon2:c.C644T:p.S215L	Hepatocellular carcinoma, somatic	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.009	B	0.004	B	0.002	N	0.826	D	0.41	N	1.99	T	-1.067	T	0.027	T	0.065	1.384	10.56	2.73	2.428	4.424	6.622	0.077	0.00637781895955	7.7e-05	0.000998403	0.0004	0.0003	0.0003	0	0	0.0005	0.0011	0.0008	0.0003752	58	154602	rs200741961	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0006	0.0005	0.0002	0.0005	0	2.519e-05	9.361e-05	0.0003	0.0002	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0002	0	0	0	0	0.0004	0.0005	0.0004	0.034	0.44694	D	0.075	0.42976	T	0.009	0.15093	B	0.003	0.10090	B	0.001941	0.37596	N	0.252848	0.826303	0.34850	D	0.69	0.16971	N	1.99	0.21666	T	-3.11	0.63669	D	0.101	0.14622	-1.0673	0.10017	T	0.027	0.11574	T	10	0.029723704	0.01099	T	0.006378	0.16783	T	0.077	0.22490	.	.	0.388010793773	0.38412	0.17855641716021825	0.17774	0.299420063141	0.32310	0.428594172001	0.29017	T	0.432804	0.78045	T	-0.529888	0.00385	T	-0.634761	0.10055	T	0.0299107457788782	0.01976	T	0.927907	0.73422	D	0.1398294	0.32286	0.13072373	0.31405	0.1398294	0.32285	0.13072373	0.31404	-8.593	0.65510	D	.	.	0.111	0.22861	B	.;.	.;.	3.881569	0.56424	23.7	0.99022329635021877	0.50613	0.82942	0.42105	D	AEFBCI	0.380846	0.46333	N	-0.156439831711355	0.34960	2.00219	0.0211081264695384	0.40697	2.43291	0.999807652352007	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.21	2.73	0.31266	4.450000	0.59781	6.499000	0.55779	0.676000	0.76740	0.851000	0.30461	1.000000	0.68203	0.971000	0.54645	0.1535:0.457:0.3894:0.0	6.622	0.22002	799	0.44747	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	979.98	75	chr16	346382	.	G	A	979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.870e-01;DP=1488;ExcessHet=0.0000;FS=1.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-1.824e+00;SOR=0.596	GT:AD:DP:GQ:PL	0/1:35,43:78:99:994,0,762	20	0	1	0
chr16	724193	724193	G	T	exonic	CCDC78	.	nonsynonymous SNV	CCDC78:NM_001378033:exon6:c.C399A:p.N133K	Myopathy, centronuclear, 4, Autosomal dominant	.	9	1498	14	1	0	16	0.00531208	.	.	134083	not_provided|Congenital_myopathy_with_internal_nuclei_and_atypical_cores	MedGen:C3661900|MONDO:MONDO:0013890,MedGen:C4707232,OMIM:614807,Orphanet:319160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.93	T	0.056	B	0.029	B	0.582	N	1.000	N	0.69	N	1.53	T	-1.017	T	0.058	T	0.069	-1.406	0.023	1.84	0.366	0.311	6.360	0.021	.	0.0022	0.00579073	0.0038	0.0010	0.0003	0	0.0005	0.0023	0.0024	0.0215	0.003564	551	154602	rs148595483	0.0041	0.0041	0.0037	0.0044	0.0156	0.0040	0.0039	0.0149	0.0147	0.0006	0.0006	8.004e-05	2.53e-05	0.0006	0.0018	0.0039	0.0027	0.0156	0.0025	0.0025	0.0025	0.0026	0.0157	0.0023	0.0022	0.0129	0.0118	0.0009	0	0.0010	0	0.0002	0.0003	0	0.0036	0.0028	0.0157	0.473	0.08408	T	0.037	0.51737	D	0.027	0.19556	B	0.029	0.21540	B	0.581672	0.11138	N	0.781096	1	0.08975	N	0.41	0.12415	N	1.53	0.30401	T	-0.63	0.18459	N	0.06	0.03175	-1.0174	0.24560	T	0.058	0.24204	T	10	0.003260076	0.00056	T	.	.	.	0.021	0.04004	0.35	0.34760	0.107399877778	0.10242	0.11275436581039935	0.11203	0.211714355051	0.23670	0.340663194656	0.16537	T	0.015237	0.12817	T	-0.664669	0.00059	T	-0.713247	0.05129	T	0.00010470310371602	0.00001	T	0.368163	0.08622	T	0.047227595	0.08038	0.034122482	0.02423	0.04815953	0.08349	0.037383053	0.03379	0.924	0.00142	T	0.07373419810585047	0.03135	0.184	0.39798	B	.	.	0.686643	0.10553	7.261	0.55073912796119606	0.05267	0.20745	0.21153	N	AEFDGBHCI	0.135530	0.25589	N	-0.877688504474423	0.11374	0.5485844	-0.98876482275893	0.10037	0.503023	0.999861528262454	0.44398	0.660377	0.49826	0	0.611049	0.52481	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	3.86	1.84	0.24348	0.909000	0.28180	1.417000	0.26331	-0.292000	0.06281	0.001000	0.13787	0.881000	0.27706	0.001000	0.02609	0.2528:0.0:0.7472:0.0	6.360	0.20628	662	0.61715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	881.98	41	chr16	724193	.	G	T	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.330e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-3.590e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:39,42:81:99:896,0,868	20	0	1	0
chr16	765234	765234	C	T	exonic	MSLN	.	nonsynonymous SNV	MSLN:NM_013404:exon8:c.C635T:p.P212L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.001	B	0.0	B	0.000	N	1.000	N	-1.1	N	2.75	T	-0.984	T	0.009	T	0.066	0.341	5.849	-5.61	-1.647	-1.449	2.559	0.031	0.00309411316019	.	0.000199681	7.421e-05	0	0.0007	0	0	0	0	9.304e-05	3.23e-05	5	154602	rs545304974	2.723e-05	2.873e-05	2.358e-05	3.093e-05	9.045e-05	2.039e-05	1.79e-05	2.397e-05	1.436e-05	9.045e-05	4.735e-05	0	2.573e-05	0	0	2.446e-05	5.038e-05	3.583e-05	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0004	1.714e-05	1.129e-05	6.82e-05	2.855e-05	4.81e-05	0	6.533e-05	0	0.0004	0	0	1.47e-05	0	0	0.357	0.12032	T	0.515	0.10643	T	0.0	0.07471	B	0.0	0.01387	B	0.000169	0.00496	N	10.548800	1	0.08975	N	1.09	0.27330	L	2.75	0.11622	T	-3.37	0.66665	D	0.082	0.06322	-0.9840	0.34069	T	0.009	0.03054	T	10	0.026279658	0.00798	T	0.003094	0.06696	T	0.031	0.07369	0.434	0.48500	0.255777322467	0.25185	0.21647584190114308	0.21563	0.0458901752618	0.04982	0.419752597809	0.27801	T	0.133402	0.46406	T	-0.548267	0.00299	T	-0.820774	0.01437	T	0.0460279630939218	0.04790	T	0.322368	0.06563	T	0.054530486	0.10474	0.08567847	0.19800	0.054530486	0.10473	0.08567847	0.19799	-1.47	0.01844	T	.	.	0.076	0.08033	B	.;.;.;.	.;.;.;.	-0.244482	0.02871	0.407	0.64183291905409412	0.07424	0.00237	0.01320	N	AEFBI	0.034358	0.04242	N	-2.16677053851288	0.00091	0.003891763	-2.19545041473129	0.00115	0.005038302	0.973858191279648	0.29492	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.8	-5.61	0.02291	-2.373000	0.01151	-0.169000	0.11245	-1.873000	0.00550	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1304:0.4319:0.2843:0.1534	2.559	0.04478	759	0.50631	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2077.98	38	chr16	765234	.	C	T	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.037;DP=896;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=2.18;SOR=0.554	GT:AD:DP:GQ:PL	0/1:76,91:167:99:2092,0,1522	20	0	1	0
chr16	787085	787085	C	T	exonic	RPUSD1	.	nonsynonymous SNV	RPUSD1:NM_001324412:exon3:c.G14A:p.G5D	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.137	B	0.000	D	1.000	D	0.89	L	2.59	T	-1.066	T	0.030	T	0.756	2.790	15.29	3.18	0.910	3.134	12.318	0.166	0.0775131887427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.064e-06	3.42e-06	0	4.149e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.011e-07	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.24955	T	0.35	0.51112	T	0.178	0.28960	B	0.137	0.33328	B	0.000037	0.55875	D	0.160792	0.999958	0.81001	D	-0.12	0.04575	N	2.59	0.51474	T	-0.35	0.12847	N	0.596	0.62273	-1.0661	0.10293	T	0.030	0.12848	T	10	0.21531391	0.38080	T	0.077513	0.72787	D	0.166	0.42578	0.554	0.67133	0.476205827853	0.47248	0.6963733126936741	0.69578	0.358935170816	0.37593	0.765232682228	0.76709	T	0.01392	0.11951	T	0.0512377	0.58502	T	-0.164177	0.57975	T	0.836479067802429	0.49042	D	0.860614	0.57326	D	0.17252788	0.37948	0.09872595	0.23547	0.17252788	0.37948	0.09872595	0.23546	-4.91	0.35847	T	.	.	0.136	0.36693	B	.;.;.;.;.;.	.;.;.;.;.;.	3.650501	0.51811	23.1	0.9899095865527382	0.49943	0.90033	0.50899	D	AEFBI	0.516782	0.54318	D	-0.165948444325962	0.34558	1.974006	-0.0616548493117379	0.36989	2.159873	0.999999481482757	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.723109	0.80598	0	0.651492	0.60203	0	.	.	4.18	3.18	0.35615	4.117000	0.57623	5.848000	0.50311	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.8275:0.1725:0.0	12.318	0.54294	749	0.51929	Pseudouridine synthase, RsuA/RluB/C/D/E/F|Pseudouridine synthase, RsuA/RluB/C/D/E/F;Pseudouridine synthase, RsuA/RluB/C/D/E/F|Pseudouridine synthase, RsuA/RluB/C/D/E/F;.;.;.;Pseudouridine synthase, RsuA/RluB/C/D/E/F	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1658.98	36	chr16	787085	.	C	T	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.261e+00;DP=883;ExcessHet=0.0000;FS=1.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.71;SOR=0.615	GT:AD:DP:GQ:PL	0/1:51,75:126:99:1673,0,1185	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,124:124:99:1|1:1397277_A_G:4245,4245,4245,372,372,0:1397277	1	6	3	5
chr16	2179616	2179616	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C3752T:p.P1251L,	.	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	.	.	1.000	D	1.67	L	0.23	T	-0.592	T	0.223	T	0.253	2.149	13.14	3.46	1.749	5.682	8.189	0.396	.	0.0043	0.00299521	0.0223	0.0048	0.0073	0	0.0641	0.0297	0	0.035	0.0033247	514	154602	rs201211065	0.0082	0.0077	0.0084	0.0079	0.0092	0.0080	0.0080	0.0091	0.0090	0.0010	0.0013	0.0006	0	0.0078	0.0030	0.0092	0.0061	0.0050	0.0048	0.0048	0.0051	0.0045	0.0078	0.0045	0.0044	0.0073	0.0071	0.0016	0.0011	0.0020	0.0012	0	0.0075	0	0.0078	0.0014	0.0035	0.001	0.78490	D	0.016	0.60972	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	2.25	0.63811	M	0.23	0.59717	T	-4.11	0.74980	D	0.506	0.53796	-0.5923	0.65128	T	0.223	0.58678	T	9	0.008794069	0.00199	T	.	.	.	0.396	0.71084	.	.	0.719674194334	0.71720	0.1309779199915567	0.13022	0.978654125277	0.73649	0.809084296227	0.83352	D	0.122975	0.44702	T	-0.35826	0.04229	T	-0.275715	0.47241	T	0.0228644197563702	0.01008	T	0.861714	0.55578	D	0.2658684	0.49657	0.26620787	0.52463	0.2658684	0.49656	0.26620787	0.52463	-3.902	0.22333	T	.	.	0.103	0.18497	B	.	.	5.044760	0.83989	28.2	0.99796499765478697	0.88194	0.94804	0.62386	D	AEFBI	0.654735	0.62732	D	0.524517995812425	0.68544	5.231846	0.458619277844003	0.65274	4.802945	0.994406536393526	0.33622	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	3.46	3.46	0.38718	5.879000	0.69436	9.581000	0.81029	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1121:0.0:0.8878:0.0	8.189	0.30518	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	899.98	36	chr16	2179616	.	G	A	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=761;ExcessHet=0.0000;FS=7.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=2.66;SOR=0.353	GT:AD:DP:GQ:PL	0/1:45,39:84:99:914,0,926	20	0	1	0
chr16	11446573	11446573	G	-	exonic	LOC400499	.	frameshift deletion	LOC400499:NM_001370704:exon33:c.4813delC:p.L1605Wfs*18,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1875.94	33	chr16	11446572	.	AG	A	1875.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.530e-01;DP=824;ExcessHet=0.0000;FS=2.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=1.08;SOR=0.880	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1890,0,1843	20	0	1	0
chr16	11462225	11462225	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon24:c.G3307A:p.G1103R,	.	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	.	.	.	.	0.918	U	1.000	N	-0.345	N	1.14	T	-1.011	T	0.023	T	0.092	-0.783	0.722	-0.073	0.032	1.161	5.944	0.041	0.0074661279961	.	0.00119808	0.0026	0	0	0	0	0.0006	0	0.0039	0.0002846	44	154602	rs148532774	0.0006	0.0005	0.0005	0.0007	0.0041	0.0005	0.0005	0.0037	0.0036	0	0.0011	0	0	0	0.0028	0.0003	0.0005	0.0041	0.0006	0.0006	0.0004	0.0009	0.0034	0.0005	0.0005	0.0027	0.0024	4.813e-05	0	0.0034	0	0	0	0.0068	0.0004	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	0.918136	0.08506	U	0.953154	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0109	0.26635	T	0.023	0.09741	T	8	0.0066248775	0.00150	T	0.007466	0.19819	T	.	.	.	.	0.40318662893	0.39936	.	.	.	.	.	.	.	.	.	.	-0.59717	0.00152	T	-0.63109	0.10331	T	0.0118435154448157	0.00184	T	0.469553	0.13876	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16319	B	.	.	0.910356	0.12847	9.360	0.79560407364661001	0.12797	0.01363	0.04662	N	AEFDBI	0.054014	0.09785	N	-0.918169669662985	0.10417	0.4976993	-1.01270355949855	0.09505	0.4732974	0.04849515559768	0.14771	0.660377	0.49826	0	0.610034	0.51514	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	3.68	-0.0732	0.13069	0.802000	0.26730	0.111000	0.14782	0.437000	0.21030	0.001000	0.13787	0.000000	0.08366	0.259000	0.23493	0.1903:0.3426:0.4671:0.0	5.944	0.18444	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1198.98	33	chr16	11462225	.	C	T	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=830;ExcessHet=0.0000;FS=1.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.889;SOR=0.558	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1213,0,1428	20	0	1	0
chr16	11471694	11471694	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon21:c.G2948A:p.R983Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	0.0038	0.0162	0	0	0	0	0	0	0.0002652	41	154602	rs28580707	0.0005	0.0003	0.0007	0.0004	0.0136	0.0005	0.0004	0.0115	0.0106	0.0136	0.0011	0	0	0	0	5.691e-05	0.0012	0	0.0032	0.0032	0.0034	0.0029	0.0108	0.0029	0.0028	0.0100	0.0097	0.0108	0	0.0015	0	0.0002	0	0	1.47e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005267322	0.00115	T	.	.	.	.	.	.	.	0.300449992093	0.29664	.	.	.	.	.	.	.	.	.	.	-0.545564	0.00310	T	-0.542816	0.18020	T	.	.	.	0.572743	0.20478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03811	B	.	.	0.152869	0.05446	1.918	0.85393923011393102	0.15865	0.00116	0.00732	N	AEFDBI	0.025791	0.01827	N	.	.	.	.	.	.	0.110996699105975	0.16647	0.713056	0.82018	0	0.626922	0.53725	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	4.01	-1.52	0.08181	-0.378000	0.07503	-2.679000	0.03475	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.4233:0.0:0.5767	7.928	0.29049	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1185.98	40	chr16	11471694	.	C	T	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=845;ExcessHet=0.0000;FS=4.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.201;SOR=1.055	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1200,0,1156	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/1:71,9,0,0,0:80:99:147,0,2830,360,2858,3218,360,2858,3218,3218,360,2858,3218,3218,3218	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/1:71,9,0,0,0:80:99:147,0,2830,360,2858,3218,360,2858,3218,3218,360,2858,3218,3218,3218	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/1:71,9,0,0,0:80:99:147,0,2830,360,2858,3218,360,2858,3218,3218,360,2858,3218,3218,3218	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,98,48:146:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:4364,1887,1866,2724,0,3825:11927441	2	11	4	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:52,30:82:96:96,0,774	1	0	20	0
chr16	14644534	14644534	C	A	exonic	BFAR	.	nonsynonymous SNV	BFAR:NM_001330500:exon2:c.C188A:p.A63E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.005	B	0.057	N	1.000	D	-0.15	N	3.28	T	-0.908	T	0.008	T	0.278	0.005	4.042	0.86	-0.107	1.209	9.724	0.034	0.00533588333422	.	.	0.0001	0	0.0002	0	0	0.0001	0	0.0005	0.0001229	19	154602	rs771251453	6.636e-05	6.635e-05	4.901e-05	8.389e-05	0.0012	5.562e-05	5.153e-05	0.0006	0.0004	2.987e-05	6.708e-05	0	0	0	0.0012	4.767e-05	4.968e-05	0.0003	9.855e-05	9.844e-05	0.0001	8.064e-05	0.0002	6.006e-05	4.879e-05	9.049e-05	7.013e-05	4.815e-05	0	6.548e-05	0	0	0	0.0034	0.0002	0	0	1.0	0.02039	T	0.737	0.05036	T	0.0	0.02946	B	0.004	0.10090	B	0.057426	0.22481	N	0.506569	1	0.81001	D	0.125	0.08623	N	3.28	0.06523	T	0.05	0.09965	N	0.086	0.08786	-0.9084	0.47049	T	0.008	0.02638	T	10	0.03339094	0.01514	T	0.005336	0.13648	T	0.034	0.08419	.	.	0.148003135375	0.14442	0.36659957602289933	0.36573	0.129847023241	0.14643	0.356572657824	0.18886	T	0.009949	0.09021	T	-0.444899	0.01210	T	-0.584694	0.14128	T	0.0100683977405082	0.00135	T	0.569643	0.20265	T	0.042642996	0.06503	0.101475	0.24292	0.042642996	0.06503	0.101475	0.24292	-5.133	0.38253	T	.	.	0.132	0.43922	B	.;.;.;.	.;.;.;.	0.545616	0.09141	5.925	0.79476163962497071	0.12759	0.79399	0.39337	D	AEFBI	0.031675	0.03434	N	-0.902969079651906	0.10773	0.5164336	-0.688961120383023	0.17236	0.9155802	0.693294445003377	0.22613	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.02	0.86	0.18179	1.196000	0.31807	-0.499000	0.08813	-0.185000	0.09859	0.942000	0.32722	0.000000	0.08366	0.940000	0.48062	0.0:0.2636:0.0:0.7364	9.724	0.39486	674	0.60593	Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1044.98	43	chr16	14644534	.	C	A	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=839;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.326;SOR=0.549	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1059,0,1304	20	0	1	0
chr16	21404280	21404280	G	A	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.179e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	51.18	3	chr16	21404280	.	G	A	51.18	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.00;DP=86;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0960;MLEAC=1;MLEAF=0.026;MQ=45.57;MQRankSum=-2.029e+00;QD=4.26;ReadPosRankSum=-1.730e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,4:12:63:63,0,162	18	0	1	2
chr16	21404822	21404822	A	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	534	979	9	0	0	9	0.0045755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.782	P	0.588	P	.	.	1.000	N	.	.	2.23	T	-1.065	T	0.027	T	0.124	-2.992	0.001	.	0.064	0.061	.	0.034	0.000814305480675	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs768919248	0.0008	0.0008	0.0005	0.0010	0.0072	0.0007	0.0007	0.0068	0.0066	0.0002	0.0003	0.0050	0	4.968e-05	0.0050	0.0002	0.0011	0.0072	0.0003	0.0004	0.0004	0.0002	0.0012	0.0002	0.0002	0.0002	9.749e-05	0.0002	0	0.0004	0.0028	0	0	0	0.0002	0.0009	0.0012	0.26	0.16574	T	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-5.27	0.84175	D	0.371	0.41261	-1.0654	0.10456	T	0.027	0.11485	T	6	0.010564804	0.00235	T	8.14E-4	0.00649	T	0.034	0.08419	.	.	0.0675242888579	0.06100	0.0039076825103428045	0.00366	.	.	.	.	.	.	.	.	-0.553547	0.00278	T	-0.560232	0.16355	T	0.132421325003228	0.15604	T	0.514049	0.16524	T	.	.	.	.	.	.	.	.	-5.128	0.38201	T	.	.	.	.	.	.	.	0.412528	0.07833	4.529	0.11368674612924323	0.00169	0.00268	0.01460	N	AEFI	0.064389	0.12500	N	-1.10038978236753	0.06637	0.3060837	-1.28425517447828	0.04643	0.219474	1.09547697404592E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.187000	0.16806	-1.134000	0.06229	0.222000	0.18087	0.018000	0.19461	0.000000	0.08366	0.011000	0.09372	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	6865.72	36	chr16	21404822	.	A	G	6865.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.443e+00;DP=2372;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=35.89;MQRankSum=0.605;QD=8.60;ReadPosRankSum=-7.810e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,49:147:99:0|1:21404773_G_A:1752,0,3966:21404773	17	0	3	1
chr16	21404830	21404830	C	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	521	992	9	0	0	9	0.00451581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.013	B	0.013	B	.	.	1.000	N	.	.	2.25	T	-0.985	T	0.011	T	0.071	-2.748	0	.	-2.328	-2.332	.	0.113	0.00305511340832	.	.	1.21e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs764442120	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0007	0.0068	0.0066	0.0002	0.0004	0.0051	0.0001	0	0.0053	0.0003	0.0012	0.0072	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0002	9.48e-05	0.0002	0	0.0001	0.0022	0	0	0	0.0002	0.0017	0.0011	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	3.63	0.00077	N	0.211	0.23506	-0.9853	0.33760	T	0.011	0.04274	T	6	0.014197737	0.00299	T	0.003055	0.06577	T	0.113	0.31778	.	.	0.043077524339	0.03247	0.003800006791874197	0.00355	.	.	.	.	.	.	.	.	-0.658688	0.00064	T	-0.72572	0.04523	T	0.00588467453405273	0.00065	T	0.548145	0.18826	T	.	.	.	.	.	.	.	.	3.676	0.00011	T	.	.	.	.	.	.	.	-0.709877	0.01297	0.069	0.3888448388659913	0.02650	0.00019	0.00214	N	AEFI	0.016501	0.00375	N	-2.01282428854043	0.00199	0.00850851	-2.13039005528964	0.00160	0.007031799	4.56923251083003E-5	0.03989	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-3.305000	0.00575	-4.306000	0.02226	-2.807000	0.00183	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	7237.77	36	chr16	21404830	.	C	G	7237.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=1.19;DP=2457;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0789;MLEAC=3;MLEAF=0.075;MQ=36.50;MQRankSum=0.439;QD=8.45;ReadPosRankSum=-3.100e-01;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,49:149:99:0|1:21404773_G_A:1756,0,4050:21404773	17	0	3	1
chr16	21404840	21404840	G	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	489	1024	9	0	0	9	0.0043753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.235	B	0.079	B	.	.	1.000	N	.	.	1.89	T	-0.991	T	0.032	T	0.071	-0.976	0.297	.	0.073	0.064	.	0.080	0.000773427527902	.	.	8.924e-06	0	0	0	0	1.608e-05	0	0	3.84e-05	1	26028	rs780924189	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0007	0.0067	0.0065	0.0002	0.0003	0.0050	0.0003	0	0.0052	0.0003	0.0011	0.0072	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0003	0.0001	6.338e-05	0	7.944e-05	0.0016	0.0003	0	0	0.0002	0.0006	0.0010	0.226	0.18562	T	0.461	0.12562	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.0	0.26422	N	0.186	0.20262	-0.9910	0.32347	T	0.032	0.13592	T	6	0.023569375	0.00621	T	7.73E-4	0.00568	T	0.080	0.23350	.	.	0.043077524339	0.03247	0.0020208442233526284	0.00187	.	.	.	.	.	.	.	.	-0.607099	0.00132	T	-0.652096	0.08808	T	0.00632926929471588	0.00070	T	0.60384	0.22664	T	.	.	.	.	.	.	.	.	-4.157	0.26126	T	.	.	.	.	.	.	.	0.171734	0.05604	2.060	0.65293036323049336	0.07732	0.00386	0.01946	N	AEFI	0.043803	0.06970	N	-1.08744069757645	0.06873	0.3176827	-1.23639843889576	0.05335	0.2539725	1.09582168514057E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.196000	0.16979	-2.062000	0.04270	0.286000	0.18717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	8405.72	36	chr16	21404840	.	G	T	8405.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.942e+00;DP=2579;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=37.22;MQRankSum=0.316;QD=8.92;ReadPosRankSum=0.040;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,52:162:99:0|1:21404773_G_A:1835,0,4421:21404773	17	0	3	1
chr16	21404850	21404850	C	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	493	1019	1	0	9	10	0.000490436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.507e-05	0.0003	0	0	0	1.593e-05	0	0	3.84e-05	1	26028	rs771031390	0.0009	0.0010	0.0007	0.0012	0.0072	0.0009	0.0009	0.0067	0.0065	0.0009	0.0004	0.0051	0.0003	7.022e-05	0.0057	0.0004	0.0015	0.0072	0.0005	0.0008	0.0006	0.0003	0.0013	0.0004	0.0003	0.0005	0.0005	0.0008	0	0.0002	0.0016	0	0	0	0.0003	0.0012	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	8581.77	36	chr16	21404850	.	C	T	8581.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=0.725;DP=2655;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0789;MLEAC=3;MLEAF=0.075;MQ=37.58;MQRankSum=0.025;QD=8.75;ReadPosRankSum=-1.020e-01;SOR=0.740	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,53:164:99:0|1:21404773_G_A:1840,0,4446:21404773	17	0	3	1
chr16	22534079	22534079	C	A	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.C1096A:p.L366I,	.	.	574	945	3	0	0	3	0.00158479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.009	B	0.05	B	.	.	1.000	N	0.9	L	2.22	T	-0.973	T	0.032	T	0.166	-0.294	2.595	.	-0.000	0.882	.	0.029	0.00253055262335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259853859	7.414e-05	0.0001	7.475e-05	7.355e-05	0.0004	6.158e-05	5.708e-05	0.0002	0.0002	0.0004	7.203e-05	0	2.601e-05	2.589e-05	0.0003	7.243e-05	3.708e-05	4.823e-05	0.0003	0.0016	0.0004	0.0003	0.0007	0.0003	0.0002	0.0004	0.0004	0.0007	0	0.0002	0	0	0.0002	0	0.0002	0	0.0004	0.076	0.34269	T	0.27	0.22359	T	0.009	0.15093	B	0.05	0.25278	B	.	.	.	.	0.999997	0.08975	N	.	.	.	2.22	0.18724	T	-0.73	0.21860	N	0.12	0.12484	-0.9727	0.36627	T	0.032	0.13811	T	7	0.043688387	0.03246	T	0.002531	0.05065	T	0.029	0.06676	0.116	0.02439	0.0138822411134	0.00435	0.0016298156997669913	0.00150	.	.	.	.	.	0.029313	0.21033	T	-0.443463	0.01234	T	-0.595345	0.13205	T	0.0103976514661646	0.00143	T	0.539746	0.23293	T	0.14563556	0.33374	0.09109716	0.21399	0.14563556	0.33374	0.09109716	0.21399	-2.903	0.09173	T	.	.	0.131	0.38711	B	.;.;.;.;.;.	.;.;.;.;.;.	0.428264	0.07985	4.702	0.84175498262196458	0.15140	0.08765	0.14646	N	AEFI	0.083874	0.16995	N	-1.06413077587105	0.07313	0.3393362	-1.14613705537636	0.06837	0.3305041	3.28878685552073E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.904000	0.28114	-1.738000	0.04817	0.116000	0.17634	0.043000	0.21118	0.000000	0.08366	0.003000	0.05239	.	.	.	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	208.98	40	chr16	22534079	.	C	A	208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.984e+00;DP=907;ExcessHet=0.0000;FS=2.171;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.41;MQRankSum=-3.406e+00;QD=2.25;ReadPosRankSum=2.22;SOR=0.413	GT:AD:DP:GQ:PL	0/1:73,20:93:99:223,0,1728	20	0	1	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T,	.	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.153	B	0.046	B	0.000	D	1.000	D	1.79	L	1.98	T	-1.094	T	0.031	T	0.125	2.253	13.49	3.05	0.697	2.859	6.989	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2585.11	33	chr16	24939524	.	C	T	2585.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.55;DP=915;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.058;SOR=0.715	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1211,0,1067	19	0	2	0
chr16	25217373	25217373	C	T	exonic	AQP8	.	nonsynonymous SNV	AQP8:NM_001169:exon2:c.C188T:p.T63I,	.	.	426	1095	1	0	0	1	0.000456413	.	.	2728190	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.759	P	0.303	B	0.056	N	1.000	N	0.46	N	-3.06	D	-0.306	T	0.525	D	0.162	0.649	7.480	0.65	0.261	0.920	10.808	0.279	0.101937293265	.	0.000199681	0.0001	0	8.639e-05	0	0	0.0002	0.0011	0	9.7e-05	15	154602	rs199576560	4.583e-05	4.583e-05	2.586e-05	6.601e-05	0.0003	3.661e-05	3.347e-05	8.861e-05	6.427e-05	0	0.0002	0	0	0	0.0003	4.856e-05	4.968e-05	0	5.252e-05	5.249e-05	5.139e-05	5.37e-05	0.0001	2.555e-05	1.829e-05	4.764e-05	3.339e-05	0	0	6.539e-05	0	0	0	0	0.0001	0	0	0.028	0.46129	D	0.164	0.32355	T	0.759	0.43487	P	0.303	0.41149	B	0.056023	0.22593	N	0.508710	0.999995	0.08975	N	0.725	0.18768	N	-3.06	0.92457	D	-2.19	0.49352	N	0.367	0.40864	-0.3057	0.74826	T	0.525	0.82322	D	10	0.17581025	0.32531	T	0.101937	0.77511	D	0.279	0.59619	.	.	0.914429185521	0.91357	0.5647228980051362	0.56399	0.489357506599	0.47703	0.3659247756	0.20246	T	0.572853	0.85886	D	-0.213051	0.18953	T	-0.27451	0.47364	T	0.070801896104205	0.08763	T	0.579642	0.20943	T	0.04730445	0.08065	0.065245956	0.13195	0.04730445	0.08065	0.065245956	0.13195	-4.436	0.30042	T	.	.	0.227	0.47261	B	.;.	.;.	1.467748	0.18910	13.99	0.95566397392544056	0.27250	0.15704	0.19041	N	AEFDBCI	0.152909	0.27768	N	-0.93751315324016	0.09975	0.4745245	-1.01595163720322	0.09434	0.4693536	0.0186308937735541	0.13080	0.500041	0.20204	0	0.624306	0.53593	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	0.65	0.16984	1.916000	0.39617	0.221000	0.16075	-0.852000	0.02700	0.004000	0.16614	0.000000	0.08366	0.227000	0.22653	0.0:0.6795:0.0:0.3205	10.808	0.45734	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1021.98	34	chr16	25217373	.	C	T	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.687;SOR=0.782	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1036,0,918	20	0	1	0
chr16	28984262	28984262	G	A	exonic	SPNS1	.	nonsynonymous SNV	SPNS1:NM_001142449:exon10:c.G1328A:p.R443H	.	.	426	1079	14	3	0	20	0.00918274	.	.	2735894	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.982	D	0.000	D	1.000	D	1.525	L	1.66	T	-0.825	T	0.149	T	0.512	4.952	28.8	4.45	2.311	6.756	14.639	0.145	.	0.0035	0.00279553	0.0044	0.0006	0.0042	0.0001	0.0003	0.0063	0.0121	0.0022	0.0042626	659	154602	rs149610167	0.0048	0.0048	0.0048	0.0048	0.0264	0.0047	0.0047	0.0230	0.0217	0.0016	0.0062	0.0072	0	0.0010	0.0264	0.0051	0.0063	0.0024	0.0046	0.0046	0.0046	0.0046	0.0111	0.0044	0.0042	0.0097	0.0092	0.0013	0.0384	0.0111	0.0081	0.0002	0.0007	0.0646	0.0052	0.0118	0.0029	0.006	0.61437	D	0.026	0.55759	D	0.999	0.90584	D	0.854	0.75477	P	0.000001	0.84330	D	0.000000	0.999991	0.58761	D	1.735	0.44892	L	1.48	0.39990	T	-0.73	0.22294	N	0.437	0.55366	-0.8253	0.53600	T	0.149	0.47540	T	10	0.006913781	0.00157	T	.	.	.	0.145	0.38592	.	.	0.394990421082	0.39112	0.7175958263630094	0.71702	1.70229230814	0.90338	0.620524287224	0.55803	T	0.266618	0.63858	T	-0.517054	0.00458	T	-0.508949	0.21424	T	0.0263335722069468	0.01451	T	0.969203	0.88895	D	0.13293906	0.30938	0.12021998	0.29014	0.13293906	0.30938	0.12021998	0.29014	-3.639	0.20268	T	.	.	0.167	0.50398	B	.;.;.;.;.	.;.;.;.;.	5.522010	0.91790	32	0.99957821351955689	0.99986	0.98392	0.82308	D	AEFDBI	0.739719	0.68418	D	0.642076983753852	0.75855	6.380645	0.620311877414022	0.76417	6.487071	0.999999999768279	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.45	4.45	0.53365	4.278000	0.58741	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.639	0.68310	475	0.77788	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1205.98	33	chr16	28984262	.	G	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=841;ExcessHet=0.0000;FS=3.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.361;SOR=0.649	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1220,0,1238	20	0	1	0
chr16	29807080	29807088	GCTGCGGCC	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001042539:exon2:c.295_303del:p.A106_A108del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	.	.	0	.	0	3.84e-05	1	26028	rs758356460	0.0001	0.0001	9.866e-05	0.0001	0.0014	8.6e-05	7.918e-05	0.0006	0.0005	6.162e-05	0	0	0.0014	0	0	9.459e-05	0.0001	0.0002	0.0003	0.0003	0.0003	0.0004	0.0018	0.0003	0.0002	0.0013	0.0011	0.0002	0	0.0018	0	0.0008	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3222.07	11	chr16	29807079	.	TGCTGCGGCC	T	3222.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=372;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=1.04;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,85:162:99:0|1:29807079_TGCTGCGGCC_T:3236,0,2934:29807079	20	0	1	0
chr16	30662811	30662811	G	A	exonic	FBRS	.	nonsynonymous SNV	FBRS:NM_001105079:exon6:c.G1007A:p.G336D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	.	.	.	.	0.969	U	1.000	D	.	.	1.0	T	-1.106	T	0.085	T	0.3	2.501	14.32	3.94	2.500	2.103	9.894	0.091	0.0148565663711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.022e-06	4.104e-06	1.472e-06	4.656e-06	0.0001	7.1e-07	4.8e-07	3.867e-05	2.296e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.292	0.20877	T	.	.	.	.	.	.	0.968664	0.08174	U	0.943528	1	0.81001	D	.	.	.	1.0	0.41392	T	-2.74	0.58248	D	0.269	0.30461	-1.1059	0.03447	T	0.085	0.33043	T	7	0.17914927	0.33035	T	0.014857	0.35248	T	0.091	0.26358	0.285	0.24280	0.255117706274	0.25116	0.4703049813164244	0.46949	2.29238177164	0.96400	.	.	.	.	.	.	-0.125482	0.32228	T	-0.418022	0.31303	T	0.698462903499603	0.40646	D	0.644036	0.25562	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.59860	A	.	.	4.069341	0.60449	24.2	0.99562522056473501	0.71892	0.89958	0.50771	D	AEFDBI	0.295540	0.40563	N	0.11864936002957	0.47333	2.96048	0.168050577766075	0.48107	3.031124	0.999997470218221	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.654045	0.52621	0	0.711	0.71501	0	.	.	3.94	3.94	0.44807	4.921000	0.63096	9.800000	0.81690	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.208:0.792:0.0	9.894	0.40478	31	0.98186	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1004.98	37	chr16	30662811	.	G	A	1004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.680e-01;DP=797;ExcessHet=0.0000;FS=1.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-6.690e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1019,0,907	20	0	1	0
chr16	50084214	50084214	G	A	exonic	HEATR3	.	nonsynonymous SNV	HEATR3:NM_001329731:exon8:c.G520A:p.G174R	.	.	437	1043	41	1	0	43	0.0201973	.	.	3416369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.976	D	0.487	P	0.019	N	1.000	N	1.59	L	1.52	T	-1.071	T	0.049	T	0.169	0.983	9.012	1.33	0.413	1.704	7.369	0.087	.	0.0081	0.00299521	0.0070	0.0018	0.0049	0.0001	0.0070	0.0104	0.0110	0.0010	0.0068951	1066	154602	rs34805615	0.0078	0.0078	0.0077	0.0078	0.0420	0.0076	0.0076	0.0376	0.0359	0.0026	0.0074	0.0462	5.038e-05	0.0071	0.0420	0.0075	0.0101	0.0009	0.0069	0.0069	0.0071	0.0066	0.0098	0.0065	0.0064	0.0085	0.0080	0.0012	0.0154	0.0098	0.0435	0	0.0061	0.0476	0.0084	0.0118	0.0004	0.106	0.29688	T	0.019	0.59159	D	0.96	0.55278	D	0.293	0.40773	B	0.019339	0.27282	N	0.456099	0.99998	0.18612	N	2.015	0.55033	M	1.52	0.30669	T	-0.88	0.23808	N	0.352	0.39356	-1.0712	0.09151	T	0.049	0.20789	T	10	0.005854368	0.00131	T	.	.	.	0.087	0.25287	0.311	0.28451	0.40318662893	0.39936	0.18213983312205353	0.18132	0.335886373726	0.35593	0.361995697021	0.19676	T	0.006848	0.06276	T	-0.547466	0.00302	T	-0.548143	0.17505	T	0.00630700459818107	0.00070	T	0.80032	0.44603	T	0.032337006	0.03238	0.046086553	0.06345	0.032337006	0.03238	0.046086553	0.06345	-4.379	0.29271	T	.	.	0.123	0.25850	B	.	.	1.351276	0.17589	13.25	0.95033727908892129	0.26031	0.32651	0.24637	N	AEFDBIJ	0.064541	0.12537	N	-0.371558865280541	0.26488	1.445955	-0.465156096169464	0.23120	1.259213	0.998687191155352	0.37455	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	1.33	0.20958	1.741000	0.37862	0.134000	0.15084	-0.106000	0.15538	0.598000	0.27730	0.000000	0.08366	0.033000	0.13494	0.2765:0.0:0.5948:0.1287	7.369	0.25963	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1355.98	49	chr16	50084214	.	G	A	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=1039;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.136;SOR=0.695	GT:AD:DP:GQ:PL	0/1:71,60:131:99:1370,0,1512	20	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.68	T	-1.008	T	0.075	T	0.027	-0.551	1.503	-2.28	-0.568	-0.033	2.621	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1574.94	129	chr16	50669118	.	A	G	1574.94	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.087e+00;DP=2354;ExcessHet=1.7912;FS=129.128;InbreedingCoeff=-0.1838;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=0.663;SOR=9.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,15:89:99:0|1:50669118_A_G:188,0,2555:50669118	15	0	6	0
chr16	51137293	51137293	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon3:c.G3503A:p.G1168E	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	272359	Townes_syndrome|Townes-Brocks_syndrome_1|not_provided|SALL1-related_disorder|not_specified	MONDO:MONDO:0007142,MeSH:C536974,MedGen:C0265246,OMIM:PS107480,Orphanet:857|MONDO:MONDO:0054581,MedGen:C4551481,OMIM:107480,Orphanet:857|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.999	D	0.982	D	0.000	D	1.000	D	1.59	L	0.57	T	-0.792	T	0.257	T	0.811	3.137	16.49	5.53	2.603	2.901	19.468	0.265	0.0341230342325	0.0019	0.00119808	0.0014	9.61e-05	0.0009	0	0.0003	0.0022	0.0022	0.0009	0.0014812	229	154602	rs149302006	0.0015	0.0015	0.0015	0.0015	0.0052	0.0015	0.0015	0.0037	0.0032	0.0003	0.0016	0.0038	0	0.0003	0.0052	0.0016	0.0017	0.0009	0.0012	0.0012	0.0013	0.0011	0.0018	0.0011	0.0010	0.0015	0.0014	0.0004	0	0.0014	0.0037	0	0.0005	0.0068	0.0018	0.0019	0.0006	0.015	0.52492	D	0.096	0.39340	T	0.998	0.73220	D	0.873	0.61978	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	0.57	0.54347	T	-0.81	0.28084	N	0.182	0.20528	-0.7924	0.55589	T	0.257	0.62744	T	10	0.007502228	0.00171	T	0.034123	0.55463	D	0.265	0.57870	.	.	0.285775778912	0.28195	0.4965408676241961	0.49575	0.284214640594	0.30848	.	.	.	0.405603	0.76174	T	-0.184235	0.23107	T	-0.0432751	0.67480	D	0.0287044439464808	0.01792	T	0.706929	0.32360	T	0.34748647	0.56872	0.36901322	0.62180	0.36580786	0.58274	0.32565126	0.58478	-8.583	0.64977	D	.	.	0.195	0.47283	B	.;.	.;.	3.438474	0.47819	22.5	0.99755607838027882	0.84615	0.91622	0.53913	D	AEFDBI	0.630361	0.61173	D	0.414828643316963	0.62236	4.436387	0.452335594685038	0.64866	4.752103	0.999999781136577	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	2.962000	0.48869	3.335000	0.37659	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.468	0.94942	891	0.26808	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1073.98	44	chr16	51137293	.	C	T	1073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.770e-01;DP=958;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=0.401;SOR=0.671	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1088,0,1307	20	0	1	0
chr16	56652588	56652588	G	A	exonic	MT1B	.	nonsynonymous SNV	MT1B:NM_005947:exon2:c.G46A:p.A16T,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.011	B	0.009	B	0.001	U	1.000	N	.	.	2.74	T	-1.024	T	0.009	T	0.13	0.338	5.834	-0.88	-0.324	-0.110	3.056	0.013	.	0.0062	0.00319489	0.0073	0.0021	0.0019	0	0.0364	0.0088	0.0055	0.0003	0.0068175	1054	154602	rs150778656	0.0076	0.0076	0.0080	0.0073	0.0076	0.0075	0.0075	0.0074	0.0074	0.0012	0.0026	0.0089	0	0.0358	0.0017	0.0076	0.0066	0.0003	0.0073	0.0073	0.0061	0.0086	0.0078	0.0070	0.0068	0.0072	0.0070	0.0017	0.0011	0.0047	0.0066	0	0.0387	0	0.0078	0.0047	0	0.086	0.32610	T	0.328	0.33666	T	0.011	0.15914	B	0.009	0.14300	B	0.001131	0.40136	U	0.096387	1	0.08975	N	.	.	.	2.74	0.11730	T	-2.75	0.58407	D	0.122	0.14054	-1.0236	0.22541	T	0.009	0.03448	T	9	0.003201753	0.00054	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.09247728874110794	0.09179	0.0681126580952	0.07629	0.247762322426	0.03536	T	0.174978	0.52439	T	-0.67178	0.00054	T	-0.731203	0.04274	T	0.00739677010414463	0.00085	T	0.607439	0.22904	T	0.07804144	0.17749	0.092954755	0.21932	0.07804144	0.17749	0.092954755	0.21931	-6.631	0.51289	T	.	.	0.075	0.06433	B	.;.	.;.	0.507494	0.08762	5.540	0.56561668799930442	0.05579	0.01286	0.04483	N	AEFGBI	0.029638	0.02833	N	-1.27013903768954	0.04040	0.1815974	-1.37873958083765	0.03480	0.1623922	0.0576636161022018	0.15100	0.625279	0.40028	0	0.627178	0.54094	0	0.563428	0.18855	0	0.59522	0.37078	0	.	.	2.61	-0.88	0.10073	-0.262000	0.08706	-2.551000	0.03618	-1.359000	0.01183	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2619:0.0:0.5283:0.2098	3.056	0.05811	884	0.28482	Metallothionein, vertebrate, metal binding site;Metallothionein, vertebrate, metal binding site	.	.	.	.	rs150778656	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	475.98	49	chr16	56652588	.	G	A	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.240e-01;DP=1935;ExcessHet=0.0000;FS=4.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=0.992;SOR=0.298	GT:AD:DP:GQ:PL	0/1:25,22:47:99:490,0,520	20	0	1	0
chr16	64948685	64948685	C	A	exonic	CDH11	.	nonsynonymous SNV	CDH11:NM_001308392:exon13:c.G1997T:p.R666I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.33	T	-0.975	T	0.129	T	0.072	1.176	9.782	-7.27	-2.917	-0.097	11.798	0.164	0.0094654037705	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs768409959	6.871e-07	2.053e-06	1.366e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.33	0.58323	T	-2.16	0.48850	N	0.228	0.25622	-0.9753	0.36059	T	0.129	0.43787	T	8	0.12868133	0.24479	T	0.009465	0.24786	T	0.164	0.42212	0.575	0.69957	0.411411441165	0.40760	.	.	.	.	.	.	.	.	.	.	-0.259695	0.12936	T	-0.610811	0.11918	T	0.0964033924645899	0.11956	T	0.40416	0.10358	T	.	.	.	.	.	.	.	.	-3.039	0.10607	T	.	.	0.151	0.33458	B	.	.	0.026679	0.04469	1.187	0.89913335390322258	0.19213	0.01119	0.04084	N	AEFBI	0.040207	0.05947	N	-1.62783212799626	0.01132	0.0491679	-1.79670344964322	0.00770	0.03432799	0.999999891180091	0.74766	0.600919	0.35232	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620204	0.46100	0	.	.	3.64	-7.27	0.01312	-0.098000	0.10993	-2.611000	0.03550	-1.148000	0.01430	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2722:0.6147:0.1131:0.0	11.798	0.51384	543	0.72751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1317.98	38	chr16	64948685	.	C	A	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=0.132;SOR=0.700	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1332,0,1520	20	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.647	P	0.378	B	0.000	D	1.000	D	1.84	L	0.84	T	-0.901	T	0.154	T	0.731	3.314	17.14	4.78	1.896	7.581	14.602	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	350.22	138	chr16	66823281	.	T	C	350.22	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.935e+00;DP=1576;ExcessHet=2.5830;FS=217.219;InbreedingCoeff=-0.2105;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.615;SOR=11.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,26:122:22:.:.:22,0,1776	13	0	7	1
chr16	67175090	67175090	C	G	exonic	NOL3	.	nonsynonymous SNV	NOL3:NM_001185057:exon4:c.C653G:p.A218G	Myoclonus, familial cortical, Autosomal dominant	.	7	1439	71	5	0	81	0.0273741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00239617	0.0037	0.0002	0.0008	0	0	0.0016	0.0045	0.0199	0.0031888	493	154602	rs201000974	0.0021	0.0021	0.0014	0.0027	0.0220	0.0020	0.0020	0.0212	0.0209	0.0001	0.0006	0.0117	2.519e-05	0	0.0140	0.0005	0.0027	0.0220	0.0013	0.0013	0.0010	0.0017	0.0197	0.0012	0.0011	0.0165	0.0153	2.404e-05	0	0.0016	0.0104	0	0	0.0068	0.0006	0.0024	0.0197	0.394	0.10694	T	0.417	0.14241	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	0	0.06538	N	.	.	.	-1.07	0.27876	N	0.052	0.02366	.	.	.	.	.	.	.	0.0031780005	0.00053	T	.	.	.	.	.	.	.	0.404315859256	0.40048	.	.	0.426604590348	0.43034	0.291245102882	0.09104	T	.	.	.	-0.513528	0.00479	T	-0.494168	0.22954	T	.	.	.	0.264874	0.04312	T	.	.	.	.	.	.	.	.	-3.213	0.12640	T	.	.	0.087	0.11124	B	.	.	1.441142	0.18608	13.83	0.66975076403872813	0.08217	0.10998	0.16338	N	AEFDGBHCI	0.103023	0.20652	N	.	.	.	.	.	.	0.999999942656462	0.74766	0.676563	0.55306	0	0.627608	0.54475	0	0.673471	0.61138	0	0.665054	0.64577	0	.	.	3.68	2.72	0.31179	0.395000	0.20576	0.209000	0.15940	-0.240000	0.07525	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.7805:0.2195:0.0	9.296	0.36978	45	0.97767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	34	chr16	67175090	.	C	G	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.800e-02;DP=836;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-9.260e-01;SOR=0.865	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1213,0,1012	20	0	1	0
chr16	67814372	67814372	C	T	exonic	TSNAXIP1	.	nonsynonymous SNV	TSNAXIP1:NM_001288990:exon2:c.C118T:p.R40C	.	.	423	1063	34	2	0	38	0.0175601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.003	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.007	T	0.066	T	0.058	1.714	11.69	-1.32	-0.185	0.091	3.487	0.031	.	.	0.00259585	0.0109	0.0072	0.0054	0	0	0.0075	0.0076	0.0133	0.001119	173	154602	rs548824636	0.0018	0.0017	0.0014	0.0023	0.0144	0.0018	0.0018	0.0137	0.0134	0.0002	0.0009	0.0116	5.597e-05	0	0.0135	0.0008	0.0027	0.0144	0.0014	0.0014	0.0011	0.0017	0.0130	0.0012	0.0012	0.0105	0.0095	0.0002	0	0.0007	0.0110	0	0	0.0102	0.0012	0.0024	0.0130	0.003	0.72154	D	0.012	0.79402	D	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.65	0.58085	N	0.128	0.12198	-1.0072	0.27789	T	0.066	0.27087	T	7	0.0036321282	0.00066	T	.	.	.	0.031	0.07369	0.243	0.17677	0.107399877778	0.10242	0.27228320694232	0.27141	.	.	.	.	.	.	.	.	-0.636742	0.00087	T	-0.675088	0.07286	T	0.00696711036585465	0.00079	T	0.756024	0.37907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.25495	B	.;.;.;.	.;.;.;.	1.434276	0.18528	13.79	0.92367587132288642	0.21773	0.04135	0.09617	N	AEFBI	0.079038	0.15958	N	-1.20080847553611	0.04989	0.2264046	-1.27139982614014	0.04822	0.2283614	0.938086030264572	0.27327	0.632932	0.41330	0	0.588066	0.40923	0	0.601832	0.32385	0	0.567892	0.33627	0	.	.	3.99	-1.32	0.08721	-0.058000	0.11707	-0.539000	0.08593	-0.861000	0.02628	0.136000	0.23442	0.000000	0.08366	0.358000	0.25841	0.1735:0.435:0.0:0.3915	3.487	0.07186	8	0.99202	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	616.98	34	chr16	67814372	.	C	T	616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=796;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.30;ReadPosRankSum=0.387;SOR=0.886	GT:AD:DP:GQ:PL	0/1:66,32:98:99:631,0,1442	20	0	1	0
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	0/1:116,11,0:127:99:113,0,4676,561,4834,5962	13	1	6	0
chr16	68231373	68231373	G	A	exonic	ESRP2	.	nonsynonymous SNV	ESRP2:NM_001365264:exon12:c.C1546T:p.R516W	.	.	421	1091	9	1	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.635	H	2.75	T	-0.652	T	0.137	T	0.94	4.213	21.9	4.84	1.450	9.807	15.051	0.612	0.0618514763516	.	.	6.597e-05	0	0	0	0	6.002e-05	0	0.0002	5.82e-05	9	154602	rs779561626	7.32e-05	7.319e-05	6.806e-05	7.838e-05	0.0026	6.181e-05	5.741e-05	0.0016	0.0013	0	2.237e-05	0	2.519e-05	1.873e-05	0.0026	5.306e-05	0.0002	0.0002	7.23e-05	7.224e-05	5.139e-05	9.42e-05	0.0004	3.972e-05	3.128e-05	7.287e-05	3.34e-05	2.413e-05	0	6.545e-05	0	0	0	0	0.0001	0	0.0004	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.755	0.95055	H	2.75	0.11622	T	-5.56	0.86296	D	0.874	0.87699	-0.6517	0.62640	T	0.137	0.45413	T	10	0.7972486	0.79181	D	0.061851	0.68466	D	0.612	0.84826	0.602	0.73346	0.623049990606	0.61998	0.7892021208604925	0.78872	1.04296655976	0.75860	0.898751854897	0.96301	D	0.460553	0.79769	T	0.065377	0.60282	T	0.156457	0.80588	D	0.955475211143494	0.64517	D	0.99585	0.98562	D	0.7757317	0.82392	0.6503969	0.79546	0.7757317	0.82394	0.6503969	0.79547	-14.803	0.95373	D	0.585350499516456	0.65214	0.628	0.70036	P	.;.	.;.	5.504258	0.91619	32	0.99911837971916095	0.98095	0.96198	0.67985	D	AEFBCI	0.939782	0.94084	D	0.956787738520894	0.94252	12.61468	0.874029858817748	0.94340	12.68385	0.999999999987432	0.74766	0.67177	0.52595	0	0.379588	0.06130	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.79	4.84	0.62125	9.940000	0.98890	8.643000	0.77902	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0683:0.0:0.9317:0.0	15.051	0.71530	12	0.98946	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	0.02381	769.98	33	chr16	68231373	.	G	A	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=806;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-3.035e+00;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,34:81:99:784,0,1044	20	0	1	0
chr16	70809809	70809809	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon85:c.C14857T:p.R4953W,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	1	1484	35	2	0	39	0.0129697	.	.	439047	Primary_ciliary_dyskinesia_5|not_provided	MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.975	D	0.010	U	1.000	D	2.48	M	5.48	T	-1.142	T	0.017	T	0.707	4.950	28.8	5.91	2.793	7.360	19.894	0.314	.	0.0024	0.00559105	0.0047	0.0013	0.0020	0.0050	0.0005	0.0037	0.0011	0.0147	0.0044113	682	154602	rs79607350	0.0041	0.0041	0.0037	0.0045	0.0153	0.0040	0.0040	0.0146	0.0144	0.0007	0.0019	0.0023	0.0027	0.0005	0.0087	0.0036	0.0049	0.0153	0.0027	0.0027	0.0025	0.0028	0.0166	0.0024	0.0024	0.0137	0.0126	0.0007	0	0.0024	0.0017	0.0050	0.0006	0.0068	0.0032	0.0009	0.0166	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	0.010398	0.29945	U	0.000000	0.999987	0.54805	D	2.985	0.85602	M	5.48	0.00939	T	-6.38	0.91100	D	0.682	0.68863	-1.1424	0.01271	T	0.017	0.07140	T	10	0.009678125	0.00218	T	.	.	.	0.314	0.63588	.	.	0.376921832658	0.37306	0.35705002463224933	0.35619	.	.	0.422626554966	0.28198	T	0.405612	0.76175	T	-0.279517	0.10718	T	-0.161959	0.58175	T	0.0577038513430154	0.06802	T	.	.	.	0.3764873	0.59061	0.42302984	0.66186	0.3764873	0.59062	0.42302984	0.66186	-7.477	0.57448	T	.	.	0.213	0.44161	B	.	.	4.498872	0.70345	25.5	0.99904976033344473	0.97576	0.95665	0.65638	D	AEFDBHCI	0.902605	0.85069	D	0.853943115342182	0.89332	9.928374	0.821114094472181	0.91222	10.77847	0.999999999999936	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.91	5.91	0.95240	7.474000	0.80024	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	19.894	0.96941	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1147.98	36	chr16	70809809	.	G	A	1147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.682;DP=807;ExcessHet=0.0000;FS=0.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-1.452e+00;SOR=0.595	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1162,0,1053	20	0	1	0
chr16	74411019	74411019	-	C	exonic	CLEC18B	.	frameshift insertion	CLEC18B:NM_001385195:exon8:c.759dupG:p.L254Afs*28	.	.	439	1072	11	0	0	11	0.00510441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0009	0.0001	9.259e-05	0	0	0.0003	0.0036	0.0051	0.0001537	4	26028	rs529381474	0.0003	0.0006	0.0003	0.0004	0.0049	0.0003	0.0003	0.0032	0.0027	2.996e-05	0.0002	0	0	0	0.0049	0.0001	0.0008	0.0031	9.858e-05	0.0003	0.0001	9.408e-05	0.0013	6.008e-05	4.881e-05	0.0005	0.0004	2.406e-05	0	0.0001	0	0	0	0	8.831e-05	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	799.94	34	chr16	74411019	.	G	GC	799.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.169e+00;DP=803;ExcessHet=0.0000;FS=2.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.33;MQRankSum=-5.950e-01;QD=20.00;ReadPosRankSum=0.741;SOR=0.719	GT:AD:DP:GQ:PL	0/1:15,25:40:99:814,0,441	20	0	1	0
chr16	79599202	79599204	CCG	-	exonic	MAF	.	nonframeshift deletion	MAF:NM_001031804:exon1:c.699_701del:p.G238del	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1146554	Cataract_21_multiple_types|Ayme-Gripp_syndrome|not_provided	MONDO:MONDO:0012437,MedGen:C1857768,OMIM:610202,Orphanet:91492|MONDO:MONDO:0010992,MedGen:C1832812,OMIM:601088|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1161669886	0.0009	0.0077	0.0009	0.0009	0.0019	0.0008	0.0008	0.0008	0.0008	0.0010	0.0009	0.0008	0.0008	0	0.0019	0.0009	0.0009	0.0012	2.779e-05	4.043e-05	0	5.724e-05	0.0002	9.49e-06	5.38e-06	.	.	2.511e-05	0	0	0	0.0002	0	0	1.531e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	136.05	8	chr16	79599201	.	TCCG	T	136.05	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.330e-01;DP=344;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.25;ReadPosRankSum=0.501;SOR=0.941	GT:AD:DP:GQ:PL	0/1:26,6:32:99:150,0,958	20	0	1	0
chr16	79599457	79599457	G	A	exonic	MAF	.	nonsynonymous SNV	MAF:NM_001031804:exon1:c.C446T:p.S149F	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.697	P	0.217	B	0.261	U	0.982	N	0.55	N	-4.44	D	0.252	D	0.753	D	0.129	-1.445	0.020	1.85	0.515	-0.232	6.045	0.292	0.974193008318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.68238	D	0.699	0.05767	T	0.662	0.41767	P	0.217	0.37636	B	0.260945	0.03708	U	1.742840	0.982388	0.24968	N	0.345	0.11182	N	-4.44	0.97515	D	-0.73	0.22294	N	0.338	0.41754	0.252	0.86773	D	0.753	0.91578	D	10	0.3508621	0.51948	T	0.974193	0.99850	D	0.292	0.61157	0.292	0.25400	0.795249392789	0.79334	0.4714483076817061	0.47063	.	.	0.949474453926	0.99739	D	0.200144	0.55764	T	0.0334081	0.56176	T	-0.189788	0.55610	T	0.14654719576492	0.16826	T	0.624837	0.24114	T	0.12932315	0.30209	0.15665963	0.36667	0.12932315	0.30209	0.15665963	0.36666	-6.293	0.48666	T	0.3377025740654611	0.43559	0.446	0.63248	A	.;.;.	.;.;.	2.873741	0.38005	20.6	0.14213069365501496	0.00306	0.35518	0.25320	N	AEFDBCI	0.174454	0.30158	N	-0.63611008188468	0.17867	0.9230689	-0.680891641953148	0.17439	0.9272835	0.999989265362801	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.83	1.85	0.24418	1.527000	0.35581	7.131000	0.57624	0.441000	0.21086	0.984000	0.35821	1.000000	0.68203	0.344000	0.25523	0.1108:0.0:0.7044:0.1848	6.045	0.18980	948	0.11499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	31	chr16	79599457	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-2.070e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1284,0,1304	20	0	1	0
chr16	81061439	81061439	G	T	exonic	C16orf46	.	nonsynonymous SNV	C16orf46:NM_001100873:exon3:c.C910A:p.L304M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.000	D	0.849	N	1.75	L	2.14	T	-1.029	T	0.096	T	0.599	2.344	13.80	4.52	2.596	2.095	7.073	0.117	0.0149655935811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000281	0.46590	D	0.000000	0.849471	0.28517	N	2.08	0.57402	M	2.14	0.19450	T	-2.0	0.46146	N	0.391	0.43223	-1.0286	0.20908	T	0.096	0.36107	T	10	0.30590248	0.48104	T	0.014966	0.35426	T	0.117	0.32689	0.323	0.30387	0.148003135375	0.14442	0.09508413179397772	0.09440	0.103124469384	0.11663	.	.	.	0.044255	0.26758	T	-0.0535268	0.43909	T	-0.314664	0.43157	T	0.944792091846466	0.62133	D	0.687731	0.29668	T	0.3958964	0.60447	0.26194072	0.51979	0.3958964	0.60448	0.26194072	0.51978	-5.646	0.43408	T	.	.	0.254	0.48887	B	.;.	.;.	3.113723	0.42013	21.5	0.99463188048261997	0.65892	0.79266	0.39246	D	AEFBI	0.148983	0.27298	N	0.475874018731854	0.65685	4.853643	0.414637318862741	0.62474	4.46362	0.996667912761987	0.34909	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.53	4.52	0.54797	2.264000	0.42959	4.519000	0.43679	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0902:0.1753:0.7345:0.0	7.073	0.24368	673	0.60677	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2491.98	135	chr16	81061439	.	G	T	2491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.700e-02;DP=1728;ExcessHet=0.0000;FS=2.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.32;ReadPosRankSum=-7.510e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,65:129:99:0|1:81061439_G_T:2506,0,2485:81061439	20	0	1	0
chr16	81061441	81061441	A	T	exonic	C16orf46	.	nonsynonymous SNV	C16orf46:NM_001100873:exon3:c.T908A:p.L303H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.875	P	0.446	N	0.972	N	1.65	L	2.38	T	-1.061	T	0.070	T	0.433	2.357	13.84	3.23	0.368	2.966	5.647	0.113	0.0161443380966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.875	0.62107	P	0.446118	0.12566	N	0.710974	0.971681	0.25640	N	1.895	0.50365	L	2.38	0.15843	T	-5.2	0.83695	D	0.585	0.60579	-1.0613	0.11434	T	0.070	0.28511	T	10	0.52032614	0.62605	D	0.016144	0.37248	T	0.113	0.31778	0.289	0.24921	0.128392430309	0.12331	0.30701032687120194	0.30614	0.0908555217513	0.10259	.	.	.	0.021368	0.16653	T	-0.113598	0.34176	T	-0.400952	0.33274	T	0.975932478904724	0.71155	D	0.635136	0.24942	T	0.4492165	0.63991	0.5627892	0.74700	0.4492165	0.63992	0.5627892	0.74700	-4.448	0.30203	T	.	.	0.195	0.45136	B	.;.	.;.	2.992933	0.39968	21.1	0.98298527981152239	0.40020	0.87853	0.47537	D	AEFBI	0.155168	0.28031	N	0.200946162962259	0.51245	3.307348	0.114827486015384	0.45305	2.796128	0.98336300462307	0.30547	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.53	3.23	0.36150	3.080000	0.49810	4.648000	0.44184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.7354:0.17:0.0946:0.0	5.647	0.16871	673	0.60677	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2491.98	135	chr16	81061441	.	A	T	2491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.224e+00;DP=1730;ExcessHet=0.0000;FS=2.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.32;ReadPosRankSum=-3.550e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,65:129:99:0|1:81061439_G_T:2506,0,2485:81061439	20	0	1	0
chr16	81156877	81156877	G	A	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8e-05	0.000199681	5.871e-05	0.0001	0	0	0	3.031e-05	0	0.0002	5.82e-05	9	154602	rs375515044	4.789e-05	4.788e-05	4.493e-05	5.089e-05	0.0002	3.86e-05	3.54e-05	0.0001	0.0001	0.0002	4.473e-05	0	7.557e-05	0	0	3.418e-05	6.626e-05	0.0002	6.566e-05	6.562e-05	5.139e-05	8.058e-05	0.0004	3.514e-05	2.614e-05	7.285e-05	3.046e-05	0.0001	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	721.98	35	chr16	81156877	.	G	A	721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.877;DP=926;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-1.349e+00;SOR=0.864	GT:AD:DP:GQ:PL	0/1:39,31:70:99:736,0,877	20	0	1	0
chr16	81179767	81179767	G	C	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon2:c.C83G:p.A28G	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.882	P	0.677	P	0.113	N	1.000	N	.	.	2.32	T	-1.008	T	0.078	T	0.287	1.663	11.52	0.31	0.177	0.103	6.354	0.022	0.0262516605847	.	.	0.0002	0	0.0005	0	0	0.0002	0.0011	6.063e-05	0.0001294	20	154602	rs200514929	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.767e-05	0.0001	0.0001	0	0.0002	3.826e-05	2.519e-05	0	0	0.0001	8.279e-05	1.159e-05	7.226e-05	7.219e-05	7.712e-05	6.718e-05	0.0002	3.97e-05	3.127e-05	4.765e-05	3.339e-05	2.408e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	0.882	0.48483	P	0.677	0.53365	P	0.113321	0.19321	N	0.521575	0.999959	0.19363	N	.	.	.	2.32	0.69777	T	-2.4	0.59710	N	0.319	0.43029	-1.0084	0.27416	T	0.078	0.31012	T	9	0.08502746	0.14311	T	0.026252	0.49171	D	0.060	0.17295	0.398	0.42590	0.31291088546	0.30898	.	.	7.02292563286E-4	0.00066	0.31681895256	0.12939	T	.	.	.	-0.307718	0.07951	T	-0.386305	0.34985	T	0.199112176895142	0.20367	T	0.634137	0.31835	T	.	.	.	.	.	.	.	.	-3.36	0.14990	T	.	.	0.113	0.28550	B	.;.;.	.;.;.	1.950264	0.24774	16.52	0.99181552073163814	0.54701	0.09083	0.14909	N	AEFBI	0.094092	0.19029	N	-0.682558437291637	0.16519	0.8423356	-0.793673334041623	0.14650	0.7665608	0.800126930643636	0.24171	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.02	0.31	0.15071	0.213000	0.17310	1.057000	0.23687	-0.119000	0.14319	0.152000	0.23684	0.475000	0.25072	0.034000	0.13613	0.5804:0.0:0.4196:0.0	6.354	0.20598	940	0.13648	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	900.98	35	chr16	81179767	.	G	C	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=843;ExcessHet=0.0000;FS=2.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=-1.063e+00;SOR=1.080	GT:AD:DP:GQ:PL	0/1:40,41:81:99:915,0,836	20	0	1	0
chr16	84170033	84170033	A	T	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_001318756:exon4:c.A497T:p.E166V	Ciliary dyskinesia, primary, 13, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	390185	not_specified|not_provided|Primary_ciliary_dyskinesia_13|Primary_ciliary_dyskinesia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.42	B	0.099	B	.	.	1.000	N	0.69	N	1.76	T	-1.047	T	0.046	T	0.138	0.867	8.513	0.495	-0.109	-0.203	3.175	0.004	0.00418844892986	0.0002	0.000399361	0.0002	0	8.639e-05	0	0	0.0003	0.0011	0.0001	0.000194	30	154602	rs144034147	0.0002	0.0002	0.0002	0.0003	0.0078	0.0002	0.0002	0.0060	0.0053	0.0002	0.0001	0	0	0	0.0078	0.0002	0.0004	8.116e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.735e-05	8.25e-05	9.047e-05	7.011e-05	0.0002	0	6.537e-05	0	0	0	0.0102	0.0002	0	0	0.229	0.18371	T	0.107	0.37730	T	0.025	0.19245	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.76	0.25996	T	-0.45	0.14782	N	0.084	0.06059	-1.0472	0.15188	T	0.046	0.19559	T	9	0.023021698	0.00591	T	0.004188	0.10089	T	0.004	0.00165	.	.	0.154104182512	0.14974	0.2278481962685289	0.22699	0.0234709133917	0.02381	0.279656559229	0.07444	T	0.012092	0.10690	T	-0.511076	0.00495	T	-0.675709	0.07248	T	0.0212065927291558	0.00822	T	0.409559	0.10569	T	0.06297476	0.13212	0.031021196	0.01634	0.06297476	0.13212	0.031021196	0.01634	-7.195	0.55445	T	.	.	0.121	0.25067	B	.	.	0.371090	0.07432	4.066	0.82785107948828141	0.14374	0.04592	0.10244	N	AEFBHI	0.067366	0.13238	N	-0.996148576383303	0.08685	0.4081874	-1.06213278813619	0.08455	0.4158453	0.961543103774874	0.28561	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.15	0.495	0.16098	-0.199000	0.09493	0.393000	0.17912	0.559000	0.28343	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6381:0.0:0.1669:0.1949	3.175	0.06174	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2521.98	36	chr16	84170033	.	A	T	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.572;DP=1389;ExcessHet=0.0000;FS=2.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=0.523;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,73:157:99:0|1:84170006_A_G:2536,0,2968:84170006	20	0	1	0
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	0/1:71,87,0:158:99:2025,0,1521,2236,1781,4017	11	2	7	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/5:87,0,3,0,0,14:104:99:254,544,3986,421,3787,3770,544,3986,3787,3986,544,3986,3787,3986,3986,0,3450,3222,3450,3450,3500	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/5:87,0,3,0,0,14:104:99:254,544,3986,421,3787,3770,544,3986,3787,3986,544,3986,3787,3986,3986,0,3450,3222,3450,3450,3500	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/5:87,0,3,0,0,14:104:99:254,544,3986,421,3787,3770,544,3986,3787,3986,544,3986,3787,3986,3986,0,3450,3222,3450,3450,3500	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/5:87,0,3,0,0,14:104:99:254,544,3986,421,3787,3770,544,3986,3787,3986,544,3986,3787,3986,3986,0,3450,3222,3450,3450,3500	4	4	6	0
chr16	87869301	87869301	C	T	exonic	SLC7A5	.	nonsynonymous SNV	SLC7A5:NM_003486:exon1:c.G122A:p.G41D,	.	.	385	1129	8	0	0	8	0.00353045	.	.	3195578	SLC7A5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.003	B	0.002	B	0.136	N	1.000	N	0	N	-2.84	D	-0.744	T	0.359	T	0.065	2.525	14.40	-0.423	0.479	0.410	5.288	0.075	0.226011066741	0.0010	0.000199681	0.0020	0.0006	0.0005	0.0021	0.0043	0.0020	0.0035	0.0026	0.0016041	248	154602	rs148183733	0.0019	0.0019	0.0019	0.0019	0.0030	0.0018	0.0018	0.0027	0.0026	2.993e-05	0.0007	3.833e-05	0.0007	0.0044	0.0015	0.0019	0.0014	0.0030	0.0015	0.0015	0.0012	0.0018	0.0019	0.0013	0.0012	0.0016	0.0015	0.0003	0	0.0014	0	0.0010	0.0040	0	0.0018	0.0024	0.0019	0.282	0.15406	T	0.407	0.14679	T	0.003	0.11197	B	0.002	0.06944	B	0.135638	0.18474	N	0.513877	1	0.08975	N	0	0.06538	N	-2.84	0.91305	D	0.27	0.04306	N	0.226	0.25377	-0.7439	0.58252	T	0.359	0.72108	T	10	0.0070702136	0.00161	T	0.226011	0.88024	D	0.075	0.21907	.	.	0.434470932917	0.43064	0.2413125635653737	0.24045	1.02087520744	0.75113	0.784105181694	0.79548	T	0.256103	0.62697	T	-0.436756	0.01351	T	-0.404449	0.32867	T	0.00130004484455822	0.00013	T	0.39776	0.10046	T	0.030461298	0.02715	0.044224683	0.05683	0.030461298	0.02714	0.044224683	0.05683	-4.942	0.36204	T	.	.	0.116	0.23290	B	.	.	1.521735	0.19533	14.31	0.94458193510445954	0.24894	0.79440	0.39364	D	ALL	0.153893	0.27883	N	-1.03498953478203	0.07885	0.3678321	-0.999012771929274	0.09808	0.4901037	0.999999999996218	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	3.02	-0.423	0.11710	0.918000	0.28299	0.882000	0.22403	0.429000	0.20894	0.511000	0.27041	0.966000	0.29516	0.031000	0.13245	0.0:0.4858:0.2757:0.2385	5.288	0.15020	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1802.98	33	chr16	87869301	.	C	T	1802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.916;DP=880;ExcessHet=0.0000;FS=1.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.875;SOR=0.546	GT:AD:DP:GQ:PL	0/1:91,75:166:99:1817,0,2244	20	0	1	0
chr16	88431891	88431891	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C4421T:p.A1474V,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1454	64	4	0	72	0.0241611	.	.	192287	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_specified|Ehlers-Danlos_syndrome|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.513	P	0.027	B	.	.	1.000	N	0.55	N	3.08	T	-0.955	T	0.011	T	0.118	1.593	11.28	2.7	0.383	1.024	3.017	0.043	.	.	0.00559105	0.0113	0.0019	0.0073	0	0.0294	0.0124	0.0109	0.0138	0.002542	393	154602	rs199897247	0.0081	0.0077	0.0076	0.0086	0.0314	0.0080	0.0079	0.0277	0.0262	0.0015	0.0053	0.0210	2.798e-05	0.0048	0.0314	0.0078	0.0088	0.0149	0.0066	0.0066	0.0065	0.0067	0.0157	0.0062	0.0061	0.0129	0.0119	0.0013	0	0.0068	0.0228	0	0.0038	0.0374	0.0091	0.0090	0.0157	0.228	0.18434	T	0.369	0.16522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.02	0.08986	T	-1.01	0.26639	N	0.085	0.06190	-0.9551	0.40078	T	0.011	0.04274	T	9	0.003430605	0.00060	T	.	.	.	0.043	0.11576	.	.	.	.	0.050505530543837704	0.04993	.	.	0.265331804752	0.05543	T	0.013903	0.11938	T	-0.670477	0.00055	T	-0.694891	0.06110	T	0.00365512448688516	0.00039	T	0.587141	0.21465	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32079	B	.;.	.;.	1.692541	0.21561	15.25	0.86204571369130123	0.16381	0.04496	0.10116	N	AEFBI	0.066037	0.12911	N	-0.733709411162593	0.15079	0.7567972	-0.785316965241292	0.14855	0.7783546	0.996168408527723	0.34566	0.764865	0.99124	0	0.547309	0.14657	0	0.731555	0.93304	0	0.604944	0.38103	0	.	.	4.7	2.7	0.31007	1.033000	0.29798	1.096000	0.24025	0.549000	0.26987	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.1464:0.5171:0.227:0.1096	3.017	0.05695	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	6008.11	101	chr16	88431891	.	C	T	6008.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.480e-01;DP=2159;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.241;SOR=0.661	GT:AD:DP:GQ:PL	0/1:42,58:100:99:1376,0,892	19	0	2	0
chr16	89919683	89919683	G	A	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.G425A:p.R142H,	.	.	0	1511	11	0	0	11	0.00362677	.	.	242565	not_provided|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MedGen:C3661900|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.001	U	1.000	D	4.11	H	-4.27	D	0.907	D	0.957	D	0.884	5.507	35	4.81	2.234	6.453	16.852	0.755	0.59575954153	0.0052	0.00279553	0.0050	0.0011	0.0079	0.0001	0.0012	0.0073	0.0056	0.0001	0.0049547	766	154602	rs11547464	0.0065	0.0064	0.0066	0.0063	0.0132	0.0063	0.0063	0.0108	0.0099	0.0009	0.0068	0.0177	2.52e-05	0.0013	0.0132	0.0072	0.0069	0.0002	0.0047	0.0047	0.0051	0.0043	0.0069	0.0044	0.0043	0.0064	0.0061	0.0014	0	0.0067	0.0181	0.0002	0.0004	0.0102	0.0069	0.0080	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001119	0.40219	U	0.000000	0.999999	0.58761	D	4.235	0.97980	H	-4.27	0.97101	D	-4.93	0.81755	D	0.958	0.96758	0.907	0.95776	D	0.957	0.98609	D	9	0.015277147	0.00321	T	0.59576	0.96424	D	0.755	0.91626	.	.	0.98089886461	0.98068	0.7838012175412242	0.78331	0.133499110863	0.15033	.	.	.	0.695796	0.91196	D	0.216927	0.75486	D	0.54255	0.95449	D	0.105501388884297	0.12951	T	0.864413	0.56163	D	0.8797992	0.89650	0.78236425	0.87174	0.8797992	0.89652	0.78236425	0.87174	-5.054	0.37420	T	0.8385628509914691	0.90762	0.358	0.57098	A	.;.;.;.	.;.;.;.	4.431103	0.68712	25.3	0.99953683858538223	0.99963	0.92772	0.56508	D	AEFDBHCI	0.861412	0.77948	D	0.871817625773533	0.90312	10.348	0.761132318009018	0.86986	9.068815	1.0	0.98316	0.635344	0.42169	0	0.610034	0.51514	0	0.654045	0.52621	0	0.567892	0.33627	0	.	.	4.81	4.81	0.61401	8.072000	0.89294	4.176000	0.42305	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	16.852	0.85864	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	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	0.02381	865.98	33	chr16	89919683	.	G	A	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.314;DP=961;ExcessHet=0.0000;FS=2.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.935;SOR=0.460	GT:AD:DP:GQ:PL	0/1:28,38:66:99:880,0,546	20	0	1	0
chr17	3277983	3277983	C	T	exonic	OR3A2	.	nonsynonymous SNV	OR3A2:NM_002551:exon1:c.G953A:p.R318K,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.001	B	0.005	B	0.354	N	1.000	N	-0.55	N	1.32	T	-1.024	T	0.029	T	0.096	1.578	11.23	-2.59	-0.355	-0.655	4.494	0.010	0.00166111512766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320266395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.09514	T	0.608	0.07741	T	0.001	0.07471	B	0.005	0.11217	B	0.354175	0.04264	N	1.592810	1	0.08975	N	0.125	0.08623	N	1.32	0.35219	T	0.0	0.07008	N	0.061	0.03283	-1.0238	0.22476	T	0.029	0.12673	T	10	0.054848403	0.05904	T	0.001661	0.02728	T	0.010	0.01040	0.385	0.40460	0.35421846163	0.35036	0.07896970793811726	0.07831	0.750165732153	0.63728	0.203065663576	0.00551	T	0.003799	0.03212	T	-0.342273	0.05232	T	-0.729428	0.04353	T	0.0339624235624875	0.02631	T	0.248275	0.03682	T	0.032090984	0.03170	0.033857483	0.02351	0.032090984	0.03170	0.033857483	0.02350	-3.142	0.11785	T	.	.	0.094	0.17103	B	.;.;.	.;.;.	-0.573181	0.01647	0.115	0.81755929819088313	0.13844	0.04393	0.09975	N	AEFBI	0.059620	0.11274	N	-1.41006336631396	0.02549	0.1127305	-1.41211352468416	0.03130	0.145415	3.59499275845796E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.25	-2.59	0.05847	-1.622000	0.02145	-10.766000	0.00667	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3012:0.2276:0.4712	4.494	0.11241	641	0.64016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	859.98	33	chr17	3277983	.	C	T	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=801;ExcessHet=0.0000;FS=0.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-1.239e+00;SOR=0.532	GT:AD:DP:GQ:PL	0/1:53,37:90:99:874,0,1205	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,141,0:142:99:1|1:4933907_ACCACCCCAGAGCCCAC_A:5628,423,0,5116,438,5183:4933907	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,141,0:142:99:1|1:4933907_ACCACCCCAGAGCCCAC_A:5628,423,0,5116,438,5183:4933907	0	10	6	1
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,63,2,3,0,0:68:81:3033,207,0,2567,117,2458,2671,81,2353,2561,2790,199,2476,2571,2690,2790,199,2476,2571,2690,2690	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,63,2,3,0,0:68:81:3033,207,0,2567,117,2458,2671,81,2353,2561,2790,199,2476,2571,2690,2790,199,2476,2571,2690,2690	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,63,2,3,0,0:68:81:3033,207,0,2567,117,2458,2671,81,2353,2561,2790,199,2476,2571,2690,2790,199,2476,2571,2690,2690	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,63,2,3,0,0:68:81:3033,207,0,2567,117,2458,2671,81,2353,2561,2790,199,2476,2571,2690,2790,199,2476,2571,2690,2690	0	14	0	0
chr17	8493777	8493779	CCT	-	exonic	MYH10	.	nonframeshift deletion	MYH10:NM_005964:exon30:c.4070_4072del:p.E1357del	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0006	0.0009	0.0010	0.0003	0.0015	0.0023	0.0071	0.0003842	10	26028	rs146612839	0.0001	0.0043	0.0001	8.887e-05	0.0004	8.995e-05	8.474e-05	0.0002	0.0002	0.0004	0.0003	0.0003	0.0002	0.0002	0	6.699e-05	6.698e-05	0.0003	0	6.572e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	50.94	39	chr17	8493776	.	GCCT	G	50.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.251e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=2.67;SOR=0.848	GT:AD:DP:GQ:PL	0/1:104,9:113:65:65,0,4282	20	0	1	0
chr17	10396456	10396456	T	C	splicing	MYH8	NM_002472:exon33:c.4529-2A>G	.	.	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.179	21.6	5.26	2.215	7.634	15.348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342326	0.85988	D	0.253951	0.85804	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.748678	0.93368	33	0.99429431675393021	0.64179	0.97499	0.75145	D	AEFBI	.	.	.	1.12626500785348	0.98591	18.72985	0.973135479473418	0.98036	17.285	0.999983080413043	0.51787	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.057018	0.00518	0	0.968889	0.71240	5.26	5.26	0.73479	7.852000	0.85247	7.813000	0.69496	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0:0.0:1.0	15.348	0.74064	62	0.97349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	630.98	33	chr17	10396456	.	T	C	630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.708e+00;DP=764;ExcessHet=0.0000;FS=1.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=0.177;SOR=0.805	GT:AD:DP:GQ:PL	0/1:40,33:73:99:645,0,1047	20	0	1	0
chr17	11769290	11769290	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon38:c.G7513A:p.V2505M,	.	.	.	.	.	.	.	.	.	.	.	1881216	not_provided|Ciliary_dyskinesia,_primary,_40	MedGen:CN517202|MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	1.885	L	0.76	T	-0.585	T	0.256	T	0.585	4.219	21.9	4.42	2.696	6.624	15.044	0.258	0.0218419782163	.	.	.	.	.	.	.	.	.	.	.	.	.	rs61744697	2.532e-05	2.668e-05	2.587e-05	2.476e-05	3.058e-05	1.868e-05	1.631e-05	2.201e-05	1.942e-05	0	2.238e-05	0	0	0	0	3.058e-05	3.312e-05	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.983	0.75793	D	0.000045	0.53742	D	0.072443	0.999383	0.46865	D	2.25	0.63811	M	0.76	0.49919	T	-2.67	0.57599	D	0.769	0.76666	-0.5845	0.65439	T	0.256	0.62654	T	10	0.7352324	0.74574	D	0.021842	0.44662	T	0.258	0.56959	.	.	0.774474433012	0.77239	0.3179891463867298	0.31711	0.347852433776	0.36664	0.746689200401	0.73958	T	0.075061	0.35088	T	-0.0657462	0.42004	T	-0.249351	0.49880	T	0.984724402427673	0.75940	D	0.962504	0.85970	D	0.5966305	0.72510	0.6325674	0.78560	0.5966305	0.72511	0.6325674	0.78561	-8.182	0.62303	D	.	.	0.431	0.61224	A	.;.	.;.	4.649747	0.74108	26.1	0.99897938953681575	0.97048	0.98265	0.81073	D	AEFBI	0.792719	0.72093	D	0.755908847488631	0.83290	7.978672	0.73215705160511	0.84821	8.399915	0.028323419212433	0.13824	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	4.42	0.52775	6.844000	0.75184	5.773000	0.49755	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0722:0.0:0.9278:0.0	15.044	0.71475	837	0.37933	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	8001.18	33	chr17	11769290	.	G	A,T	8001.18	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.81;DP=1102;ExcessHet=0.0082;FS=1.185;InbreedingCoeff=0.4474;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=0.478;SOR=0.568	GT:AD:DP:GQ:PL	0/2:43,0,50:93:99:1255,1384,2548,0,1164,1015	18	0	0	0
chr17	14235978	14235978	T	C	exonic	CDRT15	.	nonsynonymous SNV	CDRT15:NM_001007530:exon3:c.A445G:p.R149G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.597	P	0.291	B	.	.	1.000	N	-0.46	N	0.43	T	-1.032	T	0.056	T	0.159	-1.107	0.136	.	0.103	0.126	.	0.150	0.00393932043513	.	.	0.0004	0.0004	0.0032	0.0001	0	0.0002	0	0	3.84e-05	1	26028	rs772338692	6.604e-05	0.0011	7.25e-05	5.949e-05	0.0009	5.525e-05	5.135e-05	0.0007	0.0006	0.0003	0.0009	0	0.0001	3.763e-05	0	2.796e-05	3.33e-05	7.063e-05	0.0020	0.0092	0.0019	0.0020	0.0071	0.0018	0.0017	0.0060	0.0056	0.0032	0	0.0071	0	0.0014	0	0	0.0006	0.0005	0.0019	0.578	0.18691	T	0.581	0.11691	T	0.597	0.39250	P	0.291	0.40706	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	0.43	0.56772	T	-1.27	0.31981	N	0.163	0.22998	-1.0320	0.19809	T	0.056	0.23639	T	7	0.014778286	0.00310	T	0.003939	0.09305	T	0.150	0.39571	.	.	0.227934060464	0.22382	0.04312403573495309	0.04257	1.1695270968	0.79722	0.476071715355	0.35517	T	0.004688	0.04103	T	-0.202032	0.20510	T	-0.527981	0.19489	T	0.0282380256716595	0.01724	T	0.422258	0.11242	T	0.087589234	0.20401	0.18627797	0.41790	0.087589234	0.20401	0.18627797	0.41790	-4.436	0.30042	T	.	.	0.106	0.19679	B	.;.	.;.	0.697565	0.10662	7.361	0.29491214305231078	0.01567	0.00189	0.01098	N	AEFDI	0.041987	0.06457	N	-1.16329166398145	0.05565	0.2540033	-1.29488751292351	0.04499	0.2123624	1.09839826763181E-6	0.01202	0.562547	0.31514	0	0.653731	0.59785	0	0.536957	0.11973	0	0.567892	0.33627	0	.	.	.	.	.	0.194000	0.16941	-3.402000	0.02814	0.168000	0.17747	0.032000	0.20554	0.000000	0.08366	0.049000	0.15107	.	.	.	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	187.98	49	chr17	14235978	.	T	C	187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=806;ExcessHet=0.0000;FS=11.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.79;MQRankSum=-3.844e+00;QD=2.72;ReadPosRankSum=0.470;SOR=1.681	GT:AD:DP:GQ:PL	0/1:55,14:69:99:202,0,1244	20	0	1	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	0/1:45,46,0:91:99:1733,0,1733,1870,1871,3741	5	7	8	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,6,47:108:99:.:.:1617,1629,3964,0,1890,1986	12	0	7	0
chr17	19020339	19020339	C	A	exonic	SLC5A10	.	nonsynonymous SNV	SLC5A10:NM_001270648:exon14:c.C1618A:p.P540T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.003	B	0.033	N	1.000	N	-0.815	N	-2.05	D	-0.565	T	0.375	T	0.235	0.736	7.911	0.165	-0.007	-0.406	5.202	0.273	0.124582608534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.18889	T	0.549	0.13252	T	0.001	0.07471	B	0.003	0.08700	B	0.033321	0.01769	N	1.847350	1	0.08975	N	1.65	0.42232	L	-2.63	0.90083	D	-0.62	0.31576	N	0.058	0.06190	-0.5645	0.66231	T	0.375	0.73295	T	10	0.06786239	0.09515	T	0.124583	0.80596	D	0.273	0.58883	0.26	0.20315	0.141422826196	0.13715	0.20572020954116207	0.20489	0.232667105056	0.25802	0.306960403919	0.11447	T	0.024068	0.18256	T	-0.00326333	0.51204	T	-0.242464	0.50558	T	0.224488452076912	0.21686	T	0.744526	0.36463	T	0.04788887	0.08261	0.06378925	0.12688	0.04788887	0.08261	0.06378925	0.12688	-4.632	0.32683	T	.	.	0.061	0.01715	B	.;.;.;.;.	.;.;.;.;.	0.113258	0.05123	1.651	0.74822744499419325	0.10840	0.19966	0.20864	N	AEFDBHCI	0.098295	0.19811	N	-1.36834022501454	0.02940	0.1305592	-1.32213845803655	0.04145	0.1948962	0.0038942988141265	0.10327	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.727631	0.95156	0	.	.	4.62	0.165	0.14282	-0.159000	0.10043	0.234000	0.16225	-0.186000	0.09761	0.000000	0.06391	0.002000	0.18203	0.147000	0.20199	0.0:0.3911:0.257:0.3519	5.202	0.14593	809	0.43032	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1106.98	38	chr17	19020339	.	C	A	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.620e-01;DP=828;ExcessHet=0.0000;FS=4.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-1.700e-01;SOR=0.900	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1121,0,1297	20	0	1	0
chr17	28561545	28561545	G	A	exonic	PIGS	.	nonsynonymous SNV	PIGS:NM_033198:exon6:c.C553T:p.R185C,	.	.	433	1085	4	0	0	4	0.00183993	.	.	1326237	PIGS-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.998	D	0.863	P	0.005	N	0.991	N	2.015	M	0.88	T	-0.946	T	0.137	T	0.571	3.724	18.91	4.17	1.486	2.701	8.859	0.233	.	0.0042	0.00119808	0.0056	0.0006	0.0124	0.0006	0.0076	0.0065	0.0011	0.0024	0.0050581	782	154602	rs143746801	0.0053	0.0053	0.0055	0.0052	0.0087	0.0052	0.0052	0.0080	0.0077	0.0009	0.0087	0.0028	0.0004	0.0072	0.0005	0.0058	0.0041	0.0026	0.0035	0.0035	0.0038	0.0032	0.0054	0.0033	0.0032	0.0049	0.0048	0.0010	0	0.0033	0.0023	0	0.0053	0	0.0054	0.0014	0.0027	0.001	0.78490	D	0.128	0.35082	T	0.998	0.73220	D	0.785	0.61398	P	0.004622	0.33547	N	0.337870	0.991442	0.24033	N	2.395	0.69210	M	0.88	0.46028	T	-3.14	0.64019	D	0.721	0.72299	-0.9462	0.41615	T	0.137	0.45318	T	10	0.012041628	0.00260	T	.	.	.	0.233	0.53499	.	.	0.618427470952	0.61534	0.544840223362874	0.54410	0.730018590898	0.62692	0.419381976128	0.27752	T	0.117479	0.43759	T	-0.369236	0.03633	T	-0.295197	0.45229	T	0.02401332180891	0.01147	T	0.913709	0.69301	D	0.19134527	0.40757	0.12873319	0.30967	0.18400383	0.39694	0.13335596	0.31978	-4.803	0.34708	T	0.3825013218402435	0.47673	0.270	0.50426	B	.;.	.;.	4.902244	0.80590	27.4	0.99912642780067473	0.98167	0.55276	0.29823	D	AEFBI	0.329218	0.42963	N	0.311424033798745	0.56734	3.838671	0.224440782793481	0.51206	3.305241	0.0694970794657498	0.15492	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.14	4.17	0.48303	2.107000	0.41468	8.320000	0.76961	0.672000	0.70159	0.248000	0.24829	1.000000	0.68203	0.993000	0.69303	0.0773:0.0:0.7737:0.149	8.859	0.34403	320	0.86992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	33	chr17	28561545	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=828;ExcessHet=0.0000;FS=2.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=-1.256e+00;SOR=0.853	GT:AD:DP:GQ:PL	0/1:91,59:150:99:1284,0,1984	20	0	1	0
chr17	28717219	28717219	C	T	exonic	RAB34	.	nonsynonymous SNV	RAB34:NM_001256281:exon1:c.G490A:p.A164T,	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.674	T	0.128	T	.	1.775	11.90	5.16	2.551	1.822	15.723	0.126	.	0.0039	0.00638978	0.0130	0.0016	0.0442	0.0144	0.0189	0.0103	0.0071	0.0029	0.0079818	1234	154602	rs143463372	0.0067	0.0068	0.0070	0.0065	0.0298	0.0066	0.0066	0.0285	0.0279	0.0011	0.0298	0.0028	0.0143	0.0103	0.0009	0.0060	0.0060	0.0028	0.0065	0.0065	0.0063	0.0066	0.0225	0.0061	0.0060	0.0205	0.0197	0.0017	0	0.0225	0.0023	0.0110	0.0088	0	0.0056	0.0047	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005341023	0.00117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006359	0.32963	T	.	.	.	.	.	.	.	.	.	0.574243	0.20591	T	.	.	.	.	.	.	.	.	-5.536	0.42204	T	.	.	0.095	0.15025	B	.;.;.;.	.;.;.;.	1.397877	0.18117	13.56	0.96660925434757006	0.30625	0.72993	0.35712	D	ALL	0.019016	0.00623	N	0.269360541631356	0.54602	3.625455	0.342495939695724	0.58056	3.974143	0.999999999999547	0.74766	0.733237	0.96898	0	0.587265	0.34161	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	5.16	5.16	0.70563	1.338000	0.33478	3.187000	0.36685	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.723	0.77494	137	0.94565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	821.98	20	chr17	28717219	.	C	T	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.885;DP=715;ExcessHet=0.0000;FS=3.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=0.169;SOR=1.141	GT:AD:DP:GQ:PL	0/1:49,36:85:99:836,0,1143	20	0	1	0
chr17	35101332	35101332	C	T	exonic	RAD51D	.	nonsynonymous SNV	RAD51D:NM_133629:exon6:c.G436A:p.G146R	.	.	.	.	.	.	.	.	.	.	.	184816	not_provided|Hereditary_cancer-predisposing_syndrome|Breast-ovarian_cancer,_familial,_susceptibility_to,_4|Malignant_tumor_of_breast	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013669,MedGen:C3280345,OMIM:614291,Orphanet:145|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.901	P	0.303	B	0.000	N	1.000	D	1.39	L	1.07	T	-0.916	T	0.155	T	0.191	1.332	10.37	2.86	0.751	3.145	8.839	0.104	0.053981621464	.	0.000399361	4.951e-05	9.649e-05	0	0	0	3.002e-05	0	0.0002	5.17e-05	8	154602	rs181695922	2.668e-05	2.668e-05	1.497e-05	3.85e-05	0.0003	1.997e-05	1.754e-05	0.0002	0.0002	0	0	0	0	0	0	8.093e-06	6.623e-05	0.0003	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.144	0.25255	T	0.088	0.43531	T	0.819	0.49677	P	0.303	0.41149	B	0.000034	0.55875	N	0.159732	0.99765	0.44071	D	1.99	0.53851	M	-0.07	0.63738	T	-5.11	0.83092	D	0.423	0.48689	-0.9159	0.46103	T	0.155	0.48550	T	10	0.10922873	0.20367	T	0.053982	0.65682	D	0.104	0.29647	0.497	0.58678	0.471372864162	0.46764	0.6626457633013113	0.66201	0.424303151291	0.42865	.	.	.	0.301988	0.67441	T	-0.330863	0.06047	T	-0.412715	0.31912	T	0.315674990415573	0.25645	T	0.777022	0.40965	T	0.25588295	0.48625	0.27082235	0.52977	0.25588295	0.48624	0.27082235	0.52976	-9.733	0.72297	D	0.3399321288650491	0.43771	0.278	0.51156	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.009657	0.40247	21.1	0.91600522304075149	0.20883	0.80141	0.39858	D	AEFDBI	0.157884	0.28346	N	-0.329060220079704	0.28049	1.54389	-0.322541511361205	0.27372	1.518384	0.0352333975520258	0.14191	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.86	2.86	0.32427	2.421000	0.44343	3.903000	0.40362	-0.171000	0.11205	0.789000	0.29582	0.999000	0.35428	0.381000	0.26357	0.0:0.8131:0.0:0.1869	8.839	0.34292	911	0.21964	.;.;.;DNA recombination and repair protein Rad51-like, C-terminal|AAA+ ATPase domain|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|AAA+ ATPase domain|Rad51/DMC1/RadA;.;.;DNA recombination and repair protein Rad51-like, 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	1	0	0	0	0	0	0	0.02381	1161.98	33	chr17	35101332	.	C	T	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.450;DP=812;ExcessHet=0.0000;FS=2.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-6.000e-03;SOR=0.545	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1176,0,1323	20	0	1	0
chr17	35193947	35193947	C	T	exonic	SLC35G3	.	nonsynonymous SNV	SLC35G3:NM_152462:exon1:c.G361A:p.A121T,	.	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.955	P	0.698	P	0.000	D	0.545	D	0.805	L	-1.1	T	-0.539	T	0.290	T	0.131	2.418	14.04	.	0.064	2.497	2.836	0.308	.	7.7e-05	0.00139776	0.0017	9.612e-05	0.0002	0.0001	0.0003	0.0004	0.0055	0.0105	0.0013907	215	154602	rs369083234	0.0009	0.0009	0.0005	0.0013	0.0114	0.0008	0.0008	0.0108	0.0106	5.975e-05	4.473e-05	0.0001	5.038e-05	0.0002	0.0035	0.0002	0.0011	0.0114	0.0005	0.0005	0.0002	0.0007	0.0093	0.0004	0.0003	0.0072	0.0064	0	0	0.0001	0	0.0002	0	0	0.0003	0.0005	0.0093	0.007	0.59928	D	0.023	0.57104	D	0.955	0.54515	P	0.698	0.54098	P	0.000229	0.47286	D	0.000000	0.544808	0.32084	D	1.79	0.46772	L	-1.1	0.77336	T	-1.54	0.37375	N	0.116	0.10483	-0.5393	0.67189	T	0.290	0.66201	T	9	0.011025786	0.00243	T	.	.	.	0.308	0.62947	.	.	0.671645247499	0.66887	0.5510402047279102	0.55030	0.44787081449	0.44639	0.494213670492	0.38024	T	0.037995	0.24681	T	-0.442901	0.01243	T	-0.399578	0.33432	T	0.0881991596123175	0.11002	T	0.79482	0.43725	T	0.0939453	0.22076	0.11235517	0.27110	0.0939453	0.22075	0.11235517	0.27109	-7.82	0.59837	D	.	.	0.131	0.28116	B	.	.	2.891714	0.38301	20.7	0.987620623018863	0.45831	0.08612	0.14517	N	AEFI	0.080430	0.16261	N	-0.404565427932355	0.25309	1.372915	-0.602053304007781	0.19440	1.043019	1.87457985573571E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	.	.	.	2.233000	0.42672	4.864000	0.45499	0.088000	0.17592	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.4983:0.5012:2.0E-4:3.0E-4	2.836	0.05174	919	0.19497	EamA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6968.11	36	chr17	35193947	.	C	T	6968.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.440e-01;DP=1303;ExcessHet=0.1072;FS=1.097;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.25;MQRankSum=0.621;QD=11.97;ReadPosRankSum=0.442;SOR=0.811	GT:AD:DP:GQ:PL	0/1:79,79:158:99:1783,0,1822	19	0	2	0
chr17	35998305	35998305	T	A	exonic	CCL15	.	nonsynonymous SNV	CCL15:NM_032965:exon3:c.A223T:p.S75C,	.	.	423	1085	14	0	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.973	D	0.013	N	0.977	N	3.15	M	3.25	T	-1.054	T	0.073	T	0.278	2.951	15.84	3.47	0.889	0.326	6.229	0.041	0.00318906388844	0.0002	0.00159744	0.0011	9.903e-05	8.959e-05	0.0002	0	0.0004	0	0.0062	0.0009961	154	154602	rs143211795	0.0006	0.0006	0.0005	0.0008	0.0064	0.0006	0.0006	0.0060	0.0058	8.961e-05	0.0002	0	5.038e-05	0	0.0043	0.0002	0.0011	0.0064	0.0005	0.0005	0.0004	0.0005	0.0066	0.0004	0.0004	0.0048	0.0042	7.212e-05	0.0044	0.0007	0	0	0	0	0.0003	0.0019	0.0066	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.013138	0.28942	N	0.318896	0.976693	0.25358	N	.	.	.	.	.	.	.	.	.	0.374	0.41557	-1.0545	0.13172	T	0.073	0.29419	T	10	0.00704509	0.00160	T	0.003189	0.06996	T	.	.	.	.	0.507628581994	0.50403	0.23880766748063578	0.23794	.	.	0.292410135269	0.09274	T	.	.	.	-0.433249	0.01417	T	-0.392358	0.34276	T	0.0884659804849433	0.11033	T	0.892211	0.62852	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.65359	A	.	.	2.015607	0.25613	16.83	0.98351582615777566	0.40547	0.08384	0.14320	N	AEFGBI	0.341709	0.43810	N	0.0561639995524384	0.44426	2.716922	-0.19972960632193	0.31548	1.786348	0.0227841104908841	0.13457	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.567339	0.31927	0	.	.	4.55	3.47	0.38831	0.205000	0.17154	-1.298000	0.05782	0.665000	0.62972	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	0.0:0.1163:0.0:0.8837	6.229	0.19937	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	730.98	35	chr17	35998305	.	T	A	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=-2.058e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/1:40,32:72:99:745,0,933	20	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:34,49:83:99:685,0,210	0	0	21	0
chr17	38466480	38466480	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon7:c.C797T:p.T266M,	.	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.83	P	.	.	1.000	N	1.04	L	2.68	T	-1.057	T	0.033	T	0.109	1.229	9.986	-1.94	-0.560	-0.038	3.727	0.093	.	.	0.00339457	0.0019	0.0142	0	0	0	0.0008	0	0	0.0003234	50	154602	rs182646905	0.0004	0.0004	0.0004	0.0003	0.0119	0.0004	0.0003	0.0109	0.0105	0.0119	0.0003	0.0013	2.82e-05	0	0	4.69e-05	0.0008	9.211e-05	0.0033	0.0033	0.0035	0.0031	0.0116	0.0031	0.0030	0.0108	0.0104	0.0116	0	0.0008	0.0009	0	0	0	7.351e-05	0.0014	0.0002	.	.	.	0.031	0.53788	D	0.047	0.73220	B	0.007	0.59611	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	.	.	.	.	.	.	0.136	0.13341	-1.0569	0.12543	T	0.033	0.14117	T	9	0.0044676363	0.00092	T	.	.	.	.	.	.	.	0.141422826196	0.13715	0.3961543504915006	0.39530	.	.	0.618238091469	0.55481	T	0.009287	0.08464	T	-0.576429	0.00203	T	-0.5891	0.13743	T	0.0368544102928004	0.03130	T	.	.	.	0.015019403	0.00118	0.071719505	0.15391	0.015019403	0.00118	0.071719505	0.15391	-5.88	0.45264	T	.	.	0.074	0.09578	B	.;.	.;.	0.802189	0.11727	8.306	0.97791065990055859	0.36001	0.09525	0.15261	N	AEFDBI	0.062034	0.11900	N	-0.778600002803528	0.13869	0.6864258	-0.889638687067064	0.12338	0.6341119	0.99996512055355	0.48965	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.97	-1.94	0.07158	-0.208000	0.09375	-2.579000	0.03586	-2.014000	0.00440	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.2659:0.3947:0.0:0.3394	3.727	0.08005	114	0.95383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1757.98	41	chr17	38466480	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1066;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.581;SOR=0.657	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1772,0,1264	20	0	1	0
chr17	38467128	38467128	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon7:c.C1445T:p.A482V,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.165	B	0.024	B	0.990	N	1.000	N	0	N	2.85	T	-0.987	T	0.013	T	0.013	-0.295	2.593	2.19	0.426	1.648	13.949	0.115	.	.	0.00339457	0.0010	0.0108	0	0	0	0	0	0.0001	0.0002911	45	154602	rs140587590	0.0003	0.0003	0.0004	0.0003	0.0119	0.0003	0.0003	0.0109	0.0105	0.0119	0.0003	0	0	0	0	3.709e-06	0.0007	0.0001	0.0033	0.0033	0.0035	0.0031	0.0116	0.0031	0.0030	0.0108	0.0104	0.0116	0	0.0008	0	0	0	0	4.41e-05	0.0014	0	.	.	.	0.482	0.11829	T	0.154	0.28508	B	0.01	0.20255	B	0.989931	0.08037	N	0.994614	1	0.08975	N	0.69	0.16971	N	.	.	.	.	.	.	0.039	0.01274	-0.9871	0.33323	T	0.013	0.05273	T	10	0.003725022	0.00069	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.17612525119399688	0.17531	.	.	0.347442597151	0.17544	T	8.0E-4	0.00390	T	-0.681042	0.00047	T	-0.73937	0.03917	T	0.00665379673231962	0.00075	T	.	.	.	0.011371627	0.00016	0.041707546	0.04802	0.011371627	0.00016	0.041707546	0.04802	-4.889	0.35611	T	.	.	0.069	0.05317	B	.;.	.;.	0.353905	0.07267	3.872	0.85846110004164478	0.16149	0.26833	0.23106	N	AEFDBI	0.110922	0.21979	N	-1.47264962173548	0.02045	0.08988614	-1.42863604072024	0.02969	0.1376173	0.999967956288903	0.48965	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.22	2.19	0.26890	0.695000	0.25205	-0.450000	0.09105	-2.046000	0.00421	0.234000	0.24685	0.000000	0.08366	0.001000	0.02609	0.0:0.9125:0.0:0.0875	13.949	0.63613	115	0.95340	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1224.98	44	chr17	38467128	.	C	T	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=1078;ExcessHet=0.0000;FS=1.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.27;SOR=0.549	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1239,0,1302	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,26,0:239:99:0|1:41041286_G_T:440,0,8416,1081,8494,9575:41041286	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:216,0,26:242:99:0|1:41041286_G_T:431,1081,9637,0,8556,8478:41041286	10	0	1	1
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	2496.32	253	chr17	41041341	.	G	T,*	2496.32	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.535;DP=3198;ExcessHet=3.5521;FS=0.766;InbreedingCoeff=-0.2364;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.31;MQRankSum=-1.146e+01;QD=1.14;ReadPosRankSum=-1.843e+00;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,24,0:203:99:0|1:41041341_G_T:277,0,6886,816,6958,7774:41041341	13	0	7	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1230.28	61	chr17	41041366	.	A	T,*	1230.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-9.070e-01;DP=2214;ExcessHet=1.1607;FS=0.710;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=59.30;MQRankSum=-1.005e+01;QD=1.00;ReadPosRankSum=-4.637e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,15,0:183:99:0|1:41041341_G_T:113,0,6586,604,6631,7235:41041341	16	0	4	0
chr17	41379113	41379113	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.G1066A:p.V356M,	.	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.024	B	0.062	B	0.009	N	0.985	N	-1.135	N	.	.	-0.984	T	0.006	T	0.157	-1.793	0.010	0.759	0.272	-1.954	4.095	0.024	.	.	0.00579073	0.0024	0	8.637e-05	0.0302	0	0.0002	0.0011	0.0011	0.0022251	344	154602	rs148645199	0.0009	0.0009	0.0010	0.0009	0.0276	0.0009	0.0009	0.0262	0.0257	0	4.472e-05	0.0031	0.0276	0	0.0002	1.888e-05	0.0013	0.0010	0.0010	0.0010	0.0010	0.0010	0.0257	0.0009	0.0008	0.0221	0.0208	0	0	0	0.0029	0.0257	0	0	4.41e-05	0	0.0012	.	.	.	0.555	0.09267	T	0.024	0.19075	B	0.062	0.26930	B	0.009278	0.30438	N	0.234157	0.985026	0.24748	N	-0.95	0.01262	N	-2.48	0.89071	D	.	.	.	0.229	0.25745	-0.9838	0.34116	T	0.006	0.02206	T	9	0.008939803	0.00202	T	.	.	.	0.024	0.04979	.	.	0.255777322467	0.25185	0.10690974598968886	0.10620	0.0552089449468	0.06109	0.46092659235	0.33437	T	0.110092	0.42451	T	-0.449949	0.01130	T	-0.396784	0.33759	T	0.00646675409805137	0.00072	T	0.762924	0.38892	T	0.028923761	0.02306	0.04457378	0.05806	0.028923761	0.02306	0.04457378	0.05805	-5.001	0.36851	T	.	.	0.182	0.39477	B	.	.	-1.250542	0.00482	0.010	0.073145266585711813	0.00039	0.10519	0.16003	N	AEFDGBI	0.054249	0.09847	N	-1.38998069614707	0.02731	0.1210226	-1.24328460578461	0.05231	0.248761	0.00949678406048289	0.11864	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.759	0.17584	-1.510000	0.02366	-15.051000	0.00374	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.1592:0.4544:0.0:0.3864	4.095	0.09460	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5949.11	33	chr17	41379113	.	C	T	5949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.070e-01;DP=1182;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.87;MQRankSum=-9.700e-01;QD=11.80;ReadPosRankSum=1.53;SOR=0.590	GT:AD:DP:GQ:PL	0/1:76,63:139:99:1358,0,1828	19	0	2	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.976	D	0.556	P	.	.	0.999	D	0	N	.	.	-1.043	T	0.078	T	0.65	0.858	8.471	5.17	2.241	1.916	5.942	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	515.5	33	chr17	41382308	.	A	G	515.5	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.707e+00;DP=1692;ExcessHet=2.5830;FS=114.231;InbreedingCoeff=-0.1984;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=0.774;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,15:100:44:0|1:41382308_A_G:44,0,3241:41382308	14	0	7	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.049	B	0.026	B	.	.	0.998	N	0	N	.	.	-1.026	T	0.039	T	0.473	0.716	7.813	-0.174	0.122	-0.215	4.436	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,15,0:99:47:0|1:41382308_A_G:47,0,3240,299,3284,3584:41382308	14	0	5	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.031	T	0.039	T	0.176	1.278	10.17	-0.174	0.122	-0.215	4.436	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,15,0:99:47:0|1:41382308_A_G:47,0,3240,299,3284,3584:41382308	14	0	5	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.682	P	0.142	B	.	.	0.996	N	0	N	.	.	-1.079	T	0.031	T	0.258	1.036	9.231	4.2	1.489	1.219	9.384	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	263.85	46	chr17	41382313	.	C	G,T	263.85	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-5.135e+00;DP=1402;ExcessHet=1.1607;FS=111.246;InbreedingCoeff=-0.1348;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.938;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,15,0:97:53:0|1:41382308_A_G:53,0,3197,299,3241,3540:41382308	16	0	3	0
chr17	41477198	41477198	G	A	exonic	KRT35	.	nonsynonymous SNV	KRT35:NM_002280:exon7:c.C1226T:p.P409L,	.	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.015	B	0.027	B	0.000	N	1.000	D	2.775	M	-1.48	T	-0.108	T	0.515	D	0.667	1.488	10.92	5.41	2.816	4.981	14.573	0.400	0.0561815721981	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762590390	7.53e-06	7.525e-06	4.086e-06	1.101e-05	0.0002	4.04e-06	2.95e-06	3.86e-06	1.44e-06	0	0	0	0	0	0.0002	4.498e-06	4.969e-05	2.324e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.021	0.49117	D	0.032	0.53426	D	0.015	0.17086	B	0.027	0.21085	B	0.000479	0.44119	N	0.102199	0.999914	0.51042	D	2.14	0.59869	M	-1.54	0.81640	D	-8.9	0.98054	D	0.485	0.57518	-0.1078	0.79920	T	0.515	0.81806	D	10	0.4245867	0.57089	T	0.056182	0.66511	D	0.400	0.71401	0.297	0.26202	0.610337921889	0.60720	0.659121080801462	0.65849	0.0980019385645	0.11061	0.537782371044	0.44132	T	0.080749	0.44343	T	0.133547	0.67705	D	-0.0459458	0.67298	D	0.989798784255981	0.80014	D	0.807119	0.45664	T	0.26564583	0.49633	0.30332753	0.56363	0.26564583	0.49633	0.30332753	0.56362	-10.059	0.74264	D	.	.	0.139	0.46688	B	.;.	.;.	3.175396	0.43079	21.7	0.98299816175521004	0.40030	0.92332	0.55467	D	AEFDBI	0.331779	0.43139	N	0.0491871042414706	0.44105	2.690676	0.102554829560906	0.44679	2.744989	0.646330947971343	0.22110	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.41	5.41	0.78313	3.949000	0.56377	8.209000	0.76813	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0:0.0:1.0:0.0	14.573	0.67817	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	978.98	36	chr17	41477198	.	G	A	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.431e+00;DP=908;ExcessHet=0.0000;FS=3.773;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=0.121;SOR=0.390	GT:AD:DP:GQ:PL	0/1:58,48:106:99:993,0,1370	20	0	1	0
chr17	42793595	42793595	T	C	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_001321299:exon11:c.T1153C:p.Y385H	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.234	B	0.061	B	0.001	N	0.839	N	0.55	N	1.39	T	-1.053	T	0.045	T	0.26	0.874	8.544	4.46	1.866	2.432	7.288	0.047	0.00982490935573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400231830	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.588	0.08273	T	0.057	0.22878	B	0.015	0.17295	B	0.001460	0.38980	N	0.000000	0.838648	0.28661	N	1.245	0.31408	L	1.39	0.33842	T	-0.44	0.14588	N	0.347	0.38848	-1.0530	0.13574	T	0.045	0.19478	T	10	0.15978709	0.30014	T	0.009825	0.25608	T	0.047	0.12962	0.357	0.35897	0.459906663326	0.45615	0.17916283843384448	0.17835	0.216532944329	0.24176	0.645919680595	0.59405	T	0.17985	0.53099	T	-0.18073	0.23628	T	-0.497383	0.22619	T	0.489171773195267	0.32234	T	0.868613	0.57103	D	0.06631601	0.14256	0.06713895	0.13849	0.06631601	0.14256	0.06713895	0.13849	-2.185	0.03968	T	.	.	0.202	0.42678	B	.	.	2.716716	0.35524	19.92	0.95107868604214119	0.26191	0.58685	0.30708	D	AEHCI	0.100677	0.20239	N	-0.364642881200651	0.26737	1.461531	-0.207714043630715	0.31258	1.767304	0.825224776375448	0.24595	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.46	4.46	0.53567	2.585000	0.45776	7.803000	0.69204	0.665000	0.62972	0.990000	0.36992	1.000000	0.68203	0.848000	0.40082	0.3122:0.0:0.0:0.6878	7.288	0.25522	240	0.90628	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	676.98	34	chr17	42793595	.	T	C	676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.230;DP=775;ExcessHet=0.0000;FS=0.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=1.20;SOR=0.882	GT:AD:DP:GQ:PL	0/1:40,31:71:99:691,0,942	20	0	1	0
chr17	42955903	42955903	G	A	exonic	AARSD1;PTGES3L-AARSD1	.	nonsynonymous SNV	AARSD1:NM_001261434:exon7:c.C733T:p.R245W	.	.	431	1084	4	3	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.085	M	0.61	T	-0.079	T	0.359	T	0.977	4.070	20.9	5.52	2.579	2.500	13.473	0.620	0.0375016706228	0.0002	0.00179712	0.0007	0	0.0003	0.0001	0	0.0002	0.0011	0.0044	0.0006921	107	154602	rs201941576	0.0004	0.0004	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0040	0	0.0002	0.0002	0.0001	0	0.0007	0.0001	0.0003	0.0045	0.0002	0.0003	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.41e-05	0	6.555e-05	0	0.0004	0	0	7.352e-05	0.0005	0.0058	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	0.000000	.	.	.	2.765	0.80766	M	0.61	0.53516	T	-7.9	0.96191	D	0.93	0.93487	-0.0788	0.80580	T	0.359	0.72085	T	9	0.013238043	0.00327	T	0.037502	0.57658	D	0.620	0.85249	.	.	0.609617904835	0.60648	0.8886518496027869	0.88834	0.560045054504	0.52543	0.676551043987	0.63775	T	0.456132	0.81514	T	-0.0255131	0.48064	T	0.191254	0.82641	D	0.240474779046427	0.22441	T	0.981802	0.93846	D	0.876221	0.89359	0.7562106	0.85593	0.876221	0.89360	0.7562106	0.85594	-12.969	0.89235	D	.	.	0.811	0.80930	P	.;.;.;.;.;.	.;.;.;.;.;.	5.813787	0.93668	33	0.99910077620948867	0.97949	0.96369	0.68801	D	AEFBI	0.716616	0.66840	D	0.787719075141611	0.85331	8.544284	0.728956460164553	0.84577	8.331002	0.0189072500312813	0.13108	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	2.446000	0.44566	9.652000	0.81173	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.7381:0.2619	13.473	0.60743	196	0.92420	Alanyl-tRNA synthetase, class IIc, core domain;.;.;.;Alanyl-tRNA synthetase, class IIc, core domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1580.98	34	chr17	42955903	.	G	A	1580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=811;ExcessHet=0.0000;FS=2.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-6.120e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/1:47,68:115:99:1595,0,920	20	0	1	0
chr17	43857823	43857823	C	T	exonic	CD300LG	.	nonsynonymous SNV	CD300LG:NM_001168323:exon6:c.C817T:p.L273F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.023	B	0.018	B	.	.	1.000	N	0	N	3.5	T	-0.953	T	0.011	T	0.066	0.925	8.767	0.061	0.069	0.081	2.545	0.020	0.00148416228816	.	.	0.0006	0	0	0	0	0	0	0.0013	6.47e-05	10	154602	rs767649570	9.242e-05	8.756e-05	4.704e-05	0.0001	0.0015	7.903e-05	7.425e-05	0.0013	0.0012	0	0	0	0	0	0	0	0.0002	0.0015	5.908e-05	5.905e-05	2.569e-05	9.397e-05	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.031	0.53172	D	0.07	0.46632	T	0.006	0.13644	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	.	.	.	3.5	0.07920	T	-1.19	0.30346	N	0.091	0.09631	-0.9530	0.40450	T	0.011	0.03996	T	9	0.011503816	0.00251	T	0.001484	0.02267	T	0.020	0.03691	0.322	0.30226	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.667446	0.00057	T	-0.772049	0.02702	T	0.0098645069697506	0.00130	T	0.449255	0.13535	T	.	.	.	.	.	.	.	.	-4.273	0.28008	T	.	.	0.077	0.10787	B	.;.;.	.;.;.	1.021546	0.14010	10.58	0.90949191079251013	0.20198	0.00457	0.02207	N	AEFBI	0.024221	0.01464	N	-1.29716280451271	0.03710	0.1662026	-1.31941037517095	0.04179	0.1965912	2.78558152294966E-4	0.06300	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.21	0.061	0.13653	0.083000	0.14718	0.771000	0.21396	0.454000	0.21428	0.001000	0.13787	0.987000	0.30940	0.166000	0.20848	0.2321:0.499:0.0:0.2688	2.545	0.04446	640	0.64132	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1053.98	36	chr17	43857823	.	C	T	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.244;DP=860;ExcessHet=0.0000;FS=1.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=0.309;SOR=0.743	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1068,0,1525	20	0	1	0
chr17	45242070	45242070	-	CCG	exonic	FMNL1	.	nonframeshift insertion	FMNL1:NM_005892:exon15:c.1809_1810insCCG:p.P612_G613insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5739.79	40	chr17	45242067	.	TCCG	T,TCCGCCG	5739.79	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-3.300e-02;DP=925;ExcessHet=1.1607;FS=1.351;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=-7.100e-02;SOR=0.799	GT:AD:DP:GQ:PL	0/2:57,3,44:104:99:1604,1676,4122,0,2178,2181	16	0	3	0
chr17	45396508	45396508	T	C	exonic	ARHGAP27	.	nonsynonymous SNV	ARHGAP27:NM_001385386:exon12:c.A1501G:p.I501V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.262	B	0.148	B	0.000	D	1.000	D	0.75	N	2.32	T	-1.048	T	0.028	T	0.186	2.682	14.93	2.97	0.726	2.051	7.536	0.037	0.0151399832038	.	.	0.0004	0	0	0	0	0	0	0.0010	5.17e-05	8	154602	rs758940297	2.337e-05	2.326e-05	9.828e-06	3.715e-05	0.0004	1.667e-05	1.466e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.404e-05	0.0004	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	0.188	0.42487	T	0.085	0.62352	T	0.262	0.31549	B	0.148	0.34065	B	0.000000	0.84330	D	0.000000	0.999816	0.49394	D	1.12	0.28775	L	2.32	0.16640	T	-0.61	0.19509	N	0.268	0.30347	-1.0484	0.14846	T	0.028	0.12103	T	10	0.087124646	0.14878	T	0.01514	0.35698	T	0.037	0.09474	0.628	0.76366	0.178374595973	0.17440	0.4066476721870245	0.40580	0.39818620588	0.40889	0.728325128555	0.71262	T	0.014632	0.12601	T	-0.442126	0.01256	T	-0.558601	0.16507	T	0.0826663373445466	0.10325	T	0.829517	0.51225	T	0.13590786	0.31526	0.1125389	0.27154	0.13590786	0.31525	0.1125389	0.27153	-6.048	0.47866	T	.	.	0.104	0.27762	B	.;.;.;.;.	.;.;.;.;.	3.094988	0.41689	21.4	0.99434840795110946	0.64472	0.88198	0.48020	D	AEFDBI	0.372493	0.45812	N	-0.443355584501337	0.23966	1.290751	-0.350532761782458	0.26493	1.463664	0.995556835275146	0.34191	0.67177	0.52595	0	0.702456	0.74545	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	4.05	2.97	0.33479	1.697000	0.37402	2.738000	0.34441	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.1059:0.0:0.8941	7.536	0.26877	389	0.83303	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1615.98	34	chr17	45396508	.	T	C	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.535e+00;DP=812;ExcessHet=0.0000;FS=3.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.810e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:56,75:131:99:1630,0,1281	20	0	1	0
chr17	50465359	50465359	G	A	exonic	CHAD	.	nonsynonymous SNV	CHAD:NM_001267:exon3:c.C1019T:p.T340M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.789	P	0.000	D	1.000	D	1.075	L	0.47	T	-0.733	T	0.211	T	0.498	4.317	22.6	5.12	2.380	3.424	18.581	0.175	0.0511894015337	.	.	2.473e-05	9.628e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs771331186	1.915e-05	1.915e-05	1.361e-05	2.475e-05	0.0001	1.328e-05	1.144e-05	5.395e-05	4.042e-05	2.987e-05	0	0	0	0	0	1.439e-05	3.312e-05	0.0001	6.574e-06	6.566e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.011	0.64786	D	1.0	0.90584	D	0.789	0.57669	P	0.000006	0.62929	D	0.106561	1	0.81001	D	1.7	0.43825	L	0.47	0.56114	T	-0.82	0.22508	N	0.521	0.55106	-0.7329	0.58817	T	0.211	0.57134	T	10	0.435511	0.57766	T	0.051189	0.64555	D	0.175	0.44197	0.318	0.29581	0.832425800339	0.83083	0.5777225342019477	0.57701	1.00889876937	0.74677	0.557255029678	0.46879	T	0.061688	0.31720	T	-0.193013	0.21816	T	-0.278358	0.46971	T	0.417893588542938	0.29612	T	0.888611	0.61875	D	0.21328315	0.43702	0.15308031	0.35988	0.21328315	0.43702	0.15308031	0.35987	-6.103	0.47133	T	.	.	0.335	0.57367	B	.;.	.;.	4.783567	0.77554	26.7	0.99892398269043325	0.96589	0.91879	0.54461	D	AEFDBI	0.685161	0.64726	D	0.473804648259725	0.65565	4.838566	0.492061432584861	0.67461	5.087376	0.977494522406468	0.29827	0.554377	0.28877	0	0.547309	0.14657	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	3.287000	0.51438	11.827000	0.97409	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	18.581	0.91125	894	0.26265	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1353.98	39	chr17	50465359	.	G	A	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.561;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=0.974;SOR=0.664	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1368,0,1314	20	0	1	0
chr17	57979244	57979258	TGCTGCTGCTGCTGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1046del:p.Q350_Q354del	.	.	.	.	.	.	.	.	.	.	.	2808061	VEZF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1173190330	0.0032	0.0032	0.0032	0.0031	0.0036	0.0031	0.0031	0.0035	0.0034	0.0009	0.0013	0.0033	0.0004	0.0011	0.0014	0.0036	0.0023	0.0032	0.0022	0.0022	0.0024	0.0020	0.0042	0.0020	0.0019	0.0028	0.0027	0.0010	0.0022	0.0008	0.0041	0.0008	0.0017	0.0034	0.0032	0.0014	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:37,0,3,27:67:99:1046,1307,3184,1155,2808,2807,0,1486,1306,1337	15	1	1	0
chr17	57979256	57979258	TGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1034del:p.Q354del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:37,0,3,27:67:99:1046,1307,3184,1155,2808,2807,0,1486,1306,1337	15	1	1	0
chr17	57979258	57979258	-	TGC	exonic	VEZF1	.	nonframeshift insertion	VEZF1:NM_007146:exon5:c.1031_1032insGCA:p.Q354_H355insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:37,0,3,27:67:99:1046,1307,3184,1155,2808,2807,0,1486,1306,1337	15	1	1	0
chr17	61400360	61400360	G	A	exonic	TBX2	.	nonsynonymous SNV	TBX2:NM_005994:exon1:c.G184A:p.A62T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.805	P	0.483	P	0.716	N	0.599	N	0	N	-2.12	D	-0.272	T	0.474	T	0.286	3.864	19.63	3.28	1.671	1.214	13.75	0.292	0.977924586587	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1221726143	7.932e-06	1.916e-05	1.277e-05	2.423e-06	8.8e-06	3.3e-06	2.12e-06	3.66e-06	2.35e-06	0	0	0	0	0	0	8.8e-06	0	0	2.722e-05	3.303e-05	3.975e-05	1.4e-05	0.0001	8.36e-06	5.29e-06	2.33e-05	9.33e-06	0	0	0.0001	0	0	0	0	3.029e-05	0	0	0.087	0.32453	T	0.453	0.12848	T	0.805	0.45210	P	0.483	0.47159	P	0.716483	0.06288	N	1.150880	0.598948	0.30957	N	0	0.06538	N	-2.12	0.86283	D	0.01	0.06868	N	0.282	0.31925	-0.2722	0.75752	T	0.474	0.79810	T	10	0.48654902	0.60743	T	0.977925	0.99878	D	0.292	0.61157	0.414	0.45216	0.546761817766	0.54331	0.22290548280792385	0.22205	.	.	0.904126763344	0.96884	D	0.250783	0.62093	T	-0.0306715	0.47319	T	-0.281834	0.46617	T	0.627957403659821	0.37534	D	0.524548	0.17205	T	0.1012658	0.23918	0.13372424	0.32060	0.1012658	0.23918	0.13372424	0.32059	-9.022	0.67839	D	.	.	0.187	0.40376	B	.	.	3.923545	0.57294	23.8	0.99651079982805268	0.77317	0.73632	0.36016	D	ALL	.	.	.	-0.0321628861953934	0.40403	2.39874	0.0181342495455154	0.40557	2.42235	0.99999999999986	0.74766	0.623204	0.39778	0	0.578056	0.33634	0	0.378051	0.06126	2	0.562822	0.20929	0	.	.	3.28	3.28	0.36691	0.839000	0.27239	6.296000	0.55406	0.488000	0.22294	0.953000	0.33222	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	13.75	0.62385	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3681.98	22	chr17	61400360	.	G	A	3681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.32;ReadPosRankSum=-1.997e+00;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,95:165:99:0|1:61400360_G_A:3696,0,2584:61400360	20	0	1	0
chr17	61400363	61400363	G	T	exonic	TBX2	.	nonsynonymous SNV	TBX2:NM_005994:exon1:c.G187T:p.A63S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.821	P	0.515	P	0.832	N	0.996	N	0	N	-2.11	D	-0.608	T	0.421	T	0.336	1.729	11.74	3.28	1.671	2.468	9.952	0.265	0.932620018035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901242277	7.989e-06	8.237e-06	1.284e-05	2.445e-06	8.857e-06	3.32e-06	2.14e-06	3.68e-06	2.37e-06	0	0	0	0	0	0	8.857e-06	0	0	2.753e-05	3.341e-05	4.02e-05	1.416e-05	0.0001	8.43e-06	5.34e-06	2.345e-05	9.38e-06	0	0	0.0001	0	0	0	0	3.031e-05	0	0	0.217	0.19157	T	0.867	0.03342	T	0.821	0.45737	P	0.515	0.48040	P	0.831793	0.09100	N	0.912848	0.995533	0.23266	N	1.43	0.35840	L	-2.11	0.86216	D	0.3	0.04091	N	0.343	0.38438	-0.6078	0.64495	T	0.421	0.76650	T	10	0.40918761	0.56105	T	0.93262	0.99514	D	0.265	0.57870	0.428	0.47515	0.464345556596	0.46058	0.2478413834623592	0.24698	.	.	0.905736804008	0.97051	D	0.240296	0.60859	T	0.00431797	0.52249	T	-0.231574	0.51619	T	0.338563054800034	0.26566	T	0.424958	0.11391	T	0.04601881	0.07631	0.06793589	0.14122	0.04601881	0.07630	0.06793589	0.14122	-8.564	0.64852	D	.	.	0.155	0.34227	B	.	.	3.465806	0.48328	22.6	0.96698453990213407	0.30766	0.91926	0.54563	D	ALL	.	.	.	-0.0590760002710713	0.39197	2.307713	-0.00134506166747328	0.39655	2.354539	0.999999994681046	0.74766	0.623204	0.39778	0	0.578056	0.33634	0	0.378051	0.06126	2	0.562822	0.20929	0	.	.	3.28	3.28	0.36691	1.533000	0.35645	5.414000	0.48546	0.488000	0.22294	0.966000	0.33990	1.000000	0.68203	0.058000	0.15825	0.0:0.0:1.0:0.0	9.952	0.40815	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3679.98	20	chr17	61400363	.	G	T	3679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.17;ReadPosRankSum=-3.411e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,95:166:99:0|1:61400360_G_A:3694,0,2560:61400360	20	0	1	0
chr17	67743746	67743746	T	C	exonic	NOL11	.	nonsynonymous SNV	NOL11:NM_001303272:exon17:c.T1501C:p.S501P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.845	P	0.272	B	0.926	N	1.000	N	1.61	L	0.9	T	-1.000	T	0.078	T	0.481	1.321	10.33	-7.62	-1.823	0.610	11.259	0.219	0.0186458765851	.	0.000199681	0.0003	0	0	0.0002	0	0	0	0.0027	0.0002264	35	154602	rs565913198	0.0001	0.0002	5.965e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	9.687e-07	7.267e-05	0.0024	3.938e-05	3.937e-05	0	8.052e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.146	0.25055	T	0.141	0.33442	T	0.845	0.46707	P	0.272	0.39956	B	0.926241	0.08452	N	0.971354	0.999999	0.08975	N	0.69	0.16971	N	0.9	0.45248	T	-1.38	0.34198	N	0.161	0.16864	-0.9999	0.29945	T	0.078	0.31042	T	10	0.006064594	0.00136	T	0.018646	0.40783	T	0.219	0.51417	0.262	0.20631	0.434934176536	0.43114	0.6196948845536999	0.61902	0.368799734887	0.38423	0.363221913576	0.19854	T	0.006983	0.06403	T	-0.462818	0.00944	T	-0.444367	0.28320	T	0.0577184705301578	0.06805	T	0.779622	0.41374	T	0.08569626	0.19890	0.25959608	0.51711	0.08569626	0.19889	0.25959608	0.51710	-6.969	0.53807	T	.	.	0.54	0.66355	A	.	.	2.073690	0.26374	17.09	0.72400538059896624	0.09960	0.55848	0.29967	D	AEFBI	0.191822	0.31901	N	-0.992877240876703	0.08755	0.4117345	-1.12397161660887	0.07244	0.351633	0.0790636876945225	0.15807	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.27	-7.62	0.01154	0.414000	0.20885	1.105000	0.24105	-1.046000	0.01651	0.913000	0.31760	0.999000	0.35428	0.886000	0.42526	0.7538:0.0648:0.0:0.1814	11.259	0.48301	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1927.08	41	chr17	67743746	.	T	C	1927.08	.	AC=2;AF=0.048;AN=42;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.93;SOR=0.910	GT:AD:DP:GQ:PL	1/1:0,69:69:99:1955,207,0	20	1	0	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.134	U	0.773	D	3.115	M	-3.44	D	0.986	D	0.905	D	0.506	3.427	17.59	-0.080	-0.265	-0.468	10.925	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	217.3	33	chr17	69194391	.	T	G	217.3	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.822e+00;DP=1966;ExcessHet=1.7912;FS=271.712;InbreedingCoeff=-0.1603;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.097;SOR=11.722	GT:AD:DP:GQ:PL	0/1:63,28:91:53:53,0,978	15	0	6	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:36,0,0,47,0:83:99:.:.:1671,1790,3071,1790,3071,3071,0,1281,1281,1141,1790,3071,3071,1281,3071	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:36,0,0,47,0:83:99:.:.:1671,1790,3071,1790,3071,3071,0,1281,1281,1141,1790,3071,3071,1281,3071	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:36,0,0,47,0:83:99:.:.:1671,1790,3071,1790,3071,3071,0,1281,1281,1141,1790,3071,3071,1281,3071	12	1	1	0
chr17	75502994	75502994	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C1834T:p.R612C	.	.	.	.	.	.	.	.	.	.	.	2337159	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.759	P	0.000	D	1.000	D	1.245	L	-0.33	T	-0.396	T	0.331	T	0.65	4.058	20.8	4.95	2.573	2.678	11.265	0.259	0.0736552044945	.	.	3.855e-05	0	0	0.0001	0	0	0	0.0002	3.88e-05	6	154602	rs763855349	3.233e-05	3.215e-05	3.147e-05	3.32e-05	0.0002	2.492e-05	2.233e-05	6.526e-05	4.459e-05	0	0	0	0.0002	0	0	2.884e-05	4.997e-05	6.991e-05	1.974e-05	1.97e-05	1.286e-05	2.694e-05	0.0002	5.25e-06	2.46e-06	.	.	2.417e-05	0	0	0	0.0002	0	0	1.472e-05	0	0	0.01	0.57480	D	0.033	0.58089	D	0.999	0.77913	D	0.759	0.56370	P	0.000230	0.47286	D	0.000000	0.999716	0.52396	D	0.69	0.16971	N	-0.52	0.70717	T	-2.09	0.47683	N	0.683	0.68950	-0.3961	0.72150	T	0.331	0.69902	T	10	0.5359504	0.63448	D	0.073655	0.71843	D	0.259	0.57090	0.227	0.15257	0.67054385244	0.66776	0.286336754177643	0.28546	0.668448552784	0.59290	0.744858384132	0.73688	T	0.037466	0.24486	T	-0.056591	0.43437	T	-0.114515	0.62250	T	0.61265641450882	0.36907	D	0.868313	0.58316	D	0.09465339	0.22260	0.07493604	0.16445	0.09465339	0.22260	0.07493604	0.16444	-5.551	0.42342	T	.	.	0.125	0.30103	B	.;.	.;.	4.472590	0.69705	25.4	0.99929301359763723	0.99279	0.92691	0.56311	D	AEFDBI	0.662564	0.63239	D	0.483461262235778	0.66123	4.909745	0.491624917116388	0.67432	5.083492	0.999978011894484	0.50053	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	3.576000	0.53622	9.602000	0.81068	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	0.0:0.0:0.6894:0.3106	11.265	0.48339	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	38	chr17	75502994	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.980e-01;DP=828;ExcessHet=0.0000;FS=1.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.371;SOR=0.909	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1158,0,713	20	0	1	0
chr17	75631162	75631162	C	T	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon10:c.G1536A:p.M512I,	.	.	398	1121	3	0	0	3	0.0013363	.	.	3214151	RECQL5-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.949	P	0.694	P	0.000	D	1.000	D	2.075	M	0.39	T	-0.671	T	0.236	T	0.636	2.858	15.52	4.66	2.692	5.455	14.565	0.159	0.0153486284824	0.0008	0.000199681	0.0006	0.0001	8.652e-05	0	0	0.0010	0	0.0001	0.0006727	104	154602	rs201834853	0.0014	0.0014	0.0015	0.0014	0.0017	0.0014	0.0013	0.0017	0.0017	0.0002	6.709e-05	0.0001	0	5.65e-05	0.0002	0.0017	0.0016	0.0002	0.0008	0.0008	0.0010	0.0007	0.0017	0.0007	0.0007	0.0015	0.0014	7.215e-05	0	0.0002	0	0	0	0	0.0017	0.0009	0	0.022	0.48642	D	0.051	0.48080	T	0.949	0.53761	P	0.694	0.53938	P	0.000003	0.62929	D	0.131699	0.999998	0.58761	D	2.095	0.58118	M	0.13	0.60973	T	-1.12	0.28906	N	0.673	0.70615	-0.6713	0.61770	T	0.236	0.60343	T	10	0.05673939	0.12021	T	0.015349	0.36031	T	0.159	0.41286	0.569	0.69167	0.743485017823	0.74118	0.4831308683714124	0.48233	0.246144050669	0.27147	0.550507009029	0.45929	T	0.203339	0.56178	T	-0.253023	0.13731	T	-0.142702	0.59883	T	0.13343919813633	0.15696	T	0.872113	0.65058	D	0.25591484	0.48628	0.24081837	0.49464	0.25591484	0.48628	0.24081837	0.49463	-5.377	0.48069	T	.	.	0.818	0.78138	P	.;.;.	.;.;.	4.599658	0.72836	25.9	0.98438028722424875	0.41475	0.96937	0.71758	D	AEFBI	0.587317	0.58501	D	0.56694092762604	0.71121	5.602845	0.594933006809009	0.74573	6.160492	0.997586602585242	0.35786	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.69	4.66	0.57857	5.759000	0.68437	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1467:0.8533:0.0:0.0	14.565	0.67760	975	0.05339	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	668.98	45	chr17	75631162	.	C	T	668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.650;DP=872;ExcessHet=0.0000;FS=0.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.21;SOR=0.730	GT:AD:DP:GQ:PL	0/1:32,30:62:99:683,0,710	20	0	1	0
chr17	75666451	75666451	C	G	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_001003715:exon2:c.G107C:p.S36T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.166	B	0.21	B	0.095	N	0.999	N	0.18	N	2.46	T	-0.971	T	0.106	T	0.243	1.838	12.11	-0.012	0.096	0.802	10.469	0.025	0.0193574788334	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs746223130	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.32610	T	0.494	0.27591	T	0.011	0.20350	B	0.063	0.27082	B	0.094659	0.20162	N	0.597033	0.999372	0.22091	N	0.445	0.12748	N	0.14	0.60854	T	-0.99	0.28497	N	0.391	0.43223	-0.9710	0.36988	T	0.106	0.38808	T	10	0.106915206	0.19835	T	0.019357	0.41701	T	0.025	0.05312	0.47	0.54376	0.466740653422	0.46302	0.30454611042226865	0.30367	0.133079155338	0.14984	0.37703371048	0.21835	T	0.096291	0.39795	T	-0.262652	0.12591	T	-0.43353	0.29536	T	0.0606179311871529	0.07267	T	0.813919	0.46746	T	0.1968828	0.41533	0.16938436	0.38968	0.1968828	0.41532	0.16938436	0.38967	-2.76	0.27011	T	.	.	0.079	0.13315	B	.;.;.;.;.;.	.;.;.;.;.;.	2.521648	0.32586	19.09	0.81516498457087883	0.13724	0.70266	0.34520	D	AEFBI	0.260439	0.37859	N	-0.722388114617533	0.15393	0.7753734	-0.596755674345711	0.19577	1.050985	0.999369618662762	0.39301	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.41	-0.0122	0.13314	0.892000	0.27957	0.615000	0.20071	-0.173000	0.11020	0.739000	0.29016	0.124000	0.22932	0.946000	0.48989	0.0:0.5297:0.0:0.4703	10.469	0.43808	976	0.04745	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1056.98	36	chr17	75666451	.	C	G	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.620e-01;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.065e+00;SOR=0.637	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1071,0,1021	20	0	1	0
chr17	77194839	77194839	C	T	exonic	SEC14L1	.	nonsynonymous SNV	SEC14L1:NM_001144001:exon5:c.C535T:p.L179F	.	.	428	1092	2	0	0	2	0.000914913	.	.	2257633	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.004	B	0.767	N	1.000	N	1.245	L	-0.39	T	-0.933	T	0.216	T	0.139	0.276	5.493	3.65	1.361	0.126	6.326	0.087	0.0275522624486	7.7e-05	0.000199681	0.0001	9.63e-05	0.0002	0	0	0.0002	0	0	9.7e-05	15	154602	rs200819182	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	9.9e-05	0.0002	0.0001	5.974e-05	0.0003	0	0	1.872e-05	0.0003	0.0001	0.0002	1.159e-05	9.848e-05	9.842e-05	6.424e-05	0.0001	0.0002	6.002e-05	4.876e-05	0.0001	8.877e-05	2.405e-05	0	6.537e-05	0	0	0	0	0.0002	0	0	0.705	0.04107	T	0.451	0.31833	T	0.001	0.07471	B	0.004	0.10090	B	0.766772	0.06573	N	1.116430	1	0.08975	N	1.1	0.28011	L	0.91	0.70597	T	-0.84	0.22944	N	0.081	0.05670	-0.9335	0.43620	T	0.216	0.57849	T	10	0.04397556	0.03305	T	0.027552	0.50347	D	0.087	0.25287	.	.	0.51792882206	0.51437	0.2107116862348017	0.20987	0.633412425926	0.57238	0.299583017826	0.10339	T	0.017212	0.23605	T	-0.377144	0.03247	T	-0.489375	0.23457	T	0.0178533317468762	0.00513	T	0.593841	0.22547	T	0.02599649	0.01602	0.039175473	0.03952	0.02599649	0.01602	0.039175473	0.03952	-6.08	0.47533	T	.	.	0.081	0.22245	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.073388	0.14556	11.12	0.72598250531152042	0.10029	0.39577	0.26244	N	AEFDBI	0.219001	0.34394	N	-0.801015441685307	0.13284	0.6533372	-0.778807025085478	0.15014	0.7875436	0.775371632575641	0.23743	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.7	3.65	0.40985	0.837000	0.27212	0.411000	0.18111	-0.199000	0.08999	0.001000	0.13787	0.001000	0.17328	0.009000	0.08673	0.1377:0.66:0.1268:0.0754	6.326	0.20449	982	0.03397	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1327.98	131	chr17	77194839	.	C	T	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=1762;ExcessHet=0.0000;FS=3.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=1.27;QD=10.46;ReadPosRankSum=0.083;SOR=0.974	GT:AD:DP:GQ:PL	0/1:71,56:127:99:1342,0,1684	20	0	1	0
chr17	80048756	80048756	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon5:c.G850C:p.D284H	Ciliary dyskinesia, primary, 15	.	0	1480	41	1	0	43	0.014319	.	.	256485	not_provided|Primary_ciliary_dyskinesia_15|not_specified|Male_infertility|Primary_ciliary_dyskinesia	MedGen:C3661900|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|MedGen:CN169374|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	.	.	0.634	D	2.495	M	1.96	T	-0.255	T	0.347	T	0.673	3.222	16.80	1.55	0.409	0.461	8.520	0.174	.	0.0024	0.00139776	0.0041	0.0012	0.0013	0	0	0.0039	0.0145	0.0102	0.002639	408	154602	rs201042940	0.0025	0.0025	0.0023	0.0027	0.0191	0.0024	0.0024	0.0162	0.0151	0.0011	0.0013	0.0062	0	0.0002	0.0191	0.0021	0.0032	0.0087	0.0016	0.0016	0.0014	0.0018	0.0087	0.0014	0.0014	0.0066	0.0059	0.0004	0.0011	0.0008	0.0037	0	0.0002	0.0204	0.0021	0.0043	0.0087	0.004	0.72154	D	0.008	0.76473	D	1.0	0.90584	D	0.968	0.75168	D	.	.	.	.	0.633722	0.32813	D	2.83	0.82355	M	0.33	0.59314	T	-4.65	0.84601	D	0.53	0.55886	-0.2553	0.76216	T	0.347	0.71147	T	9	0.01399526	0.00295	T	.	.	.	0.174	0.44019	.	.	0.682504492806	0.67979	0.24220831427307404	0.24134	0.76162819002	0.64289	0.405483782291	0.25832	T	0.56747	0.85623	D	-0.250417	0.14046	T	-0.125376	0.61358	T	0.0493624269693155	0.05388	T	0.881912	0.64770	D	0.2342842	0.46246	0.24963558	0.50538	0.23541293	0.46377	0.29497436	0.55528	-7.763	0.62419	D	0.7666023762268043	0.84792	0.346	0.56831	A	.;.;.;.	.;.;.;.	2.747739	0.36012	20.1	0.99456458065418962	0.65581	0.51224	0.28846	D	AEFGBIJ	0.137980	0.25913	N	0.264883616036358	0.54378	3.603614	0.120231942431681	0.45586	2.81906	6.51723434342093E-4	0.07551	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.526000	0.22680	0.951000	0.22923	0.676000	0.76740	0.531000	0.27197	0.039000	0.21534	0.958000	0.51230	0.2692:0.0:0.7308:0.0	8.520	0.32428	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2491.11	35	chr17	80048756	.	G	C	2491.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.16;DP=941;ExcessHet=0.1072;FS=3.153;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.014;SOR=0.513	GT:AD:DP:GQ:PL	0/1:30,33:63:99:738,0,683	19	0	2	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,125,0:126:99:1|1:80090216_G_C:4766,368,0,4768,375,4775:80090216	1	6	9	4
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,105,0:106:99:1|1:80090216_G_C:4119,298,0,4121,305,4128:80090216	1	7	4	7
chr17	81452032	81452032	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon13:c.G4241A:p.R1414Q	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.001	B	0.215	N	0.996	N	0.055	N	2.0	T	-0.958	T	0.021	T	0.149	1.230	9.987	-2.14	-0.324	0.156	10.969	0.029	0.030318722309	.	.	6.621e-05	0	0.0009	0	0	0	0	0	3.88e-05	6	154602	rs782567531	3.144e-05	4.93e-05	3.615e-05	2.736e-05	0.0001	1.887e-05	1.496e-05	3.895e-05	2.051e-05	0	0.0001	0	3.285e-05	6.009e-05	0	2.774e-05	0	2.074e-05	3.945e-05	3.94e-05	5.14e-05	2.692e-05	0.0003	1.716e-05	1.13e-05	8.874e-05	5.384e-05	0	0	0.0003	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	0.57	0.08808	T	0.0	0.02946	B	0.001	0.04355	B	0.214916	0.16276	N	0.485095	0.996304	0.23055	N	.	.	.	2.0	0.21473	T	-0.63	0.18459	N	0.241	0.42443	-0.9582	0.39516	T	0.021	0.08824	T	10	0.024152398	0.00655	T	0.030319	0.52653	D	0.029	0.06676	0.283	0.23961	0.0138822411134	0.00435	0.05270453064004215	0.05212	0.0953066022556	0.10761	0.399445712566	0.24991	T	0.414924	0.76834	T	-0.500948	0.00565	T	-0.697674	0.05954	T	0.0338405604907994	0.02611	T	0.549145	0.18877	T	0.026764102	0.01775	0.066944435	0.13781	0.026764102	0.01775	0.066944435	0.13781	-3.357	0.14484	T	.	.	0.051	0.00269	B	.;.	.;.	-0.049826	0.03950	0.883	0.96634498514507572	0.30527	0.04453	0.10057	N	AEFBI	0.058889	0.11081	N	-1.28802005178495	0.03818	0.1712724	-1.21459111424818	0.05675	0.271056	1.53408949899142E-4	0.05650	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.39	-2.14	0.06725	0.306000	0.19030	-0.025000	0.12872	-1.363000	0.01179	0.033000	0.20612	0.065000	0.22112	0.265000	0.23644	0.4155:0.0:0.5845:0.0	10.969	0.46640	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1502.98	29	chr17	81452032	.	G	A	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.164;DP=832;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.415;SOR=0.781	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1517,0,1341	20	0	1	0
chr17	81809839	81809839	G	A	exonic	GCGR	.	nonsynonymous SNV	GCGR:NM_000160:exon3:c.G118A:p.G40S,	.	.	416	1075	30	1	0	32	0.0146654	.	.	31198	Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.002	B	.	.	0.000	A	-0.665	N	0.63	T	-1.018	T	0.032	T	0.096	0.932	8.796	-1.26	-0.044	0.264	8.493	0.028	.	0.0081	0.00419329	0.0084	0.0012	0.012	0	0	0.0085	0.0190	0.0097	0.002141	331	154602	rs1801483	0.0083	0.0078	0.0084	0.0081	0.0372	0.0081	0.0081	0.0331	0.0315	0.0022	0.0068	0.0119	8.395e-05	0.0014	0.0372	0.0087	0.0095	0.0077	0.0064	0.0064	0.0067	0.0061	0.0086	0.0061	0.0060	0.0074	0.0072	0.0019	0.1250	0.0086	0.0147	0.0002	0.0008	0.0374	0.0080	0.0095	0.0048	0.383	0.11085	T	0.424	0.13953	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	3.00252e-10	0.08975	A	-0.615	0.02190	N	0.63	0.53088	T	1.42	0.00815	N	0.1	0.14480	-1.0176	0.24495	T	0.032	0.13767	T	8	0.02872321	0.01002	T	.	.	.	0.028	0.06331	.	.	0.430010490656	0.42616	0.6741460368078268	0.67352	0.00264210785075	0.00224	0.371503293514	0.21047	T	0.03405	0.23165	T	-0.607969	0.00130	T	-0.638691	0.09766	T	0.000417347594004391	0.00003	T	0.283672	0.12956	T	0.10111001	0.23881	0.119531035	0.28850	0.10111001	0.23881	0.12714596	0.30611	-5.49	0.41775	T	.	.	0.065	0.07083	B	.;.;.	.;.;.	0.208167	0.05921	2.361	0.87792247977111282	0.17485	0.02006	0.06040	N	AEFGBCI	0.137159	0.25806	N	-1.32208881725407	0.03423	0.1528966	-1.25854109391487	0.05005	0.2375129	0.0218672784979503	0.13384	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.07	-1.26	0.08892	0.712000	0.25450	0.467000	0.18675	-1.481000	0.01058	0.012000	0.18695	0.011000	0.20116	0.582000	0.30943	0.6058:0.0:0.3942:0.0	8.493	0.32271	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	963.98	33	chr17	81809839	.	G	A	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.436;SOR=0.769	GT:AD:DP:GQ:PL	0/1:32,40:72:99:978,0,589	20	0	1	0
chr17	81960899	81960899	C	T	exonic	NOTUM	.	nonsynonymous SNV	NOTUM:NM_178493:exon1:c.G11A:p.G4E,	.	.	384	1136	2	0	0	2	0.000879507	.	.	2338529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-0.989	T	0.031	T	0.288	-1.386	0.024	-1.5	-0.081	-0.359	4.618	0.023	0.340659852795	.	0.000599042	0	0	.	.	0	0	0	0	0.0002329	36	154602	rs557946260	0.0024	0.0022	0.0022	0.0026	0.0134	0.0023	0.0023	0.0125	0.0121	0.0005	0.0080	0	0	0.0001	0.0050	0.0020	0.0026	0.0134	0.0022	0.0022	0.0019	0.0025	0.0102	0.0020	0.0019	0.0079	0.0071	0.0005	0	0.0083	0	0.0002	0	0	0.0019	0.0048	0.0102	0.848	0.04353	T	0.517	0.10572	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999516	0.21065	N	0.205	0.09354	N	.	.	.	0.17	0.05706	N	0.082	0.05799	-0.9887	0.32928	T	0.031	0.13155	T	8	0.004248917	0.00085	T	0.34066	0.92006	D	0.023	0.04649	.	.	0.124217242631	0.12060	0.4037858171179632	0.40294	0.622210514355	0.56502	0.857111215591	0.90683	D	0.062704	0.43730	T	-0.554945	0.00272	T	-0.543456	0.17958	T	0.0129908659258785	0.00225	T	0.360864	0.08943	T	0.06902729	0.15089	0.11617172	0.28045	0.06902729	0.15088	0.11617172	0.28044	-5.606	0.42847	T	.	.	0.085	0.10208	B	.;.	.;.	1.909594	0.24252	16.33	0.94186380174945938	0.24411	0.05390	0.11255	N	AEFDBHCI	0.042168	0.06508	N	-1.25354318706523	0.04253	0.1915945	-1.21865782318844	0.05610	0.267802	0.999999670763626	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.7	-1.5	0.08233	-0.335000	0.07917	1.076000	0.23848	0.462000	0.21616	0.000000	0.06391	0.999000	0.35428	0.958000	0.51230	0.0:0.4033:0.1851:0.4117	4.618	0.11824	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1336.98	20	chr17	81960899	.	C	T	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.220e-01;DP=510;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-2.390e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1351,0,1449	20	0	1	0
chr17	82718962	82718962	-	A	exonic	FN3KRP	.	frameshift insertion	FN3KRP:NM_024619:exon2:c.199dupA:p.T67Nfs*47,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0	0.0011	0.0040	0.0004334	67	154602	rs781761828	0.0003	0.0003	0.0001	0.0004	0.0044	0.0003	0.0002	0.0040	0.0039	0	0	0	2.519e-05	0	0.0002	2.698e-06	0.0003	0.0044	8.535e-05	8.53e-05	0	0.0002	0.0027	4.953e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1549.94	36	chr17	82718962	.	C	CA	1549.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.411e+00;DP=817;ExcessHet=0.0000;FS=2.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=3.16;SOR=0.462	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1564,0,1595	20	0	1	0
chr18	2891919	2891919	G	A	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.G1792A:p.E598K,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.084	B	0.011	B	0.027	N	1.000	N	1.525	L	1.08	T	-1.025	T	0.055	T	0.354	0.245	5.325	4.59	1.276	1.147	9.626	0.044	0.00898154119176	.	0.000798722	0.0001	0.0005	8.663e-05	0	0	0.0001	0	6.064e-05	0.0001294	20	154602	rs115304890	0.0001	0.0001	8.44e-05	0.0001	0.0031	9.049e-05	8.532e-05	0.0020	0.0017	0.0013	0.0001	7.652e-05	5.038e-05	0	0.0031	5.755e-05	0.0002	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.711e-05	0.0002	0.0002	0.0003	0	6.535e-05	0	0	0	0.0034	8.82e-05	0	0.0002	0.598	0.05668	T	0.278	0.21812	T	0.084	0.24799	B	0.011	0.15521	B	0.027395	0.25764	N	0.381299	1	0.08975	N	2.32	0.66415	M	1.08	0.39401	T	-1.68	0.40082	N	0.104	0.08786	-1.0254	0.21952	T	0.055	0.23375	T	10	0.013474464	0.00286	T	0.008982	0.23655	T	0.044	0.11924	.	.	0.289098819767	0.28531	0.1766504922194619	0.17584	0.0962794421504	0.10862	0.264701604843	0.05464	T	0.009718	0.08828	T	-0.389508	0.02710	T	-0.467276	0.25809	T	0.024730309587363	0.01238	T	0.681532	0.29028	T	0.049845982	0.08915	0.06503378	0.13123	0.049845982	0.08915	0.06503378	0.13122	-5.49	0.41775	T	.	.	0.083	0.09143	B	.	.	0.991137	0.13692	10.23	0.97241371861394577	0.32996	0.33760	0.24906	N	AEFDGBI	0.136333	0.25697	N	-0.665290119012213	0.17015	0.8720695	-0.621047241656392	0.18952	1.014776	0.999998276263739	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.478617	0.07155	0	.	.	5.48	4.59	0.56297	1.320000	0.33272	2.443000	0.32780	-0.828000	0.02899	0.067000	0.21986	0.884000	0.27742	0.004000	0.06068	0.0836:0.1851:0.7313:0.0	9.626	0.38914	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1478.98	38	chr18	2891919	.	G	A	1478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=851;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-1.934e+00;SOR=0.726	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1493,0,1189	20	0	1	0
chr18	2906825	2906825	C	T	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.C2402T:p.P801L,	.	.	.	.	.	.	.	.	.	.	.	2227676	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.033	B	0.005	B	0.838	N	1.000	N	0.46	N	-0.17	T	-1.026	T	0.096	T	0.157	2.102	12.98	0.019	-0.221	-0.089	3.910	0.025	0.200344189663	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs975844351	3.16e-05	3.42e-05	2.994e-05	3.334e-05	8.456e-05	2.331e-05	2.035e-05	2.283e-05	1.989e-05	0	8.456e-05	0	0	0	0	3.186e-05	4.237e-05	7e-05	2.632e-05	2.628e-05	1.287e-05	4.042e-05	6.554e-05	8.15e-06	5.15e-06	1.172e-05	6.25e-06	0	0	6.554e-05	0	0	0	0	4.415e-05	0	0	0.06	0.37326	T	0.041	0.50514	D	0.033	0.20350	B	0.005	0.11217	B	0.838330	0.09053	N	0.913850	0.99978	0.20372	N	1.3	0.32576	L	-0.17	0.65563	T	-0.85	0.23156	N	0.068	0.04072	-1.0259	0.21788	T	0.096	0.36238	T	10	0.07751846	0.12245	T	0.200344	0.86703	D	0.025	0.05312	0.389	0.41115	0.28798054836	0.28402	0.15232444182623417	0.15154	0.0861749078995	0.09733	0.401897251606	0.25334	T	0.006236	0.05676	T	-0.176045	0.24327	T	-0.490653	0.23322	T	0.0545793979897096	0.06287	T	0.394361	0.09853	T	0.030173287	0.02636	0.03393757	0.02372	0.030173287	0.02636	0.03393757	0.02372	-5.244	0.39386	T	.	.	0.087	0.10979	B	.	.	1.361192	0.17704	13.32	0.88586039607600997	0.18094	0.21655	0.21478	N	ALL	0.097660	0.19693	N	-1.45602840052587	0.02169	0.09551346	-1.46524354825016	0.02635	0.1215379	0.999999999980516	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	3.96	0.019	0.13439	0.004000	0.13007	-1.070000	0.06423	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3298:0.4872:0.0:0.1831	3.910	0.08702	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1465.98	19	chr18	2906825	.	C	T	1465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.756;DP=565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-3.790e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1480,0,1733	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,167,0:168:99:.:.:4813,491,0,4815,498,4822	3	2	4	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:50,36:86:99:229,0,672	11	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:103,26:129:99:403,0,2592	9	0	12	0
chr18	31403536	31403536	T	C	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.T1538C:p.I513T	Hypotrichosis 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.96	D	0.648	P	0.003	N	0.994	D	2.075	M	0.16	T	-0.446	T	0.285	T	0.887	2.862	15.53	6.01	2.299	5.759	16.194	0.412	0.0317486289488	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268799287	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.076	0.42614	T	0.409	0.55278	B	0.186	0.52381	B	0.003192	0.35300	N	0.000000	0.994338	0.42244	D	3.295	0.90403	M	0.16	0.61559	T	-2.54	0.55025	D	0.827	0.82257	-0.4459	0.70535	T	0.285	0.65685	T	10	0.8883421	0.88169	D	0.031749	0.53753	D	0.412	0.72328	0.729	0.86286	0.889542543598	0.88845	0.6310040298728992	0.63034	0.262969208904	0.28858	0.589133024216	0.51371	T	0.509297	0.82619	D	0.158719	0.70083	D	0.159341	0.80765	D	0.861402153968811	0.51179	D	0.514049	0.16524	T	0.20720473	0.42918	0.26435527	0.52253	0.20720473	0.42918	0.26435527	0.52252	-6.822	0.52722	T	.	.	0.901	0.82843	P	.;.	.;.	2.681596	0.34985	19.78	0.99669756877955096	0.78523	0.85893	0.45080	D	AEFBHCI	0.484145	0.52429	N	0.302858886128297	0.56296	3.794029	0.307957034413979	0.56005	3.763563	0.999999999349267	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	5.828000	0.68999	6.177000	0.54575	0.665000	0.62972	0.910000	0.31679	1.000000	0.68203	0.188000	0.21541	0.0:0.0:0.0:1.0	16.194	0.81828	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1089.98	34	chr18	31403536	.	T	C	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.620e-01;DP=837;ExcessHet=0.0000;FS=4.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.13;ReadPosRankSum=-1.443e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:80,54:134:99:1104,0,1849	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:45,37:82:99:227,0,451	1	0	20	0
chr18	35246304	35246304	A	G	exonic	ZNF397	.	nonsynonymous SNV	ZNF397:NM_001135178:exon4:c.A1599G:p.I533M,	.	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	B	0.03	B	0.846	N	1.000	D	0.255	N	3.17	T	-0.970	T	0.013	T	0.213	0.652	7.499	2.43	0.603	0.045	7.583	0.023	0.00939251303273	.	.	0.0008	0	0	0	0	0.0013	0	0.0009	9.06e-05	14	154602	rs763296249	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0009	0.0008	0	0.0006	0.0045	2.809e-05	0	0.0007	3.732e-05	0.0005	0.0010	0.0003	0.0003	0.0003	0.0003	0.0016	0.0002	0.0002	0.0011	0.0010	0	0	0.0016	0.0029	0	0	0	7.349e-05	0	0.0002	0.014	0.53172	D	0.083	0.41405	T	0.119	0.26641	B	0.03	0.21741	B	0.846179	0.08997	N	0.889798	1	0.81001	D	0.55	0.14455	N	3.17	0.07599	T	0.61	0.02480	N	0.135	0.13198	-0.9699	0.37220	T	0.013	0.05033	T	9	0.005084038	0.00110	T	0.009393	0.24623	T	0.023	0.04649	.	.	0.0716867268079	0.06686	0.05374063573099254	0.05316	0.151121070966	0.17054	0.359417885542	0.19301	T	0.02248	0.17323	T	-0.526034	0.00405	T	-0.619938	0.11191	T	0.00852381975476425	0.00104	T	0.290971	0.05319	T	0.080381766	0.18414	0.06314339	0.12465	0.080381766	0.18413	0.06314339	0.12465	-3.991	0.23669	T	.	.	0.091	0.12985	B	.	.	1.823517	0.23168	15.91	0.88593187746354041	0.18099	0.30759	0.24165	N	AEBCI	0.081962	0.16590	N	-0.7473827119361	0.14705	0.7347498	-0.673785806864579	0.17618	0.9375951	0.997023275889983	0.35208	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	3.85	2.43	0.28797	-0.099000	0.10976	0.023000	0.13619	-0.713000	0.03919	0.001000	0.13787	0.003000	0.18671	0.828000	0.39026	0.7414:0.0:0.0:0.2586	7.583	0.27146	869	0.31655	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1234.98	37	chr18	35246304	.	A	G	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.365;SOR=0.756	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1249,0,1090	20	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.563	P	0.066	N	1.000	N	1.525	L	0.96	T	-1.043	T	0.086	T	0.141	-0.215	2.958	0.957	-0.051	1.229	2.399	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	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2337.79	46	chr18	37067196	.	T	C	2337.79	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-6.944e+00;DP=2815;ExcessHet=3.5521;FS=193.128;InbreedingCoeff=-0.2495;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.16;ReadPosRankSum=1.87;SOR=12.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,34:113:99:.:.:210,0,1435	13	0	8	0
chr18	47098222	47098222	-	A	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829dupA:p.S281Kfs*11	.	.	734	696	20	0	72	92	0.0141643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/1:38,7,8,0:57:50:88,0,941,50,696,955,227,1053,1016,1441	15	0	2	0
chr18	47098222	47098222	-	AA	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829_830insAA:p.S281Kfs*4	.	.	1	172	24	0	29	53	0.0652174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/1:38,7,8,0:57:50:88,0,941,50,696,955,227,1053,1016,1441	15	0	2	0
chr18	63918068	63918068	C	A	exonic	SERPINB10	.	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.C338A:p.A113E,	.	.	437	1065	19	0	1	20	0.00884132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.503	P	0.165	B	0.104	N	1.000	N	2.14	M	-1.87	D	-0.336	T	0.499	T	0.355	1.183	9.811	3.07	0.805	1.850	9.162	0.340	.	.	0.00259585	0.0018	0.0003	0.0006	0	0	0.0009	0.0022	0.0089	0.0015653	242	154602	rs150764677	0.0011	0.0011	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0094	0.0001	0.0002	0.0006	0	1.875e-05	0.0050	0.0005	0.0012	0.0102	0.0007	0.0007	0.0005	0.0009	0.0089	0.0006	0.0005	0.0068	0.0061	9.638e-05	0	0.0005	0.0014	0	9.454e-05	0	0.0006	0.0019	0.0089	0.007	0.59928	D	0.016	0.60972	D	0.503	0.37206	P	0.165	0.35019	B	0.103519	0.19744	N	0.534882	1	0.08975	N	2.365	0.68172	M	-1.87	0.84415	D	0.62	0.02442	N	0.256	0.28965	-0.3362	0.73953	T	0.499	0.81033	T	10	0.0140993595	0.00297	T	.	.	.	0.340	0.66202	0.82	0.93328	0.768827659172	0.76671	0.5855384913771153	0.58482	0.0360439460579	0.03809	.	.	.	0.14396	0.48034	T	-0.307592	0.07963	T	-0.207504	0.53934	T	0.0177004433797873	0.00501	T	0.872113	0.57861	D	0.083175056	0.19196	0.16915773	0.38929	0.083175056	0.19196	0.16915773	0.38928	-6.628	0.51267	T	.	.	0.349	0.56501	A	.;.	.;.	1.472428	0.18966	14.02	0.88662443902899091	0.18154	0.02507	0.06998	N	AEFDGBIJ	0.035576	0.04603	N	-0.511846940848905	0.21696	1.153322	-0.585779298301498	0.19863	1.067659	0.999977401777019	0.50053	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	3.07	0.34476	0.841000	0.27267	3.512000	0.38846	-0.184000	0.09925	0.001000	0.13787	0.744000	0.26502	0.221000	0.22489	0.0779:0.2951:0.627:0.0	9.162	0.36189	960	0.08626	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	0.04762	2036.11	33	chr18	63918068	.	C	A	2036.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.68;DP=954;ExcessHet=0.1072;FS=1.570;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.80;ReadPosRankSum=1.67;SOR=0.581	GT:AD:DP:GQ:PL	0/1:70,24:94:99:416,0,1547	19	0	2	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,27:102:99:.:.:163,0,1974	0	0	20	1
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,127,0,0:128:99:.:.:5180,323,0,5197,380,5253,5197,380,5253,5253	1	10	5	0
chr19	1012159	1012159	G	A	exonic	TMEM259	.	nonsynonymous SNV	TMEM259:NM_001033026:exon5:c.C748T:p.R250C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.935	D	0.001	D	1.000	D	1.385	L	.	.	-0.623	T	0.255	T	0.54	3.593	18.30	3.99	2.056	2.547	9.321	0.317	0.0124752271535	.	.	1.343e-05	0	0	0	0	2.44e-05	0	0	6.5e-06	1	154602	rs747628492	7.564e-06	8.893e-06	9.572e-06	5.533e-06	0.0011	4.06e-06	2.97e-06	0.0005	0.0003	2.999e-05	0	0	2.542e-05	0	0.0011	2.705e-06	0	0	3.283e-05	3.281e-05	2.57e-05	4.028e-05	4.811e-05	1.26e-05	7.97e-06	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0.0034	2.941e-05	0	0	0.041	0.41915	D	0.054	0.49120	T	0.997	0.77913	D	0.935	0.67021	D	0.000880	0.41335	D	0.202573	0.999746	0.48716	D	1.445	0.36358	L	.	.	.	-3.41	0.73477	D	0.753	0.75927	-0.6229	0.63868	T	0.255	0.62496	T	9	0.79755306	0.79206	D	0.012475	0.31071	T	0.317	0.63904	0.68	0.81788	0.123314135267	0.11883	0.5121244731856338	0.51134	1.12942352786	0.78560	0.800991535187	0.82114	T	0.176196	0.52605	T	0.0188268	0.54224	T	-0.210733	0.53625	T	0.922078371047974	0.58204	D	0.981302	0.94867	D	0.19507973	0.41282	0.15541324	0.36431	0.19507973	0.41282	0.15541324	0.36430	-8.92	0.67181	D	.	.	0.434	0.66364	A	.;.;.	.;.;.	5.318969	0.89281	29.9	0.99878389614782748	0.95491	0.87917	0.47625	D	AEFDBI	0.581509	0.58150	D	0.401511179758427	0.61506	4.353	0.372878450981056	0.59898	4.171729	0.875740136018926	0.25511	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.99	3.99	0.45527	2.769000	0.47338	11.432000	0.92743	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.6541:0.3459	9.321	0.37124	994	0.00715	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2483.08	26	chr19	1012159	.	G	A	2483.08	.	AC=2;AF=0.048;AN=42;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.29;SOR=0.855	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2511,272,0	20	1	0	0
chr19	1046318	1046318	C	A	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon13:c.C1534A:p.R512S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.428	B	0.081	B	.	.	1.000	N	1.525	L	-3.36	D	-0.159	T	0.647	D	0.352	1.918	12.37	1.11	0.410	-0.011	9.029	0.231	0.0817556597745	.	.	1.692e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs367592755	1.722e-05	1.779e-05	1.783e-05	1.661e-05	0.0010	1.182e-05	9.99e-06	0.0005	0.0003	2.992e-05	0	0	0.0002	0	0.0010	8.998e-06	0	0	3.282e-05	3.281e-05	1.285e-05	5.369e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0.0034	0	0	0	0.009	0.57480	D	0.11	0.37310	T	0.428	0.35540	B	0.081	0.28987	B	.	.	.	.	0.999999	0.08975	N	2.25	0.63811	M	-3.36	0.94067	D	-1.87	0.43717	N	0.215	0.26717	-0.1590	0.78696	T	0.647	0.87672	D	9	0.07790175	0.12351	T	0.081756	0.73753	D	0.231	0.53208	0.51	0.60693	0.877000883397	0.87579	0.7273982828015781	0.72683	0.125686490203	0.14172	0.474880456924	0.35354	T	0.282209	0.65494	T	-0.178305	0.23989	T	-0.129736	0.60994	T	0.047224033705243	0.05005	T	0.746125	0.36682	T	0.118657626	0.27953	0.13376944	0.32068	0.118657626	0.27953	0.13376944	0.32068	-8.207	0.64191	D	.	.	0.186	0.40131	B	.;.;.	.;.;.	1.092738	0.14763	11.31	0.98139594905107574	0.38588	0.22042	0.21612	N	AEFBCIJ	0.103751	0.20778	N	-0.553298074738348	0.20380	1.073944	-0.576170334907314	0.20115	1.082293	0.832947555670472	0.24726	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	4.85	1.11	0.19640	0.006000	0.13051	0.108000	0.14741	0.518000	0.23583	0.001000	0.13787	0.003000	0.18671	0.441000	0.27694	0.1324:0.5161:0.3515:0.0	9.029	0.35409	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3554.08	37	chr19	1046318	.	C	A	3554.08	.	AC=2;AF=0.048;AN=42;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.43;SOR=0.709	GT:AD:DP:GQ:PL	1/1:0,125:125:99:3582,374,0	20	1	0	0
chr19	2015551	2015553	GGC	-	exonic	BTBD2	.	nonframeshift deletion	BTBD2:NM_017797:exon1:c.151_153del:p.A54del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	459.95	24	chr19	2015541	.	GGGCGGCGGCGGC	GGGCGGCGGC,G	459.95	.	AC=2,2;AF=0.500,0.500;AN=4;DP=24;ExcessHet=0.0000;FS=0.000;MLEAC=8,4;MLEAF=1.00,1.00;MQ=60.00;QD=27.94;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,8,0:8:24:349,24,0,349,24,349	0	1	0	19
chr19	2253656	2253656	C	T	exonic	JSRP1	.	nonsynonymous SNV	JSRP1:NM_144616:exon5:c.G400A:p.V134M,	.	.	202	1319	1	0	0	1	0.000378931	.	.	3448189	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.935	D	0.312	N	1.000	N	0.975	L	0.28	T	-0.760	T	0.229	T	0.317	3.122	16.43	-1.74	-0.422	-0.106	12.009	0.142	0.025671712519	0.0002	0.000199681	0.0004	0	0	0	0	0.0003	0	0.0005	7.12e-05	11	154602	rs201363415	7.822e-05	8.072e-05	5.684e-05	0.0001	0.0018	6.595e-05	6.148e-05	0.0009	0.0007	3.608e-05	0.0001	0	0	2.876e-05	0.0018	3.562e-05	0.0002	0.0006	6.563e-05	6.561e-05	5.138e-05	8.053e-05	0.0010	3.513e-05	2.613e-05	0.0004	0.0003	0	0	0.0001	0	0	0	0	4.41e-05	0	0.0010	0.009	0.57480	D	0.028	0.54934	D	0.992	0.64738	D	0.935	0.67021	D	0.312152	0.14415	N	0.550510	0.999993	0.08975	N	1.04	0.26193	L	0.28	0.59037	T	-1.29	0.32387	N	0.416	0.45615	-0.7596	0.57427	T	0.229	0.59409	T	10	0.07699898	0.12097	T	0.025672	0.48627	D	0.142	0.37995	.	.	0.427139414373	0.42328	0.12477528081686912	0.12403	0.209316482217	0.23399	0.798585832119	0.81748	T	0.165719	0.51168	T	-0.369256	0.03631	T	-0.402888	0.33048	T	0.115145356471064	0.13948	T	0.717528	0.33029	T	0.114039615	0.26927	0.1966573	0.43407	0.114039615	0.26927	0.1966573	0.43406	-7.724	0.59174	D	.	.	0.572	0.67723	P	.	.	3.137184	0.42413	21.5	0.9967782972592808	0.79043	0.09228	0.15026	N	AEFDBHCI	0.120559	0.23480	N	-0.273327215180464	0.30181	1.680545	-0.446212899269172	0.23656	1.291224	0.999875867388866	0.44625	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.16	-1.74	0.07622	-0.390000	0.07392	-0.057000	0.12472	0.524000	0.24156	0.011000	0.18532	0.001000	0.17328	0.959000	0.51448	0.1269:0.3789:0.4942:0.0	12.009	0.52571	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4483.08	43	chr19	2253656	.	C	T	4483.08	.	AC=2;AF=0.048;AN=42;DP=962;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.20;SOR=0.958	GT:AD:DP:GQ:PL	1/1:0,159:159:99:4511,476,0	20	1	0	0
chr19	3936577	3936600	TGACCAACGGCGGCAAGACCACGC	-	exonic	NMRK2	.	nonframeshift deletion	NMRK2:NM_001375467:exon2:c.29_52del:p.G13_N20del	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203231097	2.498e-05	2.531e-05	2.398e-05	2.601e-05	0.0004	1.814e-05	1.605e-05	6.179e-05	2.554e-05	3.128e-05	0	0	0	0	0.0004	2.678e-05	1.716e-05	2.511e-05	1.314e-05	1.313e-05	0	2.69e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3427.05	38	chr19	3936576	.	ATGACCAACGGCGGCAAGACCACGC	A	3427.05	.	AC=2;AF=0.048;AN=42;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.04;SOR=0.948	GT:AD:DP:GQ:PL	1/1:0,77:77:99:3455,232,0	20	1	0	0
chr19	5751676	5751676	C	G	exonic	CATSPERD	.	nonsynonymous SNV	CATSPERD:NM_152784:exon12:c.C1017G:p.D339E,	.	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.814	N	1.000	N	-0.28	N	2.09	T	-0.942	T	0.019	T	0.051	-1.931	0.008	-4.38	-1.109	-2.371	11.805	0.018	0.00279689982546	0.0012	0.00119808	0.0010	0.0003	9.053e-05	0	0.0006	0.0008	0	0.0036	0.0009185	142	154602	rs182429615	0.0011	0.0011	0.0011	0.0012	0.0027	0.0011	0.0011	0.0024	0.0023	0.0002	0.0001	0	0	0.0008	0	0.0012	0.0010	0.0027	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0006	0.0011	0.0010	0.0001	0	0.0003	0	0.0002	0.0008	0	0.0014	0.0009	0.0021	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.813571	0.09233	N	0.866565	1	0.08975	N	-0.805	0.01590	N	2.09	0.20122	T	0.98	0.01447	N	0.125	0.11769	-0.9424	0.42234	T	0.019	0.07753	T	10	0.005914569	0.00132	T	0.002797	0.05840	T	0.018	0.03083	0.301	0.26843	0.0551355673512	0.04727	0.13120088681055211	0.13045	0.14476756542	0.16355	0.311209350824	0.12089	T	0.001084	0.00603	T	-0.765569	0.00014	T	-0.875514	0.00692	T	0.012062929750252	0.00191	T	0.162984	0.01479	T	0.0257031	0.01537	0.034226887	0.02454	0.0257031	0.01537	0.034226887	0.02453	-4.126	0.25672	T	.	.	0.124	0.26138	B	.	.	-1.924797	0.00120	0.002	0.3126584607533433	0.01753	0.00063	0.00458	N	AEFDBI	0.012733	0.00147	N	-2.60628794479312	0.00009	0.0003901138	-2.58497885225901	0.00015	0.0006500489	0.00309526264602062	0.09922	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.53	-4.38	0.03371	-2.333000	0.01188	-3.051000	0.03105	-3.100000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0853:0.5635:0.3512:0.0	11.805	0.51420	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1765.08	41	chr19	5751676	.	C	G	1765.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.12;DP=767;ExcessHet=0.0000;FS=3.411;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=25.96;ReadPosRankSum=0.765;SOR=0.561	GT:AD:DP:GQ:PL	1/1:1,67:68:99:1793,193,0	20	1	0	0
chr19	7927256	7927256	G	T	exonic	TIMM44	.	nonsynonymous SNV	TIMM44:NM_006351:exon13:c.C1290A:p.D430E,	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	0.988	D	-0.67	N	-0.94	T	-0.946	T	0.089	T	0.058	0.461	6.501	-3.85	-0.467	-0.573	6.622	0.111	0.022094724321	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771710174	6.849e-06	7.524e-06	6.815e-06	6.883e-06	0.0002	3.46e-06	2.53e-06	2.62e-06	1.68e-06	0	0	0	0	1.913e-05	0.0002	6.295e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001364	0.39242	N	0.277259	0.988386	0.40754	D	-0.4	0.02994	N	-0.87	0.75325	T	0.5	0.02945	N	0.065	0.03726	-0.9457	0.41698	T	0.089	0.34298	T	10	0.028426707	0.00975	T	0.022095	0.44952	T	0.111	0.31313	0.276	0.22845	0.189391138174	0.18552	0.09513983562838181	0.09445	0.340530058476	0.35994	0.448148339987	0.31691	T	0.003371	0.23286	T	-0.237078	0.15723	T	-0.578323	0.14694	T	0.0266810599714518	0.01500	T	0.751925	0.38629	T	0.05995678	0.12247	0.04572525	0.06214	0.05995678	0.12247	0.04572525	0.06214	-4.086	0.25083	T	.	.	0.057	0.04356	B	.;.	.;.	-0.286012	0.02679	0.346	0.90479464548166677	0.19737	0.35229	0.25253	N	AEFDBCI	0.228155	0.35186	N	-1.31079947028924	0.03551	0.1588111	-1.18292257915997	0.06194	0.2974159	0.999998419108498	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.95	-3.85	0.03964	-0.871000	0.04331	-3.020000	0.03134	-0.119000	0.14319	0.010000	0.18352	0.000000	0.08366	0.990000	0.65344	0.5451:0.1361:0.3188:0.0	6.622	0.22002	877	0.30165	Tim44-like domain|Tim44-like domain;Tim44-like domain|Tim44-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3049.08	34	chr19	7927256	.	G	T	3049.08	.	AC=2;AF=0.048;AN=42;DP=894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.50;SOR=0.830	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3077,320,0	20	1	0	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:222,10,0,30:263:99:.:.:546,840,10419,1263,10490,11106,0,9100,9735,9736	0	0	17	0
chr19	8888875	8888875	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.G40624A:p.G13542R,	.	.	408	1101	13	0	0	13	0.00586907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	1.0	D	0.999	D	.	.	.	.	2.045	M	1.35	T	-0.626	T	0.203	T	0.345	1.414	10.66	2.41	0.793	-0.289	8.763	0.072	0.0278153874305	.	.	7.969e-05	0.0008	8.688e-05	0	0	0	0	0	3.84e-05	1	26028	rs755391254	0.0014	0.0084	0.0011	0.0016	0.0158	0.0013	0.0013	0.0146	0.0141	0.0028	0.0158	0.0063	0.0002	0.0016	0.0017	0.0006	0.0016	0.0054	6.668e-06	0.0014	1.301e-05	0	2.461e-05	0	0	.	.	2.461e-05	0	0	0	0	0	0	0	0	0	0.069	0.35537	T	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.35	0.34648	T	-2.29	0.50992	N	0.248	0.28028	-0.6265	0.63718	T	0.203	0.56073	T	8	0.08053857	0.13082	T	0.027815	0.50582	D	0.089	0.25827	.	.	0.268660756437	0.26461	0.13708187593328022	0.13632	.	.	0.346202164888	0.17362	T	.	.	.	-0.235867	0.15880	T	-0.466525	0.25891	T	0.304147384166462	0.25175	T	0.527447	0.17405	T	.	.	.	.	.	.	.	.	-7.178	0.55323	T	.	.	0.120	0.24633	B	.	.	1.794308	0.22807	15.77	0.97789906911688207	0.35989	0.02210	0.06441	N	AEFDBI	0.042239	0.06528	N	-0.650184196310702	0.17455	0.8983332	-0.816690112373923	0.14091	0.734491	2.21458825941537E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	2.41	0.28644	-0.393000	0.07366	.	.	0.564000	0.28548	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.7667:0.2333:0.0	8.763	0.33846	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	229.98	212	chr19	8888875	.	C	T	229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.30;DP=5064;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-1.112e+01;QD=1.46;ReadPosRankSum=-3.243e+00;SOR=0.586	GT:AD:DP:GQ:PL	0/1:142,16:158:99:244,0,5914	20	0	1	0
chr19	9533882	9533882	T	C	exonic	ZNF426	.	nonsynonymous SNV	ZNF426:NM_001300883:exon3:c.A88G:p.S30G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.0	B	.	.	1.000	N	-0.075	N	4.69	T	-0.913	T	0.004	T	0.061	2.093	12.96	1.41	0.886	0.105	4.301	0.064	0.00122289665712	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs377594816	1.3e-05	1.3e-05	1.497e-05	1.1e-05	1.709e-05	8.31e-06	6.7e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.83351	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.095	0.08423	N	4.69	0.01694	T	-1.11	0.28703	N	0.128	0.12198	-0.9135	0.46415	T	0.004	0.01159	T	9	0.062663555	0.08046	T	0.001223	0.01608	T	0.064	0.18567	.	.	0.223847106136	0.22009	0.057071766341460016	0.05648	0.0557325641587	0.06161	0.243570774794	0.03121	T	0.041526	0.25887	T	-0.42871	0.01509	T	-0.745931	0.03647	T	0.0601672744160407	0.07195	T	0.0536946	0.00480	T	0.09920139	0.23409	0.083108716	0.19019	0.09920139	0.23409	0.083108716	0.19019	-2.246	0.04270	T	.	.	0.103	0.22208	B	.;.;.;.	.;.;.;.	1.796262	0.22833	15.78	0.97578457515888539	0.34720	0.04086	0.09547	N	AEFBI	0.027306	0.02208	N	-0.967711616816971	0.09300	0.4395411	-0.973165241777057	0.10390	0.5230126	0.00775613969431388	0.11537	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	1.41	1.41	0.21461	-0.451000	0.06869	.	.	0.582000	0.30178	0.000000	0.06391	0.000000	0.08366	0.947000	0.49155	0.0:0.0:0.3604:0.6396	4.301	0.10367	952	0.10565	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2194.08	35	chr19	9533882	.	T	C	2194.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.77;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2222,237,0	20	1	0	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.447	B	0.21	B	0.603	N	0.969	N	0.345	N	.	.	-1.020	T	0.048	T	0.129	0.766	8.053	-3.02	-0.358	-0.269	8.877	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	207.46	82	chr19	10089677	.	G	C	207.46	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.463e+00;DP=2074;ExcessHet=1.7912;FS=272.777;InbreedingCoeff=-0.1689;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.605;SOR=12.318	GT:AD:DP:GQ:PL	0/1:52,26:78:69:69,0,837	15	0	6	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,118:118:99:1|1:12430718_C_A:5234,5234,5234,355,355,0:12430718	5	4	10	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/5:0,85,0,0,0,10,0:95:99:.:.:3904,387,120,3862,392,3888,3862,392,3888,3888,3862,392,3888,3888,3888,3400,0,3454,3454,3454,3456,3862,392,3888,3888,3888,3454,3888	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/5:0,85,0,0,0,10,0:95:99:.:.:3904,387,120,3862,392,3888,3862,392,3888,3888,3862,392,3888,3888,3888,3400,0,3454,3454,3454,3456,3862,392,3888,3888,3888,3454,3888	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/5:0,85,0,0,0,10,0:95:99:.:.:3904,387,120,3862,392,3888,3862,392,3888,3888,3862,392,3888,3888,3888,3400,0,3454,3454,3454,3456,3862,392,3888,3888,3888,3454,3888	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/5:0,85,0,0,0,10,0:95:99:.:.:3904,387,120,3862,392,3888,3862,392,3888,3888,3862,392,3888,3888,3888,3400,0,3454,3454,3454,3456,3862,392,3888,3888,3888,3454,3888	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/5:0,85,0,0,0,10,0:95:99:.:.:3904,387,120,3862,392,3888,3862,392,3888,3888,3862,392,3888,3888,3888,3400,0,3454,3454,3454,3456,3862,392,3888,3888,3888,3454,3888	2	3	6	0
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	0/1:34,35,0:69:99:1323,0,1322,1433,1427,2860	9	4	7	0
chr19	14482855	14482855	C	T	exonic	GIPC1	.	nonsynonymous SNV	GIPC1:NM_202470:exon2:c.G122A:p.G41E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.137	B	0.066	B	0.000	D	1.000	D	1.04	L	-1.58	D	-0.628	T	0.335	T	0.466	1.100	9.488	3.91	2.192	0.144	9.752	0.355	0.374574609094	.	.	2.795e-05	0	0	0	0	5.713e-05	0	0	6.5e-06	1	154602	rs758629720	1.406e-06	1.368e-06	0	2.838e-06	1.83e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.83e-06	0	0	1.314e-05	1.313e-05	0	2.689e-05	0.0001	2.18e-06	8.2e-07	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.024	0.47745	D	0.199	0.27679	T	0.137	0.27402	B	0.066	0.27432	B	0.000006	0.62929	D	0.061993	0.958497	0.81001	D	1.32	0.33002	L	-1.58	0.81987	D	0.32	0.03955	N	0.381	0.42247	-0.6278	0.63664	T	0.335	0.70215	T	10	0.2427879	0.41481	T	0.374575	0.92827	D	0.355	0.67600	0.193	0.10437	0.918796294785	0.91797	0.2831645826179855	0.28229	0.269640530284	0.29486	0.797869205475	0.81638	T	0.071071	0.34118	T	0.0270681	0.55332	T	-0.19708	0.54922	T	0.168929129838943	0.18507	T	0.614539	0.23442	T	0.12634523	0.29595	0.12875016	0.30970	0.12634523	0.29595	0.12875016	0.30969	-4.947	0.36259	T	.	.	0.108	0.20547	B	.;.;.	.;.;.	1.983737	0.25203	16.68	0.96297188732673256	0.29334	0.21491	0.21420	N	AEFBI	0.201384	0.32804	N	-0.712274355595028	0.15677	0.7921231	-0.718278281519475	0.16506	0.8734895	0.563149551581434	0.21430	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.91	3.91	0.44383	0.687000	0.25088	.	.	0.507000	0.23093	0.000000	0.06391	1.000000	0.68203	0.050000	0.15192	0.0:0.7881:0.2119:0.0	9.752	0.39648	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1622.98	35	chr19	14482855	.	C	T	1622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=821;ExcessHet=0.0000;FS=2.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.919;SOR=0.942	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1637,0,1338	20	0	1	0
chr19	14718715	14718715	C	T	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001352243:exon12:c.C695T:p.S232L	.	.	398	1121	3	0	0	3	0.0013363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.104	B	0.056	B	.	.	0.986	N	2.525	M	2.25	T	-1.004	T	0.050	T	0.533	1.722	11.72	2.39	0.796	0.250	4.310	0.112	0.0016347092852	.	.	0.0001	0	0	0	0	3e-05	0	0.0010	0.0001164	18	154602	rs762726378	9.235e-05	9.235e-05	5.173e-05	0.0001	0.0013	7.958e-05	7.432e-05	0.0011	0.0011	0	0	0	0	0	0	1.799e-05	0	0.0013	5.253e-05	5.249e-05	5.139e-05	5.371e-05	0.0015	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0015	0.001	0.78490	D	0.004	0.74150	D	0.104	0.25941	B	0.056	0.26147	B	.	.	.	.	0.985936	0.40356	D	1.75	0.45442	L	2.25	0.17761	T	-4.87	0.81269	D	0.256	0.28965	-1.0036	0.28874	T	0.050	0.21417	T	9	0.036693096	0.01981	T	0.001635	0.02651	T	0.112	0.31546	0.492	0.57890	0.148003135375	0.14442	0.06930639403176586	0.06868	0.20218460776	0.22641	0.620087742805	0.55741	T	0.038731	0.24941	T	-0.423466	0.01626	T	-0.426608	0.30320	T	0.18639396727699	0.19629	T	0.730127	0.34567	T	0.32973877	0.55449	0.39465058	0.64153	0.32973877	0.55449	0.39465058	0.64153	-7.797	0.59678	D	.	.	0.846	0.79531	P	.	.	2.972209	0.39618	21.0	0.99607065767159508	0.74575	0.00059	0.00440	N	AEFDBHCI	0.085346	0.17300	N	-0.556717480762098	0.20274	1.06755	-0.652211449105849	0.18160	0.9689405	0.0486770300179991	0.14777	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.44	2.39	0.28492	0.268000	0.18336	.	.	0.587000	0.30956	0.000000	0.06391	0.428000	0.24841	0.960000	0.51673	0.2237:0.6545:0.0:0.1217	4.310	0.10406	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1218.98	46	chr19	14718715	.	C	T	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=821;ExcessHet=0.0000;FS=1.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=-2.350e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:65,59:124:99:1233,0,1531	20	0	1	0
chr19	15373212	15373212	C	T	exonic	AKAP8	.	nonsynonymous SNV	AKAP8:NM_005858:exon5:c.G500A:p.G167E,	.	.	426	1083	12	1	0	14	0.00642202	.	.	727981	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.747	P	0.255	B	0.080	N	0.885	D	1.04	L	1.03	T	-0.992	T	0.040	T	0.429	-1.018	0.235	1.36	0.170	1.142	8.136	0.157	.	0.0038	0.00339457	0.0063	0.0002	0.0002	0	0.0220	0.0075	0.0045	0.0062	0.005996	927	154602	rs148526102	0.0070	0.0070	0.0070	0.0070	0.0074	0.0069	0.0068	0.0072	0.0072	0.0008	0.0005	3.826e-05	0	0.0216	0.0019	0.0074	0.0052	0.0057	0.0055	0.0055	0.0050	0.0060	0.0075	0.0052	0.0051	0.0069	0.0067	0.0012	0	0.0007	0	0	0.0220	0	0.0075	0.0047	0.0052	1.0	0.00964	T	0.006	0.70582	D	0.747	0.43174	P	0.255	0.39216	B	0.079633	0.20972	N	0.405180	0.884569	0.35821	D	1.445	0.36358	L	1.03	0.40469	T	0.29	0.04161	N	0.252	0.28498	-0.9920	0.32089	T	0.040	0.17319	T	10	0.0057455003	0.00128	T	.	.	.	0.157	0.40909	.	.	0.436332547184	0.43250	0.366624680618726	0.36576	0.37248803291	0.38741	0.346873819828	0.17461	T	0.112894	0.42951	T	-0.479421	0.00745	T	-0.446495	0.28083	T	0.00767575077867669	0.00089	T	0.724128	0.33779	T	0.016027734	0.00172	0.04707668	0.06701	0.016027734	0.00171	0.04707668	0.06701	-4.783	0.34392	T	.	.	0.294	0.52516	B	.	.	1.744486	0.22197	15.52	0.49295590608697232	0.04186	0.57086	0.30285	D	AEFDBCI	0.072072	0.14370	N	-0.751242185936867	0.14599	0.728614	-0.787713587752975	0.14797	0.7750046	0.0316849638592592	0.14015	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.82	1.36	0.21139	0.812000	0.26869	.	.	-0.194000	0.09177	0.454000	0.26597	0.809000	0.27020	0.184000	0.21420	0.0:0.6162:0.2997:0.0841	8.136	0.30219	656	0.62345	.	.	.	.	.	rs148526102	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1282.98	36	chr19	15373212	.	C	T	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e-01;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=0.516;SOR=0.730	GT:AD:DP:GQ:PL	0/1:62,59:121:99:1297,0,1362	20	0	1	0
chr19	16904240	16904240	A	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon32:c.T4237A:p.F1413I,	Anterior segement dysgenesis 8, Autosomal recessive	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.957	D	0.569	P	0.000	U	1.000	D	3.935	H	.	.	0.008	D	0.406	T	0.754	4.062	20.9	2.72	1.035	7.278	10.981	0.564	0.0186259237595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.000422	0.44522	U	0.152420	0.980619	0.39685	D	.	.	.	0.3	0.58755	T	.	.	.	0.855	0.85132	0.008	0.82411	D	0.406	0.75550	T	9	0.8513963	0.84320	D	0.018626	0.40756	T	.	.	.	.	0.620428437143	0.61735	.	.	0.674172896119	0.59628	0.890575528145	0.95333	D	.	.	.	0.160235	0.70223	D	-0.00760983	0.69841	D	0.991162419319153	0.81426	D	0.847115	0.52772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.061159	0.60272	24.2	0.99028941746150201	0.50764	0.98972	0.89372	D	AEFBI	0.830774	0.74943	D	0.342259090041737	0.58331	4.004806	0.124249663518566	0.45793	2.836162	0.998999831923108	0.38161	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.72	2.72	0.31179	7.252000	0.77731	7.233000	0.57878	0.710000	0.85309	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	1.0:0.0:0.0:0.0	10.981	0.46709	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	34	chr19	16904240	.	A	T	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.240e-01;DP=790;ExcessHet=0.0000;FS=1.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=-1.240e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1047,0,1621	20	0	1	0
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2,0:5:75:0|1:17286674_G_T:75,0,120,84,126,210:17286674	6	0	6	1
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,2,0:3:36:0|1:17286674_G_T:81,84,126,0,42,36,84,126,42,126:17286674	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2,0:3:36:0|1:17286674_G_T:81,0,36,84,42,126:17286674	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,2,0:3:30:.:.:165,0,30,85,36,121	0	10	3	0
chr19	18589005	18589005	C	G	exonic	REX1BD	.	nonsynonymous SNV	REX1BD:NM_001100418:exon2:c.C110G:p.P37R	.	.	417	1093	11	1	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	.	.	0.845	N	2.075	M	.	.	-0.821	T	0.244	T	0.367	3.123	16.44	2.55	1.765	0.733	8.801	0.044	.	.	0.00179712	0.0101	0.0032	0.0111	0	0	0.0063	0.0119	0.0121	0.0009314	144	154602	rs202026240	0.0030	0.0029	0.0028	0.0032	0.0093	0.0030	0.0029	0.0087	0.0085	0.0005	0.0017	0.0054	0.0001	8.838e-05	0.0063	0.0028	0.0036	0.0093	0.0016	0.0016	0.0016	0.0016	0.0075	0.0015	0.0014	0.0055	0.0049	0.0006	0	0.0018	0.0066	0	0	0.0068	0.0019	0.0028	0.0075	0.013	0.53900	D	0.033	0.54934	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.845184	0.28575	N	.	.	.	.	.	.	-3.06	0.63090	D	0.223	0.25006	-0.8208	0.53883	T	0.244	0.61260	T	8	0.004998386	0.00108	T	.	.	.	0.044	0.11924	.	.	0.326074293725	0.32213	0.09538520792044904	0.09470	1.30046479418	0.83003	.	.	.	0.110123	0.42456	T	-0.359599	0.04152	T	-0.282351	0.46564	T	0.0255651805281062	0.01347	T	0.759324	0.38363	T	0.17989048	0.39083	0.31082734	0.57092	0.17989048	0.39082	0.31082734	0.57091	-2.679	0.07128	T	.	.	0.361	0.57268	A	.;.	.;.	3.899462	0.56795	23.8	0.99577808731653061	0.72802	0.26049	0.22880	N	ALL	0.152649	0.27737	N	0.00751912462164206	0.42196	2.537942	-0.0668757576839432	0.36769	2.144052	0.999999981318279	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.69	2.55	0.29757	0.303000	0.18965	0.845000	0.22080	0.469000	0.21855	0.010000	0.18352	0.000000	0.08366	0.401000	0.26804	0.2232:0.7768:0.0:0.0	8.801	0.34066	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	33	chr19	18589005	.	C	G	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-3.010e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1383,0,1328	20	0	1	0
chr19	19629977	19629977	C	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_001288998:exon20:c.G2812A:p.E938K	.	.	.	.	.	.	.	.	.	.	.	2211585	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.959	D	0.001	N	0.640	N	0.895	L	1.86	T	-1.014	T	0.089	T	0.52	4.204	21.8	3.58	2.287	3.371	11.012	0.127	0.0137029050972	0.0002	0.000199681	7.216e-05	0.0001	0	0	0	2.116e-05	0	0.0003	4.53e-05	7	154602	rs151053786	2.403e-05	2.394e-05	1.775e-05	3.038e-05	0.0005	1.745e-05	1.544e-05	0.0001	7.586e-05	8.969e-05	0	0	2.527e-05	0	0.0005	1.351e-05	3.322e-05	0.0001	4.597e-05	4.593e-05	3.854e-05	5.373e-05	0.0002	2.108e-05	1.526e-05	3.243e-05	1.91e-05	9.623e-05	0	0	0	0	0	0	2.941e-05	0	0.0002	0.0	0.91255	D	0.112	0.37449	T	0.999	0.77913	D	0.959	0.70163	D	0.001367	0.39242	N	0.000000	0.64043	0.30620	N	1.845	0.48678	L	1.86	0.25018	T	-0.08	0.08187	N	0.233	0.46368	-1.0135	0.25816	T	0.089	0.34271	T	10	0.10396734	0.19141	T	0.013703	0.33301	T	0.127	0.34888	.	.	0.501940320817	0.49831	0.47039149095492294	0.46958	0.573740725089	0.53422	0.566750884056	0.48219	T	0.009234	0.08422	T	-0.261369	0.12740	T	-0.328502	0.41635	T	0.155622714624975	0.17542	T	0.794021	0.43594	T	0.07952699	0.18172	0.15896401	0.37097	0.07952699	0.18171	0.15896401	0.37096	-5.91	0.46969	T	.	.	0.074	0.08851	B	.;.	.;.	4.228690	0.64023	24.7	0.99892436676358609	0.96589	0.84895	0.43989	D	AEFDBHCI	0.216673	0.34189	N	0.243956916290664	0.53340	3.50337	0.155056186014813	0.47411	2.971682	0.999915777167327	0.45857	0.712529	0.81865	0	0.702456	0.74545	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	3.58	3.58	0.40133	3.397000	0.52317	.	.	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.341000	0.25455	0.0:1.0:0.0:0.0	11.012	0.46885	437	0.80299	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	668.98	34	chr19	19629977	.	C	T	668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.534;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.42;ReadPosRankSum=0.726;SOR=0.634	GT:AD:DP:GQ:PL	0/1:42,29:71:99:683,0,1077	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:55:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:554,554,554,55,55,0:20624327	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:55:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:554,554,554,55,55,0:20624327	0	4	3	7
chr19	20624804	20624804	G	C	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.C1073G:p.T358R,	.	.	423	1030	69	0	0	69	0.0324096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.049	B	0.026	B	.	.	1.000	N	-0.515	N	.	.	-0.994	T	0.023	T	0.213	-2.109	0.006	-1.8	-0.794	-12.371	2.796	0.010	0.00052238757973	.	.	0.0029	0.0034	0.0017	0.0005	0.0015	0.0031	0.0022	0.0044	3.84e-05	1	26028	rs201684374	2.334e-05	0.0006	2.869e-05	1.794e-05	2.521e-05	1.68e-05	1.482e-05	3e-07	1.1e-07	0	0	3.839e-05	2.521e-05	0.0006	0	1.803e-06	0	1.162e-05	0.0005	0.0094	0.0004	0.0006	0.0009	0.0004	0.0004	0.0003	0.0003	0.0005	0.0036	0.0005	0.0003	0.0006	0.0005	0	0.0004	0.0010	0.0009	.	.	.	0.898	0.04587	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	-1.33	0.00679	N	3.18	0.07478	T	.	.	.	0.078	0.05287	-0.9935	0.31696	T	0.023	0.09696	T	8	0.010496229	0.00233	T	5.22E-4	0.00174	T	.	.	.	.	0.124217242631	0.12060	0.014608698947642334	0.01417	0.253056736109	0.27872	.	.	.	0.00116	0.00668	T	-0.335464	0.05708	T	-0.719647	0.04813	T	0.0263409838080406	0.01452	T	0.0307969	0.00205	T	0.05529088	0.10726	0.041683216	0.04792	0.05529088	0.10725	0.041683216	0.04792	-5.04	0.37271	T	.	.	0.180	0.44201	B	.;.	.;.	-0.312537	0.02564	0.311	0.10407538250522598	0.00130	0.00409	0.02034	N	AEFBHCI	0.029335	0.02749	N	-2.04734225397827	0.00167	0.007157553	-2.12141737029828	0.00167	0.007357579	4.19159266624134E-6	0.01202	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	0.898	-1.8	0.07480	-9.429000	0.00015	.	.	-0.591000	0.04649	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4716:0.2552:0.2732:0.0	2.796	0.05071	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	453.8	150	chr19	20624804	.	G	C	453.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.17;DP=2963;ExcessHet=0.1072;FS=15.904;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=58.80;MQRankSum=-4.323e+00;QD=1.79;ReadPosRankSum=0.994;SOR=2.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,9:49:99:0|1:20624804_G_C:237,0,1496:20624804	18	0	2	1
chr19	20624831	20624831	G	T	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.C1046A:p.A349D,	.	.	431	1026	65	0	0	65	0.0307038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.35	B	0.521	P	.	.	1.000	N	2	M	.	.	-0.798	T	0.160	T	0.137	1.212	9.921	-0.351	0.284	-0.266	2.164	0.053	0.0029372711923	.	.	0.0007	0.0012	0.0005	0.0001	0.0002	0.0008	0.0011	0.0004	.	.	.	rs200037994	5.483e-06	0.0004	6.82e-06	4.133e-06	2.521e-05	2.36e-06	1.71e-06	.	.	0	0	0	2.521e-05	0.0001	0	0	0	0	0.0003	0.0086	0.0002	0.0004	0.0008	0.0002	0.0002	0.0003	0.0002	0.0004	0.0012	0.0003	0.0003	0.0008	0.0002	0	0.0002	0.0010	0.0004	.	.	.	0.028	0.63109	D	0.35	0.33644	B	0.521	0.48239	P	.	.	.	.	1	0.08975	N	1.76	0.45711	L	1.26	0.36330	T	.	.	.	0.083	0.06990	-0.7977	0.55280	T	0.160	0.49413	T	8	0.047144234	0.03994	T	0.002937	0.06250	T	.	.	.	.	0.379881503574	0.37595	0.016107731133111286	0.01566	0.344841452812	0.36407	.	.	.	0.030734	0.21715	T	-0.280055	0.10662	T	-0.640056	0.09664	T	0.143846975603257	0.16602	T	0.0109989	0.00062	T	0.5628548	0.70667	0.3956977	0.64231	0.5628548	0.70668	0.3956977	0.64231	-8.255	0.62794	D	.	.	0.468	0.63076	A	.;.	.;.	1.739355	0.22131	15.49	0.97389007560457919	0.33711	0.02848	0.07604	N	AEFBHCI	0.039414	0.05722	N	-0.725798739957691	0.15299	0.7697871	-0.964231783067838	0.10595	0.5346012	1.29106194834359E-6	0.01202	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	0.898	-0.351	0.11976	-2.347000	0.01175	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3015:0.3473:0.3512:0.0	2.164	0.03599	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	414.11	150	chr19	20624831	.	G	T	414.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.26;DP=2918;ExcessHet=0.1072;FS=21.280;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.99;MQRankSum=-4.476e+00;QD=1.60;ReadPosRankSum=-2.217e+00;SOR=2.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,8:46:99:0|1:20624804_G_C:222,0,1463:20624804	19	0	2	0
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2164.49	46	chr19	21383393	.	G	T,*	2164.49	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=0.252;DP=1021;ExcessHet=0.1217;FS=4.260;InbreedingCoeff=0.2222;MLEAC=3,3;MLEAF=0.071,0.071;MQ=59.82;MQRankSum=0.00;QD=6.66;ReadPosRankSum=0.637;SOR=0.514	GT:AD:DP:GQ:PL	1/2:0,26,19:45:99:1469,761,882,776,0,992	16	0	2	0
chr19	23362723	23362723	T	C	exonic	ZNF91	.	nonsynonymous SNV	ZNF91:NM_001300951:exon3:c.A160G:p.I54V	.	.	711	809	2	0	0	2	0.00123457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.067	B	0.088	B	.	.	1.000	D	0.135	N	5.71	T	-0.896	T	0.007	T	0.062	-0.649	1.142	0.131	0.148	-2.275	.	0.003	0.00255579281556	0.0019	0.00159744	0.0030	0.0005	0.0031	0	0.0003	0.0042	0.0027	0.0021	0.0024838	384	154602	rs139015019	0.0023	0.0022	0.0023	0.0023	0.0055	0.0022	0.0022	0.0039	0.0034	0.0002	0.0029	0.0086	0	0.0006	0.0055	0.0023	0.0028	0.0014	0.0024	0.0024	0.0025	0.0023	0.0057	0.0022	0.0021	0.0047	0.0043	0.0004	0	0.0057	0.0069	0	0.0005	0.0342	0.0031	0.0019	0.0017	0.638	0.24277	T	0.578	0.23776	T	0.067	0.23653	B	0.011	0.29688	B	.	.	.	.	0.999999	0.58761	D	0.075	0.08292	N	3.47	0.05188	T	-0.14	0.18248	N	0.038	0.02559	-0.8956	0.48427	T	0.007	0.02518	T	8	0.0066034496	0.00150	T	0.002556	0.05121	T	0.003	0.00094	.	.	0.191931220699	0.18833	0.0029191563434631503	0.00271	0.165805969666	0.18709	0.406939864159	0.26033	T	0.001538	0.00977	T	-0.709752	0.00032	T	-0.793442	0.02071	T	0.00265291932436546	0.00028	T	0.0341966	0.00226	T	0.0320724	0.03165	0.04305648	0.05269	0.0320724	0.03164	0.04305648	0.05269	-1.584	0.50186	T	.	.	0.086	0.25000	B	.;.	.;.	-1.024714	0.00737	0.022	0.39929457389530015	0.02786	0.00522	0.02430	N	AEFBI	0.037023	0.05026	N	-1.26191821170363	0.04145	0.186499	-1.34647719909594	0.03847	0.1803098	2.50119927520373E-4	0.06141	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	0.131	0.131	0.14055	-2.957000	0.00740	.	.	-1.993000	0.00453	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1504.11	38	chr19	23362723	.	T	C	1504.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.387;DP=967;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-6.330e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:41,42:83:99:970,0,924	19	0	2	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q,	.	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.046	B	0.011	B	0.546	N	1.000	N	1.385	L	1.92	T	-1.048	T	0.066	T	0.045	3.628	18.46	-6.97	-1.575	-0.317	3.396	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	100.78	62	chr19	32999594	.	C	T	100.78	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.89;DP=2162;ExcessHet=0.3300;FS=7.171;InbreedingCoeff=-0.0697;MLEAC=2;MLEAF=0.048;MQ=53.65;MQRankSum=-4.247e+00;QD=0.32;ReadPosRankSum=-2.745e+00;SOR=1.468	GT:AD:DP:GQ:PL	0/1:130,16:146:4:4,0,3749	18	0	3	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X,	.	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.340	40	4.72	2.174	8.944	17.685	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2050.0	174	chr19	32999679	.	G	A	2050.0	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.491e+00;DP=3802;ExcessHet=4.7172;FS=2.492;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=54.90;MQRankSum=-6.014e+00;QD=1.13;ReadPosRankSum=2.20;SOR=0.676	GT:AD:DP:GQ:PL	0/1:148,46:194:99:593,0,3759	12	0	9	0
chr19	34300591	34300591	G	A	exonic	GARRE1	.	nonsynonymous SNV	GARRE1:NM_014686:exon2:c.G118A:p.A40T,	.	.	430	1048	43	1	0	45	0.0210182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	0.000	N	0.904	D	-0.805	N	.	.	-1.078	T	0.044	T	0.056	0.012	4.074	1.48	0.713	3.064	7.279	0.172	.	0.0015	0.00878594	0.0065	0.0003	0.0014	0	0.0018	0.0032	0.0100	0.0325	0.0001153	3	26028	rs151200468	0.0041	0.0041	0.0030	0.0052	0.0322	0.0040	0.0040	0.0312	0.0308	0.0003	0.0013	0.0104	7.557e-05	0.0018	0.0113	0.0021	0.0051	0.0322	0.0031	0.0031	0.0023	0.0039	0.0381	0.0028	0.0027	0.0336	0.0319	0.0005	0	0.0025	0.0121	0	0.0018	0	0.0022	0.0066	0.0381	0.768	0.03402	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000035	0.55875	N	0.159324	0.904177	0.36245	D	-0.46	0.02758	N	.	.	.	1.2	0.01078	N	0.055	0.02658	-1.0783	0.07681	T	0.044	0.19029	T	9	0.003199309	0.00054	T	.	.	.	0.172	0.43662	.	.	0.043077524339	0.03247	0.19238402303310173	0.19156	0.227004266067	0.25252	0.530864715576	0.43156	T	0.018492	0.14898	T	-0.611079	0.00125	T	-0.626174	0.10706	T	0.00255174078607371	0.00027	T	0.824218	0.48580	T	0.0382888	0.05073	0.07576153	0.16713	0.0382888	0.05073	0.07576153	0.16713	-3.316	0.13945	T	.	.	0.060	0.00904	B	.	.	1.931464	0.24533	16.43	0.83865513919071555	0.14963	0.80372	0.40027	D	AEFDGBI	0.126563	0.24355	N	-0.448880095827538	0.23778	1.279312	-0.243438504701772	0.29997	1.685272	0.900097373006502	0.26067	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	1.48	0.21900	3.069000	0.49724	5.098000	0.47411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.444:0.0:0.556:0.0	7.279	0.25476	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	0.04762	3275.11	33	chr19	34300591	.	G	A	3275.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.092;DP=961;ExcessHet=0.1072;FS=1.469;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=1.32;SOR=0.806	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1277,0,1393	19	0	2	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K,	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1023	424	67	8	566	0.214286	.	.	142703	not_specified|Brugada_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.005	B	.	.	1.000	N	.	.	-2.5	D	-0.696	T	0.422	T	0.055	1.698	11.64	1.84	0.750	0.862	5.129	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.1429	11159.49	111	chr19	35034040	.	G	C,A	11159.49	.	AC=4,2;AF=0.095,0.048;AN=42;BaseQRankSum=-5.360e-01;DP=1237;ExcessHet=1.7912;FS=0.520;InbreedingCoeff=-0.1667;MLEAC=4,2;MLEAF=0.095,0.048;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-2.200e-02;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,43,0:77:99:0|1:35034035_C_A:1669,0,1298,1772,1428,3199:35034035	15	0	4	0
chr19	35039676	35039676	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon5:c.G632A:p.C211Y	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	188707	Cardiovascular_phenotype|Developmental_and_epileptic_encephalopathy,_52|not_provided|Brugada_syndrome_5	MedGen:CN230736|MONDO:MONDO:0033361,MedGen:C4479236,OMIM:617350|MedGen:C3661900|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.995	D	0.979	D	0.000	D	1.000	D	2.175	M	-4.78	D	1.027	D	0.944	D	0.799	4.391	23.2	3.91	2.299	6.863	8.254	0.666	0.279023410017	0.0003	0.000399361	0.0005	0	0.0012	0	0	0.0005	0.0044	0.0004	0.0004075	63	154602	rs150721582	0.0003	0.0003	0.0002	0.0003	0.0088	0.0003	0.0003	0.0069	0.0062	0.0005	0.0009	0	0	3.744e-05	0.0088	0.0002	0.0008	0.0005	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	4.81e-05	0	0.0003	0	0	0	0.0102	0.0003	0.0014	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.165	0.60562	M	-4.78	0.98140	D	-4.77	0.80425	D	0.764	0.82057	1.027	0.97657	D	0.944	0.98156	D	10	0.47279036	0.59964	T	0.279023	0.90162	D	0.666	0.87576	.	.	0.996533669744	0.99649	.	.	.	.	.	.	.	0.521603	0.83280	D	0.118239	0.66195	D	0.321652	0.89160	D	0.406165271997452	0.29174	T	0.936606	0.78939	D	0.756248	0.81232	0.71066374	0.82932	0.8196357	0.85196	0.8592326	0.92127	-3.744	0.19970	T	.	.	0.929	0.87684	P	.;.;.;.	.;.;.;.	5.210044	0.87424	29.2	0.99741752268504469	0.83555	0.87531	0.47101	D	AEFDBCI	0.847072	0.76393	D	0.716296007391641	0.80701	7.352864	0.670035857781756	0.80110	7.226618	0.999999962124338	0.74766	0.615465	0.37627	0	0.626922	0.53725	0	0.584781	0.30282	0	0.655142	0.61905	0	.	.	4.95	3.91	0.44383	7.152000	0.77009	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.1063:0.0:0.8937:0.0	8.254	0.30904	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	939.98	37	chr19	35039676	.	G	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=798;ExcessHet=0.0000;FS=0.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-8.130e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/1:39,42:81:99:954,0,855	20	0	1	0
chr19	35800100	35800100	C	T	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378292:exon9:c.G1165A:p.E389K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.001	B	0.004	B	.	.	1.000	D	1.1	L	1.42	T	-1.066	T	0.044	T	0.108	2.454	14.17	1.79	0.306	0.452	8.018	0.057	0.00368102551178	7.7e-05	.	8.577e-05	0	0	0	0	3.913e-05	0.0015	0.0004	5.17e-05	8	154602	rs142659188	3.289e-05	3.283e-05	1.908e-05	4.685e-05	0.0004	2.547e-05	2.253e-05	0.0003	0.0002	2.99e-05	0	0	0	0	0	1.26e-05	1.659e-05	0.0004	3.285e-05	3.283e-05	5.137e-05	1.345e-05	4.41e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.41e-05	0.0005	0	0.289	0.15047	T	0.323	0.18959	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	.	.	.	1.42	0.33189	T	-1.06	0.27669	N	0.126	0.11912	-1.0662	0.10269	T	0.044	0.19070	T	9	0.061967105	0.07850	T	0.003681	0.08496	T	0.057	0.16321	.	.	0.112648838833	0.10856	0.2291621732928799	0.22831	0.156148598742	0.17626	0.343678891659	0.16987	T	0.00419	0.03601	T	-0.504859	0.00537	T	-0.66125	0.08182	T	0.0429128305634155	0.04221	T	0.457954	0.13172	T	0.043882564	0.06918	0.067599505	0.14007	0.043882564	0.06917	0.067599505	0.14007	-4.182	0.26490	T	.	.	0.076	0.06159	B	.	.	1.021136	0.14010	10.57	0.9918703175062773	0.54848	0.22640	0.21814	N	AEFCI	0.204947	0.33134	N	-0.859604591220588	0.11815	0.5722509	-0.813880117842587	0.14160	0.7384194	1.30093334602491E-4	0.05386	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.12	1.79	0.23992	0.423000	0.21032	-0.113000	0.11807	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.796000	0.37562	0.0:0.7196:0.0:0.2804	8.018	0.29556	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1313.98	33	chr19	35800100	.	C	T	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-2.130e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1328,0,1394	20	0	1	0
chr19	37885345	37885345	G	A	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.C8326T:p.R2776W	.	.	.	.	.	.	.	.	.	.	.	1239030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	.	.	0.858	N	0.975	L	0.93	T	-1.111	T	0.017	T	0.464	1.568	11.20	3.83	2.692	0.932	8.410	0.151	.	.	0.0245607	0.0063	0.0022	0.0396	0.0654	0	0.0001	0.0174	0.0082	0.0030595	473	154602	rs117520417	0.0040	0.0039	0.0042	0.0039	0.0696	0.0040	0.0039	0.0673	0.0664	0.0008	0.0696	0	0.0576	0	0	6.766e-05	0.0071	0.0076	0.0070	0.0070	0.0062	0.0080	0.0689	0.0067	0.0065	0.0631	0.0607	0.0017	0	0.0372	0	0.0689	0	0	0.0001	0.0109	0.0091	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	0.858376	0.28393	N	.	.	.	0.93	0.44065	T	-3.94	0.73378	D	0.478	0.51315	-1.1108	0.03002	T	0.017	0.06855	T	9	0.0028811097	0.00046	T	.	.	.	0.151	0.39764	.	.	.	.	0.2841956475103223	0.28332	.	.	0.392634630203	0.24040	T	.	.	.	-0.46815	0.00873	T	-0.384393	0.35207	T	0.0507914978096562	0.05639	T	0.720728	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.41783	B	.;.	.;.	4.485774	0.70031	25.5	0.96955808771800434	0.31755	0.62522	0.31807	D	AEFGBCI	0.318396	0.42211	N	0.410487341846021	0.61998	4.408828	0.394013127577303	0.61194	4.316279	0.0110701759682301	0.12125	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.86	3.83	0.43287	0.992000	0.29268	.	.	0.676000	0.76740	0.994000	0.38300	0.995000	0.32472	0.990000	0.65344	0.1039:0.0:0.8961:0.0	8.410	0.31801	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1293.98	78	chr19	37885345	.	G	A	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=2086;ExcessHet=0.0000;FS=4.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-3.420e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1308,0,1179	20	0	1	0
chr19	37889059	37889059	C	A	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G4612T:p.A1538S	.	.	.	.	.	.	.	.	.	.	.	1168430	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.5	T	0.118	B	0.025	B	.	.	1.000	N	0.345	N	0.85	T	-1.078	T	0.006	T	0.04	1.192	9.844	0.46	0.197	-0.175	10.317	0.013	.	0.0013	0.024361	0.0056	0.0017	0.0381	0.0649	0	0.0002	0.0157	0.0077	0.0030401	470	154602	rs117923468	0.0040	0.0038	0.0042	0.0039	0.0697	0.0039	0.0039	0.0674	0.0664	0.0008	0.0697	0	0.0576	0	0	6.116e-05	0.0070	0.0073	0.0070	0.0070	0.0061	0.0080	0.0687	0.0067	0.0065	0.0628	0.0605	0.0017	0	0.0372	0	0.0687	0	0.0034	0.0001	0.0109	0.0087	0.194	0.20835	T	0.131	0.34596	T	0.118	0.26577	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	.	.	.	0.85	0.47130	T	0.22	0.04694	N	0.036	0.01068	-1.0781	0.07721	T	0.006	0.02131	T	9	0.0026799738	0.00041	T	.	.	.	0.013	0.01715	.	.	.	.	0.14072687596123543	0.13995	.	.	0.179036736488	0.00085	T	.	.	.	-0.718824	0.00028	T	-0.745304	0.03672	T	0.00154021766476613	0.00016	T	0.446455	0.12522	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17317	B	.;.	.;.	0.360647	0.07334	3.948	0.65942672752719744	0.07916	0.16607	0.19467	N	AEFGBI	0.065632	0.12813	N	-1.08438278733977	0.06930	0.3204538	-1.10941378194507	0.07519	0.3660862	0.0161617039132125	0.12799	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.85	0.46	0.15895	0.396000	0.20592	.	.	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6157:0.3843:0.0	10.317	0.42925	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	990.98	37	chr19	37889059	.	C	A	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.931;DP=1275;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-4.840e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1005,0,1326	20	0	1	0
chr19	38408864	38408864	-	AAG	exonic	FAM98C	.	stoploss	FAM98C:NM_001351675:exon6:c.786_787insAAG:p.*268delinsK*	.	.	422	1026	48	2	24	76	0.0247148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1039.05	48	chr19	38408861	.	CAAG	C,CAAGAAG	1039.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=834;ExcessHet=0.1072;FS=15.091;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.38;ReadPosRankSum=0.279;SOR=2.138	GT:AD:DP:GQ:PL	0/1:67,9,0:76:99:177,0,2764,379,2792,3171	19	0	1	0
chr19	39199259	39199259	T	C	exonic	NCCRP1	.	nonsynonymous SNV	NCCRP1:NM_001001414:exon4:c.T542C:p.M181T,	.	.	392	1127	3	0	0	3	0.0013292	.	.	2761078	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.982	D	0.824	P	0.001	D	0.865	D	1.39	L	1.64	T	-0.990	T	0.105	T	0.589	2.321	13.72	5.44	2.072	2.914	13.455	0.170	0.0118597431525	0.0005	0.000399361	0.0005	0	0	0	0	0.0007	0.0011	0.0013	0.0004786	74	154602	rs142595740	0.0004	0.0004	0.0003	0.0004	0.0012	0.0003	0.0003	0.0010	0.0009	5.976e-05	6.708e-05	0.0060	0	1.874e-05	0.0007	0.0002	0.0007	0.0012	0.0004	0.0004	0.0003	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	4.816e-05	0	0.0001	0.0072	0	0	0	0.0003	0.0005	0.0017	0.136	0.26085	T	0.495	0.11371	T	0.982	0.60036	D	0.824	0.59271	P	0.000692	0.42383	D	0.241353	0.865061	0.35458	D	2.135	0.59519	M	1.64	0.27822	T	-1.83	0.42957	N	0.768	0.76573	-0.9896	0.32702	T	0.105	0.38562	T	10	0.054880172	0.05912	T	0.01186	0.29900	T	0.170	0.43303	.	.	0.524271286562	0.52073	0.27961115996921126	0.27874	0.799004479911	0.66158	0.709340035915	0.68498	T	0.053513	0.29465	T	-0.365401	0.03834	T	-0.338183	0.40551	T	0.0384208523846295	0.03407	T	0.644736	0.25622	T	0.18203817	0.39403	0.21447904	0.46000	0.18203817	0.39403	0.21447904	0.45999	0.268	0.00267	T	.	.	0.763	0.75609	P	.	.	3.656223	0.51914	23.2	0.97192003793342707	0.32771	0.85183	0.44294	D	AEFDBHCIJ	0.356217	0.44768	N	0.36438547109801	0.59503	4.13027	0.398927654985679	0.61500	4.350823	0.975376205665939	0.29628	0.700653	0.57754	0	0.563428	0.19063	0	0.717052	0.78885	0	0.526665	0.08891	0	.	.	5.44	5.44	0.79348	3.232000	0.51003	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	13.455	0.60645	516	0.74704	F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	614.98	34	chr19	39199259	.	T	C	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.732e+00;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.34;ReadPosRankSum=-9.000e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:61,36:97:99:629,0,1404	20	0	1	0
chr19	39377629	39377629	G	A	exonic	SAMD4B	.	nonsynonymous SNV	SAMD4B:NM_001303614:exon7:c.G1249A:p.E417K	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.006	B	0.003	B	0.836	N	0.853	N	0.69	N	.	.	-1.070	T	0.089	T	0.233	1.128	9.596	4.72	2.449	2.972	13.056	0.096	.	.	0.00539137	0.0024	0	0.0003	0.0003	0	0	0.0011	0.0174	0.0021151	327	154602	rs529872635	0.0010	0.0010	0.0005	0.0015	0.0165	0.0010	0.0010	0.0157	0.0155	2.987e-05	0	0	5.038e-05	0	0.0005	5.396e-06	0.0010	0.0165	0.0008	0.0008	0.0004	0.0011	0.0228	0.0006	0.0006	0.0193	0.0181	4.812e-05	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0228	0.284	0.15303	T	0.876	0.03305	T	0.001	0.07471	B	0.001	0.04355	B	0.835986	0.06970	N	1.080090	0.852527	0.28475	N	1.61	0.41143	L	.	.	.	-0.54	0.16598	N	0.31	0.34981	-1.0702	0.09370	T	0.089	0.34243	T	9	0.003887415	0.00074	T	.	.	.	0.096	0.27654	.	.	0.043077524339	0.03247	0.30515390879934123	0.30428	0.827125518207	0.67455	0.418427348137	0.27621	T	0.008277	0.15646	T	-0.444437	0.01218	T	-0.397554	0.33668	T	0.0432727207089436	0.04288	T	0.839416	0.51368	T	0.10987287	0.25974	0.09558862	0.22678	0.10987287	0.25973	0.09558862	0.22678	-4.4	0.29557	T	.	.	0.083	0.12465	B	.;.;.;.	.;.;.;.	3.227909	0.44012	21.8	0.99381889872199336	0.61935	0.88254	0.48100	D	AEFDBI	0.365955	0.45394	N	-0.419508298916551	0.24785	1.34079	-0.24864995992771	0.29818	1.673699	0.991022421301499	0.32347	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	4.241000	0.58503	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	13.056	0.58390	749	0.51929	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1480.98	35	chr19	39377629	.	G	A	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=816;ExcessHet=0.0000;FS=2.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.067;SOR=0.933	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1495,0,1143	20	0	1	0
chr19	40015288	40015288	C	T	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.C1940T:p.T647M	.	.	.	.	.	.	.	.	.	.	.	3361108	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.004	B	.	.	1.000	N	1.735	L	1.26	T	-0.993	T	0.075	T	0.131	-0.050	3.758	0.395	0.181	-0.316	5.335	0.021	0.00613130787757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs941920679	1.915e-05	1.915e-05	2.042e-05	1.788e-05	0.0002	1.328e-05	1.144e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	0.0001	1.872e-05	0	9.892e-06	1.656e-05	1.159e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.417e-05	0	0	0	0.0002	0	0	0	0	0	0.02	0.49613	D	0.017	0.60337	D	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.725	0.18768	N	1.26	0.36330	T	-1.38	0.34198	N	0.073	0.05287	-0.9926	0.31933	T	0.075	0.30117	T	9	0.12815395	0.24376	T	0.006131	0.16052	T	0.021	0.04004	0.488	0.57257	0.343560092441	0.33966	0.02517770624857659	0.02468	0.0842060663455	0.09501	0.324194610119	0.14056	T	0.005334	0.04780	T	-0.473354	0.00810	T	-0.625568	0.10753	T	0.0354794620624607	0.02890	T	.	.	.	0.03306063	0.03450	0.038703963	0.03798	0.03306063	0.03450	0.038703963	0.03798	-7.979	0.60927	D	.	.	0.149	0.32992	B	.;.	.;.	1.508690	0.19383	14.24	0.95305808163981898	0.26632	0.04658	0.10332	N	AEFGBHCI	0.065629	0.12810	N	-0.949467425228378	0.09705	0.4604676	-1.01994484177979	0.09347	0.4644994	0.00109772286943897	0.08217	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	2.68	0.395	0.15527	-0.124000	0.10571	.	.	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.7112:0.0:0.2888	5.335	0.15257	769	0.49307	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1213.98	46	chr19	40015288	.	C	T	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=967;ExcessHet=0.0000;FS=1.552;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-2.610e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1228,0,1146	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,98,0:207:99:0|1:40667975_C_T:3470,0,4108,3702,4416,8193:40667975	4	8	8	0
chr19	42868881	42868881	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.G584A:p.R195Q	.	.	15	1459	46	2	0	50	0.0168464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.132	B	0.044	B	.	.	1.000	N	-0.345	N	2.99	T	-0.942	T	0.007	T	0.078	-0.336	2.408	-1.44	-0.781	0.482	2.353	0.013	0.000604984014835	0.0045	0.00259585	0.0053	0.0008	0.0047	0.0004	0.0017	0.0073	0.0046	0.0046	0.0019978	52	26028	rs148212160	0.0062	0.0062	0.0060	0.0063	0.0269	0.0061	0.0060	0.0230	0.0215	0.0015	0.0056	0.0290	7.566e-05	0.0017	0.0269	0.0062	0.0080	0.0045	0.0051	0.0051	0.0056	0.0045	0.0062	0.0048	0.0046	0.0057	0.0055	0.0009	0.0670	0.0058	0.0283	0.0002	0.0015	0.0204	0.0062	0.0090	0.0044	0.389	0.65419	T	0.39	0.33109	T	0.024	0.27209	B	0.023	0.23607	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.99	0.09262	T	0.04	0.08187	N	0.105	0.13198	-0.9417	0.42346	T	0.007	0.02321	T	9	0.0033926368	0.00059	T	6.05E-4	0.00274	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.086408958465541	0.08574	0.00866364585856	0.00788	.	.	.	5.36E-4	0.03393	T	-0.683374	0.00046	T	-0.75303	0.03369	T	3.38542813551612e-05	0.00000	T	0.70163	0.32905	T	0.029852921	0.02548	0.035667937	0.02861	0.029852921	0.02548	0.035667937	0.02861	-2.088	0.03533	T	.	.	0.077	0.13969	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.490925	0.01897	0.157	0.7445620437142858	0.10702	0.00188	0.01093	N	AEFI	0.024380	0.01501	N	-1.65265184355464	0.01024	0.04439887	-1.70450507736129	0.01118	0.05023568	1.53626025775916E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.63	-1.44	0.08391	0.571000	0.23372	0.432000	0.18335	-2.143000	0.00376	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.4426:0.2838:0.0:0.2736	2.353	0.04027	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6346.11	35	chr19	42868881	.	C	T	6346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.88;DP=1560;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=43.93;MQRankSum=0.255;QD=13.19;ReadPosRankSum=0.375;SOR=0.681	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1459,0,1274	19	0	2	0
chr19	42929524	42929524	G	C	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon2:c.C261G:p.N87K	.	.	10	1462	47	3	0	53	0.0178032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00439297	0.0059	0.0010	0.0048	0.0024	0.0017	0.0078	0.0066	0.0060	0.0055885	864	154602	rs146569565	0.0065	0.0065	0.0063	0.0066	0.0307	0.0064	0.0063	0.0270	0.0256	0.0016	0.0057	0.0291	0.0010	0.0017	0.0307	0.0064	0.0089	0.0057	0.0053	0.0054	0.0058	0.0049	0.0065	0.0050	0.0049	0.0060	0.0058	0.0009	0.0680	0.0058	0.0289	0.0023	0.0016	0.0204	0.0065	0.0085	0.0063	.	.	.	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07535	.	.	.	.	.	.	.	0.004633993	0.00097	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.08514320760388049	0.08448	.	.	0.434188365936	0.29781	T	0.003173	0.02576	T	-0.518392	0.00450	T	-0.507023	0.21621	T	.	.	.	0.0775922	0.01553	T	0.04992332	0.08939	0.08294131	0.18968	0.04992332	0.08938	0.08294131	0.18968	-0.974	0.00971	T	.	.	0.076	0.22573	B	.;.;.	.;.;.	-0.905720	0.00916	0.034	0.24092682129794563	0.01049	0.00005	0.00104	N	AEFBI	0.014013	0.00207	N	.	.	.	.	.	.	0.00201933433724678	0.09087	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.36	0.167	0.14292	0.309000	0.19094	-3.405000	0.02812	-1.286000	0.01263	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6421:0.3579:0.0	5.471	0.15967	754	0.51307	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6225.11	36	chr19	42929524	.	G	C	6225.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.792;DP=2945;ExcessHet=0.1072;FS=1.739;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.89;MQRankSum=-2.715e+00;QD=11.28;ReadPosRankSum=1.04;SOR=0.815	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1535,0,1748	19	0	2	0
chr19	44388036	44388042	ACTTCTT	-	exonic	ZNF285	.	frameshift deletion	ZNF285:NM_001291489:exon4:c.203_209del:p.Q68Rfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.309e-05	0	0	0	0	6.01e-05	0	0	3.84e-05	1	26028	rs747041635	2.394e-05	2.394e-05	1.77e-05	3.025e-05	6.709e-05	1.739e-05	1.539e-05	1.914e-05	1.661e-05	0	6.709e-05	0	0	0	0	2.698e-05	3.312e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1550.94	45	chr19	44388035	.	CACTTCTT	C	1550.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.428e+00;DP=1034;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=2.15;SOR=0.788	GT:AD:DP:GQ:PL	0/1:66,42:108:99:1565,0,2639	20	0	1	0
chr19	48149836	48149836	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon7:c.C499T:p.R167W	DNA ligase I deficiency (3)	.	414	1107	1	0	0	1	0.000451467	.	.	1653011	LIG1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.018	B	0.008	B	0.001	D	0.996	D	1.87	L	2.91	T	-0.820	T	0.130	T	0.684	1.322	10.34	3.89	2.468	1.794	11.663	0.242	0.0186592641523	.	0.000998403	0.0003	0	0	0.0033	0.0002	7.757e-05	0.0023	6.327e-05	0.0002975	46	154602	rs55686525	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0025	2.988e-05	0	0	0.0031	0.0004	0.0002	7.017e-05	0.0004	0.0002	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	2.41e-05	0	0	0	0.0041	0.0004	0	0.0002	0	0.0004	0.053	0.38863	T	0.04	0.52389	D	0.018	0.17786	B	0.003	0.13708	B	0.000541	0.43581	D	0.190381	0.988674	0.43151	D	2.125	0.59049	M	0.42	0.58468	T	-3.12	0.64826	D	0.386	0.42737	-0.8203	0.53915	T	0.130	0.43907	T	10	0.009225637	0.00208	T	0.018659	0.40796	T	0.242	0.54781	.	.	0.469989170139	0.46626	0.401887714124782	0.40104	0.302341161422	0.32561	0.499039411545	0.38693	T	0.630346	0.88535	D	-0.267324	0.12056	T	-0.158875	0.58453	T	0.077280349999158	0.09636	T	0.867413	0.59782	D	0.057801496	0.11550	0.07397428	0.16134	0.057801496	0.11549	0.07397428	0.16133	-11.541	0.82961	D	.	.	0.131	0.44358	B	.;.;.;.	.;.;.;.	3.582904	0.50517	23.0	0.99393530791717755	0.62474	0.82847	0.42021	D	AEFDBI	0.303685	0.41159	N	-0.177846749731187	0.34059	1.939468	-0.104450424094166	0.35211	2.034393	0.0194566679801555	0.13164	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.89	3.89	0.44098	2.086000	0.41268	4.141000	0.42089	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.474000	0.28430	0.0:0.0:1.0:0.0	11.663	0.50622	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	997.98	33	chr19	48149836	.	G	A	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.791;DP=761;ExcessHet=0.0000;FS=1.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.617;SOR=0.797	GT:AD:DP:GQ:PL	0/1:30,42:72:99:1012,0,592	20	0	1	0
chr19	48443162	48443162	C	G	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.C3236G:p.A1079G,	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.013	B	0.003	B	0.202	N	1.000	N	0	N	2.71	T	-1.015	T	0.021	T	0.229	-1.507	0.017	1.39	1.087	0.633	8.390	0.042	0.0108368643589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.791e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.354	0.17268	T	0.013	0.16609	B	0.003	0.08700	B	0.202408	0.03329	N	2.474360	1	0.08975	N	0	0.06538	N	2.71	0.12055	T	-0.16	0.09460	N	0.182	0.19728	-1.0152	0.25272	T	0.021	0.08732	T	10	0.05956039	0.07178	T	0.010837	0.27831	T	0.042	0.11227	0.175	0.08135	0.479878309988	0.47616	0.2617113628082863	0.26084	.	.	0.837130248547	0.87656	D	0.075337	0.35154	T	-0.287901	0.09848	T	-0.651326	0.08862	T	0.0205275695389285	0.00752	T	0.344066	0.07525	T	0.065578416	0.14029	0.10112776	0.24200	0.065578416	0.14029	0.10112776	0.24199	-3.33	0.14126	T	.	.	0.050	0.00145	B	.	.	1.099557	0.14838	11.37	0.67304134787835246	0.08314	0.01936	0.05897	N	AEFDBI	0.024655	0.01562	N	-1.07506332358685	0.07105	0.3290878	-1.10628436869591	0.07580	0.369235	0.995790733793858	0.34330	0.59774	0.34471	0	0.578056	0.33634	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	1.39	1.39	0.21325	0.299000	0.18892	.	.	0.418000	0.20770	0.001000	0.13787	.	.	0.052000	0.15357	0.0:1.0:0.0:0.0	8.390	0.31685	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	51.23	6	chr19	48443162	.	C	G	51.23	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.501e+00;DP=177;ExcessHet=0.0000;FS=20.166;InbreedingCoeff=-0.1387;MLEAC=1;MLEAF=0.031;MQ=59.83;MQRankSum=-2.346e+00;QD=1.25;ReadPosRankSum=-1.290e-01;SOR=3.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,6:41:62:0|1:48443157_C_G:62,0,1106:48443157	15	0	1	5
chr19	48939471	48939471	C	T	exonic	DHDH	.	nonsynonymous SNV	DHDH:NM_014475:exon4:c.C389T:p.P130L,	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.77	H	-0.49	T	0.558	D	0.662	D	0.887	4.750	26.6	5.12	2.838	5.072	16.461	0.687	0.077696889571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.125	0.97446	H	-0.49	0.70365	T	-9.62	0.98541	D	0.626	0.64733	0.558	0.91344	D	0.662	0.88280	D	10	0.83529687	0.82686	D	0.077697	0.72832	D	0.687	0.88585	0.764	0.89213	0.785456996267	0.78346	0.7595533039975413	0.75903	0.601118397083	0.55162	0.690645694733	0.65799	T	0.368944	0.73374	T	0.35275	0.86693	D	0.268925	0.86517	D	0.999960899353027	0.99918	D	0.873613	0.62583	D	0.8507039	0.87388	0.6976977	0.82196	0.8507039	0.87389	0.6976977	0.82197	-13.392	0.90913	D	.	.	0.392	0.66609	A	.;.	.;.	4.620227	0.73354	26.0	0.9987986259803836	0.95653	0.95099	0.63433	D	AEFI	0.591095	0.58733	D	0.902730120219812	0.91893	11.12058	0.800418153050571	0.89820	10.13596	0.999999979016124	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	4.356000	0.59205	5.331000	0.48318	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	16.461	0.83887	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	36	chr19	48939471	.	C	T	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.095e+00;DP=746;ExcessHet=0.0000;FS=2.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-3.160e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/1:30,35:65:99:702,0,702	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,4,0,0:41:44:.:.:44,0,1337,155,1349,1504,155,1349,1504,1504	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,4,0,0:41:44:.:.:44,0,1337,155,1349,1504,155,1349,1504,1504	5	4	8	0
chr19	49651191	49651193	GAG	-	exonic	SCAF1	.	nonframeshift deletion	SCAF1:NM_021228:exon7:c.802_804del:p.E282del,	.	.	374	1145	1	0	2	3	0.000436491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1323.94	35	chr19	49651190	.	TGAG	T	1323.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=844;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=0.420;SOR=1.003	GT:AD:DP:GQ:PL	0/1:51,36:87:99:1338,0,1997	20	0	1	0
chr19	49653452	49653454	GGA	-	exonic	SCAF1	.	nonframeshift deletion	SCAF1:NM_021228:exon7:c.3063_3065del:p.E1039del,	.	.	401	1117	1	0	3	4	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0487	.	0.0093	0.0086	0.0119	0.0080	0.0053	0.0090	0.0057	0.0122	0.0001537	4	26028	rs765192224	0.0008	0.0088	0.0007	0.0010	0.0041	0.0008	0.0008	0.0036	0.0034	0.0009	0.0041	0.0014	0.0013	0.0021	0.0004	0.0006	0.0010	0.0018	5.938e-05	9.204e-05	5.156e-05	6.757e-05	0.0002	3.089e-05	2.218e-05	3.262e-05	1.923e-05	9.707e-05	0	0	0	0.0002	0	0	5.894e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	30.94	36	chr19	49653451	.	CGGA	C	30.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.088e+00;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.69;ReadPosRankSum=1.62;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,4:45:45:0|1:49653451_CGGA_C:45,0,1657:49653451	20	0	1	0
chr19	49894438	49894438	G	A	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon5:c.C286T:p.L96F	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.955	D	3.045	M	2.55	T	-0.787	T	0.132	T	0.547	3.548	18.10	5.24	2.462	2.777	14.309	0.261	0.0320379255106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.008	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000211	0.47681	D	0.137965	0.955112	0.37910	D	2.865	0.83145	M	2.55	0.13795	T	-3.26	0.65397	D	0.48	0.51494	-0.7875	0.55875	T	0.132	0.44386	T	10	0.8664882	0.85895	D	0.032038	0.53969	D	0.261	0.57352	0.849	0.95143	0.323342291347	0.31936	0.8784309327399817	0.87810	1.32933111588	0.83621	0.463100522757	0.33736	T	0.855844	0.96759	D	-0.0800425	0.39708	T	-0.352752	0.38889	T	0.984304964542389	0.75659	D	0.783222	0.41972	T	0.6524065	0.75492	0.6631823	0.80258	0.6524065	0.75494	0.6631823	0.80258	-9.18	0.68849	D	.	.	0.507	0.69464	A	.;.;.;.	.;.;.;.	4.555527	0.71734	25.7	0.99886809028036216	0.96204	0.73257	0.35836	D	AEFGBCI	0.267405	0.38411	N	0.688318699043721	0.78867	6.959	0.601578181357427	0.75056	6.243213	0.999999994069406	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.603688	0.36954	0	0.655142	0.61905	0	.	.	5.24	5.24	0.72863	2.082000	0.41230	11.635000	0.93737	0.618000	0.50648	0.992000	0.37556	1.000000	0.68203	0.845000	0.39915	0.0:0.0:1.0:0.0	14.309	0.65958	632	0.64850	Amine oxidase;.;.;Amine oxidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	998.98	40	chr19	49894438	.	G	A	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e-01;DP=802;ExcessHet=0.0000;FS=0.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-6.130e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1013,0,906	20	0	1	0
chr19	52155811	52155811	G	T	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.C1872A:p.N624K,	.	.	399	1121	2	0	0	2	0.000891266	.	.	2367107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.42	B	0.175	B	.	.	1.000	N	1.285	L	3.2	T	-0.946	T	0.014	T	0.024	-1.453	0.019	-2.38	-0.154	-5.959	3.308	0.019	0.000874464902175	7.8e-05	.	9.933e-05	0	0	0	0	0.0002	0	6.058e-05	9.06e-05	14	154602	rs368144666	4.378e-05	4.378e-05	4.22e-05	4.538e-05	0.0009	3.509e-05	3.193e-05	0.0003	0.0002	0	0	0	0	0	0.0009	4.227e-05	0.0001	4.638e-05	4.599e-05	4.594e-05	5.142e-05	4.032e-05	0.0004	2.109e-05	1.527e-05	7.307e-05	3.035e-05	0	0	0	0	0	0	0.0034	5.881e-05	0	0.0004	0.228	0.18434	T	0.803	0.04029	T	0.42	0.35330	B	0.175	0.35598	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.2	0.07236	T	-2.11	0.48020	N	0.072	0.04547	-0.9461	0.41632	T	0.014	0.05753	T	9	0.15268627	0.28836	T	8.74E-4	0.00777	T	0.019	0.03383	0.352	0.35084	0.0401082797425	0.02173	0.01583200748108693	0.01539	0.159749721989	0.18028	0.371885836124	0.21103	T	0.009745	0.08853	T	-0.582719	0.00185	T	-0.838144	0.01127	T	0.0469311089206507	0.04953	T	0.89491	0.63503	D	0.11957911	0.28155	0.07376008	0.16063	0.11957911	0.28154	0.07376008	0.16063	-6.493	0.50232	T	.	.	0.704	0.76236	P	.;.	.;.	0.674200	0.10428	7.148	0.79822677566616562	0.12916	0.00059	0.00440	N	AEFGBHCI	0.066663	0.13067	N	-1.14820824853762	0.05809	0.2657969	-1.3215682456839	0.04152	0.1952441	9.58611173263427E-5	0.04910	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.09	-2.38	0.06243	-1.219000	0.03083	.	.	0.565000	0.28586	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2696:0.0:0.4374:0.293	3.308	0.06594	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1151.98	33	chr19	52155811	.	G	T	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.106e+00;DP=1021;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-1.430e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1166,0,1423	20	0	1	0
chr19	52406603	52406603	C	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon6:c.C231A:p.N77K,	.	.	.	.	.	.	.	.	.	.	.	2326413	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	.	.	1.000	N	-0.88	N	5.72	T	-0.937	T	0.004	T	0.097	-2.138	0.005	-2.18	-0.589	-0.457	2.513	0.009	0.00114285529616	.	.	4.945e-05	0	0	0	0	8.997e-05	0	0	3.88e-05	6	154602	rs200968350	4.036e-05	4.036e-05	3.539e-05	4.538e-05	0.0005	3.179e-05	2.911e-05	0.0001	7.541e-05	0	0.0001	7.653e-05	0	0	0.0005	4.137e-05	4.968e-05	0	1.971e-05	1.969e-05	1.286e-05	2.688e-05	6.55e-05	5.24e-06	2.45e-06	.	.	0	0	6.55e-05	0	0	0	0	1.471e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.28	0.00734	N	5.67	0.04446	T	0.59	0.04380	N	0.062	0.06720	-0.9373	0.43041	T	0.004	0.01261	T	9	0.046301037	0.03805	T	0.001143	0.01410	T	0.009	0.00846	0.407	0.44066	0.152612264143	0.14878	0.00933358025716195	0.00896	0.00923564524657	0.00836	0.256540745497	0.04487	T	0.001823	0.01836	T	-0.506791	0.00523	T	-0.7899	0.02167	T	0.0222366707608776	0.00935	T	7.62424E-4	0.00083	T	0.03966257	0.05518	0.031351514	0.01713	0.03966257	0.05517	0.031351514	0.01713	-1.953	0.03008	T	.	.	0.093	0.17402	B	.;.;.;.;.	.;.;.;.;.	-0.809601	0.01088	0.048	0.16818184820262233	0.00466	0.00068	0.00484	N	AEFBI	0.018697	0.00587	N	-1.77482123297114	0.00610	0.02627857	-1.80024631071581	0.00758	0.03380613	1.82324969915364E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	1.47	-2.18	0.06643	-1.005000	0.03785	.	.	-1.027000	0.01708	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4177:0.2948:0.2876:0.0	2.513	0.04378	988	0.01987	Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1200.98	36	chr19	52406603	.	C	A	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.393e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1215,0,883	20	0	1	0
chr19	52881252	52881252	T	C	exonic	ZNF320	.	nonsynonymous SNV	ZNF320:NM_001351773:exon4:c.A874G:p.K292E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.461	P	0.295	B	.	.	1.000	N	0.89	L	-0.36	T	-0.923	T	0.169	T	0.049	0.858	8.474	-1.48	-0.463	-1.342	5.219	0.036	0.00359727187706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.23095	T	0.087	0.40747	T	0.461	0.36363	P	0.295	0.40843	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.36	0.68754	T	-1.9	0.44284	N	0.035	0.01004	-0.9230	0.45141	T	0.169	0.50939	T	9	0.09794438	0.17673	T	0.003597	0.08247	T	0.036	0.09122	0.497	0.58678	0.478905595755	0.47518	0.054910457566581646	0.05432	0.114385035191	0.12898	0.272336453199	0.06448	T	0.039494	0.25209	T	-0.25375	0.13642	T	-0.602271	0.12622	T	0.388565421104431	0.28510	T	0.651035	0.26183	T	0.11872674	0.27968	0.09191885	0.21635	0.11872674	0.27968	0.09191885	0.21635	-4.258	0.27584	T	.	.	0.283	0.51635	B	.;.;.	.;.;.	0.673545	0.10422	7.142	0.79090753745799569	0.12586	0.02547	0.07071	N	AEFBHCI	0.025808	0.01829	N	-1.0084883906883	0.08427	0.395077	-1.18930476526204	0.06088	0.2919705	3.61036144975406E-4	0.06668	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.74	-1.48	0.08286	-1.558000	0.02268	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.1878:0.4167:0.3955	5.219	0.14680	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	903.98	36	chr19	52881252	.	T	C	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.060e-01;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.29;ReadPosRankSum=1.40;SOR=0.757	GT:AD:DP:GQ:PL	0/1:67,42:109:99:918,0,1740	20	0	1	0
chr19	53456111	53456111	C	T	exonic	ZNF761;ZNF765-ZNF761	.	nonsynonymous SNV	ZNF761:NM_001289951:exon5:c.C1604T:p.S535L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204506878	6.89e-07	6.857e-07	1.371e-06	0	3.014e-05	0	0	.	.	3.014e-05	0	0	0	0	0	0	0	0	1.972e-05	1.97e-05	0	4.039e-05	7.245e-05	5.24e-06	2.45e-06	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.014	0.62352	D	0.83	0.46087	P	0.49	0.47330	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.17612427	0.32580	T	.	.	.	.	.	.	.	0.241078983079	0.23725	.	.	.	.	0.448776513338	0.31776	T	0.103446	0.41211	T	-0.216196	0.18514	T	-0.366799	0.37263	T	.	.	.	0.615039	0.23503	T	0.042513184	0.06460	0.07593269	0.16767	0.042513184	0.06460	0.07593269	0.16766	-7.192	0.55424	T	.	.	0.471	0.63438	A	.;.	.;.	0.752911	0.11226	7.858	0.31442423989134871	0.01772	0.06111	0.12088	N	AEFBCI	.	.	.	.	.	.	.	.	.	1.06985724240414E-5	0.01202	0.322412	0.05557	0	0.31918	0.05746	0	0.320204	0.05785	0	0.221052	0.04502	0	0.0488184	0.08217	1.14	1.14	0.19817	-0.000000	0.12910	.	.	-1.841000	0.00581	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2976:0.7024:0.0:0.0	6.161	0.19578	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1553.98	275	chr19	53456111	.	C	T	1553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=5299;ExcessHet=0.0000;FS=0.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.163e+00;SOR=0.624	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1568,0,1168	20	0	1	0
chr19	54155791	54155791	C	T	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.G725A:p.R242Q,	.	.	415	1100	7	0	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.062	B	0.009	B	0.000	D	0.942	D	2.175	M	0.93	T	-0.909	T	0.117	T	0.19	2.914	15.71	3.51	1.272	2.460	11.888	0.064	0.0182343459008	0.0012	0.000798722	0.0012	0	0.0005	0	0.0014	0.0016	0	0.0010	0.0009185	142	154602	rs147840420	0.0010	0.0010	0.0010	0.0010	0.0028	0.0010	0.0010	0.0018	0.0014	0.0001	0.0009	3.861e-05	2.523e-05	0.0007	0.0028	0.0011	0.0011	0.0009	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0006	0.0010	0.0010	0.0001	0	0.0009	0	0	0.0008	0	0.0012	0.0009	0.0010	0.062	0.36912	T	0.076	0.42614	T	.	.	.	.	.	.	0.000060	0.53742	D	0.128295	0.941604	0.37340	D	.	.	.	0.93	0.44065	T	-1.18	0.30140	N	0.191	0.20925	-0.9093	0.46940	T	0.117	0.41187	T	10	0.015659153	0.00329	T	0.018234	0.40224	T	0.064	0.18567	.	.	0.689310383108	0.68664	0.30883921664517056	0.30796	0.0285750860134	0.02937	0.374609172344	0.21491	T	.	.	.	-0.483914	0.00702	T	-0.503264	0.22009	T	0.0580716453120877	0.06862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14568	B	.	.	2.072634	0.26359	17.09	0.99831141992168482	0.91284	0.86931	0.46325	D	AEFDBHCI	0.237700	0.35994	N	-0.161699088804172	0.34737	1.986519	-0.0958454314900773	0.35561	2.058878	0.999996435405343	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.54	3.51	0.39297	1.869000	0.39156	.	.	0.599000	0.40250	0.075000	0.22209	0.000000	0.08366	0.618000	0.31844	0.0:0.9129:0.0:0.0871	11.888	0.51895	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3070.11	33	chr19	54155791	.	C	T	3070.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.16;DP=945;ExcessHet=0.1072;FS=2.673;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.326;SOR=0.546	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1389,0,1374	19	0	2	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,24,0:139:99:0|1:54633108_T_G:662,0,4696,1008,4768,5776:54633108	1	0	19	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:94,17:111:99:174,0,2282	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:41,14,0:55:99:211,0,1140,334,1182,1516	6	0	14	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,16,0:40:99:.:.:319,0,585,391,633,1024	10	4	5	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R	.	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.006	B	0.024	B	0.135	U	1.000	N	0.395	N	2.65	T	-1.000	T	0.021	T	0.122	-0.252	2.787	-1.57	-0.635	-1.621	2.076	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	513.42	37	chr19	54804844	.	A	G	513.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-5.090e-01;DP=1526;ExcessHet=1.1607;FS=2.426;InbreedingCoeff=-0.1348;MLEAC=5;MLEAF=0.119;MQ=59.00;MQRankSum=-1.152e+01;QD=0.68;ReadPosRankSum=-8.850e-01;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,7:98:20:0|1:54804844_A_G:20,0,3660:54804844	16	0	5	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L	.	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.055	B	0.007	U	1.000	N	0.995	L	2.62	T	-0.999	T	0.029	T	0.188	0.031	4.173	-2.81	-1.080	-0.485	5.745	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	719.03	37	chr19	54804865	.	G	T	719.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.45;DP=1630;ExcessHet=1.7912;FS=7.115;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.85;MQRankSum=-1.237e+01;QD=0.67;ReadPosRankSum=1.33;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,8:104:47:0|1:54804865_G_T:47,0,3960:54804865	15	0	6	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R	.	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.016	B	0.014	B	.	.	1.000	N	-0.165	N	2.75	T	-0.922	T	0.011	T	0.325	-2.184	0.005	1.42	0.897	-0.253	4.935	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	605.02	37	chr19	54804871	.	A	G	605.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.129;DP=1668;ExcessHet=1.7912;FS=5.545;InbreedingCoeff=-0.1665;MLEAC=6;MLEAF=0.143;MQ=58.89;MQRankSum=-1.263e+01;QD=0.54;ReadPosRankSum=1.81;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,8:111:26:0|1:54804865_G_T:26,0,4260:54804865	15	0	6	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:104,0,8:112:23:0|1:54804865_G_T:23,336,4703,0,4367,4343:54804865	8	1	9	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L	.	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.003	B	0.331	N	1.000	N	-0.67	N	5.87	T	-0.912	T	0.001	T	0.153	-2.839	0	-2.83	-4.059	-2.987	0.680	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	464.49	37	chr19	54804880	.	G	T	464.49	.	AC=5;AF=0.119;AN=42;BaseQRankSum=2.66;DP=2756;ExcessHet=1.1607;FS=5.535;InbreedingCoeff=-0.1357;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.298e+01;QD=0.50;ReadPosRankSum=2.90;SOR=1.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,8:114:17:0|1:54804865_G_T:17,0,4427:54804865	16	0	5	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T	.	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.005	B	0.568	U	1.000	N	0.865	L	2.81	T	-0.967	T	0.015	T	0.067	-0.363	2.287	-2.83	-1.188	-0.877	0.111	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	446.36	37	chr19	54804889	.	A	C	446.36	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.433;DP=2783;ExcessHet=1.1607;FS=5.552;InbreedingCoeff=-0.1320;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.310e+01;QD=0.47;ReadPosRankSum=3.56;SOR=1.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,8:114:17:0|1:54804865_G_T:17,0,4427:54804865	16	0	5	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R	.	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.879	P	0.624	P	0.370	N	1.000	N	0.82	L	2.61	T	-1.047	T	0.034	T	0.121	-1.268	0.045	-2.83	-2.561	-4.420	4.699	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	783.55	37	chr19	54804898	.	C	G	783.55	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.74;DP=2825;ExcessHet=1.7912;FS=7.378;InbreedingCoeff=-0.1525;MLEAC=5;MLEAF=0.119;MQ=58.83;MQRankSum=-1.325e+01;QD=0.63;ReadPosRankSum=3.30;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,10:113:99:0|1:54804898_C_G:110,0,4295:54804898	15	0	6	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E	.	.	408	993	118	3	0	124	0.0587678	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.812	N	1.000	N	-2.29	N	6.0	T	-0.932	T	0.001	T	0.074	-2.172	0.005	-1.41	-0.207	0.049	3.979	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1459.03	37	chr19	54804909	.	A	G	1459.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.63;DP=2839;ExcessHet=1.7912;FS=11.097;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.65;MQRankSum=-1.377e+01;QD=1.16;ReadPosRankSum=1.42;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,10:108:99:0|1:54804898_C_G:125,0,4005:54804898	15	0	6	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K	.	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.590	N	1.000	N	1.44	L	2.74	T	-0.969	T	0.025	T	0.171	-0.507	1.679	-2.83	-0.790	-3.738	0.540	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	2793.02	37	chr19	54804943	.	G	A	2793.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.64;DP=2966;ExcessHet=1.7912;FS=4.369;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=58.46;MQRankSum=-1.419e+01;QD=2.03;ReadPosRankSum=-1.957e+00;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,13:127:26:.:.:26,0,2802	15	0	6	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K	.	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.011	B	.	.	1.000	N	0.255	N	5.79	T	-0.943	T	0.002	T	0.052	-1.471	0.018	-2.83	-0.914	-2.611	4.378	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3332.55	37	chr19	54804956	.	C	G	3332.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.553;DP=3253;ExcessHet=2.5830;FS=4.420;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.57;MQRankSum=-1.550e+01;QD=1.97;ReadPosRankSum=-2.461e+00;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,16:142:99:0|1:54804956_C_G:293,0,5243:54804956	14	0	7	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I	.	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.749	P	.	.	1.000	N	2.795	M	5.26	T	-1.036	T	0.009	T	0.293	1.165	9.742	-2.83	-1.100	0.423	0.084	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3498.55	37	chr19	54804960	.	T	A	3498.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.890e-01;DP=3264;ExcessHet=2.5830;FS=5.763;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.64;MQRankSum=-1.493e+01;QD=2.04;ReadPosRankSum=-2.172e+00;SOR=1.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,18:150:99:0|1:54804956_C_G:358,0,5488:54804956	14	0	7	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M	.	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.687	P	0.812	P	.	.	1.000	N	-0.13	N	5.18	T	-0.933	T	0.004	T	0.218	-0.371	2.254	-2.83	-2.207	-1.190	4.771	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3900.55	37	chr19	54804968	.	T	G	3900.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.04;DP=3302;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.402e+01;QD=2.23;ReadPosRankSum=-2.200e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,13:151:99:0|1:54804968_T_G:130,0,5715:54804968	14	0	7	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G	.	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.004	B	.	.	1.000	N	-1.605	N	2.6	T	-0.984	T	0.007	T	0.077	-2.734	0	-2.83	-1.548	-0.075	7.112	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3886.55	37	chr19	54804969	.	A	G	3886.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.400e-01;DP=3301;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.405e+01;QD=2.23;ReadPosRankSum=-2.321e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,13:151:99:0|1:54804968_T_G:130,0,5715:54804968	14	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,20:150:99:0|1:54805010_A_G:448,0,5398:54805010	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,20:151:99:0|1:54805010_A_G:445,0,5440:54805010	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,21:156:99:0|1:54805010_A_G:475,0,5537:54805010	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,22:151:99:0|1:54805010_A_G:515,0,5278:54805010	9	0	12	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,17:117:99:.:.:198,0,2525	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,5:44:93:0|1:54805940_TCTC_T:93,0,1623:54805940	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,6:48:99:0|1:54805940_TCTC_T:126,0,1746:54805940	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,6:54:99:0|1:54805940_TCTC_T:107,0,1997:54805940	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,10:64:99:0|1:54805940_TCTC_T:237,0,2193:54805940	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,18:91:99:0|1:54806034_C_A:536,0,3011:54806034	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,18:91:99:0|1:54806034_C_A:536,0,3011:54806034	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,17:107:99:0|1:54806034_C_A:443,0,3728:54806034	7	0	12	2
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3	.	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,18:117:99:0|1:54806034_C_A:458,0,4103:54806034	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,18:117:99:0|1:54806034_C_A:458,0,4103:54806034	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,19:124:99:0|1:54806034_C_A:482,0,4352:54806034	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,17:125:99:0|1:54806034_C_A:389,0,4484:54806034	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,16:124:99:0|1:54806034_C_A:347,0,4487:54806034	12	0	9	0
chr19	54814076	54814076	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon7:c.C994T:p.L332F,	.	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.981	D	0.628	P	.	.	1.000	N	.	.	7.0	T	-0.777	T	0.002	T	0.111	0.693	7.700	0.569	0.567	-0.103	.	0.046	.	.	0.00339457	0.0280	0.01	0.0556	0	0.1667	0.0216	0.1	0.0412	0.0022186	343	154602	rs200678651	0.0042	0.0043	0.0040	0.0045	0.0103	0.0042	0.0041	0.0098	0.0095	0.0009	0.0015	0.0006	2.519e-05	0.0031	0.0042	0.0044	0.0029	0.0103	0.0030	0.0030	0.0031	0.0029	0.0117	0.0027	0.0026	0.0092	0.0083	0.0008	0	0.0016	0.0003	0	0.0015	0.0034	0.0046	0.0033	0.0117	0.191	0.21550	T	0.012	0.64786	D	0.834	0.53183	P	0.387	0.51677	B	.	.	.	.	1	0.08975	N	.	.	.	6.83	0.00502	T	-0.92	0.24676	N	0.095	0.13484	-0.7769	0.56476	T	0.002	0.00707	T	7	0.0030997992	0.00051	T	.	.	.	0.046	0.12618	.	.	0.117191471859	0.11215	0.021027281713749055	0.02055	1.64295023885	0.89391	.	.	.	.	.	.	-0.67447	0.00052	T	-0.746844	0.03610	T	0.00640861376865033	0.00071	T	.	.	.	.	.	.	.	.	.	.	.	-5.727	0.44835	T	.	.	0.118	0.28435	B	.;.;.;.;.	.;.;.;.;.	0.635634	0.10040	6.792	0.97263748312159359	0.33102	0.00793	0.03241	N	AEFDGBI	0.049342	0.08514	N	-0.663953925870753	0.17055	0.8743658	-0.918912342796998	0.11648	0.5947029	8.9522590131838E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.074000	0.11410	.	.	0.284000	0.18682	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	982	0.03397	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1269.98	61	chr19	54814076	.	C	T	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=1208;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.250;SOR=0.613	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1284,0,1033	20	0	1	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,7,0:15:99:.:.:141,0,258,165,279,444	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,6:21:99:0|1:54855608_TCTC_T:207,0,612:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,6:21:99:0|1:54855608_TCTC_T:207,0,612:54855608	6	0	15	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10	.	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3948.51	88	chr19	54855666	.	CAG	C	3948.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.013e+00;DP=3294;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.18;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-6.440e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:99:0|1:54855666_CAG_C:108,0,828:54855666	14	0	7	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5	.	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3954.51	88	chr19	54855669	.	G	GCA	3954.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.566;DP=3235;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.30;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-9.070e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:99:0|1:54855666_CAG_C:108,0,828:54855666	14	0	7	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,5:53:65:0|1:54866416_T_C:65,0,2000:54866416	7	0	14	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,70,0:70:99:.:.:3106,217,0,3106,217,3106	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,70,0:70:99:.:.:3106,217,0,3106,217,3106	0	18	2	0
chr19	57399635	57399635	G	A	exonic	ZNF548	.	nonsynonymous SNV	ZNF548:NM_152909:exon3:c.G1348A:p.E450K	.	.	413	1099	10	0	0	10	0.00452899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.469	P	0.056	B	.	.	1.000	N	-0.28	N	2.16	T	-1.016	T	0.017	T	0.201	2.286	13.60	1.22	0.533	-2.828	2.159	0.073	0.00265047817399	0.0017	0.000599042	0.0015	0.0007	0.0003	0	0.0002	0.0018	0.0011	0.0028	0.0013713	212	154602	rs199946339	0.0015	0.0015	0.0015	0.0016	0.0037	0.0015	0.0015	0.0033	0.0032	0.0003	0.0002	3.826e-05	0	0.0001	0.0028	0.0016	0.0015	0.0037	0.0009	0.0009	0.0009	0.0009	0.0025	0.0008	0.0007	0.0014	0.0011	0.0004	0	0.0007	0	0	0	0	0.0014	0.0009	0.0025	0.11	0.31532	T	0.103	0.38305	T	0.469	0.36524	P	0.056	0.26147	B	.	.	.	.	1	0.08975	N	0.2	0.09183	N	2.16	0.19166	T	-2.2	0.51968	N	0.143	0.17828	-1.0160	0.25013	T	0.017	0.06807	T	9	0.007980734	0.00181	T	0.00265	0.05406	T	0.073	0.21317	.	.	0.128392430309	0.12331	0.11648174416651406	0.11576	0.66540836955	0.59140	0.291519969702	0.09144	T	0.115586	0.43429	T	-0.600571	0.00145	T	-0.638506	0.09778	T	0.0247555813381665	0.01240	T	0.380262	0.09387	T	0.111696035	0.26394	0.14641881	0.34689	0.111696035	0.26393	0.14641881	0.34689	-5.515	0.42008	T	.	.	0.129	0.29228	B	.;.	.;.	2.321458	0.29724	18.21	0.99739446416378774	0.83409	0.03384	0.08490	N	AEFGBCI	0.061247	0.11695	N	-0.921735874098398	0.10335	0.4933596	-0.945540936247283	0.11027	0.5592307	0.173932436500725	0.17776	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.26	1.22	0.20300	-2.592000	0.00972	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2913:0.0:0.4527:0.2561	2.159	0.03587	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1155.98	34	chr19	57399635	.	G	A	1155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=901;ExcessHet=0.0000;FS=10.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.589;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,46:88:99:1|0:57399634_C_T:1170,0,1591:57399634	20	0	1	0
chr20	96130	96130	C	T	exonic	DEFB125	.	nonsynonymous SNV	DEFB125:NM_153325:exon2:c.C184T:p.H62Y,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.0	B	0.001	N	1.000	N	0	N	2.96	T	-0.986	T	0.014	T	0.047	-1.668	0.012	-5.86	-2.182	-2.347	9.641	0.012	0.000744938269994	0.0022	0.000399361	0.0016	9.61e-05	0.0006	0	0.0002	0.0024	0	0.0013	0.0014424	223	154602	rs41276376	0.0017	0.0017	0.0017	0.0018	0.0020	0.0017	0.0016	0.0019	0.0019	0.0005	0.0007	0	0	0.0003	0.0007	0.0020	0.0013	0.0015	0.0013	0.0013	0.0014	0.0012	0.0025	0.0012	0.0011	0.0022	0.0020	0.0003	0	0.0007	0	0	0.0002	0	0.0025	0	0.0012	0.676	0.04482	T	0.67	0.06305	T	0.0	0.02946	B	0.0	0.01387	B	0.000602	0.00648	N	4.085780	1	0.08975	N	-0.205	0.04094	N	2.96	0.09542	T	-0.08	0.08187	N	0.117	0.10626	-0.9856	0.33687	T	0.014	0.05705	T	10	0.006183088	0.00139	T	7.45E-4	0.00510	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.08534869898014198	0.08468	0.0833169642222	0.09392	0.378685534	0.22069	T	0.013655	0.11770	T	-0.770688	0.00013	T	-0.885983	0.00606	T	0.000453040018380826	0.00004	T	0.265773	0.04346	T	0.019688442	0.00505	0.033616867	0.02287	0.019688442	0.00505	0.033616867	0.02286	-3.5	0.16431	T	.	.	0.087	0.11317	B	.	.	-1.943285	0.00115	0.002	0.25900943372472163	0.01216	0.00176	0.01036	N	AEFGBI	0.017124	0.00429	N	-1.90008878694186	0.00343	0.01474087	-1.98833333924982	0.00324	0.0143131	0.00641900151797252	0.11212	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.93	-5.86	0.02114	-2.640000	0.00937	-5.631000	0.01650	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5671:0.2921:0.1407	9.641	0.39004	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1301.98	35	chr20	96130	.	C	T	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.24;ReadPosRankSum=0.242;SOR=0.715	GT:AD:DP:GQ:PL	0/1:96,62:158:99:1316,0,2170	20	0	1	0
chr20	3779298	3779298	G	C	exonic	SPEF1	.	nonsynonymous SNV	SPEF1:NM_015417:exon3:c.C276G:p.I92M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.995	D	0.000	D	0.504	N	1.91	M	1.72	T	-0.865	T	0.097	T	0.693	1.747	11.80	-8.19	-1.612	-2.872	11.430	0.311	0.0348056656978	.	.	1.596e-05	0	0	0	0	2.832e-05	0	0	6.5e-06	1	154602	rs760651917	9.671e-06	9.577e-06	1.371e-05	5.571e-06	1.268e-05	5.61e-06	4.39e-06	7.36e-06	5.75e-06	0	0	0	0	0	0	1.268e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.504035	0.31702	N	2.215	0.62545	M	1.72	0.26588	T	-1.86	0.43524	N	0.653	0.66358	-0.8652	0.50886	T	0.097	0.36367	T	10	0.79265016	0.78795	D	0.034806	0.55924	D	0.311	0.63269	0.728	0.86198	0.0482279557977	0.04254	0.5870838217804499	0.58638	1.35797883796	0.84233	0.543589711189	0.44953	T	0.062582	0.31953	T	-0.110817	0.34635	T	-0.320718	0.42495	T	0.277179470861209	0.24052	T	0.766023	0.39401	T	0.41953024	0.62060	0.5774966	0.75518	0.41953024	0.62061	0.5774966	0.75519	-9.766	0.72498	D	.	.	0.247	0.48124	B	.	.	0.020388	0.04423	1.158	0.98167119715769346	0.38822	0.02061	0.06149	N	AEFDBI	0.061348	0.11722	N	-0.918430028913297	0.10411	0.4973875	-1.23107822692097	0.05417	0.2580686	0.999999929634572	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	4.73	-8.19	0.00922	-2.198000	0.01324	-1.862000	0.04593	-1.750000	0.00690	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.7467:0.0:0.1518:0.1015	11.430	0.49278	782	0.47442	CH-like domain in sperm protein|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1758.98	33	chr20	3779298	.	G	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=832;ExcessHet=0.0000;FS=0.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=-8.930e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/1:50,72:122:99:1773,0,947	20	0	1	0
chr20	23369653	23369653	G	A	exonic	GZF1	.	nonsynonymous SNV	GZF1:NM_001317019:exon4:c.G1697A:p.R566H	.	.	434	1080	8	0	0	8	0.00369004	.	.	1395908	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.001	B	0.002	B	0.007	N	0.814	D	0.79	N	3.17	T	-1.041	T	0.038	T	0.148	1.178	9.792	3.74	0.545	6.157	8.000	0.094	0.00607654343027	0.0010	0.000998403	0.0005	9.69e-05	0.0003	0	0	0.0008	0	0.0004	0.0005563	86	154602	rs144872945	0.0006	0.0006	0.0005	0.0006	0.0076	0.0005	0.0005	0.0058	0.0052	0.0004	0.0007	0	2.52e-05	3.746e-05	0.0076	0.0006	0.0008	0.0005	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	4.849e-05	0	0.0007	0	0	0.0002	0.0068	0.0010	0.0019	0	0.999	0.01930	T	0.704	0.05642	T	0.001	0.07471	B	0.002	0.06944	B	0.006644	0.31890	N	0.205916	0.814363	0.34685	D	0.74	0.18910	N	1.19	0.37578	T	-0.15	0.09297	N	0.227	0.27197	-1.0413	0.16921	T	0.038	0.16333	T	10	0.013266832	0.00282	T	0.006077	0.15905	T	0.094	0.27141	.	.	0.338834610459	0.33488	0.23062798974322338	0.22977	0.680023828954	0.59963	0.402942657471	0.25478	T	0.022028	0.17054	T	-0.490768	0.00643	T	-0.536922	0.18600	T	0.029702912799275	0.01944	T	0.890911	0.62511	D	0.041094102	0.05987	0.03606457	0.02980	0.041094102	0.05987	0.03606457	0.02980	-0.997	0.00996	T	.	.	0.137	0.30997	B	.;.	.;.	2.625359	0.34124	19.54	0.87274921739882894	0.17111	0.57849	0.30485	D	AEFDBHCI	0.063681	0.12322	N	-0.224533908504667	0.32128	1.808704	-0.028261482945439	0.38443	2.265046	0.999999923655725	0.74766	0.562547	0.31514	0	0.577304	0.33150	0	0.465395	0.07113	1	0.635551	0.53088	0	.	.	5.95	3.74	0.42108	6.081000	0.70951	6.166000	0.54416	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.8298:0.0:0.1702:0.0	8.000	0.29449	614	0.66605	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1517.98	44	chr20	23369653	.	G	A	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.290e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1532,0,1532	20	0	1	0
chr20	33291016	33291016	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon5:c.G425A:p.R142H,	.	.	421	1099	1	1	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.005	B	0.569	N	1.000	N	0.485	N	3.38	T	-0.927	T	0.011	T	0.388	1.229	9.985	-5.93	-1.020	-0.482	8.505	0.063	0.00736572939817	.	0.000599042	0.0002	0	0.0003	0	0	0.0002	0.0034	0.0002	0.000194	30	154602	rs61737874	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0002	0.0003	3.826e-05	2.519e-05	0	0.0026	0.0002	0.0005	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0	0	0.0034	0.0002	0.0005	0.0006	0.342	0.18889	T	0.478	0.11968	T	0.004	0.12183	B	0.005	0.11217	B	0.568857	0.05468	N	1.270200	1	0.08975	N	0.74	0.18910	N	3.38	0.05778	T	-0.76	0.27259	N	0.099	0.08088	-0.9267	0.44616	T	0.011	0.04181	T	10	0.01861149	0.00406	T	0.007366	0.19550	T	0.063	0.18251	0.494	0.58206	0.0138822411134	0.00435	0.19700788196174335	0.19617	0.209817070795	0.23452	0.212290734053	0.00912	T	0.003896	0.03302	T	-0.483775	0.00703	T	-0.600621	0.12759	T	0.0127294893884048	0.00215	T	0.466053	0.13673	T	0.02291079	0.00988	0.027614659	0.00927	0.02291079	0.00988	0.027614659	0.00927	-4.998	0.36819	T	.	.	0.068	0.09917	B	.;.	.;.	0.040624	0.04569	1.252	0.90362818841768	0.19626	0.00894	0.03512	N	AEFDGBI	0.040279	0.05968	N	-1.76267070329961	0.00643	0.02773723	-1.80692663087135	0.00737	0.03286027	0.639634266966967	0.22041	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.37	-5.93	0.02067	-0.513000	0.06389	-0.140000	0.11527	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6217:0.1123:0.2661:0.0	8.505	0.32342	59	0.97452	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1116.98	35	chr20	33291016	.	G	A	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=798;ExcessHet=0.0000;FS=2.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=0.467;SOR=0.474	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1131,0,1410	20	0	1	0
chr20	33297534	33297534	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon7:c.G607A:p.V203M,	.	.	419	1101	1	1	0	3	0.00136054	.	.	2335686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.995	D	0.001	N	0.998	N	2.175	M	3.27	T	-1.092	T	0.048	T	0.358	3.277	17.00	1.89	0.330	0.468	4.893	0.123	0.00839936862669	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0033	6.056e-05	0.0001682	26	154602	rs45473499	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0001	0.0003	3.826e-05	0	0	0.0028	0.0002	0.0005	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0.0004	0	0.0034	0.0002	0.0005	0	0.032	0.44694	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000740	0.42129	N	0.105378	0.997803	0.22499	N	2.57	0.75187	M	3.27	0.06602	T	-1.03	0.27052	N	0.303	0.34228	-1.0923	0.05159	T	0.048	0.20553	T	10	0.129749	0.24689	T	0.008399	0.22231	T	0.123	0.34020	.	.	0.246215685461	0.24236	0.19985060906393515	0.19902	0.411433108143	0.41895	0.430411934853	0.29265	T	0.057135	0.30481	T	-0.404768	0.02154	T	-0.497232	0.22634	T	0.101768522818546	0.12551	T	0.70483	0.31518	T	0.038501438	0.05140	0.06926973	0.14574	0.038501438	0.05140	0.06926973	0.14574	-4.238	0.27298	T	.	.	0.154	0.33981	B	.	.	3.246139	0.44328	21.9	0.9979344804690754	0.87928	0.13129	0.17679	N	AEFBI	0.068951	0.13625	N	-0.0407135230320952	0.40019	2.369496	-0.236006413773942	0.30257	1.702009	0.194515039969476	0.18042	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.92	1.89	0.24700	0.484000	0.22017	2.833000	0.35033	0.676000	0.76740	0.293000	0.25261	0.999000	0.35428	0.057000	0.15750	0.1832:0.0:0.6471:0.1697	4.893	0.13093	54	0.97570	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1070.98	34	chr20	33297534	.	G	A	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.089;DP=803;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=-3.500e-02;SOR=0.770	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1085,0,1084	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:56,28:84:99:124,0,798	2	0	19	0
chr20	35652830	35652830	-	GGGCCG	exonic	RBM12	.	nonframeshift insertion	RBM12:NM_001198840:exon2:c.2492_2493insCGGCCC:p.P837_I838insGP	.	.	317	1072	122	8	3	141	0.0604733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4619.11	33	chr20	35652818	.	AGGGCCGGGGCCG	AGGGCCGGGGCCGGGGCCG,A	4619.11	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=1.02;DP=856;ExcessHet=0.0082;FS=5.219;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.83;ReadPosRankSum=2.37;SOR=0.690	GT:AD:DP:GQ:PL	0/1:27,43,0:70:99:1683,0,936,1765,1065,2830	18	0	2	0
chr20	35652819	35652830	GGGCCGGGGCCG	-	exonic	RBM12	.	nonframeshift deletion	RBM12:NM_001198840:exon2:c.2493_2504del:p.G834_P837del	.	.	317	1072	122	8	3	141	0.0604733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	.	0.0003	0	0	0.0001	0	0.0002	0.0012	0.0009	0.0002005	31	154602	rs746941434	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	0.0003	0.0005	7.991e-05	0.0002	0	0.0014	0.0003	0.0003	0.0007	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	0.0001	0	0.0009	0	0.0004	0	0	0.0003	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4619.11	33	chr20	35652818	.	AGGGCCGGGGCCG	AGGGCCGGGGCCGGGGCCG,A	4619.11	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=1.02;DP=856;ExcessHet=0.0082;FS=5.219;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.83;ReadPosRankSum=2.37;SOR=0.690	GT:AD:DP:GQ:PL	0/1:27,43,0:70:99:1683,0,936,1765,1065,2830	18	0	2	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.888	P	0.765	P	0.000	D	0.974	D	3.09	M	-3.12	D	0.840	D	0.839	D	0.305	3.628	18.46	3.32	1.470	0.392	9.678	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	354.31	33	chr20	37007453	.	C	G	354.31	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.577e+00;DP=1113;ExcessHet=0.6776;FS=128.460;InbreedingCoeff=-0.1019;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.82;ReadPosRankSum=1.10;SOR=9.383	GT:AD:DP:GQ:PL	0/1:88,21:109:23:23,0,1793	17	0	4	0
chr20	45110447	45110447	C	T	exonic	WFDC5	.	nonsynonymous SNV	WFDC5:NM_145652:exon3:c.G320A:p.R107Q,	.	.	420	1101	1	0	0	1	0.000453926	.	.	2673085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.936	D	0.118	N	1.000	N	2.865	M	-0.66	T	-0.459	T	0.495	T	0.574	3.830	19.45	3.15	1.145	1.217	6.654	0.407	0.0426597207867	.	.	7.058e-05	0	0.0007	0	0	1.792e-05	0	0	7.12e-05	11	154602	rs775000557	2.533e-05	2.531e-05	2.315e-05	2.752e-05	0.0004	1.869e-05	1.631e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0002	1.439e-05	0	3.486e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.013	0.63109	D	0.998	0.73220	D	0.936	0.67150	D	0.118090	0.19128	N	0.383855	1	0.08975	N	2.91	0.84121	M	-0.66	0.72348	T	-2.0	0.46146	N	0.404	0.58629	-0.4588	0.70108	T	0.495	0.80854	T	10	0.20354077	0.36513	T	0.04266	0.60577	D	0.407	0.71946	0.607	0.73945	0.324436698001	0.32047	0.7790390423424332	0.77854	0.702345081028	0.61207	0.31824105978	0.13154	T	0.230834	0.59700	T	-0.190746	0.22149	T	-0.201251	0.54527	T	0.478926926851273	0.31858	T	0.751525	0.37371	T	0.23765095	0.46632	0.22799894	0.47827	0.23765095	0.46631	0.22799894	0.47826	-9.1	0.68337	D	.	.	0.461	0.62733	A	.;.	.;.	3.307256	0.45428	22.1	0.99857143181533381	0.93548	0.03144	0.08103	N	AEFDBI	0.060701	0.11554	N	0.0308695671510588	0.43264	2.623	-0.206753029767392	0.31292	1.769614	0.00359146817697056	0.10193	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.08	3.15	0.35301	1.404000	0.34232	3.183000	0.36666	0.549000	0.26987	0.018000	0.19461	0.991000	0.31484	0.166000	0.20848	0.0:0.7913:0.0:0.2087	6.654	0.22165	829	0.39537	WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	657.98	36	chr20	45110447	.	C	T	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=768;ExcessHet=0.0000;FS=0.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-7.980e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:42,28:70:99:672,0,981	20	0	1	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.68	T	0.381	D	0.611	D	0.933	4.885	28.0	5.25	2.455	7.813	18.871	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	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	465.47	36	chr20	51516833	.	C	G,T	465.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=-2.239e+00;DP=1071;ExcessHet=0.3300;FS=333.363;InbreedingCoeff=-0.0909;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=2.02;ReadPosRankSum=0.064;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:54,0,20:74:99:0|1:51516833_C_T:141,302,1903,0,1601,1544:51516833	17	0	1	1
chr20	51516833	51516833	C	T	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223A:p.G408D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.7	T	0.381	D	0.611	D	0.957	5.041	29.8	5.25	2.455	7.813	18.871	0.893	0.262073555344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	2.056e-06	0	1.383e-06	9.057e-07	0	0	.	.	0	0	0	0	0	0	9.057e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	-0.7	0.72785	T	-6.5	0.91609	D	0.94	0.95608	0.381	0.88810	D	0.611	0.86246	D	10	0.9135088	0.90714	D	0.262074	0.89547	D	0.893	0.96947	0.711	0.84691	0.919610210409	0.91879	0.8600597117562743	0.85969	1.36751619527	0.84468	0.868866324425	0.92406	D	0.671936	0.90273	D	0.38892	0.89260	D	0.32088	0.89126	D	0.997196435928345	0.90986	D	0.999049	0.99552	D	0.9028719	0.91642	0.8530377	0.91708	0.9028719	0.91643	0.8530377	0.91709	-13.698	0.92426	D	.	.	1.000	0.99795	P	.;.;.;.;.;.	.;.;.;.;.;.	5.517230	0.91744	32	0.99867588980001254	0.94547	0.98253	0.80960	D	AEFDBHI	0.905011	0.85599	D	0.910254360952043	0.92253	11.31834	0.843558426454481	0.92633	11.54079	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	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	465.47	36	chr20	51516833	.	C	G,T	465.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=-2.239e+00;DP=1071;ExcessHet=0.3300;FS=333.363;InbreedingCoeff=-0.0909;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=2.02;ReadPosRankSum=0.064;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:54,0,20:74:99:0|1:51516833_C_T:141,302,1903,0,1601,1544:51516833	17	0	1	1
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.72	T	0.381	D	0.611	D	0.955	5.001	29.4	5.25	2.455	7.813	18.871	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	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3182	1110.73	33	chr20	51516834	.	C	G	1110.73	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.139e+00;DP=1283;ExcessHet=2.5830;FS=294.373;InbreedingCoeff=-0.4045;MLEAC=10;MLEAF=0.455;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=-4.600e-02;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,20:74:99:0|1:51516833_C_T:141,0,1544:51516833	4	0	7	10
chr20	53581599	53581599	T	C	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon2:c.A1228G:p.M410V	.	.	432	1009	76	5	0	86	0.0408745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.004	B	0.593	N	1.000	N	1.1	L	3.16	T	-0.953	T	0.013	T	0.063	-0.881	0.479	-0.223	-0.156	-0.286	4.776	0.014	.	0.0040	0.0131789	0.0112	0.0007	0.0050	0.0001	0.0044	0.0068	0.0166	0.0479	0.0100969	1561	154602	rs6068589	0.0080	0.0080	0.0066	0.0095	0.0474	0.0079	0.0078	0.0462	0.0457	0.0008	0.0044	0.0037	0.0001	0.0034	0.0350	0.0058	0.0079	0.0474	0.0056	0.0057	0.0051	0.0062	0.0436	0.0053	0.0052	0.0387	0.0369	0.0009	0	0.0040	0.0035	0.0002	0.0032	0.0238	0.0071	0.0066	0.0436	1.0	0.00964	T	0.373	0.16328	T	0.005	0.12996	B	0.004	0.10090	B	0.593015	0.05603	N	1.230860	1	0.08975	N	0.365	0.12025	N	3.16	0.07711	T	-0.44	0.14588	N	0.009	0.00252	-0.9525	0.40538	T	0.013	0.05225	T	10	0.0018404424	0.00025	T	.	.	.	0.014	0.01968	.	.	.	.	0.10227051858658619	0.10157	0.22842857525	0.25396	0.300081849098	0.10412	T	0.067626	0.33250	T	-0.707244	0.00033	T	-0.753646	0.03346	T	0.00367050087191358	0.00039	T	0.476852	0.14330	T	0.109267846	0.25833	0.07645901	0.16935	0.109267846	0.25833	0.07645901	0.16935	-2.293	0.04517	T	.	.	0.061	0.01092	B	.;.	.;.	-0.380819	0.02285	0.239	0.41343242720419293	0.02976	0.20278	0.20981	N	AEFDBHCI	0.079442	0.16045	N	-0.912887780753247	0.10540	0.5041327	-0.941171445694149	0.11128	0.5650487	0.999992307601255	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.97	-0.223	0.12472	-0.173000	0.09844	-0.621000	0.08173	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.324000	0.25064	0.2377:0.1261:0.0:0.6362	4.776	0.12551	991	0.01385	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2385.11	111	chr20	53581599	.	T	C	2385.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.65;DP=880;ExcessHet=0.1072;FS=1.045;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.514;SOR=0.592	GT:AD:DP:GQ:PL	0/1:47,63:110:99:1308,0,1029	19	0	2	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F	.	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.868	P	0.32	B	0.277	N	1.000	N	0.69	N	3.3	T	-0.961	T	0.007	T	0.246	2.781	15.26	0.45	0.337	-0.133	2.756	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3184.11	34	chr20	54028628	.	C	A	3184.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.49;DP=952;ExcessHet=0.1072;FS=3.625;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=2.17;SOR=0.486	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1146,0,1171	19	0	2	0
chr20	54173363	54173363	T	A	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon1:c.A217T:p.I73F	Hypercalcemia, infantile, 1, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	351207	Hypercalcemia,_infantile,_1|not_provided	MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.88	T	0.993	D	0.921	D	0.000	D	1.000	D	0.46	N	5.13	T	-0.821	T	0.195	T	0.395	2.958	15.86	5.2	1.965	2.778	9.289	0.170	0.135669599571	7.8e-05	0.000599042	0.0004	0	0.0005	0	0	0.0002	0	0.0017	0.0002264	35	154602	rs201820243	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	0.0001	0.0021	0	0	0.0009	4.246e-05	0.0003	0.0013	0.0001	0.0001	8.992e-05	0.0001	0.0010	6.505e-05	5.317e-05	0.0004	0.0003	0	0	0.0001	0.0020	0	0	0	2.94e-05	0	0.0010	0.01	0.57480	D	0.005	0.72224	D	0.981	0.59675	D	0.842	0.60272	P	0.000033	0.55875	D	0.159697	0.979647	0.39583	D	-0.15	0.04376	N	0.04	0.62051	T	-0.32	0.12283	N	0.388	0.54059	-0.8214	0.53846	T	0.195	0.54942	T	10	0.027476847	0.00893	T	0.13567	0.81814	D	0.170	0.43303	.	.	0.616060826097	0.61296	0.6982932014633763	0.69770	0.446433868677	0.44513	0.650215744972	0.60017	T	0.169368	0.51672	T	-0.351806	0.04615	T	-0.302749	0.44433	T	0.0597555280976334	0.07129	T	0.908309	0.67561	D	0.2567585	0.48717	0.30730325	0.56752	0.2567585	0.48716	0.30730325	0.56751	1.931	0.00055	T	.	.	0.183	0.49324	B	.;.	.;.	4.270034	0.64956	24.8	0.98776773852281829	0.46065	0.81455	0.40855	D	AEFGBHCI	0.443075	0.50054	N	0.083730579189033	0.45705	2.822557	0.114395289323049	0.45285	2.794323	0.999999983995933	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.2	5.2	0.71720	3.266000	0.51272	2.372000	0.32435	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.793000	0.37436	0.0:0.0856:0.0:0.9144	9.289	0.36936	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	865.98	33	chr20	54173363	.	T	A	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=1.35;SOR=0.725	GT:AD:DP:GQ:PL	0/1:43,39:82:99:880,0,999	20	0	1	0
chr20	59892042	59892042	T	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon24:c.A2312C:p.E771A,	.	.	459	1049	11	3	0	17	0.00803783	.	.	2476868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.006	B	0.004	B	0.707	N	1.000	N	0.345	N	2.48	T	-0.947	T	0.013	T	0.143	-1.232	0.058	-0.432	0.059	-0.725	3.956	0.004	0.0041464142265	0.0018	0.00359425	0.0028	0.0003	0.0020	0	0	0.0026	0.0033	0.0088	0.0026778	414	154602	rs117549957	0.0026	0.0026	0.0024	0.0029	0.0094	0.0026	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	5.639e-05	0.0094	0.0023	0.0033	0.0086	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0030	0.0072	0	9.418e-05	0.0272	0.0028	0.0052	0.0052	0.725	0.04443	T	0.737	0.05036	T	0.006	0.13644	B	0.004	0.10090	B	0.707332	0.10043	N	0.876643	1	0.08975	N	0.69	0.16971	N	2.48	0.18248	T	-0.15	0.10833	N	0.069	0.06720	-0.9474	0.41414	T	0.013	0.05273	T	10	0.0046943426	0.00099	T	0.004146	0.09931	T	0.004	0.00165	.	.	0.043077524339	0.03247	0.15897107292305326	0.15818	0.0303572808084	0.03137	0.230584919453	0.02011	T	0.080479	0.36372	T	-0.653147	0.00069	T	-0.704721	0.05572	T	0.00172586463314303	0.00018	T	0.643236	0.25495	T	0.03463505	0.03925	0.031656172	0.01785	0.03463505	0.03924	0.031656172	0.01784	-4.121	0.25599	T	.	.	0.096	0.19438	B	.;.;.	.;.;.	0.149478	0.05419	1.894	0.32628396023178846	0.01901	0.03423	0.08551	N	AEFI	0.066263	0.12968	N	-1.26149894413797	0.04149	0.1867449	-1.2456061327886	0.05196	0.2470095	5.05074692332387E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	-0.432	0.11678	-0.564000	0.06027	0.080000	0.14378	-1.309000	0.01237	0.000000	0.06391	0.000000	0.08366	0.589000	0.31115	0.2797:0.4687:0.0:0.2516	3.956	0.08887	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	0.02381	1041.98	39	chr20	59892042	.	T	G	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.231;DP=811;ExcessHet=0.0000;FS=1.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=-7.230e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1056,0,1456	20	0	1	0
chr20	59939439	59939439	C	T	exonic	PPP1R3D	.	nonsynonymous SNV	PPP1R3D:NM_006242:exon1:c.G493A:p.A165T,	.	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.001	B	0.901	N	0.735	N	0.345	N	0.51	T	-1.040	T	0.047	T	0.058	2.133	13.09	-0.983	0.148	0.124	1.585	0.029	0.0313602730276	0.0017	0.00359425	0.0029	0.0001	0.0020	0	0	0.0026	0.0025	0.0084	0.002445	378	154602	rs149736385	0.0026	0.0026	0.0024	0.0029	0.0092	0.0025	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	7.766e-05	0.0092	0.0023	0.0032	0.0085	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0032	0.0072	0	9.411e-05	0.0272	0.0028	0.0057	0.0052	0.538	0.06847	T	0.565	0.08961	T	0.001	0.07471	B	0.001	0.04355	B	0.901394	0.07358	N	1.056550	0.735285	0.29789	N	1.175	0.29870	L	0.51	0.55439	T	-0.57	0.17210	N	0.063	0.03502	-1.0397	0.17404	T	0.047	0.19998	T	10	0.0023865998	0.00035	T	0.03136	0.53460	D	0.029	0.06676	.	.	0.48505662038	0.48136	0.18719301782112324	0.18637	0.783494048791	0.65400	0.42191067338	0.28099	T	0.011707	0.10405	T	-0.616636	0.00115	T	-0.652417	0.08785	T	0.00182093008429166	0.00019	T	0.474753	0.14169	T	0.050027553	0.08975	0.06288651	0.12375	0.050027553	0.08974	0.06288651	0.12375	-5.27	0.39645	T	.	.	0.079	0.07412	B	.	.	1.819671	0.23120	15.89	0.98549616485174141	0.42833	0.23289	0.22028	N	AEFDGBHCI	0.101186	0.20330	N	-1.00173789304803	0.08567	0.4022025	-0.948997271987702	0.10946	0.5546428	0.999999997774422	0.74766	0.455138	0.09556	0	0.405561	0.06353	1	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.16	-0.983	0.09738	0.156000	0.16200	1.588000	0.27514	0.597000	0.34315	0.029000	0.20367	0.999000	0.35428	0.979000	0.57723	0.3147:0.3622:0.0946:0.2285	1.585	0.02484	993	0.01300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1223.98	37	chr20	59939439	.	C	T	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.895e+00;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=0.730;SOR=0.616	GT:AD:DP:GQ:PL	0/1:32,51:83:99:1238,0,749	20	0	1	0
chr20	62812406	62812406	G	A	exonic	OGFR	.	nonsynonymous SNV	OGFR:NM_007346:exon7:c.G791A:p.R264Q,	.	.	.	.	.	.	.	.	.	.	.	2440268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.922	D	0.012	N	0.984	N	2.075	M	1.77	T	-0.932	T	0.194	T	0.403	3.092	16.33	0.763	0.283	1.440	4.769	0.155	0.027955204407	.	.	6.738e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs754513274	9.432e-05	9.782e-05	9.144e-05	9.726e-05	0.0002	8.128e-05	7.59e-05	0.0001	9.539e-05	0	2.461e-05	0	0	2.016e-05	0.0002	0.0001	3.393e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.413e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	9.411e-05	0	1.47e-05	0	0	0.006	0.61437	D	0.039	0.55759	D	0.996	0.68779	D	0.878	0.62312	P	0.012235	0.29245	N	0.340626	0.984149	0.24825	N	2.485	0.72352	M	1.77	0.34452	T	-2.8	0.62343	D	0.219	0.24510	-0.9316	0.43903	T	0.194	0.54811	T	10	0.17312375	0.32122	T	0.027955	0.50703	D	0.155	0.40530	.	.	0.347879110917	0.34393	0.27292444139106947	0.27205	1.01917520793	0.75045	0.606942772865	0.53885	T	0.108861	0.42226	T	-0.0983782	0.36693	T	-0.37909	0.35829	T	0.619107782840729	0.37169	D	0.929807	0.74231	D	0.099507526	0.23483	0.111094065	0.26794	0.099507526	0.23483	0.111094065	0.26794	-8.834	0.66622	D	.	.	0.146	0.39305	B	.;.;.	.;.;.	3.188946	0.43316	21.7	0.99907215215981093	0.97726	0.41478	0.26666	N	AEFBCI	0.072725	0.14524	N	0.0427611452403169	0.43811	2.666739	-0.135341383269534	0.33977	1.949374	0.83271174749085	0.24722	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.57	0.763	0.17606	1.470000	0.34963	1.550000	0.27287	0.676000	0.76740	0.776000	0.29426	0.888000	0.27792	0.135000	0.19760	0.1801:0.4211:0.3987:0.0	4.769	0.12517	894	0.26265	Opioid growth factor receptor (OGFr) conserved domain;Opioid growth factor receptor (OGFr) conserved domain;Opioid growth factor receptor (OGFr) conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1778.98	33	chr20	62812406	.	G	A	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=1147;ExcessHet=0.0000;FS=6.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=1.34;SOR=0.734	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1793,0,1359	20	0	1	0
chr20	62860234	62860234	A	G	exonic	TCFL5	.	nonsynonymous SNV	TCFL5:NM_001301726:exon2:c.T722C:p.L241S	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.077	B	0.046	B	0.064	N	0.994	N	0.55	N	0.88	T	-1.006	T	0.082	T	0.36	1.474	10.87	3.61	0.636	4.168	9.010	0.102	0.0253009711656	7.7e-05	0.000199681	4.943e-05	0	0	0	0	2.998e-05	0	0.0002	4.53e-05	7	154602	rs369138874	3.968e-05	3.967e-05	2.451e-05	5.502e-05	0.0009	3.113e-05	2.847e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	1.979e-05	3.313e-05	0.0003	5.251e-05	5.249e-05	7.708e-05	2.685e-05	0.0002	2.555e-05	1.829e-05	3.762e-05	2.575e-05	2.405e-05	0	0	0	0	0	0	8.82e-05	0	0.0002	0.002	0.78490	D	0.068	0.46632	T	0.051	0.24313	B	0.02	0.24676	B	0.064191	0.21970	N	0.327491	0.994036	0.23600	N	0.97	0.24054	L	0.88	0.47130	T	-2.72	0.57920	D	0.354	0.40665	-1.0055	0.28307	T	0.082	0.32266	T	10	0.07898772	0.12655	T	0.025301	0.48274	D	0.102	0.29158	.	.	0.134007934775	0.12933	0.4207848371436087	0.41994	0.00602193082573	0.00527	0.559920728207	0.47257	T	0.039152	0.25092	T	-0.313446	0.07448	T	-0.383472	0.35315	T	0.132416894442001	0.15603	T	0.561944	0.19701	T	0.2005575	0.42035	0.19708054	0.43472	0.2005575	0.42035	0.19708054	0.43471	-3.098	0.11273	T	.	.	0.278	0.55257	B	.;.	.;.	3.125255	0.42209	21.5	0.98791295502531618	0.46301	0.80496	0.40118	D	AEFDGBCI	0.414380	0.48367	N	-0.501025761979289	0.22047	1.174485	-0.367268444215559	0.25980	1.432112	0.999999362903447	0.74766	0.660085	0.49399	0	0.581341	0.33841	0	0.662677	0.59975	0	0.71	0.69187	0	.	.	4.71	3.61	0.40494	4.233000	0.58451	8.985000	0.78499	-0.056000	0.16711	0.964000	0.33853	1.000000	0.68203	0.200000	0.21896	0.9143:0.0:0.0857:0.0	9.010	0.35297	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1156.98	35	chr20	62860234	.	A	G	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.625e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1171,0,1431	20	0	1	0
chr20	63307504	63307504	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon6:c.C511T:p.R171C,	.	.	402	1117	3	0	0	3	0.00134108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.505	P	0.192	U	0.923	N	0.695	N	-1.13	T	-0.730	T	0.277	T	0.293	2.740	15.12	2.95	1.735	0.936	9.690	0.234	0.167628331564	0.0002	.	0.0005	0	0.0004	0.0027	0.0002	0.0004	0	6.273e-05	0.0004463	69	154602	rs200049003	0.0004	0.0004	0.0003	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	0.0001	0.0004	0.0002	0.0029	0	0.0049	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0027	0.0003	0.0002	0.0016	0.0013	0.0001	0	0.0004	0	0.0027	0	0	0.0003	0	0.0006	0.161	0.23631	T	0.003	0.79402	D	0.997	0.70673	D	0.505	0.47795	P	0.191611	0.16831	U	0.565368	0.922762	0.27253	N	0.895	0.22405	L	-1.13	0.77719	T	-2.45	0.53577	N	0.208	0.25745	-0.7298	0.58974	T	0.277	0.64865	T	10	0.028537959	0.00985	T	0.167628	0.84594	D	0.234	0.53644	.	.	0.727762340621	0.72534	0.1726882488705755	0.17188	0.0422098634338	0.04548	0.228284418583	0.01843	T	0.022403	0.17275	T	-0.398966	0.02352	T	-0.349228	0.39292	T	0.0342459721018273	0.02679	T	0.70113	0.31087	T	0.102977395	0.24337	0.08792824	0.20469	0.102977395	0.24337	0.08792824	0.20468	-8.054	0.62196	D	.	.	0.110	0.21011	B	.;.	.;.	2.711670	0.35449	19.90	0.99762681398896291	0.85172	0.36548	0.25558	N	AEFGBI	0.186875	0.31418	N	-0.292106197602064	0.29451	1.633376	-0.385475438740705	0.25429	1.398382	3.0550701273712E-4	0.06454	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.92	2.95	0.33285	0.796000	0.26646	0.039000	0.13841	0.454000	0.21428	0.080000	0.22340	0.002000	0.18203	0.240000	0.23001	0.0:0.8966:0.0:0.1034	9.690	0.39286	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1095.98	36	chr20	63307504	.	C	T	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.57;SOR=0.737	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1110,0,1083	20	0	1	0
chr21	5117173	5117173	G	A	exonic	GATD3A;GATD3B	.	nonsynonymous SNV	GATD3B:NM_001363760:exon6:c.C644T:p.T215M	.	.	595	926	0	1	0	2	0.00107875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.933e-05	3.318e-05	1.631e-05	2.207e-05	0.0001	6.66e-06	4.11e-06	1.796e-05	7.34e-06	0	0	0	6.095e-05	0	0	1.187e-05	0	0.0001	3.416e-05	5.336e-05	0	7.686e-05	5e-05	0	0	.	.	0	0	0	0	0	0	0	5e-05	0	0	.	.	.	0.07	0.54541	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.48134	.	.	.	.	.	.	.	0.39502946	0.55165	T	.	.	.	.	.	.	.	.	.	0.6173278640660086	0.61664	.	.	.	.	.	0.138465	0.47196	T	.	.	.	.	.	.	.	.	.	0.975436	0.92647	D	.	.	.	.	.	.	.	.	-8.837	0.69927	D	.	.	0.250	0.54302	B	.;.;.	.;.;.	1.890925	0.24020	16.24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.758000	0.91339	9.388000	0.80560	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	.	.	.	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	142.57	22	chr21	5117173	.	G	A	142.57	.	AC=2;AF=0.056;AN=36;DP=277;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9438;MLEAC=2;MLEAF=0.056;MQ=27.00;QD=23.76;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,6:6:18:168,18,0	17	1	0	3
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3167,327,0	6	6	9	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V,	.	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2096,230,0	6	6	9	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	1/1:0,29:29:87:755,87,0	6	6	9	0
chr21	26468542	26468542	G	A	exonic	CYYR1	.	nonsynonymous SNV	CYYR1:NM_001320768:exon4:c.C427T:p.R143C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.832	P	0.007	N	1.000	D	1.39	L	1.41	T	-1.043	T	0.115	T	0.409	2.517	14.38	4.51	2.788	3.037	13.048	0.151	0.0105816254474	.	.	1.651e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs774899929	2.809e-05	2.805e-05	3.545e-05	2.066e-05	3.334e-05	2.09e-05	1.881e-05	2.459e-05	2.147e-05	2.992e-05	0	3.83e-05	0	1.874e-05	0	3.334e-05	1.658e-05	0	1.973e-05	1.97e-05	0	4.04e-05	4.83e-05	5.25e-06	2.46e-06	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.166	0.30828	T	0.995	0.67487	D	0.832	0.59730	P	0.007207	0.31533	N	0.394694	0.993108	0.81001	D	0.895	0.22405	L	1.41	0.33412	T	-3.34	0.66325	D	0.208	0.23125	-1.0429	0.16443	T	0.115	0.40717	T	10	0.22136316	0.38859	T	0.010582	0.27281	T	0.151	0.39764	0.204	0.11936	0.301455362545	0.29754	0.37982370762353174	0.37897	0.369130401993	0.38444	0.589890003204	0.51478	T	0.034782	0.23458	T	-0.215881	0.18558	T	-0.366346	0.37316	T	0.725176155567169	0.41962	D	0.822818	0.48291	T	0.14511618	0.33279	0.15063147	0.35516	0.14511618	0.33279	0.15063147	0.35516	-4.268	0.27726	T	.	.	0.108	0.20430	B	.	.	4.232553	0.64109	24.7	0.99916781316890269	0.98449	0.69964	0.34397	D	AEFBI	0.291460	0.40258	N	0.362752003927755	0.59415	4.120848	0.303940185274479	0.55771	3.739939	0.995063003111551	0.33934	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.51	4.51	0.54589	3.545000	0.53401	6.455000	0.55682	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.289000	0.24236	0.0:0.0:1.0:0.0	13.048	0.58346	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1540.98	33	chr21	26468542	.	G	A	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.750;DP=834;ExcessHet=0.0000;FS=3.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.329;SOR=0.844	GT:AD:DP:GQ:PL	0/1:67,69:136:99:1555,0,1415	20	0	1	0
chr21	29063514	29063514	T	C	exonic	CCT8	.	nonsynonymous SNV	CCT8:NM_001282909:exon7:c.A560G:p.K187R	.	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.696	P	0.421	B	0.000	D	1.000	D	2.21	M	-0.32	T	-0.447	T	0.291	T	0.214	4.006	20.5	5.48	2.205	7.575	15.868	0.232	0.0268151337184	0.0006	0.00219649	0.0014	0.0002	0.0023	0	0.0002	0.0017	0.0044	0.0012	0.0013583	210	154602	rs139983851	0.0013	0.0013	0.0013	0.0013	0.0071	0.0012	0.0012	0.0054	0.0048	0.0002	0.0025	0.0052	0	0.0002	0.0071	0.0012	0.0017	0.0011	0.0011	0.0011	0.0010	0.0012	0.0025	0.0009	0.0009	0.0019	0.0017	0.0003	0	0.0025	0.0037	0	9.411e-05	0.0102	0.0012	0.0047	0.0010	0.226	0.19927	T	0.301	0.20422	T	0.696	0.41742	P	0.256	0.39259	B	0.000002	0.62929	D	0.134875	0.999994	0.58761	D	2.145	0.60081	M	-0.32	0.68181	T	-2.08	0.47514	N	0.286	0.33360	-0.4465	0.70515	T	0.291	0.66278	T	10	0.0084634125	0.00192	T	0.026815	0.49694	D	0.232	0.53354	.	.	0.447033504574	0.44327	0.44234095412281776	0.44151	0.190945093199	0.21410	0.567239880562	0.48288	T	0.432593	0.78031	T	-0.376657	0.03270	T	-0.320294	0.42542	T	0.0267913966580375	0.01515	T	0.979902	0.93529	D	0.60240364	0.72820	0.46811366	0.69146	0.60240364	0.72821	0.46811366	0.69147	-4.279	0.32045	T	.	.	0.095	0.17700	B	.;.;.	.;.;.	3.691859	0.52601	23.3	0.99829957502109545	0.91198	0.97779	0.77072	D	AEFBCI	0.897156	0.83903	D	0.476346966423615	0.65710	4.857076	0.538681291293889	0.70612	5.531113	0.999999999996558	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.546000	0.81086	7.838000	0.70402	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.868	0.78857	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	720.98	43	chr21	29063514	.	T	C	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.647;SOR=0.699	GT:AD:DP:GQ:PL	0/1:39,34:73:99:735,0,960	20	0	1	0
chr21	30755152	30755152	T	C	exonic	KRTAP21-1	.	nonsynonymous SNV	KRTAP21-1:NM_181619:exon1:c.A227G:p.Y76C,	.	.	427	1067	27	1	0	29	0.0134073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.008	B	0.006	B	.	.	1.000	N	.	.	.	.	-1.003	T	0.073	T	0.324	0.099	4.533	0.614	0.237	0.103	5.775	0.060	.	0.0010	0.00199681	0.0030	0.0002	0.0012	0.0001	0	0.0009	0.0055	0.0170	0.0025549	395	154602	rs148348278	0.0017	0.0017	0.0012	0.0023	0.0174	0.0017	0.0017	0.0167	0.0164	5.974e-05	0.0013	0.0014	2.519e-05	0	0.0104	0.0007	0.0019	0.0174	0.0012	0.0012	0.0008	0.0017	0.0122	0.0011	0.0010	0.0097	0.0088	0.0001	0	0.0029	0.0014	0	0	0	0.0010	0.0005	0.0122	0.0	0.91255	D	0.058	0.46182	T	0.008	0.14655	B	0.006	0.12133	B	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	-7.29	0.94457	D	0.6	0.61849	-1.0027	0.29139	T	0.073	0.29451	T	7	0.0084504485	0.00192	T	.	.	.	0.060	0.17295	.	.	0.130388298395	0.12655	0.05233386947642775	0.05175	0.0306325471804	0.03166	.	.	.	0.248699	0.61854	T	-0.413027	0.01898	T	-0.352435	0.38926	T	0.0423943778841176	0.04127	T	0.549145	0.18877	T	0.5183084	0.68162	0.5030433	0.71273	0.5183084	0.68163	0.5030433	0.71273	-2.464	0.05540	T	.	.	0.142	0.31151	B	.	.	2.593298	0.33647	19.40	0.84386920218165518	0.15262	0.02736	0.07409	N	AEFI	0.025934	0.01859	N	-0.700160313433485	0.16017	0.8124002	-0.721478876790158	0.16426	0.8689169	1.74057682139831E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	0.614	0.16778	0.098000	0.15027	-0.492000	0.08854	0.650000	0.52971	0.014000	0.18986	0.000000	0.08366	0.547000	0.30103	0.0:0.3482:0.0:0.6517	5.775	0.17542	572	0.70300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	477.98	35	chr21	30755152	.	T	C	477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.292;DP=737;ExcessHet=0.0000;FS=4.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.05;MQRankSum=1.66;QD=9.75;ReadPosRankSum=-2.689e+00;SOR=1.545	GT:AD:DP:GQ:PL	0/1:30,19:49:99:492,0,794	20	0	1	0
chr21	41992531	41992531	G	C	exonic	ZBTB21	.	nonsynonymous SNV	ZBTB21:NM_001320729:exon2:c.C1565G:p.A522G	.	.	424	1049	46	3	0	52	0.024186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.004	B	0.328	N	1.000	N	0.755	N	3.18	T	-0.954	T	0.010	T	0.024	-0.023	3.894	0.454	0.046	1.001	9.476	0.068	.	0.0071	0.00738818	0.0070	0.0105	0.0018	0.0007	0.0009	0.0055	0.0121	0.0197	0.0064876	1003	154602	rs35124464	0.0052	0.0052	0.0047	0.0057	0.0284	0.0051	0.0051	0.0249	0.0235	0.0119	0.0028	0.0144	0.0003	0.0017	0.0284	0.0039	0.0072	0.0193	0.0072	0.0072	0.0070	0.0074	0.0182	0.0069	0.0067	0.0152	0.0140	0.0121	0.0055	0.0033	0.0199	0	0.0013	0.0374	0.0052	0.0038	0.0182	0.288	0.15098	T	0.345	0.20228	T	0.002	0.09854	B	0.004	0.10090	B	0.327997	0.04113	N	1.522150	1	0.08975	N	1.1	0.28011	L	3.16	0.07711	T	-0.61	0.18042	N	0.131	0.12627	-0.9537	0.40327	T	0.010	0.03627	T	10	0.0023423433	0.00034	T	.	.	.	0.068	0.19811	.	.	0.143184338766	0.13958	0.212312114547024	0.21147	0.179118153134	0.20148	0.264483004808	0.05436	T	0.008282	0.07610	T	-0.705944	0.00034	T	-0.77188	0.02707	T	0.00308527223274043	0.00032	T	0.671533	0.30167	T	0.021541987	0.00762	0.025680333	0.00622	0.021541987	0.00761	0.025680333	0.00622	-3.342	0.14285	T	.	.	0.097	0.15698	B	.;.;.;.	.;.;.;.	1.624779	0.20752	14.89	0.93860187295792363	0.23865	0.24793	0.22503	N	AEFBCI	0.055706	0.10237	N	-0.902054983265432	0.10793	0.5175839	-0.907795550003522	0.11909	0.6096349	0.988863976278924	0.31652	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.77	0.454	0.15857	2.992000	0.49106	4.768000	0.44756	0.676000	0.76740	0.246000	0.24809	0.912000	0.28152	0.330000	0.25202	0.0645:0.5525:0.2893:0.0937	9.476	0.38037	986	0.02773	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1198.98	35	chr21	41992531	.	G	C	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e-01;DP=890;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=1.60;SOR=0.643	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1213,0,1400	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	0/2:14,0,9:23:99:293,335,748,0,412,379	5	1	7	3
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,147,0:147:99:1|1:44558616_T_G:6498,442,0,6498,442,6498:44558616	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,145,0:145:99:1|1:44558616_T_G:6432,436,0,6432,436,6432:44558616	0	17	3	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	2/2:0,0,143:143:99:6028,6134,6497,436,494,0	3	1	0	1
chr21	46411888	46411888	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.C5461T:p.R1821W	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	YES	2	1495	25	0	0	25	0.00829187	.	.	430495	not_specified|not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.463	P	0.045	B	0.873	N	1.000	N	1.65	L	4.46	T	-0.934	T	0.008	T	0.297	1.235	10.01	1.33	0.320	-0.114	6.648	0.045	.	.	0.00179712	0.0041	0.0004	0	0.0066	0	0.0006	0	0.0125	0.0014489	224	154602	rs575313866	0.0008	0.0008	0.0005	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0002	0.0007	0	0.0019	0	0.0036	0.0002	0.0011	0.0092	0.0009	0.0009	0.0005	0.0013	0.0091	0.0008	0.0007	0.0070	0.0062	0.0003	0	0.0029	0	0.0033	0	0.0034	0.0002	0	0.0091	0.058	0.37750	T	0.002	0.79402	D	0.333	0.33288	B	0.02	0.19048	B	0.872705	0.07186	N	1.109980	1	0.08975	N	0.975	0.24501	L	4.46	0.02102	T	-4.48	0.77965	D	0.287	0.32481	-0.9345	0.43470	T	0.008	0.02760	T	10	0.006488085	0.00147	T	.	.	.	0.045	0.12272	.	.	0.596622473119	0.59341	0.4047333056021422	0.40389	0.156463821572	0.17657	0.265655070543	0.05582	T	0.290084	0.66286	T	-0.554294	0.00275	T	-0.561019	0.16281	T	0.0288619835273086	0.01817	T	0.669433	0.27806	T	0.08724008	0.20307	0.093958735	0.22219	0.08724008	0.20307	0.093958735	0.22219	-7.649	0.58652	D	.	.	0.226	0.45762	B	.	.	2.298956	0.29417	18.11	0.99402050036638068	0.62841	0.07687	0.13691	N	AEFDBI	0.118379	0.23151	N	-0.628964085889357	0.18078	0.9356798	-0.703033531436726	0.16885	0.8953257	0.941059141097762	0.27459	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.491896	0.07777	0	.	.	5.7	1.33	0.20958	0.047000	0.13941	0.340000	0.17371	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.057000	0.15750	0.5394:0.3716:0.0:0.0889	6.648	0.22140	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1440.98	36	chr21	46411888	.	C	T	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=850;ExcessHet=0.0000;FS=1.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-1.089e+00;SOR=0.806	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1455,0,1206	20	0	1	0
chr22	17189987	17189987	C	T	exonic	ADA2	.	nonsynonymous SNV	ADA2:NM_177405:exon3:c.G204A:p.M68I	Polyarteritis nodosa, childhood-onset, Autosomal recessive	.	435	1077	10	0	0	10	0.00462107	.	.	361951	Autoinflammatory_syndrome|Vasculitis_due_to_ADA2_deficiency|not_specified|ADA2-related_disorder|Behcet_disease|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553|MedGen:CN169374|.|MONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650,Orphanet:117|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.8	T	0.002	B	0.004	B	0.013	N	0.990	N	0.05	N	-3.64	D	-0.551	T	0.537	D	0.285	-0.818	0.629	2.94	0.611	1.036	8.197	0.291	0.0587339994777	0.0016	0.000599042	0.0020	0.0003	0.0011	0	0	0.0027	0.0033	0.0025	0.0019275	298	154602	rs146597836	0.0015	0.0015	0.0014	0.0016	0.0120	0.0015	0.0015	0.0097	0.0089	0.0002	0.0016	0.0052	0	5.617e-05	0.0120	0.0015	0.0022	0.0021	0.0016	0.0016	0.0017	0.0015	0.0019	0.0014	0.0014	0.0016	0.0015	0.0002	0.0559	0.0013	0.0049	0	9.409e-05	0.0102	0.0019	0.0033	0.0010	0.43	0.14352	T	0.595	0.23776	T	0.002	0.09854	B	0.004	0.10090	B	0.013417	0.28850	N	0.427671	0.992317	0.24224	N	.	.	.	-3.64	0.95145	D	-1.58	0.42191	N	0.286	0.37923	-0.5509	0.66753	T	0.537	0.82887	D	10	0.004589975	0.00096	T	0.058734	0.67421	D	0.291	0.61040	0.71	0.84601	0.709851813534	0.70731	0.5295657912961719	0.52880	0.047616438031	0.05199	0.357759594917	0.19058	T	0.023813	0.70943	T	-0.272913	0.11434	T	-0.170655	0.57384	T	0.00253400410243227	0.00026	T	0.567243	0.20478	T	0.2564481	0.48684	0.13418488	0.32159	0.23145595	0.45917	0.14693484	0.34792	-1.807	0.03593	T	0.17883202116306676	0.22940	0.367	0.61602	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.923658	0.12988	9.492	0.70132654671093253	0.09196	0.54814	0.29708	D	AEFBI	0.108180	0.21529	N	-0.886310951820813	0.11168	0.537478	-0.793964837442493	0.14643	0.7661527	0.848173156540244	0.24993	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.14	2.94	0.33188	1.067000	0.30227	0.316000	0.17134	0.599000	0.40250	0.678000	0.28421	0.048000	0.21764	0.040000	0.14268	0.165:0.5733:0.2617:0.0	8.197	0.30565	994	0.00715	Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain;.;Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain;Adenosine/AMP deaminase domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	957.98	33	chr22	17189987	.	C	T	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.658;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-1.394e+00;SOR=0.687	GT:AD:DP:GQ:PL	0/1:34,39:73:99:972,0,787	20	0	1	0
chr22	17549119	17549119	C	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.C3340A:p.P1114T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.702	P	0.000	D	0.599	D	2.075	M	1.82	T	-0.858	T	0.092	T	0.236	1.853	12.16	2.84	0.604	1.088	8.197	0.066	0.0315530176331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.017	0.60972	D	0.99	0.63424	D	0.702	0.54226	P	0.000173	0.48594	D	0.000000	0.599485	0.32526	D	2.455	0.71248	M	1.82	0.25018	T	-3.23	0.65056	D	0.411	0.53708	-0.8576	0.51434	T	0.092	0.35092	T	10	0.16733053	0.31221	T	0.031553	0.53611	D	0.066	0.19193	0.13	0.03494	0.417460480802	0.41365	0.09643574505551696	0.09575	.	.	0.307515144348	0.11532	T	0.385006	0.74649	T	-0.156018	0.27375	T	-0.461886	0.26394	T	0.980898976325989	0.73608	D	0.865113	0.56350	D	0.073402435	0.16401	0.09139984	0.21488	0.073402435	0.16400	0.09139984	0.21487	-3.648	0.18553	T	.	.	0.073	0.04723	B	.;.;.;.	.;.;.;.	2.156422	0.27469	17.47	0.99387619760090362	0.62202	0.57243	0.30326	D	AEFDBI	0.192892	0.32003	N	-0.0580602029455868	0.39243	2.311067	-0.13744173044113	0.33894	1.943799	0.169176231369232	0.17709	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.93	2.84	0.32241	1.296000	0.32994	0.106000	0.14715	-0.202000	0.08738	0.042000	0.21073	0.000000	0.08366	0.376000	0.26245	0.0:0.7527:0.0:0.2473	8.197	0.30563	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1289.98	40	chr22	17549119	.	C	A	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=902;ExcessHet=0.0000;FS=0.808;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-3.230e-01;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,35:90:99:0|1:17549118_T_A:1304,0,2184:17549118	20	0	1	0
chr22	18925164	18925164	C	T	exonic	LOC102724788;PRODH	.	stopgain	PRODH:NM_001195226:exon4:c.G230A:p.W77X	.	.	0	1384	130	8	0	146	0.050103	.	.	469889	Schizophrenia_4|Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.094	N	0.000	P	.	.	.	.	.	.	.	.	.	1.645	11.46	-6.11	-1.080	-0.210	6.835	.	.	0.0583	0.0563099	0.0400	0.1047	0.0288	0.0276	0.0293	0.0383	0.0453	0.0242	0.0379426	5866	154602	rs11913840	3.785e-05	0.0004	0	6.825e-05	7.066e-05	0	0	.	.	0	0	0	0	0	0	7.066e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094139	0.20188	N	0.520350	1.46935e-18	0.81001	P	.	.	.	.	.	.	.	.	.	0.579	0.60749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239079	0.15466	T	-0.0293432	0.68412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	3.880428	0.56390	23.7	0.88814784672952418	0.18278	0.05045	0.10832	N	AEFDBI	0.367121	0.45469	N	-0.29800949331419	0.29226	1.618826	-0.742117687753555	0.15916	0.8394609	0.999810399753712	0.43459	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	-6.11	0.01950	-0.056000	0.11744	-3.174000	0.02998	0.525000	0.24333	0.001000	0.13787	0.000000	0.08366	0.057000	0.15750	0.1017:0.1914:0.564:0.1429	6.835	0.23113	929	0.16858	.;.;.;.;.	.	.	.	.	rs11913840	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	1	0	0.04762	4302.11	34	chr22	18925164	.	C	T	4302.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.77;DP=976;ExcessHet=0.1072;FS=3.156;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=0.777;SOR=0.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,57:133:99:0|1:18925164_C_T:1275,0,1513:18925164	19	0	2	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,131:131:99:1|1:18925164_C_T:4522,393,0:18925164	3	11	7	0
chr22	18936116	18936116	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	LOC102724788:NM_001368249:exon1:c.G172A:p.A58T	.	.	24	1429	63	6	0	75	0.0255711	.	.	470907	not_provided|Proline_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.004	N	0.000	P	-0.925	N	1.87	T	-1.030	T	0.000	T	0.022	1.253	10.08	-4.35	-0.476	-1.355	2.731	0.015	.	0.0178	0.0297524	0.0113	0.0437	0.0270	0	.	0.0276	0.0521	0.0047	0.0057955	896	154602	rs146648839	.	0.0005	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.004238	0.33968	N	0.182978	0.998905	0.58761	P	.	.	.	1.87	0.24085	T	0.13	0.05503	N	0.017	0.00226	-1.0297	0.20551	T	0.000	0.00152	T	9	0.0018523335	0.00025	T	.	.	.	0.015	0.02232	.	.	.	.	0.19949824960512247	0.19866	0.267482903043	0.29292	0.879037797451	0.93830	D	0.001812	0.01233	T	-0.760368	0.00015	T	-0.81943	0.01464	T	0.00535536718093038	0.00058	T	0.640736	0.25328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.	.;.	-0.781814	0.01143	0.053	0.96452116232186036	0.29869	0.03046	0.07940	N	AEFDBHCI	0.057252	0.10648	N	-1.61886401112635	0.01173	0.05099661	-1.5572768422115	0.01926	0.08788814	0.999999863836608	0.74766	0.441713	0.08003	0	0.514364	0.08380	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	2.4	-4.35	0.03402	-1.259000	0.02970	-4.364000	0.02195	-0.634000	0.04471	0.058000	0.21700	0.000000	0.08366	0.092000	0.17891	0.3523:0.232:0.0:0.4157	2.731	0.04906	929	0.16858	.;.	.	.	.	.	rs146648839	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2042.98	36	chr22	18936116	.	C	T	2042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.419;DP=941;ExcessHet=0.0000;FS=1.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=-1.449e+00;QD=11.04;ReadPosRankSum=0.838;SOR=0.644	GT:AD:DP:GQ:PL	0/1:95,90:185:99:2057,0,2075	20	0	1	0
chr22	20053469	20053469	G	A	exonic	TANGO2	.	nonsynonymous SNV	TANGO2:NM_001283116:exon5:c.G298A:p.V100M	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1383261	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.85	P	0.164	B	0.070	N	1.000	N	0.055	N	2.02	T	-0.987	T	0.018	T	0.187	-0.258	2.759	-0.736	-0.068	0.031	4.987	0.020	0.00266179467874	.	.	2.476e-05	9.63e-05	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs772019892	1.026e-05	1.094e-05	6.808e-06	1.375e-05	5.04e-05	6.16e-06	4.89e-06	8.35e-06	4.55e-06	0	0	0	5.04e-05	0	0	1.079e-05	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.175	0.22400	T	0.235	0.36233	T	0.055	0.22733	B	0.031	0.21939	B	0.069579	0.21597	N	0.534882	1	0.08975	N	-0.26	0.03792	N	2.02	0.21119	T	0.32	0.05917	N	0.032	0.01658	-0.9870	0.33347	T	0.018	0.07282	T	10	0.027683675	0.00910	T	0.002662	0.05434	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.221242589083376	0.22039	0.12850032888	0.14489	0.250920236111	0.03865	T	0.002063	0.02829	T	-0.400331	0.02304	T	-0.631296	0.10317	T	0.0392945811870321	0.03563	T	0.893911	0.63821	D	0.044189204	0.07020	0.047959507	0.07023	0.044189204	0.07020	0.047959507	0.07023	-4.442	0.43461	T	0.10281366707563633	0.07857	0.096	0.16054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.149208	0.15371	11.80	0.54269293479158531	0.05104	0.02631	0.07223	N	AEFDGBCI	0.042722	0.06663	N	-1.04473653361047	0.07691	0.358158	-1.08985520404688	0.07899	0.3861124	0.999986798838924	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.61	-0.736	0.10572	0.059000	0.14199	0.168000	0.15485	-0.172000	0.11096	0.006000	0.17386	0.000000	0.08366	0.952000	0.50033	0.4882:0.1599:0.3519:0.0	4.987	0.13542	669	0.61081	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1227.98	37	chr22	20053469	.	G	A	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=837;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=0.124;SOR=0.811	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1242,0,1351	20	0	1	0
chr22	25890783	25890783	G	A	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon26:c.G4345A:p.D1449N	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	413	1108	1	0	0	1	0.00045106	.	.	1487857	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.993	D	2.365	M	-2.26	D	0.726	D	0.792	D	0.065	3.857	19.59	5.64	2.663	7.972	17.203	0.501	0.0768480889855	0.0003	.	0.0005	0.0001	0.0003	0.0003	0	0.0005	0	0.0010	0.0004722	73	154602	rs202224239	0.0005	0.0005	0.0005	0.0005	0.0011	0.0005	0.0005	0.0010	0.0009	5.974e-05	0.0002	0	0.0002	9.365e-05	0.0005	0.0005	0.0004	0.0011	0.0003	0.0003	0.0002	0.0004	0.0006	0.0002	0.0002	0.0004	0.0004	4.828e-05	0	0	0	0.0002	9.423e-05	0	0.0006	0.0005	0.0006	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	D	0.064020	0.993366	0.41917	D	3.34	0.90961	M	-2.26	0.87512	D	-4.44	0.77637	D	0.417	0.45709	0.726	0.93497	D	0.792	0.92934	D	10	0.18458587	0.33839	T	0.076848	0.72630	D	0.501	0.78413	.	.	0.970899974752	0.97059	0.26728367419351934	0.26641	0.379708804077	0.39358	0.473244875669	0.35126	T	0.354704	0.72181	T	-0.294198	0.09219	T	-0.25172	0.49648	T	0.216308633819554	0.21278	T	0.939406	0.77188	D	0.5960367	0.72477	0.50737745	0.71529	0.5960367	0.72478	0.50737745	0.71529	-8.384	0.63659	D	.	.	0.106	0.19800	B	.;.;.	.;.;.	4.818337	0.78455	26.9	0.99912097264948219	0.98095	0.98872	0.87979	D	AEFGBI	0.878069	0.80310	D	0.736028199703135	0.81993	7.654022	0.666288164157704	0.79829	7.165723	0.999999772896578	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	8.654000	0.90844	11.663000	0.94010	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.546000	0.30079	0.0:0.0:1.0:0.0	17.203	0.86792	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1179.98	34	chr22	25890783	.	G	A	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.087;DP=896;ExcessHet=0.0000;FS=2.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=0.612;SOR=0.476	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1194,0,1035	20	0	1	0
chr22	27800053	27800053	C	G	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G491C:p.S164T,	Meningioma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.003	B	0.000	D	0.997	N	0	N	-0.03	T	-1.022	T	0.105	T	0.053	1.634	11.42	3.27	0.741	1.316	10.222	0.166	0.0184296334081	.	.	0.0002	0	0.0001	0	0	1.948e-05	0	0.0011	0.0001164	18	154602	rs779530474	4.417e-05	4.378e-05	3.023e-05	5.825e-05	0.0007	3.54e-05	3.221e-05	0.0006	0.0005	0	0	0	0	0	0	9.001e-07	0	0.0007	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.216	0.19225	T	0.231	0.25061	T	0.0	0.02946	B	0.003	0.08700	B	0.000135	0.49741	D	0.173853	0.996897	0.22865	N	0	0.06538	N	-0.03	0.63077	T	-1.78	0.42001	N	0.03	0.00717	-1.0215	0.23227	T	0.105	0.38562	T	10	0.019952983	0.00452	T	0.01843	0.40491	T	0.166	0.42578	0.039	0.00029	0.769421126801	0.76731	0.13360613568991353	0.13284	.	.	0.61151278019	0.54529	T	0.158608	0.50170	T	-0.497607	0.00590	T	-0.543903	0.17916	T	0.102817101147906	0.12664	T	0.464953	0.13579	T	0.29865593	0.52783	0.30516252	0.56544	0.29865593	0.52783	0.30516252	0.56543	-5.076	0.37653	T	.	.	0.102	0.17995	B	.	.	2.701630	0.35291	19.86	0.95605919097394731	0.27352	0.94426	0.61127	D	ALL	0.322602	0.42504	N	-0.412876007569404	0.25016	1.354987	-0.212757750571942	0.31076	1.755436	0.999999998196147	0.74766	0.443343	0.08805	1	0.547309	0.14657	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	5.37	3.27	0.36580	1.390000	0.34072	3.988000	0.40963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7891:0.137:0.0739	10.222	0.42380	981	0.03995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1461.98	35	chr22	27800053	.	C	G	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.319e+00;DP=876;ExcessHet=0.0000;FS=1.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=0.597;SOR=0.860	GT:AD:DP:GQ:PL	0/1:80,67:147:99:1476,0,1958	20	0	1	0
chr22	30366082	30366082	G	A	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon3:c.G82A:p.V28I	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.996	D	.	.	1.000	D	1.905	M	1.25	T	-0.595	T	0.283	T	0.415	3.622	18.43	5.36	2.685	7.250	17.241	0.157	0.0141185052877	0.0002	.	8.273e-05	0	0	0	0	0.0001	0	6.058e-05	6.47e-05	10	154602	rs368016774	4.182e-05	4.241e-05	4.64e-05	3.72e-05	0.0028	3.318e-05	3.007e-05	0.0017	0.0014	0	2.236e-05	0	0	3.975e-05	0.0028	2.878e-05	9.942e-05	4.637e-05	6.566e-05	6.561e-05	3.855e-05	9.401e-05	0.0001	3.514e-05	2.615e-05	4.766e-05	3.34e-05	2.406e-05	0	0	0.0003	0	0	0.0034	0.0001	0	0	0.093	0.40068	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.991652	0.41441	D	2.215	0.62545	M	0.61	0.53516	T	-0.71	0.20145	N	0.179	0.22486	-0.5953	0.65008	T	0.283	0.65468	T	9	0.25547695	0.42941	T	0.014119	0.34021	T	0.157	0.40909	.	.	0.270447802918	0.26645	0.2896293672047166	0.28875	0.0692228764324	0.07746	0.524654746056	0.42282	T	0.020941	0.16396	T	-0.172807	0.24811	T	-0.299465	0.44780	T	0.134574130945683	0.15798	T	0.743826	0.36376	T	0.06278155	0.13149	0.09629504	0.22874	0.06278155	0.13149	0.09629504	0.22873	-4.058	0.24668	T	.	.	0.118	0.34116	B	.;.;.;.;.	.;.;.;.;.	3.039980	0.40753	21.2	0.99753059335246352	0.84460	0.98492	0.83351	D	AEFDBI	0.689480	0.65013	D	0.703303643594976	0.79847	7.165436	0.677825898925095	0.80698	7.35718	0.999999999938381	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.36	5.36	0.76624	7.325000	0.78398	7.517000	0.59705	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.0:0.0:1.0:0.0	17.241	0.86895	305	0.87738	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1488.98	35	chr22	30366082	.	G	A	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.597;DP=858;ExcessHet=0.0000;FS=3.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-5.390e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1503,0,1544	20	0	1	0
chr22	36935416	36935416	C	T	exonic	CSF2RB	.	nonsynonymous SNV	CSF2RB:NM_000395:exon11:c.C1381T:p.R461C,	Surfactant metabolism dysfunction, pulmonary, 5, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	1396855	not_provided|Surfactant_metabolism_dysfunction,_pulmonary,_5	MedGen:C3661900|MONDO:MONDO:0013712,MedGen:C3280574,OMIM:614370,Orphanet:264675	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.792	P	0.133	N	0.997	D	2.075	M	-2.43	D	0.456	D	0.769	D	0.653	2.524	14.40	4.02	2.719	2.162	8.447	0.643	0.0918152840239	7.7e-05	0.000998403	0.0003	0	8.664e-05	0.0002	0	0.0001	0.0033	0.0011	0.0002458	38	154602	rs371045078	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0001	2.236e-05	0	2.519e-05	1.872e-05	0	7.374e-05	0.0002	0.0010	8.535e-05	8.53e-05	6.423e-05	0.0001	0.0006	4.953e-05	3.96e-05	0.0002	9e-05	0.0001	0	6.534e-05	0	0	0	0	2.94e-05	0.0005	0.0006	0.032	0.44694	D	0.007	0.69154	D	1.0	0.90584	D	0.792	0.57793	P	0.132949	0.18568	N	0.467902	0.994708	0.43428	D	1.83	0.48079	L	-2.43	0.91851	D	-2.06	0.47175	N	0.668	0.68342	0.456	0.89917	D	0.769	0.92146	D	10	0.12896541	0.24536	T	0.091815	0.75777	D	0.643	0.86435	.	.	0.949765678837	0.94923	0.6104394273750483	0.60975	0.264718964347	0.29026	0.296754688025	0.09919	T	0.364685	0.73023	T	-0.105609	0.35494	T	0.00670126	0.70770	D	0.028738436245557	0.01798	T	0.882612	0.60317	D	0.086426884	0.20088	0.06215375	0.12114	0.086426884	0.20087	0.06215375	0.12114	-7.081	0.57187	T	0.8082888856359398	0.88373	0.187	0.40618	B	.;.;.	.;.;.	4.444832	0.69046	25.3	0.99637572058507595	0.76449	0.36450	0.25536	N	AEFDBCI	0.145682	0.26894	N	0.387924843460932	0.60767	4.269334	0.409216150140624	0.62139	4.424345	0.998999302944423	0.38161	0.706548	0.73137	0	0.702456	0.74545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.04	4.02	0.45968	1.116000	0.30836	2.858000	0.35184	0.599000	0.40250	0.040000	0.20979	0.996000	0.32793	0.977000	0.56843	0.0:0.8984:0.0:0.1016	8.447	0.32006	921	0.19240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	920.98	36	chr22	36935416	.	C	T	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=850;ExcessHet=0.0000;FS=3.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-3.860e-01;SOR=1.082	GT:AD:DP:GQ:PL	0/1:57,42:99:99:935,0,1184	20	0	1	0
chr22	37374772	37374772	C	A	exonic	ELFN2	.	nonsynonymous SNV	ELFN2:NM_052906:exon3:c.G763T:p.V255L,	.	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.067	B	0.027	B	0.044	N	1.000	N	0	N	0.77	T	-1.076	T	0.030	T	0.099	-0.652	1.133	1.4	0.596	1.546	0.622	0.054	0.00561163835175	.	0.000798722	0.0011	0.0001	8.743e-05	0.0051	0.0051	0.0007	0.0012	0.0004	0.0009185	142	154602	rs139809906	0.0006	0.0006	0.0005	0.0006	0.0061	0.0005	0.0005	0.0054	0.0052	2.988e-05	0	0.0006	0.0061	0.0051	0.0003	0.0002	0.0007	0.0005	0.0008	0.0008	0.0007	0.0010	0.0060	0.0007	0.0007	0.0043	0.0038	0	0	6.539e-05	0	0.0060	0.0035	0	0.0007	0.0019	0.0017	0.472	0.08433	T	0.717	0.05398	T	0.067	0.23653	B	0.027	0.21085	B	0.044058	0.23678	N	0.439592	1	0.08975	N	0	0.06538	N	0.77	0.49642	T	-0.65	0.18877	N	0.035	0.03956	-1.0759	0.08164	T	0.030	0.13111	T	10	0.003607124	0.00065	T	0.005612	0.14500	T	0.054	0.15330	0.3	0.26683	0.279809986126	0.27602	0.5344290183458548	0.53367	0.638508109678	0.57566	0.433324575424	0.29663	T	0.039334	0.25154	T	-0.581588	0.00188	T	-0.607372	0.12198	T	0.00679877228337692	0.00077	T	0.650635	0.26150	T	0.053708557	0.10204	0.03960286	0.04092	0.053708557	0.10204	0.03960286	0.04091	-3.051	0.10741	T	.	.	0.077	0.06387	B	.;.	.;.	1.500878	0.19296	14.19	0.88532334713136207	0.18051	0.26461	0.22999	N	AEFDGBI	0.229327	0.35286	N	-0.872308433357998	0.11505	0.5555483	-0.794302925521638	0.14635	0.765676	0.991201119218547	0.32408	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.96	1.4	0.21393	1.578000	0.36135	3.882000	0.40245	0.568000	0.28809	0.005000	0.17040	0.977000	0.30130	0.623000	0.31974	0.1811:0.3628:0.1773:0.2788	0.622	0.00729	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1474.98	36	chr22	37374772	.	C	A	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=1968;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-8.860e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1489,0,1320	20	0	1	0
chr22	37922415	37922415	G	A	exonic	MICALL1	.	nonsynonymous SNV	MICALL1:NM_033386:exon6:c.G1013A:p.S338N,	.	.	449	1069	4	0	0	4	0.00186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.305	N	1.000	D	1.04	L	0.53	T	-1.072	T	0.103	T	0.016	0.662	7.547	2.58	0.394	1.927	9.564	0.073	0.0659094568594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.903e-06	4.104e-06	2.863e-06	2.944e-06	0.0002	6.8e-07	4.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0.0002	1.862e-06	1.742e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.305478	0.14524	N	0.598323	0.999726	0.20581	N	0	0.06538	N	0.53	0.55090	T	-0.48	0.15379	N	0.134	0.13055	-1.0718	0.09022	T	0.103	0.37994	T	9	0.09940836	0.18037	T	0.065909	0.69720	D	0.073	0.21317	0.145	0.04843	0.564208378351	0.56084	0.14016215337996407	0.13939	0.215576983653	0.24092	0.566994547844	0.48253	T	0.014988	0.12654	T	-0.285122	0.10131	T	-0.647335	0.09141	T	0.0769251870783705	0.09589	T	0.59564	0.22108	T	0.046981554	0.07955	0.06926147	0.14571	0.046981554	0.07954	0.06926147	0.14571	-5.846	0.44973	T	.	.	0.097	0.15832	B	.	.	2.009961	0.25536	16.80	0.83287354968506033	0.14643	0.74457	0.36425	D	AEFDBHCI	0.092818	0.18788	N	-0.604529867770122	0.18807	0.9794038	-0.54190011872429	0.21021	1.135235	0.956637902068587	0.28258	0.732398	0.92422	0	0.743671	0.97443	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	4.75	2.58	0.30011	1.996000	0.40396	3.803000	0.39877	0.640000	0.52149	0.995000	0.38783	1.000000	0.68203	0.011000	0.09372	0.168:0.0:0.832:0.0	9.564	0.38550	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	641.98	31	chr22	37922415	.	G	A	641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.390e-01;DP=406;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.473;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,28:46:99:656,0,387	20	0	1	0
chr22	38085304	38085304	C	A	exonic	BAIAP2L2	.	nonsynonymous SNV	BAIAP2L2:NM_025045:exon14:c.G1586T:p.R529L,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.894	P	0.031	U	1.000	D	2.125	M	.	.	-0.575	T	0.233	T	0.589	4.145	21.4	3.25	0.902	0.607	8.665	0.165	.	.	0.00199681	0.0008	0	0	0.0108	0	0	0	0.0002	0.000705	109	154602	rs185758992	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0059	0.0056	0	2.237e-05	0	0.0066	0	0.0002	3.598e-06	0.0003	0.0001	0.0003	0.0003	0.0003	0.0004	0.0095	0.0003	0.0002	0.0074	0.0066	0	0	0	0	0.0095	0	0	0	0.0005	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.894	0.63417	P	0.030591	0.25287	U	0.424455	0.93043	0.36957	D	2.865	0.83145	M	.	.	.	-3.96	0.73579	D	0.448	0.48596	-0.5746	0.65831	T	0.233	0.59941	T	9	0.009226143	0.00208	T	.	.	.	0.165	0.42395	.	.	0.701695226393	0.69910	0.19023304253407083	0.18941	0.859992518265	0.68915	0.532100081444	0.43331	T	0.084139	0.37213	T	-0.256909	0.13265	T	-0.131421	0.60852	T	0.143486243645006	0.16571	T	0.868713	0.57175	D	0.3238965	0.54967	0.36021626	0.61467	0.3238965	0.54967	0.36021626	0.61466	-12.131	0.85483	D	.	.	0.416	0.66553	A	.;.	.;.	4.098995	0.61106	24.3	0.99802498327403544	0.88728	0.87804	0.47470	D	AEFDBI	0.338397	0.43588	N	0.3589373140819	0.59214	4.098887	0.2816655700218	0.54469	3.611828	0.999752237219839	0.42595	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.3	3.25	0.36363	0.954000	0.28772	1.039000	0.23542	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.8169:0.0:0.1831	8.665	0.33278	497	0.76227	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	872.98	39	chr22	38085304	.	C	A	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=800;ExcessHet=0.0000;FS=2.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-4.580e-01;SOR=1.058	GT:AD:DP:GQ:PL	0/1:57,40:97:99:887,0,1238	20	0	1	0
chr22	38779599	38779599	C	T	exonic	DNAL4	.	nonsynonymous SNV	DNAL4:NM_005740:exon4:c.G168A:p.M56I,	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.12	B	0.133	B	0.000	D	1.000	D	1.915	M	.	.	-0.630	T	0.298	T	0.841	2.519	14.38	5.25	2.435	7.790	18.837	0.520	0.020705448332	.	.	0.0002	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs756201896	3.249e-05	3.557e-05	1.098e-05	5.431e-05	0.0005	2.504e-05	2.244e-05	0.0004	0.0004	0	0	0	0	0	0	9.06e-07	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.16	0.31427	T	0.12	0.26678	B	0.133	0.33073	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.295	0.65404	M	.	.	.	-2.51	0.54546	D	0.668	0.67650	-0.6299	0.63575	T	0.298	0.66914	T	9	0.24470827	0.41706	T	0.020705	0.43358	T	0.520	0.79583	0.501	0.59304	0.277730125212	0.27379	0.6109386136033088	0.61025	0.20676314425	0.23106	0.851361572742	0.89820	D	0.174004	0.52308	T	0.0755347	0.61515	D	0.209116	0.83617	D	0.250956100936623	0.22916	T	0.957004	0.83719	D	0.410421	0.61447	0.38633773	0.63528	0.410421	0.61448	0.38633773	0.63528	-2.284	0.04468	T	.	.	0.670	0.71738	P	.	.	4.319969	0.66108	24.9	0.97527301640840158	0.34437	0.99093	0.91122	D	AEFBI	0.918391	0.88738	D	0.10698720052182	0.46787	2.913901	0.202952452630476	0.50010	3.19767	0.999999999999715	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	7.878000	0.85659	5.752000	0.49633	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.837	0.92135	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1067.98	33	chr22	38779599	.	C	T	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=793;ExcessHet=0.0000;FS=1.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.767e+00;SOR=0.884	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1082,0,904	20	0	1	0
chr22	41866945	41866947	GCA	-	exonic	SREBF2	.	nonframeshift deletion	SREBF2:NM_004599:exon2:c.203_205del:p.S74del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0052	0.0066	0.0051	0.0024	0.0046	0.0022	0.0036	0.0001153	3	26028	rs143615881	6.878e-06	0.0025	6.842e-06	6.914e-06	1.165e-05	3.48e-06	2.54e-06	8.5e-07	5.7e-07	0	0	0	0	7.583e-05	0	3.615e-06	1.666e-05	1.165e-05	1.317e-05	9.859e-05	2.574e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	141.94	33	chr22	41866944	.	GGCA	G	141.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.677e+00;DP=828;ExcessHet=0.0000;FS=1.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=-6.380e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/1:102,11:113:99:156,0,4211	20	0	1	0
chr22	46258347	46258347	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G4976A:p.R1659K,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.001	B	0.655	N	1.000	N	0.28	N	1.36	T	-1.029	T	0.031	T	0.02	0.640	7.437	-8.93	-1.928	-2.152	1.889	0.008	0.00309861398497	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385757873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.03776	T	0.918	0.02891	T	0.0	0.02946	B	0.001	0.04355	B	0.655380	0.05948	N	1.209470	1	0.08975	N	-0.335	0.03518	N	1.36	0.34452	T	-0.19	0.09965	N	0.016	0.00203	-1.0289	0.20811	T	0.031	0.13418	T	10	0.020137876	0.00459	T	0.003099	0.06726	T	0.008	0.00669	0.376	0.38994	0.0954503805726	0.09146	0.12004650037665156	0.11931	.	.	0.237354636192	0.02556	T	0.118205	0.43885	T	-0.429221	0.01498	T	-0.854322	0.00907	T	0.0507645816283648	0.05633	T	0.241076	0.03466	T	0.037378486	0.04780	0.04119034	0.04624	0.037378486	0.04780	0.04119034	0.04623	-2.863	0.08778	T	.	.	0.084	0.09772	B	.	.	-1.763800	0.00170	0.003	0.59819356294959658	0.06314	0.00987	0.03753	N	AEFBCI	0.027689	0.02306	N	-1.61959410718921	0.01170	0.05085068	-1.70953820795124	0.01096	0.04922815	0.99999983046492	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.95	-8.93	0.00663	-2.017000	0.01533	-3.037000	0.03118	-0.309000	0.06099	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2673:0.3542:0.0904:0.288	1.889	0.03047	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	757.98	37	chr22	46258347	.	C	T	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.720e-01;DP=1001;ExcessHet=0.0000;FS=0.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.208;SOR=0.936	GT:AD:DP:GQ:PL	0/1:27,33:60:99:772,0,658	20	0	1	0
chr22	46397724	46397724	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon12:c.A5651G:p.N1884S	.	.	417	1053	52	0	0	52	0.0240964	.	.	2736118	CELSR1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.435	B	0.109	B	0.001	U	1.000	D	1.765	L	1.59	T	-1.088	T	0.051	T	0.123	1.502	10.97	4.39	1.763	5.628	13.567	0.099	.	0.0035	0.00439297	0.0102	0.0019	0.0097	0.0003	0.0262	0.0119	0.0145	0.0112	0.0043208	668	154602	rs144122307	0.0055	0.0055	0.0054	0.0056	0.0336	0.0054	0.0054	0.0297	0.0282	0.0009	0.0044	0.0041	2.63e-05	0.0065	0.0336	0.0056	0.0063	0.0071	0.0043	0.0043	0.0041	0.0046	0.0060	0.0041	0.0040	0.0051	0.0049	0.0013	0	0.0050	0.0023	0.0002	0.0087	0.0068	0.0055	0.0095	0.0060	0.095	0.31235	T	0.099	0.38891	T	0.104	0.25941	B	0.024	0.20255	B	0.000929	0.41028	U	0.149021	0.970658	0.25693	N	1.8	0.47472	L	1.59	0.28836	T	-2.85	0.60029	D	0.468	0.50418	-1.0883	0.05821	T	0.051	0.21689	T	10	0.0123339	0.00265	T	.	.	.	0.099	0.28413	.	.	0.51743518642	0.51388	0.17866635132833883	0.17785	0.180036691928	0.20253	0.33372759819	0.15496	T	0.476755	0.80727	T	-0.553792	0.00277	T	-0.564115	0.15992	T	0.0322841818226493	0.02352	T	0.834417	0.50357	T	0.123880945	0.29080	0.12335056	0.29745	0.123880945	0.29079	0.12335056	0.29745	-5.796	0.44540	T	.	.	0.093	0.14062	B	.	.	2.594154	0.33663	19.40	0.90232056920767623	0.19504	0.97015	0.72198	D	AEFDBI	0.707286	0.66206	D	-0.195903848770706	0.33304	1.887959	-0.176973184716431	0.32385	1.84195	0.999991459268569	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.39	4.39	0.52211	5.776000	0.68576	7.625000	0.62478	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.0:1.0	13.567	0.61287	970	0.06235	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	984.98	33	chr22	46397724	.	T	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.353;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=1.36;SOR=0.693	GT:AD:DP:GQ:PL	0/1:49,49:98:99:999,0,994	20	0	1	0
chr22	50674625	50674625	C	T	exonic	SHANK3	.	nonsynonymous SNV	SHANK3:NM_001372044:exon3:c.C209T:p.P70L,	Phelan-McDermid syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478574809	2.142e-05	2.532e-05	1.11e-05	3.334e-05	0.0005	1.338e-05	1.104e-05	8.679e-05	3.607e-05	0	0	0	0.0005	0	0	1.306e-05	0.0001	0.0001	1.391e-05	1.337e-05	0	2.859e-05	0.0004	2.31e-06	8.7e-07	7.512e-05	3.111e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	861.04	11	chr22	50674625	.	C	T	861.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.040e-01;DP=296;ExcessHet=0.0000;FS=3.244;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.117;SOR=0.356	GT:AD:DP:GQ:PL	0/1:37,40:77:99:875,0,822	20	0	1	0
chrX	7843783	7843783	G	C	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G388C:p.V130L,	.	.	628	885	7	0	2	9	0.00393922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.0	B	.	.	1.000	D	-0.69	N	2.2	T	-0.906	T	0.000	T	0.028	-1.541	0.015	.	-2.297	-0.503	5.508	0.021	0.0210771077957	0.0852	.	0.0011	0.0009	0.0035	0.0002	0	0.0006	0.0032	0.0029	0.0002305	6	26028	rs1637792	0.0003	0.0010	0.0004	4.7e-05	0.0039	0.0003	0.0002	0.0029	0.0026	0.0002	0.0039	0.0004	0.0001	0.0004	0.0013	0.0002	0.0005	0.0004	0.0003	0.0016	0.0003	0	0.0021	0.0001	0.0001	0.0008	0.0005	0	0	0.0021	0	0	0	0	0.0001	0.0043	0.0011	0.533	0.06957	T	0.392	0.15406	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.27	0.09956	N	2.2	0.18570	T	-0.71	0.20145	N	0.015	0.00181	-0.9056	0.47378	T	0.000	0.00075	T	8	0.0066510737	0.00151	T	0.021077	0.43792	T	0.021	0.04004	0.177	0.08379	0.043077524339	0.03247	0.00631535509176976	0.00599	0.346873610274	0.36588	0.431406795979	0.29401	T	0.004066	0.03473	T	-0.951774	0.00000	T	-1.13382	0.00013	T	0.00175461665710524	0.00018	T	0.344866	0.07558	T	0.09941479	0.23461	0.08077138	0.18300	0.09941479	0.23461	0.08077138	0.18300	-7.855	0.60078	D	.	.	0.155	0.34250	B	.	.	-0.006621	0.04236	1.044	0.2051822530432153	0.00741	0.00206	0.01180	N	AEFI	.	.	.	.	.	.	.	.	.	5.45383099769521E-4	0.07273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.926000	0.01654	-1.720000	0.04851	-1.803000	0.00622	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6544:0.3455:1.0E-4	5.508	0.16156	1000	0.00083	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.03125	212.96	69	chrX	7843783	.	G	C	212.96	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.752;DP=2164;ExcessHet=0.0000;FS=25.235;InbreedingCoeff=0.0788;MLEAC=1;MLEAF=0.031;MQ=51.97;MQRankSum=-3.129e+00;QD=1.70;ReadPosRankSum=-2.796e+00;SOR=1.442	GT:AD:DP:GQ:PL	0/1:104,21:125:99:225,0,2735	15	0	1	5
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,91,0,0:188:99:.:.:2161,0,2006,2450,2279,4729,2450,2279,4729,4729	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,91,0,0:188:99:.:.:2161,0,2006,2450,2279,4729,2450,2279,4729,4729	0	8	6	4
chrX	8795213	8795215	CTC	-	exonic	FAM9A	.	nonframeshift deletion	FAM9A:NM_001171186:exon7:c.694_696del:p.E232del	.	.	494	1025	1	0	2	3	0.000487567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0096	.	0.0044	0.0008	0.0026	0	0.0017	0.0070	0	0.0022	0.0004226	11	26028	rs755359486	0.0052	0.0062	0.0054	0.0046	0.0062	0.0051	0.0050	0.0061	0.0060	0.0013	0.0004	0.0038	7.375e-05	0.0017	0.0006	0.0062	0.0031	0.0017	0.0032	0.0033	0.0036	0.0023	0.0057	0.0029	0.0028	0.0052	0.0050	0.0008	0	0.0009	0.0012	0	0.0011	0	0.0057	0.0014	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1172.94	40	chrX	8795212	.	TCTC	T	1172.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=715;ExcessHet=0.0000;FS=1.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=-7.410e-01;SOR=0.974	GT:AD:DP:GQ:PL	0/1:49,33:82:99:1187,0,1870	20	0	1	0
chrX	11139069	11139069	G	C	exonic	ARHGAP6	.	nonsynonymous SNV	ARHGAP6:NM_001287242:exon13:c.C2179G:p.P727A	.	.	.	.	.	.	.	.	.	.	.	729364	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.538	N	1.000	N	-1.5	N	2.11	T	-0.960	T	0.012	T	0.035	-0.708	0.947	4.11	0.351	0.222	6.010	0.108	.	.	0.0010596	0.0019	0.0002	0.0120	0.0049	0	0	0	0	0.0011513	178	154602	rs199981819	0.0005	0.0005	0.0006	0.0005	0.0103	0.0005	0.0005	0.0095	0.0091	3.803e-05	0.0103	0	0.0060	5.179e-05	0.0003	7.153e-06	0.0006	1.879e-05	0.0008	0.0008	0.0008	0.0007	0.0067	0.0007	0.0006	0.0055	0.0050	6.417e-05	0	0.0067	0	0.0031	0	0	3.76e-05	0.0013	0	1.0	0.00964	T	0.76	0.04636	T	0.0	0.02946	B	0.0	0.01387	B	0.538372	0.11563	N	0.730154	1	0.08975	N	-1.15	0.00907	N	2.11	0.19990	T	0.38	0.03700	N	0.033	0.00882	-0.9600	0.39181	T	0.012	0.04795	T	10	0.0036105216	0.00065	T	.	.	.	0.108	0.30607	.	.	0.082315109003	0.07666	0.1108240936807119	0.11011	0.451114033433	0.44866	0.443554401398	0.31062	T	0.056227	0.30227	T	-0.929754	0.00000	T	-1.09533	0.00030	T	0.00305796263315646	0.00032	T	0.275872	0.04729	T	0.028663063	0.02237	0.06158154	0.11913	0.028663063	0.02237	0.06158154	0.11912	-3.359	0.14510	T	.	.	0.048	0.00086	B	.;.;.	.;.;.	-0.263403	0.02782	0.378	0.1085335959234489	0.00148	0.00079	0.00540	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999853246091289	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99	4.11	0.47350	-0.033000	0.12196	0.639000	0.20302	-0.178000	0.10482	0.000000	0.06391	0.142000	0.23101	0.001000	0.02609	0.0:0.5346:0.3024:0.1629	6.010	0.18794	377	0.83897	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1364.98	33	chrX	11139069	.	G	C	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.330e-01;DP=807;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=2.26;SOR=0.904	GT:AD:DP:GQ:PL	0/1:61,59:122:99:1379,0,1442	20	0	1	0
chrX	26194093	26194218	GATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTGATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCTGATGCAGGTGTTTCAGGCTCAAAATAT	-	exonic	MAGEB6	.	nonframeshift deletion	MAGEB6:NM_173523:exon2:c.247_372del:p.R98_S139del,	.	.	439	1066	11	5	1	22	0.00975383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0016	0.0003	0.0002	0.0002	0.0002	0	0.0005	.	.	.	.	0.0007	0.0008	0.0007	0.0008	0.0009	0.0007	0.0007	0.0007	0.0007	0.0009	0.0005	0.0006	0.0008	0.0005	0.0005	0.0008	0.0008	0.0008	0.0002	0.0002	0.0002	3.077e-05	0.0004	0.0001	8.708e-05	0.0002	0.0002	0.0004	0	0	0	0	0.0003	0	9.498e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1269.07	38	chrX	26194092	.	CGATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTGATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCTGATGCAGGTGTTTCAGGCTCAAAATAT	C	1269.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=1174;ExcessHet=0.1072;FS=0.563;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.68;MQRankSum=-1.737e+00;QD=2.56;ReadPosRankSum=-2.483e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,44:160:99:.:.:365,0,4790	19	0	2	0
chrX	26194125	26194125	T	0	exonic	MAGEB6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2574.15	38	chrX	26194125	.	T	G,*	2574.15	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=2.38;DP=1363;ExcessHet=0.3300;FS=1.142;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=3.62;ReadPosRankSum=-3.100e-02;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:116,0,44:160:99:.:.:365,714,5585,0,4871,4790	18	0	1	0
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/1:2,9,0,0,2,0,0:15:15:397,0,172,419,204,621,419,204,621,621,348,15,420,420,409,419,204,621,621,420,621,419,204,621,621,420,621,621	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/1:2,9,0,0,2,0,0:15:15:397,0,172,419,204,621,419,204,621,621,348,15,420,420,409,419,204,621,621,420,621,419,204,621,621,420,621,621	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/1:2,9,0,0,2,0,0:15:15:397,0,172,419,204,621,419,204,621,621,348,15,420,420,409,419,204,621,621,420,621,419,204,621,621,420,621,621	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/1:2,9,0,0,2,0,0:15:15:397,0,172,419,204,621,419,204,621,621,348,15,420,420,409,419,204,621,621,420,621,419,204,621,621,420,621,621	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/1:2,9,0,0,2,0,0:15:15:397,0,172,419,204,621,419,204,621,621,348,15,420,420,409,419,204,621,621,420,621,419,204,621,621,420,621,621	7	4	1	0
chrX	40692728	40692728	T	C	exonic	MED14	.	nonsynonymous SNV	MED14:NM_004229:exon14:c.A1825G:p.R609G,	.	.	435	1079	5	3	0	11	0.00507146	.	.	963970	Intellectual_disability|not_specified	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.079	B	0.016	B	0.001	D	1.000	N	1.39	L	.	.	-1.032	T	0.098	T	0.371	1.371	10.51	4.21	0.658	1.882	10.239	0.073	0.00490273137036	0.0004	.	0.0005	0.0001	0.0002	0	0	0.0007	0	0.0003	0.0004204	65	154602	rs145739870	0.0004	0.0005	0.0004	0.0005	0.0144	0.0004	0.0004	0.0113	0.0103	0.0009	0.0003	0.0019	0	0	0.0144	0.0003	0.0010	0.0005	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0009	0.0008	0.0001	0	0.0015	0.0026	0	0	0.0092	0.0006	0.0007	0.0011	0.268	0.16144	T	0.007	0.69154	D	0.079	0.24468	B	0.016	0.17743	B	0.000666	0.42516	D	0.284434	1	0.08975	N	1.61	0.41143	L	.	.	.	-0.82	0.22508	N	0.097	0.07811	-1.0315	0.19970	T	0.098	0.36600	T	9	0.012524694	0.00269	T	0.004903	0.12318	T	0.073	0.21317	.	.	0.248133497653	0.24425	0.38022173183262475	0.37937	0.109795811323	0.12382	0.289530426264	0.08854	T	0.112041	0.42800	T	-0.433843	0.01406	T	-0.460716	0.26521	T	0.0125827739555517	0.00209	T	0.818018	0.47523	T	0.13626401	0.31595	0.13553761	0.32448	0.13626401	0.31595	0.13553761	0.32447	-1.745	0.02350	T	.	.	0.088	0.11510	B	.	.	2.213112	0.28233	17.73	0.97058114391650008	0.32184	0.17092	0.19685	N	AEFBI	.	.	.	.	.	.	.	.	.	0.802896841596843	0.24218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.42	4.21	0.48984	2.244000	0.42775	1.862000	0.29329	-0.236000	0.07595	0.117000	0.23121	0.999000	0.35428	0.746000	0.35646	0.0:0.0:0.1641:0.8359	10.239	0.42481	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	4182.66	33	chrX	40692728	.	T	C	4182.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.55;DP=883;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.40;ReadPosRankSum=0.712;SOR=0.786	GT:AD:DP:GQ:PL	0/1:50,39:89:99:823,0,1062	19	1	1	0
chrX	44844457	44844457	G	T	exonic	DUSP21	.	stopgain	DUSP21:NM_022076:exon1:c.G325T:p.G109X,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.561	18.15	3.82	2.163	9.492	12.742	.	.	0.0002	0.0010596	0.0003	0.0001	0.0001	0	0	0.0005	0	0.0004	0.0003363	52	154602	rs148315361	0.0004	0.0004	0.0004	0.0005	0.0006	0.0004	0.0004	0.0004	0.0004	0.0001	2.841e-05	0	0	4.936e-05	0	0.0005	0.0002	0.0006	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	6.563e-05	0	0.0002	0	0	0.0002	0.0046	0.0005	0.0007	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.374	0.41557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315717	0.84166	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.928130	0.95924	35	0.99080552210333883	0.51954	0.97654	0.76186	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999960446	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.82	3.82	0.43153	9.893000	0.98592	4.894000	0.45793	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:0.0:1.0:0.0	12.742	0.56631	654	0.62520	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	38	chrX	44844457	.	G	T	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=784;ExcessHet=0.0000;FS=7.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=1.38;SOR=0.626	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1014,0,1070	20	0	1	0
chrX	46860080	46860080	C	G	exonic	RP2	.	nonsynonymous SNV	RP2:NM_006915:exon3:c.C861G:p.D287E,	Retinitis pigmentosa 2, X-linked	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.004	N	0.508	N	0.805	L	-1.05	T	-0.904	T	0.175	T	0.025	0.884	8.588	-0.524	-0.134	-0.136	4.248	0.168	0.230313912941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164991027	1.322e-05	0.0002	1.926e-05	0	1.486e-05	7.67e-06	6e-06	7.92e-06	6.26e-06	0	0	0	0	2.497e-05	0	1.486e-05	2.235e-05	0	1.798e-05	2.619e-05	2.576e-05	0	6.526e-05	2.99e-06	1.12e-06	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.761	0.03471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004404	0.33773	N	0.334919	0.507853	0.31672	N	0.57	0.15267	N	-1.05	0.76690	T	0.03	0.06612	N	0.03	0.00717	-0.9042	0.47538	T	0.175	0.51911	T	10	0.058759242	0.06959	T	0.230314	0.88224	D	0.168	0.42943	0.195	0.10705	0.128874641272	0.12493	0.2934621766006824	0.29259	0.277198454346	0.30193	0.347113490105	0.17496	T	0.056646	0.30345	T	-0.384829	0.02904	T	-0.790557	0.02150	T	0.0884944275021553	0.11037	T	0.659134	0.26825	T	0.07924659	0.18093	0.045651473	0.06190	0.07924659	0.18093	0.045651473	0.06189	-3.296	0.13686	T	0.16473243430326467	0.20376	0.083	0.09094	B	.	.	1.155586	0.15440	11.85	0.95785485670045956	0.27815	0.83476	0.42591	D	AEFBI	.	.	.	.	.	.	.	.	.	0.752834093680785	0.23387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.65	-0.524	0.11325	-0.132000	0.10446	0.440000	0.18415	0.599000	0.40250	0.838000	0.30254	0.994000	0.32194	0.991000	0.66497	0.3325:0.2238:0.0:0.4437	4.248	0.10130	131	0.94738	Tubulin binding cofactor C-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	51.38	40	chrX	46860080	.	C	G	51.38	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.552e+00;DP=840;ExcessHet=0.3300;FS=305.774;InbreedingCoeff=-0.0921;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.29;SOR=8.713	GT:AD:DP:GQ:PL	0/1:89,24:113:42:42,0,1821	18	0	3	0
chrX	49219766	49219768	TCC	-	exonic	CACNA1F	.	nonframeshift deletion	CACNA1F:NM_001256789:exon20:c.2409_2411del:p.E814del	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	17	1487	11	5	2	23	0.00701169	.	.	706258	CACNA1F-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0141	.	0.0015	0.0003	0.0017	0.0024	0.0012	0.0014	0.0049	0.0021	0.0001537	4	26028	rs782500267	0.0013	0.0066	0.0018	0.0001	0.0015	0.0012	0.0012	0.0014	0.0014	0.0005	0.0004	0.0004	0.0005	0.0007	0.0008	0.0015	0.0009	0.0008	6.462e-05	0.0002	7.767e-05	3.217e-05	0.0004	2.981e-05	2.122e-05	2.742e-05	1.459e-05	0.0001	0	9.854e-05	0	0	0	0	3.813e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	120.94	35	chrX	49219765	.	TTCC	T	120.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.225e+00;DP=851;ExcessHet=0.0000;FS=1.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=-5.700e-02;SOR=0.880	GT:AD:DP:GQ:PL	0/1:81,9:93:99:135,0,3295	20	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	1/1:0,3:3:9:85,9,0	0	6	15	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:3,1:4:13:13,0,76	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	1/1:0,6:6:18:163,18,0	0	1	20	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T	.	.	377	953	191	1	0	193	0.0919485	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.393	B	0.677	P	0.039	N	1.000	N	0.6	N	0.95	T	-0.952	T	0.090	T	0.133	0.679	7.632	-0.877	-0.346	-0.374	4.189	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	1891.57	399	chrX	55146226	.	A	G	1891.57	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.994;DP=9340;ExcessHet=1.1607;FS=0.843;InbreedingCoeff=-0.1278;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=-9.600e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/1:3,2:5:34:34,0,59	16	0	5	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,1:5:30:0|1:55146247_G_C:30,0,124:55146247	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,1,0:5:30:0|1:55146247_G_C:30,0,124,42,127,169:55146247	4	0	16	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:1,2:3:36:40,0,36	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1:3:36:0|1:55146247_G_C:36,0,81:55146247	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1,0:3:36:0|1:55146247_G_C:36,0,81,42,84,126:55146247	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1,0:3:36:0|1:55146247_G_C:36,0,81,42,84,126:55146247	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	20	0
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	3/5:0,0,4,27,0,25,0:58:99:1886,1880,2088,1608,1882,1953,857,858,626,717,1880,2088,1882,858,2088,861,1030,903,0,1030,877,1880,2088,1882,858,2088,1030,2088	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	3/5:0,0,4,27,0,25,0:58:99:1886,1880,2088,1608,1882,1953,857,858,626,717,1880,2088,1882,858,2088,861,1030,903,0,1030,877,1880,2088,1882,858,2088,1030,2088	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	3/5:0,0,4,27,0,25,0:58:99:1886,1880,2088,1608,1882,1953,857,858,626,717,1880,2088,1882,858,2088,861,1030,903,0,1030,877,1880,2088,1882,858,2088,1030,2088	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	3/5:0,0,4,27,0,25,0:58:99:1886,1880,2088,1608,1882,1953,857,858,626,717,1880,2088,1882,858,2088,861,1030,903,0,1030,877,1880,2088,1882,858,2088,1030,2088	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	3/5:0,0,4,27,0,25,0:58:99:1886,1880,2088,1608,1882,1953,857,858,626,717,1880,2088,1882,858,2088,861,1030,903,0,1030,877,1880,2088,1882,858,2088,1030,2088	5	3	1	1
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	.	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.264	N	0.950	D	1.545	L	3.03	T	-1.071	T	0.025	T	0.431	0.577	7.117	4.55	1.072	2.664	13.469	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	280.42	34	chrX	74591813	.	G	A	280.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.189e+00;DP=1340;ExcessHet=1.1607;FS=0.872;InbreedingCoeff=-0.1196;MLEAC=3;MLEAF=0.071;MQ=58.73;MQRankSum=-7.437e+00;QD=0.60;ReadPosRankSum=-3.262e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:135,16:151:2:2,0,3462	16	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,35:186:99:0|1:74591902_T_A:1015,0,6235:74591902	8	0	13	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	.	10	1315	197	0	0	197	0.0696852	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.017	N	1.000	N	0.895	L	-1.6	D	-0.872	T	0.310	T	0.192	-1.096	0.146	4.1	1.077	-0.129	7.602	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1974.03	34	chrX	74591957	.	C	T	1974.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.777e+00;DP=2767;ExcessHet=1.7912;FS=2.136;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.08;MQRankSum=-1.348e+01;QD=1.28;ReadPosRankSum=-2.514e+00;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,22:158:99:0|1:74591902_T_A:514,0,5644:74591902	15	0	6	0
chrX	75274469	75274469	C	T	exonic	UPRT	.	nonsynonymous SNV	UPRT:NM_001307944:exon1:c.C215T:p.S72F	.	.	431	1079	8	4	0	16	0.00735971	.	.	1196408	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.15	B	0.052	B	0.000	N	1.000	N	0.345	N	.	.	-1.070	T	0.049	T	0.286	1.815	12.03	-2.19	-1.009	-0.310	1.506	0.067	0.00866531453799	0.0006	.	0.0005	0	0.0009	0	0	0.0008	0	0.0001	0.0004592	71	154602	rs144630001	0.0007	0.0007	0.0006	0.0007	0.0215	0.0006	0.0006	0.0179	0.0166	0.0005	0.0007	0.0055	0	0	0.0215	0.0005	0.0019	0.0002	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	9.734e-05	0	0.0003	0.0030	0	0	0.0139	0.0005	0.0026	0	0.01	0.57480	D	0.035	0.53426	D	0.019	0.17989	B	0.023	0.19966	B	0.000290	0.00554	N	3.815970	1	0.08975	N	0	0.06538	N	.	.	.	-1.08	0.28497	N	0.161	0.16864	-1.0704	0.09326	T	0.049	0.20868	T	9	0.0054303706	0.00120	T	0.008665	0.22878	T	0.067	0.19503	.	.	0.043077524339	0.03247	0.23397083950401912	0.23312	0.189411528645	0.21256	0.329345345497	0.14835	T	0.181773	0.53355	T	-0.606822	0.00132	T	-0.73238	0.04221	T	0.0238014036086912	0.01120	T	0.751225	0.37284	T	0.06055136	0.12439	0.08877476	0.20720	0.06055136	0.12439	0.08877476	0.20719	-5.924	0.45639	T	.	.	0.085	0.11845	B	.;.	.;.	1.378445	0.17898	13.43	0.97081343485066285	0.32281	0.02092	0.06211	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999216082	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.14	-2.19	0.06621	-0.090000	0.11129	.	.	-0.206000	0.08541	0.000000	0.06391	.	.	0.251000	0.23288	0.1261:0.2219:0.2448:0.4072	1.506	0.02337	197	0.92378	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1193.98	39	chrX	75274469	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=797;ExcessHet=0.0000;FS=1.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-6.560e-01;SOR=0.526	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1208,0,1161	20	0	1	0
chrX	100688421	100688423	TCT	-	exonic	SYTL4	.	nonframeshift deletion	SYTL4:NM_001174068:exon10:c.933_935del:p.E311del	.	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0148	0.00317881	0.0015	0.0018	0.0023	0.0003	0.0012	0.0016	0.0036	0.0003	0.0006147	16	26028	rs200492084	0.0006	0.0013	0.0006	0.0005	0.0144	0.0005	0.0005	0.0114	0.0104	0.0004	0.0008	5.199e-05	3.324e-05	0.0009	0.0144	0.0005	0.0007	0.0003	0.0005	0.0005	0.0006	0.0003	0.0007	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0003	0	0	0.0007	0.0094	0.0007	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2147.94	44	chrX	100688420	.	GTCT	G	2147.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.500e-01;DP=865;ExcessHet=0.0000;FS=1.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.52;ReadPosRankSum=0.600;SOR=0.846	GT:AD:DP:GQ:PL	0/1:60,56:116:99:2162,0,2289	20	0	1	0
chrX	103310433	103310433	C	T	exonic	BEX2	.	nonsynonymous SNV	BEX2:NM_001168399:exon2:c.G16A:p.V6I	.	.	.	.	.	.	.	.	.	0.1941	0.356	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.154	B	0.032	B	.	.	0.783	N	0	N	2.79	T	-0.975	T	0.013	T	0.07	2.199	13.31	2.32	0.633	0.531	4.819	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465352402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.29313	N	.	.	.	2.79	0.11189	T	-0.11	0.08653	N	0.224	0.25130	-0.9752	0.36082	T	0.013	0.05321	T	9	0.15440509	0.29125	T	0.015338	0.36015	T	0.014	0.01968	0.281	0.23642	0.123314135267	0.11883	0.01519891171370526	0.01475	0.175533902554	0.19762	0.581879675388	0.50350	T	.	.	.	-0.531417	0.00377	T	-1.00112	0.00137	T	0.187729850411415	0.19710	T	0.276672	0.04749	T	.	.	.	.	.	.	.	.	-3.821	0.21119	T	.	.	0.106	0.19679	B	.	.	0.997647	0.13759	10.30	0.99045252375720982	0.51118	0.11753	0.16839	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999993846046691	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.39	2.32	0.27895	0.664000	0.24749	-0.295000	0.10161	-0.239000	0.07538	0.991000	0.37257	0.048000	0.21764	0.006000	0.07323	0.0:0.7789:0.0:0.2211	4.819	0.12745	272	0.89337	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1135.98	33	chrX	103310433	.	C	T	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.342;DP=762;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.410;SOR=0.616	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1150,0,1446	20	0	1	0
chrX	103586685	103586685	C	A	exonic	TCEAL4	.	nonsynonymous SNV	TCEAL4:NM_001305841:exon2:c.C10A:p.L4I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.58	P	0.196	B	0.403	N	1.000	N	1.87	L	1.54	T	-0.930	T	0.255	T	0.222	1.136	9.630	0.679	0.040	-0.479	6.268	0.032	0.0159763224095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.121	0.35840	T	0.58	0.38813	P	0.196	0.36635	B	0.403018	0.04546	N	1.440100	1	0.08975	N	2.625	0.76847	M	1.28	0.70717	T	-0.55	0.39119	N	0.155	0.30574	-0.9302	0.44109	T	0.255	0.62541	T	10	0.082316935	0.13574	T	0.015976	0.37005	T	0.032	0.07718	0.425	0.47021	0.488693090275	0.48504	0.00977782005791381	0.00939	0.533384031208	0.50776	0.45457008481	0.32569	T	0.021222	0.32106	T	-0.229836	0.16671	T	-0.56792	0.15641	T	0.188946217298508	0.19782	T	0.790321	0.43084	T	0.084568456	0.19579	0.089110285	0.20819	0.084568456	0.19579	0.089110285	0.20818	-3.946	0.22993	T	.	.	0.100	0.16973	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.998249	0.13765	10.31	0.95950147882909897	0.28270	0.03830	0.09175	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999986690793095	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.72	0.679	0.17141	-0.970000	0.03919	-1.696000	0.04897	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.1995:0.4167:0.3837:0.0	6.268	0.20148	428	0.80967	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2256.98	34	chrX	103586685	.	C	A	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.028;DP=799;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.52;ReadPosRankSum=-1.263e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,58:110:99:0|1:103586685_C_A:2271,0,1972:103586685	20	0	1	0
chrX	103586686	103586686	T	A	exonic	TCEAL4	.	nonsynonymous SNV	TCEAL4:NM_001305841:exon2:c.T11A:p.L4H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.996	D	0.819	P	0.403	N	1.000	N	2.215	M	1.45	T	-0.807	T	0.384	T	0.425	2.417	14.04	1.13	0.134	0.572	2.734	0.101	0.0346176519615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.084	0.65728	T	0.996	0.68779	D	0.819	0.59018	P	0.403018	0.04546	N	1.440100	1	0.08975	N	2.625	0.76847	M	1.19	0.71779	T	-3.07	0.84246	D	0.342	0.40063	-0.8074	0.54706	T	0.384	0.73966	T	10	0.13960657	0.26543	T	0.034618	0.55797	D	0.101	0.28911	0.408	0.44230	0.425367727682	0.42151	0.06533262432703364	0.06472	0.958584464153	0.72918	0.502022981644	0.39110	T	0.084313	0.57543	T	-0.0735326	0.40760	T	-0.343401	0.39959	T	0.714543640613556	0.41424	D	0.736326	0.35288	T	0.2736307	0.50430	0.32049438	0.58004	0.2736307	0.50430	0.32049438	0.58003	-5.483	0.41709	T	.	.	0.196	0.41798	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.467902	0.31802	18.85	0.97029382990004387	0.32059	0.04859	0.10595	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999987958242482	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.72	1.13	0.19758	0.023000	0.13424	0.159000	0.15383	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.2248:0.1275:0.0:0.6477	2.734	0.04911	428	0.80967	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2256.98	34	chrX	103586686	.	T	A	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.378e+00;DP=799;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.52;ReadPosRankSum=-1.399e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,58:110:99:0|1:103586685_C_A:2271,0,1972:103586685	20	0	1	0
chrX	104250407	104250407	G	C	exonic	ESX1	.	nonsynonymous SNV	ESX1:NM_153448:exon4:c.C1042G:p.L348V,	.	.	570	929	18	1	4	24	0.0106496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	.	.	1.000	N	-0.69	N	-0.43	T	-1.054	T	0.069	T	0.074	-1.629	0.013	-6.96	-3.341	-2.386	3.521	0.048	0.0111461699686	.	.	0.0015	0	0.0046	0.0018	0	0.0003	0	0.0093	0.0001537	4	26028	rs76090537	0.0012	0.0040	0.0017	0.0002	0.0403	0.0012	0.0011	0.0372	0.0359	0.0002	0.0040	0.0034	0.0403	0.0044	0.0006	0.0005	0.0018	0.0012	0.0014	0.0083	0.0019	0.0001	0.0308	0.0011	0.0010	0.0232	0.0205	0.0002	0	0.0008	0.0008	0.0308	0.0005	0	0.0007	0	0.0080	0.715	0.03984	T	0.775	0.04402	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	-0.43	0.69657	T	-0.13	0.08971	N	0.037	0.01135	-1.0545	0.13172	T	0.069	0.28247	T	9	0.0045527816	0.00094	T	0.011146	0.28477	T	0.048	0.13305	0.295	0.25881	0.179529687257	0.17594	0.0501710872008618	0.04960	0.406424725356	0.41517	0.592590689659	0.51860	T	0.099879	0.40513	T	-0.740004	0.00021	T	-0.832294	0.01222	T	0.00590909445916991	0.00065	T	0.481052	0.14533	T	0.029580962	0.02476	0.046149902	0.06366	0.029580962	0.02476	0.046149902	0.06366	-1.595	0.01970	T	.	.	0.077	0.06571	B	.	.	-0.782163	0.01142	0.053	0.1363209158152989	0.00275	0.00257	0.01410	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999922702586134	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.48	-6.96	0.01465	-0.563000	0.06034	-3.992000	0.02407	-2.493000	0.00266	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2748:0.4207:0.2014:0.1031	3.521	0.07301	478	0.77585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	348.37	12	chrX	104250407	.	G	C	348.37	.	AC=2;AF=0.125;AN=16;BaseQRankSum=1.04;DP=393;ExcessHet=0.0000;FS=5.229;InbreedingCoeff=0.2443;MLEAC=4;MLEAF=0.250;MQ=50.15;MQRankSum=0.126;QD=34.84;ReadPosRankSum=-1.645e+00;SOR=1.996	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,9:10:21:1|1:104250407_G_C:362,21,0:104250407	7	1	0	13
chrX	107597479	107597479	C	T	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon15:c.C1699T:p.R567W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.000	D	0.572	D	1.245	L	0.45	T	-0.488	T	0.204	T	0.69	3.457	17.71	4.93	2.283	2.901	16.205	0.211	0.109442736658	.	.	1.217e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs759367486	5.468e-06	5.463e-06	4.087e-06	8.26e-06	6.621e-05	1.97e-06	1.29e-06	1.096e-05	4.1e-06	0	0	5.159e-05	6.621e-05	0	0	3.563e-06	0	0	8.94e-06	8.706e-06	1.285e-05	0	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.571527	0.32298	D	1.845	0.48678	L	0.45	0.56446	T	-4.25	0.76094	D	0.549	0.57518	-0.4881	0.69076	T	0.204	0.56211	T	8	0.24577779	0.41831	T	0.109443	0.78642	D	0.211	0.50185	0.301	0.26843	0.785258546633	0.78327	0.6892807479588642	0.68868	0.538728098851	0.51120	.	.	.	0.061882	0.31929	T	-0.112864	0.34296	T	-0.140218	0.60099	T	0.717216255817668	0.41559	D	0.916808	0.70203	D	0.82543737	0.85588	0.78998727	0.87645	0.82543737	0.85589	0.78998727	0.87646	-5.552	0.42351	T	.	.	0.385	0.58785	A	.;.	.;.	4.842914	0.79077	27.0	0.99920112819190654	0.98721	0.97945	0.78327	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999204712522615	0.38742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.93	4.93	0.64394	2.958000	0.48838	5.921000	0.51166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.205	0.81944	26	0.98304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1401.98	37	chrX	107597479	.	C	T	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=809;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.130e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1416,0,1207	20	0	1	0
chrX	107794245	107794245	T	C	exonic	NCBP2L	.	nonsynonymous SNV	NCBP2L:NM_001348372:exon2:c.T25C:p.C9R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	.	.	.	.	0.007	N	1.000	N	.	.	.	.	-1.065	T	0.042	T	0.115	-0.021	3.906	-9.56	-2.899	-3.717	3.084	0.008	0.000372224422232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.557e-06	4.371e-06	7.153e-06	0	4.017e-06	7.6e-07	2.8e-07	.	.	0	0	0	0	0	0	4.017e-06	4.16e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.08594	T	.	.	.	.	.	.	0.006998	0.01149	N	2.752130	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.102	0.08506	-1.0645	0.10666	T	0.042	0.18076	T	6	0.047743827	0.04132	T	3.72E-4	0.00054	T	.	.	.	.	0.0138822411134	0.00435	0.3450711388229616	0.34421	0.0424176791749	0.04572	.	.	.	0.008453	0.07757	T	-0.55146	0.00286	T	-1.02991	0.00090	T	0.0664204061031342	0.08139	T	0.184382	0.01906	T	0.18315117	0.39568	0.16289788	0.37816	0.18315117	0.39568	0.16289788	0.37816	-2.078	0.03490	T	.	.	0.084	0.09868	B	.;.	.;.	-2.155528	0.00071	0.001	0.46559686030614506	0.03739	0.00800	0.03259	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999995615661648	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.78	-9.56	0.00476	-3.678000	0.00444	-7.883000	0.01068	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2968:0.1009:0.0873:0.5149	3.084	0.05894	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	889.98	93	chrX	107794245	.	T	C	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=1086;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-9.600e-02;SOR=0.649	GT:AD:DP:GQ:PL	0/1:32,40:72:99:904,0,723	20	0	1	0
chrX	108591181	108591181	C	A	exonic	COL4A5	.	nonsynonymous SNV	COL4A5:NM_000495:exon20:c.C1289A:p.A430D,	Alport syndrome, X-linked dominant	.	2	1498	17	5	0	27	0.00893152	.	.	257736	X-linked_Alport_syndrome|not_provided|not_specified	MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.65	T	0.009	B	0.012	B	0.249	N	0.979	N	0.85	L	-3.28	D	-0.523	T	0.554	D	0.265	1.273	10.16	4.38	0.985	1.058	15.065	0.202	.	0.0045	0.00238411	0.0047	0.0002	0.0011	0	0.0117	0.0061	0.0142	0.0046	0.0001921	5	26028	rs142883891	0.0053	0.0053	0.0053	0.0051	0.0055	0.0052	0.0051	0.0054	0.0053	0.0005	0.0015	0.0091	0	0.0099	0.0017	0.0055	0.0053	0.0043	0.0042	0.0043	0.0041	0.0044	0.0058	0.0039	0.0037	0.0053	0.0051	0.0007	0	0.0016	0.0098	0	0.0135	0	0.0058	0.0033	0.0022	0.286	0.15201	T	0.511	0.10785	T	0.009	0.15093	B	0.012	0.16012	B	0.249368	0.15543	N	0.644275	0.978792	0.25225	N	0.14	0.08730	N	-3.28	0.93691	D	-1.5	0.37178	N	0.07	0.10911	-0.5234	0.67788	T	0.554	0.83677	D	10	0.00821501	0.00186	T	.	.	.	0.202	0.48754	.	.	0.559495123731	0.55609	0.3683802809472808	0.36752	0.448282245212	0.44661	0.394535541534	0.24306	T	0.470857	0.80380	T	-0.333489	0.05851	T	-0.249615	0.49854	T	0.0178019984298685	0.00509	T	0.754725	0.42156	T	0.43869984	0.63319	0.45109886	0.68061	0.68039614	0.76992	0.42935047	0.66620	-5.543	0.42462	T	0.1562111721160591	0.18777	0.113	0.22318	B	.;.;.	.;.;.	1.783708	0.22680	15.72	0.95481381978651925	0.27044	0.18606	0.20329	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.929202291356721	0.26959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.26	4.38	0.52019	1.889000	0.39352	2.597000	0.33501	0.549000	0.26987	0.019000	0.19563	0.999000	0.35428	0.997000	0.79791	0.0:0.8612:0.1388:0.0	15.065	0.71656	235	0.90838	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1376.98	33	chrX	108591181	.	C	A	1376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=773;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.904;SOR=0.833	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1391,0,767	20	0	1	0
chrX	119088327	119088327	T	C	exonic	KIAA1210	.	nonsynonymous SNV	KIAA1210:NM_020721:exon11:c.A2903G:p.K968R,	.	.	.	.	.	.	.	.	.	.	.	717615	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.763	P	0.28	B	.	.	1.000	N	0.345	N	2.91	T	-0.989	T	0.005	T	0.025	1.509	11.00	1.85	0.252	1.048	3.385	0.074	.	0.0099	0.0103311	0.0032	0.0328	0.0009	0	0	0.0001	0.0065	0.0001	0.002639	408	154602	rs144721833	0.0011	0.0011	0.0012	0.0009	0.0335	0.0010	0.0010	0.0317	0.0309	0.0335	0.0025	0	0	0	0.0012	0.0001	0.0024	3.708e-05	0.0091	0.0094	0.0093	0.0086	0.0314	0.0086	0.0085	0.0298	0.0291	0.0314	0	0.0031	0	0	0	0	0.0002	0.0078	0	0.009	0.57480	D	0.438	0.13403	T	0.763	0.43659	P	0.28	0.40294	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.91	0.10008	T	-0.92	0.24676	N	0.011	0.00110	-0.9888	0.32903	T	0.005	0.01833	T	9	0.0033786595	0.00059	T	.	.	.	0.074	0.21613	.	.	0.0846915920261	0.08053	0.033776450335741955	0.03325	0.0682168120651	0.07639	0.220467492938	0.01337	T	0.004295	0.03699	T	-0.897949	0.00000	T	-1.03755	0.00080	T	0.00378835702239958	0.00040	T	0.347365	0.07649	T	0.055603597	0.10827	0.06913832	0.14528	0.055603597	0.10827	0.06913832	0.14527	-5.457	0.41464	T	.	.	0.083	0.09045	B	.	.	1.111654	0.14965	11.48	0.97758685556381864	0.35794	0.04599	0.10254	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.078701265367869	0.15796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	1.85	0.24418	1.032000	0.29786	1.531000	0.27160	0.609000	0.47794	0.042000	0.21073	0.009000	0.19889	0.029000	0.12982	0.0:0.1331:0.2309:0.636	3.385	0.06847	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	0.02381	1484.98	76	chrX	119088327	.	T	C	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=1005;ExcessHet=0.0000;FS=2.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-1.870e+00;SOR=0.493	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1499,0,1363	20	0	1	0
chrX	119470513	119470513	-	CTGACCTCATGTACACAGGCAT	exonic	SLC25A5	.	frameshift insertion	SLC25A5:NM_001152:exon3:c.739_740insCTGACCTCATGTACACAGGCAT:p.I249Lfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.188e-07	0.0003	1.368e-06	0	1.196e-06	0	0	.	.	0	0	0	0	0	0	1.196e-06	0	0	7.304e-05	0.0030	0.0001	0	0.0003	3.535e-05	2.563e-05	2.679e-05	1.442e-05	0.0001	0	0	0.0004	0.0003	0	0	5.759e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	233.94	71	chrX	119470513	.	A	ACTGACCTCATGTACACAGGCAT	233.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.884;DP=1396;ExcessHet=0.0000;FS=1.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.18;MQRankSum=-6.980e+00;QD=3.34;ReadPosRankSum=-2.867e+00;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,12:70:99:0|1:119470504_C_T:248,0,2359:119470504	20	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:50,25:80:64:64,0,642	5	0	16	0
chrX	137566826	137566828	CGC	-	exonic	ZIC3	.	nonframeshift deletion	ZIC3:NM_001330661:exon1:c.135_137del:p.A55del	Congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive;Heterotaxy, visceral, 1, X-linked, X-linked recessive;VACTERL association, X-linked, X-linked recessive	.	1	1491	21	2	7	32	0.00831393	.	.	574323	ZIC3-related_disorder|Heterotaxy,_visceral,_1,_X-linked	.|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955,Orphanet:450	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0568	.	0.0035	0	0.0030	0	0	0.0021	0.0106	0.0055	0.0001537	4	26028	rs748325646	0.0003	0.0011	0.0003	0.0004	0.0051	0.0003	0.0003	0.0046	0.0044	8.063e-05	7.168e-05	5.404e-05	0.0001	0.0012	0.0003	4.037e-05	0.0003	0.0051	0.0002	0.0002	0.0001	0.0002	0.0056	9.641e-05	7.947e-05	0.0034	0.0028	3.234e-05	0	0	0	0	0	0	1.89e-05	0	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	207.94	35	chrX	137566825	.	ACGC	A	207.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.96;ReadPosRankSum=-1.710e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:94,12:106:99:222,0,3888	20	0	1	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,131,0:131:99:.:.:3751,391,0,3275,382,3536	4	11	2	2
chrX	151970305	151970305	C	T	exonic	GABRE	.	nonsynonymous SNV	GABRE:NM_004961:exon2:c.G154A:p.E52K,	.	.	428	1085	6	3	0	12	0.00549954	.	.	1196325	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.02	B	0.007	B	.	.	0.998	N	0	N	-0.62	T	-0.937	T	0.151	T	0.174	1.814	12.03	3.23	1.053	-0.070	6.232	0.112	.	0.0047	0.0018543	0.0050	0	0.0025	0	0.0073	0.0073	0.0111	0.0028	0.0048382	748	154602	rs61730040	0.0054	0.0054	0.0054	0.0056	0.0090	0.0053	0.0053	0.0067	0.0059	0.0004	0.0019	0.0322	3.311e-05	0.0073	0.0090	0.0053	0.0069	0.0033	0.0049	0.0049	0.0051	0.0045	0.0063	0.0046	0.0044	0.0058	0.0055	0.0005	0	0.0022	0.0418	0	0.0074	0.0276	0.0063	0.0032	0.0019	0.256	0.16793	T	0.643	0.06903	T	0.02	0.18235	B	0.007	0.12992	B	.	.	.	.	1	0.22281	N	1.04	0.26193	L	-1.21	0.78645	T	-0.7	0.19933	N	0.048	0.01999	-0.9370	0.43088	T	0.151	0.47839	T	9	0.0033326745	0.00058	T	.	.	.	0.112	0.31546	.	.	0.702567724967	0.69998	0.4777811933003477	0.47698	0.0722118385532	0.08101	0.304640293121	0.11097	T	0.02469	0.18606	T	-0.549182	0.00295	T	-0.559026	0.16469	T	0.0155750220559097	0.00355	T	0.59614	0.22137	T	0.06493614	0.13827	0.08006154	0.18078	0.047570813	0.08151	0.08006154	0.18078	-3.681	0.19038	T	.	.	0.059	0.00847	B	.	.	0.341114	0.07149	3.728	0.97890270438870031	0.36669	0.06548	0.12561	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999995613408461	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.11	3.23	0.36150	-0.044000	0.11977	0.051000	0.14001	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.8602:0.0:0.1398	6.232	0.19951	799	0.44747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	840.98	34	chrX	151970305	.	C	T	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=804;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=-1.017e+00;SOR=0.488	GT:AD:DP:GQ:PL	0/1:59,38:97:99:855,0,1391	20	0	1	0
chrX	151970346	151970346	T	C	exonic	GABRE	.	nonsynonymous SNV	GABRE:NM_004961:exon2:c.A113G:p.Y38C,	.	.	417	1096	6	3	0	12	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.667	P	.	.	1.000	N	0	N	-0.66	T	-0.844	T	0.205	T	0.413	2.440	14.12	2.9	0.678	0.377	5.770	0.247	.	0.0047	0.0018543	0.0051	0	0.0025	0	0.0073	0.0073	0.0111	0.0028	0.0048576	751	154602	rs61730039	0.0055	0.0055	0.0054	0.0056	0.0094	0.0054	0.0053	0.0070	0.0061	0.0004	0.0019	0.0322	3.311e-05	0.0073	0.0094	0.0053	0.0069	0.0033	0.0049	0.0049	0.0051	0.0044	0.0063	0.0045	0.0044	0.0058	0.0055	0.0005	0	0.0022	0.0414	0	0.0073	0.0275	0.0063	0.0033	0.0023	0.004	0.65419	D	0.02	0.58613	D	0.992	0.64738	D	0.667	0.53020	P	.	.	.	.	1	0.08975	N	1.2	0.30300	L	-1.25	0.79072	T	-1.2	0.30555	N	0.148	0.15046	-0.8440	0.52379	T	0.205	0.56293	T	9	0.0052545965	0.00115	T	.	.	.	0.247	0.55478	.	.	0.858546123532	0.85718	0.4204683374585385	0.41962	0.132204958427	0.14900	0.325509607792	0.14254	T	0.037596	0.24533	T	-0.389261	0.02720	T	-0.329033	0.41576	T	0.0117111600402332	0.00180	T	0.643236	0.25495	T	0.12716183	0.29764	0.15440227	0.36240	0.15120377	0.34384	0.15440227	0.36239	-4.245	0.27398	T	.	.	0.12	0.24767	B	.	.	1.942253	0.24671	16.48	0.99128134390396627	0.53169	0.13529	0.17908	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999982984425167	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.11	2.9	0.32809	0.639000	0.24378	1.981000	0.30034	0.663000	0.56723	0.004000	0.16614	0.978000	0.30204	0.039000	0.14166	0.2498:0.0:0.0:0.7502	5.770	0.17515	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	780.98	34	chrX	151970346	.	T	C	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.112e+00;DP=796;ExcessHet=0.0000;FS=4.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-1.430e-01;SOR=0.375	GT:AD:DP:GQ:PL	0/1:48,40:88:99:795,0,1077	20	0	1	0
chrX	153541364	153541364	G	A	exonic	ATP2B3	.	nonsynonymous SNV	ATP2B3:NM_001001344:exon2:c.G214A:p.A72T	.	.	8	1503	9	2	0	13	0.00430606	.	.	537589	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.007	B	0.019	B	0.003	N	0.552	N	-0.495	N	-0.91	T	-0.953	T	0.143	T	0.273	1.181	9.802	3.53	1.077	3.024	6.628	0.148	0.0169352344929	0.0005	0.000264901	0.0004	0	0.0002	0	0	0.0006	0	0.0001	0.000401	62	154602	rs149114271	0.0004	0.0004	0.0004	0.0004	0.0024	0.0004	0.0004	0.0013	0.0010	3.788e-05	0.0006	0	0	0	0.0024	0.0005	0.0005	0.0003	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0014	0.0012	0	0	0.0021	0	0	0	0	0.0006	0	0	0.231	0.25560	T	0.306	0.19972	T	0.004	0.14184	B	0.019	0.18783	B	0.002956	0.35672	N	0.227983	0.881093	0.31323	N	0.275	0.09989	N	-0.91	0.75001	T	-0.48	0.15379	N	0.07	0.10340	-0.9528	0.40485	T	0.143	0.46459	T	10	0.032008976	0.01345	T	0.016935	0.38428	T	0.148	0.39182	.	.	0.814692847585	0.81295	0.4505419769636483	0.44972	0.574172683107	0.53457	0.41684615612	0.27403	T	0.051333	0.28851	T	-0.406383	0.02101	T	-0.450432	0.27649	T	0.0126197297311999	0.00211	T	0.912409	0.68863	D	0.07170543	0.15896	0.11491533	0.27740	0.07170543	0.15895	0.11491533	0.27739	-3.758	0.20178	T	0.0538055453606358	0.01108	0.071	0.04316	B	.;.;.;.;.	.;.;.;.;.	2.229049	0.28453	17.80	0.96099046233502572	0.28706	0.91304	0.53264	D	AEFBI	.	.	.	.	.	.	.	.	.	0.987123580407125	0.31189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.51	3.53	0.39533	1.744000	0.37894	.	.	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.473000	0.28408	0.0:0.1304:0.4465:0.4231	6.628	0.22032	109	0.95526	Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;.;.;.;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	916.98	34	chrX	153541364	.	G	A	916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.165e+00;DP=791;ExcessHet=0.0000;FS=1.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-6.580e-01;SOR=0.457	GT:AD:DP:GQ:PL	0/1:35,43:78:99:931,0,816	20	0	1	0
chrX	154366215	154366215	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon9:c.C1238T:p.T413M	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	.	.	.	.	.	.	.	.	.	.	208978	Heterotopia,_periventricular,_X-linked_dominant|Melnick-Needles_syndrome|Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided	MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.165	B	0.125	B	0.138	N	1.000	N	0.95	L	-1.89	D	-0.713	T	0.367	T	0.165	-0.430	2.000	0.004	-0.027	0.571	7.941	0.092	0.0648242775665	.	.	3.498e-05	0	0	0	0	6.39e-05	0	0	1.94e-05	3	154602	rs782549299	3.646e-05	3.642e-05	3.814e-05	3.306e-05	0.0005	2.748e-05	2.419e-05	8.523e-05	3.55e-05	0	8.522e-05	0	0	0	0.0005	3.8e-05	6.51e-05	0	0.0001	0.0001	0.0001	2.904e-05	0.0002	6.087e-05	4.788e-05	7.46e-05	5.462e-05	9.715e-05	0	9.315e-05	0	0	0	0	0.0002	0	0	0.239	0.17761	T	0.103	0.38305	T	0.165	0.28508	B	0.125	0.32635	B	0.137599	0.18407	N	0.457774	1	0.08975	N	1.19	0.30124	L	-1.89	0.84557	D	-1.38	0.34198	N	0.252	0.30574	-0.7131	0.59800	T	0.367	0.72750	T	10	0.21709329	0.38312	T	0.064824	0.69394	D	0.092	0.26621	0.421	0.46365	0.758234794107	0.75604	0.29476528827884185	0.29389	0.791909128975	0.65833	0.290200471878	0.08951	T	0.521619	0.83281	D	-0.281837	0.10473	T	-0.454805	0.27168	T	0.017197135835886	0.00463	T	0.810819	0.46223	T	0.032424953	0.03264	0.07956122	0.17921	0.032424953	0.03264	0.07956122	0.17920	-5.039	0.37261	T	0.14453705185565882	0.16520	0.063	0.02488	B	.;.;.;.;.	.;.;.;.;.	1.584550	0.20273	14.67	0.88706565038151652	0.18190	0.03098	0.08027	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999988825042436	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.68	0.00435	0.13380	0.548000	0.23022	-0.253000	0.10490	0.612000	0.49041	0.003000	0.16062	0.000000	0.08366	0.231000	0.22761	0.747:0.0:0.253:0.0	7.941	0.29122	86	0.96395	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1295.98	41	chrX	154366215	.	G	A	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-2.000e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1310,0,1348	20	0	1	0
chrX	154776816	154776816	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1479_1480insAAG:p.K500_A501insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	1	1335	119	53	14	239	0.0777202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3716.36	93	chrX	154776813	.	CAAG	C,CAAGAAG	3716.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.985;DP=967;ExcessHet=0.3300;FS=2.012;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-5.560e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/1:111,15,0:128:99:274,0,4601,639,4676,5464	18	0	1	0